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 17 4848226 4848226 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr17:4848226C>A c.968C>A c.(967-969)tCc>tAc p.S323Y BLCA 17 4848289 4848289 + Missense_Mutation SNP C C G TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr17:4848289C>G c.1031C>G c.(1030-1032)tCt>tGt p.S344C CESC 17 4844434 4844434 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:4844434G>A c.147G>A c.(145-147)ttG>ttA p.L49L COAD 17 4848060 4848060 + Missense_Mutation SNP T T C TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:4848060T>C c.802T>C c.(802-804)Tgc>Cgc p.C268R COAD 17 4848102 4848102 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr17:4848102G>A c.844G>A c.(844-846)Gaa>Aaa p.E282K COAD 17 4848244 4848244 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr17:4848244T>C c.986T>C c.(985-987)cTt>cCt p.L329P COADREAD 17 4848060 4848060 + Missense_Mutation SNP T T C TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:4848060T>C c.802T>C c.(802-804)Tgc>Cgc p.C268R COADREAD 17 4848102 4848102 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr17:4848102G>A c.844G>A c.(844-846)Gaa>Aaa p.E282K COADREAD 17 4848244 4848244 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr17:4848244T>C c.986T>C c.(985-987)cTt>cCt p.L329P ESCA 17 4846522 4846522 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 g.chr17:4846522C>T c.519C>T c.(517-519)taC>taT p.Y173Y ESCA 17 4846563 4846563 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr17:4846563C>T c.560C>T c.(559-561)gCc>gTc p.A187V ESCA 17 4847881 4847881 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr17:4847881C>T c.699C>T c.(697-699)tgC>tgT p.C233C GBMLGG 17 4844395 4844395 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:4844395G>T c.108G>T c.(106-108)atG>atT p.M36I GBMLGG 17 4848111 4848111 + Nonsense_Mutation SNP G G T TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chr17:4848111G>T c.853G>T c.(853-855)Gag>Tag p.E285* HNSC 17 4847869 4847869 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 g.chr17:4847869C>T c.687C>T c.(685-687)gtC>gtT p.V229V KICH 17 4845935 4845935 + Missense_Mutation SNP C C T TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr17:4845935C>T c.355C>T c.(355-357)Ctt>Ttt p.L119F KIPAN 17 4845935 4845935 + Missense_Mutation SNP C C T TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr17:4845935C>T c.355C>T c.(355-357)Ctt>Ttt p.L119F LGG 17 4844395 4844395 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:4844395G>T c.108G>T c.(106-108)atG>atT p.M36I LGG 17 4848111 4848111 + Nonsense_Mutation SNP G G T TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chr17:4848111G>T c.853G>T c.(853-855)Gag>Tag p.E285* LIHC 17 4848077 4848077 + Silent SNP G G A TCGA-DD-AAVS-01A-11D-A40R-10 TCGA-DD-AAVS-10A-01D-A40U-10 g.chr17:4848077G>A c.819G>A c.(817-819)caG>caA p.Q273Q LUAD 17 4848207 4848207 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr17:4848207C>G c.949C>G c.(949-951)Ctt>Gtt p.L317V LUSC 17 4848088 4848088 + Missense_Mutation SNP G G T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:4848088G>T c.830G>T c.(829-831)cGg>cTg p.R277L SARC 17 4844429 4844429 + Missense_Mutation SNP A A T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 g.chr17:4844429A>T c.142A>T c.(142-144)Acc>Tcc p.T48S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 4841459 4841459 single base substitution C T upstream_gene_variant BLCA-CN 17 4849265 4849265 single base substitution C G downstream_gene_variant BLCA-CN 17 4850085 4850085 single base substitution C A downstream_gene_variant BLCA-US 17 4841188 4841188 single base substitution C T upstream_gene_variant BLCA-US 17 4841336 4841336 single base substitution C T upstream_gene_variant BLCA-US 17 4849269 4849269 single base substitution C G downstream_gene_variant BLCA-US 17 4849962 4849962 single base substitution C T downstream_gene_variant BRCA-EU 17 4838693 4838693 single base substitution T C upstream_gene_variant BRCA-EU 17 4838775 4838775 single base substitution T C upstream_gene_variant BRCA-EU 17 4839608 4839608 single base substitution G A upstream_gene_variant BRCA-EU 17 4841631 4841631 single base substitution C T upstream_gene_variant BRCA-EU 17 4842387 4842387 single base substitution C G upstream_gene_variant BRCA-EU 17 4843256 4843256 single base substitution C G upstream_gene_variant BRCA-EU 17 4844871 4844871 single base substitution T G downstream_gene_variant BRCA-EU 17 4844871 4844871 single base substitution T G intron_variant BRCA-EU 17 4844871 4844871 single base substitution T G