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 26386772 26386772 + Silent SNP G G T TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr1:26386772G>T c.582C>A c.(580-582)tcC>tcA p.S194S BLCA 1 26380408 26380408 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr1:26380408C>G c.1027G>C c.(1027-1029)Gag>Cag p.E343Q BLCA 1 26380414 26380414 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr1:26380414C>T c.1021G>A c.(1021-1023)Gag>Aag p.E341K BLCA 1 26380432 26380432 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr1:26380432C>G c.1003G>C c.(1003-1005)Gaa>Caa p.E335Q BLCA 1 26384977 26384977 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr1:26384977G>A c.735C>T c.(733-735)ctC>ctT p.L245L BLCA 1 26385055 26385055 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr1:26385055G>A c.657C>T c.(655-657)atC>atT p.I219I BLCA 1 26385115 26385115 + Splice_Site SNP C C A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 g.chr1:26385115C>A c.e5-1 BLCA 1 26386835 26386836 + Frame_Shift_Del DEL AC AC - TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr1:26386835_26386836delAC c.518_519delGT c.(517-519)tgtfs p.C173fs BLCA 1 26387813 26387813 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr1:26387813C>T c.345G>A c.(343-345)caG>caA p.Q115Q BRCA 1 26386771 26386771 + Missense_Mutation SNP G G C TCGA-A8-A09M-01A-11W-A019-09 TCGA-A8-A09M-10A-01W-A021-09 g.chr1:26386771G>C c.583C>G c.(583-585)Cgt>Ggt p.R195G CESC 1 26387774 26387774 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 g.chr1:26387774C>G c.384G>C c.(382-384)gaG>gaC p.E128D COAD 1 26383722 26383722 + Missense_Mutation SNP G G C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:26383722G>C c.951C>G c.(949-951)gaC>gaG p.D317E COAD 1 26384948 26384948 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:26384948T>G c.764A>C c.(763-765)aAg>aCg p.K255T COAD 1 26384982 26384982 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:26384982C>T c.730G>A c.(730-732)Gcc>Acc p.A244T COAD 1 26387773 26387773 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:26387773T>G c.385A>C c.(385-387)Aaa>Caa p.K129Q COAD 1 26387815 26387815 + Missense_Mutation SNP G G T TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr1:26387815G>T c.343C>A c.(343-345)Cag>Aag p.Q115K COADREAD 1 26383722 26383722 + Missense_Mutation SNP G G C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:26383722G>C c.951C>G c.(949-951)gaC>gaG p.D317E COADREAD 1 26384948 26384948 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:26384948T>G c.764A>C c.(763-765)aAg>aCg p.K255T COADREAD 1 26384982 26384982 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:26384982C>T c.730G>A c.(730-732)Gcc>Acc p.A244T COADREAD 1 26387773 26387773 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:26387773T>G c.385A>C c.(385-387)Aaa>Caa p.K129Q COADREAD 1 26387815 26387815 + Missense_Mutation SNP G G T TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr1:26387815G>T c.343C>A c.(343-345)Cag>Aag p.Q115K COADREAD 1 26392850 26392850 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:26392850C>T c.241G>A c.(241-243)Gag>Aag p.E81K DLBC 1 26384973 26384973 + Nonsense_Mutation SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr1:26384973G>A c.739C>T c.(739-741)Cag>Tag p.Q247* ESCA 1 26386784 26386784 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr1:26386784C>T c.570G>A c.(568-570)caG>caA p.Q190Q ESCA 1 26387815 26387815 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr1:26387815G>T c.343C>A c.(343-345)Cag>Aag p.Q115K ESCA 1 26392821 26392821 + Silent SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr1:26392821G>A c.270C>T c.(268-270)taC>taT p.Y90Y GBMLGG 1 26383727 26383727 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:26383727C>A c.946G>T c.(946-948)Gca>Tca p.A316S GBMLGG 1 26387782 26387782 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:26387782C>T c.376G>A c.(376-378)Gaa>Aaa p.E126K GBMLGG 1 26387823 26387823 + Missense_Mutation SNP C C T TCGA-DU-7012-01A-11D-2024-08 TCGA-DU-7012-10A-01D-2024-08 g.chr1:26387823C>T c.335G>A c.(334-336)cGg>cAg p.R112Q HNSC 1 26387823 26387823 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr1:26387823C>T c.335G>A c.(334-336)cGg>cAg p.R112Q HNSC 1 26392775 26392775 + Missense_Mutation SNP T T G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr1:26392775T>G c.316A>C c.(316-318)Aaa>Caa p.K106Q KICH 1 26385003 26385003 + Missense_Mutation SNP T T C TCGA-KO-8417-01A-11D-2310-10 TCGA-KO-8417-11A-01D-2311-10 g.chr1:26385003T>C c.709A>G c.(709-711)Aaa>Gaa p.K237E KIPAN 1 26385003 26385003 + Missense_Mutation SNP T T C TCGA-KO-8417-01A-11D-2310-10 TCGA-KO-8417-11A-01D-2311-10 g.chr1:26385003T>C c.709A>G c.(709-711)Aaa>Gaa p.K237E KIPAN 1 26385106 26385106 + Missense_Mutation SNP A A C TCGA-B8-4621-01A-01D-1501-10 TCGA-B8-4621-10A-01D-1501-10 g.chr1:26385106A>C c.606T>G c.(604-606)agT>agG p.S202R KIPAN 1 26386776 26386776 + Missense_Mutation SNP T T A TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr1:26386776T>A c.578A>T c.(577-579)gAt>gTt p.D193V KIPAN 1 26392820 26392820 + Missense_Mutation SNP C C T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr1:26392820C>T c.271G>A c.(271-273)Ggc>Agc p.G91S KIRC 1 26385106 26385106 + Missense_Mutation SNP A A C TCGA-B8-4621-01A-01D-1501-10 TCGA-B8-4621-10A-01D-1501-10 g.chr1:26385106A>C c.606T>G c.(604-606)agT>agG p.S202R KIRP 1 26386776 26386776 + Missense_Mutation SNP T T A TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr1:26386776T>A c.578A>T c.