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 1 202302388 202302388 + Missense_Mutation SNP C C A TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr1:202302388C>A c.361G>T c.(361-363)Gat>Tat p.D121Y BLCA 1 202302415 202302415 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr1:202302415G>C c.334C>G c.(334-336)Cag>Gag p.Q112E BLCA 1 202302605 202302614 + Frame_Shift_Del DEL ACAAATCCTT ACAAATCCTT - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr1:202302605_202302614delACAAATCCTT c.249_258delAAGGATTTGT c.(247-258)ggaaggatttgtfs p.GRIC83fs BLCA 1 202302662 202302662 + Missense_Mutation SNP C C A TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr1:202302662C>A c.201G>T c.(199-201)caG>caT p.Q67H BRCA 1 202301082 202301082 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr1:202301082C>T c.475G>A c.(475-477)Gag>Aag p.E159K BRCA 1 202302593 202302593 + Silent SNP G G A TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr1:202302593G>A c.270C>T c.(268-270)ctC>ctT p.L90L BRCA 1 202304779 202304779 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr1:202304779C>T c.104G>A c.(103-105)cGa>cAa p.R35Q CESC 1 202302388 202302388 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 g.chr1:202302388C>T c.361G>A c.(361-363)Gat>Aat p.D121N CESC 1 202302443 202302443 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr1:202302443G>A c.306C>T c.(304-306)ctC>ctT p.L102L COAD 1 202302437 202302437 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:202302437G>A c.312C>T c.(310-312)atC>atT p.I104I COAD 1 202304774 202304774 + Splice_Site SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:202304774G>A c.109C>T c.(109-111)Caa>Taa p.Q37* COAD 1 202304824 202304824 + Frame_Shift_Del DEL G G - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:202304824delG c.59delC c.(58-60)ccafs p.P20fs COADREAD 1 202302437 202302437 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:202302437G>A c.312C>T c.(310-312)atC>atT p.I104I COADREAD 1 202304774 202304774 + Splice_Site SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:202304774G>A c.109C>T c.(109-111)Caa>Taa p.Q37* COADREAD 1 202304824 202304824 + Frame_Shift_Del DEL G G - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:202304824delG c.59delC c.(58-60)ccafs p.P20fs ESCA 1 202302447 202302447 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 g.chr1:202302447G>T c.302C>A c.(301-303)tCc>tAc p.S101Y HNSC 1 202301067 202301067 + Missense_Mutation SNP C C T TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr1:202301067C>T c.490G>A c.(490-492)Gat>Aat p.D164N LUAD 1 202301011 202301011 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr1:202301011C>A c.546G>T c.(544-546)aaG>aaT p.K182N LUAD 1 202301085 202301085 + Missense_Mutation SNP C C T TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr1:202301085C>T c.472G>A c.(472-474)Gat>Aat p.D158N LUAD 1 202304773 202304773 + Splice_Site SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:202304773C>A c.e2+1 LUAD 1 202304824 202304824 + Frame_Shift_Del DEL G G - TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr1:202304824delG c.59delC c.(58-60)ccafs p.P20fs LUAD 1 202304862 202304862 + Silent SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr1:202304862C>G c.21G>C c.(19-21)ctG>ctC p.L7L LUSC 1 202302223 202302223 + Splice_Site SNP T T A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr1:202302223T>A c.e6-2

