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 76354643 76354643 + Silent SNP C C T TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr17:76354643C>T c.534G>A c.(532-534)ttG>ttA p.L178L BLCA 17 76354650 76354650 + Missense_Mutation SNP A A T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 g.chr17:76354650A>T c.527T>A c.(526-528)cTg>cAg p.L176Q CESC 17 76354722 76354722 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr17:76354722G>A c.455C>T c.(454-456)tCt>tTt p.S152F CESC 17 76354826 76354826 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr17:76354826G>A c.351C>T c.(349-351)ttC>ttT p.F117F CESC 17 76354877 76354878 + Frame_Shift_Ins INS - - C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 g.chr17:76354877_76354878insC c.299_300insG c.(298-300)ggcfs p.G100fs CESC 17 76354963 76354963 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:76354963C>A c.214G>T c.(214-216)Gac>Tac p.D72Y CESC 17 76354970 76354970 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:76354970C>T c.207G>A c.(205-207)ctG>ctA p.L69L CESC 17 76355014 76355014 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:76355014C>T c.163G>A c.(163-165)Gag>Aag p.E55K CESC 17 76355089 76355089 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 g.chr17:76355089C>T c.88G>A c.(88-90)Gag>Aag p.E30K CESC 17 76355093 76355093 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 g.chr17:76355093C>G c.84G>C c.(82-84)aaG>aaC p.K28N COAD 17 76354588 76354588 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:76354588C>T c.589G>A c.(589-591)Gtc>Atc p.V197I COAD 17 76354878 76354878 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:76354878delC c.299delG c.(298-300)ggcfs p.G100fs COAD 17 76354896 76354896 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:76354896C>T c.281G>A c.(280-282)cGc>cAc p.R94H COAD 17 76355017 76355017 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:76355017C>T c.160G>A c.(160-162)Ggc>Agc p.G54S COADREAD 17 76354588 76354588 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:76354588C>T c.589G>A c.(589-591)Gtc>Atc p.V197I COADREAD 17 76354878 76354878 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:76354878delC c.299delG c.(298-300)ggcfs p.G100fs COADREAD 17 76354896 76354896 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:76354896C>T c.281G>A c.(280-282)cGc>cAc p.R94H COADREAD 17 76355017 76355017 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:76355017C>T c.160G>A c.(160-162)Ggc>Agc p.G54S DLBC 17 76354835 76354835 + Silent SNP C C A TCGA-FA-A4XK-01A-11D-A31X-10 TCGA-FA-A4XK-10A-01D-A31X-10 g.chr17:76354835C>A c.342G>T c.(340-342)gtG>gtT p.V114V DLBC 17 76354959 76354959 + Missense_Mutation SNP C C T TCGA-FA-8693-01A-11D-2397-10 TCGA-FA-8693-10A-01D-2397-10 g.chr17:76354959C>T c.218G>A c.(217-219)aGc>aAc p.S73N ESCA 17 76354966 76354966 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:76354966G>A c.211C>T c.(211-213)Cgc>Tgc p.R71C HNSC 17 76354722 76354722 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr17:76354722G>A c.455C>T c.(454-456)tCt>tTt p.S152F HNSC 17 76354904 76354904 + Silent SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 g.chr17:76354904C>T c.273G>A c.(271-273)aaG>aaA p.K91K KIPAN 17 76354730 76354730 + Silent SNP C C T TCGA-CJ-4882-01A-02D-1429-08 TCGA-CJ-4882-11A-01D-1429-08 g.chr17:76354730C>T c.447G>A c.(445-447)gaG>gaA p.E149E KIPAN 17 76354878 76354878 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:76354878delC c.299delG c.