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 9 139837138 139837138 + Missense_Mutation SNP G G A TCGA-OR-A5L3-01A-11D-A29I-10 TCGA-OR-A5L3-10A-01D-A29L-10 g.chr9:139837138G>A c.536C>T c.(535-537)gCg>gTg p.A179V BLCA 9 139836000 139836000 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 g.chr9:139836000C>T c.1233G>A c.(1231-1233)tcG>tcA p.S411S BLCA 9 139836093 139836093 + Silent SNP G G A TCGA-FJ-A3Z9-01A-11D-A26M-08 TCGA-FJ-A3Z9-10A-01D-A26K-08 g.chr9:139836093G>A c.1140C>T c.(1138-1140)ccC>ccT p.P380P BLCA 9 139836610 139836610 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr9:139836610G>A c.984C>T c.(982-984)gcC>gcT p.A328A BLCA 9 139836636 139836636 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr9:139836636C>G c.958G>C c.(958-960)Gag>Cag p.E320Q BLCA 9 139837027 139837027 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr9:139837027G>A c.647C>T c.(646-648)tCg>tTg p.S216L CESC 9 139835782 139835782 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr9:139835782G>C c.1378C>G c.(1378-1380)Ctg>Gtg p.L460V CESC 9 139836132 139836132 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr9:139836132G>C c.1101C>G c.(1099-1101)atC>atG p.I367M CESC 9 139838386 139838386 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr9:139838386G>A c.150C>T c.(148-150)ttC>ttT p.F50F COAD 9 139835461 139835461 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr9:139835461G>A c.1620C>T c.(1618-1620)tcC>tcT p.S540S COAD 9 139836527 139836527 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr9:139836527C>T c.1067G>A c.(1066-1068)gGc>gAc p.G356D COAD 9 139836573 139836573 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr9:139836573G>A c.1021C>T c.(1021-1023)Cgc>Tgc p.R341C COAD 9 139836692 139836692 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr9:139836692C>T c.902G>A c.(901-903)gGc>gAc p.G301D COAD 9 139837052 139837052 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr9:139837052G>A c.622C>T c.(622-624)Cgc>Tgc p.R208C COAD 9 139837324 139837324 + Silent SNP G G T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr9:139837324G>T c.423C>A c.(421-423)acC>acA p.T141T COAD 9 139837356 139837356 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr9:139837356C>T c.391G>A c.(391-393)Gcg>Acg p.A131T COAD 9 139838522 139838522 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr9:139838522C>T c.14G>A c.(13-15)gGc>gAc p.G5D COADREAD 9 139835461 139835461 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr9:139835461G>A c.1620C>T c.(1618-1620)tcC>tcT p.S540S COADREAD 9 139836527 139836527 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr9:139836527C>T c.1067G>A c.(1066-1068)gGc>gAc p.G356D COADREAD 9 139836573 139836573 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr9:139836573G>A c.1021C>T c.(1021-1023)Cgc>Tgc p.R341C COADREAD 9 139836692 139836692 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr9:139836692C>T c.902G>A c.(901-903)gGc>gAc p.G301D COADREAD 9 139837052 139837052 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr9:139837052G>A c.622C>T c.(622-624)Cgc>Tgc p.R208C COADREAD 9 139837324 139837324 + Silent SNP G G T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr9:139837324G>T c.423C>A c.(421-423)acC>acA p.T141T COADREAD 9 139837342 139837342 + Silent SNP G G T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr9:139837342G>T c.405C>A c.(403-405)ccC>ccA p.P135P COADREAD 9 139837356 139837356 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr9:139837356C>T c.391G>A c.(391-393)Gcg>Acg p.A131T COADREAD 9 139838522 139838522 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr9:139838522C>T c.14G>A c.(13-15)gGc>gAc p.G5D DLBC 9 139835558 139835558 + Missense_Mutation SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr9:139835558C>T c.1523G>A c.(1522-1524)cGg>cAg p.R508Q DLBC 9 139835725 139835725 + Missense_Mutation SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr9:139835725C>T c.1435G>A c.(1435-1437)Gtc>Atc p.V479I DLBC 9 139836694 139836694 + Silent SNP C C T TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr9:139836694C>T c.900G>A c.(898-900)gaG>gaA p.E300E DLBC 9 139838414 139838414 + Missense_Mutation SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr9:139838414C>T c.122G>A c.(121-123)cGg>cAg p.R41Q ESCA 9 139835770 139835770 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr9:139835770G>A c.1390C>T c.(1390-1392)Cgc>Tgc p.R464C ESCA 9 139836708 139836708 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr9:139836708C>T c.886G>A c.(886-888)Gcc>Acc p.A296T ESCA 9 139837095 139837095 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr9:139837095G>T c.579C>A c.(577-579)ggC>ggA p.G193G ESCA 9 139837916 139837916 + Missense_Mutation SNP G G A TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr9:139837916G>A c.236C>T c.(235-237)aCg>aTg p.T79M GBMLGG 9 139835906 139835906 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:139835906G>A c.1254C>T c.(1252-1254)taC>taT p.Y418Y HNSC 9 139837261 139837261 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr9:139837261C>T c.486G>A c.(484-486)ccG>ccA p.P162P HNSC 9 139837266 139837266 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr9:139837266C>T c.481G>A c.(481-483)Ggg>Agg p.G161R KIPAN 9 139837902 139837902 + Nonsense_Mutation SNP C C A TCGA-BP-4771-01A-01D-1366-10 TCGA-BP-4771-11A-01D-1367-10 g.chr9:139837902C>A c.250G>T c.(250-252)Gag>Tag p.E84* KIRC 9 139837902 139837902 + Nonsense_Mutation SNP C C A TCGA-BP-4771-01A-01D-1366-10 TCGA-BP-4771-11A-01D-1367-10 g.chr9:139837902C>A c.250G>T c.(250-252)Gag>Tag p.E84* LGG 9 139835906 139835906 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:139835906G>A c.1254C>T c.(1252-1254)taC>taT p.Y418Y LIHC 9 139835867 139835867 + Silent SNP G G A TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr9:139835867G>A c.1293C>T c.(1291-1293)gcC>gcT p.A431A LIHC 9 139836076 139836076 + Missense_Mutation SNP C C A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr9:139836076C>A c.1157G>T c.(1156-1158)cGg>cTg p.R386L LIHC 9 139836598 139836598 + Silent SNP G G C TCGA-G3-AAV6-01A-21D-A36X-10 TCGA-G3-AAV6-10A-01D-A370-10 g.chr9:139836598G>C c.996C>G c.(994-996)gcC>gcG p.A332A LIHC 9 139837919 139837919 + Missense_Mutation SNP T T C TCGA-DD-AAD2-01A-11D-A40R-10 TCGA-DD-AAD2-10A-01D-A40U-10 g.chr9:139837919T>C c.233A>G c.(232-234)gAc>gGc p.D78G LIHC 9 139837940 139837940 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr9:139837940T>C c.212A>G c.(211-213)gAg>gGg p.E71G LUAD 9 139835622 139835622 + Splice_Site SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr9:139835622C>T c.1459G>A c.(1459-1461)Ggg>Agg p.G487R LUAD 9 139835797 139835797 + Nonsense_Mutation SNP C C A TCGA-86-8054-01A-11D-2238-08 TCGA-86-8054-10A-01D-2238-08 g.chr9:139835797C>A c.1363G>T c.(1363-1365)Gag>Tag p.E455* LUSC 9 139835710 139835710 + Missense_Mutation SNP C C A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr9:139835710C>A c.1450G>T c.