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 19 985942 985942 + Silent SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr19:985942G>A c.288G>A c.(286-288)ctG>ctA p.L96L BLCA 19 989795 989795 + Missense_Mutation SNP C C G TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr19:989795C>G c.355C>G c.(355-357)Cga>Gga p.R119G CESC 19 991247 991247 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr19:991247C>T c.827C>T c.(826-828)tCa>tTa p.S276L COAD 19 984407 984407 + Nonsense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:984407G>A c.54G>A c.(52-54)tgG>tgA p.W18* COAD 19 989857 989857 + Silent SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr19:989857G>A c.417G>A c.(415-417)ggG>ggA p.G139G COAD 19 990951 990951 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr19:990951G>A c.697G>A c.(697-699)Ggg>Agg p.G233R COADREAD 19 984407 984407 + Nonsense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:984407G>A c.54G>A c.(52-54)tgG>tgA p.W18* COADREAD 19 989857 989857 + Silent SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr19:989857G>A c.417G>A c.(415-417)ggG>ggA p.G139G COADREAD 19 990951 990951 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr19:990951G>A c.697G>A c.(697-699)Ggg>Agg p.G233R ESCA 19 991108 991108 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr19:991108C>A c.769C>A c.(769-771)Cca>Aca p.P257T ESCA 19 994323 994323 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr19:994323A>G c.1279A>G c.(1279-1281)Atc>Gtc p.I427V GBMLGG 19 991974 991974 + Silent SNP C C T TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr19:991974C>T c.951C>T c.(949-951)gcC>gcT p.A317A HNSC 19 985937 985937 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 g.chr19:985937G>A c.283G>A c.(283-285)Gtc>Atc p.V95I HNSC 19 989771 989771 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 g.chr19:989771G>A c.331G>A c.(331-333)Ggg>Agg p.G111R HNSC 19 990234 990234 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr19:990234C>A c.467C>A c.(466-468)gCc>gAc p.A156D KICH 19 984533 984533 + Silent SNP T T C TCGA-KN-8419-01A-11D-2310-10 TCGA-KN-8419-11A-01D-2310-10 g.chr19:984533T>C c.180T>C c.(178-180)aaT>aaC p.N60N KICH 19 984554 984554 + Silent SNP C C G TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr19:984554C>G c.201C>G c.(199-201)ctC>ctG p.L67L KIPAN 19 984377 984377 + Silent SNP C C T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr19:984377C>T c.24C>T c.(22-24)gcC>gcT p.A8A KIPAN 19 984533 984533 + Silent SNP T T C TCGA-KN-8419-01A-11D-2310-10 TCGA-KN-8419-11A-01D-2310-10 g.chr19:984533T>C c.180T>C c.(178-180)aaT>aaC p.N60N KIPAN 19 984554 984554 + Silent SNP C C G TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr19:984554C>G c.201C>G c.(199-201)ctC>ctG p.L67L KIPAN 19 990274 990274 + Silent SNP T T A TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr19:990274T>A c.507T>A c.(505-507)tcT>tcA p.S169S KIPAN 19 991092 991092 + Silent SNP G G A TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr19:991092G>A c.753G>A c.(751-753)agG>agA p.R251R KIPAN 19 992048 992048 + Missense_Mutation SNP A A G TCGA-DW-7842-01A-11D-2136-08 TCGA-DW-7842-10A-01D-2136-08 g.chr19:992048A>G c.1025A>G c.(1024-1026)cAc>cGc p.H342R KIPAN 19 994054 994056 + In_Frame_Del DEL GCT GCT - TCGA-5P-A9K2-01A-11D-A42J-10 TCGA-5P-A9K2-10A-01D-A42M-10 g.chr19:994054_994056delGCT c.1134_1136delGCT c.(1132-1137)cagctg>cag p.L379del KIPAN 19 994289 994289 + Silent SNP C C T TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr19:994289C>T c.1245C>T c.(1243-1245)atC>atT p.I415I KIRC 19 990274 990274 + Silent SNP T T A TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr19:990274T>A c.507T>A c.(505-507)tcT>tcA p.S169S KIRC 19 994289 994289 + Silent SNP C C T TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr19:994289C>T c.1245C>T c.(1243-1245)atC>atT p.I415I KIRP 19 984377 984377 + Silent SNP C C T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr19:984377C>T c.24C>T c.(22-24)gcC>gcT p.A8A KIRP 19 991092 991092 + Silent SNP G G A TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr19:991092G>A c.753G>A c.(751-753)agG>agA p.R251R KIRP 19 992048 992048 + Missense_Mutation SNP A A G TCGA-DW-7842-01A-11D-2136-08 TCGA-DW-7842-10A-01D-2136-08 g.chr19:992048A>G c.1025A>G c.(1024-1026)cAc>cGc p.H342R KIRP 19 994054 994056 + In_Frame_Del DEL GCT GCT - TCGA-5P-A9K2-01A-11D-A42J-10 TCGA-5P-A9K2-10A-01D-A42M-10 g.chr19:994054_994056delGCT c.1134_1136delGCT c.(1132-1137)cagctg>cag p.L379del LGG 19 991974 991974 + Silent SNP C C T TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr19:991974C>T c.951C>T c.(949-951)gcC>gcT p.A317A LIHC 19 985884 985884 + Missense_Mutation SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr19:985884T>C c.230T>C c.(229-231)aTc>aCc p.I77T LIHC 19 992023 992023 + Missense_Mutation SNP C C G TCGA-K7-AAU7-01A-11D-A382-10 TCGA-K7-AAU7-10A-01D-A385-10 g.chr19:992023C>G c.1000C>G c.(1000-1002)Ctg>Gtg p.L334V LUAD 19 992088 992088 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr19:992088G>T c.1065G>T c.(1063-1065)ggG>ggT p.G355G LUSC 19 994262 994262 + Silent SNP G G A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr19:994262G>A c.1218G>A c.(1216-1218)gaG>gaA p.E406E OV 19 991315 991315 + Missense_Mutation SNP C C G TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 g.chr19:991315C>G c.895C>G c.(895-897)Cag>Gag p.Q299E PAAD 19 990913 990913 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:990913C>A c.659C>A c.(658-660)gCa>gAa p.A220E PCPG 19 990349 990349 + Frame_Shift_Del DEL G G - TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 g.chr19:990349delG c.582delG c.(580-582)ctgfs p.L194fs PRAD 19 989795 989795 + Nonsense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:989795C>T c.355C>T c.(355-357)Cga>Tga p.R119* PRAD 19 990902 990902 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:990902G>A c.648G>A c.(646-648)gtG>gtA p.V216V SARC 19 985972 985972 + Missense_Mutation SNP G G T TCGA-MB-A5YA-01A-11D-A29N-09 TCGA-MB-A5YA-10A-01D-A29N-09 g.chr19:985972G>T c.318G>T c.(316-318)tgG>tgT p.W106C SARC 19 991345 991345 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 g.chr19:991345C>T c.925C>T c.(925-927)Ctc>Ttc p.L309F SKCM 19 989777 989777 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr19:989777C>T c.337C>T c.(337-339)Ctt>Ttt p.L113F SKCM 19 990243 990243 + Missense_Mutation SNP C C T TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr19:990243C>T c.476C>T c.(475-477)tCc>tTc p.S159F SKCM 19 990244 990244 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:990244C>T c.477C>T c.(475-477)tcC>tcT p.S159S SKCM 19 990989 990989 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:990989C>T c.735C>T c.(733-735)ttC>ttT p.F245F SKCM 19 990989 990989 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr19:990989C>T c.735C>T c.(733-735)ttC>ttT p.F245F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 19 978877 978877 single base substitution C T upstream_gene_variant BRCA-EU 19 980562 980562 single base substitution C T upstream_gene_variant BRCA-EU 19 982865 982865 single base substitution G T upstream_gene_variant BRCA-EU 19 983325 983325 single base substitution A G intron_variant BRCA-EU 19 983325 983325 single base substitution A G upstream_gene_variant BRCA-EU 19 983805 983805 single base substitution C G intron_variant BRCA-EU 19 983805 983805 single base substitution C G upstream_gene_variant BRCA-EU 19 984943 984943 single base substitution G C intron_variant BRCA-EU 19 984943 984943 single base substitution G C upstream_gene_variant BRCA-EU 19 985465 985465 single base substitution C T intron_variant BRCA-EU 19 985465 985465 single base substitution C T upstream_gene_variant BRCA-EU 19 987919 987919 single base substitution C T intron_variant BRCA-EU 19 987919 987919 single base substitution C T upstream_gene_variant BRCA-EU 19 988647 988647 single base substitution C T intron_variant BRCA-EU 19 988647 988647 single base substitution C T upstream_gene_variant BRCA-EU 19 989329 989329 single base substitution G A