upstream_gene_variant BRCA-EU 17 4845800 4845800 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 4845800 4845800 deletion of <=200bp A - intron_variant BRCA-EU 17 4845800 4845800 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 4846393 4846393 single base substitution G C downstream_gene_variant BRCA-EU 17 4846393 4846393 single base substitution G C exon_variant BRCA-EU 17 4846393 4846393 single base substitution G C intron_variant BRCA-EU 17 4846393 4846393 single base substitution G C upstream_gene_variant BRCA-EU 17 4846955 4846955 single base substitution T A downstream_gene_variant BRCA-EU 17 4846955 4846955 single base substitution T A intron_variant BRCA-EU 17 4846955 4846955 single base substitution T A upstream_gene_variant BRCA-EU 17 4847294 4847294 single base substitution T A downstream_gene_variant BRCA-EU 17 4847294 4847294 single base substitution T A intron_variant BRCA-EU 17 4847294 4847294 single base substitution T A upstream_gene_variant BRCA-EU 17 4848479 4848479 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 4848479 4848479 single base substitution C T downstream_gene_variant BRCA-EU 17 4849669 4849669 single base substitution A C downstream_gene_variant BRCA-EU 17 4852245 4852245 single base substitution C G downstream_gene_variant BRCA-EU 17 4852259 4852259 single base substitution G C downstream_gene_variant BRCA-EU 17 4852527 4852527 single base substitution C G downstream_gene_variant BRCA-EU 17 4852765 4852765 single base substitution G C downstream_gene_variant BRCA-FR 17 4848479 4848479 single base substitution C T 3_prime_UTR_variant BRCA-FR 17 4848479 4848479 single base substitution C T downstream_gene_variant BRCA-FR 17 4848747 4848747 single base substitution C T downstream_gene_variant BRCA-UK 17 4838693 4838693 single base substitution T C upstream_gene_variant BRCA-UK 17 4841833 4841833 single base substitution C G upstream_gene_variant BRCA-UK 17 4850018 4850018 single base substitution G A downstream_gene_variant BRCA-US 17 4841316 4841316 single base substitution A C upstream_gene_variant BRCA-US 17 4841331 4841331 single base substitution T C upstream_gene_variant BRCA-US 17 4842372 4842372 single base substitution C G upstream_gene_variant BRCA-US 17 4843816 4843816 single base substitution G A 5_prime_UTR_variant BRCA-US 17 4843816 4843816 single base substitution G A exon_variant BRCA-US 17 4843816 4843816 single base substitution G A intron_variant BRCA-US 17 4843816 4843816 single base substitution G A upstream_gene_variant BRCA-US 17 4843979 4843979 single base substitution A G 5_prime_UTR_variant BRCA-US 17 4843979 4843979 single base substitution A G exon_variant BRCA-US 17 4843979 4843979 single base substitution A G intron_variant BRCA-US 17 4843979 4843979 single base substitution A G upstream_gene_variant BRCA-US 17 4847936 4847936 single base substitution G T downstream_gene_variant BRCA-US 17 4847936 4847936 single base substitution G T intron_variant BRCA-US 17 4847936 4847936 single base substitution G T splice_region_variant BRCA-US 17 4847936 4847936 single base substitution G T stop_gained E141* 421G>T BRCA-US 17 4849196 4849196 single base substitution C T downstream_gene_variant BTCA-JP 17 4843120 4843120 single base substitution C T upstream_gene_variant BTCA-JP 17 4844528 4844528 single base substitution G A downstream_gene_variant BTCA-JP 17 4844528 4844528 single base substitution G A intron_variant BTCA-JP 17 4844528 4844528 single base substitution G A upstream_gene_variant BTCA-JP 17 4845800 4845800 deletion of <=200bp A - downstream_gene_variant BTCA-JP 17 4845800 4845800 deletion of <=200bp A - intron_variant BTCA-JP 17 4845800 4845800 deletion of <=200bp A - upstream_gene_variant CESC-US 17 4842251 4842251 single base substitution G A upstream_gene_variant CESC-US 17 4844434 4844434 single base substitution G A downstream_gene_variant CESC-US 17 4844434 4844434 single base substitution G A exon_variant CESC-US 17 4844434 4844434 single base substitution G A intron_variant CESC-US 17 4844434 4844434 single base substitution G A synonymous_variant L14L 42G>A CESC-US 17 4844434 4844434 single base substitution G A synonymous_variant L49L 147G>A CESC-US 17 4844434 4844434 single base substitution G A upstream_gene_variant COAD-US 17 4841055 4841055 single base substitution C T upstream_gene_variant COAD-US 17 4842149 4842149 single base substitution C T upstream_gene_variant COAD-US 17 4842509 4842509 insertion of <=200bp - G upstream_gene_variant COAD-US 17 4847913 4847913 single base substitution G A 3_prime_UTR_variant