(577-579)gAt>gTt p.D193V KIRP 1 26392820 26392820 + Missense_Mutation SNP C C T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr1:26392820C>T c.271G>A c.(271-273)Ggc>Agc p.G91S LGG 1 26383727 26383727 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:26383727C>A c.946G>T c.(946-948)Gca>Tca p.A316S LGG 1 26387782 26387782 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:26387782C>T c.376G>A c.(376-378)Gaa>Aaa p.E126K LGG 1 26387823 26387823 + Missense_Mutation SNP C C T TCGA-DU-7012-01A-11D-2024-08 TCGA-DU-7012-10A-01D-2024-08 g.chr1:26387823C>T c.335G>A c.(334-336)cGg>cAg p.R112Q LUAD 1 26385006 26385006 + Nonsense_Mutation SNP C C A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr1:26385006C>A c.706G>T c.(706-708)Gag>Tag p.E236* LUAD 1 26387753 26387753 + Silent SNP G G C TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr1:26387753G>C c.405C>G c.(403-405)ctC>ctG p.L135L LUAD 1 26392855 26392855 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 g.chr1:26392855C>T c.236G>A c.(235-237)cGc>cAc p.R79H LUAD 1 26392931 26392931 + Splice_Site SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr1:26392931C>A c.160G>T c.(160-162)Gct>Tct p.A54S LUSC 1 26386826 26386826 + Missense_Mutation SNP C C T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 g.chr1:26386826C>T c.528G>A c.(526-528)atG>atA p.M176I LUSC 1 26387757 26387757 + Missense_Mutation SNP C C G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr1:26387757C>G c.401G>C c.(400-402)tGt>tCt p.C134S PAAD 1 26380400 26380400 + Silent SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:26380400T>G c.1035A>C c.(1033-1035)acA>acC p.T345T READ 1 26392850 26392850 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:26392850C>T c.241G>A c.(241-243)Gag>Aag p.E81K SKCM 1 26383786 26383786 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:26383786C>T c.887G>A c.(886-888)gGg>gAg p.G296E SKCM 1 26385114 26385114 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr1:26385114C>T c.598G>A c.(598-600)Gag>Aag p.E200K SKCM 1 26393830 26393830 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:26393830G>A c.156C>T c.(154-156)ttC>ttT p.F52F SKCM 1 26393949 26393949 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:26393949G>A c.37C>T c.(37-39)Ccc>Tcc p.P13S

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 1 26384947 26384947 single base substitution C T downstream_gene_variant BLCA-CN 1 26384947 26384947 single base substitution C T synonymous_variant K255K 765G>A BLCA-CN 1 26392862 26392862 single base substitution T G exon_variant BLCA-CN 1 26392862 26392862 single base substitution T G missense_variant T77P 229A>C BLCA-CN 1 26393920 26393920 single base substitution G C exon_variant BLCA-CN 1 26393920 26393920 single base substitution G C missense_variant I22M 66C>G BLCA-US 1 26387813 26387813 single base substitution C T exon_variant BLCA-US 1 26387813 26387813 single base substitution C T synonymous_variant Q115Q 345G>A BRCA-EU 1 26375421 26375421 single base substitution T C downstream_gene_variant BRCA-EU 1 26376887 26376887 single base substitution G A downstream_gene_variant BRCA-EU 1 26379508 26379508 single base substitution C G intron_variant BRCA-EU 1 26380634 26380634 single base substitution G C intron_variant BRCA-EU 1 26380740 26380740 single base substitution G A intron_variant BRCA-EU 1 26380977 26380977 single base substitution C G intron_variant BRCA-EU 1 26381136 26381136 single base substitution G C intron_variant BRCA-EU 1 26381792 26381792 single base substitution C G intron_variant BRCA-EU 1 26382509 26382509 single base substitution C G intron_variant BRCA-EU 1 26382567 26382567 single base substitution T C intron_variant BRCA-EU 1 26383436 26383436 single base substitution T C downstream_gene_variant BRCA-EU 1 26383436 26383436 single base substitution T C intron_variant BRCA-EU 1 26383445 26383445 single base substitution G A downstream_gene_variant BRCA-EU 1 26383445 26383445 single base substitution G A intron_variant BRCA-EU 1 26384019 26384019 single base substitution A G downstream_gene_variant BRCA-EU 1 26384019 26384019 single base substitution A G intron_variant BRCA-EU 1 26384719 26384719 insertion of <=200bp - G downstream_gene_variant BRCA-EU 1 26384719 26384719 insertion of <=200bp - G intron_variant BRCA-EU 1 26386986 26386986 single base substitution T A downstream_gene_variant BRCA-EU 1 26386986 26386986 single base substitution T A intron_variant BRCA-EU 1 26388329 26388329 single base substitution C T intron_variant BRCA-EU 1 26390022 26390022 single base substitution G C intron_variant BRCA-EU 1 26390338 26390338 single base substitution G T intron_variant BRCA-EU 1 26391426 26391426 single base substitution C G intron_variant BRCA-EU 1 26391894 26391894 single base substitution G C intron_variant BRCA-EU 1 26392217 26392217 single base substitution C T intron_variant BRCA-EU 1 26393316 26393316 single base substitution G A intron_variant BRCA-EU 1 26394901 26394901 single base substitution C G exon_variant BRCA-EU 1 26394901 26394901 single base substitution C G upstream_gene_variant BRCA-EU 1 26395046 26395046 single base substitution C T upstream_gene_variant BRCA-EU 1 26395087 26395087 single base substitution G T upstream_gene_variant BRCA-EU 1 26396358 26396358 single base substitution G A upstream_gene_variant BRCA-EU 1 26396786 26396786 single base substitution C G upstream_gene_variant BRCA-EU 1 26396853 26396853 single base substitution C T upstream_gene_variant