(298-300)ggcfs p.G100fs KIPAN 17 76355088 76355088 + Missense_Mutation SNP T T C TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr17:76355088T>C c.89A>G c.(88-90)gAg>gGg p.E30G KIRC 17 76354730 76354730 + Silent SNP C C T TCGA-CJ-4882-01A-02D-1429-08 TCGA-CJ-4882-11A-01D-1429-08 g.chr17:76354730C>T c.447G>A c.(445-447)gaG>gaA p.E149E KIRC 17 76354878 76354878 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:76354878delC c.299delG c.(298-300)ggcfs p.G100fs KIRP 17 76355088 76355088 + Missense_Mutation SNP T T C TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr17:76355088T>C c.89A>G c.(88-90)gAg>gGg p.E30G LIHC 17 76354878 76354878 + Frame_Shift_Del DEL C C - TCGA-DD-AACY-01A-11D-A40R-10 TCGA-DD-AACY-10A-01D-A40U-10 g.chr17:76354878delC c.299delG c.(298-300)ggcfs p.G100fs LUSC 17 76354523 76354523 + Silent SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr17:76354523C>T c.654G>A c.(652-654)ctG>ctA p.L218L LUSC 17 76354708 76354708 + Missense_Mutation SNP G G A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr17:76354708G>A c.469C>T c.(469-471)Cct>Tct p.P157S PAAD 17 76354664 76354664 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:76354664G>A c.513C>T c.(511-513)ggC>ggT p.G171G SARC 17 76355018 76355018 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr17:76355018G>A c.159C>T c.(157-159)ggC>ggT p.G53G SKCM 17 76354553 76354553 + Silent SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr17:76354553G>A c.624C>T c.(622-624)acC>acT p.T208T SKCM 17 76354748 76354748 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr17:76354748G>A c.429C>T c.(427-429)ccC>ccT p.P143P SKCM 17 76354760 76354760 + Silent SNP T T A TCGA-EE-A2MH-06A-11D-A197-08 TCGA-EE-A2MH-10A-01D-A199-08 g.chr17:76354760T>A c.417A>T c.(415-417)ccA>ccT p.P139P SKCM 17 76354883 76354883 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr17:76354883C>T c.294G>A c.(292-294)gaG>gaA p.E98E SKCM 17 76354956 76354956 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr17:76354956G>A c.221C>T c.(220-222)tCg>tTg p.S74L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 17 76348965 76348965 single base substitution C A downstream_gene_variant BRCA-EU 17 76350886 76350886 single base substitution G A downstream_gene_variant BRCA-EU 17 76351455 76351455 single base substitution C T downstream_gene_variant BRCA-EU 17 76352494 76352494 single base substitution G A downstream_gene_variant BRCA-EU 17 76353723 76353723 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 76353723 76353723 single base substitution C G downstream_gene_variant BRCA-EU 17 76353845 76353845 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 76353845 76353845 single base substitution T C downstream_gene_variant BRCA-EU 17 76354022 76354022 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 76354022 76354022 single base substitution C T downstream_gene_variant BRCA-EU 17 76354311 76354311 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 76354311 76354311 single base substitution C T downstream_gene_variant BRCA-EU 17 76356874 76356874 single base substitution G C upstream_gene_variant BRCA-EU 17 76357660 76357660 single base substitution C T upstream_gene_variant BRCA-EU 17 76358181 76358181 single base substitution G A upstream_gene_variant BRCA-EU 17 76358298 76358298 single base substitution G A upstream_gene_variant BRCA-EU 17 76359142 76359142 single base substitution C T upstream_gene_variant BRCA-EU 17 76360355 76360355 single base substitution C G upstream_gene_variant BRCA-EU 17 76360969 76360969 single base substitution C A