intron_variant BRCA-EU 19 989329 989329 single base substitution G A upstream_gene_variant BRCA-EU 19 990570 990570 single base substitution C T downstream_gene_variant BRCA-EU 19 990570 990570 single base substitution C T intron_variant BRCA-EU 19 990570 990570 single base substitution C T upstream_gene_variant BRCA-EU 19 993233 993233 single base substitution C T downstream_gene_variant BRCA-EU 19 993233 993233 single base substitution C T intron_variant BRCA-EU 19 993233 993233 single base substitution C T upstream_gene_variant BRCA-EU 19 996637 996637 single base substitution C G downstream_gene_variant BRCA-EU 19 997970 997970 single base substitution C T downstream_gene_variant BRCA-EU 19 997971 997971 single base substitution G A downstream_gene_variant BRCA-EU 19 999447 999447 single base substitution G T downstream_gene_variant BRCA-FR 19 984943 984943 single base substitution G C intron_variant BRCA-FR 19 984943 984943 single base substitution G C upstream_gene_variant BRCA-FR 19 988647 988647 single base substitution C T intron_variant BRCA-FR 19 988647 988647 single base substitution C T upstream_gene_variant BRCA-UK 19 981308 981308 single base substitution A C upstream_gene_variant BTCA-JP 19 984397 984397 single base substitution C T exon_variant BTCA-JP 19 984397 984397 single base substitution C T intron_variant BTCA-JP 19 984397 984397 single base substitution C T missense_variant A13V 38C>T BTCA-JP 19 984397 984397 single base substitution C T missense_variant A15V 44C>T BTCA-JP 19 984397 984397 single base substitution C T upstream_gene_variant BTCA-JP 19 984533 984533 single base substitution T C exon_variant BTCA-JP 19 984533 984533 single base substitution T C intron_variant BTCA-JP 19 984533 984533 single base substitution T C synonymous_variant N58N 174T>C BTCA-JP 19 984533 984533 single base substitution T C synonymous_variant N60N 180T>C BTCA-JP 19 984533 984533 single base substitution T C upstream_gene_variant BTCA-JP 19 984554 984554 single base substitution C G exon_variant BTCA-JP 19 984554 984554 single base substitution C G intron_variant BTCA-JP 19 984554 984554 single base substitution C G synonymous_variant L65L 195C>G BTCA-JP 19 984554 984554 single base substitution C G synonymous_variant L67L 201C>G BTCA-JP 19 984554 984554 single base substitution C G upstream_gene_variant BTCA-JP 19 984578 984578 single base substitution T G intron_variant BTCA-JP 19 984578 984578 single base substitution T G upstream_gene_variant BTCA-JP 19 990185 990185 single base substitution G C exon_variant BTCA-JP 19 990185 990185 single base substitution G C intron_variant BTCA-JP 19 990185 990185 single base substitution G C upstream_gene_variant BTCA-JP 19 991374 991374 single base substitution C T downstream_gene_variant BTCA-JP 19 991374 991374 single base substitution C T intron_variant BTCA-JP 19 991374 991374 single base substitution C T upstream_gene_variant BTCA-JP 19 994154 994154 single base substitution G A downstream_gene_variant BTCA-JP 19 994154 994154 single base substitution G A intron_variant CESC-US 19 991247 991247 single base substitution C T 3_prime_UTR_variant CESC-US 19 991247 991247 single base substitution C T downstream_gene_variant CESC-US 19 991247 991247 single base substitution C T exon_variant CESC-US 19 991247 991247 single base substitution C T missense_variant S237L 710C>T CESC-US 19 991247 991247 single base substitution C T missense_variant S276L 827C>T CESC-US 19 991247 991247 single base substitution C T missense_variant S5L 14C>T CESC-US 19 991247 991247 single base substitution C T upstream_gene_variant COAD-US 19 984407 984407 single base substitution G A exon_variant COAD-US 19 984407 984407 single base substitution G A intron_variant COAD-US 19 984407 984407 single base substitution G A stop_gained W16* 48G>A COAD-US 19 984407 984407 single base substitution G A stop_gained W18* 54G>A COAD-US 19 984407 984407 single base substitution G A upstream_gene_variant COAD-US 19 984533 984533 single base substitution T C exon_variant COAD-US 19 984533 984533 single base substitution T C intron_variant COAD-US 19 984533 984533 single base substitution T C synonymous_variant N58N 174T>C COAD-US 19 984533 984533 single base substitution T C synonymous_variant N60N 180T>C COAD-US 19 984533 984533 single base substitution T C upstream_gene_variant COAD-US 19 984537 984537 single base substitution A G exon_variant COAD-US 19 984537 984537 single base substitution A G intron_variant COAD-US 19 984537 984537 single base substitution A G missense_variant I60V 178A>G COAD-US 19 984537 984537 single base substitution A G missense_variant I62V 184A>G COAD-US 19 984537 984537 single base substitution A G upstream_gene_variant COAD-US 19 984554 984554 single base substitution C G exon_variant COAD-US 19 984554 984554 single base substitution C G intron_variant COAD-US 19 984554 984554 single base substitution C G synonymous_variant L65L 195C>G COAD-US 19 984554 984554 single base substitution C G synonymous_variant L67L 201C>G COAD-US 19 984554 984554 single base substitution C G upstream_gene_variant COAD-US 19 989857 989857 single base substitution G A 3_prime_UTR_variant COAD-US 19 989857 989857 single base substitution G A exon_variant COAD-US 19 989857 989857 single base substitution G A synonymous_variant G100G 300G>A COAD-US 19 989857 989857 single base substitution G A synonymous_variant G139G 417G>A COAD-US 19 989857 989857 single base substitution G A upstream_gene_variant COAD-US 19 990238 990238 single base substitution C T 3_prime_UTR_variant COAD-US 19 990238 990238 single base substitution C T exon_variant COAD-US 19 990238 990238 single base substitution C T synonymous_variant D118D 354C>T COAD-US 19 990238 990238 single base substitution C T synonymous_variant D157D 471C>T COAD-US 19 990238 990238 single base substitution C T upstream_gene_variant COAD-US 19 990281 990281 single base substitution G A 3_prime_UTR_variant COAD-US 19 990281 990281 single base substitution G A downstream_gene_variant COAD-US 19 990281 990281 single base substitution G A exon_variant COAD-US 19 990281 990281 single base substitution G A missense_variant A133T 397G>A COAD-US 19 990281 990281 single base substitution G A missense_variant A172T 514G>A COAD-US 19 990281 990281 single base substitution G A upstream_gene_variant COAD-US 19 990951 990951 single base substitution G A 3_prime_UTR_variant COAD-US 19 990951 990951 single base substitution G A downstream_gene_variant COAD-US 19 990951 990951 single base substitution G A exon_variant COAD-US 19 990951 990951 single base substitution G A missense_variant G194R 580G>A COAD-US 19 990951 990951 single base substitution G A missense_variant G233R 697G>A COAD-US 19 990951 990951 single base substitution G A splice_region_variant COAD-US 19 990951 990951 single base substitution G A upstream_gene_variant COAD-US 19 991083 991083 single base substitution C T 3_prime_UTR_variant COAD-US 19 991083 991083 single base substitution C T downstream_gene_variant COAD-US 19 991083 991083 single base substitution C T exon_variant COAD-US 19 991083 991083 single base substitution C T splice_region_variant COAD-US 19 991083 991083 single base substitution C T upstream_gene_variant COAD-US 19 991968 991968 single base substitution T C 3_prime_UTR_variant COAD-US 19 991968 991968 single base substitution T C downstream_gene_variant COAD-US 19 991968 991968 single base substitution T C intron_variant COAD-US 19 991968 991968 single base substitution T C synonymous_variant N276N 828T>C COAD-US 19 991968 991968 single base substitution T C synonymous_variant N315N 945T>C COAD-US 19 991968 991968 single base substitution T C upstream_gene_variant COAD-US 19 992028 992028 single base substitution G A 3_prime_UTR_variant COAD-US 19 992028 992028 single base substitution G A downstream_gene_variant COAD-US 19 992028 992028 single base substitution G A synonymous_variant P296P 888G>A COAD-US 19 992028 992028 single base substitution G A synonymous_variant P335P 