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 ACC 1 20828581 20828581 + Missense_Mutation SNP T T C TCGA-OR-A5LK-01A-11D-A29I-10 TCGA-OR-A5LK-10A-01D-A29L-10 g.chr1:20828581T>C c.310A>G c.(310-312)Aat>Gat p.N104D BLCA 1 20827204 20827204 + Silent SNP C C T TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr1:20827204C>T c.1038G>A c.(1036-1038)gtG>gtA p.V346V BLCA 1 20827462 20827462 + Silent SNP C C G TCGA-CF-A47V-01A-11D-A23U-08 TCGA-CF-A47V-10A-01D-A23U-08 g.chr1:20827462C>G c.780G>C c.(778-780)cgG>cgC p.R260R BRCA 1 20827667 20827667 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr1:20827667C>A c.575G>T c.(574-576)gGg>gTg p.G192V BRCA 1 20827672 20827672 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr1:20827672C>A c.570G>T c.(568-570)aaG>aaT p.K190N BRCA 1 20827674 20827674 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr1:20827674T>C c.568A>G c.(568-570)Aag>Gag p.K190E CESC 1 20827823 20827823 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:20827823C>T c.419G>A c.(418-420)cGa>cAa p.R140Q COAD 1 20827257 20827257 + Missense_Mutation SNP C C T TCGA-AA-3667-01A-01W-0900-09 TCGA-AA-3667-10A-01W-0900-09 g.chr1:20827257C>T c.985G>A c.(985-987)Gcc>Acc p.A329T COAD 1 20827342 20827342 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:20827342G>A c.900C>T c.(898-900)agC>agT p.S300S COAD 1 20827424 20827424 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr1:20827424T>C c.818A>G c.(817-819)aAg>aGg p.K273R COAD 1 20827484 20827484 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:20827484G>A c.758C>T c.(757-759)gCc>gTc p.A253V COAD 1 20827710 20827710 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr1:20827710G>A c.532C>T c.(532-534)Cgg>Tgg p.R178W COAD 1 20827710 20827710 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:20827710G>A c.532C>T c.(532-534)Cgg>Tgg p.R178W COAD 1 20828577 20828577 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:20828577C>T c.314G>A c.(313-315)cGa>cAa p.R105Q COAD 1 20829737 20829737 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:20829737G>A c.186C>T c.(184-186)tgC>tgT p.C62C COADREAD 1 20827257 20827257 + Missense_Mutation SNP C C T TCGA-AA-3667-01A-01W-0900-09 TCGA-AA-3667-10A-01W-0900-09 g.chr1:20827257C>T c.985G>A c.(985-987)Gcc>Acc p.A329T COADREAD 1 20827342 20827342 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:20827342G>A c.900C>T c.(898-900)agC>agT p.S300S COADREAD 1 20827424 20827424 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr1:20827424T>C c.818A>G c.(817-819)aAg>aGg p.K273R COADREAD 1 20827484 20827484 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:20827484G>A c.758C>T c.(757-759)gCc>gTc p.A253V COADREAD 1 20827710 20827710 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr1:20827710G>A c.532C>T c.(532-534)Cgg>Tgg p.R178W COADREAD 1 20827710 20827710 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:20827710G>A c.532C>T c.(532-534)Cgg>Tgg p.R178W COADREAD 1 20827771 20827771 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:20827771C>A c.471G>T c.(469-471)gaG>gaT p.E157D COADREAD 1 20828577 20828577 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:20828577C>T c.314G>A c.(313-315)cGa>cAa p.R105Q COADREAD 1 20829737 20829737 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:20829737G>A c.186C>T c.(184-186)tgC>tgT p.C62C ESCA 1 20827583 20827583 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 g.chr1:20827583T>C c.659A>G c.(658-660)tAt>tGt p.Y220C ESCA 1 20827622 20827622 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr1:20827622G>C c.620C>G c.