upstream_gene_variant BRCA-FR 17 76348965 76348965 single base substitution C A downstream_gene_variant BRCA-UK 17 76351455 76351455 single base substitution C T downstream_gene_variant CESC-US 17 76354722 76354722 single base substitution G A downstream_gene_variant CESC-US 17 76354722 76354722 single base substitution G A missense_variant S152F 455C>T CESC-US 17 76354826 76354826 single base substitution G A downstream_gene_variant CESC-US 17 76354826 76354826 single base substitution G A synonymous_variant F117F 351C>T CESC-US 17 76354877 76354877 insertion of <=200bp - C downstream_gene_variant CESC-US 17 76354877 76354877 insertion of <=200bp - C frameshift_variant G100G? CESC-US 17 76354963 76354963 single base substitution C A downstream_gene_variant CESC-US 17 76354963 76354963 single base substitution C A missense_variant D72Y 214G>T CESC-US 17 76354970 76354970 single base substitution C T downstream_gene_variant CESC-US 17 76354970 76354970 single base substitution C T synonymous_variant L69L 207G>A CESC-US 17 76355014 76355014 single base substitution C T downstream_gene_variant CESC-US 17 76355014 76355014 single base substitution C T missense_variant E55K 163G>A CESC-US 17 76355089 76355089 single base substitution C T downstream_gene_variant CESC-US 17 76355089 76355089 single base substitution C T missense_variant E30K 88G>A CESC-US 17 76355093 76355093 single base substitution C G downstream_gene_variant CESC-US 17 76355093 76355093 single base substitution C G missense_variant K28N 84G>C COAD-US 17 76354588 76354588 single base substitution C T downstream_gene_variant COAD-US 17 76354588 76354588 single base substitution C T missense_variant V197I 589G>A COAD-US 17 76354785 76354785 deletion of <=200bp G - downstream_gene_variant COAD-US 17 76354785 76354785 deletion of <=200bp G - frameshift_variant P131 COAD-US 17 76354878 76354878 deletion of <=200bp C - downstream_gene_variant COAD-US 17 76354878 76354878 deletion of <=200bp C - frameshift_variant G100 COAD-US 17 76354896 76354896 single base substitution C T downstream_gene_variant COAD-US 17 76354896 76354896 single base substitution C T missense_variant R94H 281G>A COAD-US 17 76355017 76355017 single base substitution C T downstream_gene_variant COAD-US 17 76355017 76355017 single base substitution C T missense_variant G54S 160G>A COCA-CN 17 76354380 76354380 insertion of <=200bp - G 3_prime_UTR_variant COCA-CN 17 76354380 76354380 insertion of <=200bp - G downstream_gene_variant COCA-CN 17 76354380 76354380 single base substitution T G 3_prime_UTR_variant COCA-CN 17 76354380 76354380 single base substitution T G downstream_gene_variant COCA-CN 17 76354934 76354934 single base substitution C T downstream_gene_variant COCA-CN 17 76354934 76354934 single base substitution C T synonymous_variant T81T 243G>A COCA-CN 17 76354940 76354940 single base substitution G T downstream_gene_variant COCA-CN 17 76354940 76354940 single base substitution G T missense_variant F79L 237C>A COCA-CN 17 76355045 76355045 single base substitution G A downstream_gene_variant COCA-CN 17 76355045 76355045 single base substitution G A synonymous_variant S44S 132C>T EOPC-DE 17 76351915 76351915 single base substitution T G downstream_gene_variant ESAD-UK 17 76350201 76350201 single base substitution G A downstream_gene_variant ESAD-UK 17 76351629 76351629 single base substitution C T downstream_gene_variant ESAD-UK 17 76353907 76353907 single base substitution G C 3_prime_UTR_variant ESAD-UK 17 76353907 76353907 single base substitution