1005G>A COAD-US 19 992028 992028 single base substitution G A upstream_gene_variant COCA-CN 19 990163 990163 single base substitution C T exon_variant COCA-CN 19 990163 990163 single base substitution C T intron_variant COCA-CN 19 990163 990163 single base substitution C T upstream_gene_variant COCA-CN 19 990294 990294 single base substitution C T 3_prime_UTR_variant COCA-CN 19 990294 990294 single base substitution C T downstream_gene_variant COCA-CN 19 990294 990294 single base substitution C T exon_variant COCA-CN 19 990294 990294 single base substitution C T missense_variant T137M 410C>T COCA-CN 19 990294 990294 single base substitution C T missense_variant T176M 527C>T COCA-CN 19 990294 990294 single base substitution C T upstream_gene_variant COCA-CN 19 991204 991204 single base substitution G C downstream_gene_variant COCA-CN 19 991204 991204 single base substitution G C intron_variant COCA-CN 19 991204 991204 single base substitution G C upstream_gene_variant COCA-CN 19 991341 991341 single base substitution G T 3_prime_UTR_variant COCA-CN 19 991341 991341 single base substitution G T downstream_gene_variant COCA-CN 19 991341 991341 single base substitution G T synonymous_variant V268V 804G>T COCA-CN 19 991341 991341 single base substitution G T synonymous_variant V307V 921G>T COCA-CN 19 991341 991341 single base substitution G T synonymous_variant V36V 108G>T COCA-CN 19 991341 991341 single base substitution G T upstream_gene_variant COCA-CN 19 992128 992128 single base substitution C T downstream_gene_variant COCA-CN 19 992128 992128 single base substitution C T splice_region_variant COCA-CN 19 992128 992128 single base substitution C T upstream_gene_variant COCA-CN 19 992249 992249 single base substitution G A downstream_gene_variant COCA-CN 19 992249 992249 single base substitution G A intron_variant COCA-CN 19 992249 992249 single base substitution G A upstream_gene_variant COCA-CN 19 994084 994084 single base substitution G T 3_prime_UTR_variant COCA-CN 19 994084 994084 single base substitution G T downstream_gene_variant COCA-CN 19 994084 994084 single base substitution G T exon_variant COCA-CN 19 994084 994084 single base substitution G T intron_variant COCA-CN 19 994084 994084 single base substitution G T missense_variant E349D 1047G>T COCA-CN 19 994084 994084 single base substitution G T missense_variant E388D 1164G>T EOPC-DE 19 990185 990185 single base substitution G C exon_variant EOPC-DE 19 990185 990185 single base substitution G C intron_variant EOPC-DE 19 990185 990185 single base substitution G C upstream_gene_variant ESAD-UK 19 981128 981128 single base substitution A G upstream_gene_variant ESAD-UK 19 993253 993253 single base substitution C T downstream_gene_variant ESAD-UK 19 993253 993253 single base substitution C T intron_variant ESAD-UK 19 993253 993253 single base substitution C T upstream_gene_variant ESAD-UK 19 994266 994266 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 994266 994266 single base substitution G A downstream_gene_variant ESAD-UK 19 994266 994266 single base substitution G A exon_variant ESAD-UK 19 994266 994266 single base substitution G A missense_variant E369K 1105G>A ESAD-UK 19 994266 994266 single base substitution G A missense_variant E385K 1153G>A ESAD-UK 19 994266 994266 single base substitution G A missense_variant E408K 1222G>A ESAD-UK 19 994422 994422 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 994422 994422 single base substitution C T downstream_gene_variant ESAD-UK 19 994422 994422 single base substitution C T exon_variant ESAD-UK 19 996624 996624 single base substitution G A downstream_gene_variant ESAD-UK 19 998062 998062 insertion of <=200bp - A downstream_gene_variant ESAD-UK 19 998516 998516 single base substitution T A downstream_gene_variant ESCA-CN 19 984218 984218 single base substitution C T intron_variant ESCA-CN 19 984218 984218 single base substitution C T upstream_gene_variant ESCA-CN 19 985997 985997 single base substitution C G intron_variant ESCA-CN 19 985997 985997 single base substitution C G upstream_gene_variant ESCA-CN 19 992079 992079 single base substitution G A 3_prime_UTR_variant ESCA-CN 19 992079 992079 single base substitution G A downstream_gene_variant ESCA-CN 19 992079 992079 single base substitution G A synonymous_variant P313P 939G>A ESCA-CN 19 992079 992079 single base substitution G A synonymous_variant P352P 1056G>A ESCA-CN 19 992079 992079 single base substitution G A upstream_gene_variant KIRC-US 19 990274 990274 single base substitution T A 3_prime_UTR_variant KIRC-US 19 990274 990274 single base substitution T A downstream_gene_variant KIRC-US 19 990274 990274 single base substitution T A exon_variant KIRC-US 19 990274 990274 single base substitution T A synonymous_variant S130S 390T>A KIRC-US 19 990274 990274 single base substitution T A synonymous_variant S169S 507T>A KIRC-US 19 990274 990274 single base substitution T A upstream_gene_variant KIRC-US 19 994289 994289 single base substitution C T 3_prime_UTR_variant KIRC-US 19 994289 994289 single base substitution C T downstream_gene_variant KIRC-US 19 994289 994289 single base substitution C T exon_variant KIRC-US 19 994289 994289 single base substitution C T synonymous_variant I376I 1128C>T KIRC-US 19 994289 994289 single base substitution C T synonymous_variant I392I 1176C>T KIRC-US 19 994289 994289 single base substitution C T synonymous_variant I415I 1245C>T KIRP-US 19 992048 992048 single base substitution A G 3_prime_UTR_variant KIRP-US 19 992048 992048 single base substitution A G downstream_gene_variant KIRP-US 19 992048 992048 single base substitution A G missense_variant H303R 908A>G KIRP-US 19 992048 992048 single base substitution A G missense_variant H342R 1025A>G KIRP-US 19 992048 992048 single base substitution A G upstream_gene_variant LAML-KR 19 978841 978841 single base substitution C T upstream_gene_variant LAML-KR 19 978847 978847 single base substitution A G upstream_gene_variant LAML-KR 19 979807 979807 single base substitution A C upstream_gene_variant LAML-KR 19 981308 981308 single base substitution A C upstream_gene_variant LAML-KR 19 981581 981581 single base substitution C T upstream_gene_variant LGG-US 19 991974 991974 single base substitution C T 3_prime_UTR_variant LGG-US 19 991974 991974 single base substitution C T downstream_gene_variant LGG-US 19 991974 991974 single base substitution C T intron_variant LGG-US 19 991974 991974 single base substitution C T synonymous_variant A278A 834C>T LGG-US 19 991974 991974 single base substitution C T synonymous_variant A317A 951C>T LGG-US 19 991974 991974 single base substitution C T upstream_gene_variant LICA-CN 19 991121 991121 single base substitution C G 3_prime_UTR_variant LICA-CN 19 991121 991121 single base substitution C G downstream_gene_variant LICA-CN 19 991121 991121 single base substitution C G exon_variant LICA-CN 19 991121 991121 single base substitution C G missense_variant A222G 665C>G LICA-CN 19 991121 991121 single base substitution C G missense_variant A261G 782C>G LICA-CN 19 991121 991121 single base substitution C G upstream_gene_variant LICA-CN 19 994253 994253 single base substitution G C 3_prime_UTR_variant LICA-CN 19 994253 994253 single base substitution G C downstream_gene_variant LICA-CN 19 994253 994253 single base substitution G C exon_variant LICA-CN 19 994253 994253 single base substitution G C synonymous_variant T364T 1092G>C LICA-CN 19 994253 994253 single base substitution G C synonymous_variant T380T 1140G>C LICA-CN 19 994253 994253 single base substitution G C synonymous_variant T403T 1209G>C LICA-FR 19 981308 981308 single base substitution A C upstream_gene_variant LICA-FR 19 991296 991296 single base substitution C A 3_prime_UTR_variant LICA-FR 19 991296 991296 single base substitution C A downstream_gene_variant LICA-FR 19 991296 991296 single base substitution C A exon_variant LICA-FR 19 991296 991296 single base substitution C A synonymous_variant T21T 63C>A LICA-FR 19 991296 991296 single base substitution C A synonymous_variant