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 12 16036570 16036570 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr12:16036570G>T c.208G>T c.(208-210)Gat>Tat p.D70Y BLCA 12 16048298 16048298 + Nonsense_Mutation SNP G G A TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr12:16048298G>A c.506G>A c.(505-507)tGg>tAg p.W169* BLCA 12 16048417 16048417 + Missense_Mutation SNP C C T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr12:16048417C>T c.625C>T c.(625-627)Cat>Tat p.H209Y BLCA 12 16050868 16050868 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr12:16050868C>G c.691C>G c.(691-693)Ctt>Gtt p.L231V BLCA 12 16052899 16052899 + Silent SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr12:16052899C>T c.837C>T c.(835-837)ctC>ctT p.L279L BLCA 12 16052918 16052918 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 g.chr12:16052918G>A c.856G>A c.(856-858)Gat>Aat p.D286N BRCA 12 16036560 16036560 + Silent SNP A A G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:16036560A>G c.198A>G c.(196-198)acA>acG p.T66T BRCA 12 16050834 16050834 + Silent SNP C C A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 g.chr12:16050834C>A c.657C>A c.(655-657)tcC>tcA p.S219S BRCA 12 16055855 16055855 + Missense_Mutation SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chr12:16055855A>T c.996A>T c.(994-996)gaA>gaT p.E332D CESC 12 16052915 16052915 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr12:16052915G>C c.853G>C c.(853-855)Gaa>Caa p.E285Q COAD 12 16035690 16035690 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr12:16035690G>A c.49G>A c.(49-51)Gtg>Atg p.V17M COAD 12 16036524 16036524 + Silent SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:16036524A>C c.162A>C c.(160-162)acA>acC p.T54T COAD 12 16036586 16036586 + Missense_Mutation SNP C C A TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr12:16036586C>A c.224C>A c.(223-225)gCt>gAt p.A75D COAD 12 16042944 16042944 + Splice_Site SNP G G T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:16042944G>T c.e3+1 COAD 12 16050903 16050903 + Silent SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr12:16050903T>C c.726T>C c.(724-726)ggT>ggC p.G242G COADREAD 12 16035690 16035690 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr12:16035690G>A c.49G>A c.(49-51)Gtg>Atg p.V17M COADREAD 12 16036524 16036524 + Silent SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:16036524A>C c.162A>C c.(160-162)acA>acC p.T54T COADREAD 12 16036586 16036586 + Missense_Mutation SNP C C A TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr12:16036586C>A c.224C>A c.(223-225)gCt>gAt p.A75D COADREAD 12 16042944 16042944 + Splice_Site SNP G G T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:16042944G>T c.e3+1 COADREAD 12 16043574 16043574 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr12:16043574G>A c.374G>A c.(373-375)cGc>cAc p.R125H COADREAD 12 16050903 16050903 + Silent SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr12:16050903T>C c.726T>C c.(724-726)ggT>ggC p.G242G DLBC 12 16042908 16042908 + Missense_Mutation SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr12:16042908C>T c.295C>T c.(295-297)Cat>Tat p.H99Y ESCA 12 16043540 16043540 + Missense_Mutation SNP T T G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 g.chr12:16043540T>G c.340T>G c.(340-342)Tat>Gat p.Y114D ESCA 12 16052859 16052859 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr12:16052859G>T c.797G>T c.(796-798)gGt>gTt p.G266V GBMLGG 12 16036493 16036493 + Missense_Mutation SNP G G A TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr12:16036493G>A c.131G>A c.(130-132)cGc>cAc p.R44H GBMLGG 12 16050900 16050900 + Silent SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 g.chr12:16050900C>T c.723C>T c.(721-723)ggC>ggT p.G241G HNSC 12 16048404 16048404 + Silent SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr12:16048404A>G c.612A>G c.(610-612)cgA>cgG p.R204R HNSC 12 16052888 16052888 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr12:16052888G>C c.826G>C c.(826-828)Gat>Cat p.D276H KIPAN 12 16043580 16043580 + Frame_Shift_Del DEL A A - TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr12:16043580delA c.380delA c.(379-381)tatfs p.Y127fs KIRP 12 16043580 16043580 + Frame_Shift_Del DEL A A - TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr12:16043580delA c.380delA c.(379-381)tatfs p.Y127fs LGG 12 16036493 16036493 + Missense_Mutation SNP G G A TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr12:16036493G>A c.131G>A c.(130-132)cGc>cAc p.R44H LGG 12 16050900 16050900 + Silent SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 g.chr12:16050900C>T c.723C>T c.(721-723)ggC>ggT p.G241G LIHC 12 16035698 16035698 + Frame_Shift_Del DEL T T - TCGA-DD-A1EF-01A-11D-A12Z-10 TCGA-DD-A1EF-10A-01D-A12Z-10 g.chr12:16035698delT c.57delT c.(55-57)gatfs p.D19fs LIHC 12 16047053 16047053 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr12:16047053delT c.476delT c.(475-477)cttfs p.L159fs LUAD 12 16035650 16035650 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr12:16035650G>T c.9G>T c.(7-9)atG>atT p.M3I LUAD 12 16043573 16043573 + Missense_Mutation SNP C C T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr12:16043573C>T c.373C>T c.(373-375)Cgc>Tgc p.R125C LUSC 12 16043599 16043599 + Missense_Mutation SNP A A C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr12:16043599A>C c.399A>C c.(397-399)gaA>gaC p.E133D LUSC 12 16047010 16047010 + Missense_Mutation SNP G G T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr12:16047010G>T c.433G>T c.(433-435)Ggt>Tgt p.G145C LUSC 12 16048369 16048369 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:16048369C>T c.577C>T c.(577-579)Cct>Tct p.P193S LUSC 12 16052959 16052959 + Silent SNP G G C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr12:16052959G>C c.897G>C c.(895-897)acG>acC p.T299T OV 12 16042945 16042945 + Splice_Site DEL T T - TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 g.chr12:16042945delT c.e3+2 PAAD 12 16047046 16047046 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:16047046C>T c.469C>T c.(469-471)Cag>Tag p.Q157* PRAD 12 16053889 16053889 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:16053889A>G c.934A>G c.(934-936)Agt>Ggt p.S312G PRAD 12 16055902 16055902 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:16055902T>C c.1043T>C c.(1042-1044)gTt>gCt p.V348A READ 12 16043574 16043574 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr12:16043574G>A c.374G>A c.(373-375)cGc>cAc p.R125H SKCM 12 16036573 16036573 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr12:16036573G>A c.211G>A c.(211-213)Gcc>Acc p.A71T SKCM 12 16050834 16050834 + Silent SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr12:16050834C>T c.657C>T c.(655-657)tcC>tcT p.S219S SKCM 12 16050871 16050871 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr12:16050871C>T c.694C>T c.(694-696)Cat>Tat p.H232Y SKCM 12 16052848 16052848 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:16052848G>A c.786G>A c.