G C downstream_gene_variant ESAD-UK 17 76357848 76357848 single base substitution C T upstream_gene_variant ESAD-UK 17 76358657 76358657 single base substitution A G upstream_gene_variant KIRC-US 17 76354730 76354730 single base substitution C T downstream_gene_variant KIRC-US 17 76354730 76354730 single base substitution C T synonymous_variant E149E 447G>A LINC-JP 17 76354963 76354963 single base substitution C A downstream_gene_variant LINC-JP 17 76354963 76354963 single base substitution C A missense_variant D72Y 214G>T LINC-JP 17 76357534 76357534 single base substitution G A upstream_gene_variant LINC-JP 17 76357535 76357535 single base substitution A T upstream_gene_variant LINC-JP 17 76360040 76360040 single base substitution C T upstream_gene_variant LIRI-JP 17 76348190 76348190 single base substitution G T downstream_gene_variant LIRI-JP 17 76348227 76348227 single base substitution G A downstream_gene_variant LIRI-JP 17 76348527 76348527 single base substitution C A downstream_gene_variant LIRI-JP 17 76348598 76348598 single base substitution T G downstream_gene_variant LIRI-JP 17 76349965 76349965 single base substitution G A downstream_gene_variant LIRI-JP 17 76350518 76350518 single base substitution G T downstream_gene_variant LIRI-JP 17 76355680 76355680 single base substitution A G intron_variant LIRI-JP 17 76358326 76358326 single base substitution G A upstream_gene_variant LIRI-JP 17 76359036 76359036 single base substitution G C upstream_gene_variant LIRI-JP 17 76359121 76359121 single base substitution C A upstream_gene_variant LIRI-JP 17 76360506 76360506 single base substitution T A upstream_gene_variant LIRI-JP 17 76360965 76360965 single base substitution G A upstream_gene_variant LUSC-KR 17 76350131 76350131 single base substitution G C downstream_gene_variant LUSC-KR 17 76353793 76353793 single base substitution A G 3_prime_UTR_variant LUSC-KR 17 76353793 76353793 single base substitution A G downstream_gene_variant LUSC-KR 17 76354043 76354043 single base substitution C A 3_prime_UTR_variant LUSC-KR 17 76354043 76354043 single base substitution C A downstream_gene_variant LUSC-KR 17 76356980 76356980 single base substitution C A upstream_gene_variant LUSC-KR 17 76357259 76357259 single base substitution C T upstream_gene_variant LUSC-US 17 76354523 76354523 single base substitution C T downstream_gene_variant LUSC-US 17 76354523 76354523 single base substitution C T synonymous_variant L218L 654G>A LUSC-US 17 76354708 76354708 single base substitution G A downstream_gene_variant LUSC-US 17 76354708 76354708 single base substitution G A missense_variant P157S 469C>T MALY-DE 17 76352056 76352056 single base substitution G T downstream_gene_variant MALY-DE 17 76355080 76355080 single base substitution G A downstream_gene_variant MALY-DE 17 76355080 76355080 single base substitution G A synonymous_variant L33L 97C>T MALY-DE 17 76355081 76355081 single base substitution C T downstream_gene_variant MALY-DE 17 76355081 76355081 single base substitution C T synonymous_variant Q32Q 96G>A MALY-DE 17 76355100 76355100 single base substitution C G downstream_gene_variant MALY-DE 17 76355100 76355100 single base substitution C G missense_variant S26T 77G>C MALY-DE 17 76355174 76355174 single base substitution C T start_lost M1I 3G>A MALY-DE 17 76355188 76355188 single base substitution C G 5_prime_UTR_variant MALY-DE 17 76355188 76355188 single base substitution C T 5_prime_UTR_variant MALY-DE 17 76355274 76355274 single base substitution G A intron_variant