T253T 759C>A LICA-FR 19 991296 991296 single base substitution C A synonymous_variant T292T 876C>A LICA-FR 19 991296 991296 single base substitution C A upstream_gene_variant LIHC-US 19 990892 990892 single base substitution T C 3_prime_UTR_variant LIHC-US 19 990892 990892 single base substitution T C downstream_gene_variant LIHC-US 19 990892 990892 single base substitution T C exon_variant LIHC-US 19 990892 990892 single base substitution T C intron_variant LIHC-US 19 990892 990892 single base substitution T C missense_variant L174P 521T>C LIHC-US 19 990892 990892 single base substitution T C missense_variant L213P 638T>C LIHC-US 19 990892 990892 single base substitution T C upstream_gene_variant LIHC-US 19 994280 994280 single base substitution G A 3_prime_UTR_variant LIHC-US 19 994280 994280 single base substitution G A downstream_gene_variant LIHC-US 19 994280 994280 single base substitution G A exon_variant LIHC-US 19 994280 994280 single base substitution G A synonymous_variant L373L 1119G>A LIHC-US 19 994280 994280 single base substitution G A synonymous_variant L389L 1167G>A LIHC-US 19 994280 994280 single base substitution G A synonymous_variant L412L 1236G>A LINC-JP 19 989941 989941 single base substitution C T 3_prime_UTR_variant LINC-JP 19 989941 989941 single base substitution C T exon_variant LINC-JP 19 989941 989941 single base substitution C T intron_variant LINC-JP 19 989941 989941 single base substitution C T upstream_gene_variant LINC-JP 19 990235 990235 single base substitution C T 3_prime_UTR_variant LINC-JP 19 990235 990235 single base substitution C T exon_variant LINC-JP 19 990235 990235 single base substitution C T synonymous_variant A117A 351C>T LINC-JP 19 990235 990235 single base substitution C T synonymous_variant A156A 468C>T LINC-JP 19 990235 990235 single base substitution C T upstream_gene_variant LINC-JP 19 991200 991204 deletion of <=200bp CCAGG - downstream_gene_variant LINC-JP 19 991200 991204 deletion of <=200bp CCAGG - intron_variant LINC-JP 19 991200 991204 deletion of <=200bp CCAGG - upstream_gene_variant LIRI-JP 19 983120 983120 single base substitution G T upstream_gene_variant LIRI-JP 19 991954 991954 single base substitution G C downstream_gene_variant LIRI-JP 19 991954 991954 single base substitution G C intron_variant LIRI-JP 19 991954 991954 single base substitution G C splice_acceptor_variant LIRI-JP 19 991954 991954 single base substitution G C upstream_gene_variant LIRI-JP 19 993114 993114 single base substitution A G downstream_gene_variant LIRI-JP 19 993114 993114 single base substitution A G intron_variant LIRI-JP 19 993114 993114 single base substitution A G upstream_gene_variant LIRI-JP 19 993735 993735 single base substitution T C downstream_gene_variant LIRI-JP 19 993735 993735 single base substitution T C intron_variant LIRI-JP 19 993735 993735 single base substitution T C upstream_gene_variant LIRI-JP 19 993736 993736 single base substitution G T downstream_gene_variant LIRI-JP 19 993736 993736 single base substitution G T intron_variant LIRI-JP 19 993736 993736 single base substitution G T upstream_gene_variant LIRI-JP 19 995487 995487 single base substitution A T downstream_gene_variant LUSC-KR 19 979669 979669 single base substitution C T upstream_gene_variant LUSC-KR 19 984401 984401 single base substitution G C exon_variant LUSC-KR 19 984401 984401 single base substitution G C intron_variant LUSC-KR 19 984401 984401 single base substitution G C synonymous_variant P14P 42G>C LUSC-KR 19 984401 984401 single base substitution G C synonymous_variant P16P 48G>C LUSC-KR 19 984401 984401 single base substitution G C upstream_gene_variant LUSC-KR 19 991648 991648 single base substitution A G downstream_gene_variant LUSC-KR 19 991648 991648 single base substitution A G intron_variant LUSC-KR 19 991648 991648 single base substitution A G upstream_gene_variant LUSC-KR 19 991908 991908 single base substitution T G downstream_gene_variant LUSC-KR 19 991908 991908 single base substitution T G intron_variant LUSC-KR 19 991908 991908 single base substitution T G upstream_gene_variant LUSC-US 19 994262 994262 single base substitution G A 3_prime_UTR_variant LUSC-US 19 994262 994262 single base substitution G A downstream_gene_variant LUSC-US 19 994262 994262 single base substitution G A exon_variant LUSC-US 19 994262 994262 single base substitution G A synonymous_variant E367E 1101G>A LUSC-US 19 994262 994262 single base substitution G A synonymous_variant E383E 1149G>A LUSC-US 19 994262 994262 single base substitution G A synonymous_variant E406E 1218G>A MALY-DE 19 982226 982226 single base substitution A C upstream_gene_variant MALY-DE 19 986639 986639 single base substitution C T intron_variant MALY-DE 19 986639 986639 single base substitution C T upstream_gene_variant MALY-DE 19 993225 993225 single base substitution C T downstream_gene_variant MALY-DE 19 993225 993225 single base substitution C T intron_variant MALY-DE 19 993225 993225 single base substitution C T upstream_gene_variant MALY-DE 19 995644 995644 single base substitution G T downstream_gene_variant MELA-AU 19 979666 979666 single base substitution C T upstream_gene_variant MELA-AU 19 980313 980313 single base substitution C T upstream_gene_variant MELA-AU 19 980461 980461 single base substitution G A upstream_gene_variant MELA-AU 19 980523 980523 single base substitution C T upstream_gene_variant MELA-AU 19 981579 981579 single base substitution T C upstream_gene_variant MELA-AU 19 981884 981884 single base substitution G A upstream_gene_variant MELA-AU 19 981994 981994 single base substitution C T upstream_gene_variant MELA-AU 19 983246 983246 single base substitution A G exon_variant MELA-AU 19 983246 983246 single base substitution A G upstream_gene_variant MELA-AU 19 984317 984317 single base substitution C T intron_variant MELA-AU 19 984317 984317 single base substitution C T upstream_gene_variant MELA-AU 19 984365 984365 single base substitution C T exon_variant MELA-AU 19 984365 984365 single base substitution C T intron_variant MELA-AU 19 984365 984365 single base substitution C T synonymous_variant P2P 6C>T MELA-AU 19 984365 984365 single base substitution C T synonymous_variant P4P 12C>T MELA-AU 19 984365 984365 single base substitution C T upstream_gene_variant MELA-AU 19 985061 985061 single base substitution C T intron_variant MELA-AU 19 985061 985061 single base substitution C T upstream_gene_variant MELA-AU 19 985479 985479 single base substitution C T intron_variant MELA-AU 19 985479 985479 single base substitution C T upstream_gene_variant MELA-AU 19 985579 985579 single base substitution C T intron_variant MELA-AU 19 985579 985579 single base substitution C T upstream_gene_variant MELA-AU 19 986157 986157 single base substitution C T intron_variant MELA-AU 19 986157 986157 single base substitution C T upstream_gene_variant MELA-AU 19 986190 986191 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 986190 986191 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 986361 986361 single base substitution C T intron_variant MELA-AU 19 986361 986361 single base substitution C T upstream_gene_variant MELA-AU 19 986465 986465 single base substitution C T intron_variant MELA-AU 19 986465 986465 single base substitution C T upstream_gene_variant MELA-AU 19 986615 986615 single base substitution C T intron_variant MELA-AU 19 986615 986615 single base substitution C T upstream_gene_variant MELA-AU 19 987661 987661 single base substitution C T intron_variant MELA-AU 19 987661 987661 single base substitution C T upstream_gene_variant MELA-AU 19 988072 988072 single base substitution C T intron_variant MELA-AU 19 988072 988072 single base substitution C T upstream_gene_variant MELA-AU 19 988087 988087 single base substitution C T intron_variant MELA-AU 19 988087 988087 single base substitution C T upstream_gene_variant MELA-AU 19 988339 988339 single base substitution C T intron_variant MELA-AU 19 988339 988339 single base substitution C T upstream_gene_variant MELA-AU 19 988695 988696 