COAD-US 17 4847913 4847913 single base substitution G A downstream_gene_variant COAD-US 17 4847913 4847913 single base substitution G A exon_variant COAD-US 17 4847913 4847913 single base substitution G A intron_variant COAD-US 17 4847913 4847913 single base substitution G A missense_variant R133Q 398G>A COAD-US 17 4847913 4847913 single base substitution G A missense_variant R209Q 626G>A COAD-US 17 4847913 4847913 single base substitution G A missense_variant R244Q 731G>A COAD-US 17 4848026 4848026 single base substitution C T 3_prime_UTR_variant COAD-US 17 4848026 4848026 single base substitution C T downstream_gene_variant COAD-US 17 4848026 4848026 single base substitution C T exon_variant COAD-US 17 4848026 4848026 single base substitution C T missense_variant R171C 511C>T COAD-US 17 4848026 4848026 single base substitution C T missense_variant R36C 106C>T COAD-US 17 4848026 4848026 single base substitution C T synonymous_variant C221C 663C>T COAD-US 17 4848026 4848026 single base substitution C T synonymous_variant C256C 768C>T COCA-CN 17 4844326 4844326 single base substitution G T downstream_gene_variant COCA-CN 17 4844326 4844326 single base substitution G T intron_variant COCA-CN 17 4844326 4844326 single base substitution G T upstream_gene_variant COCA-CN 17 4846710 4846710 single base substitution G A downstream_gene_variant COCA-CN 17 4846710 4846710 single base substitution G A exon_variant COCA-CN 17 4846710 4846710 single base substitution G A intron_variant COCA-CN 17 4846710 4846710 single base substitution G A upstream_gene_variant COCA-CN 17 4846855 4846855 single base substitution A G downstream_gene_variant COCA-CN 17 4846855 4846855 single base substitution A G intron_variant COCA-CN 17 4846855 4846855 single base substitution A G upstream_gene_variant COCA-CN 17 4848252 4848252 single base substitution C A 3_prime_UTR_variant COCA-CN 17 4848252 4848252 single base substitution C A downstream_gene_variant COCA-CN 17 4848252 4848252 single base substitution C A missense_variant P297T 889C>A COCA-CN 17 4848252 4848252 single base substitution C A missense_variant P332T 994C>A ESAD-UK 17 4840009 4840009 single base substitution C T upstream_gene_variant ESAD-UK 17 4844148 4844148 single base substitution C T 5_prime_UTR_variant ESAD-UK 17 4844148 4844148 single base substitution C T downstream_gene_variant ESAD-UK 17 4844148 4844148 single base substitution C T exon_variant ESAD-UK 17 4844148 4844148 single base substitution C T intron_variant ESAD-UK 17 4844148 4844148 single base substitution C T upstream_gene_variant ESAD-UK 17 4848192 4848192 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 4848192 4848192 single base substitution G A downstream_gene_variant ESAD-UK 17 4848192 4848192 single base substitution G A missense_variant G277S 829G>A ESAD-UK 17 4848192 4848192 single base substitution G A missense_variant G312S 934G>A ESAD-UK 17 4848319 4848319 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 4848319 4848319 single base substitution C A downstream_gene_variant ESAD-UK 17 4849607 4849607 single base substitution G A downstream_gene_variant ESAD-UK 17 4850406 4850406 single base substitution G A downstream_gene_variant ESCA-CN 17 4850312 4850312 single base substitution G C downstream_gene_variant GBM-US 17 4842250 4842250 single base substitution C T upstream_gene_variant KIRP-US 17 4848277 4848277 single base substitution T C 3_prime_UTR_variant KIRP-US 17 4848277 4848277 single base substitution T C downstream_gene_variant KIRP-US 17 4848277 4848277 single base substitution T C missense_variant L305P 914T>C KIRP-US 17 4848277 4848277 single base substitution T C missense_variant L340P 1019T>C LINC-JP 17 4842624 4842624 single base substitution G A upstream_gene_variant LINC-JP 17 4847900 4847900 single base substitution G A 3_prime_UTR_variant LINC-JP 17 4847900 4847900 single base substitution G A downstream_gene_variant LINC-JP 17 4847900 4847900 single base substitution G A exon_variant LINC-JP 17 4847900 4847900 single base substitution G A intron_variant LINC-JP 17 4847900 4847900 single base substitution G A missense_variant G129R 385G>A LINC-JP 17 4847900 4847900 single base substitution G A missense_variant G205R 613G>A LINC-JP 17 4847900 4847900 single base substitution G A missense_variant G240R 718G>A LINC-JP 17 4849578 4849578 single base substitution G T downstream_gene_variant LIRI-JP 17 4839410 4839410 single base substitution G T upstream_gene_variant LIRI-JP 17 4841131 4841131 single base substitution G A upstream_gene_variant LIRI-JP 17 4841877 