BRCA-EU 1 26397037 26397037 single base substitution C A upstream_gene_variant BRCA-EU 1 26397141 26397141 single base substitution G C upstream_gene_variant BRCA-EU 1 26398827 26398827 single base substitution C T upstream_gene_variant BRCA-EU 1 26399040 26399040 single base substitution C A upstream_gene_variant BRCA-FR 1 26374626 26374626 single base substitution C T downstream_gene_variant BRCA-FR 1 26375421 26375421 single base substitution T C downstream_gene_variant BRCA-FR 1 26380977 26380977 single base substitution C G intron_variant BRCA-FR 1 26382509 26382509 single base substitution C G intron_variant BRCA-FR 1 26390022 26390022 single base substitution G C intron_variant BRCA-FR 1 26396786 26396786 single base substitution C G upstream_gene_variant BRCA-FR 1 26399040 26399040 single base substitution C A upstream_gene_variant BRCA-KR 1 26378476 26378476 single base substitution A G intron_variant BRCA-UK 1 26390338 26390338 single base substitution G T intron_variant BRCA-UK 1 26396358 26396358 single base substitution G A upstream_gene_variant BRCA-US 1 26386771 26386771 single base substitution G C downstream_gene_variant BRCA-US 1 26386771 26386771 single base substitution G C missense_variant R195G 583C>G BTCA-JP 1 26383722 26383722 single base substitution G A downstream_gene_variant BTCA-JP 1 26383722 26383722 single base substitution G A synonymous_variant D317D 951C>T BTCA-JP 1 26384303 26384303 single base substitution T A downstream_gene_variant BTCA-JP 1 26384303 26384303 single base substitution T A intron_variant CESC-US 1 26387774 26387774 single base substitution C G exon_variant CESC-US 1 26387774 26387774 single base substitution C G missense_variant E128D 384G>C CESC-US 1 26394009 26394009 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 1 26394009 26394009 single base substitution C T exon_variant CESC-US 1 26394022 26394022 single base substitution C G 5_prime_UTR_variant CESC-US 1 26394022 26394022 single base substitution C G exon_variant CLLE-ES 1 26376570 26376570 single base substitution A G downstream_gene_variant CLLE-ES 1 26382724 26382726 deletion of <=200bp TTC - intron_variant COAD-US 1 26383722 26383722 single base substitution G C downstream_gene_variant COAD-US 1 26383722 26383722 single base substitution G C missense_variant D317E 951C>G COAD-US 1 26384982 26384982 single base substitution C T downstream_gene_variant COAD-US 1 26384982 26384982 single base substitution C T missense_variant A244T 730G>A COAD-US 1 26387773 26387773 single base substitution T G exon_variant COAD-US 1 26387773 26387773 single base substitution T G missense_variant K129Q 385A>C COCA-CN 1 26378270 26378270 single base substitution C T 3_prime_UTR_variant COCA-CN 1 26380354 26380354 single base substitution C T intron_variant COCA-CN 1 26387823 26387823 single base substitution C T missense_variant R112Q 335G>A COCA-CN 1 26387823 26387823 single base substitution C T splice_region_variant ESAD-UK 1 26373171 26373171 single base substitution G A downstream_gene_variant ESAD-UK 1 26374616 26374616 single base substitution G A downstream_gene_variant ESAD-UK 1 26377961 26377961 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 26378224 26378224 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 26379403 26379403 deletion of <=200bp A - intron_variant ESAD-UK 1 26379889 26379889 single base substitution G A intron_variant ESAD-UK 1 26379917 26379917 single base substitution G C intron_variant ESAD-UK 1 26380869 26380869 single base substitution T G intron_variant ESAD-UK 1 26382229 26382229 single base substitution T G intron_variant ESAD-UK 1 26383550 26383550 single base substitution G A downstream_gene_variant ESAD-UK 1 26383550 26383550 single base substitution G A intron_variant ESAD-UK 1 26386408 26386408 single base substitution T C downstream_gene_variant ESAD-UK 1 26386408 26386408 single base substitution T C intron_variant ESAD-UK 1 26387885 26387885 single base substitution G T intron_variant ESAD-UK 1 26389873 26389873 single base substitution A T intron_variant ESAD-UK 1 26393630 26393630 single base substitution T G intron_variant ESAD-UK 1 26396595 26396595 single base substitution T C upstream_gene_variant ESAD-UK 1 26396610 26396610 single base substitution T C upstream_gene_variant ESAD-UK 1 26398582 26398582 single base substitution T G upstream_gene_variant ESCA-CN 1 26385003 26385003 single base substitution T C downstream_gene_variant ESCA-CN 1 26385003 26385003 single base substitution T C missense_variant K237E 709A>G KIRC-US 1 26385106 26385106 single base substitution A C downstream_gene_variant KIRC-US 1 26385106 26385106 single base substitution A C missense_variant S202R 606T>G KIRP-US 1 26386776 26386776 single base substitution T A downstream_gene_variant KIRP-US 1 26386776 26386776 single base substitution T A missense_variant D193V 578A>T LGG-US 1 26387782 26387782 single base substitution C T exon_variant LGG-US 1 26387782 26387782 single base substitution C T missense_variant E126K 376G>A LGG-US 1 26387823 26387823 single base substitution C T missense_variant R112Q 335G>A LGG-US 1 26387823 26387823 single base substitution C T splice_region_variant LINC-JP 1 26374817 26374817 single base substitution A G downstream_gene_variant LINC-JP 1 26386801 26386801 single base substitution G A downstream_gene_variant LINC-JP 1 26386801 26386801 single base substitution G A stop_gained Q185* 553C>T LIRI-JP 1 26374302 26374302 single base substitution