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 988695 988696 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 988797 988797 single base substitution G C intron_variant MELA-AU 19 988797 988797 single base substitution G C upstream_gene_variant MELA-AU 19 988979 988979 single base substitution C T intron_variant MELA-AU 19 988979 988979 single base substitution C T upstream_gene_variant MELA-AU 19 989375 989375 single base substitution C T intron_variant MELA-AU 19 989375 989375 single base substitution C T upstream_gene_variant MELA-AU 19 989625 989625 single base substitution C T intron_variant MELA-AU 19 989625 989625 single base substitution C T upstream_gene_variant MELA-AU 19 989749 989749 single base substitution C T intron_variant MELA-AU 19 989749 989749 single base substitution C T upstream_gene_variant MELA-AU 19 989970 989970 single base substitution C T 3_prime_UTR_variant MELA-AU 19 989970 989970 single base substitution C T exon_variant MELA-AU 19 989970 989970 single base substitution C T intron_variant MELA-AU 19 989970 989970 single base substitution C T upstream_gene_variant MELA-AU 19 990293 990294 multiple base substitution (>=2bp and <=200bp) AC TT 3_prime_UTR_variant MELA-AU 19 990293 990294 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 19 990293 990294 multiple base substitution (>=2bp and <=200bp) AC TT exon_variant MELA-AU 19 990293 990294 multiple base substitution (>=2bp and <=200bp) AC TT missense_variant T137L 409AC>TT MELA-AU 19 990293 990294 multiple base substitution (>=2bp and <=200bp) AC TT missense_variant T176L 526AC>TT MELA-AU 19 990293 990294 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 19 990449 990449 single base substitution C T downstream_gene_variant MELA-AU 19 990449 990449 single base substitution C T intron_variant MELA-AU 19 990449 990449 single base substitution C T upstream_gene_variant MELA-AU 19 990792 990792 single base substitution C T downstream_gene_variant MELA-AU 19 990792 990792 single base substitution C T exon_variant MELA-AU 19 990792 990792 single base substitution C T intron_variant MELA-AU 19 990792 990792 single base substitution C T upstream_gene_variant MELA-AU 19 990813 990813 single base substitution C T downstream_gene_variant MELA-AU 19 990813 990813 single base substitution C T exon_variant MELA-AU 19 990813 990813 single base substitution C T intron_variant MELA-AU 19 990813 990813 single base substitution C T upstream_gene_variant MELA-AU 19 992130 992131 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 992130 992131 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 992130 992131 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 992221 992221 single base substitution G A downstream_gene_variant MELA-AU 19 992221 992221 single base substitution G A intron_variant MELA-AU 19 992221 992221 single base substitution G A upstream_gene_variant MELA-AU 19 992677 992677 single base substitution C T downstream_gene_variant MELA-AU 19 992677 992677 single base substitution C T intron_variant MELA-AU 19 992677 992677 single base substitution C T upstream_gene_variant MELA-AU 19 992763 992763 single base substitution C T downstream_gene_variant MELA-AU 19 992763 992763 single base substitution C T intron_variant MELA-AU 19 992763 992763 single base substitution C T upstream_gene_variant MELA-AU 19 992861 992861 single base substitution C T downstream_gene_variant MELA-AU 19 992861 992861 single base substitution C T intron_variant MELA-AU 19 992861 992861 single base substitution C T upstream_gene_variant MELA-AU 19 992890 992890 single base substitution C T downstream_gene_variant MELA-AU 19 992890 992890 single base substitution C T intron_variant MELA-AU 19 992890 992890 single base substitution C T upstream_gene_variant MELA-AU 19 993398 993399 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 993398 993399 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 993398 993399 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 993633 993633 single base substitution C T downstream_gene_variant MELA-AU 19 993633 993633 single base substitution C T intron_variant MELA-AU 19 993633 993633 single base substitution C T upstream_gene_variant MELA-AU 19 993749 993749 single base substitution C T downstream_gene_variant MELA-AU 19 993749 993749 single base substitution C T intron_variant MELA-AU 19 993749 993749 single base substitution C T upstream_gene_variant MELA-AU 19 993907 993907 single base substitution C G downstream_gene_variant MELA-AU 19 993907 993907 single base substitution C G intron_variant MELA-AU 19 993907 993907 single base substitution C G upstream_gene_variant MELA-AU 19 994473 994473 single base substitution C T 3_prime_UTR_variant MELA-AU 19 994473 994473 single base substitution C T downstream_gene_variant MELA-AU 19 994473 994473 single base substitution C T exon_variant MELA-AU 19 994563 994563 single base substitution C T 3_prime_UTR_variant MELA-AU 19 994563 994563 single base substitution C T downstream_gene_variant MELA-AU 19 994565 994565 single base substitution C T 3_prime_UTR_variant MELA-AU 19 994565 994565 single base substitution C T downstream_gene_variant MELA-AU 19 994686 994686 single base substitution A G downstream_gene_variant MELA-AU 19 994785 994785 single base substitution C T downstream_gene_variant MELA-AU 19 994973 994973 single base substitution C T downstream_gene_variant MELA-AU 19 994975 994975 single base substitution C T downstream_gene_variant MELA-AU 19 995208 995208 single base substitution C T downstream_gene_variant MELA-AU 19 995723 995723 single base substitution C T downstream_gene_variant MELA-AU 19 995912 995912 single base substitution C T downstream_gene_variant MELA-AU 19 996302 996302 single base substitution A G downstream_gene_variant MELA-AU 19 996695 996695 single base substitution G A downstream_gene_variant MELA-AU 19 997323 997323 single base substitution G A downstream_gene_variant MELA-AU 19 997456 997457 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 997500 997500 single base substitution G A downstream_gene_variant MELA-AU 19 998215 998215 single base substitution G A downstream_gene_variant MELA-AU 19 998235 998235 single base substitution G A downstream_gene_variant MELA-AU 19 998427 998427 single base substitution T A downstream_gene_variant MELA-AU 19 998540 998540 single base substitution C T downstream_gene_variant MELA-AU 19 999202 999202 single base substitution C T downstream_gene_variant MELA-AU 19 999237 999237 single base substitution C T downstream_gene_variant ORCA-IN 19 984400 984400 single base substitution C A exon_variant ORCA-IN 19 984400 984400 single base substitution C A intron_variant ORCA-IN 19 984400 984400 single base substitution C A missense_variant P14Q 41C>A ORCA-IN 19 984400 984400 single base substitution C A missense_variant P16Q 47C>A ORCA-IN 19 984400 984400 single base substitution C A upstream_gene_variant ORCA-IN 19 991297 991297 single base substitution G A 3_prime_UTR_variant ORCA-IN 19 991297 991297 single base substitution G A downstream_gene_variant ORCA-IN 19 991297 991297 single base substitution G A exon_variant ORCA-IN 19 991297 991297 single base substitution G A missense_variant V22M 64G>A ORCA-IN 19 991297 991297 single base substitution G A missense_variant V254M 760G>A ORCA-IN 19 991297 991297 single base substitution G A missense_variant V293M 877G>A ORCA-IN 19 991297 991297 single base substitution G A upstream_gene_variant OV-AU 19 985398 985398 single base substitution G C intron_variant OV-AU 19 985398 985398 single base substitution G C upstream_gene_variant OV-AU 19 988612 988612 single base substitution A T intron_variant OV-AU 19 988612 988612 single base substitution A T upstream_gene_variant OV-AU 19 998713 998713 single base substitution G A downstream_gene_variant PACA-AU 19 979467 979467 single base substitution C T upstream_gene_variant PACA-AU 19 980065 980065 single base substitution T G upstream_gene_variant PACA-AU 19 988264 988264 single base substitution C T