(784-786)aaG>aaA p.K262K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 12 16036570 16036570 single base substitution G T intron_variant BLCA-US 12 16036570 16036570 single base substitution G T missense_variant D70Y 208G>T BLCA-US 12 16036570 16036570 single base substitution G T missense_variant D83Y 247G>T BLCA-US 12 16052918 16052918 single base substitution G A 3_prime_UTR_variant BLCA-US 12 16052918 16052918 single base substitution G A downstream_gene_variant BLCA-US 12 16052918 16052918 single base substitution G A missense_variant D192N 574G>A BLCA-US 12 16052918 16052918 single base substitution G A missense_variant D286N 856G>A BLCA-US 12 16052918 16052918 single base substitution G A missense_variant D299N 895G>A BLCA-US 12 16052918 16052918 single base substitution G A missense_variant D52N 154G>A BLCA-US 12 16052918 16052918 single base substitution G A upstream_gene_variant BOCA-FR 12 16043542 16043542 single base substitution T C 3_prime_UTR_variant BOCA-FR 12 16043542 16043542 single base substitution T C synonymous_variant Y114Y 342T>C BOCA-FR 12 16043542 16043542 single base substitution T C synonymous_variant Y127Y 381T>C BOCA-FR 12 16043542 16043542 single base substitution T C synonymous_variant Y20Y 60T>C BOCA-FR 12 16043542 16043542 single base substitution T C upstream_gene_variant BRCA-EU 12 16030470 16030470 single base substitution T C upstream_gene_variant BRCA-EU 12 16030565 16030565 single base substitution C T upstream_gene_variant BRCA-EU 12 16031042 16031042 single base substitution C T upstream_gene_variant BRCA-EU 12 16031454 16031454 single base substitution G T upstream_gene_variant BRCA-EU 12 16031636 16031636 single base substitution A C upstream_gene_variant BRCA-EU 12 16031765 16031765 single base substitution G C upstream_gene_variant BRCA-EU 12 16032470 16032470 single base substitution T C upstream_gene_variant BRCA-EU 12 16033657 16033657 single base substitution C G upstream_gene_variant BRCA-EU 12 16034175 16034175 single base substitution A T upstream_gene_variant BRCA-EU 12 16035309 16035309 deletion of <=200bp C - upstream_gene_variant BRCA-EU 12 16036650 16036650 single base substitution A T intron_variant BRCA-EU 12 16038191 16038191 single base substitution C T intron_variant BRCA-EU 12 16038656 16038656 single base substitution T C intron_variant BRCA-EU 12 16038717 16038717 deletion of <=200bp T - intron_variant BRCA-EU 12 16039587 16039587 single base substitution G A intron_variant BRCA-EU 12 16041645 16041645 insertion of <=200bp - T intron_variant BRCA-EU 12 16041991 16041991 single base substitution C A intron_variant BRCA-EU 12 16042705 16042705 single base substitution C T intron_variant BRCA-EU 12 16043258 16043258 single base substitution C T intron_variant BRCA-EU 12 16043262 16043262 single base substitution C T intron_variant BRCA-EU 12 16043301 16043301 single base substitution T A intron_variant BRCA-EU 12 16044872 16044872 single base substitution C G intron_variant BRCA-EU 12 16044872 16044872 single base substitution C G upstream_gene_variant BRCA-EU 12 16045052 16045052 single base substitution C T intron_variant BRCA-EU 12 16045052 16045052 single base substitution C T upstream_gene_variant BRCA-EU 12 16046977 16046977 single base substitution C T splice_region_variant BRCA-EU 12 16046977 16046977 single base substitution C T upstream_gene_variant BRCA-EU 12 16047521 16047521 single base substitution G C intron_variant BRCA-EU 12 16047521 16047521 single base substitution G C upstream_gene_variant BRCA-EU 12 16049121 16049121 single base substitution T C intron_variant BRCA-EU 12 16049121 16049121 single base substitution T C upstream_gene_variant BRCA-EU 12 16049185 16049185 single base substitution A G intron_variant BRCA-EU 12 16049185 16049185 single base substitution A G upstream_gene_variant BRCA-EU 12 16049473 16049473 single base substitution T A intron_variant BRCA-EU 12 16049473 16049473 single base substitution T A upstream_gene_variant BRCA-EU 12 16049554 16049554 single base substitution C T intron_variant BRCA-EU 12 16049554 16049554 single base substitution C T upstream_gene_variant BRCA-EU 12 16050296 16050296 single base substitution C T intron_variant BRCA-EU 12 16050296 16050296 single base substitution C T upstream_gene_variant BRCA-EU 12 16052175 16052175 single base substitution A G downstream_gene_variant BRCA-EU 12 16052175 16052175 single base substitution A G intron_variant BRCA-EU 12 16052175 16052175 single base substitution A G upstream_gene_variant BRCA-EU 12 16052573 16052573 single base substitution C A downstream_gene_variant BRCA-EU 12 16052573 16052573 single base substitution C A intron_variant BRCA-EU 12 16052573 16052573 single base substitution C A upstream_gene_variant BRCA-EU 12 16053977 16053977 single base substitution G A downstream_gene_variant BRCA-EU 12 16053977 16053977 single base substitution G A intron_variant BRCA-EU 12 16055095 16055095 single base substitution A G downstream_gene_variant BRCA-EU 12 16055095 16055095 single base substitution A G intron_variant BRCA-EU 12 16055898 16055898 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 16055898 16055898 single base substitution G C downstream_gene_variant BRCA-EU 12 16055898 16055898 single base substitution G C exon_variant BRCA-EU 12 16055898 16055898 single base substitution G C missense_variant D253H 757G>C BRCA-EU 12 16055898 16055898 single base substitution G C missense_variant D347H 1039G>C BRCA-EU 12 16055898 16055898 single base substitution G C missense_variant D360H 1078G>C BRCA-EU 12 16055898 16055898 single base substitution G C missense_variant D91H 271G>C BRCA-EU 12 16056865 16056865 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 16057355 16057355 single base substitution C T downstream_gene_variant BRCA-EU 12 16060572 16060572 single base substitution C T downstream_gene_variant BRCA-EU 12 16060922 16060922 single base substitution C G downstream_gene_variant BRCA-FR 12 16031765 16031765 single base substitution G C upstream_gene_variant BRCA-FR 12 16043379 16043379 single base substitution T C intron_variant BRCA-FR 12 16045286 16045286 single base substitution T G intron_variant BRCA-FR 12 16045286 16045286 single base substitution T G upstream_gene_variant BRCA-FR 12 16047521 16047521 single base substitution G C intron_variant BRCA-FR 12 16047521 16047521 single base substitution G C upstream_gene_variant BRCA-FR 12 16049121 16049121 single base substitution T C intron_variant BRCA-FR 12 16049121 16049121 single base substitution T C upstream_gene_variant BRCA-FR 12 16049554 16049554 single base substitution C T intron_variant BRCA-FR 12 16049554 16049554 single base substitution C T upstream_gene_variant BRCA-FR 12 16057965 16057965 single base substitution C T downstream_gene_variant BRCA-UK 12 16060572 16060572 single base substitution C T downstream_gene_variant BRCA-US 12 16036560 16036560 single base substitution A G intron_variant BRCA-US 12 16036560 16036560 single base substitution A G synonymous_variant T66T 198A>G BRCA-US 12 16036560 16036560 single base substitution A G synonymous_variant T79T 237A>G BRCA-US 12 16050834 16050834 single base substitution C A 3_prime_UTR_variant BRCA-US 12 16050834 16050834 single base substitution C A exon_variant BRCA-US 12 16050834 16050834 single base substitution C A synonymous_variant S125S 375C>A BRCA-US 12 16050834 16050834 single base substitution C A synonymous_variant S219S 657C>A BRCA-US 12 16050834 16050834 single base substitution C A synonymous_variant S232S 