(1450-1452)Gtg>Ttg p.V484L LUSC 9 139835842 139835842 + Missense_Mutation SNP C C T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr9:139835842C>T c.1318G>A c.(1318-1320)Gcg>Acg p.A440T PAAD 9 139835466 139835466 + Missense_Mutation SNP G G A TCGA-IB-A5SO-01A-11D-A32N-08 TCGA-IB-A5SO-10A-01D-A32N-08 g.chr9:139835466G>A c.1615C>T c.(1615-1617)Cgc>Tgc p.R539C PAAD 9 139835759 139835759 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:139835759C>T c.1401G>A c.(1399-1401)acG>acA p.T467T PAAD 9 139836053 139836053 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:139836053C>T c.1180G>A c.(1180-1182)Gcg>Acg p.A394T PAAD 9 139836666 139836666 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:139836666G>A c.928C>T c.(928-930)Ctg>Ttg p.L310L PRAD 9 139835726 139835726 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:139835726G>A c.1434C>T c.(1432-1434)gaC>gaT p.D478D READ 9 139837342 139837342 + Silent SNP G G T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr9:139837342G>T c.405C>A c.(403-405)ccC>ccA p.P135P SARC 9 139835416 139835417 + Frame_Shift_Del DEL GC GC - TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 g.chr9:139835416_139835417delGC c.1664_1665delGC c.(1663-1665)cgcfs p.R555fs SARC 9 139835424 139835424 + Missense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 g.chr9:139835424G>A c.1657C>T c.(1657-1659)Cgg>Tgg p.R553W SKCM 9 139835775 139835775 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr9:139835775G>A c.1385C>T c.(1384-1386)gCg>gTg p.A462V SKCM 9 139835912 139835912 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr9:139835912G>A c.1248C>T c.(1246-1248)taC>taT p.Y416Y SKCM 9 139836504 139836504 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr9:139836504G>A c.1090C>T c.(1090-1092)Cag>Tag p.Q364*

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 9 139836636 139836636 single base substitution C G downstream_gene_variant BLCA-US 9 139836636 139836636 single base substitution C G exon_variant BLCA-US 9 139836636 139836636 single base substitution C G missense_variant E155Q 463G>C BLCA-US 9 139836636 139836636 single base substitution C G missense_variant E320Q 958G>C BLCA-US 9 139837920 139837920 single base substitution C A exon_variant BLCA-US 9 139837920 139837920 single base substitution C A missense_variant D78Y 232G>T BLCA-US 9 139837920 139837920 single base substitution C A upstream_gene_variant BRCA-EU 9 139830003 139830003 single base substitution T G downstream_gene_variant BRCA-EU 9 139830087 139830087 single base substitution G A downstream_gene_variant BRCA-EU 9 139830556 139830556 single base substitution G A downstream_gene_variant BRCA-EU 9 139831697 139831697 single base substitution G C downstream_gene_variant BRCA-EU 9 139831754 139831754 single base substitution G C downstream_gene_variant BRCA-EU 9 139832168 139832168 single base substitution T A downstream_gene_variant BRCA-EU 9 139833014 139833014 single base substitution G A downstream_gene_variant BRCA-EU 9 139833203 139833203 single base substitution C A downstream_gene_variant BRCA-EU 9 139833421 139833421 single base substitution C A downstream_gene_variant BRCA-EU 9 139833711 139833711 single base substitution C T downstream_gene_variant BRCA-EU 9 139833748 139833748 single base substitution A T downstream_gene_variant BRCA-EU 9 139834415 139834415 single base substitution G T downstream_gene_variant BRCA-EU 9 139834502 139834502 single base substitution G A downstream_gene_variant BRCA-EU 9 139835343 139835343 single base substitution C G 3_prime_UTR_variant BRCA-EU 9 139835343 139835343 single base substitution C G downstream_gene_variant BRCA-EU 9 139835343 139835343 single base substitution C G exon_variant BRCA-EU 9 139836290 139836290 single base substitution C G downstream_gene_variant BRCA-EU 9 139836290 139836290 single base substitution C G exon_variant BRCA-EU 9 139836290 139836290 single base substitution C G intron_variant BRCA-EU 9 139836912 139836912 single base substitution C A downstream_gene_variant BRCA-EU 9 139836912 139836912 single base substitution C A exon_variant BRCA-EU 9 139836912 139836912 single base substitution C A stop_gained E228* 682G>T BRCA-EU 9 139836912 139836912 single base substitution C A stop_gained E63* 187G>T BRCA-EU 9 139838138 139838138 deletion of <=200bp C - intron_variant BRCA-EU 9 139838138 139838138 deletion of <=200bp C - upstream_gene_variant BRCA-EU 9 139839086 139839086 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 9 139839086 139839086 single base substitution G A exon_variant BRCA-EU 9 139839086 139839086 single base substitution G A upstream_gene_variant BRCA-EU 9 139839920 139839920 deletion of <=200bp G - upstream_gene_variant BRCA-EU 9 139840158 139840158 single base substitution G A upstream_gene_variant BRCA-EU 9 139840267 139840267 single base substitution C G upstream_gene_variant BRCA-EU 9 139840830 139840830 single base substitution G A upstream_gene_variant BRCA-EU 9 139842265 139842265 single base substitution G A upstream_gene_variant BRCA-EU 9 139842467 139842467 single base substitution G A upstream_gene_variant BRCA-EU 9 139842468 139842468 single base substitution A T upstream_gene_variant BRCA-EU 9 139843537 139843537 single base substitution C A upstream_gene_variant BRCA-EU 9 139843704 139843704 single base substitution C T upstream_gene_variant BRCA-FR 9 139831302 139831302 single base substitution C T downstream_gene_variant BRCA-FR 9 139835343 139835343 single base substitution C G 3_prime_UTR_variant BRCA-FR 9 139835343 139835343 single base substitution C G downstream_gene_variant BRCA-FR 9 139835343 139835343 single base substitution C G exon_variant BRCA-FR 9 139836290 139836290 single base substitution C G downstream_gene_variant BRCA-FR 9 139836290 139836290 single base substitution C G exon_variant BRCA-FR 9 139836290 139836290 single base substitution C G intron_variant BRCA-FR 9 139836912 139836912 single base substitution C A downstream_gene_variant BRCA-FR 9 139836912 139836912 single base substitution C A exon_variant BRCA-FR 9 139836912 139836912 single base substitution C A stop_gained E228* 682G>T BRCA-FR 9 139836912 139836912 single base substitution C A stop_gained E63* 187G>T BRCA-FR 9 139840158 139840158 single base substitution G A upstream_gene_variant BRCA-FR 9 139840267 139840267 single base substitution C G upstream_gene_variant BRCA-FR 9 139842467 139842467 single base substitution G A upstream_gene_variant BRCA-FR 9 139842468 139842468 single base substitution A T upstream_gene_variant BRCA-FR 9 139843704 139843704 single base substitution C T upstream_gene_variant BRCA-KR 9 139837393 139837393 single base substitution G C exon_variant BRCA-KR 9 139837393 139837393 single base substitution G C missense_variant I118M 354C>G BRCA-KR 9 139837393 139837393 single base substitution G C missense_variant I128M 384C>G BRCA-KR 