intron_variant PACA-AU 19 988264 988264 single base substitution C T upstream_gene_variant PACA-AU 19 990720 990720 single base substitution G A downstream_gene_variant PACA-AU 19 990720 990720 single base substitution G A exon_variant PACA-AU 19 990720 990720 single base substitution G A intron_variant PACA-AU 19 990720 990720 single base substitution G A upstream_gene_variant PACA-CA 19 982231 982231 single base substitution C G upstream_gene_variant PACA-CA 19 987691 987691 single base substitution G A intron_variant PACA-CA 19 987691 987691 single base substitution G A upstream_gene_variant PACA-CA 19 988575 988575 single base substitution G A intron_variant PACA-CA 19 988575 988575 single base substitution G A upstream_gene_variant PACA-CA 19 990224 990224 single base substitution G A exon_variant PACA-CA 19 990224 990224 single base substitution G A missense_variant V114M 340G>A PACA-CA 19 990224 990224 single base substitution G A missense_variant V153M 457G>A PACA-CA 19 990224 990224 single base substitution G A splice_region_variant PACA-CA 19 990224 990224 single base substitution G A upstream_gene_variant PACA-CA 19 992616 992616 single base substitution G A downstream_gene_variant PACA-CA 19 992616 992616 single base substitution G A intron_variant PACA-CA 19 992616 992616 single base substitution G A upstream_gene_variant PACA-CA 19 995833 995833 deletion of <=200bp G - downstream_gene_variant PACA-CA 19 997275 997275 single base substitution G A downstream_gene_variant PAEN-AU 19 999499 999499 single base substitution G A downstream_gene_variant PBCA-DE 19 983921 983921 single base substitution G A intron_variant PBCA-DE 19 983921 983921 single base substitution G A upstream_gene_variant PBCA-DE 19 990031 990031 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE 19 990031 990031 insertion of <=200bp - T exon_variant PBCA-DE 19 990031 990031 insertion of <=200bp - T intron_variant PBCA-DE 19 990031 990031 insertion of <=200bp - T upstream_gene_variant PRAD-CA 19 994802 994802 single base substitution C T downstream_gene_variant PRAD-CA 19 997275 997275 single base substitution G A downstream_gene_variant PRAD-CA 19 997302 997302 single base substitution G T downstream_gene_variant PRAD-UK 19 995033 995033 single base substitution G A downstream_gene_variant READ-US 19 984533 984533 single base substitution T C exon_variant READ-US 19 984533 984533 single base substitution T C intron_variant READ-US 19 984533 984533 single base substitution T C synonymous_variant N58N 174T>C READ-US 19 984533 984533 single base substitution T C synonymous_variant N60N 180T>C READ-US 19 984533 984533 single base substitution T C upstream_gene_variant READ-US 19 984554 984554 single base substitution C G exon_variant READ-US 19 984554 984554 single base substitution C G intron_variant READ-US 19 984554 984554 single base substitution C G synonymous_variant L65L 195C>G READ-US 19 984554 984554 single base substitution C G synonymous_variant L67L 201C>G READ-US 19 984554 984554 single base substitution C G upstream_gene_variant READ-US 19 990238 990238 single base substitution C T 3_prime_UTR_variant READ-US 19 990238 990238 single base substitution C T exon_variant READ-US 19 990238 990238 single base substitution C T synonymous_variant D118D 354C>T READ-US 19 990238 990238 single base substitution C T synonymous_variant D157D 471C>T READ-US 19 990238 990238 single base substitution C T upstream_gene_variant READ-US 19 991968 991968 single base substitution T C 3_prime_UTR_variant READ-US 19 991968 991968 single base substitution T C downstream_gene_variant READ-US 19 991968 991968 single base substitution T C intron_variant READ-US 19 991968 991968 single base substitution T C synonymous_variant N276N 828T>C READ-US 19 991968 991968 single base substitution T C synonymous_variant N315N 945T>C READ-US 19 991968 991968 single base substitution T C upstream_gene_variant RECA-EU 19 997314 997314 single base substitution C T downstream_gene_variant SKCA-BR 19 978662 978662 single base substitution C T upstream_gene_variant SKCA-BR 19 984328 984328 single base substitution A T intron_variant SKCA-BR 19 984328 984328 single base substitution A T upstream_gene_variant SKCA-BR 19 984330 984330 single base substitution G T intron_variant SKCA-BR 19 984330 984330 single base substitution G T upstream_gene_variant SKCA-BR 19 988175 988175 single base substitution T C intron_variant SKCA-BR 19 988175 988175 single base substitution T C upstream_gene_variant SKCA-BR 19 988395 988395 single base substitution C T intron_variant SKCA-BR 19 988395 988395 single base substitution C T upstream_gene_variant SKCA-BR 19 988396 988396 single base substitution C T intron_variant SKCA-BR 19 988396 988396 single base substitution C T upstream_gene_variant SKCA-BR 19 989026 989026 single base substitution A C intron_variant SKCA-BR 19 989026 989026 single base substitution A C upstream_gene_variant SKCA-BR 19 991171 991171 single base substitution G T downstream_gene_variant SKCA-BR 19 991171 991171 single base substitution G T intron_variant SKCA-BR 19 991171 991171 single base substitution G T upstream_gene_variant SKCA-BR 19 991378 991378 single base substitution G A downstream_gene_variant SKCA-BR 19 991378 991378 single base substitution G A intron_variant SKCA-BR 19 991378 991378 single base substitution G A upstream_gene_variant SKCA-BR 19 991968 991968 single base substitution T C 3_prime_UTR_variant SKCA-BR 19 991968 991968 single base substitution T C downstream_gene_variant SKCA-BR 19 991968 991968 single base substitution T C intron_variant SKCA-BR 19 991968 991968 single base substitution T C synonymous_variant N276N 828T>C SKCA-BR 19 991968 991968 single base substitution T C synonymous_variant N315N 945T>C SKCA-BR 19 991968 991968 single base substitution T C upstream_gene_variant SKCA-BR 19 993951 993951 single base substitution T G downstream_gene_variant SKCA-BR 19 993951 993951 single base substitution T G intron_variant SKCA-BR 19 993951 993951 single base substitution T G upstream_gene_variant SKCA-BR 19 993955 993955 single base substitution A G downstream_gene_variant SKCA-BR 19 993955 993955 single base substitution A G intron_variant SKCA-BR 19 993955 993955 single base substitution A G upstream_gene_variant SKCA-BR 19 994384 994384 single base substitution C T 3_prime_UTR_variant SKCA-BR 19 994384 994384 single base substitution C T downstream_gene_variant SKCA-BR 19 994384 994384 single base substitution C T exon_variant SKCA-BR 19 995023 995023 single base substitution C T downstream_gene_variant SKCA-BR 19 995211 995211 single base substitution C T downstream_gene_variant SKCA-BR 19 995335 995335 single base substitution C T downstream_gene_variant SKCA-BR 19 995640 995640 single base substitution A G downstream_gene_variant SKCA-BR 19 995903 995903 single base substitution C T downstream_gene_variant SKCA-BR 19 996368 996368 single base substitution C T downstream_gene_variant SKCA-BR 19 996566 996566 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 19 997437 997437 single base substitution G A downstream_gene_variant SKCA-BR 19 998687 998687 single base substitution C T downstream_gene_variant SKCA-BR 19 998798 998798 single base substitution T C downstream_gene_variant SKCA-BR 19 998884 998888 deletion of <=200bp GGTGT - downstream_gene_variant SKCA-BR 19 998922 998924 deletion of <=200bp TGA - downstream_gene_variant SKCA-BR 19 999049 999049 single base substitution G A downstream_gene_variant SKCM-US 19 989777 989777 single base substitution C T exon_variant SKCM-US 19 989777 989777 single base substitution C T missense_variant L113F 337C>T SKCM-US 19 989777 989777 single base substitution C T missense_variant L74F 220C>T SKCM-US 19 989777 989777 single base substitution C T upstream_gene_variant SKCM-US 19 990243 990243 single base substitution C T 3_prime_UTR_variant SKCM-US 19 990243 990243 single base substitution C T exon_variant SKCM-US 19 990243 990243 single base substitution C T missense_variant S120F 