(619-621)tCt>tGt p.S207C GBM 1 20828674 20828674 + Missense_Mutation SNP G G A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 g.chr1:20828674G>A c.217C>T c.(217-219)Cgg>Tgg p.R73W GBMLGG 1 20828674 20828674 + Missense_Mutation SNP G G A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 g.chr1:20828674G>A c.217C>T c.(217-219)Cgg>Tgg p.R73W KIPAN 1 20827614 20827614 + Frame_Shift_Del DEL G G - TCGA-BQ-7060-01A-11D-1961-08 TCGA-BQ-7060-11A-01D-1961-08 g.chr1:20827614delG c.628delC c.(628-630)ctgfs p.L210fs KIRP 1 20827614 20827614 + Frame_Shift_Del DEL G G - TCGA-BQ-7060-01A-11D-1961-08 TCGA-BQ-7060-11A-01D-1961-08 g.chr1:20827614delG c.628delC c.(628-630)ctgfs p.L210fs LUAD 1 20827289 20827289 + Missense_Mutation SNP C C T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr1:20827289C>T c.953G>A c.(952-954)gGg>gAg p.G318E LUAD 1 20827839 20827839 + Missense_Mutation SNP C C T TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 g.chr1:20827839C>T c.403G>A c.(403-405)Gtg>Atg p.V135M LUAD 1 20827840 20827840 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr1:20827840G>A c.402C>T c.(400-402)ggC>ggT p.G134G LUAD 1 20827905 20827905 + Missense_Mutation SNP A A T TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 g.chr1:20827905A>T c.337T>A c.(337-339)Tgc>Agc p.C113S LUAD 1 20828626 20828626 + Missense_Mutation SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:20828626C>T c.265G>A c.(265-267)Ggg>Agg p.G89R LUSC 1 20827489 20827489 + Silent SNP T T A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr1:20827489T>A c.753A>T c.(751-753)acA>acT p.T251T LUSC 1 20827763 20827763 + Missense_Mutation SNP T T G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr1:20827763T>G c.479A>C c.(478-480)cAc>cCc p.H160P PAAD 1 20827710 20827710 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 g.chr1:20827710G>A c.532C>T c.(532-534)Cgg>Tgg p.R178W PRAD 1 20827309 20827309 + Silent SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:20827309G>T c.933C>A c.(931-933)tcC>tcA p.S311S PRAD 1 20828657 20828657 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:20828657C>T c.234G>A c.(232-234)acG>acA p.T78T READ 1 20827771 20827771 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:20827771C>A c.471G>T c.(469-471)gaG>gaT p.E157D SKCM 1 20827452 20827452 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:20827452G>A c.790C>T c.(790-792)Ctg>Ttg p.L264L SKCM 1 20827741 20827741 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:20827741G>A c.501C>T c.(499-501)acC>acT p.T167T SKCM 1 20829787 20829787 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr1:20829787G>A c.136C>T c.(136-138)Cat>Tat p.H46Y

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 1 20821817 20821817 single base substitution A G downstream_gene_variant BRCA-EU 1 20823187 20823187 single base substitution C G downstream_gene_variant BRCA-EU 1 20823509 20823509 single base substitution C T downstream_gene_variant BRCA-EU 1 20823998 20823998 single base substitution G C downstream_gene_variant BRCA-EU 1 20824879 20824879 single base substitution A C downstream_gene_variant BRCA-EU 1 20826408 20826408 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 20826591 20826591 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 20829329 20829329 deletion of <=200bp A - intron_variant BRCA-EU 1 20829338 20829338 single base substitution T A intron_variant BRCA-EU 1 20830308 20830308 deletion of <=200bp G - intron_variant BRCA-EU 1 20830701 20830701 single base substitution G T intron_variant BRCA-EU 1 20831274 20831274 single base substitution T C intron_variant