9 139837393 139837393 single base substitution G C splice_region_variant BRCA-KR 9 139837393 139837393 single base substitution G C upstream_gene_variant BRCA-UK 9 139835749 139835749 single base substitution C T downstream_gene_variant BRCA-UK 9 139835749 139835749 single base substitution C T exon_variant BRCA-UK 9 139835749 139835749 single base substitution C T missense_variant E471K 1411G>A BRCA-UK 9 139837443 139837443 single base substitution C T exon_variant BRCA-UK 9 139837443 139837443 single base substitution C T intron_variant BRCA-UK 9 139837443 139837443 single base substitution C T upstream_gene_variant BRCA-US 9 139840387 139840387 single base substitution G T upstream_gene_variant BRCA-US 9 139841102 139841102 single base substitution G T upstream_gene_variant BTCA-JP 9 139838032 139838032 single base substitution A T intron_variant BTCA-JP 9 139838032 139838032 single base substitution A T upstream_gene_variant BTCA-JP 9 139839920 139839920 insertion of <=200bp - G upstream_gene_variant BTCA-JP 9 139839986 139839986 single base substitution C T upstream_gene_variant CESC-US 9 139835782 139835782 single base substitution G C downstream_gene_variant CESC-US 9 139835782 139835782 single base substitution G C exon_variant CESC-US 9 139835782 139835782 single base substitution G C missense_variant L460V 1378C>G CESC-US 9 139836132 139836132 single base substitution G C downstream_gene_variant CESC-US 9 139836132 139836132 single base substitution G C exon_variant CESC-US 9 139836132 139836132 single base substitution G C missense_variant I202M 606C>G CESC-US 9 139836132 139836132 single base substitution G C missense_variant I367M 1101C>G CESC-US 9 139838386 139838386 single base substitution G A exon_variant CESC-US 9 139838386 139838386 single base substitution G A synonymous_variant F50F 150C>T CESC-US 9 139838386 139838386 single base substitution G A upstream_gene_variant CESC-US 9 139840397 139840397 single base substitution C T upstream_gene_variant CESC-US 9 139840540 139840540 single base substitution G T upstream_gene_variant CESC-US 9 139840549 139840549 single base substitution G A upstream_gene_variant CLLE-ES 9 139834862 139834862 single base substitution T C downstream_gene_variant CLLE-ES 9 139840885 139840885 single base substitution C T upstream_gene_variant COAD-US 9 139835727 139835727 single base substitution T A downstream_gene_variant COAD-US 9 139835727 139835727 single base substitution T A exon_variant COAD-US 9 139835727 139835727 single base substitution T A missense_variant D478V 1433A>T COAD-US 9 139836527 139836527 single base substitution C T downstream_gene_variant COAD-US 9 139836527 139836527 single base substitution C T exon_variant COAD-US 9 139836527 139836527 single base substitution C T intron_variant COAD-US 9 139836527 139836527 single base substitution C T missense_variant G191D 572G>A COAD-US 9 139836527 139836527 single base substitution C T missense_variant G356D 1067G>A COAD-US 9 139836573 139836573 single base substitution G A downstream_gene_variant COAD-US 9 139836573 139836573 single base substitution G A exon_variant COAD-US 9 139836573 139836573 single base substitution G A missense_variant R176C 526C>T COAD-US 9 139836573 139836573 single base substitution G A missense_variant R341C 1021C>T COAD-US 9 139836692 139836692 single base substitution C T downstream_gene_variant COAD-US 9 139836692 139836692 single base substitution C T exon_variant COAD-US 9 139836692 139836692 single base substitution C T missense_variant G136D 407G>A COAD-US 9 139836692 139836692 single base substitution C T missense_variant G301D 902G>A COAD-US 9 139837052 139837052 single base substitution G A downstream_gene_variant COAD-US 9 139837052 139837052 single base substitution G A exon_variant COAD-US 9 139837052 139837052 single base substitution G A missense_variant R208C 622C>T COAD-US 9 139837052 139837052 single base substitution G A missense_variant R43C 127C>T COAD-US 9 139837324 139837324 single base substitution G T downstream_gene_variant COAD-US 9 139837324 139837324 single base substitution G T exon_variant COAD-US 9 139837324 139837324 single base substitution G T synonymous_variant T141T 423C>A COAD-US 9 139837324 139837324 single base substitution G T synonymous_variant T151T 453C>A COAD-US 9 139837324 139837324 single base substitution G T upstream_gene_variant COAD-US 9 139837356 139837356 single base substitution C T downstream_gene_variant COAD-US 9 139837356 139837356 single base substitution C T exon_variant COAD-US 9 139837356 139837356 single base substitution C T missense_variant A131T 391G>A COAD-US 9 139837356 139837356 single base substitution C T missense_variant A141T 421G>A COAD-US 9 139837356 139837356 single base substitution C T upstream_gene_variant COAD-US 9 139839779 139839779 deletion of <=200bp C - upstream_gene_variant COAD-US 9 139839904 139839904 single base substitution T G upstream_gene_variant COAD-US 9 139840435 139840435 single base substitution C T upstream_gene_variant COCA-CN 9 139835694 139835694 single base substitution G A downstream_gene_variant COCA-CN 9 139835694 139835694 single base substitution G A intron_variant COCA-CN 9 139840097 139840097 single base substitution C A upstream_gene_variant COCA-CN 9 139840122 139840122 single base substitution G A upstream_gene_variant COCA-CN 9 139841110 139841110 single base substitution C T upstream_gene_variant COCA-CN 9 139843319 139843319 single base substitution C T upstream_gene_variant EOPC-DE 9 139834362 139834362 single base substitution C T downstream_gene_variant ESAD-UK 9 139830626 139830626 single base substitution G T downstream_gene_variant ESAD-UK 9 139831631 139831631 single base substitution G C downstream_gene_variant ESAD-UK 9 139833263 139833263 single base substitution G A downstream_gene_variant ESAD-UK 9 139833770 139833770 single base substitution G A downstream_gene_variant ESAD-UK 9 139837288 139837288 single base substitution C T downstream_gene_variant ESAD-UK 9 139837288 139837288 single base substitution C T exon_variant ESAD-UK 9 139837288 139837288 single base substitution C T synonymous_variant L153L 459G>A ESAD-UK 9 139837288 139837288 single base substitution C T synonymous_variant L163L 489G>A ESAD-UK 9 139837288 139837288 single base substitution C T upstream_gene_variant ESAD-UK 9 139839063 139839063 single base substitution G A 5_prime_UTR_variant ESAD-UK 9 139839063 139839063 single base substitution G A exon_variant ESAD-UK 9 139839063 139839063 single base substitution G A upstream_gene_variant ESAD-UK 9 139839987 139839987 single base substitution G A upstream_gene_variant ESAD-UK 9 139841783 139841783 single base substitution T G upstream_gene_variant ESAD-UK 9 139842008 139842008 single base substitution G A upstream_gene_variant ESAD-UK 9 139843257 139843257 single base substitution A C upstream_gene_variant