4841877 single base substitution C T upstream_gene_variant LUSC-KR 17 4840377 4840377 single base substitution G A upstream_gene_variant LUSC-KR 17 4844795 4844795 single base substitution T A downstream_gene_variant LUSC-KR 17 4844795 4844795 single base substitution T A intron_variant LUSC-KR 17 4844795 4844795 single base substitution T A upstream_gene_variant LUSC-KR 17 4847476 4847476 single base substitution G A downstream_gene_variant LUSC-KR 17 4847476 4847476 single base substitution G A intron_variant LUSC-KR 17 4847476 4847476 single base substitution G A upstream_gene_variant LUSC-KR 17 4849284 4849284 single base substitution G A downstream_gene_variant LUSC-KR 17 4849384 4849384 single base substitution C T downstream_gene_variant LUSC-KR 17 4852014 4852014 single base substitution G A downstream_gene_variant LUSC-US 17 4841830 4841830 single base substitution C G upstream_gene_variant LUSC-US 17 4843194 4843194 single base substitution C A upstream_gene_variant LUSC-US 17 4848088 4848088 single base substitution G T 3_prime_UTR_variant LUSC-US 17 4848088 4848088 single base substitution G T downstream_gene_variant LUSC-US 17 4848088 4848088 single base substitution G T exon_variant LUSC-US 17 4848088 4848088 single base substitution G T missense_variant R242L 725G>T LUSC-US 17 4848088 4848088 single base substitution G T missense_variant R277L 830G>T LUSC-US 17 4848088 4848088 single base substitution G T synonymous_variant S191S 573G>T LUSC-US 17 4848088 4848088 single base substitution G T synonymous_variant S56S 168G>T MALY-DE 17 4841696 4841696 single base substitution A G upstream_gene_variant MALY-DE 17 4842018 4842018 single base substitution G C upstream_gene_variant MALY-DE 17 4845214 4845214 insertion of <=200bp - T downstream_gene_variant MALY-DE 17 4845214 4845214 insertion of <=200bp - T intron_variant MALY-DE 17 4845214 4845214 insertion of <=200bp - T upstream_gene_variant MALY-DE 17 4847382 4847382 single base substitution G A downstream_gene_variant MALY-DE 17 4847382 4847382 single base substitution G A intron_variant MALY-DE 17 4847382 4847382 single base substitution G A upstream_gene_variant MALY-DE 17 4850858 4850858 single base substitution G A downstream_gene_variant MALY-DE 17 4851354 4851354 single base substitution G A downstream_gene_variant MALY-DE 17 4851383 4851383 single base substitution C G downstream_gene_variant MALY-DE 17 4851557 4851557 single base substitution C T downstream_gene_variant MALY-DE 17 4851678 4851678 single base substitution C T downstream_gene_variant MALY-DE 17 4851747 4851747 single base substitution G A downstream_gene_variant MELA-AU 17 4838502 4838502 single base substitution G A upstream_gene_variant MELA-AU 17 4838837 4838837 single base substitution G A upstream_gene_variant MELA-AU 17 4839141 4839141 single base substitution G T upstream_gene_variant MELA-AU 17 4839910 4839910 single base substitution A G upstream_gene_variant MELA-AU 17 4839996 4839996 single base substitution G A upstream_gene_variant MELA-AU 17 4840351 4840353 multiple base substitution (>=2bp and <=200bp) GGA AAT upstream_gene_variant MELA-AU 17 4840494 4840495 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 4841195 4841195 single base substitution G C upstream_gene_variant MELA-AU 17 4841674 4841674 single base substitution G A upstream_gene_variant MELA-AU 17 4842618 4842618 single base substitution G A upstream_gene_variant MELA-AU 17 4842751 4842751 single base substitution G A upstream_gene_variant MELA-AU 17 4843846 4843846 single base substitution C T 5_prime_UTR_variant MELA-AU 17 4843846 4843846 single base substitution C T exon_variant MELA-AU 17 4843846 4843846 single base substitution C T intron_variant MELA-AU 17 4843846 4843846 single base substitution C T upstream_gene_variant MELA-AU 17 4845297 4845297 single base substitution C T downstream_gene_variant MELA-AU 17 4845297 4845297 single base substitution C T intron_variant MELA-AU 17 4845297 4845297 single base substitution C T upstream_gene_variant MELA-AU 17 4845313 4845313 single base substitution A G downstream_gene_variant MELA-AU 17 4845313 4845313 single base substitution A G intron_variant MELA-AU 17 4845313 4845313 single base substitution A G upstream_gene_variant MELA-AU 17 4846060 4846060 single base substitution T A downstream_gene_variant MELA-AU 17 4846060 4846060 single base substitution T A intron_variant MELA-AU 17 4846060 4846060 single base substitution T A upstream_gene_variant MELA-AU 17 4846528 4846528 single base substitution C G downstream_gene_variant MELA-AU 17 