MALY-DE 17 76355358 76355358 single base substitution G A intron_variant MALY-DE 17 76355673 76355673 single base substitution C T intron_variant MALY-DE 17 76355691 76355691 single base substitution C T intron_variant MALY-DE 17 76355711 76355711 single base substitution C T intron_variant MALY-DE 17 76355837 76355837 single base substitution C T 5_prime_UTR_variant MALY-DE 17 76355837 76355837 single base substitution C T intron_variant MALY-DE 17 76356863 76356863 single base substitution C T upstream_gene_variant MALY-DE 17 76357136 76357136 single base substitution G A upstream_gene_variant MELA-AU 17 76349767 76349767 single base substitution G T downstream_gene_variant MELA-AU 17 76350267 76350267 single base substitution T A downstream_gene_variant MELA-AU 17 76350737 76350737 single base substitution C T downstream_gene_variant MELA-AU 17 76350812 76350812 single base substitution T A downstream_gene_variant MELA-AU 17 76351346 76351346 single base substitution G A downstream_gene_variant MELA-AU 17 76351556 76351556 single base substitution G A downstream_gene_variant MELA-AU 17 76351669 76351669 single base substitution G A downstream_gene_variant MELA-AU 17 76351753 76351753 single base substitution G A downstream_gene_variant MELA-AU 17 76352273 76352273 single base substitution C T downstream_gene_variant MELA-AU 17 76354388 76354388 single base substitution C T 3_prime_UTR_variant MELA-AU 17 76354388 76354388 single base substitution C T downstream_gene_variant MELA-AU 17 76354671 76354671 single base substitution G A downstream_gene_variant MELA-AU 17 76354671 76354671 single base substitution G A missense_variant S169F 506C>T MELA-AU 17 76354703 76354703 single base substitution C T downstream_gene_variant MELA-AU 17 76354703 76354703 single base substitution C T synonymous_variant G158G 474G>A MELA-AU 17 76354760 76354760 single base substitution T A downstream_gene_variant MELA-AU 17 76354760 76354760 single base substitution T A synonymous_variant P139P 417A>T MELA-AU 17 76354862 76354862 single base substitution C T downstream_gene_variant MELA-AU 17 76354862 76354862 single base substitution C T synonymous_variant Q105Q 315G>A MELA-AU 17 76354883 76354883 single base substitution C T downstream_gene_variant MELA-AU 17 76354883 76354883 single base substitution C T synonymous_variant E98E 294G>A MELA-AU 17 76354956 76354956 single base substitution G A downstream_gene_variant MELA-AU 17 76354956 76354956 single base substitution G A missense_variant S74L 221C>T MELA-AU 17 76354982 76354983 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 76354982 76354983 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant A65V 194CC>TT MELA-AU 17 76356153 76356153 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 76356483 76356483 single base substitution C T upstream_gene_variant MELA-AU 17 76357354 76357354 single base substitution G T upstream_gene_variant MELA-AU 17 76357493 76357493 single base substitution C T upstream_gene_variant MELA-AU 17 76357794 76357794 single base substitution C T upstream_gene_variant MELA-AU 17 76357838 76357838 single base substitution C T upstream_gene_variant MELA-AU 17 76358015 76358015 single base substitution G A upstream_gene_variant MELA-AU 17 76358077 76358077 single base substitution G A upstream_gene_variant MELA-AU 17 76359393 76359393 single base substitution C A upstream_gene_variant MELA-AU 17 76359393 76359394 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 76359495 76359495 single base