G T downstream_gene_variant LIRI-JP 1 26375175 26375175 single base substitution C T downstream_gene_variant LIRI-JP 1 26376944 26376944 single base substitution G A downstream_gene_variant LIRI-JP 1 26379060 26379060 single base substitution C A intron_variant LIRI-JP 1 26379552 26379552 single base substitution A C intron_variant LIRI-JP 1 26381497 26381497 single base substitution A G intron_variant LIRI-JP 1 26381842 26381842 single base substitution C A intron_variant LIRI-JP 1 26383126 26383126 single base substitution C A downstream_gene_variant LIRI-JP 1 26383126 26383126 single base substitution C A intron_variant LIRI-JP 1 26384617 26384617 single base substitution T A downstream_gene_variant LIRI-JP 1 26384617 26384617 single base substitution T A intron_variant LIRI-JP 1 26384946 26384946 single base substitution A T downstream_gene_variant LIRI-JP 1 26384946 26384946 single base substitution A T missense_variant S256T 766T>A LIRI-JP 1 26385177 26385177 single base substitution C T downstream_gene_variant LIRI-JP 1 26385177 26385177 single base substitution C T intron_variant LIRI-JP 1 26386135 26386135 single base substitution A G downstream_gene_variant LIRI-JP 1 26386135 26386135 single base substitution A G intron_variant LIRI-JP 1 26388456 26388456 single base substitution G A intron_variant LIRI-JP 1 26389029 26389029 single base substitution A G intron_variant LIRI-JP 1 26391655 26391655 single base substitution C A intron_variant LIRI-JP 1 26392344 26392344 single base substitution A C intron_variant LIRI-JP 1 26398158 26398158 single base substitution A G upstream_gene_variant LIRI-JP 1 26398551 26398551 single base substitution G A upstream_gene_variant LUSC-KR 1 26372819 26372819 single base substitution C A downstream_gene_variant LUSC-KR 1 26374020 26374020 single base substitution G T downstream_gene_variant LUSC-KR 1 26374938 26374938 single base substitution G A downstream_gene_variant LUSC-KR 1 26379853 26379853 single base substitution C T intron_variant LUSC-KR 1 26380612 26380612 single base substitution C A intron_variant LUSC-KR 1 26380735 26380735 single base substitution G A intron_variant LUSC-KR 1 26383875 26383875 single base substitution A G downstream_gene_variant LUSC-KR 1 26383875 26383875 single base substitution A G intron_variant LUSC-KR 1 26385003 26385003 single base substitution T C downstream_gene_variant LUSC-KR 1 26385003 26385003 single base substitution T C missense_variant K237E 709A>G LUSC-KR 1 26385150 26385150 single base substitution G C downstream_gene_variant LUSC-KR 1 26385150 26385150 single base substitution G C intron_variant LUSC-KR 1 26391309 26391309 single base substitution C A intron_variant LUSC-KR 1 26393546 26393546 single base substitution A C intron_variant LUSC-KR 1 26395039 26395039 single base substitution A G upstream_gene_variant LUSC-KR 1 26395792 26395792 single base substitution C T upstream_gene_variant LUSC-KR 1 26397535 26397535 single base substitution C T upstream_gene_variant LUSC-KR 1 26397963 26397963 single base substitution G T upstream_gene_variant LUSC-KR 1 26399232 26399232 single base substitution C T upstream_gene_variant LUSC-US 1 26386826 26386826 single base substitution C T downstream_gene_variant LUSC-US 1 26386826 26386826 single base substitution C T missense_variant M176I 528G>A LUSC-US 1 26387757 26387757 single base substitution C G exon_variant LUSC-US 1 26387757 26387757 single base substitution C G missense_variant C134S 401G>C MALY-DE 1 26375558 26375559 deletion of <=200bp GT - downstream_gene_variant MALY-DE 1 26379813 26379813 single base substitution G T intron_variant MALY-DE 1 26383417 26383417 single base substitution C A downstream_gene_variant MALY-DE 1 26383417 26383417 single base substitution C A intron_variant MALY-DE 1 26384719 26384719 single base substitution G A downstream_gene_variant MALY-DE 1 26384719 26384719 single base substitution G A intron_variant MALY-DE 1 26385783 26385783 single base substitution G T downstream_gene_variant MALY-DE 1 26385783 26385783 single base substitution G T intron_variant MALY-DE 1 26386456 26386456 single base substitution A T downstream_gene_variant MALY-DE 1 26386456 26386456 single base substitution A T intron_variant MALY-DE 1 26387090 26387090 single base substitution C T downstream_gene_variant MALY-DE 1 26387090 26387090 single base substitution C T intron_variant MALY-DE 1 26387779 26387779 single base substitution C T exon_variant MALY-DE 1 26387779 26387779 single base substitution C T missense_variant D127N 379G>A MALY-DE 1 26396900 26396900 insertion of <=200bp - A upstream_gene_variant MELA-AU 1 26372856 26372856 single base substitution G A downstream_gene_variant MELA-AU 1 26373823 26373823 single base substitution C T downstream_gene_variant MELA-AU 1 26374385 26374385 single base substitution A T downstream_gene_variant MELA-AU 1 26374912 26374912 single base substitution C T downstream_gene_variant MELA-AU 1 26375384 26375384 single base substitution C A downstream_gene_variant MELA-AU 1 26375896 26375896 single base substitution C T downstream_gene_variant MELA-AU 1 26375999 26375999 single base substitution C T downstream_gene_variant MELA-AU 1 26376684 26376684 single base substitution C T downstream_gene_variant MELA-AU 1 26376948 26376949 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 26377923 26377923 single base substitution C T 3_prime_UTR_variant MELA-AU 1 26379019 26379019 single base substitution G A