359C>T SKCM-US 19 990243 990243 single base substitution C T missense_variant S159F 476C>T SKCM-US 19 990243 990243 single base substitution C T upstream_gene_variant SKCM-US 19 990244 990244 single base substitution C T 3_prime_UTR_variant SKCM-US 19 990244 990244 single base substitution C T exon_variant SKCM-US 19 990244 990244 single base substitution C T synonymous_variant S120S 360C>T SKCM-US 19 990244 990244 single base substitution C T synonymous_variant S159S 477C>T SKCM-US 19 990244 990244 single base substitution C T upstream_gene_variant SKCM-US 19 990989 990989 single base substitution C T 3_prime_UTR_variant SKCM-US 19 990989 990989 single base substitution C T downstream_gene_variant SKCM-US 19 990989 990989 single base substitution C T exon_variant SKCM-US 19 990989 990989 single base substitution C T synonymous_variant F206F 618C>T SKCM-US 19 990989 990989 single base substitution C T synonymous_variant F245F 735C>T SKCM-US 19 990989 990989 single base substitution C T upstream_gene_variant SKCM-US 19 994337 994337 single base substitution C T 3_prime_UTR_variant SKCM-US 19 994337 994337 single base substitution C T downstream_gene_variant SKCM-US 19 994337 994337 single base substitution C T exon_variant SKCM-US 19 994337 994337 single base substitution C T synonymous_variant A392A 1176C>T SKCM-US 19 994337 994337 single base substitution C T synonymous_variant A408A 1224C>T SKCM-US 19 994337 994337 single base substitution C T synonymous_variant A431A 1293C>T STAD-US 19 984397 984397 single base substitution C T exon_variant STAD-US 19 984397 984397 single base substitution C T intron_variant STAD-US 19 984397 984397 single base substitution C T missense_variant A13V 38C>T STAD-US 19 984397 984397 single base substitution C T missense_variant A15V 44C>T STAD-US 19 984397 984397 single base substitution C T upstream_gene_variant STAD-US 19 990308 990308 single base substitution G A 3_prime_UTR_variant STAD-US 19 990308 990308 single base substitution G A downstream_gene_variant STAD-US 19 990308 990308 single base substitution G A exon_variant STAD-US 19 990308 990308 single base substitution G A missense_variant G142S 424G>A STAD-US 19 990308 990308 single base substitution G A missense_variant G181S 541G>A STAD-US 19 990308 990308 single base substitution G A upstream_gene_variant STAD-US 19 991989 991989 single base substitution C T 3_prime_UTR_variant STAD-US 19 991989 991989 single base substitution C T downstream_gene_variant STAD-US 19 991989 991989 single base substitution C T splice_region_variant STAD-US 19 991989 991989 single base substitution C T synonymous_variant P283P 849C>T STAD-US 19 991989 991989 single base substitution C T synonymous_variant P322P 966C>T STAD-US 19 991989 991989 single base substitution C T upstream_gene_variant STAD-US 19 992107 992107 single base substitution G A 3_prime_UTR_variant STAD-US 19 992107 992107 single base substitution G A downstream_gene_variant STAD-US 19 992107 992107 single base substitution G A missense_variant G323S 967G>A STAD-US 19 992107 992107 single base substitution G A missense_variant G362S 1084G>A STAD-US 19 992107 992107 single base substitution G A upstream_gene_variant STAD-US 19 994293 994293 single base substitution C T 3_prime_UTR_variant STAD-US 19 994293 994293 single base substitution C T downstream_gene_variant STAD-US 19 994293 994293 single base substitution C T exon_variant STAD-US 19 994293 994293 single base substitution C T missense_variant R378W 1132C>T STAD-US 19 994293 994293 single base substitution C T missense_variant R394W 1180C>T STAD-US 19 994293 994293 single base substitution C T missense_variant R417W 1249C>T THCA-SA 19 984533 984533 single base substitution T C exon_variant THCA-SA 19 984533 984533 single base substitution T C intron_variant THCA-SA 19 984533 984533 single base substitution T C synonymous_variant N58N 174T>C THCA-SA 19 984533 984533 single base substitution T C synonymous_variant N60N 180T>C THCA-SA 19 984533 984533 single base substitution T C upstream_gene_variant THCA-SA 19 984554 984554 single base substitution C G exon_variant THCA-SA 19 984554 984554 single base substitution C G intron_variant THCA-SA 19 984554 984554 single base substitution C G synonymous_variant L65L 195C>G THCA-SA 19 984554 984554 single base substitution C G synonymous_variant L67L 201C>G THCA-SA 19 984554 984554 single base substitution C G upstream_gene_variant UCEC-US 19 985937 985937 single base substitution G A exon_variant UCEC-US 19 985937 985937 single base substitution G A intron_variant UCEC-US 19 985937 985937 single base substitution G A missense_variant V95I 283G>A UCEC-US 19 985937 985937 single base substitution G A upstream_gene_variant UCEC-US 19 990980 990980 single base substitution C T 3_prime_UTR_variant UCEC-US 19 990980 990980 single base substitution C T downstream_gene_variant UCEC-US 19 990980 990980 single base substitution C T exon_variant UCEC-US 19 990980 990980 single base substitution C T synonymous_variant V203V 609C>T UCEC-US 19 990980 990980 single base substitution C T synonymous_variant V242V 726C>T UCEC-US 19 990980 990980 single base substitution C T upstream_gene_variant UCEC-US 19 991240 991240 single base substitution T C 3_prime_UTR_variant UCEC-US 19 991240 991240 single base substitution T C downstream_gene_variant UCEC-US 19 991240 991240 single base substitution T C exon_variant UCEC-US 19 991240 991240 single base substitution T C missense_variant C235R 703T>C UCEC-US 19 991240 991240 single base substitution T C missense_variant C274R 820T>C UCEC-US 19 991240 991240 single base substitution T C missense_variant C3R 7T>C UCEC-US 19 991240 991240 single base substitution T C upstream_gene_variant UCEC-US 19 991256 991256 single base substitution C T 3_prime_UTR_variant UCEC-US 19 991256 991256 single base substitution C T downstream_gene_variant UCEC-US 19 991256 991256 single base substitution C T exon_variant UCEC-US 19 991256 991256 single base substitution C T missense_variant T240I 719C>T UCEC-US 19 991256 991256 single base substitution C T missense_variant T279I 836C>T UCEC-US 19 991256 991256 single base substitution C T missense_variant T8I 23C>T UCEC-US 19 991256 991256 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 TCGA-B0-4710-01 COSM475648 c.1245C>T p.I415I Substitution - coding silent 19:994290-994290 + TCGA-F5-6702-01 COSM3749583 c.180T>C p.N60N Substitution - coding silent 19:984533-984533 + LS180 COSM2702418 c.624G>C p.L208L Substitution - coding silent 19:990878-990878 + TCGA-CS-4942-01 COSM3971450 c.951C>T p.A317A Substitution - coding silent 19:991974-991974 + LUAD-NYU315 COSM373607 c.249C>T p.V83V Substitution - coding silent 19:985903-985903 + TCGA-QB-A6FS-06 COSM3894359 c.735C>T p.F245F Substitution - coding silent 19:990989-990989 + TCGA-CI-6624-01 COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + TCGA-CI-6624-01 COSM3749583 c.180T>C p.N60N Substitution - coding silent 19:984533-984533 + I2L-P19Tb-Tumor-Biopsy COSM5365227 c.563G>A p.R188Q Substitution - Missense 19:990330-990330 + TCGA-AD-6964-01 COSM3693290 c.1005G>A p.P335P Substitution - coding silent 19:992028-992028 + TCGA-BP-4971-01 COSM475646 c.507T>A p.S169S Substitution - coding silent 19:990274-990274 + 18T COSM110292 c.405C>T p.H135H Substitution - coding silent 19:989845-989845 + HCC068T COSM5824139 c.1209G>C p.T403T Substitution - coding silent 19:994254-994254 + TCGA-D5-6928-01 COSM1398284 c.54G>A p.W18* Substitution - Nonsense 19:984407-984407 + TCGA-AG-4022-01 COSM3749583 c.180T>C p.N60N Substitution - coding silent 19:984533-984533 + TCGA-BR-8078-01 COSM4083669 c.541G>A p.G181S Substitution - Missense 19:990308-990308 + Pat_01_A COSM5857380 c.11_12CC>TT p.P4L Substitution - Missense 19:984364-984365 + BD87T COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + BD6T COSM4083666 c.44C>T p.A15V Substitution - Missense 19:984397-984397 + 3_RESISTANT COSM1723768 c.337C>T p.L113F Substitution - Missense 19:989777-989777 + T3262 COSM1004374 c.726C>T p.V242V