4846528 4846528 single base substitution C G exon_variant MELA-AU 17 4846528 4846528 single base substitution C G intron_variant MELA-AU 17 4846528 4846528 single base substitution C G missense_variant I140M 420C>G MELA-AU 17 4846528 4846528 single base substitution C G missense_variant I175M 525C>G MELA-AU 17 4846528 4846528 single base substitution C G missense_variant I64M 192C>G MELA-AU 17 4846528 4846528 single base substitution C G upstream_gene_variant MELA-AU 17 4846822 4846822 single base substitution G A downstream_gene_variant MELA-AU 17 4846822 4846822 single base substitution G A intron_variant MELA-AU 17 4846822 4846822 single base substitution G A splice_region_variant MELA-AU 17 4846822 4846822 single base substitution G A upstream_gene_variant MELA-AU 17 4848111 4848111 single base substitution G A 3_prime_UTR_variant MELA-AU 17 4848111 4848111 single base substitution G A downstream_gene_variant MELA-AU 17 4848111 4848111 single base substitution G A exon_variant MELA-AU 17 4848111 4848111 single base substitution G A missense_variant E250K 748G>A MELA-AU 17 4848111 4848111 single base substitution G A missense_variant E285K 853G>A MELA-AU 17 4848111 4848111 single base substitution G A missense_variant R199K 596G>A MELA-AU 17 4848111 4848111 single base substitution G A missense_variant R64K 191G>A MELA-AU 17 4848308 4848308 single base substitution C T 3_prime_UTR_variant MELA-AU 17 4848308 4848308 single base substitution C T downstream_gene_variant MELA-AU 17 4848308 4848308 single base substitution C T synonymous_variant V315V 945C>T MELA-AU 17 4848308 4848308 single base substitution C T synonymous_variant V350V 1050C>T MELA-AU 17 4849730 4849730 single base substitution G A downstream_gene_variant MELA-AU 17 4851296 4851297 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 4851702 4851703 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 4851929 4851929 single base substitution C T downstream_gene_variant MELA-AU 17 4852365 4852365 single base substitution C G downstream_gene_variant ORCA-IN 17 4845639 4845639 single base substitution T A downstream_gene_variant ORCA-IN 17 4845639 4845639 single base substitution T A exon_variant ORCA-IN 17 4845639 4845639 single base substitution T A missense_variant F22I 64T>A ORCA-IN 17 4845639 4845639 single base substitution T A missense_variant F57I 169T>A ORCA-IN 17 4845639 4845639 single base substitution T A upstream_gene_variant OV-AU 17 4841741 4841741 single base substitution G A upstream_gene_variant OV-AU 17 4842576 4842576 single base substitution C T upstream_gene_variant OV-AU 17 4851872 4851872 single base substitution C T downstream_gene_variant OV-AU 17 4852445 4852445 single base substitution C T downstream_gene_variant PACA-AU 17 4840571 4840571 single base substitution C T upstream_gene_variant PACA-AU 17 4849458 4849458 insertion of <=200bp - T downstream_gene_variant PACA-AU 17 4853276 4853276 single base substitution G A downstream_gene_variant PACA-CA 17 4841464 4841464 single base substitution T C upstream_gene_variant PACA-CA 17 4846600 4846600 single base substitution G A downstream_gene_variant PACA-CA 17 4846600 4846600 single base substitution G A exon_variant PACA-CA 17 4846600 4846600 single base substitution G A intron_variant PACA-CA 17 4846600 4846600 single base substitution G A upstream_gene_variant PACA-CA 17 4848479 4848479 single base substitution C T 3_prime_UTR_variant PACA-CA 17 4848479 4848479 single base substitution C T downstream_gene_variant PACA-CA 17 4849308 4849309 deletion of <=200bp AG - downstream_gene_variant PAEN-IT 17 4840871 4840871 single base substitution C A upstream_gene_variant PBCA-DE 17 4838631 4838631 single base substitution C T upstream_gene_variant PRAD-CA 17 4849736 4849736 single base substitution C T downstream_gene_variant PRAD-CA 17 4851596 4851596 single base substitution A T downstream_gene_variant PRAD-UK 17 4844431 4844431 single base substitution C T downstream_gene_variant PRAD-UK 17 4844431 4844431 single base substitution C T exon_variant PRAD-UK 17 4844431 4844431 single base substitution C T intron_variant PRAD-UK 17 4844431 4844431 single base substitution C T synonymous_variant T13T 39C>T PRAD-UK 17 4844431 4844431 single base substitution C T synonymous_variant T48T 144C>T PRAD-UK 17 4844431 4844431 single base substitution C T upstream_gene_variant PRAD-UK 17 4851768 4851768 single base substitution G A downstream_gene_variant PRAD-US 17 4850039 4850041 deletion of <=200bp TTC - downstream_gene_variant RECA-EU 17 4842804 4842804 single base substitution