ESCA-CN 9 139835462 139835462 single base substitution G A downstream_gene_variant ESCA-CN 9 139835462 139835462 single base substitution G A exon_variant ESCA-CN 9 139835462 139835462 single base substitution G A missense_variant S540F 1619C>T ESCA-CN 9 139835604 139835604 single base substitution C T downstream_gene_variant ESCA-CN 9 139835604 139835604 single base substitution C T exon_variant ESCA-CN 9 139835604 139835604 single base substitution C T missense_variant G493S 1477G>A ESCA-CN 9 139838398 139838398 single base substitution C G exon_variant ESCA-CN 9 139838398 139838398 single base substitution C G missense_variant W46C 138G>C ESCA-CN 9 139838398 139838398 single base substitution C G upstream_gene_variant KIRC-US 9 139837370 139837370 single base substitution G A exon_variant KIRC-US 9 139837370 139837370 single base substitution G A missense_variant S126L 377C>T KIRC-US 9 139837370 139837370 single base substitution G A missense_variant S136L 407C>T KIRC-US 9 139837370 139837370 single base substitution G A upstream_gene_variant KIRC-US 9 139837902 139837902 single base substitution C A exon_variant KIRC-US 9 139837902 139837902 single base substitution C A stop_gained E84* 250G>T KIRC-US 9 139837902 139837902 single base substitution C A upstream_gene_variant KIRC-US 9 139839785 139839785 single base substitution G A upstream_gene_variant KIRP-US 9 139837319 139837319 single base substitution A C downstream_gene_variant KIRP-US 9 139837319 139837319 single base substitution A C exon_variant KIRP-US 9 139837319 139837319 single base substitution A C missense_variant F143C 428T>G KIRP-US 9 139837319 139837319 single base substitution A C missense_variant F153C 458T>G KIRP-US 9 139837319 139837319 single base substitution A C upstream_gene_variant LAML-KR 9 139843206 139843206 single base substitution A G upstream_gene_variant LIAD-FR 9 139835558 139835558 single base substitution C T downstream_gene_variant LIAD-FR 9 139835558 139835558 single base substitution C T exon_variant LIAD-FR 9 139835558 139835558 single base substitution C T missense_variant R508Q 1523G>A LICA-CN 9 139836041 139836041 single base substitution C T downstream_gene_variant LICA-CN 9 139836041 139836041 single base substitution C T exon_variant LICA-CN 9 139836041 139836041 single base substitution C T missense_variant V233I 697G>A LICA-CN 9 139836041 139836041 single base substitution C T missense_variant V398I 1192G>A LICA-FR 9 139831768 139831768 single base substitution A C downstream_gene_variant LICA-FR 9 139836841 139836841 single base substitution C T downstream_gene_variant LICA-FR 9 139836841 139836841 single base substitution C T exon_variant LICA-FR 9 139836841 139836841 single base substitution C T synonymous_variant T251T 753G>A LICA-FR 9 139836841 139836841 single base substitution C T synonymous_variant T86T 258G>A LICA-FR 9 139840403 139840403 single base substitution C T upstream_gene_variant LICA-FR 9 139840599 139840599 single base substitution G T upstream_gene_variant LIHC-US 9 139836046 139836046 single base substitution T C downstream_gene_variant LIHC-US 9 139836046 139836046 single base substitution T C exon_variant LIHC-US 9 139836046 139836046 single base substitution T C missense_variant D231G 692A>G LIHC-US 9 139836046 139836046 single base substitution T C missense_variant D396G 1187A>G LIHC-US 9 139837928 139837928 single base substitution C T exon_variant LIHC-US 9 139837928 139837928 single base substitution C T missense_variant R75Q 224G>A LIHC-US 9 139837928 139837928 single base substitution C T upstream_gene_variant LINC-JP 9 139833678 139833696 deletion of <=200bp GTAGGTAAGTCCTTTTCAG - downstream_gene_variant LINC-JP 9 139833830 139833830 single base substitution C T downstream_gene_variant LINC-JP 9 139834643 139834643 single base substitution C G downstream_gene_variant LINC-JP 9 139836311 139836311 single base substitution C T downstream_gene_variant LINC-JP 9 139836311 139836311 single base substitution C T exon_variant LINC-JP 9 139836311 139836311 single base substitution C T intron_variant LINC-JP 9 139836350 139836350 single base substitution G A downstream_gene_variant LINC-JP 9 139836350 139836350 single base substitution G A exon_variant LINC-JP 9 139836350 139836350 single base substitution G A intron_variant LINC-JP 9 139839625 139839625 single base substitution C A upstream_gene_variant LINC-JP 9 139843288 139843288 single base substitution A G upstream_gene_variant LIRI-JP 9 139831410 139831410 single base substitution A G downstream_gene_variant LIRI-JP 9 139833699 139833699 single base substitution A C downstream_gene_variant LIRI-JP 9 139834865 139834865 single base substitution A C downstream_gene_variant LIRI-JP 9 139835816 139835816 single base substitution G A downstream_gene_variant LIRI-JP 9 139835816 139835816 single base substitution G A exon_variant LIRI-JP 9 139835816 139835816 single base substitution G A synonymous_variant F448F 1344C>T LIRI-JP 9 139839901 139839901 single base substitution T C upstream_gene_variant LIRI-JP 9 139841561 139841561 single base substitution G T upstream_gene_variant LIRI-JP 9 139842095 139842095 single base substitution A C upstream_gene_variant LIRI-JP 9 139842953 139842953 single base substitution C T upstream_gene_variant LIRI-JP 9 139843033 139843033 single base substitution T G upstream_gene_variant LIRI-JP 9 139843037 139843037 single base substitution C G upstream_gene_variant LIRI-JP 9 139843712 139843712 single base substitution G C upstream_gene_variant LUSC-KR 9 139830349 139830349 single base substitution A G downstream_gene_variant LUSC-KR 9 139833203 139833203 single base substitution C A downstream_gene_variant LUSC-KR 9 139837787 139837787 single base substitution C T intron_variant LUSC-KR 9 139837787 139837787 single base substitution C T upstream_gene_variant LUSC-KR 9 139842429 139842429 single base substitution A G upstream_gene_variant LUSC-US 9 139835710 139835710 single base substitution C A downstream_gene_variant LUSC-US 9 139835710 139835710 single base substitution C A exon_variant LUSC-US 9 139835710 139835710 single base substitution C A missense_variant V484L 1450G>T LUSC-US 9 139835842 139835842 single base substitution C T downstream_gene_variant LUSC-US 9 139835842 139835842 single base substitution C T exon_variant LUSC-US 9 139835842 139835842 single base substitution C T missense_variant A440T 1318G>A MALY-DE 9 139831572 139831572 single base substitution A T downstream_gene_variant MALY-DE 9 139839928 139839928 single base substitution T G upstream_gene_variant MALY-DE 9 139840048 139840048 single base substitution C A upstream_gene_variant MELA-AU 9 139830105 139830106 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 139830439 139830439 single base substitution G A downstream_gene_variant MELA-AU 9 139831208 139831208 single base substitution C T downstream_gene_variant