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 1 202300965 202300965 single base substitution A G downstream_gene_variant BOCA-FR 1 202300965 202300965 single base substitution A G exon_variant BOCA-FR 1 202300965 202300965 single base substitution A G stop_lost *198Q 592T>C BRCA-EU 1 202296489 202296489 single base substitution G A downstream_gene_variant BRCA-EU 1 202297319 202297319 single base substitution T A downstream_gene_variant BRCA-EU 1 202297429 202297429 single base substitution C T downstream_gene_variant BRCA-EU 1 202297892 202297892 single base substitution G A downstream_gene_variant BRCA-EU 1 202298818 202298818 single base substitution G T downstream_gene_variant BRCA-EU 1 202299082 202299082 single base substitution G T downstream_gene_variant BRCA-EU 1 202299329 202299329 single base substitution C A downstream_gene_variant BRCA-EU 1 202299607 202299607 single base substitution C T downstream_gene_variant BRCA-EU 1 202299611 202299611 single base substitution C T downstream_gene_variant BRCA-EU 1 202300886 202300886 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 202300886 202300886 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 202301883 202301883 single base substitution A C downstream_gene_variant BRCA-EU 1 202301883 202301883 single base substitution A C intron_variant BRCA-EU 1 202303183 202303183 single base substitution G A intron_variant BRCA-EU 1 202303333 202303333 single base substitution G A intron_variant BRCA-EU 1 202304270 202304270 single base substitution C G intron_variant BRCA-EU 1 202304289 202304289 single base substitution C A intron_variant BRCA-EU 1 202304853 202304854 deletion of <=200bp CT - exon_variant BRCA-EU 1 202304853 202304854 deletion of <=200bp CT - frameshift_variant E10 BRCA-EU 1 202305299 202305299 single base substitution C G intron_variant BRCA-EU 1 202305299 202305299 single base substitution C G upstream_gene_variant BRCA-EU 1 202305862 202305862 single base substitution A T intron_variant BRCA-EU 1 202305862 202305862 single base substitution A T upstream_gene_variant BRCA-EU 1 202306085 202306085 insertion of <=200bp - T intron_variant BRCA-EU 1 202306085 202306085 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 202306307 202306307 single base substitution G A intron_variant BRCA-EU 1 202306307 202306307 single base substitution G A upstream_gene_variant BRCA-EU 1 202306581 202306581 single base substitution C G intron_variant BRCA-EU 1 202306581 202306581 single base substitution C G upstream_gene_variant BRCA-EU 1 202307205 202307205 single base substitution T C intron_variant BRCA-EU 1 202307205 202307205 single base substitution T C upstream_gene_variant BRCA-EU 1 202307348 202307348 insertion of <=200bp - T intron_variant BRCA-EU 1 202307348 202307348 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 202308706 202308706 single base substitution C T intron_variant BRCA-EU 1 202308706 202308706 single base substitution C T upstream_gene_variant BRCA-EU 1 202310226 202310226 single base substitution C G intron_variant BRCA-EU 1 202311622 202311622 single base substitution C T upstream_gene_variant BRCA-EU 1 202312942 202312942 single base substitution C G upstream_gene_variant BRCA-EU 1 202313603 202313603 single base substitution T A upstream_gene_variant BRCA-EU 1 202314008 202314008 single base substitution G C upstream_gene_variant BRCA-EU 1 202314532 202314532 single base substitution G A upstream_gene_variant BRCA-EU 1 202314748 202314748 single base substitution C G upstream_gene_variant BRCA-EU 1 202315831 202315831 single base substitution C A upstream_gene_variant BRCA-EU 1 202315894 202315894 single base substitution T C upstream_gene_variant BRCA-FR 1 202299607 202299607 single base substitution C T downstream_gene_variant BRCA-FR 1 202299611 202299611 single base substitution C T downstream_gene_variant BRCA-FR 1 202303333 202303333 single base substitution G A intron_variant BRCA-FR 1 202314532 202314532 single base substitution G A upstream_gene_variant BRCA-FR 1 202314748 202314748 single base substitution