BRCA-EU 1 20831593 20831593 single base substitution A T intron_variant BRCA-EU 1 20832841 20832841 single base substitution A C intron_variant BRCA-EU 1 20833334 20833334 single base substitution C T intron_variant BRCA-EU 1 20834608 20834608 single base substitution C A 5_prime_UTR_variant BRCA-EU 1 20835475 20835475 single base substitution C G upstream_gene_variant BRCA-EU 1 20836982 20836982 single base substitution G T upstream_gene_variant BRCA-EU 1 20838173 20838173 single base substitution T G upstream_gene_variant BRCA-EU 1 20838262 20838262 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 20839161 20839161 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 20839563 20839563 single base substitution C T upstream_gene_variant BRCA-FR 1 20836982 20836982 single base substitution G T upstream_gene_variant BRCA-US 1 20827667 20827667 single base substitution C A missense_variant G192V 575G>T BRCA-US 1 20827672 20827672 single base substitution C A missense_variant K190N 570G>T BRCA-US 1 20827674 20827674 single base substitution T C missense_variant K190E 568A>G BTCA-JP 1 20827617 20827617 single base substitution G T missense_variant R209S 625C>A BTCA-JP 1 20828649 20828649 single base substitution C A missense_variant S81I 242G>T BTCA-JP 1 20834365 20834365 single base substitution C A intron_variant CESC-US 1 20827823 20827823 single base substitution C T missense_variant R140Q 419G>A CLLE-ES 1 20835813 20835813 single base substitution C T upstream_gene_variant COAD-US 1 20827216 20827216 single base substitution C T synonymous_variant A342A 1026G>A COAD-US 1 20827342 20827342 single base substitution G A synonymous_variant S300S 900C>T COAD-US 1 20827484 20827484 single base substitution G A missense_variant A253V 758C>T COAD-US 1 20827710 20827710 single base substitution G A missense_variant R178W 532C>T COAD-US 1 20828577 20828577 single base substitution C T missense_variant R105Q 314G>A COAD-US 1 20829737 20829737 single base substitution G A synonymous_variant C62C 186C>T COCA-CN 1 20827306 20827306 single base substitution G A synonymous_variant C312C 936C>T COCA-CN 1 20827840 20827840 single base substitution G A synonymous_variant G134G 402C>T EOPC-DE 1 20837869 20837869 single base substitution A G upstream_gene_variant ESAD-UK 1 20823668 20823668 single base substitution A G downstream_gene_variant ESAD-UK 1 20824203 20824203 single base substitution A G downstream_gene_variant ESAD-UK 1 20826256 20826256 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 20831745 20831745 single base substitution C A intron_variant ESAD-UK 1 20832176 20832176 single base substitution A G intron_variant ESAD-UK 1 20835691 20835691 single base substitution G A upstream_gene_variant ESAD-UK 1 20835709 20835709 single base substitution T A upstream_gene_variant ESAD-UK 1 20837020 20837020 single base substitution T A upstream_gene_variant ESAD-UK 1 20837972 20837972 single base substitution A C upstream_gene_variant ESAD-UK 1 20839064 20839064 single base substitution C A upstream_gene_variant ESCA-CN 1 20828613 20828613 single base substitution C T missense_variant R93Q 278G>A GBM-US 1 20828674 20828674 single base substitution G A missense_variant R73W 217C>T KIRP-US 1 20827614 20827614 deletion of <=200bp G - frameshift_variant L210 LAML-KR 1 20833612 20833612 single base substitution A G intron_variant LICA-FR 1 20835316 20835316 single base substitution C A upstream_gene_variant LINC-JP 1 20827048 20827048 single base substitution C T 3_prime_UTR_variant LINC-JP 1 20827099 20827099 single base