substitution A G upstream_gene_variant MELA-AU 17 76359542 76359542 single base substitution C T upstream_gene_variant MELA-AU 17 76359673 76359673 single base substitution C T upstream_gene_variant MELA-AU 17 76359787 76359787 single base substitution C T upstream_gene_variant MELA-AU 17 76359996 76359996 single base substitution C T upstream_gene_variant MELA-AU 17 76360502 76360502 single base substitution G A upstream_gene_variant MELA-AU 17 76360877 76360877 single base substitution C T upstream_gene_variant ORCA-IN 17 76349527 76349527 single base substitution C T downstream_gene_variant ORCA-IN 17 76350436 76350436 deletion of <=200bp G - downstream_gene_variant OV-AU 17 76351462 76351462 single base substitution G T downstream_gene_variant OV-AU 17 76356022 76356022 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 17 76360234 76360234 single base substitution G A upstream_gene_variant PACA-AU 17 76357923 76357923 insertion of <=200bp - A upstream_gene_variant PACA-CA 17 76350800 76350800 insertion of <=200bp - T downstream_gene_variant PACA-CA 17 76356410 76356410 deletion of <=200bp C - upstream_gene_variant PACA-CA 17 76358272 76358272 single base substitution T C upstream_gene_variant PACA-CA 17 76359239 76359239 single base substitution C A upstream_gene_variant PACA-CA 17 76359837 76359837 single base substitution C T upstream_gene_variant PAEN-AU 17 76351543 76351543 single base substitution G A downstream_gene_variant PAEN-AU 17 76357324 76357324 single base substitution A G upstream_gene_variant PBCA-DE 17 76356342 76356342 single base substitution G C upstream_gene_variant PBCA-DE 17 76356900 76356900 single base substitution C A upstream_gene_variant PRAD-UK 17 76353188 76353188 single base substitution C A 3_prime_UTR_variant PRAD-UK 17 76353188 76353188 single base substitution C A downstream_gene_variant PRAD-UK 17 76358177 76358177 single base substitution T A upstream_gene_variant PRAD-UK 17 76359644 76359644 single base substitution G A upstream_gene_variant RECA-EU 17 76353456 76353456 single base substitution C A 3_prime_UTR_variant RECA-EU 17 76353456 76353456 single base substitution C A downstream_gene_variant RECA-EU 17 76354994 76354994 single base substitution A C downstream_gene_variant RECA-EU 17 76354994 76354994 single base substitution A C missense_variant S61R 183T>G SKCA-BR 17 76349047 76349047 insertion of <=200bp - GGGGCGTGGCAA downstream_gene_variant SKCA-BR 17 76349453 76349453 single base substitution C T downstream_gene_variant SKCA-BR 17 76350692 76350692 single base substitution A G downstream_gene_variant SKCA-BR 17 76351534 76351534 single base substitution G A downstream_gene_variant SKCA-BR 17 76353953 76353953 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 76353953 76353953 single base substitution G A downstream_gene_variant SKCA-BR 17 76353954 76353954 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 76353954 76353954 single base substitution G A downstream_gene_variant SKCA-BR 17 76356414 76356414 single base substitution G C upstream_gene_variant SKCA-BR 17 76357330 76357330 single base substitution T G upstream_gene_variant SKCA-BR 17 76358412 76358414 deletion of <=200bp AAG - upstream_gene_variant SKCM-US 17 76354553 76354553 single base substitution G A downstream_gene_variant SKCM-US 17 76354553 76354553 single base substitution G A synonymous_variant T208T 624C>T SKCM-US 17 76354748 76354748 single base substitution G A downstream_gene_variant SKCM-US 17 76354748 76354748 single base substitution