696C>A BRCA-US 12 16050834 16050834 single base substitution C A upstream_gene_variant BRCA-US 12 16055855 16055855 single base substitution A T 3_prime_UTR_variant BRCA-US 12 16055855 16055855 single base substitution A T downstream_gene_variant BRCA-US 12 16055855 16055855 single base substitution A T exon_variant BRCA-US 12 16055855 16055855 single base substitution A T missense_variant E238D 714A>T BRCA-US 12 16055855 16055855 single base substitution A T missense_variant E332D 996A>T BRCA-US 12 16055855 16055855 single base substitution A T missense_variant E345D 1035A>T BRCA-US 12 16055855 16055855 single base substitution A T missense_variant E76D 228A>T BTCA-JP 12 16035776 16035776 single base substitution T C intron_variant BTCA-JP 12 16036133 16036133 single base substitution G T intron_variant BTCA-JP 12 16043682 16043682 single base substitution T C intron_variant BTCA-JP 12 16043682 16043682 single base substitution T C upstream_gene_variant BTCA-JP 12 16048491 16048491 deletion of <=200bp A - intron_variant BTCA-JP 12 16048491 16048491 deletion of <=200bp A - upstream_gene_variant BTCA-JP 12 16053046 16053046 single base substitution T G downstream_gene_variant BTCA-JP 12 16053046 16053046 single base substitution T G intron_variant BTCA-JP 12 16053046 16053046 single base substitution T G upstream_gene_variant CESC-US 12 16052915 16052915 single base substitution G C 3_prime_UTR_variant CESC-US 12 16052915 16052915 single base substitution G C downstream_gene_variant CESC-US 12 16052915 16052915 single base substitution G C missense_variant E191Q 571G>C CESC-US 12 16052915 16052915 single base substitution G C missense_variant E285Q 853G>C CESC-US 12 16052915 16052915 single base substitution G C missense_variant E298Q 892G>C CESC-US 12 16052915 16052915 single base substitution G C missense_variant E51Q 151G>C CESC-US 12 16052915 16052915 single base substitution G C upstream_gene_variant COAD-US 12 16035690 16035690 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 12 16035690 16035690 single base substitution G A exon_variant COAD-US 12 16035690 16035690 single base substitution G A missense_variant V17M 49G>A COAD-US 12 16036524 16036524 single base substitution A C intron_variant COAD-US 12 16036524 16036524 single base substitution A C synonymous_variant T54T 162A>C COAD-US 12 16036524 16036524 single base substitution A C synonymous_variant T67T 201A>C COCA-CN 12 16036674 16036674 single base substitution A C intron_variant COCA-CN 12 16043667 16043667 single base substitution G T intron_variant COCA-CN 12 16043667 16043667 single base substitution G T upstream_gene_variant COCA-CN 12 16051024 16051024 single base substitution A T exon_variant COCA-CN 12 16051024 16051024 single base substitution A T intron_variant COCA-CN 12 16051024 16051024 single base substitution A T upstream_gene_variant COCA-CN 12 16061025 16061025 single base substitution T A downstream_gene_variant ESAD-UK 12 16030356 16030356 single base substitution T C upstream_gene_variant ESAD-UK 12 16035264 16035264 single base substitution C T upstream_gene_variant ESAD-UK 12 16035319 16035319 single base substitution T A upstream_gene_variant ESAD-UK 12 16041787 16041787 single base substitution C A intron_variant ESAD-UK 12 16046693 16046693 insertion of <=200bp - G intron_variant ESAD-UK 12 16046693 16046693 insertion of <=200bp - G upstream_gene_variant ESAD-UK 12 16046695 16046696 deletion of <=200bp TC - intron_variant ESAD-UK 12 16046695 16046696 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 12 16049095 16049095 single base substitution G A intron_variant ESAD-UK 12 16049095 16049095 single base substitution G A upstream_gene_variant ESAD-UK 12 16049168 16049168 deletion of <=200bp A - intron_variant ESAD-UK 12 16049168 16049168 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 16049473 16049473 single base substitution T C intron_variant ESAD-UK 12 16049473 16049473 single base substitution T C upstream_gene_variant ESAD-UK 12 16056422 16056422 single base substitution G T downstream_gene_variant ESAD-UK 12 16057837 16057837 single base substitution A C downstream_gene_variant ESAD-UK 12 16060083 16060083 single base substitution A G downstream_gene_variant ESCA-CN 12 16050907 16050907 single base substitution G T 3_prime_UTR_variant ESCA-CN 12 16050907 16050907 single base substitution G T exon_variant ESCA-CN 12 16050907 16050907 single base substitution G T missense_variant D10Y 28G>T ESCA-CN 12 16050907 16050907 single base substitution G T missense_variant D150Y 448G>T ESCA-CN 12 16050907 16050907 single base substitution G T missense_variant D244Y 730G>T ESCA-CN 12 16050907 16050907 single base substitution G T missense_variant D257Y 769G>T ESCA-CN 12 16050907 16050907 single base substitution G T upstream_gene_variant LGG-US 12 16036493 16036493 single base substitution G A intron_variant LGG-US 12 16036493 16036493 single base substitution G A missense_variant R44H 131G>A LGG-US 12 16036493 16036493 single base substitution G A missense_variant R57H 170G>A LGG-US 12 16050900 16050900 single base substitution C T 3_prime_UTR_variant LGG-US 12 16050900 16050900 single base substitution C T exon_variant LGG-US 12 16050900 16050900 single base substitution C T synonymous_variant G147G 441C>T LGG-US 12 16050900 16050900 single base substitution C T synonymous_variant G241G 723C>T LGG-US 12 16050900 16050900 single base substitution C T synonymous_variant G254G 762C>T LGG-US 12 16050900 16050900 single base substitution C T synonymous_variant G7G 21C>T LGG-US 12 16050900 16050900 single base substitution C T upstream_gene_variant LICA-FR 12 16038423 16038423 insertion of <=200bp - T intron_variant LIHC-US 12 16035698 16035698 deletion of <=200bp T - 5_prime_UTR_variant LIHC-US 12 16035698 16035698 deletion of <=200bp T - exon_variant LIHC-US 12 16035698 16035698 deletion of <=200bp T - frameshift_variant D19 LIHC-US 12 16053885 16053885 single base substitution A G 3_prime_UTR_variant LIHC-US 12 16053885 16053885 single base substitution A G downstream_gene_variant LIHC-US 12 16053885 16053885 single base substitution A G exon_variant LIHC-US 12 16053885 16053885 single base substitution A G intron_variant LIHC-US 12 16053885 16053885 single base substitution A G synonymous_variant E216E 648A>G LIHC-US 12 16053885 16053885 single base substitution A G synonymous_variant E310E 930A>G LIHC-US 12 16053885 16053885 single base substitution A G synonymous_variant E323E 969A>G LINC-JP 12 16055478 16055478 single base substitution T C downstream_gene_variant LINC-JP 12 16055478 16055478 single base substitution T C intron_variant LINC-JP 12 16055937 16055937 single base substitution A G 3_prime_UTR_variant LINC-JP 12 16055937 16055937 single base substitution A G downstream_gene_variant LINC-JP 12 16055937 16055937 single base substitution A G exon_variant LINC-JP 12 16056261 16056261 single base substitution C A 3_prime_UTR_variant LINC-JP 12 16056261 16056261 single base substitution C A downstream_gene_variant LINC-JP 12 16056261 16056261 single base substitution C A exon_variant LIRI-JP 12 16030774 16030774 single base substitution A G upstream_gene_variant LIRI-JP 12 16034055 16034055 single base substitution C T upstream_gene_variant LIRI-JP 12 