intron_variant MELA-AU 1 26379026 26379026 single base substitution G C intron_variant MELA-AU 1 26379043 26379043 single base substitution C A intron_variant MELA-AU 1 26379312 26379312 single base substitution G A intron_variant MELA-AU 1 26379793 26379793 single base substitution G A intron_variant MELA-AU 1 26379817 26379817 single base substitution C T intron_variant MELA-AU 1 26380746 26380746 single base substitution G A intron_variant MELA-AU 1 26381074 26381074 single base substitution G A intron_variant MELA-AU 1 26381506 26381506 single base substitution C A intron_variant MELA-AU 1 26381764 26381764 single base substitution C T intron_variant MELA-AU 1 26381924 26381924 single base substitution G A intron_variant MELA-AU 1 26382192 26382192 single base substitution G A intron_variant MELA-AU 1 26382425 26382425 single base substitution G A intron_variant MELA-AU 1 26383246 26383246 single base substitution G A downstream_gene_variant MELA-AU 1 26383246 26383246 single base substitution G A intron_variant MELA-AU 1 26383516 26383516 single base substitution A C downstream_gene_variant MELA-AU 1 26383516 26383516 single base substitution A C intron_variant MELA-AU 1 26383803 26383803 single base substitution G A downstream_gene_variant MELA-AU 1 26383803 26383803 single base substitution G A synonymous_variant S290S 870C>T MELA-AU 1 26384164 26384164 single base substitution G A downstream_gene_variant MELA-AU 1 26384164 26384164 single base substitution G A intron_variant MELA-AU 1 26384713 26384713 single base substitution G A downstream_gene_variant MELA-AU 1 26384713 26384713 single base substitution G A intron_variant MELA-AU 1 26385558 26385559 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 26385558 26385559 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 26385936 26385936 single base substitution C T downstream_gene_variant MELA-AU 1 26385936 26385936 single base substitution C T intron_variant MELA-AU 1 26385938 26385938 single base substitution G A downstream_gene_variant MELA-AU 1 26385938 26385938 single base substitution G A intron_variant MELA-AU 1 26386236 26386236 single base substitution C T downstream_gene_variant MELA-AU 1 26386236 26386236 single base substitution C T intron_variant MELA-AU 1 26386737 26386738 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 26386737 26386738 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 26386881 26386881 single base substitution G A downstream_gene_variant MELA-AU 1 26386881 26386881 single base substitution G A intron_variant MELA-AU 1 26386993 26386993 single base substitution G A downstream_gene_variant MELA-AU 1 26386993 26386993 single base substitution G A intron_variant MELA-AU 1 26387152 26387152 single base substitution A T downstream_gene_variant MELA-AU 1 26387152 26387152 single base substitution A T intron_variant MELA-AU 1 26387261 26387261 single base substitution C T downstream_gene_variant MELA-AU 1 26387261 26387261 single base substitution C T intron_variant MELA-AU 1 26387316 26387316 single base substitution G A downstream_gene_variant MELA-AU 1 26387316 26387316 single base substitution G A intron_variant MELA-AU 1 26387330 26387330 single base substitution G A downstream_gene_variant MELA-AU 1 26387330 26387330 single base substitution G A intron_variant MELA-AU 1 26387351 26387351 single base substitution G A downstream_gene_variant MELA-AU 1 26387351 26387351 single base substitution G A intron_variant MELA-AU 1 26387631 26387631 single base substitution G A downstream_gene_variant MELA-AU 1 26387631 26387631 single base substitution G A intron_variant MELA-AU 1 26388636 26388636 single base substitution C T intron_variant MELA-AU 1 26388731 26388731 single base substitution A C intron_variant MELA-AU 1 26388771 26388771 single base substitution A G intron_variant MELA-AU 1 26388824 26388824 single base substitution A G intron_variant MELA-AU 1 26389151 26389151 single base substitution A G intron_variant MELA-AU 1 26389671 26389671 single base substitution C T intron_variant MELA-AU 1 26390293 26390293 single base substitution G A intron_variant MELA-AU 1 26391317 26391317 single base substitution G A intron_variant MELA-AU 1 26391332 26391332 single base substitution G A intron_variant MELA-AU 1 26391470 26391470 single base substitution G A intron_variant MELA-AU 1 26391564 26391564 single base substitution G A intron_variant MELA-AU 1 26391925 26391925 single base substitution G A intron_variant MELA-AU 1 26392706 26392706 single base substitution G A intron_variant MELA-AU 1 26393061 26393061 single base substitution G T intron_variant MELA-AU 1 26393412 26393412 single base substitution A T intron_variant MELA-AU 1 26394304 26394304 single base substitution G A exon_variant MELA-AU 1 26394304 26394304 single base substitution G A upstream_gene_variant MELA-AU 1 26395727 26395727 single base substitution G A upstream_gene_variant MELA-AU 1 26396216 26396216 single base substitution G A upstream_gene_variant MELA-AU 1 26396452 26396452 single base substitution G A upstream_gene_variant MELA-AU 1 26396584 26396584 single base substitution G A upstream_gene_variant MELA-AU 1 26397131 26397131 single base substitution G A upstream_gene_variant MELA-AU 1 26397730 26397730 single base substitution C T upstream_gene_variant MELA-AU 1 26398625 26398625 single base substitution G A upstream_gene_variant MELA-AU 1 26398655 26398655 single base substitution G A upstream_gene_variant MELA-AU 1 26398704 26398704 