MELA-AU 9 139832896 139832896 single base substitution C T downstream_gene_variant MELA-AU 9 139833071 139833071 single base substitution C T downstream_gene_variant MELA-AU 9 139833084 139833084 single base substitution G A downstream_gene_variant MELA-AU 9 139833233 139833233 single base substitution T A downstream_gene_variant MELA-AU 9 139833452 139833452 single base substitution C G downstream_gene_variant MELA-AU 9 139833523 139833523 single base substitution G A downstream_gene_variant MELA-AU 9 139833759 139833759 single base substitution C T downstream_gene_variant MELA-AU 9 139833992 139833992 single base substitution C T downstream_gene_variant MELA-AU 9 139834752 139834752 single base substitution T G downstream_gene_variant MELA-AU 9 139836426 139836426 single base substitution C T downstream_gene_variant MELA-AU 9 139836426 139836426 single base substitution C T exon_variant MELA-AU 9 139836426 139836426 single base substitution C T intron_variant MELA-AU 9 139836829 139836829 single base substitution G A downstream_gene_variant MELA-AU 9 139836829 139836829 single base substitution G A exon_variant MELA-AU 9 139836829 139836829 single base substitution G A synonymous_variant A255A 765C>T MELA-AU 9 139836829 139836829 single base substitution G A synonymous_variant A90A 270C>T MELA-AU 9 139837033 139837033 single base substitution G A downstream_gene_variant MELA-AU 9 139837033 139837033 single base substitution G A exon_variant MELA-AU 9 139837033 139837033 single base substitution G A missense_variant S214F 641C>T MELA-AU 9 139837033 139837033 single base substitution G A missense_variant S49F 146C>T MELA-AU 9 139837080 139837080 single base substitution C T downstream_gene_variant MELA-AU 9 139837080 139837080 single base substitution C T exon_variant MELA-AU 9 139837080 139837080 single base substitution C T synonymous_variant E198E 594G>A MELA-AU 9 139837080 139837080 single base substitution C T synonymous_variant E33E 99G>A MELA-AU 9 139837709 139837709 single base substitution C A intron_variant MELA-AU 9 139837709 139837709 single base substitution C A upstream_gene_variant MELA-AU 9 139837831 139837831 single base substitution G A exon_variant MELA-AU 9 139837831 139837831 single base substitution G A synonymous_variant F107F 321C>T MELA-AU 9 139837831 139837831 single base substitution G A upstream_gene_variant MELA-AU 9 139838181 139838181 single base substitution G A intron_variant MELA-AU 9 139838181 139838181 single base substitution G A upstream_gene_variant MELA-AU 9 139838231 139838231 single base substitution G T intron_variant MELA-AU 9 139838231 139838231 single base substitution G T upstream_gene_variant MELA-AU 9 139838783 139838783 single base substitution G A 5_prime_UTR_variant MELA-AU 9 139838783 139838783 single base substitution G A intron_variant MELA-AU 9 139838783 139838783 single base substitution G A upstream_gene_variant MELA-AU 9 139839675 139839675 single base substitution C T upstream_gene_variant MELA-AU 9 139840104 139840104 single base substitution C T upstream_gene_variant MELA-AU 9 139841167 139841167 single base substitution G A upstream_gene_variant MELA-AU 9 139841444 139841444 single base substitution C T upstream_gene_variant MELA-AU 9 139841655 139841655 single base substitution C T upstream_gene_variant MELA-AU 9 139841658 139841659 multiple base substitution (>=2bp and <=200bp) TT CA upstream_gene_variant MELA-AU 9 139841960 139841960 single base substitution C A upstream_gene_variant MELA-AU 9 139842256 139842256 single base substitution C T upstream_gene_variant MELA-AU 9 139842319 139842319 single base substitution G A upstream_gene_variant MELA-AU 9 139842413 139842413 single base substitution C T upstream_gene_variant MELA-AU 9 139842595 139842595 single base substitution G A upstream_gene_variant MELA-AU 9 139843456 139843457 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant ORCA-IN 9 139835619 139835619 single base substitution C A downstream_gene_variant ORCA-IN 9 139835619 139835619 single base substitution C A exon_variant ORCA-IN 9 139835619 139835619 single base substitution C A missense_variant A488S 1462G>T ORCA-IN 9 139837929 139837929 single base substitution G T exon_variant ORCA-IN 9 139837929 139837929 single base substitution G T synonymous_variant R75R 223C>A ORCA-IN 9 139837929 139837929 single base substitution G T upstream_gene_variant ORCA-IN 9 139840133 139840133 single base substitution C A upstream_gene_variant OV-AU 9 139834085 139834085 single base substitution T A downstream_gene_variant OV-AU 9 139835123 139835123 single base substitution G A 3_prime_UTR_variant OV-AU 9 139835123 139835123 single base substitution G A downstream_gene_variant OV-AU 9 139835123 139835123 single base substitution G A exon_variant OV-AU 9 139837200 139837200 single base substitution C T downstream_gene_variant OV-AU 9 139837200 139837200 single base substitution C T exon_variant OV-AU 9 139837200 139837200 single base substitution C T intron_variant OV-AU 9 139837200 139837200 single base substitution C T upstream_gene_variant OV-AU 9 139840062 139840062 single base substitution A T upstream_gene_variant OV-AU 9 139843599 139843599 single base substitution C T upstream_gene_variant PACA-AU 9 139835445 139835445 single base substitution C T downstream_gene_variant PACA-AU 9 139835445 139835445 single base substitution C T exon_variant PACA-AU 9 139835445 139835445 single base substitution C T missense_variant V546I 1636G>A PACA-AU 9 139835794 139835794 single base substitution C A downstream_gene_variant PACA-AU 9 139835794 139835794 single base substitution C A exon_variant PACA-AU 9 139835794 139835794 single base substitution C A missense_variant V456L 1366G>T PACA-AU 9 139837438 139837438 single base substitution C T exon_variant PACA-AU 9 139837438 139837438 single base substitution C T intron_variant PACA-AU 9 139837438 139837438 single base substitution C T upstream_gene_variant PACA-AU 9 139838138 139838138 deletion of <=200bp C - intron_variant PACA-AU 9 139838138 139838138 deletion of <=200bp C - upstream_gene_variant PACA-AU 9 139841346 139841346 deletion of <=200bp C - upstream_gene_variant PACA-AU 9 139841787 139841787 single base substitution A G upstream_gene_variant PACA-AU 9 139842008 139842008 single base substitution G A upstream_gene_variant PACA-AU 9 139842366 139842367 deletion of <=200bp GG - upstream_gene_variant PACA-AU 9 139842934 139842934 single base substitution C T upstream_gene_variant PACA-AU 9 139843207 139843207 single base substitution A G upstream_gene_variant PACA-AU 9 139843724 139843724 single base substitution T G upstream_gene_variant PACA-CA 9 139830482 139830482 single base substitution G A downstream_gene_variant PACA-CA 9 139834848 139834848 single base substitution A C downstream_gene_variant PACA-CA 9 139836052 139836052 single base substitution G A downstream_gene_variant