16034499 16034499 single base substitution A G upstream_gene_variant LIRI-JP 12 16035212 16035218 deletion of <=200bp CTAGCGC - upstream_gene_variant LIRI-JP 12 16038182 16038182 single base substitution G T intron_variant LIRI-JP 12 16038936 16038936 single base substitution A G intron_variant LIRI-JP 12 16038976 16038976 single base substitution C A intron_variant LIRI-JP 12 16039931 16039931 single base substitution A C intron_variant LIRI-JP 12 16042043 16042043 single base substitution A G intron_variant LIRI-JP 12 16042325 16042325 insertion of <=200bp - GAA intron_variant LIRI-JP 12 16042333 16042333 single base substitution C G intron_variant LIRI-JP 12 16043441 16043441 single base substitution C A intron_variant LIRI-JP 12 16043441 16043441 single base substitution C A upstream_gene_variant LIRI-JP 12 16044829 16044829 single base substitution G A intron_variant LIRI-JP 12 16044829 16044829 single base substitution G A upstream_gene_variant LIRI-JP 12 16047224 16047224 single base substitution C T intron_variant LIRI-JP 12 16047224 16047224 single base substitution C T upstream_gene_variant LIRI-JP 12 16048267 16048267 single base substitution A G intron_variant LIRI-JP 12 16048267 16048267 single base substitution A G upstream_gene_variant LIRI-JP 12 16049540 16049540 single base substitution G A intron_variant LIRI-JP 12 16049540 16049540 single base substitution G A upstream_gene_variant LIRI-JP 12 16050557 16050557 single base substitution G T intron_variant LIRI-JP 12 16050557 16050557 single base substitution G T upstream_gene_variant LIRI-JP 12 16052122 16052122 single base substitution C G downstream_gene_variant LIRI-JP 12 16052122 16052122 single base substitution C G intron_variant LIRI-JP 12 16052122 16052122 single base substitution C G upstream_gene_variant LIRI-JP 12 16052189 16052189 single base substitution A C downstream_gene_variant LIRI-JP 12 16052189 16052189 single base substitution A C intron_variant LIRI-JP 12 16052189 16052189 single base substitution A C upstream_gene_variant LIRI-JP 12 16052907 16052907 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 16052907 16052907 single base substitution G T downstream_gene_variant LIRI-JP 12 16052907 16052907 single base substitution G T missense_variant S188I 563G>T LIRI-JP 12 16052907 16052907 single base substitution G T missense_variant S282I 845G>T LIRI-JP 12 16052907 16052907 single base substitution G T missense_variant S295I 884G>T LIRI-JP 12 16052907 16052907 single base substitution G T missense_variant S48I 143G>T LIRI-JP 12 16052907 16052907 single base substitution G T upstream_gene_variant LIRI-JP 12 16057158 16057158 single base substitution A G downstream_gene_variant LIRI-JP 12 16057544 16057544 single base substitution A T downstream_gene_variant LIRI-JP 12 16059016 16059016 single base substitution G A downstream_gene_variant LIRI-JP 12 16059120 16059120 single base substitution G A downstream_gene_variant LUSC-KR 12 16031835 16031835 single base substitution G C upstream_gene_variant LUSC-KR 12 16032615 16032615 single base substitution C G upstream_gene_variant LUSC-KR 12 16035619 16035619 single base substitution C G 5_prime_UTR_variant LUSC-KR 12 16047118 16047118 single base substitution G T intron_variant LUSC-KR 12 16047118 16047118 single base substitution G T upstream_gene_variant LUSC-KR 12 16054586 16054586 single base substitution G T downstream_gene_variant LUSC-KR 12 16054586 16054586 single base substitution G T intron_variant LUSC-KR 12 16057266 16057266 single base substitution G T downstream_gene_variant LUSC-KR 12 16058158 16058158 single base substitution G T downstream_gene_variant LUSC-US 12 16043599 16043599 single base substitution A C 3_prime_UTR_variant LUSC-US 12 16043599 16043599 single base substitution A C missense_variant E133D 399A>C LUSC-US 12 16043599 16043599 single base substitution A C missense_variant E146D 438A>C LUSC-US 12 16043599 16043599 single base substitution A C missense_variant E39D 117A>C LUSC-US 12 16043599 16043599 single base substitution A C upstream_gene_variant LUSC-US 12 16047010 16047010 single base substitution G T 3_prime_UTR_variant LUSC-US 12 16047010 16047010 single base substitution G T missense_variant G145C 433G>T LUSC-US 12 16047010 16047010 single base substitution G T missense_variant G158C 472G>T LUSC-US 12 16047010 16047010 single base substitution G T missense_variant G51C 151G>T LUSC-US 12 16047010 16047010 single base substitution G T upstream_gene_variant LUSC-US 12 16048369 16048369 single base substitution C T 3_prime_UTR_variant LUSC-US 12 16048369 16048369 single base substitution C T missense_variant P193S 577C>T LUSC-US 12 16048369 16048369 single base substitution C T missense_variant P206S 616C>T LUSC-US 12 16048369 16048369 single base substitution C T missense_variant P99S 295C>T LUSC-US 12 16048369 16048369 single base substitution C T upstream_gene_variant LUSC-US 12 16052959 16052959 single base substitution G C 3_prime_UTR_variant LUSC-US 12 16052959 16052959 single base substitution G C downstream_gene_variant LUSC-US 12 16052959 16052959 single base substitution G C synonymous_variant T205T 615G>C LUSC-US 12 16052959 16052959 single base substitution G C synonymous_variant T299T 897G>C LUSC-US 12 16052959 16052959 single base substitution G C synonymous_variant T312T 936G>C LUSC-US 12 16052959 16052959 single base substitution G C synonymous_variant T65T 195G>C LUSC-US 12 16052959 16052959 single base substitution G C upstream_gene_variant MALY-DE 12 16043276 16043276 single base substitution G C intron_variant MALY-DE 12 16045758 16045758 single base substitution G A intron_variant MALY-DE 12 16045758 16045758 single base substitution G A upstream_gene_variant MALY-DE 12 16047240 16047240 single base substitution A C intron_variant MALY-DE 12 16047240 16047240 single base substitution A C upstream_gene_variant MALY-DE 12 16050065 16050065 single base substitution T A intron_variant MALY-DE 12 16050065 16050065 single base substitution T A upstream_gene_variant MALY-DE 12 16056500 16056500 single base substitution C T downstream_gene_variant MALY-DE 12 16058826 16058826 single base substitution A G downstream_gene_variant MALY-DE 12 16059493 16059493 single base substitution C T downstream_gene_variant MELA-AU 12 16031126 16031126 single base substitution C T upstream_gene_variant MELA-AU 12 16031355 16031355 single base substitution C T upstream_gene_variant MELA-AU 12 16031463 16031463 single base substitution G A upstream_gene_variant MELA-AU 12 16031580 16031580 single base substitution T A upstream_gene_variant MELA-AU 12 16031601 16031601 single base substitution T A upstream_gene_variant MELA-AU 12 16031614 16031614 single base substitution A C upstream_gene_variant MELA-AU 12 16031857 16031857 single base substitution C T upstream_gene_variant MELA-AU 12 16031904 16031904 single base substitution C T upstream_gene_variant MELA-AU 12 16031987 16031987 single base substitution C T upstream_gene_variant MELA-AU 12 16032119 16032119 single base substitution C T upstream_gene_variant MELA-AU 12 16032460 16032460 single base substitution C T upstream_gene_variant MELA-AU 12 16033974 16033974 single base substitution G A upstream_gene_variant MELA-AU 12 16034634 