substitution C G 3_prime_UTR_variant LINC-JP 1 20827914 20827914 single base substitution T A splice_acceptor_variant LINC-JP 1 20827927 20827927 single base substitution G T intron_variant LINC-JP 1 20834611 20834611 single base substitution C T 5_prime_UTR_variant LIRI-JP 1 20822869 20822869 single base substitution C G downstream_gene_variant LIRI-JP 1 20823874 20823874 single base substitution C A downstream_gene_variant LIRI-JP 1 20827258 20827258 single base substitution G A synonymous_variant R328R 984C>T LIRI-JP 1 20828851 20828851 single base substitution G T intron_variant LIRI-JP 1 20828877 20828877 single base substitution A T intron_variant LIRI-JP 1 20829763 20829763 single base substitution T C missense_variant I54V 160A>G LIRI-JP 1 20830770 20830770 single base substitution C A intron_variant LIRI-JP 1 20832944 20832944 single base substitution A G intron_variant LIRI-JP 1 20837584 20837584 single base substitution G A upstream_gene_variant LUSC-KR 1 20821035 20821035 single base substitution G C downstream_gene_variant LUSC-KR 1 20821904 20821904 single base substitution G T downstream_gene_variant LUSC-KR 1 20829191 20829191 single base substitution T G intron_variant LUSC-KR 1 20829662 20829662 single base substitution T A intron_variant LUSC-KR 1 20834635 20834635 single base substitution G T 5_prime_UTR_variant LUSC-KR 1 20834687 20834687 single base substitution G T upstream_gene_variant LUSC-US 1 20827489 20827489 single base substitution T A synonymous_variant T251T 753A>T LUSC-US 1 20827763 20827763 single base substitution T G missense_variant H160P 479A>C MALY-DE 1 20839648 20839649 deletion of <=200bp AG - upstream_gene_variant MELA-AU 1 20821198 20821198 single base substitution G A downstream_gene_variant MELA-AU 1 20821782 20821782 single base substitution G A downstream_gene_variant MELA-AU 1 20821783 20821784 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 20822217 20822217 single base substitution G A downstream_gene_variant MELA-AU 1 20822597 20822597 single base substitution G A downstream_gene_variant MELA-AU 1 20824437 20824437 single base substitution G A downstream_gene_variant MELA-AU 1 20824874 20824874 single base substitution G A downstream_gene_variant MELA-AU 1 20825557 20825557 single base substitution G A downstream_gene_variant MELA-AU 1 20826131 20826131 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20826411 20826411 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20826421 20826421 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20826473 20826473 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20826699 20826699 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20826943 20826943 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20827095 20827095 single base substitution A C 3_prime_UTR_variant MELA-AU 1 20827139 20827139 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20827147 20827147 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20828679 20828679 single base substitution G A missense_variant A71V 212C>T MELA-AU 1 20828718 20828718 single base substitution T C intron_variant MELA-AU 1 20828818 20828818 single base substitution G A intron_variant MELA-AU 1 20828937 20828937 single base substitution G A intron_variant MELA-AU 1 20829615 20829615 single base substitution G A intron_variant MELA-AU 1 20830173 20830173 single base substitution G A intron_variant MELA-AU 1 20831006 20831006 single base substitution G A intron_variant MELA-AU 1 20831601 20831601 single base substitution G A intron_variant MELA-AU 1 20831851 20831851 