PACA-CA 9 139836052 139836052 single base substitution G A exon_variant PACA-CA 9 139836052 139836052 single base substitution G A missense_variant A229V 686C>T PACA-CA 9 139836052 139836052 single base substitution G A missense_variant A394V 1181C>T PACA-CA 9 139836765 139836765 insertion of <=200bp - G downstream_gene_variant PACA-CA 9 139836765 139836765 insertion of <=200bp - G exon_variant PACA-CA 9 139836765 139836765 insertion of <=200bp - G frameshift_variant C112S? PACA-CA 9 139836765 139836765 insertion of <=200bp - G frameshift_variant C277S? PACA-CA 9 139839920 139839920 deletion of <=200bp G - upstream_gene_variant PACA-CA 9 139841471 139841471 single base substitution A G upstream_gene_variant PBCA-DE 9 139831372 139831372 single base substitution A G downstream_gene_variant PRAD-CA 9 139843712 139843712 single base substitution G A upstream_gene_variant PRAD-UK 9 139837246 139837246 single base substitution G A downstream_gene_variant PRAD-UK 9 139837246 139837246 single base substitution G A exon_variant PRAD-UK 9 139837246 139837246 single base substitution G A synonymous_variant S167S 501C>T PRAD-UK 9 139837246 139837246 single base substitution G A synonymous_variant S177S 531C>T PRAD-UK 9 139837246 139837246 single base substitution G A upstream_gene_variant PRAD-UK 9 139837439 139837439 single base substitution G A exon_variant PRAD-UK 9 139837439 139837439 single base substitution G A intron_variant PRAD-UK 9 139837439 139837439 single base substitution G A upstream_gene_variant READ-US 9 139840999 139840999 single base substitution C A upstream_gene_variant SKCA-BR 9 139830940 139830940 single base substitution T C downstream_gene_variant SKCA-BR 9 139835268 139835268 single base substitution T C 3_prime_UTR_variant SKCA-BR 9 139835268 139835268 single base substitution T C downstream_gene_variant SKCA-BR 9 139835268 139835268 single base substitution T C exon_variant SKCA-BR 9 139835958 139835958 single base substitution A C downstream_gene_variant SKCA-BR 9 139835958 139835958 single base substitution A C intron_variant SKCA-BR 9 139836952 139836952 single base substitution G A downstream_gene_variant SKCA-BR 9 139836952 139836952 single base substitution G A exon_variant SKCA-BR 9 139836952 139836952 single base substitution G A intron_variant SKCA-BR 9 139837699 139837700 deletion of <=200bp CA - intron_variant SKCA-BR 9 139837699 139837700 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 9 139838756 139838756 single base substitution T C 5_prime_UTR_variant SKCA-BR 9 139838756 139838756 single base substitution T C intron_variant SKCA-BR 9 139838756 139838756 single base substitution T C upstream_gene_variant SKCA-BR 9 139838954 139838954 single base substitution A G 5_prime_UTR_variant SKCA-BR 9 139838954 139838954 single base substitution A G intron_variant SKCA-BR 9 139838954 139838954 single base substitution A G upstream_gene_variant SKCA-BR 9 139841482 139841482 single base substitution G C upstream_gene_variant SKCA-BR 9 139843356 139843356 single base substitution T A upstream_gene_variant SKCM-US 9 139835775 139835775 single base substitution G A downstream_gene_variant SKCM-US 9 139835775 139835775 single base substitution G A exon_variant SKCM-US 9 139835775 139835775 single base substitution G A missense_variant A462V 1385C>T SKCM-US 9 139835912 139835912 single base substitution G A downstream_gene_variant SKCM-US 9 139835912 139835912 single base substitution G A exon_variant SKCM-US 9 139835912 139835912 single base substitution G A synonymous_variant Y251Y 753C>T SKCM-US 9 139835912 139835912 single base substitution G A synonymous_variant Y416Y 1248C>T SKCM-US 9 139836504 139836504 single base substitution G A downstream_gene_variant SKCM-US 9 139836504 139836504 single base substitution G A exon_variant SKCM-US 9 139836504 139836504 single base substitution G A intron_variant SKCM-US 9 139836504 139836504 single base substitution G A stop_gained Q199* 595C>T SKCM-US 9 139836504 139836504 single base substitution G A stop_gained Q364* 1090C>T SKCM-US 9 139840445 139840445 single base substitution C T upstream_gene_variant STAD-US 9 139835750 139835750 single base substitution G A downstream_gene_variant STAD-US 9 139835750 139835750 single base substitution G A exon_variant STAD-US 9 139835750 139835750 single base substitution G A synonymous_variant D470D 1410C>T STAD-US 9 139835816 139835816 single base substitution G C downstream_gene_variant STAD-US 9 139835816 139835816 single base substitution G C exon_variant STAD-US 9 139835816 139835816 single base substitution G C missense_variant F448L 1344C>G STAD-US 9 139836005 139836005 single base substitution G T downstream_gene_variant STAD-US 9 139836005 139836005 single base substitution G T exon_variant STAD-US 9 139836005 139836005 single base substitution G T missense_variant L245M 733C>A STAD-US 9 139836005 139836005 single base substitution G T missense_variant L410M 1228C>A STAD-US 9 139836876 139836876 single base substitution T C downstream_gene_variant STAD-US 9 139836876 139836876 single base substitution T C exon_variant STAD-US 9 139836876 139836876 single base substitution T C missense_variant K240E 718A>G STAD-US 9 139836876 139836876 single base substitution T C missense_variant K75E 223A>G STAD-US 9 139840987 139840987 single base substitution T C upstream_gene_variant THCA-SA 9 139834951 139834951 single base substitution G A 3_prime_UTR_variant THCA-SA 9 139834951 139834951 single base substitution G A downstream_gene_variant THCA-SA 9 139834951 139834951 single base substitution G A exon_variant THCA-SA 9 139839904 139839904 single base substitution T G upstream_gene_variant UCEC-US 9 139835466 139835466 single base substitution G A downstream_gene_variant UCEC-US 9 139835466 139835466 single base substitution G A exon_variant UCEC-US 9 139835466 139835466 single base substitution G A missense_variant R539C 1615C>T UCEC-US 9 139835484 139835484 single base substitution C T downstream_gene_variant UCEC-US 9 139835484 139835484 single base substitution C T exon_variant UCEC-US 9 139835484 139835484 single base substitution C T missense_variant A533T 1597G>A UCEC-US 9 139835488 139835488 single base substitution G A downstream_gene_variant UCEC-US 9 139835488 139835488 single base substitution G A exon_variant UCEC-US 9 139835488 139835488 single base substitution G A synonymous_variant D531D 1593C>T UCEC-US 9 139835553 139835553 single base substitution C T downstream_gene_variant UCEC-US 9 139835553 139835553 single base substitution C T exon_variant UCEC-US 9 139835553 139835553 single base substitution C T missense_variant E510K 1528G>A UCEC-US 9 139835751 139835751 single base substitution T C downstream_gene_variant UCEC-US 9 139835751 139835751 single base substitution T C exon_variant UCEC-US 9 139835751 139835751 single base substitution T C missense_variant