G A synonymous_variant P143P 429C>T SKCM-US 17 76354760 76354760 single base substitution T A downstream_gene_variant SKCM-US 17 76354760 76354760 single base substitution T A synonymous_variant P139P 417A>T SKCM-US 17 76354883 76354883 single base substitution C T downstream_gene_variant SKCM-US 17 76354883 76354883 single base substitution C T synonymous_variant E98E 294G>A SKCM-US 17 76354956 76354956 single base substitution G A downstream_gene_variant SKCM-US 17 76354956 76354956 single base substitution G A missense_variant S74L 221C>T STAD-US 17 76354545 76354545 single base substitution G A downstream_gene_variant STAD-US 17 76354545 76354545 single base substitution G A missense_variant P211L 632C>T STAD-US 17 76354897 76354897 single base substitution G A downstream_gene_variant STAD-US 17 76354897 76354897 single base substitution G A missense_variant R94C 280C>T THCA-SA 17 76354195 76354195 single base substitution A G 3_prime_UTR_variant THCA-SA 17 76354195 76354195 single base substitution A G downstream_gene_variant THCA-SA 17 76354622 76354624 deletion of <=200bp GTT - downstream_gene_variant THCA-SA 17 76354622 76354624 deletion of <=200bp GTT - inframe_deletion N185 UCEC-US 17 76354763 76354763 single base substitution C T downstream_gene_variant UCEC-US 17 76354763 76354763 single base substitution C T synonymous_variant S138S 414G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A0LM-01 COSM985072 c.414G>A p.S138S Substitution - coding silent 17:78358682-78358682 - TCGA-A6-6781-01 COSM1386414 c.281G>A p.R94H Substitution - Missense 17:78358815-78358815 - sysucc-1397T COSM5473957 c.243G>A p.T81T Substitution - coding silent 17:78358853-78358853 - HCC4T COSM1610894 c.214G>T p.D72Y Substitution - Missense 17:78358882-78358882 - TCGA-C5-A7UC-01 COSM4828101 c.88G>A p.E30K Substitution - Missense 17:78359008-78359008 - TCGA-EE-A29E-06 COSM3522808 c.221C>T p.S74L Substitution - Missense 17:78358875-78358875 - Pat_41_B COSM5853626 c.548C>T p.S183F Substitution - Missense 17:78358548-78358548 - TCGA-IR-A3LK-01 COSM4817326 c.351C>T p.F117F Substitution - coding silent 17:78358745-78358745 - TCGA-A6-6653-01 COSM1386415 c.160G>A p.G54S Substitution - Missense 17:78358936-78358936 - C0035T COSM4151777 c.183T>G p.S61R Substitution - Missense 17:78358913-78358913 - HCT15 COSM2745793 c.507C>T p.S169S Substitution - coding silent 17:78358589-78358589 - TCGA-D7-8570-01 COSM4070125 c.632C>T p.P211L Substitution - Missense 17:78358464-78358464 - 522_T COSM3958863 c.246C>T p.L82L Substitution - coding silent 17:78358850-78358850 - T3202 COSM4728893 c.92A>G p.Y31C Substitution - Missense 17:78359004-78359004 - ESCC_96 COSM4728890 c.346C>T p.R116C Substitution - Missense 17:78358750-78358750 - 587332 COSM1227091 c.280C>T p.R94C Substitution - Missense 17:78358816-78358816 - LAU108 COSM233464 c.131G>A p.S44N Substitution - Missense 17:78358965-78358965 - TCGA-EE-A20C-06 COSM3522807 c.294G>A p.E98E Substitution - coding silent 17:78358802-78358802 - tumor_4131095 COSM5948745 c.3G>A p.M1I Substitution - Missense 17:78359093-78359093 - Pat_49_B COSM5853627 c.478C>T p.P160S Substitution - Missense 17:78358618-78358618 - OCC04PT COSM88674 c.281G>T p.R94L Substitution - Missense 17:78358815-78358815 - TCGA-BR-4184-01 COSM1227091 c.280C>T p.R94C Substitution - Missense 17:78358816-78358816 - T3152 COSM4728891 c.218G>A p.S73N Substitution - Missense 17:78358878-78358878 - T3080 COSM4728890 c.346C>T p.R116C Substitution - Missense 17:78358750-78358750 - SNU-175 COSM2745801 