16034634 single base substitution G A upstream_gene_variant MELA-AU 12 16034637 16034637 single base substitution A T upstream_gene_variant MELA-AU 12 16035015 16035015 single base substitution C T upstream_gene_variant MELA-AU 12 16035280 16035280 single base substitution C T upstream_gene_variant MELA-AU 12 16035281 16035281 single base substitution C T upstream_gene_variant MELA-AU 12 16035297 16035297 single base substitution C T upstream_gene_variant MELA-AU 12 16036268 16036268 single base substitution A G intron_variant MELA-AU 12 16036307 16036307 single base substitution T G intron_variant MELA-AU 12 16038215 16038215 single base substitution C T intron_variant MELA-AU 12 16038764 16038764 single base substitution T C intron_variant MELA-AU 12 16039471 16039471 single base substitution C T intron_variant MELA-AU 12 16039857 16039858 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 16040093 16040094 deletion of <=200bp TT - intron_variant MELA-AU 12 16040893 16040893 single base substitution A T intron_variant MELA-AU 12 16041860 16041860 single base substitution C T intron_variant MELA-AU 12 16042057 16042057 deletion of <=200bp C - intron_variant MELA-AU 12 16042343 16042343 single base substitution C T intron_variant MELA-AU 12 16043259 16043259 single base substitution T C intron_variant MELA-AU 12 16043661 16043661 single base substitution A T intron_variant MELA-AU 12 16043661 16043661 single base substitution A T upstream_gene_variant MELA-AU 12 16043921 16043921 single base substitution G A intron_variant MELA-AU 12 16043921 16043921 single base substitution G A upstream_gene_variant MELA-AU 12 16044447 16044447 single base substitution C T intron_variant MELA-AU 12 16044447 16044447 single base substitution C T upstream_gene_variant MELA-AU 12 16045093 16045093 single base substitution C T intron_variant MELA-AU 12 16045093 16045093 single base substitution C T upstream_gene_variant MELA-AU 12 16045104 16045104 single base substitution G T intron_variant MELA-AU 12 16045104 16045104 single base substitution G T upstream_gene_variant MELA-AU 12 16045677 16045677 single base substitution T G intron_variant MELA-AU 12 16045677 16045677 single base substitution T G upstream_gene_variant MELA-AU 12 16046092 16046092 single base substitution C T intron_variant MELA-AU 12 16046092 16046092 single base substitution C T upstream_gene_variant MELA-AU 12 16047347 16047347 single base substitution C T intron_variant MELA-AU 12 16047347 16047347 single base substitution C T upstream_gene_variant MELA-AU 12 16049487 16049487 single base substitution T C intron_variant MELA-AU 12 16049487 16049487 single base substitution T C upstream_gene_variant MELA-AU 12 16049992 16049992 single base substitution C T intron_variant MELA-AU 12 16049992 16049992 single base substitution C T upstream_gene_variant MELA-AU 12 16050170 16050170 single base substitution C T intron_variant MELA-AU 12 16050170 16050170 single base substitution C T upstream_gene_variant MELA-AU 12 16051145 16051145 single base substitution C T exon_variant MELA-AU 12 16051145 16051145 single base substitution C T intron_variant MELA-AU 12 16051145 16051145 single base substitution C T upstream_gene_variant MELA-AU 12 16051483 16051483 single base substitution T A downstream_gene_variant MELA-AU 12 16051483 16051483 single base substitution T A intron_variant MELA-AU 12 16051483 16051483 single base substitution T A upstream_gene_variant MELA-AU 12 16051485 16051485 single base substitution A C downstream_gene_variant MELA-AU 12 16051485 16051485 single base substitution A C intron_variant MELA-AU 12 16051485 16051485 single base substitution A C upstream_gene_variant MELA-AU 12 16051890 16051890 single base substitution T C downstream_gene_variant MELA-AU 12 16051890 16051890 single base substitution T C intron_variant MELA-AU 12 16051890 16051890 single base substitution T C upstream_gene_variant MELA-AU 12 16052308 16052308 single base substitution C T downstream_gene_variant MELA-AU 12 16052308 16052308 single base substitution C T intron_variant MELA-AU 12 16052308 16052308 single base substitution C T upstream_gene_variant MELA-AU 12 16052418 16052418 single base substitution C T downstream_gene_variant MELA-AU 12 16052418 16052418 single base substitution C T intron_variant MELA-AU 12 16052418 16052418 single base substitution C T upstream_gene_variant MELA-AU 12 16052419 16052419 single base substitution C T downstream_gene_variant MELA-AU 12 16052419 16052419 single base substitution C T intron_variant MELA-AU 12 16052419 16052419 single base substitution C T upstream_gene_variant MELA-AU 12 16052743 16052743 single base substitution C T downstream_gene_variant MELA-AU 12 16052743 16052743 single base substitution C T intron_variant MELA-AU 12 16052743 16052743 single base substitution C T upstream_gene_variant MELA-AU 12 16052848 16052848 single base substitution G A 3_prime_UTR_variant MELA-AU 12 16052848 16052848 single base substitution G A downstream_gene_variant MELA-AU 12 16052848 16052848 single base substitution G A synonymous_variant K168K 504G>A MELA-AU 12 16052848 16052848 single base substitution G A synonymous_variant K262K 786G>A MELA-AU 12 16052848 16052848 single base substitution G A synonymous_variant K275K 825G>A MELA-AU 12 16052848 16052848 single base substitution G A synonymous_variant K28K 84G>A MELA-AU 12 16052848 16052848 single base substitution G A upstream_gene_variant MELA-AU 12 16052850 16052850 single base substitution G A 3_prime_UTR_variant MELA-AU 12 16052850 16052850 single base substitution G A downstream_gene_variant MELA-AU 12 16052850 16052850 single base substitution G A missense_variant G169E 506G>A MELA-AU 12 16052850 16052850 single base substitution G A missense_variant G263E 788G>A MELA-AU 12 16052850 16052850 single base substitution G A missense_variant G276E 827G>A MELA-AU 12 16052850 16052850 single base substitution G A missense_variant G29E 86G>A MELA-AU 12 16052850 16052850 single base substitution G A upstream_gene_variant MELA-AU 12 16052862 16052862 single base substitution C T 3_prime_UTR_variant MELA-AU 12 16052862 16052862 single base substitution C T downstream_gene_variant MELA-AU 12 16052862 16052862 single base substitution C T missense_variant P173L 518C>T MELA-AU 12 16052862 16052862 single base substitution C T missense_variant P267L 800C>T MELA-AU 12 16052862 16052862 single base substitution C T missense_variant P280L 839C>T MELA-AU 12 16052862 16052862 single base substitution C T missense_variant P33L 98C>T MELA-AU 12 16052862 16052862 single base substitution C T upstream_gene_variant MELA-AU 12 16052899 16052899 single base substitution C T 3_prime_UTR_variant MELA-AU 12 16052899 16052899 single base substitution C T downstream_gene_variant MELA-AU 12 16052899 16052899 single base substitution C T synonymous_variant L185L 555C>T MELA-AU 12 16052899 16052899 single base substitution C T synonymous_variant L279L 837C>T MELA-AU 12 16052899 16052899 single base substitution C T synonymous_variant L292L 876C>T MELA-AU 12 16052899 16052899 single base substitution C T synonymous_variant L45L 135C>T MELA-AU 12 16052899 16052899 single base substitution C T upstream_gene_variant MELA-AU 12 16053446 16053446 single base