C G upstream_gene_variant BRCA-UK 1 202298818 202298818 single base substitution G T downstream_gene_variant BRCA-UK 1 202314008 202314008 single base substitution G C upstream_gene_variant BRCA-US 1 202301082 202301082 single base substitution C T downstream_gene_variant BRCA-US 1 202301082 202301082 single base substitution C T exon_variant BRCA-US 1 202301082 202301082 single base substitution C T missense_variant E159K 475G>A BRCA-US 1 202302593 202302593 single base substitution G A exon_variant BRCA-US 1 202302593 202302593 single base substitution G A synonymous_variant L90L 270C>T BRCA-US 1 202304779 202304779 single base substitution C T exon_variant BRCA-US 1 202304779 202304779 single base substitution C T missense_variant R35Q 104G>A CESC-US 1 202302388 202302388 single base substitution C T exon_variant CESC-US 1 202302388 202302388 single base substitution C T missense_variant D121N 361G>A CESC-US 1 202302443 202302443 single base substitution G A exon_variant CESC-US 1 202302443 202302443 single base substitution G A synonymous_variant L102L 306C>T CLLE-ES 1 202308047 202308047 single base substitution G A intron_variant CLLE-ES 1 202308047 202308047 single base substitution G A upstream_gene_variant CLLE-ES 1 202308081 202308081 single base substitution A C intron_variant CLLE-ES 1 202308081 202308081 single base substitution A C upstream_gene_variant COAD-US 1 202304774 202304774 single base substitution G A splice_region_variant COAD-US 1 202304774 202304774 single base substitution G A stop_gained Q37* 109C>T COAD-US 1 202304868 202304868 single base substitution T C exon_variant COAD-US 1 202304868 202304868 single base substitution T C synonymous_variant S5S 15A>G ESAD-UK 1 202301642 202301642 single base substitution G T downstream_gene_variant ESAD-UK 1 202301642 202301642 single base substitution G T intron_variant ESAD-UK 1 202302759 202302759 single base substitution C T intron_variant ESAD-UK 1 202302764 202302764 single base substitution T C intron_variant ESAD-UK 1 202303479 202303479 single base substitution G A intron_variant ESAD-UK 1 202306328 202306328 single base substitution C T intron_variant ESAD-UK 1 202306328 202306328 single base substitution C T upstream_gene_variant ESAD-UK 1 202306818 202306818 deletion of <=200bp A - intron_variant ESAD-UK 1 202306818 202306818 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 202308004 202308004 single base substitution C T intron_variant ESAD-UK 1 202308004 202308004 single base substitution C T upstream_gene_variant ESAD-UK 1 202311115 202311115 single base substitution T C upstream_gene_variant ESAD-UK 1 202312968 202312968 single base substitution G T upstream_gene_variant ESAD-UK 1 202315262 202315262 single base substitution A T upstream_gene_variant ESCA-CN 1 202302628 202302628 single base substitution T A exon_variant ESCA-CN 1 202302628 202302628 single base substitution T A missense_variant I79F 235A>T LAML-KR 1 202300900 202300900 single base substitution G A 3_prime_UTR_variant LAML-KR 1 202300900 202300900 single base substitution G A downstream_gene_variant LAML-KR 1 202315409 202315409 single base substitution G T upstream_gene_variant LICA-FR 1 202312114 202312114 single base substitution C T upstream_gene_variant LICA-FR 1 202315132 202315132 insertion of <=200bp - TATATATATA upstream_gene_variant LIRI-JP 1 202297640 202297640 single base substitution C A downstream_gene_variant LIRI-JP 1 202298615 202298615 single base substitution G T downstream_gene_variant LIRI-JP 1 202302151 202302151 single base substitution C A exon_variant LIRI-JP 1 202302151 202302151 single base substitution C A missense_variant R152I 455G>T LIRI-JP 1 202303280 202303280 single base substitution T C