c.318C>T p.S106S Substitution - coding silent 17:78358778-78358778 - TCGA-AA-3663-01 COSM1386413 c.299delG p.G100fs*79 Deletion - Frameshift 17:78358797-78358797 - T2944 COSM4728889 c.624C>A p.T208T Substitution - coding silent 17:78358472-78358472 - TCGA-Q1-A73O-01 COSM1610894 c.214G>T p.D72Y Substitution - Missense 17:78358882-78358882 - HCC4 COSM1610894 c.214G>T p.D72Y Substitution - Missense 17:78358882-78358882 - 587278 COSM1227090 c.347G>A p.R116H Substitution - Missense 17:78358749-78358749 - LS411 COSM1386413 c.299delG p.G100fs*79 Deletion - Frameshift 17:78358797-78358797 - TCGA-EK-A2RD-01 COSM4820209 c.455C>T p.S152F Substitution - Missense 17:78358641-78358641 - TCGA-D3-A5GU-06 COSM3522804 c.624C>T p.T208T Substitution - coding silent 17:78358472-78358472 - 61 COSM5741161 c.61C>T p.R21C Substitution - Missense 17:78359035-78359035 - PTC_299 COSM5959609 c.553_555delAAC p.N185delN Deletion - In frame 17:78358541-78358543 - TCGA-66-2759-01 COSM707835 c.469C>T p.P157S Substitution - Missense 17:78358627-78358627 - TCGA-C5-A7UC-01 COSM4828062 c.84G>C p.K28N Substitution - Missense 17:78359012-78359012 - TCGA-EE-A2MH-06 COSM3522806 c.417A>T p.P139P Substitution - coding silent 17:78358679-78358679 - GC_353T-GC_353N COSM4773538 c.634G>A p.G212R Substitution - Missense 17:78358462-78358462 - LIM2551 COSM1386413 c.299delG p.G100fs*79 Deletion - Frameshift 17:78358797-78358797 - HX13T COSM1610894 c.214G>T p.D72Y Substitution - Missense 17:78358882-78358882 - LUAD-CHTN-MAD06-00668 COSM359140 c.328A>G p.S110G Substitution - Missense 17:78358768-78358768 - SC_9019 COSM5559013 c.66C>G p.L22L Substitution - coding silent 17:78359030-78359030 - T3094 COSM4728892 c.211C>T p.R71C Substitution - Missense 17:78358885-78358885 - S00833 COSM5661097 c.83A>G p.K28R Substitution - Missense 17:78359013-78359013 - CRC-03T COSM5451466 c.132C>T p.S44S Substitution - coding silent 17:78358964-78358964 - TCGA-60-2698-01 COSM707836 c.654G>A p.L218L Substitution - coding silent 17:78358442-78358442 - TCGA-CJ-4882-01 COSM473446 c.447G>A p.E149E Substitution - coding silent 17:78358649-78358649 - MO_1012 COSM1386413 c.299delG p.G100fs*79 Deletion - Frameshift 17:78358797-78358797 - TCGA-FW-A3TU-06 COSM3522805 c.429C>T p.P143P Substitution - coding silent 17:78358667-78358667 - Capan-1 COSM328423 c.582G>A p.R194R Substitution - coding silent 17:78358514-78358514 - pfg143T COSM4757710 c.133G>T p.G45C Substitution - Missense 17:78358963-78358963 - TCGA-AZ-6601-01 COSM1386412 c.589G>A p.V197I Substitution - Missense 17:78358507-78358507 - 29 COSM4172214 c.212G>A p.R71H Substitution - Missense 17:78358884-78358884 - TCGA-Q1-A73O-01 COSM4834260 c.163G>A p.E55K Substitution - Missense 17:78358933-78358933 - YUFIT COSM5387454 c.469_470CC>TT p.P157F Substitution - Missense 17:78358626-78358627 - TCGA-Q1-A73O-01 COSM4834806 c.207G>A p.L69L Substitution - coding silent 17:78358889-78358889 - TCGA-AM-5820-01 COSM5134519 c.392delC p.P131fs*48 Deletion - Frameshift 17:78358704-78358704 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.527973 17q25.3 604176

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F80S c.239T>C 17 76354938 CM C A Missense p.R215L c.644G>T 17 76354533 STAD C T Synonymous p.E149E c.447G>A 17 76354730 RCCC C T Synonymous p.E98E c.294G>A 17 76354883 CM C T Synonymous p.K91K c.273G>A 17 76354904 HNSC G A Missense p.P137S c.409C>T 17 76354768 CM G A Missense p.P157S c.469C>T 17 76354708 LUSC G A Missense p.R215W c.643C>T 17 76354534 STAD T A Synonymous p.P139P c.417A>T 17 76354760 CM