A G upstream_gene_variant RECA-EU 17 4845761 4845761 single base substitution G T downstream_gene_variant RECA-EU 17 4845761 4845761 single base substitution G T missense_variant K62N 186G>T RECA-EU 17 4845761 4845761 single base substitution G T missense_variant K97N 291G>T RECA-EU 17 4845761 4845761 single base substitution G T splice_region_variant RECA-EU 17 4845761 4845761 single base substitution G T upstream_gene_variant RECA-EU 17 4847018 4847018 single base substitution C T downstream_gene_variant RECA-EU 17 4847018 4847018 single base substitution C T intron_variant RECA-EU 17 4847018 4847018 single base substitution C T upstream_gene_variant RECA-EU 17 4848204 4848204 single base substitution A C 3_prime_UTR_variant RECA-EU 17 4848204 4848204 single base substitution A C downstream_gene_variant RECA-EU 17 4848204 4848204 single base substitution A C missense_variant T281P 841A>C RECA-EU 17 4848204 4848204 single base substitution A C missense_variant T316P 946A>C SKCA-BR 17 4838598 4838598 insertion of <=200bp - TAA upstream_gene_variant SKCA-BR 17 4838688 4838688 single base substitution T G upstream_gene_variant SKCA-BR 17 4838752 4838752 single base substitution T A upstream_gene_variant SKCA-BR 17 4841997 4841997 single base substitution A T upstream_gene_variant SKCA-BR 17 4842685 4842685 single base substitution G A upstream_gene_variant SKCA-BR 17 4842911 4842911 single base substitution T G upstream_gene_variant SKCA-BR 17 4843172 4843172 single base substitution T C upstream_gene_variant SKCA-BR 17 4843657 4843657 single base substitution T G intron_variant SKCA-BR 17 4843657 4843657 single base substitution T G splice_donor_variant SKCA-BR 17 4843657 4843657 single base substitution T G upstream_gene_variant SKCA-BR 17 4847356 4847356 single base substitution T C downstream_gene_variant SKCA-BR 17 4847356 4847356 single base substitution T C intron_variant SKCA-BR 17 4847356 4847356 single base substitution T C upstream_gene_variant SKCA-BR 17 4849404 4849404 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 17 4850183 4850183 single base substitution A C downstream_gene_variant SKCA-BR 17 4851298 4851298 single base substitution T C downstream_gene_variant SKCA-BR 17 4851772 4851772 single base substitution A G downstream_gene_variant SKCA-BR 17 4851858 4851858 single base substitution T C downstream_gene_variant SKCM-US 17 4841131 4841131 single base substitution G A upstream_gene_variant SKCM-US 17 4841164 4841164 single base substitution C T upstream_gene_variant SKCM-US 17 4841656 4841656 single base substitution G A upstream_gene_variant SKCM-US 17 4841674 4841674 single base substitution G A upstream_gene_variant SKCM-US 17 4842173 4842173 single base substitution G A upstream_gene_variant SKCM-US 17 4842408 4842408 single base substitution G A upstream_gene_variant SKCM-US 17 4848235 4848235 single base substitution C T 3_prime_UTR_variant SKCM-US 17 4848235 4848235 single base substitution C T downstream_gene_variant SKCM-US 17 4848235 4848235 single base substitution C T missense_variant P291L 872C>T SKCM-US 17 4848235 4848235 single base substitution C T missense_variant P326L 977C>T STAD-US 17 4841682 4841682 single base substitution C T upstream_gene_variant STAD-US 17 4841845 4841845 single base substitution G A upstream_gene_variant STAD-US 17 4842264 4842264 single base substitution C T upstream_gene_variant STAD-US 17 4844271 4844271 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 17 4844271 4844271 insertion of <=200bp - G downstream_gene_variant STAD-US 17 4844271 4844271 insertion of <=200bp - G exon_variant STAD-US 17 4844271 4844271 insertion of <=200bp - G frameshift_variant R23A? STAD-US 17 4844271 4844271 insertion of <=200bp - G intron_variant STAD-US 17 4844271 4844271 insertion of <=200bp - G upstream_gene_variant STAD-US 17 4844272 4844272 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 17 4844272 4844272 insertion of <=200bp - G downstream_gene_variant STAD-US 17 4844272 4844272 insertion of <=200bp - G exon_variant STAD-US 17 4844272 4844272 insertion of <=200bp - G frameshift_variant R23R? STAD-US 17 4844272 4844272 insertion of <=200bp - G intron_variant STAD-US 17 4844272 4844272 insertion of <=200bp - G upstream_gene_variant STAD-US 17 4846214 4846214 single base substitution G A downstream_gene_variant STAD-US 17 4846214 4846214 single base substitution G A exon_variant STAD-US 17 4846214 4846214 single base substitution G A missense_variant A115T 343G>A STAD-US 17 4846214 4846214 single base substitution G A missense_variant