intron_variant LIRI-JP 1 202307653 202307653 single base substitution T C intron_variant LIRI-JP 1 202307653 202307653 single base substitution T C upstream_gene_variant LIRI-JP 1 202315354 202315354 deletion of <=200bp C - upstream_gene_variant LIRI-JP 1 202315676 202315676 single base substitution C T upstream_gene_variant LUSC-KR 1 202311378 202311378 single base substitution A T upstream_gene_variant LUSC-KR 1 202311516 202311516 single base substitution A G upstream_gene_variant LUSC-KR 1 202312615 202312615 single base substitution T C upstream_gene_variant LUSC-US 1 202302223 202302223 single base substitution T A exon_variant LUSC-US 1 202302223 202302223 single base substitution T A splice_acceptor_variant MALY-DE 1 202305916 202305916 single base substitution C A intron_variant MALY-DE 1 202305916 202305916 single base substitution C A upstream_gene_variant MALY-DE 1 202311533 202311533 single base substitution C T upstream_gene_variant MELA-AU 1 202296383 202296383 single base substitution C T downstream_gene_variant MELA-AU 1 202296465 202296465 single base substitution C T downstream_gene_variant MELA-AU 1 202296811 202296811 single base substitution C T downstream_gene_variant MELA-AU 1 202296870 202296870 single base substitution G A downstream_gene_variant MELA-AU 1 202297047 202297047 single base substitution C T downstream_gene_variant MELA-AU 1 202297376 202297376 single base substitution G A downstream_gene_variant MELA-AU 1 202297424 202297424 single base substitution G A downstream_gene_variant MELA-AU 1 202297542 202297542 single base substitution G A downstream_gene_variant MELA-AU 1 202298011 202298011 single base substitution G A downstream_gene_variant MELA-AU 1 202299402 202299402 single base substitution G A downstream_gene_variant MELA-AU 1 202299403 202299403 single base substitution G A downstream_gene_variant MELA-AU 1 202299549 202299549 single base substitution G A downstream_gene_variant MELA-AU 1 202299865 202299865 single base substitution T A downstream_gene_variant MELA-AU 1 202300597 202300597 single base substitution C G downstream_gene_variant MELA-AU 1 202300946 202300946 single base substitution G C 3_prime_UTR_variant MELA-AU 1 202300946 202300946 single base substitution G C downstream_gene_variant MELA-AU 1 202301105 202301105 single base substitution G A downstream_gene_variant MELA-AU 1 202301105 202301105 single base substitution G A intron_variant MELA-AU 1 202301348 202301348 single base substitution C A downstream_gene_variant MELA-AU 1 202301348 202301348 single base substitution C A intron_variant MELA-AU 1 202302943 202302943 single base substitution C T intron_variant MELA-AU 1 202303363 202303363 single base substitution G A intron_variant MELA-AU 1 202303602 202303602 single base substitution T A intron_variant MELA-AU 1 202303732 202303732 single base substitution G A intron_variant MELA-AU 1 202304180 202304180 single base substitution A T exon_variant MELA-AU 1 202304180 202304180 single base substitution A T intron_variant MELA-AU 1 202304180 202304180 single base substitution A T stop_gained L39* 116T>A MELA-AU 1 202305035 202305035 single base substitution G A intron_variant MELA-AU 1 202305035 202305035 single base substitution G A upstream_gene_variant MELA-AU 1 202305254 202305254 single base substitution G A intron_variant MELA-AU 1 202305254 202305254 single base substitution G A upstream_gene_variant MELA-AU 1 202305768 202305768 single base substitution G A intron_variant MELA-AU 1 202305768 202305768 single base substitution G A upstream_gene_variant MELA-AU 1 202305927 202305927 single base substitution C T intron_variant MELA-AU 1 202305927 202305927 single base substitution C T upstream_gene_variant MELA-AU 1 