substitution C T downstream_gene_variant MELA-AU 12 16053446 16053446 single base substitution C T intron_variant MELA-AU 12 16053446 16053446 single base substitution C T upstream_gene_variant MELA-AU 12 16054391 16054391 single base substitution C T downstream_gene_variant MELA-AU 12 16054391 16054391 single base substitution C T intron_variant MELA-AU 12 16055356 16055356 single base substitution G A downstream_gene_variant MELA-AU 12 16055356 16055356 single base substitution G A intron_variant MELA-AU 12 16055676 16055676 single base substitution A G downstream_gene_variant MELA-AU 12 16055676 16055676 single base substitution A G intron_variant MELA-AU 12 16056145 16056145 single base substitution A C 3_prime_UTR_variant MELA-AU 12 16056145 16056145 single base substitution A C downstream_gene_variant MELA-AU 12 16056145 16056145 single base substitution A C exon_variant MELA-AU 12 16056588 16056588 single base substitution C T downstream_gene_variant MELA-AU 12 16056588 16056589 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 16058426 16058426 single base substitution C T downstream_gene_variant MELA-AU 12 16058738 16058738 single base substitution C T downstream_gene_variant MELA-AU 12 16058966 16058966 single base substitution C A downstream_gene_variant MELA-AU 12 16058972 16058972 single base substitution C T downstream_gene_variant MELA-AU 12 16058973 16058973 single base substitution C T downstream_gene_variant MELA-AU 12 16059112 16059112 single base substitution C T downstream_gene_variant MELA-AU 12 16059161 16059161 single base substitution C T downstream_gene_variant MELA-AU 12 16059363 16059363 single base substitution C T downstream_gene_variant MELA-AU 12 16059783 16059783 single base substitution C T downstream_gene_variant MELA-AU 12 16059961 16059961 single base substitution C T downstream_gene_variant MELA-AU 12 16060062 16060062 single base substitution A G downstream_gene_variant MELA-AU 12 16060187 16060187 single base substitution G A downstream_gene_variant MELA-AU 12 16060769 16060769 single base substitution C T downstream_gene_variant ORCA-IN 12 16030419 16030419 single base substitution A T upstream_gene_variant OV-AU 12 16031476 16031476 single base substitution C A upstream_gene_variant OV-AU 12 16034490 16034490 single base substitution A T upstream_gene_variant OV-AU 12 16035308 16035308 single base substitution T C upstream_gene_variant OV-AU 12 16042645 16042645 single base substitution A T intron_variant OV-AU 12 16046351 16046351 single base substitution T G intron_variant OV-AU 12 16046351 16046351 single base substitution T G upstream_gene_variant OV-AU 12 16048606 16048606 single base substitution G T intron_variant OV-AU 12 16048606 16048606 single base substitution G T upstream_gene_variant OV-AU 12 16049116 16049116 single base substitution T C intron_variant OV-AU 12 16049116 16049116 single base substitution T C upstream_gene_variant OV-AU 12 16054458 16054458 single base substitution C T downstream_gene_variant OV-AU 12 16054458 16054458 single base substitution C T intron_variant OV-AU 12 16060596 16060596 single base substitution G A downstream_gene_variant PACA-AU 12 16032866 16032866 deletion of <=200bp A - upstream_gene_variant PACA-AU 12 16033103 16033103 single base substitution T A upstream_gene_variant PACA-AU 12 16033546 16033546 single base substitution C G upstream_gene_variant PACA-AU 12 16047937 16047937 single base substitution C A intron_variant PACA-AU 12 16047937 16047937 single base substitution C A upstream_gene_variant PACA-AU 12 16050157 16050157 single base substitution A C intron_variant PACA-AU 12 16050157 16050157 single base substitution A C upstream_gene_variant PACA-CA 12 16032782 16032782 insertion of <=200bp - AAC upstream_gene_variant PACA-CA 12 16040378 16040378 single base substitution C G intron_variant PACA-CA 12 16044676 16044676 single base substitution A G intron_variant PACA-CA 12 16044676 16044676 single base substitution A G upstream_gene_variant PACA-CA 12 16044890 16044890 single base substitution A T intron_variant PACA-CA 12 16044890 16044890 single base substitution A T upstream_gene_variant PBCA-DE 12 16031451 16031451 single base substitution G A upstream_gene_variant PBCA-DE 12 16045391 16045415 deletion of <=200bp ATAATTTTGTTTTATTATATATTTG - intron_variant PBCA-DE 12 16045391 16045415 deletion of <=200bp ATAATTTTGTTTTATTATATATTTG - upstream_gene_variant PBCA-DE 12 16058720 16058720 single base substitution C T downstream_gene_variant PRAD-CA 12 16051727 16051727 single base substitution T C downstream_gene_variant PRAD-CA 12 16051727 16051727 single base substitution T C intron_variant PRAD-CA 12 16051727 16051727 single base substitution T C upstream_gene_variant PRAD-CA 12 16055206 16055206 single base substitution T A downstream_gene_variant PRAD-CA 12 16055206 16055206 single base substitution T A intron_variant PRAD-UK 12 16037165 16037165 single base substitution C G intron_variant PRAD-UK 12 16041460 16041460 single base substitution G T intron_variant PRAD-UK 12 16048223 16048223 single base substitution A C intron_variant PRAD-UK 12 16048223 16048223 single base substitution A C upstream_gene_variant PRAD-UK 12 16061072 16061072 single base substitution T C downstream_gene_variant RECA-EU 12 16031633 16031633 single base substitution C A upstream_gene_variant RECA-EU 12 16038593 16038593 single base substitution T G intron_variant RECA-EU 12 16041199 16041199 single base substitution A T intron_variant RECA-EU 12 16052214 16052214 single base substitution A G downstream_gene_variant RECA-EU 12 16052214 16052214 single base substitution A G intron_variant RECA-EU 12 16052214 16052214 single base substitution A G upstream_gene_variant RECA-EU 12 16052465 16052465 single base substitution A C downstream_gene_variant RECA-EU 12 16052465 16052465 single base substitution A C intron_variant RECA-EU 12 16052465 16052465 single base substitution A C upstream_gene_variant SKCA-BR 12 16031462 16031462 single base substitution G A upstream_gene_variant SKCA-BR 12 16031588 16031588 single base substitution G A upstream_gene_variant SKCA-BR 12 16033015 16033015 single base substitution G A upstream_gene_variant SKCA-BR 12 16034014 16034014 single base substitution G A upstream_gene_variant SKCA-BR 12 16035494 16035494 single base substitution C T 5_prime_UTR_variant SKCA-BR 12 16036020 16036020 single base substitution C T intron_variant SKCA-BR 12 16036020 16036020 single base substitution C T missense_variant A39V 116C>T SKCA-BR 12 16037903 16037903 single base substitution G A intron_variant SKCA-BR 12 16051311 16051311 single base substitution G A downstream_gene_variant SKCA-BR 12 16051311 16051311 single base substitution G A intron_variant SKCA-BR 12 16051311 16051311 single base substitution G A upstream_gene_variant SKCA-BR 12 16052433 16052433 single base substitution C T downstream_gene_variant SKCA-BR 12 16052433 16052433 single base substitution C T intron_variant SKCA-BR 12 16052433 16052433 single base substitution C T upstream_gene_variant SKCA-BR 12 16053532 16053532 single base substitution A G downstream_gene_variant SKCA-BR 12 16053532 16053532 single base substitution A G intron_variant SKCA-BR 12 16053532 16053532 single base substitution