A150T 448G>A STAD-US 17 4846214 4846214 single base substitution G A missense_variant A23T 67G>A STAD-US 17 4846214 4846214 single base substitution G A missense_variant A39T 115G>A STAD-US 17 4846214 4846214 single base substitution G A upstream_gene_variant STAD-US 17 4846555 4846555 single base substitution G T downstream_gene_variant STAD-US 17 4846555 4846555 single base substitution G T exon_variant STAD-US 17 4846555 4846555 single base substitution G T intron_variant STAD-US 17 4846555 4846555 single base substitution G T synonymous_variant L149L 447G>T STAD-US 17 4846555 4846555 single base substitution G T synonymous_variant L184L 552G>T STAD-US 17 4846555 4846555 single base substitution G T synonymous_variant L73L 219G>T STAD-US 17 4846555 4846555 single base substitution G T upstream_gene_variant STAD-US 17 4848022 4848022 single base substitution G A 3_prime_UTR_variant STAD-US 17 4848022 4848022 single base substitution G A downstream_gene_variant STAD-US 17 4848022 4848022 single base substitution G A exon_variant STAD-US 17 4848022 4848022 single base substitution G A missense_variant R220H 659G>A STAD-US 17 4848022 4848022 single base substitution G A missense_variant R255H 764G>A STAD-US 17 4848022 4848022 single base substitution G A synonymous_variant P169P 507G>A STAD-US 17 4848022 4848022 single base substitution G A synonymous_variant P34P 102G>A STAD-US 17 4848061 4848061 single base substitution G A 3_prime_UTR_variant STAD-US 17 4848061 4848061 single base substitution G A downstream_gene_variant STAD-US 17 4848061 4848061 single base substitution G A exon_variant STAD-US 17 4848061 4848061 single base substitution G A missense_variant C233Y 698G>A STAD-US 17 4848061 4848061 single base substitution G A missense_variant C268Y 803G>A STAD-US 17 4848061 4848061 single base substitution G A synonymous_variant L182L 546G>A STAD-US 17 4848061 4848061 single base substitution G A synonymous_variant L47L 141G>A STAD-US 17 4848302 4848302 single base substitution C G 3_prime_UTR_variant STAD-US 17 4848302 4848302 single base substitution C G downstream_gene_variant STAD-US 17 4848302 4848302 single base substitution C G missense_variant I313M 939C>G STAD-US 17 4848302 4848302 single base substitution C G missense_variant I348M 1044C>G UCEC-US 17 4841065 4841065 single base substitution C T upstream_gene_variant UCEC-US 17 4841132 4841132 single base substitution C T upstream_gene_variant UCEC-US 17 4841850 4841850 single base substitution A C upstream_gene_variant UCEC-US 17 4842102 4842102 single base substitution T C upstream_gene_variant UCEC-US 17 4842178 4842178 single base substitution C A upstream_gene_variant UCEC-US 17 4845732 4845732 single base substitution C T downstream_gene_variant UCEC-US 17 4845732 4845732 single base substitution C T exon_variant UCEC-US 17 4845732 4845732 single base substitution C T stop_gained R53* 157C>T UCEC-US 17 4845732 4845732 single base substitution C T stop_gained R88* 262C>T UCEC-US 17 4845732 4845732 single base substitution C T upstream_gene_variant UCEC-US 17 4846728 4846728 single base substitution G A downstream_gene_variant UCEC-US 17 4846728 4846728 single base substitution G A exon_variant UCEC-US 17 4846728 4846728 single base substitution G A intron_variant UCEC-US 17 4846728 4846728 single base substitution G A missense_variant R160H 479G>A UCEC-US 17 4846728 4846728 single base substitution G A missense_variant R195H 584G>A UCEC-US 17 4846728 4846728 single base substitution G A missense_variant R84H 251G>A UCEC-US 17 4846728 4846728 single base substitution G A upstream_gene_variant UCEC-US 17 4848217 4848217 single base substitution C G 3_prime_UTR_variant UCEC-US 17 4848217 4848217 single base substitution C G downstream_gene_variant UCEC-US 17 4848217 4848217 single base substitution C G missense_variant S285C 854C>G UCEC-US 17 4848217 4848217 single base substitution C G missense_variant S320C 959C>G UCEC-US 17 4849935 4849935 single base substitution T C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C0007T COSM4151662 c.291G>T p.K97N Substitution - Missense 17:4942466-4942466 + CSCC-37-T COSM4457226 c.1037C>T p.P346L Substitution - Missense 17:4945000-4945000 + CHEWS002 COSM4579830 c.324C>T p.A108A Substitution - coding silent 17:4942609-4942609 + TCGA-BR-7196-01 COSM4067614 c.1044C>G p.I348M Substitution - Missense 17:4945007-4945007 + TCGA-Q1-A73O-01 COSM4834091 c.147G>A p.L49L Substitution - coding silent 17:4941139-4941139 + 1012 COSM5730589 c.1037_1038delCT p.P346fs*>5 Deletion - Frameshift 17:4945000-4945001 + C0015T