D470G 1409A>G UCEC-US 9 139836545 139836545 single base substitution T A downstream_gene_variant UCEC-US 9 139836545 139836545 single base substitution T A exon_variant UCEC-US 9 139836545 139836545 single base substitution T A missense_variant Y185F 554A>T UCEC-US 9 139836545 139836545 single base substitution T A missense_variant Y350F 1049A>T UCEC-US 9 139836545 139836545 single base substitution T A splice_region_variant UCEC-US 9 139836644 139836644 single base substitution T G downstream_gene_variant UCEC-US 9 139836644 139836644 single base substitution T G exon_variant UCEC-US 9 139836644 139836644 single base substitution T G missense_variant Q152P 455A>C UCEC-US 9 139836644 139836644 single base substitution T G missense_variant Q317P 950A>C UCEC-US 9 139836698 139836698 single base substitution T C downstream_gene_variant UCEC-US 9 139836698 139836698 single base substitution T C exon_variant UCEC-US 9 139836698 139836698 single base substitution T C missense_variant K134R 401A>G UCEC-US 9 139836698 139836698 single base substitution T C missense_variant K299R 896A>G UCEC-US 9 139836761 139836761 single base substitution C T downstream_gene_variant UCEC-US 9 139836761 139836761 single base substitution C T exon_variant UCEC-US 9 139836761 139836761 single base substitution C T missense_variant R113H 338G>A UCEC-US 9 139836761 139836761 single base substitution C T missense_variant R278H 833G>A UCEC-US 9 139837071 139837071 single base substitution G T downstream_gene_variant UCEC-US 9 139837071 139837071 single base substitution G T exon_variant UCEC-US 9 139837071 139837071 single base substitution G T synonymous_variant L201L 603C>A UCEC-US 9 139837071 139837071 single base substitution G T synonymous_variant L36L 108C>A UCEC-US 9 139840170 139840170 single base substitution C A upstream_gene_variant UCEC-US 9 139841140 139841140 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Gp5D COSM3395683 c.1636G>A p.V546I Substitution - Missense 9:136940993-136940993 - C658 COSM4443614 c.1036G>A p.A346T Substitution - Missense 9:136942106-136942106 - pfg015T COSM1643783 c.669C>T p.A223A Substitution - coding silent 9:136942553-136942553 - 388 COSM3721797 c.1184T>C p.L395P Substitution - Missense 9:136941597-136941597 - TCGA-D3-A1Q4-06 COSM3926463 c.1385C>T p.A462V Substitution - Missense 9:136941323-136941323 - TCGA-AA-3713-01 COSM3699575 c.1433A>T p.D478V Substitution - Missense 9:136941275-136941275 - 1_PRE-TREATMENT COSM1718852 c.1215C>T p.I405I Substitution - coding silent 9:136941566-136941566 - S01020 COSM5665424 c.99C>A p.C33* Substitution - Nonsense 9:136943985-136943985 - PD18047a COSM5787038 c.682G>T p.E228* Substitution - Nonsense 9:136942460-136942460 - HOP-62 COSM1674979 c.561G>T p.K187N Substitution - Missense 9:136942661-136942661 - 2492700 COSM5599545 c.606C>T p.I202I Substitution - coding silent 9:136942616-136942616 - Gp2D COSM3395683 c.1636G>A p.V546I Substitution - Missense 9:136940993-136940993 - LIM1215 COSM4372414 c.1256T>C p.V419A Substitution - Missense 9:136941452-136941452 - Pat_06_B COSM5875905 c.194C>T p.A65V Substitution - Missense 9:136943506-136943506 - UM-SCC-4 COSM3216749 c.700G>A p.V234M Substitution - Missense 9:136942442-136942442 - LOVO COSM4645672 c.1514C>T p.A505V Substitution - Missense 9:136941115-136941115 - OSCC-GB_00350111 COSM3716249 c.223C>A p.R75R Substitution - coding silent 9:136943477-136943477 - T3091 COSM4684089 c.228G>A p.L76L Substitution - coding silent 9:136943472-136943472 - SC_9008 COSM5553725 c.214G>A p.E72K Substitution - Missense 9:136943486-136943486 - UM-SCC-2 COSM4599270 c.1541A>G p.N514S Substitution - Missense 9:136941088-136941088 - TCGA-D5-6540-01 COSM1461259 c.391G>A p.A131T Substitution - Missense 9:136942904-136942904 - TCGA-D5-6930-01 COSM1461254 c.1067G>A p.G356D Substitution - Missense 9:136942075-136942075 - TCGA-D1-A103-01 COSM1106987 c.833G>A p.R278H Substitution - Missense 9:136942309-136942309 - SC_9024 COSM5570842 c.550G>A p.V184M Substitution - Missense 9:136942672-136942672 - H1155 COSM1195679 c.329G>A p.C110Y Substitution - Missense 9:136943371-136943371 - CHEWS006 COSM4588647 c.1353G>A p.K451K Substitution - coding silent 9:136941355-136941355 - TCGA-AD-6889-01 COSM1461257 c.622C>T p.R208C Substitution - Missense 9:136942600-136942600 - PDA_042 COSM3926463 c.1385C>T p.A462V Substitution - Missense 9:136941323-136941323 - TCGA-BR-A4PD-01 COSM3905901 c.1344C>G p.F448L Substitution - Missense 9:136941364-136941364 - TCGA-F4-6703-01 COSM1461258 c.423C>A p.T141T Substitution - coding silent 9:136942872-136942872 - TCGA-B0-4714-01 COSM3367647 c.377C>T p.S126L Substitution - Missense 9:136942918-136942918 - T3225 COSM4684085 c.401G>A p.R134Q Substitution - Missense 9:136942894-136942894 - 1_RESISTANT COSM1718852 c.1215C>T p.I405I Substitution - coding silent 9:136941566-136941566 - CRC-19T COSM5482263 c.1457+9C>T p.? Unknown 9:136941242-136941242 - 2476_PT COSM4592682 c.1043G>A p.S348N Substitution - Missense 9:136942099-136942099 - pfg212T COSM4761984 c.553C>T p.R185W Substitution - Missense 9:136942669-136942669 - TCGA-EK-A3GJ-01 COSM4852296 c.1378C>G p.L460V Substitution - Missense 9:136941330-136941330 - PTC-10C COSM4163594 c.251A>C p.E84A Substitution - Missense 9:136943449-136943449 - 6115237 COSM5567199 c.307T>A p.S103T Substitution - Missense 9:136943393-136943393 - PD4137a COSM161022 c.1411G>A p.E471K Substitution - Missense 9:136941297-136941297 - 388 COSM3721798 c.940G>A p.A314T Substitution - Missense 9:136942202-136942202 - Gp2D COSM3216743 c.1202T>C p.I401T Substitution - Missense 9:136941579-136941579 - 4436_CLM COSM5757343 c.467C>T p.S156L Substitution - Missense 9:136942828-136942828 - OVCAR-5 COSM1674978 c.1357A>G p.M453V Substitution - Missense 9:136941351-136941351 - 1_PRE-TREATMENT COSM1718851 c.1236C>T p.P412P Substitution - coding silent 9:136941545-136941545 - OSCC-GB_00930111 COSM4888291 c.1462G>T p.A488S Substitution - Missense 9:136941167-136941167 - TCGA-G3-A25Y-01 COSM4917951 c.224G>A p.R75Q Substitution - Missense 9:136943476-136943476 - 2492703 COSM5599545 c.606C>T p.I202I Substitution - coding silent 9:136942616-136942616 - 413 COSM4431245 c.1067G>C p.G356A Substitution - Missense 9:136942075-136942075 - S02322 COSM5691633 c.660C>G p.L220L Substitution - coding silent 9:136942562-136942562 - TCGA-BQ-7050-01 COSM3996458 c.428T>G p.F143C Substitution - Missense 9:136942867-136942867 - HCC066T COSM5821325 c.1192G>A p.V398I Substitution - Missense 9:136941589-136941589 - DN12102 COSM5787038 c.682G>T p.E228* Substitution - Nonsense 9:136942460-136942460 - HN_62740 COSM127982 c.690G>A p.E230E Substitution - coding silent 9:136942452-136942452 - TCGA-BR-8487-01 COSM3905903 c.718A>G p.K240E Substitution - Missense 9:136942424-136942424 - D28 COSM5544994 c.1001G>A p.G334D Substitution - Missense 9:136942141-136942141 - 19 COSM5732425 c.1459G>A p.G487R Substitution - Missense 9:136941170-136941170 - 2492701 COSM5599545 c.606C>T p.I202I Substitution - coding silent 9:136942616-136942616 - HT115 COSM4638428 c.122G>A p.R41Q Substitution - Missense 9:136943962-136943962 - TCGA-BP-4771-01 COSM3367649 c.250G>T p.E84* Substitution - Nonsense 9:136943450-136943450 - ESCC_BICR_052T COSM5434763 c.138G>C p.W46C Substitution - Missense 9:136943946-136943946 - TCGA-BS-A0UJ-01 COSM1106985 c.950A>C p.Q317P Substitution - Missense 9:136942192-136942192 - BHY COSM4592682 c.1043G>A p.S348N Substitution - Missense 9:136942099-136942099 - SJRHB011 COSM4776282 c.1283C>T p.A428V Substitution - Missense 9:136941425-136941425 - TCGA-BT-A20W-01 COSM422434 c.232G>T p.D78Y Substitution - Missense 9:136943468-136943468 - KPOPBR-60-T COSM5963751 c.354C>G p.I118M Substitution - Missense 9:136942941-136942941 - TCGA-AP-A0LM-01 COSM1106983 c.1409A>G p.D470G Substitution - Missense 9:136941299-136941299 - PR-00-1165 COSM244479 c.1182G>A p.A394A Substitution - coding silent 9:136941599-136941599 - YUMUL COSM5410775 c.777C>T p.R259R Substitution - coding silent 9:136942365-136942365 - T1194 COSM4684083 c.1360C>T p.R454W Substitution - Missense 9:136941348-136941348 - Pat_40_A COSM5875903 c.832C>T p.R278C Substitution - Missense 9:136942310-136942310 - TCGA-B5-A0JY-01 COSM1106988 c.603C>A p.L201L Substitution - coding silent 9:136942619-136942619 - CHC1754T COSM4792640 c.753G>A p.T251T Substitution - coding silent 9:136942389-136942389 - Gp5D COSM3216743 c.1202T>C p.I401T Substitution - Missense 9:136941579-136941579 - TCGA-DD-A11A-01 COSM4940346 c.1187A>G p.D396G Substitution - Missense 9:136941594-136941594 - TCGA-CG-4465-01 COSM3905902 c.1228C>A p.L410M Substitution - Missense 9:136941553-136941553 - TCGA-BS-A0UF-01 COSM1106986 c.896A>G p.K299R Substitution - Missense 9:136942246-136942246 - TCGA-FS-A1ZC-06 COSM3655886 c.1090C>T p.Q364* Substitution - Nonsense 9:136942052-136942052 - TCGA-BR-6455-01 COSM3905900 c.1410C>T p.D470D Substitution - coding silent 9:136941298-136941298 - T3152 COSM4684084 c.1284G>A p.A428A Substitution - coding silent 9:136941424-136941424 - TCGA-D1-A103-01 COSM1106980 c.1597G>A p.A533T Substitution - Missense 9:136941032-136941032 - T28 COSM5345750 c.643T>A p.C215S Substitution - Missense 9:136942579-136942579 - pfg068T COSM3926463 c.1385C>T p.A462V Substitution - Missense 9:136941323-136941323 - KM12 COSM4639276 c.1676C>T p.S559F Substitution - Missense 9:136940953-136940953 - 8016470 COSM3395683 c.1636G>A p.V546I Substitution - Missense 9:136940993-136940993 - TCGA-CM-4746-01 COSM1461255 c.1021C>T p.R341C Substitution - Missense 9:136942121-136942121 - TCGA-EE-A29D-06 COSM3655885 c.1248C>T p.Y416Y Substitution - coding silent 9:136941460-136941460 - QC2-19-T2 COSM5652700 c.1362G>T p.R454R Substitution - coding silent 9:136941346-136941346 - TCGA-B5-A0JV-01 COSM1106984 c.1049A>T p.Y350F Substitution - Missense 9:136942093-136942093 - 2293779 COSM4609834 c.573_574delGT p.F192fs*72 Deletion - Frameshift 9:136942648-136942649 - 35T COSM3716249 c.223C>A p.R75R Substitution - coding silent 9:136943477-136943477 - TCGA-37-4141-01 COSM753084 c.1450G>T p.V484L Substitution - Missense 9:136941258-136941258 - TCGA-66-2777-01 COSM753083 c.1318G>A p.A440T Substitution - Missense 9:136941390-136941390 - ESCC_BICR_051T COSM5444128 c.1619C>T p.S540F Substitution - Missense 9:136941010-136941010 - TCGA-F4-6856-01 COSM1461256 c.902G>A p.G301D Substitution - Missense 9:136942240-136942240 - HN_62506 COSM126699 c.497C>G p.S166* Substitution - Nonsense 9:136942798-136942798 - TCGA-EK-A3GK-01 COSM4853006 c.150C>T p.F50F Substitution - coding silent 9:136943934-136943934 - 61 COSM5738794 c.845T>C p.L282P Substitution - Missense 9:136942297-136942297 - 8069168 COSM4406608 c.1366G>T p.V456L Substitution - Missense 9:136941342-136941342 - TCGA-EK-A3GJ-01 COSM4852454 c.1101C>G p.I367M Substitution - Missense 9:136941680-136941680 - HT115 COSM3216768 c.258G>A p.Q86Q Substitution - coding silent 9:136943442-136943442 - ESCC-148T COSM3942963 c.1477G>A p.G493S Substitution - Missense 9:136941152-136941152 - Gp5D COSM3216766 c.270A>G p.E90E Substitution - coding silent 9:136943430-136943430 - T1154 COSM4684082 c.1400C>T p.T467M Substitution - Missense 9:136941308-136941308 - TCGA-DK-A3X1-01 COSM3779842 c.958G>C p.E320Q Substitution - Missense 9:136942184-136942184 - SNU-C2B COSM4651669 c.1181C>T p.A394V Substitution - Missense 9:136941600-136941600 - 7 COSM5732425 c.1459G>A p.G487R Substitution - Missense 9:136941170-136941170 - 0124_CRUK_PC_0124_T1_DNA COSM5420992 c.501C>T p.S167S Substitution - coding silent 9:136942794-136942794 - CSCC-44-T COSM4499626 c.546C>T p.S182S Substitution - coding silent 9:136942676-136942676 - T3049 COSM3216756 c.452C>T p.S151L Substitution - Missense 9:136942843-136942843 - TCGA-D1-A17Q-01 COSM1106982 c.1528G>A p.E510K Substitution - Missense 9:136941101-136941101 - Au2 COSM5599545 c.606C>T p.I202I Substitution - coding silent 9:136942616-136942616 - CSCC-42-T COSM4518965 c.897_898GG>AC p.E300Q Substitution - Missense 9:136942244-136942245 - T2948 COSM4684087 c.400C>T p.R134W Substitution - Missense 9:136942895-136942895 - TCGA-D1-A0ZS-01 COSM1106979 c.1615C>T p.R539C Substitution - Missense 9:136941014-136941014 - TCGA-BS-A0UV-01 COSM1106981 c.1593C>T p.D531D Substitution - coding silent 9:136941036-136941036 - ESCC_24 COSM5626517 c.1449C>T p.F483F Substitution - coding silent 9:136941259-136941259 - RK091_C01 COSM1636100 c.1344C>T p.F448F Substitution - coding silent 9:136941364-136941364 - CSCC-17-T COSM4550711 c.507G>A p.E169E Substitution - coding silent 9:136942788-136942788 - CHC1754T COSM4792640 c.753G>A p.T251T Substitution - coding silent 9:136942389-136942389 - 2492702 COSM5599545 c.606C>T p.I202I Substitution - coding silent 9:136942616-136942616 - SNU-C2B COSM4651670 c.828C>A p.P276P Substitution - coding silent 9:136942314-136942314 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.522507 9q34.3 609072

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.1698+68delT 9 139835315 CM C A Missense p.D78Y c.232G>T 9 139837920 BLCA C A Missense p.V484L c.1450G>T 9 139835710 LUSC C A Nonsense p.E84* c.250G>T 9 139837902 RCCC C T IntronicSNV . c.526+9G>A 9 139837212 STAD C T Missense p.A440T c.1318G>A 9 139835842 LUSC C T Missense p.E471K c.1411G>A 9 139835749 BRCA C T Synonymous p.E230E c.690G>A 9 139836904 HNSC C T Synonymous p.K347K c.1041G>A 9 139836553 CM G A Missense p.A462V c.1385C>T 9 139835775 CM G A Missense p.R539C c.1615C>T 9 139835466 UCEC G A Missense p.S126L c.377C>T 9 139837370 RCCC G A Nonsense p.Q364* c.1090C>T 9 139836504 CM G A Synonymous p.A223A c.669C>T 9 139837005 STAD G A Synonymous p.D470D c.1410C>T 9 139835750 STAD G C Missense p.L98V c.292C>G 9 139837860 BRCA G C Nonsense p.S166* c.497C>G 9 139837250 HNSC G T Missense p.L410M c.1228C>A 9 139836005 STAD T A Missense p.Y350F c.1049A>T 9 139836545 UCEC T C Missense p.N233S c.698A>G 9 139836896 LUAD