A G upstream_gene_variant SKCA-BR 12 16055761 16055761 single base substitution C T downstream_gene_variant SKCA-BR 12 16055761 16055761 single base substitution C T intron_variant SKCA-BR 12 16057195 16057195 single base substitution C T downstream_gene_variant SKCA-BR 12 16057731 16057731 single base substitution C T downstream_gene_variant SKCA-BR 12 16059448 16059448 single base substitution C T downstream_gene_variant SKCM-US 12 16036573 16036573 single base substitution G A intron_variant SKCM-US 12 16036573 16036573 single base substitution G A missense_variant A71T 211G>A SKCM-US 12 16036573 16036573 single base substitution G A missense_variant A84T 250G>A SKCM-US 12 16050834 16050834 single base substitution C T 3_prime_UTR_variant SKCM-US 12 16050834 16050834 single base substitution C T exon_variant SKCM-US 12 16050834 16050834 single base substitution C T synonymous_variant S125S 375C>T SKCM-US 12 16050834 16050834 single base substitution C T synonymous_variant S219S 657C>T SKCM-US 12 16050834 16050834 single base substitution C T synonymous_variant S232S 696C>T SKCM-US 12 16050834 16050834 single base substitution C T upstream_gene_variant SKCM-US 12 16050871 16050871 single base substitution C T 3_prime_UTR_variant SKCM-US 12 16050871 16050871 single base substitution C T exon_variant SKCM-US 12 16050871 16050871 single base substitution C T missense_variant H138Y 412C>T SKCM-US 12 16050871 16050871 single base substitution C T missense_variant H232Y 694C>T SKCM-US 12 16050871 16050871 single base substitution C T missense_variant H245Y 733C>T SKCM-US 12 16050871 16050871 single base substitution C T upstream_gene_variant SKCM-US 12 16052848 16052848 single base substitution G A 3_prime_UTR_variant SKCM-US 12 16052848 16052848 single base substitution G A downstream_gene_variant SKCM-US 12 16052848 16052848 single base substitution G A synonymous_variant K168K 504G>A SKCM-US 12 16052848 16052848 single base substitution G A synonymous_variant K262K 786G>A SKCM-US 12 16052848 16052848 single base substitution G A synonymous_variant K275K 825G>A SKCM-US 12 16052848 16052848 single base substitution G A synonymous_variant K28K 84G>A SKCM-US 12 16052848 16052848 single base substitution G A upstream_gene_variant STAD-US 12 16035702 16035702 single base substitution G A 5_prime_UTR_variant STAD-US 12 16035702 16035702 single base substitution G A exon_variant STAD-US 12 16035702 16035702 single base substitution G A missense_variant A21T 61G>A STAD-US 12 16042873 16042873 single base substitution A G 5_prime_UTR_variant STAD-US 12 16042873 16042873 single base substitution A G exon_variant STAD-US 12 16042873 16042873 single base substitution A G missense_variant D100G 299A>G STAD-US 12 16042873 16042873 single base substitution A G missense_variant D87G 260A>G STAD-US 12 16055855 16055855 single base substitution A C 3_prime_UTR_variant STAD-US 12 16055855 16055855 single base substitution A C downstream_gene_variant STAD-US 12 16055855 16055855 single base substitution A C exon_variant STAD-US 12 16055855 16055855 single base substitution A C missense_variant E238D 714A>C STAD-US 12 16055855 16055855 single base substitution A C missense_variant E332D 996A>C STAD-US 12 16055855 16055855 single base substitution A C missense_variant E345D 1035A>C STAD-US 12 16055855 16055855 single base substitution A C missense_variant E76D 228A>C UCEC-US 12 16036510 16036510 single base substitution G T intron_variant UCEC-US 12 16036510 16036510 single base substitution G T missense_variant D50Y 148G>T UCEC-US 12 16036510 16036510 single base substitution G T missense_variant D63Y 187G>T UCEC-US 12 16047036 16047036 single base substitution T C 3_prime_UTR_variant UCEC-US 12 16047036 16047036 single base substitution T C synonymous_variant S153S 459T>C UCEC-US 12 16047036 16047036 single base substitution T C synonymous_variant S166S 498T>C UCEC-US 12 16047036 16047036 single base substitution T C synonymous_variant S59S 177T>C UCEC-US 12 16047036 16047036 single base substitution T C upstream_gene_variant UCEC-US 12 16048318 16048318 single base substitution G T 3_prime_UTR_variant UCEC-US 12 16048318 16048318 single base substitution G T stop_gained E176* 526G>T UCEC-US 12 16048318 16048318 single base substitution G T stop_gained E189* 565G>T UCEC-US 12 16048318 16048318 single base substitution G T stop_gained E82* 244G>T UCEC-US 12 16048318 16048318 single base substitution G T upstream_gene_variant UCEC-US 12 16050927 16050927 single base substitution T C 3_prime_UTR_variant UCEC-US 12 16050927 16050927 single base substitution T C exon_variant UCEC-US 12 16050927 16050927 single base substitution T C synonymous_variant Y156Y 468T>C UCEC-US 12 16050927 16050927 single base substitution T C synonymous_variant Y16Y 48T>C UCEC-US 12 16050927 16050927 single base substitution T C synonymous_variant Y250Y 750T>C UCEC-US 12 16050927 16050927 single base substitution T C synonymous_variant Y263Y 789T>C UCEC-US 12 16050927 16050927 single base substitution T C upstream_gene_variant UCEC-US 12 16052859 16052859 single base substitution G A 3_prime_UTR_variant UCEC-US 12 16052859 16052859 single base substitution G A downstream_gene_variant UCEC-US 12 16052859 16052859 single base substitution G A missense_variant G172D 515G>A UCEC-US 12 16052859 16052859 single base substitution G A missense_variant G266D 797G>A UCEC-US 12 16052859 16052859 single base substitution G A missense_variant G279D 836G>A UCEC-US 12 16052859 16052859 single base substitution G A missense_variant G32D 95G>A UCEC-US 12 16052859 16052859 single base substitution G A upstream_gene_variant UCEC-US 12 16052953 16052953 single base substitution A T 3_prime_UTR_variant UCEC-US 12 16052953 16052953 single base substitution A T downstream_gene_variant UCEC-US 12 16052953 16052953 single base substitution A T synonymous_variant G203G 609A>T UCEC-US 12 16052953 16052953 single base substitution A T synonymous_variant G297G 891A>T UCEC-US 12 16052953 16052953 single base substitution A T synonymous_variant G310G 930A>T UCEC-US 12 16052953 16052953 single base substitution A T synonymous_variant G63G 189A>T UCEC-US 12 16052953 16052953 single base substitution A T upstream_gene_variant UCEC-US 12 16055867 16055867 single base substitution G T 3_prime_UTR_variant UCEC-US 12 16055867 16055867 single base substitution G T downstream_gene_variant UCEC-US 12 16055867 16055867 single base substitution G T exon_variant UCEC-US 12 16055867 16055867 single base substitution G T missense_variant E242D 726G>T UCEC-US 12 16055867 16055867 single base substitution G T missense_variant E336D 1008G>T UCEC-US 12 16055867 16055867 single base substitution G T missense_variant E349D 1047G>T UCEC-US 12 16055867 16055867 single base substitution G T missense_variant E80D 240G>T UCEC-US 12 16055879 16055879 single base substitution C T 3_prime_UTR_variant UCEC-US 12 16055879 16055879 single base substitution C T downstream_gene_variant UCEC-US 12 16055879 16055879 single base substitution C T exon_variant UCEC-US 12 16055879 16055879 single base substitution C T synonymous_variant C246C 738C>T UCEC-US 12 16055879 16055879 single base substitution C T synonymous_variant C340C 1020C>T UCEC-US 12 16055879 16055879 single