single base substitution C A upstream_gene_variant MELA-AU 1 26398787 26398787 single base substitution A T upstream_gene_variant MELA-AU 1 26399087 26399087 single base substitution G A upstream_gene_variant MELA-AU 1 26399871 26399871 single base substitution G A upstream_gene_variant ORCA-IN 1 26384982 26384982 single base substitution C T downstream_gene_variant ORCA-IN 1 26384982 26384982 single base substitution C T missense_variant A244T 730G>A ORCA-IN 1 26395372 26395372 single base substitution G C upstream_gene_variant OV-AU 1 26373261 26373261 single base substitution C T downstream_gene_variant OV-AU 1 26373645 26373645 single base substitution G T downstream_gene_variant OV-AU 1 26375690 26375690 single base substitution A T downstream_gene_variant OV-AU 1 26379621 26379621 single base substitution A G intron_variant OV-AU 1 26383323 26383323 single base substitution G A downstream_gene_variant OV-AU 1 26383323 26383323 single base substitution G A intron_variant OV-AU 1 26384762 26384762 single base substitution T C downstream_gene_variant OV-AU 1 26384762 26384762 single base substitution T C intron_variant OV-AU 1 26385232 26385232 single base substitution C G downstream_gene_variant OV-AU 1 26385232 26385232 single base substitution C G intron_variant OV-AU 1 26389545 26389545 single base substitution G A intron_variant OV-AU 1 26392558 26392558 single base substitution G C intron_variant OV-AU 1 26396676 26396676 single base substitution G A upstream_gene_variant PACA-AU 1 26394585 26394585 single base substitution C T exon_variant PACA-AU 1 26394585 26394585 single base substitution C T upstream_gene_variant PACA-AU 1 26395342 26395342 deletion of <=200bp A - upstream_gene_variant PACA-AU 1 26399214 26399214 single base substitution G C upstream_gene_variant PACA-CA 1 26373351 26373351 single base substitution G A downstream_gene_variant PACA-CA 1 26385114 26385114 single base substitution C T downstream_gene_variant PACA-CA 1 26385114 26385114 single base substitution C T missense_variant E200K 598G>A PACA-CA 1 26388207 26388207 single base substitution G T intron_variant PACA-CA 1 26391810 26391810 single base substitution C T intron_variant PACA-CA 1 26392779 26392779 single base substitution G C exon_variant PACA-CA 1 26392779 26392779 single base substitution G C missense_variant I104M 312C>G PACA-CA 1 26395692 26395692 single base substitution C T upstream_gene_variant PACA-CA 1 26395989 26395989 insertion of <=200bp - G upstream_gene_variant PACA-CA 1 26396224 26396224 single base substitution G T upstream_gene_variant PACA-CA 1 26396286 26396286 single base substitution G C upstream_gene_variant PACA-CA 1 26398594 26398594 single base substitution T G upstream_gene_variant PAEN-AU 1 26373125 26373125 single base substitution T G downstream_gene_variant PAEN-AU 1 26375105 26375105 single base substitution T C downstream_gene_variant PAEN-AU 1 26378440 26378440 single base substitution C T intron_variant PBCA-DE 1 26378122 26378122 single base substitution A T 3_prime_UTR_variant PBCA-DE 1 26383632 26383632 single base substitution G T downstream_gene_variant PBCA-DE 1 26383632 26383632 single base substitution G T intron_variant PBCA-DE 1 26384416 26384416 single base substitution C T downstream_gene_variant PBCA-DE 1 26384416 26384416 single base substitution C T intron_variant PBCA-DE 1 26384808 26384808 insertion of <=200bp - G downstream_gene_variant PBCA-DE 1 26384808 26384808 insertion of <=200bp - G intron_variant PBCA-DE 1 26385122 26385122 single base substitution C T downstream_gene_variant PBCA-DE 1 26385122 26385122 single base substitution C T splice_region_variant PBCA-DE 1 26389752 26389752 single base substitution C T intron_variant PRAD-UK 1 26375011 26375011 single base substitution C T downstream_gene_variant PRAD-UK 1 26388696 26388696 single base substitution G A intron_variant PRAD-UK 1 26388737 26388737 single base substitution G T intron_variant RECA-EU 1 26377769 26377769 single base substitution A C downstream_gene_variant RECA-EU 1 26378057 26378057 single base substitution A G 3_prime_UTR_variant RECA-EU 1 26394300 26394300 single base substitution C T exon_variant RECA-EU 1 26394300 26394300 single base substitution C T upstream_gene_variant SKCA-BR 1 26375477 26375477 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 1 26383467 26383467 single base substitution T C downstream_gene_variant SKCA-BR 1 26383467 26383467 single base substitution T C intron_variant SKCA-BR 1 26383573 26383573 single base substitution T C downstream_gene_variant SKCA-BR 1 26383573 26383573 single base substitution T C intron_variant SKCA-BR 1 26385988 26385988 single base substitution C T downstream_gene_variant SKCA-BR 1 26385988 26385988 single base substitution C T intron_variant SKCA-BR 1 26388207 26388207 single base substitution G A intron_variant SKCA-BR 1 26388761 26388761 insertion of <=200bp - CA intron_variant SKCA-BR 1 26390741 26390741 single base substitution G A intron_variant SKCA-BR 1 26391849 26391849 single base substitution A C intron_variant SKCA-BR 1 26395741 26395741 single base substitution G A upstream_gene_variant SKCA-BR 1 26395991 26395991 single base substitution G T upstream_gene_variant SKCA-BR 1 26398583 26398583 single base substitution T G upstream_gene_variant SKCA-BR 1 26398584 26398585 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 1 26398587 26398588 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 1 26398588 26398588 