202306096 202306096 single base substitution G A intron_variant MELA-AU 1 202306096 202306096 single base substitution G A upstream_gene_variant MELA-AU 1 202308277 202308277 single base substitution G A intron_variant MELA-AU 1 202308277 202308277 single base substitution G A upstream_gene_variant MELA-AU 1 202308618 202308618 single base substitution G A intron_variant MELA-AU 1 202308618 202308618 single base substitution G A upstream_gene_variant MELA-AU 1 202308717 202308717 single base substitution G A intron_variant MELA-AU 1 202308717 202308717 single base substitution G A upstream_gene_variant MELA-AU 1 202309092 202309092 single base substitution C G intron_variant MELA-AU 1 202309092 202309092 single base substitution C G upstream_gene_variant MELA-AU 1 202309952 202309952 single base substitution A G intron_variant MELA-AU 1 202309959 202309959 single base substitution A T intron_variant MELA-AU 1 202310014 202310014 single base substitution G A intron_variant MELA-AU 1 202310171 202310171 single base substitution T A intron_variant MELA-AU 1 202310995 202310996 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 1 202311066 202311066 single base substitution G A 5_prime_UTR_variant MELA-AU 1 202311066 202311066 single base substitution G A exon_variant MELA-AU 1 202311112 202311112 single base substitution C T upstream_gene_variant MELA-AU 1 202311114 202311114 single base substitution C T upstream_gene_variant MELA-AU 1 202311155 202311156 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 202311177 202311177 single base substitution C T upstream_gene_variant MELA-AU 1 202311339 202311339 single base substitution G A upstream_gene_variant MELA-AU 1 202312304 202312304 single base substitution T A upstream_gene_variant MELA-AU 1 202312306 202312306 single base substitution T A upstream_gene_variant MELA-AU 1 202312459 202312459 single base substitution C T upstream_gene_variant MELA-AU 1 202312604 202312604 single base substitution G A upstream_gene_variant MELA-AU 1 202312771 202312771 single base substitution C T upstream_gene_variant MELA-AU 1 202312902 202312902 single base substitution C T upstream_gene_variant MELA-AU 1 202313092 202313092 single base substitution G A upstream_gene_variant MELA-AU 1 202313400 202313400 single base substitution G A upstream_gene_variant MELA-AU 1 202313752 202313752 single base substitution C T upstream_gene_variant MELA-AU 1 202313789 202313789 single base substitution G C upstream_gene_variant MELA-AU 1 202313891 202313891 single base substitution G A upstream_gene_variant MELA-AU 1 202313994 202313994 single base substitution T C upstream_gene_variant MELA-AU 1 202313997 202313997 single base substitution G A upstream_gene_variant MELA-AU 1 202314219 202314219 single base substitution G A upstream_gene_variant MELA-AU 1 202314309 202314309 single base substitution C T upstream_gene_variant MELA-AU 1 202314416 202314416 single base substitution A G upstream_gene_variant MELA-AU 1 202314636 202314636 single base substitution C T upstream_gene_variant MELA-AU 1 202314816 202314816 single base substitution G A upstream_gene_variant MELA-AU 1 202314917 202314917 single base substitution G A upstream_gene_variant MELA-AU 1 202315081 202315081 single base substitution C T upstream_gene_variant MELA-AU 1 202315297 202315297 single base substitution G A upstream_gene_variant MELA-AU 1 202315492 202315492 single base substitution G A upstream_gene_variant MELA-AU 1 202315605 202315605 single base substitution G A upstream_gene_variant MELA-AU 1 202315986 202315986 single base substitution C T upstream_gene_variant MELA-AU 1 202316108 202316108 single base substitution G A upstream_gene_variant ORCA-IN 1 202311299 202311299 single base