base substitution C T synonymous_variant C353C 1059C>T UCEC-US 12 16055879 16055879 single base substitution C T synonymous_variant C84C 252C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3503 COSM4730671 c.897G>A p.T299T Substitution - coding silent 12:15900025-15900025 + WSU-HN6 COSM4593771 c.1001C>T p.A334V Substitution - Missense 12:15902926-15902926 + TCGA-ER-A19E-06 COSM3458678 c.657C>T p.S219S Substitution - coding silent 12:15897900-15897900 + TCGA-BR-6452-01 COSM4040618 c.61G>A p.A21T Substitution - Missense 12:15882768-15882768 + TCGA-37-3783-01 COSM692996 c.399A>C p.E133D Substitution - Missense 12:15890665-15890665 + TCGA-HT-A5R5-01 COSM3968125 c.723C>T p.G241G Substitution - coding silent 12:15897966-15897966 + TCGA-AC-A2QH-01 COSM3811598 c.657C>A p.S219S Substitution - coding silent 12:15897900-15897900 + TCGA-AD-6895-01 COSM5130225 c.130C>T p.R44C Substitution - Missense 12:15883558-15883558 + LUAD_E01047 COSM390050 c.568G>T p.E190* Substitution - Nonsense 12:15895426-15895426 + 2250207 COSM5029924 c.342T>C p.Y114Y Substitution - coding silent 12:15890608-15890608 + TCGA-18-3409-01 COSM692994 c.577C>T p.P193S Substitution - Missense 12:15895435-15895435 + TCGA-BG-A187-01 COSM937640 c.896C>T p.T299M Substitution - Missense 12:15900024-15900024 + SW48 COSM2003350 c.458G>A p.S153N Substitution - Missense 12:15894101-15894101 + WSU-HN30 COSM4593771 c.1001C>T p.A334V Substitution - Missense 12:15902926-15902926 + RK152_C01 COSM3700250 c.845G>T p.S282I Substitution - Missense 12:15899973-15899973 + TCGA-E6-A1LZ-01 COSM937633 c.448C>G p.L150V Substitution - Missense 12:15894091-15894091 + TCGA-FD-A3SP-01 COSM3792400 c.856G>A p.D286N Substitution - Missense 12:15899984-15899984 + 66 COSM937640 c.896C>T p.T299M Substitution - Missense 12:15900024-15900024 + TCGA-AP-A0LE-01 COSM937639 c.891A>T p.G297G Substitution - coding silent 12:15900019-15900019 + TCGA-BR-8589-01 COSM4040620 c.996A>C p.E332D Substitution - Missense 12:15902921-15902921 + T3204 COSM4730669 c.178G>A p.G60S Substitution - Missense 12:15883606-15883606 + TCGA-AP-A059-01 COSM937642 c.1020C>T p.C340C Substitution - coding silent 12:15902945-15902945 + UM-SCC-17B COSM4593771 c.1001C>T p.A334V Substitution - Missense 12:15902926-15902926 + TCGA-18-3416-01 COSM692995 c.433G>T p.G145C Substitution - Missense 12:15894076-15894076 + 11M COSM5577096 c.724G>A p.G242S Substitution - Missense 12:15897967-15897967 + TCGA-EE-A180-06 COSM3458679 c.694C>T p.H232Y Substitution - Missense 12:15897937-15897937 + C086 COSM5539842 c.780C>T p.S260S Substitution - coding silent 12:15899908-15899908 + CAL27 COSM4593771 c.1001C>T p.A334V Substitution - Missense 12:15902926-15902926 + T3064 COSM4730668 c.156T>C p.I52I Substitution - coding silent 12:15883584-15883584 + TCGA-18-3419-01 COSM692993 c.897G>C p.T299T Substitution - coding silent 12:15900025-15900025 + TCGA-IR-A3LK-01 COSM4817628 c.853G>C p.E285Q Substitution - Missense 12:15899981-15899981 + TCGA-BH-A18V-01 COSM430833 c.996A>T p.E332D Substitution - Missense 12:15902921-15902921 + LUAD-CHTN-MAD06-00668 COSM358664 c.499C>T p.R167* Substitution - Nonsense 12:15894142-15894142 + TCGA-AZ-6599-01 COSM1360455 c.49G>A p.V17M Substitution - Missense 12:15882756-15882756 + UM-SCC-17B COSM4599053 c.1033G>T p.A345S Substitution - Missense 12:15902958-15902958 + TCGA-CM-5861-01 COSM1360458 c.438delA p.A149fs*26 Deletion - Frameshift 12:15894081-15894081 + TCGA-D1-A103-01 COSM937641 c.1008G>T p.E336D Substitution - Missense 12:15902933-15902933 + TCGA-AN-A046-01 COSM3811597 c.198A>G p.T66T Substitution - coding silent 12:15883626-15883626 + TCGA-BS-A0UJ-01 COSM937634 c.459T>C p.S153S Substitution - coding silent 12:15894102-15894102 + TCGA-B5-A11E-01 COSM937637 c.750T>C p.Y250Y Substitution - coding silent 12:15897993-15897993 + TCGA-G3-A25V-01 COSM4914567 c.930A>G p.E310E Substitution - coding silent 12:15900951-15900951 + TCGA-61-1907-01 COSM1322623 c.330+2delT p.? Unknown 12:15890011-15890011 + T3535 COSM4730670 c.327G>A p.T109T Substitution - coding silent 12:15890006-15890006 + WSU-HN12 COSM4593771 c.1001C>T p.A334V Substitution - Missense 12:15902926-15902926 + TCGA-DM-A1HB-01 COSM1360458 c.438delA p.A149fs*26 Deletion - Frameshift 12:15894081-15894081 + TCGA-AA-3542-01 COSM292099 c.224C>A p.A75D Substitution - Missense 12:15883652-15883652 + TCGA-D1-A17F-01 COSM937636 c.699T>G p.P233P Substitution - coding silent 12:15897942-15897942 + TCGA-BS-A0UF-01 COSM937635 c.526G>T p.E176* Substitution - Nonsense 12:15895384-15895384 + TCGA-EE-A29A-06 COSM3458677 c.211G>A p.A71T Substitution - Missense 12:15883639-15883639 + TCGA-AZ-4315-01 COSM1360456 c.162A>C p.T54T Substitution - coding silent 12:15883590-15883590 + LUAD-FH5PJ COSM394406 c.330+2T>C p.? Unknown 12:15890011-15890011 + TCGA-D1-A17Q-01 COSM937632 c.148G>T p.D50Y Substitution - Missense 12:15883576-15883576 + TCGA-AA-3715-01 COSM1360458 c.438delA p.A149fs*26 Deletion - Frameshift 12:15894081-15894081 + TCGA-B0-4700-01 COSM468097 c.803T>C p.I268T Substitution - Missense 12:15899931-15899931 + CLL109 COSM1289715 c.122C>G p.P41R Substitution - Missense 12:15883550-15883550 + 587376 COSM1227926 c.706G>T p.E236* Substitution - Nonsense 12:15897949-15897949 + TCGA-EE-A20C-06 COSM3458680 c.786G>A p.K262K Substitution - coding silent 12:15899914-15899914 + TCGA-HT-7677-01 COSM3968124 c.131G>A p.R44H Substitution - Missense 12:15883559-15883559 + TCGA-GV-A3QI-01 COSM1299194 c.208G>T p.D70Y Substitution - Missense 12:15883636-15883636 + LC_C15 COSM1188443 c.67A>G p.S23G Substitution - Missense 12:15882774-15882774 + ESCC_127 COSM5641448 c.124A>T p.M42L Substitution - Missense 12:15883552-15883552 + TCGA-D1-A103-01 COSM937638 c.797G>A p.G266D Substitution - Missense 12:15899925-15899925 + ESCC-178T COSM3935852 c.730G>T p.D244Y Substitution - Missense 12:15897973-15897973 + TCGA-G4-6304-01 COSM1360459 c.726T>C p.G242G Substitution - coding silent 12:15897969-15897969 + UM-SCC-47 COSM4593771 c.1001C>T p.A334V Substitution - Missense 12:15902926-15902926 + 24T COSM107813 c.345G>T p.L115F Substitution - Missense 12:15890611-15890611 + PD18247a COSM5793765 c.1039G>C p.D347H Substitution - Missense 12:15902964-15902964 + TCGA-HU-A4H8-01 COSM4040619 c.260A>G p.D87G Substitution - Missense 12:15889939-15889939 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.504895 12p12.3 605986 2427449|CGAP|BC000162|C/G|non-coding||1610|Candidate; 2427449|CGAP|BC062306|C/G|non-coding||1774|Candidate; 2427450|CGAP|BC000162|A/G|non-coding||1315|Candidate; 2427450|CGAP|BC062306|A/G|non-coding||1479|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E133D c.399A>C 12 16043599 LUSC A T Missense p.E332D c.996A>T 12 16055855 BRCA A T Synonymous p.G297G c.891A>T 12 16052953 UCEC C A Missense p.A75D c.224C>A 12 16036586 COREAD C G Missense p.P41R c.122C>G 12 16036484 CLL C T Missense p.H232Y c.694C>T 12 16050871 CM C T Missense p.R125C c.373C>T 12 16043573 LUAD C T Synonymous p.S219S c.657C>T 12 16050834 CM G A Missense p.A71T c.211G>A 12 16036573 CM G A Missense p.R44H c.131G>A 12 16036493 LGG G A Synonymous p.K262K c.786G>A 12 16052848 CM G C Missense p.D276H c.826G>C 12 16052888 HNSC G C Synonymous p.T299T c.897G>C 12 16052959 LUSC G T Missense p.D70Y c.208G>T 12 16036570 BLCA G T Missense p.G145C c.433G>T 12 16047010 LUSC