single base substitution G T upstream_gene_variant SKCM-US 1 26383786 26383786 single base substitution C T downstream_gene_variant SKCM-US 1 26383786 26383786 single base substitution C T missense_variant G296E 887G>A SKCM-US 1 26384907 26384907 single base substitution C T downstream_gene_variant SKCM-US 1 26384907 26384907 single base substitution C T missense_variant E269K 805G>A SKCM-US 1 26385114 26385114 single base substitution C T downstream_gene_variant SKCM-US 1 26385114 26385114 single base substitution C T missense_variant E200K 598G>A SKCM-US 1 26393830 26393830 single base substitution G A exon_variant SKCM-US 1 26393830 26393830 single base substitution G A synonymous_variant F52F 156C>T SKCM-US 1 26393949 26393949 single base substitution G A exon_variant SKCM-US 1 26393949 26393949 single base substitution G A missense_variant P13S 37C>T STAD-US 1 26383771 26383771 single base substitution C T downstream_gene_variant STAD-US 1 26383771 26383771 single base substitution C T missense_variant G301D 902G>A STAD-US 1 26384893 26384893 single base substitution G T downstream_gene_variant STAD-US 1 26384893 26384893 single base substitution G T synonymous_variant A273A 819C>A STAD-US 1 26385070 26385070 single base substitution G A downstream_gene_variant STAD-US 1 26385070 26385070 single base substitution G A synonymous_variant D214D 642C>T STAD-US 1 26385077 26385077 single base substitution T G downstream_gene_variant STAD-US 1 26385077 26385077 single base substitution T G missense_variant K212T 635A>C UCEC-US 1 26393918 26393918 single base substitution C T exon_variant UCEC-US 1 26393918 26393918 single base substitution C T missense_variant C23Y 68G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S02248 COSM5679341 c.951C>A p.D317E Substitution - Missense 1:26057231-26057231 - M006 COSM1738424 c.700G>A p.E234K Substitution - Missense 1:26058521-26058521 - 250LT COSM3997446 c.709A>G p.K237E Substitution - Missense 1:26058512-26058512 - HCT15 COSM1667281 c.442T>G p.F148V Substitution - Missense 1:26061225-26061225 - CSCC-55-T COSM4488236 c.329C>T p.S110F Substitution - Missense 1:26066271-26066271 - SNUH_G76_S1 COSM3997446 c.709A>G p.K237E Substitution - Missense 1:26058512-26058512 - T2269 COSM4736205 c.306C>T p.I102I Substitution - coding silent 1:26066294-26066294 - TCGA-AA-3977-01 COSM5117203 c.45G>A p.E15E Substitution - coding silent 1:26067450-26067450 - TCGA-EE-A3JI-06 COSM3487439 c.887G>A p.G296E Substitution - Missense 1:26057295-26057295 - S00831 COSM5660402 c.815G>T p.G272V Substitution - Missense 1:26058406-26058406 - MO_1221 COSM5553144 c.753G>A p.E251E Substitution - coding silent 1:26058468-26058468 - 3206A7_017_T COSM5041282 c.796T>C p.S266P Substitution - Missense 1:26058425-26058425 - TCGA-CD-A48C-01 COSM4030932 c.635A>C p.K212T Substitution - Missense 1:26058586-26058586 - 587226 COSM1230382 c.689G>A p.R230Q Substitution - Missense 1:26058532-26058532 - LIM1899 COSM4639907 c.408G>A p.T136T Substitution - coding silent 1:26061259-26061259 - TCGA-BF-A1PX-01 COSM4905480 c.805G>A p.E269K Substitution - Missense 1:26058416-26058416 - S02378 COSM5697403 c.982G>A p.E328K Substitution - Missense 1:26053962-26053962 - B88-Tumor COSM3930725 c.229A>C p.T77P Substitution - Missense 1:26066371-26066371 - HCT-15 COSM1667281 c.442T>G p.F148V Substitution - Missense 1:26061225-26061225 - 587376 COSM1230383 c.921C>A p.F307L Substitution - Missense 1:26057261-26057261 - TCGA-DU-7012-01 COSM3966486 c.335G>A p.R112Q Substitution - Missense 1:26061332-26061332 - YUROC COSM5380472 c.815G>A p.G272E Substitution - Missense 1:26058406-26058406 - S02400 COSM5702462 c.984_985GG>TT p.E328_E329>D* Complex - compound substitution 1:26053959-26053960 - PCSI_0019_Pa_P_526 COSM216284 c.598G>A p.E200K Substitution - Missense 1:26058623-26058623 - B96-Tumor COSM1748307 c.765G>A p.K255K Substitution - coding silent 1:26058456-26058456 - S00946 COSM316168 c.767C>A p.S256Y Substitution - Missense 1:26058454-26058454 - ICGC_MB82 COSM3764174 c.598-8G>A p.? Unknown 1:26058631-26058631 - OSCC-GB_00390111 COSM1341301 c.730G>A p.A244T Substitution - Missense 1:26058491-26058491 - MPCC_0039_Pa_C COSM216284 c.598G>A p.E200K Substitution - Missense 1:26058623-26058623 - CSCC-27-T COSM4544114 c.349G>A p.G117S Substitution - Missense 1:26061318-26061318 - ZZUFHECRKL-G060T COSM3997446 c.709A>G p.K237E Substitution - Missense 1:26058512-26058512 - PT49 COSM5934448 c.160-1G>A p.? Unknown 1:26066441-26066441 - TCGA-AZ-6598-01 COSM5140833 c.1030T>C p.S344P Substitution - Missense 1:26053914-26053914 - TCGA-56-5898-01 COSM680208 c.528G>A p.M176I Substitution - Missense 1:26060335-26060335 - CCC4T COSM3705746 c.553C>T p.Q185* Substitution - Nonsense 1:26060310-26060310 - TCGA-A8-A09M-01 COSM425978 c.583C>G p.R195G Substitution - Missense 1:26060280-26060280 - 39T COSM1341301 c.730G>A p.A244T Substitution - Missense 1:26058491-26058491 - LUAD-YINHD COSM350025 c.695C>A p.T232K Substitution - Missense 1:26058526-26058526 - TCGA-AP-A059-01 COSM907575 c.68G>A p.C23Y Substitution - Missense 1:26067427-26067427 - TCGA-CD-A4MG-01 COSM4030929 c.902G>A p.G301D Substitution - Missense 1:26057280-26057280 - TCGA-AZ-4315-01 COSM1341302 c.385A>C p.K129Q Substitution - Missense 1:26061282-26061282 - PT37 COSM5917457 c.159G>A p.Q53Q Substitution - coding silent 1:26067336-26067336 - ESO-1130 COSM1268567 c.1051G>A p.G351R Substitution - Missense 1:26053893-26053893 - S02274 COSM5682339 c.536C>T p.A179V Substitution - Missense 1:26060327-26060327 - RK134_C01 COSM3700694 c.766T>A p.S256T Substitution - Missense 1:26058455-26058455 - TCGA-EE-A2MS-06 COSM3487440 c.37C>T p.P13S Substitution - Missense 1:26067458-26067458 - ESCC_134 COSM5642645 c.277C>T p.Q93* Substitution - Nonsense 1:26066323-26066323 - PCSI_0019_Pa_X COSM216284 c.598G>A p.E200K Substitution - Missense 1:26058623-26058623 - LUAD-RT-S01711 COSM380053 c.480G>T p.Q160H Substitution - Missense 1:26061187-26061187 - TCGA-AA-A010-01 COSM285958 c.764A>C p.K255T Substitution - Missense 1:26058457-26058457 - SA230 COSM212690 c.92C>A p.T31N Substitution - Missense 1:26067403-26067403 - BD72T COSM2234860 c.951C>T p.D317D Substitution - coding silent 1:26057231-26057231 - YUKSI COSM5380473 c.581C>T p.S194F Substitution - Missense 1:26060282-26060282 - TCGA-AA-A01K-01 COSM299994 c.343C>A p.Q115K Substitution - Missense 1:26061324-26061324 - PCSI_0019_Pa_P COSM216284 c.598G>A p.E200K Substitution - Missense 1:26058623-26058623 - CCC4 COSM3705746 c.553C>T p.Q185* Substitution - Nonsense 1:26060310-26060310 - ESO-1481 COSM1268568 c.612G>T p.Q204H Substitution - Missense 1:26058609-26058609 - TCGA-BR-8487-01 COSM4030930 c.819C>A p.A273A Substitution - coding silent 1:26058402-26058402 - D13 COSM3966486 c.335G>A p.R112Q Substitution - Missense 1:26061332-26061332 - TCGA-13-0913-01 COSM117486 c.469G>T p.A157S Substitution - Missense 1:26061198-26061198 - TCGA-D5-6530-01 COSM5161967 c.237C>T p.R79R Substitution - coding silent 1:26066363-26066363 - BL2 COSM1160917 c.379G>A p.D127N Substitution - Missense 1:26061288-26061288 - PR-09-2767 COSM247993 c.106A>C p.I36L Substitution - Missense 1:26067389-26067389 - SNUH_G76_S1 COSM4418008 c.12G>A p.K4K Substitution - coding silent 1:26067483-26067483 - T3094 COSM4736204 c.695C>T p.T232M Substitution - Missense 1:26058526-26058526 - TCGA-34-5929-01 COSM680207 c.401G>C p.C134S Substitution - Missense 1:26061266-26061266 - TCGA-D5-6928-01 COSM1341300 c.951C>G p.D317E Substitution - Missense 1:26057231-26057231 - cSCCP7 COSM139275 c.980-1G>A p.? Unknown 1:26053965-26053965 - S00539 COSM316167 c.721T>G p.F241V Substitution - Missense 1:26058500-26058500 - TCGA-BT-A20R-01 COSM1296208 c.345G>A p.Q115Q Substitution - coding silent 1:26061322-26061322 - TCGA-EE-A29B-06 COSM216284 c.598G>A p.E200K Substitution - Missense 1:26058623-26058623 - GC8_T COSM146453 c.709A>G p.K237E Substitution - Missense 1:26058512-26058512 - TCGA-B8-4621-01 COSM464346 c.606T>G p.S202R Substitution - Missense 1:26058615-26058615 - B86-Tumor COSM1748308 c.66C>G p.I22M Substitution - Missense 1:26067429-26067429 - SNUH_G45_S1 COSM3997446 c.709A>G p.K237E Substitution - Missense 1:26058512-26058512 - PCSI0019 COSM216284 c.598G>A p.E200K Substitution - Missense 1:26058623-26058623 - CSCC-27-T COSM4540360 c.282G>A p.R94R Substitution - coding silent 1:26066318-26066318 - S00539 COSM316167 c.721T>G p.F241V Substitution - Missense 1:26058500-26058500 - tumor_4119027 COSM1160917 c.379G>A p.D127N Substitution - Missense 1:26061288-26061288 - CSCC-38-T COSM4447369 c.1051+3A>T p.? Unknown 1:26053890-26053890 - Au3 COSM5602475 c.429C>T p.S143S Substitution - coding silent 1:26061238-26061238 - TCGA-FW-A3R5-06 COSM3865177 c.156C>T p.F52F Substitution - coding silent 1:26067339-26067339 - TCGA-DW-7838-01 COSM3984927 c.578A>T p.D193V Substitution - Missense 1:26060285-26060285 - PT49 COSM5934449 c.831+1G>C p.? Unknown 1:26058389-26058389 - TCGA-HT-8564-01 COSM3966485 c.376G>A p.E126K Substitution - Missense 1:26061291-26061291 - HT115 COSM2234872 c.462C>T p.C154C Substitution - coding silent 1:26061205-26061205 - B96 COSM1748307 c.765G>A p.K255K Substitution - coding silent 1:26058456-26058456 - B86 COSM1748308 c.66C>G p.I22M Substitution - Missense 1:26067429-26067429 - LB1047-RCC COSM23468 c.256C>T p.R86C Substitution - Missense 1:26066344-26066344 - S02342 COSM5692367 c.51G>T p.L17F Substitution - Missense 1:26067444-26067444 - TCGA-D5-6928-01 COSM1341301 c.730G>A p.A244T Substitution - Missense 1:26058491-26058491 - SNUH_G26_S1 COSM3997446 c.709A>G p.K237E Substitution - Missense 1:26058512-26058512 - STC252 COSM5053349 c.100G>A p.V34M Substitution - Missense 1:26067395-26067395 - TCGA-BR-8078-01 COSM4030931 c.642C>T p.D214D Substitution - coding silent 1:26058579-26058579 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.279709 1p34-p33 606131

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F241V c.721T>G 1 26384991 SCLC A C Missense p.S202R c.606T>G 1 26385106 RCCC A G IntronicSNV . c.979+14T>C 1 26383680 PIA C A Missense p.A157S c.469G>T 1 26387689 OV C A Missense p.A54S c.160G>T 1 26392931 LUAD C A Missense p.Q204H c.612G>T 1 26385100 ESCA C G Missense p.C134S c.401G>C 1 26387757 LUSC C G Synonymous p.R62R c.186G>C 1 26392905 CM C G Synonymous p.V197V c.591G>C 1 26386763 MM C T 3-UTRSNV . c.1059+69G>A 1 26378298 CM C T Missense p.D10N c.28G>A 1 26393958 BRCA C T Missense p.D127N c.379G>A 1 26387779 DLBCL C T Missense p.E200K c.598G>A 1 26385114 CM C T Missense p.E200K c.598G>A 1 26385114 PAAD C T Missense p.G296E c.887G>A 1 26383786 CM C T Missense p.M176I c.528G>A 1 26386826 LUSC C T Synonymous p.Q115Q c.345G>A 1 26387813 BLCA G A Missense p.A179V c.536C>T 1 26386818 STAD G A Missense p.P13S c.37C>T 1 26393949 CM G C Missense p.R195G c.583C>G 1 26386771 BRCA G T Missense p.Q115K c.343C>A 1 26387815 COREAD G T Missense p.S256Y c.767C>A 1 26384945 SCLC G T Missense p.T31N c.92C>A 1 26393894 BRCA T A Synonymous p.R196R c.588A>T 1 26386766 LUAD T G Missense p.K106Q c.316A>C 1 26392775 HNSC