COSM4151663 c.946A>C p.T316P Substitution - Missense 17:4944909-4944909 + U2940 COSM5621709 c.953C>T p.P318L Substitution - Missense 17:4944916-4944916 + YUMOBER COSM5386657 c.232G>A p.V78I Substitution - Missense 17:4942407-4942407 + 186T COSM1726443 c.440A>G p.Y147C Substitution - Missense 17:4942911-4942911 + G5 COSM1191734 c.62C>A p.P21Q Substitution - Missense 17:4940971-4940971 + 169 COSM3728697 c.804C>T p.C268C Substitution - coding silent 17:4944767-4944767 + HCC151T COSM3717456 c.718G>A p.G240R Substitution - Missense 17:4944605-4944605 + TCGA-CD-A4MG-01 COSM4067605 c.448G>A p.A150T Substitution - Missense 17:4942919-4942919 + I2L-P24Tb-Tumor-Organoid COSM5364236 c.435C>T p.S145S Substitution - coding silent 17:4942906-4942906 + ESCC_68 COSM5633876 c.1017A>G p.P339P Substitution - coding silent 17:4944980-4944980 + 2290929 COSM4440442 c.1012delC p.P339fs*>12 Deletion - Frameshift 17:4944975-4944975 + CSCC-56-T COSM4480968 c.246C>T p.V82V Substitution - coding silent 17:4942421-4942421 + TCGA-G4-6320-01 COSM3691674 c.731G>A p.R244Q Substitution - Missense 17:4944618-4944618 + TCGA-AZ-4615-01 COSM3691675 c.768C>T p.C256C Substitution - coding silent 17:4944731-4944731 + OSCC-GB_00630111 COSM4884898 c.169T>A p.F57I Substitution - Missense 17:4942344-4942344 + LC_S41 COSM1189369 c.230C>T p.P77L Substitution - Missense 17:4942405-4942405 + CSCC-20-T COSM4449327 c.204delC p.I70fs*30 Deletion - Frameshift 17:4942379-4942379 + 990172 COSM1582350 c.752C>G p.A251G Substitution - Missense 17:4944715-4944715 + T3049 COSM4722028 c.365T>C p.M122T Substitution - Missense 17:4942650-4942650 + 0063_CRUK_PC_0063_T1_DNA COSM5420801 c.144C>T p.T48T Substitution - coding silent 17:4941136-4941136 + T2940 COSM4722029 c.567A>C p.G189G Substitution - coding silent 17:4943275-4943275 + T407 COSM4722031 c.718delG p.D241fs*84 Deletion - Frameshift 17:4944605-4944605 + TCGA-BR-4201-01 COSM2699198 c.764G>A p.R255H Substitution - Missense 17:4944727-4944727 + TCGA-D1-A167-01 COSM981024 c.584G>A p.R195H Substitution - Missense 17:4943433-4943433 + TCGA-BR-6566-01 COSM4067609 c.552G>T p.L184L Substitution - coding silent 17:4943260-4943260 + TCGA-AA-3672-01 COSM267343 c.802T>C p.C268R Substitution - Missense 17:4944765-4944765 + pfg068T COSM4749093 c.599G>A p.R200Q Substitution - Missense 17:4943448-4943448 + TCGA-AP-A0LI-01 COSM981026 c.959C>G p.S320C Substitution - Missense 17:4944922-4944922 + I2L-P24Tb-Tumor-Biopsy COSM5364236 c.435C>T p.S145S Substitution - coding silent 17:4942906-4942906 + TCGA-GM-A2D9-01 COSM3819931 c.751+3G>T p.? Unknown 17:4944641-4944641 + I2L-P10-Tumor-Organoid COSM5363932 c.550C>T p.L184L Substitution - coding silent 17:4943258-4943258 + T263 COSM4722030 c.680_682delATG p.D228delD Deletion - In frame 17:4944567-4944569 + 587336 COSM1223931 c.614G>A p.R205Q Substitution - Missense 17:4943463-4943463 + TCGA-AX-A0J0-01 COSM981017 c.262C>T p.R88* Substitution - Nonsense 17:4942437-4942437 + SC_9057 COSM5555306 c.997G>C p.G333R Substitution - Missense 17:4944960-4944960 + I2L-P7-Tumor-Organoid COSM5363872 c.741_742delCT p.A249fs*46 Deletion - Frameshift 17:4944628-4944629 + LUAD-S01357 COSM386762 c.293T>G p.V98G Substitution - Missense 17:4942578-4942578 + TCGA-EB-A41A-01 COSM3519080 c.977C>T p.P326L Substitution - Missense 17:4944940-4944940 + Pat_37_B COSM5852878 c.220delC p.P75fs*25 Deletion - Frameshift 17:4942395-4942395 + TCGA-BR-6452-01 COSM4067613 c.803G>A p.C268Y Substitution - Missense 17:4944766-4944766 + HCC151 COSM3717456 c.718G>A p.G240R Substitution - Missense 17:4944605-4944605 + YUKLAB COSM1709625 c.943_945CCC>TTT p.P315F Substitution - Missense 17:4944906-4944908 + TCGA-BQ-7062-01 COSM3989131 c.1019T>C p.L340P Substitution - Missense 17:4944982-4944982 + I2L-P24Ta-Tumor-Organoid COSM5364236 c.435C>T p.S145S Substitution - coding silent 17:4942906-4942906 + TCGA-18-3409-01 COSM706954 c.830G>T p.R277L Substitution - Missense 17:4944793-4944793 + BZ26 COSM5760500 c.1027C>T p.P343S Substitution - Missense 17:4944990-4944990 + 429 COSM4433279 c.703G>T p.D235Y Substitution - Missense 17:4944590-4944590 + I2L-P24Ta-Tumor-Biopsy COSM5364236 c.435C>T p.S145S Substitution - coding silent 17:4942906-4942906 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.7158 17p13.2 610431 1511917|dbSNP|BC010139|C/G|coding|Asn121Lys|536|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.P63Q c.188C>A 17 4845658 STAD C G Missense p.S320C c.959C>G 17 4848217 UCEC C T Synonymous p.A108A c.324C>T 17 4845904 STAD C T Synonymous p.V229V c.687C>T 17 4847869 HNSC G A Missense p.R255H c.764G>A 17 4848022 STAD