single base substitution G A intron_variant MELA-AU 1 20831971 20831971 single base substitution G A intron_variant MELA-AU 1 20832290 20832290 single base substitution G C intron_variant MELA-AU 1 20833614 20833614 single base substitution C A intron_variant MELA-AU 1 20834647 20834648 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 1 20834662 20834662 single base substitution G A upstream_gene_variant MELA-AU 1 20834669 20834669 single base substitution G A upstream_gene_variant MELA-AU 1 20834674 20834674 single base substitution G A upstream_gene_variant MELA-AU 1 20834675 20834675 single base substitution G A upstream_gene_variant MELA-AU 1 20834709 20834709 single base substitution G A upstream_gene_variant MELA-AU 1 20834709 20834710 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 20834710 20834710 single base substitution G A upstream_gene_variant MELA-AU 1 20835116 20835116 single base substitution G A upstream_gene_variant MELA-AU 1 20835422 20835422 single base substitution C G upstream_gene_variant MELA-AU 1 20835460 20835460 single base substitution C T upstream_gene_variant MELA-AU 1 20836384 20836385 deletion of <=200bp TG - upstream_gene_variant MELA-AU 1 20836434 20836434 single base substitution C T upstream_gene_variant MELA-AU 1 20837296 20837296 single base substitution C T upstream_gene_variant MELA-AU 1 20837507 20837507 single base substitution C T upstream_gene_variant MELA-AU 1 20837563 20837563 single base substitution G A upstream_gene_variant MELA-AU 1 20837916 20837916 single base substitution C T upstream_gene_variant MELA-AU 1 20838050 20838050 single base substitution C T upstream_gene_variant MELA-AU 1 20838086 20838086 single base substitution C T upstream_gene_variant MELA-AU 1 20838751 20838751 single base substitution G A upstream_gene_variant MELA-AU 1 20838784 20838784 single base substitution G A upstream_gene_variant MELA-AU 1 20839387 20839387 single base substitution C T upstream_gene_variant MELA-AU 1 20839467 20839467 single base substitution C T upstream_gene_variant MELA-AU 1 20839555 20839555 single base substitution C T upstream_gene_variant ORCA-IN 1 20827446 20827446 single base substitution G A missense_variant R266W 796C>T OV-AU 1 20824895 20824895 single base substitution G C downstream_gene_variant OV-AU 1 20824896 20824896 single base substitution G C downstream_gene_variant OV-AU 1 20830281 20830281 single base substitution A G intron_variant OV-AU 1 20831300 20831300 single base substitution A G intron_variant OV-AU 1 20837747 20837747 single base substitution G T upstream_gene_variant PACA-AU 1 20823311 20823311 single base substitution G A downstream_gene_variant PACA-AU 1 20824998 20824998 single base substitution C T downstream_gene_variant PACA-AU 1 20825557 20825557 single base substitution G A downstream_gene_variant PACA-CA 1 20822237 20822237 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 20827318 20827318 single base substitution G T missense_variant S308R 924C>A PACA-CA 1 20829808 20829808 single base substitution T A splice_region_variant PACA-CA 1 20830303 20830305 deletion of <=200bp AAG - intron_variant PACA-CA 1 20830308 20830311 deletion of <=200bp GGGG - intron_variant PACA-CA 1 20833392 20833392 deletion of <=200bp A - intron_variant PACA-CA 1 20833703 20833703 single base substitution C T intron_variant PACA-CA 1 20837613 20837613 single base substitution G A upstream_gene_variant PACA-CA 1 20839110 20839110 single base substitution T C upstream_gene_variant PBCA-DE 1 20828104 20828104 single base substitution C A intron_variant