substitution C G upstream_gene_variant OV-AU 1 202298869 202298869 single base substitution G T downstream_gene_variant OV-AU 1 202299010 202299010 single base substitution G C downstream_gene_variant OV-AU 1 202306857 202306857 single base substitution T A intron_variant OV-AU 1 202306857 202306857 single base substitution T A upstream_gene_variant OV-AU 1 202312971 202312971 single base substitution A T upstream_gene_variant OV-AU 1 202314422 202314422 single base substitution C A upstream_gene_variant OV-AU 1 202314813 202314813 single base substitution G C upstream_gene_variant PACA-AU 1 202301573 202301573 single base substitution C A downstream_gene_variant PACA-AU 1 202301573 202301573 single base substitution C A intron_variant PACA-AU 1 202301588 202301588 single base substitution G A downstream_gene_variant PACA-AU 1 202301588 202301588 single base substitution G A intron_variant PACA-AU 1 202302867 202302867 single base substitution T C intron_variant PACA-AU 1 202305585 202305585 single base substitution T C intron_variant PACA-AU 1 202305585 202305585 single base substitution T C upstream_gene_variant PACA-AU 1 202309644 202309656 deletion of <=200bp AAAAAAAAAAAAG - intron_variant PACA-AU 1 202309644 202309656 deletion of <=200bp AAAAAAAAAAAAG - upstream_gene_variant PACA-AU 1 202310301 202310314 deletion of <=200bp TCCTTAGGAGGAAT - intron_variant PACA-AU 1 202314913 202314913 single base substitution G T upstream_gene_variant PACA-CA 1 202296405 202296405 single base substitution C G downstream_gene_variant PACA-CA 1 202300807 202300807 single base substitution T A 3_prime_UTR_variant PACA-CA 1 202300807 202300807 single base substitution T A downstream_gene_variant PACA-CA 1 202304130 202304130 single base substitution T C exon_variant PACA-CA 1 202304130 202304130 single base substitution T C intron_variant PACA-CA 1 202304130 202304130 single base substitution T C missense_variant I56V 166A>G PACA-CA 1 202304377 202304377 single base substitution A G intron_variant PACA-CA 1 202304608 202304608 single base substitution T C intron_variant PACA-CA 1 202305895 202305895 single base substitution T C intron_variant PACA-CA 1 202305895 202305895 single base substitution T C upstream_gene_variant PACA-CA 1 202308318 202308318 single base substitution T G intron_variant PACA-CA 1 202308318 202308318 single base substitution T G upstream_gene_variant PACA-CA 1 202311200 202311200 single base substitution A T upstream_gene_variant PACA-CA 1 202311551 202311551 single base substitution T G upstream_gene_variant PACA-CA 1 202313050 202313050 single base substitution A G upstream_gene_variant PBCA-DE 1 202298764 202298764 single base substitution G C downstream_gene_variant PRAD-CA 1 202308624 202308624 single base substitution A C intron_variant PRAD-CA 1 202308624 202308624 single base substitution A C upstream_gene_variant SKCA-BR 1 202295831 202295831 single base substitution G A downstream_gene_variant SKCA-BR 1 202300339 202300339 single base substitution G A downstream_gene_variant SKCA-BR 1 202301291 202301291 single base substitution A G downstream_gene_variant SKCA-BR 1 202301291 202301291 single base substitution A G intron_variant SKCA-BR 1 202304268 202304268 single base substitution G A intron_variant SKCA-BR 1 202311112 202311112 single base substitution C T upstream_gene_variant SKCA-BR 1 202315579 202315579 single base substitution G A upstream_gene_variant STAD-US 1 202301044 202301044 single base substitution G A downstream_gene_variant STAD-US 1 202301044 202301044 single base substitution G A exon_variant STAD-US 1 202301044 202301044 single base substitution G A synonymous_variant D171D 513C>T STAD-US 1 202304780 202304780 single base substitution G A