PBCA-DE 1 20829809 20829809 deletion of <=200bp A - splice_region_variant PBCA-DE 1 20839648 20839649 deletion of <=200bp AG - upstream_gene_variant PRAD-CA 1 20822739 20822739 single base substitution G T downstream_gene_variant PRAD-CA 1 20823669 20823669 single base substitution C T downstream_gene_variant PRAD-CA 1 20829679 20829679 single base substitution A C intron_variant RECA-EU 1 20823109 20823109 single base substitution C G downstream_gene_variant SKCA-BR 1 20822734 20822734 single base substitution T G downstream_gene_variant SKCA-BR 1 20828083 20828083 single base substitution T G intron_variant SKCA-BR 1 20828104 20828104 single base substitution C A intron_variant SKCA-BR 1 20828354 20828354 single base substitution G A intron_variant SKCA-BR 1 20828355 20828355 single base substitution G A intron_variant SKCA-BR 1 20831889 20831890 deletion of <=200bp GC - intron_variant SKCA-BR 1 20831891 20831891 single base substitution A T intron_variant SKCA-BR 1 20832199 20832199 single base substitution G A intron_variant SKCA-BR 1 20834669 20834669 single base substitution G A upstream_gene_variant SKCA-BR 1 20834675 20834675 single base substitution G A upstream_gene_variant SKCA-BR 1 20835125 20835125 single base substitution C T upstream_gene_variant SKCA-BR 1 20835636 20835636 single base substitution A G upstream_gene_variant SKCA-BR 1 20836853 20836853 insertion of <=200bp - CTA upstream_gene_variant SKCA-BR 1 20837466 20837466 insertion of <=200bp - CAA upstream_gene_variant SKCA-BR 1 20837759 20837759 single base substitution A G upstream_gene_variant SKCM-US 1 20827452 20827452 single base substitution G A synonymous_variant L264L 790C>T SKCM-US 1 20827741 20827741 single base substitution G A synonymous_variant T167T 501C>T SKCM-US 1 20829787 20829787 single base substitution G A missense_variant H46Y 136C>T STAD-US 1 20827268 20827268 single base substitution T C missense_variant E325G 974A>G STAD-US 1 20827485 20827485 single base substitution C T missense_variant A253T 757G>A STAD-US 1 20827511 20827511 single base substitution G A missense_variant A244V 731C>T STAD-US 1 20827514 20827514 single base substitution A G missense_variant L243P 728T>C STAD-US 1 20827537 20827537 single base substitution C T synonymous_variant S235S 705G>A STAD-US 1 20827849 20827849 insertion of <=200bp - T frameshift_variant H131H? STAD-US 1 20827850 20827850 insertion of <=200bp - T frameshift_variant H131Q? STAD-US 1 20827854 20827854 single base substitution G C missense_variant P130A 388C>G STAD-US 1 20827877 20827877 insertion of <=200bp - T frameshift_variant N122K? UCEC-US 1 20827226 20827226 single base substitution C T missense_variant C339Y 1016G>A UCEC-US 1 20827284 20827284 single base substitution C T missense_variant V320I 958G>A UCEC-US 1 20827484 20827484 single base substitution G A missense_variant A253V 758C>T UCEC-US 1 20827664 20827664 single base substitution G A missense_variant A193V 578C>T UCEC-US 1 20827756 20827756 single base substitution C T synonymous_variant S162S 486G>A UCEC-US 1 20834457 20834457 single base substitution C T missense_variant V21I 61G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand sysucc-1370T COSM5469865 c.402C>T p.G134G Substitution - coding silent 1:20501347-20501347 - D28 COSM5545348 c.483C>T p.P161P Substitution - coding silent 1:20501266-20501266 - DLD1 COSM1928912 c.207A>G p.E69E Substitution - coding silent 1:20503223-20503223 - TCGA-A5-A0VP-01 COSM903257 c.758C>T p.A253V Substitution - Missense 1:20500991-20500991 - TCGA-BR-4361-01 COSM4027698 c.757G>A