exon_variant STAD-US 1 202304780 202304780 single base substitution G A stop_gained R35* 103C>T STAD-US 1 202304853 202304854 deletion of <=200bp CT - exon_variant STAD-US 1 202304853 202304854 deletion of <=200bp CT - frameshift_variant E10 THCA-SA 1 202304868 202304868 single base substitution T C exon_variant THCA-SA 1 202304868 202304868 single base substitution T C synonymous_variant S5S 15A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D8-A1J8-01 COSM3803488 c.475G>A p.E159K Substitution - Missense 1:202331954-202331954 - CSCC-27-T COSM4478819 c.226C>T p.H76Y Substitution - Missense 1:202333509-202333509 - TCGA-AC-A5XS-01 COSM4391245 c.270C>T p.L90L Substitution - coding silent 1:202333465-202333465 - LUAD-S01357 COSM386208 c.369G>C p.P123P Substitution - coding silent 1:202333252-202333252 - TCGA-AA-3811-01 COSM5107940 c.153delT p.F51fs*3 Deletion - Frameshift 1:202335015-202335015 - TCGA-D8-A1JG-01 COSM1473263 c.104G>A p.R35Q Substitution - Missense 1:202335651-202335651 - 587350 COSM267712 c.59delC p.P20fs*20 Deletion - Frameshift 1:202335696-202335696 - 2250197 COSM5029597 c.592T>C p.*198Q Nonstop extension 1:202331837-202331837 - RMS2030 COSM5880501 c.224A>C p.Y75S Substitution - Missense 1:202333511-202333511 - 3N24-VS-3T24 COSM4979664 c.447G>T p.K149N Substitution - Missense 1:202333031-202333031 - TCGA-BR-8680-01 COSM4027051 c.513C>T p.D171D Substitution - coding silent 1:202331916-202331916 - KM12 COSM2212977 c.31C>T p.L11L Substitution - coding silent 1:202335724-202335724 - SNUH_G10_S1 COSM3750772 c.15A>G p.S5S Substitution - coding silent 1:202335740-202335740 - SCC-9 COSM2212974 c.119G>T p.G40V Substitution - Missense 1:202335049-202335049 - TCGA-AM-5821-01 COSM3750772 c.15A>G p.S5S Substitution - coding silent 1:202335740-202335740 - 587356 COSM1231558 c.103C>T p.R35* Substitution - Nonsense 1:202335652-202335652 - LUAD-S01478 COSM399855 c.124G>T p.A42S Substitution - Missense 1:202335044-202335044 - YUDATE COSM1689627 c.311T>C p.I104T Substitution - Missense 1:202333310-202333310 - TCGA-BR-4363-01 COSM1231558 c.103C>T p.R35* Substitution - Nonsense 1:202335652-202335652 - ME009T COSM222622 c.187T>C p.F63L Substitution - Missense 1:202333548-202333548 - TCGA-AA-3672-01 COSM267712 c.59delC p.P20fs*20 Deletion - Frameshift 1:202335696-202335696 - pfg082T COSM4764388 c.92T>A p.M31K Substitution - Missense 1:202335663-202335663 - T14 COSM3750772 c.15A>G p.S5S Substitution - coding silent 1:202335740-202335740 - PCSI_0303_Pa_P_526 COSM3785113 c.166A>G p.I56V Substitution - Missense 1:202335002-202335002 - TCGA-IR-A3LA-01 COSM4845344 c.306C>T p.L102L Substitution - coding silent 1:202333315-202333315 - TCGA-CA-6717-01 COSM1337902 c.109C>T p.Q37* Substitution - Nonsense 1:202335646-202335646 - RK254_C01 COSM4945699 c.455G>T p.R152I Substitution - Missense 1:202333023-202333023 - 2492729 COSM5728043 c.505G>T p.A169S Substitution - Missense 1:202331924-202331924 - Pat_24_B COSM5845139 c.205C>T p.R69* Substitution - Nonsense 1:202333530-202333530 - TCGA-LP-A4AX-01 COSM4829831 c.361G>A p.D121N Substitution - Missense 1:202333260-202333260 - T3080 COSM4738712 c.417C>T p.F139F Substitution - coding silent 1:202333061-202333061 - ZZUFHECRKL-G052T COSM5431325 c.235A>T p.I79F Substitution - Missense 1:202333500-202333500 - TCGA-37-5819-01 COSM678135 c.385-2A>T p.? Unknown 1:202333095-202333095 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.5199 1q32.1 610538

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F63L c.187T>C 1 202302676 CM C A Missense p.K182N c.546G>T 1 202301011 LUAD C T Missense p.R35Q c.104G>A 1 202304779 BRCA G A IntronicSNV . c.384+18C>T 1 202302347 CM G A Nonsense p.R35* c.103C>T 1 202304780 STAD T A SpliceAcceptorSNV . c.385-2A>T 1 202302223 LUSC