p.A253T Substitution - Missense 1:20500992-20500992 - BD57T COSM5509669 c.625C>A p.R209S Substitution - Missense 1:20501124-20501124 - Pat_76_A COSM5845321 c.797G>A p.R266Q Substitution - Missense 1:20500952-20500952 - 44T COSM3718370 c.796C>T p.R266W Substitution - Missense 1:20500953-20500953 - TLE109 COSM4167685 c.359G>A p.R120K Substitution - Missense 1:20501390-20501390 - YUGOE COSM1687126 c.986C>T p.A329V Substitution - Missense 1:20500763-20500763 - TCGA-BR-7851-01 COSM4027697 c.974A>G p.E325G Substitution - Missense 1:20500775-20500775 - TCGA-BR-4184-01 COSM1928901 c.731C>T p.A244V Substitution - Missense 1:20501018-20501018 - TCGA-21-5786-01 COSM678826 c.479A>C p.H160P Substitution - Missense 1:20501270-20501270 - TCGA-GF-A6C9-06 COSM4901420 c.501C>T p.T167T Substitution - coding silent 1:20501248-20501248 - BD154T COSM5494513 c.242G>T p.S81I Substitution - Missense 1:20502156-20502156 - TCGA-AX-A063-01 COSM903254 c.1016G>A p.C339Y Substitution - Missense 1:20500733-20500733 - TCGA-26-5136-01 COSM1215957 c.217C>T p.R73W Substitution - Missense 1:20502181-20502181 - TCGA-D1-A17U-01 COSM903258 c.578C>T p.A193V Substitution - Missense 1:20501171-20501171 - RK261_C02 COSM4943933 c.984C>T p.R328R Substitution - coding silent 1:20500765-20500765 - YUOMEGA COSM5379503 c.547C>T p.Q183* Substitution - Nonsense 1:20501202-20501202 - TCGA-A3-3346-01 COSM1491976 c.289C>T p.Q97* Substitution - Nonsense 1:20502109-20502109 - 1N50-VS-1T50 COSM4976502 c.837C>A p.F279L Substitution - Missense 1:20500912-20500912 - S01539 COSM4386752 c.336T>G p.D112E Substitution - Missense 1:20501413-20501413 - CSCC-5-T COSM4489010 c.341C>G p.S114* Substitution - Nonsense 1:20501408-20501408 - H1672 COSM312990 c.209-2A>T p.? Unknown 1:20502191-20502191 - TCGA-EK-A3GK-01 COSM4853669 c.419G>A p.R140Q Substitution - Missense 1:20501330-20501330 - YULAN COSM1687127 c.352C>T p.H118Y Substitution - Missense 1:20501397-20501397 - ESO-120 COSM1258319 c.445G>A p.D149N Substitution - Missense 1:20501304-20501304 - TCGA-CM-6162-01 COSM269648 c.532C>T p.R178W Substitution - Missense 1:20501217-20501217 - 062T COSM1730096 c.412G>A p.A138T Substitution - Missense 1:20501337-20501337 - PTC-7C COSM3750846 c.1026G>A p.A342A Substitution - coding silent 1:20500723-20500723 - TCGA-AD-6548-01 COSM5129028 c.355C>T p.Q119* Substitution - Nonsense 1:20501394-20501394 - OSCC-GB_00440111 COSM3718370 c.796C>T p.R266W Substitution - Missense 1:20500953-20500953 - TCGA-A8-A07R-01 COSM3803745 c.568A>G p.K190E Substitution - Missense 1:20501181-20501181 - TCGA-18-3416-01 COSM678827 c.753A>T p.T251T Substitution - coding silent 1:20500996-20500996 - 587342 COSM1215958 c.185G>C p.C62S Substitution - Missense 1:20503245-20503245 - TCGA-D1-A103-01 COSM903259 c.486G>A p.S162S Substitution - coding silent 1:20501263-20501263 - 255 COSM3731975 c.625C>T p.R209C Substitution - Missense 1:20501124-20501124 - 587332 COSM1215957 c.217C>T p.R73W Substitution - Missense 1:20502181-20502181 - TCGA-AA-3715-01 COSM269648 c.532C>T p.R178W Substitution - Missense 1:20501217-20501217 - TCGA-DA-A1IC-06 COSM3482823 c.136C>T p.H46Y Substitution - Missense 1:20503294-20503294 - TCGA-D1-A176-01 COSM903256 c.958G>A p.V320I Substitution - Missense 1:20500791-20500791 - TCGA-A6-2686-01 COSM5083792 c.331A>T p.N111Y Substitution - Missense 1:20501418-20501418 - TCGA-A8-A07R-01 COSM3803744 c.570G>T p.K190N Substitution - Missense 1:20501179-20501179 - TCGA-A8-A07R-01 COSM3803743 c.575G>T p.G192V Substitution - Missense 1:20501174-20501174 - TCGA-AZ-4315-01 COSM1338495 c.900C>T p.S300S Substitution - coding silent 1:20500849-20500849 - TCGA-CG-4474-01 COSM1928902 c.705G>A p.S235S Substitution - coding silent 1:20501044-20501044 - TCGA-AA-3715-01 COSM269647 c.818A>G p.K273R Substitution - Missense 1:20500931-20500931 - TCGA-AA-3667-01 COSM292700 c.985G>A p.A329T Substitution - Missense 1:20500764-20500764 - T3503 COSM4704131 c.79T>C p.S27P Substitution - Missense 1:20507946-20507946 - T3090 COSM4704130 c.132delA p.V45fs*7 Deletion - Frameshift 1:20503298-20503298 - 2334192 COSM312990 c.209-2A>T p.? Unknown 1:20502191-20502191 - RK166_C01 COSM1626791 c.160A>G p.I54V Substitution - Missense 1:20503270-20503270 - T3021 COSM4704129 c.626G>A p.R209H Substitution - Missense 1:20501123-20501123 - LUAD-YINHD COSM349949 c.633G>T p.Q211H Substitution - Missense 1:20501116-20501116 - CSCC-16-T COSM4561471 c.886G>A p.E296K Substitution - Missense 1:20500863-20500863 - TCGA-CG-4305-01 COSM4027699 c.728T>C p.L243P Substitution - Missense 1:20501021-20501021 - TP_2064 COSM5567965 c.864C>T p.S288S Substitution - coding silent 1:20500885-20500885 - TCGA-AD-6889-01 COSM903257 c.758C>T p.A253V Substitution - Missense 1:20500991-20500991 - 062T COSM1730095 c.413C>T p.A138V Substitution - Missense 1:20501336-20501336 - 587224 COSM1215955 c.1025C>T p.A342V Substitution - Missense 1:20500724-20500724 - C135 COSM4617276 c.1045C>A p.L349M Substitution - Missense 1:20500704-20500704 - TCGA-CG-4443-01 COSM4027700 c.388C>G p.P130A Substitution - Missense 1:20501361-20501361 - HCC108 COSM1601600 c.330-2A>T p.? Unknown 1:20501421-20501421 - TCGA-AM-5821-01 COSM3750846 c.1026G>A p.A342A Substitution - coding silent 1:20500723-20500723 - T3091 COSM4704128 c.957C>T p.H319H Substitution - coding silent 1:20500792-20500792 - TCGA-EE-A2MR-06 COSM3482822 c.790C>T p.L264L Substitution - coding silent 1:20500959-20500959 - TCGA-CA-6717-01 COSM1338496 c.314G>A p.R105Q Substitution - Missense 1:20502084-20502084 - HCT15 COSM1928912 c.207A>G p.E69E Substitution - coding silent 1:20503223-20503223 - ZZUFHECRKL-G020T COSM1928911 c.278G>A p.R93Q Substitution - Missense 1:20502120-20502120 - HCC108T COSM1601600 c.330-2A>T p.? Unknown 1:20501421-20501421 - 587222 COSM1215956 c.352C>A p.H118N Substitution - Missense 1:20501397-20501397 - TCGA-B5-A11E-01 COSM903262 c.61G>A p.V21I Substitution - Missense 1:20507964-20507964 - PD6646a COSM3719938 c.208G>A p.G70R Substitution - Missense 1:20503222-20503222 - TCGA-A6-5661-01 COSM1338497 c.186C>T p.C62C Substitution - coding silent 1:20503244-20503244 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.10101 1p36.12 612037 1513372|dbSNP|BC010101|A/T|non-coding||1620|Validated; 1513372|dbSNP|BC014010|A/T|non-coding||1613|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.1056+42T>G 1 20827144 NSCLC A G Missense p.L243P c.728T>C 1 20827514 STAD A T Missense p.C113S c.337T>A 1 20827905 LUAD A T Missense p.I343N c.1028T>A 1 20827214 CM C T Missense p.A329T c.985G>A 1 20827257 COREAD C T Missense p.C339Y c.1016G>A 1 20827226 UCEC C T Missense p.D149N c.445G>A 1 20827797 ESCA C T Missense p.R120K c.359G>A 1 20827883 ALL C T Missense p.V320I c.958G>A 1 20827284 UCEC C T Synonymous p.S235S c.705G>A 1 20827537 STAD G A Missense p.A193V c.578C>T 1 20827664 UCEC G A Missense p.A253V c.758C>T 1 20827484 UCEC G A Missense p.H46Y c.136C>T 1 20829787 CM G A Missense p.R73W c.217C>T 1 20828674 GBM G A Synonymous p.F226F c.678C>T 1 20827564 CM G C Missense p.P130A c.388C>G 1 20827854 STAD T A SpliceAcceptorSNV . c.209-2A>T 1 20828684 SCLC T A Synonymous p.T251T c.753A>T 1 20827489 LUSC T G Missense p.H160P c.479A>C 1 20827763 LUSC