Substitution - coding silent 19:990980-990980 + TCGA-AB-2885-03 COSM1318209 c.427T>A p.C143S Substitution - Missense 19:989867-989867 + A3 COSM5350560 c.602G>T p.W201L Substitution - Missense 19:990856-990856 + RK308_C01 COSM3743229 c.932-1G>C p.? Unknown 19:991954-991954 + TCGA-36-2547-01 COSM1326049 c.895C>G p.Q299E Substitution - Missense 19:991315-991315 + TCGA-AA-3712-01 COSM3749583 c.180T>C p.N60N Substitution - coding silent 19:984533-984533 + C086 COSM5541703 c.632C>T p.S211F Substitution - Missense 19:990886-990886 + TCGA-FW-A3R5-06 COSM3894359 c.735C>T p.F245F Substitution - coding silent 19:990989-990989 + TCGA-AG-4022-01 COSM3749586 c.945T>C p.N315N Substitution - coding silent 19:991968-991968 + ESCC_127 COSM5641495 c.881G>A p.R294H Substitution - Missense 19:991301-991301 + TCGA-DW-7842-01 COSM3990470 c.1025A>G p.H342R Substitution - Missense 19:992048-992048 + YURAY COSM475648 c.1245C>T p.I415I Substitution - coding silent 19:994290-994290 + TCGA-CA-6716-01 COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + OSCC-GB_01030111 COSM4887668 c.877G>A p.V293M Substitution - Missense 19:991297-991297 + TCGA-BR-8372-01 COSM4083677 c.1249C>T p.R417W Substitution - Missense 19:994294-994294 + BD87T COSM3749583 c.180T>C p.N60N Substitution - coding silent 19:984533-984533 + TCGA-D3-A3MU-06 COSM3544010 c.476C>T p.S159F Substitution - Missense 19:990243-990243 + TCGA-AA-3511-01 COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + TCGA-EB-A431-01 COSM3544010 c.476C>T p.S159F Substitution - Missense 19:990243-990243 + sysucc-1370T COSM5471159 c.1098+7C>T p.? Unknown 19:992128-992128 + pfg043T COSM4748386 c.728A>T p.D243V Substitution - Missense 19:990982-990982 + TCGA-EE-A2MR-06 COSM3544011 c.477C>T p.S159S Substitution - coding silent 19:990244-990244 + T263 COSM4740877 c.292G>A p.G98R Substitution - Missense 19:985946-985946 + YUDAB COSM1711559 c.614C>T p.S205L Substitution - Missense 19:990868-990868 + SW1222 COSM4654823 c.1103C>T p.S368L Substitution - Missense 19:994024-994024 + TCGA-AZ-4615-01 COSM3757511 c.184A>G p.I62V Substitution - Missense 19:984537-984537 + STC252 COSM5057143 c.330C>T p.T110T Substitution - coding silent 19:989770-989770 + TCGA-AA-3663-01 COSM3757513 c.514G>A p.A172T Substitution - Missense 19:990281-990281 + I2L-P23-Tumor-Biopsy COSM5365285 c.171G>A p.L57L Substitution - coding silent 19:984524-984524 + TCGA-BR-8363-01 COSM2702424 c.966C>T p.P322P Substitution - coding silent 19:991989-991989 + 3_PRE-TREATMENT COSM1723768 c.337C>T p.L113F Substitution - Missense 19:989777-989777 + TCGA-CL-4957-01 COSM3749585 c.471C>T p.D157D Substitution - coding silent 19:990238-990238 + TCGA-F5-6702-01 COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + PCSI_0078_Pa_P_526 COSM3787831 c.457G>A p.V153M Substitution - Missense 19:990224-990224 + TCGA-B5-A0JV-01 COSM1004370 c.283G>A p.V95I Substitution - Missense 19:985937-985937 + TCGA-B5-A0JY-01 COSM1004375 c.820T>C p.C274R Substitution - Missense 19:991240-991240 + 2290929 COSM4440557 c.634G>A p.V212I Substitution - Missense 19:990888-990888 + RKO COSM4648368 c.161C>T p.A54V Substitution - Missense 19:984514-984514 + SNUH_G45_S1 COSM3681131 c.523A>C p.I175L Substitution - Missense 19:990290-990290 + TCGA-G4-6302-01 COSM3749586 c.945T>C p.N315N Substitution - coding silent 19:991968-991968 + 66 COSM5743917 c.1036G>A p.A346T Substitution - Missense 19:992059-992059 + ESCC_45 COSM5630315 c.269C>A p.P90H Substitution - Missense 19:985923-985923 + AA1830 COSM4168937 c.1196G>A p.R399H Substitution - Missense 19:994241-994241 + 20_01 COSM5030826 c.466G>A p.A156T Substitution - Missense 19:990233-990233 + TCGA-B5-A11J-01 COSM1004376 c.836C>T p.T279I Substitution - Missense 19:991256-991256 + CHC303T COSM4957810 c.876C>A p.T292T Substitution - coding silent 19:991296-991296 + HCC116T COSM1613219 c.468C>T p.A156A Substitution - coding silent 19:990235-990235 + TCGA-AZ-4615-01 COSM3757513 c.514G>A p.A172T Substitution - Missense 19:990281-990281 + TCGA-F1-6177-01 COSM4083666 c.44C>T p.A15V Substitution - Missense 19:984397-984397 + TCGA-AA-3697-01 COSM3749586 c.945T>C p.N315N Substitution - coding silent 19:991968-991968 + ML_10_T_01 COSM3749586 c.945T>C p.N315N Substitution - coding silent 19:991968-991968 + TCGA-EP-A26S-01 COSM4913549 c.638T>C p.L213P Substitution - Missense 19:990892-990892 + HCC001T COSM5808876 c.782C>G p.A261G Substitution - Missense 19:991121-991121 + TCGA-AZ-4615-01 COSM3749585 c.471C>T p.D157D Substitution - coding silent 19:990238-990238 + TCGA-DY-A0XA-01 COSM3749586 c.945T>C p.N315N Substitution - coding silent 19:991968-991968 + I2L-P19Tb-Tumor-Organoid COSM5365227 c.563G>A p.R188Q Substitution - Missense 19:990330-990330 + CSCC-62-T COSM1723768 c.337C>T p.L113F Substitution - Missense 19:989777-989777 + TCGA-DD-A11C-01 COSM2702445 c.1236G>A p.L412L Substitution - coding silent 19:994281-994281 + YUKAT COSM5391543 c.1146C>T p.V382V Substitution - coding silent 19:994067-994067 + TCGA-AY-6386-01 COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + CHC303T COSM4957810 c.876C>A p.T292T Substitution - coding silent 19:991296-991296 + TCGA-AP-A059-01 COSM1004374 c.726C>T p.V242V Substitution - coding silent 19:990980-990980 + T3336 COSM4740878 c.366G>A p.Q122Q Substitution - coding silent 19:989806-989806 + HCC116 COSM1613219 c.468C>T p.A156A Substitution - coding silent 19:990235-990235 + sysucc-1450T COSM5480244 c.527C>T p.T176M Substitution - Missense 19:990294-990294 + TCGA-AD-6889-01 COSM1398290 c.697G>A p.G233R Substitution - Missense 19:990951-990951 + TCGA-AA-3663-01 COSM3749585 c.471C>T p.D157D Substitution - coding silent 19:990238-990238 + MSK-PCa4_organoid COSM5423785 c.1126A>C p.T376P Substitution - Missense 19:994047-994047 + cSCCP1 COSM135800 c.1289C>T p.P430L Substitution - Missense 19:994334-994334 + sysucc-1072T COSM5482912 c.921G>T p.V307V Substitution - coding silent 19:991341-991341 + CSCC-27-T COSM4511030 c.855C>T p.L285L Substitution - coding silent 19:991275-991275 + Pat_14_A COSM5541703 c.632C>T p.S211F Substitution - Missense 19:990886-990886 + 6 COSM5044407 c.1198G>A p.V400I Substitution - Missense 19:994243-994243 + TCGA-AG-4022-01 COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + PTC-7C COSM3749586 c.945T>C p.N315N Substitution - coding silent 19:991968-991968 + Pat_01_B COSM5857380 c.11_12CC>TT p.P4L Substitution - Missense 19:984364-984365 + OSCC-GB_00140111 COSM3713117 c.47C>A p.P16Q Substitution - Missense 19:984400-984400 + TCGA-AA-3662-01 COSM3757513 c.514G>A p.A172T Substitution - Missense 19:990281-990281 + T3225 COSM4740879 c.1035C>T p.G345G Substitution - coding silent 19:992058-992058 + 14T COSM3713117 c.47C>A p.P16Q Substitution - Missense 19:984400-984400 + TCGA-AA-3697-01 COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + YUDUTY COSM1711560 c.919G>A p.V307M Substitution - Missense 19:991339-991339 + TCGA-AY-6386-01 COSM3749586 c.945T>C p.N315N Substitution - coding silent 19:991968-991968 + TCGA-IN-7808-01 COSM4083670 c.1084G>A p.G362S Substitution - Missense 19:992107-992107 + TCGA-CK-4952-01 COSM1398289 c.417G>A p.G139G Substitution - coding silent 19:989857-989857 + 1N40-VS-1T40 COSM2702444 c.1229G>A p.R410H Substitution - Missense 19:994274-994274 + TCGA-EE-A181-06 COSM1723768 c.337C>T p.L113F Substitution - Missense 19:989777-989777 + TCGA-AY-6386-01 COSM3749583 c.180T>C p.N60N Substitution - coding silent 19:984533-984533 + A5 COSM5350559 c.329C>T p.T110I Substitution - Missense 19:989769-989769 + C086 COSM5541704 c.1278C>T p.F426F Substitution - coding silent 19:994323-994323 + LP6005690-DNA_E03 COSM5952747 c.1222G>A p.E408K Substitution - Missense 19:994267-994267 + I2L-P23-Tumor-Organoid COSM5365285 c.171G>A p.L57L Substitution - coding silent 19:984524-984524 + TCGA-AZ-4615-01 COSM3693289 c.744C>T p.P248P Substitution - coding silent 19:991083-991083 + TCGA-EB-A44P-01 COSM3544015 c.1293C>T p.A431A Substitution - coding silent 19:994338-994338 + TCGA-AA-3712-01 COSM3749584 c.201C>G p.L67L Substitution - coding silent 19:984554-984554 + TCGA-Q1-A73O-01 COSM4836060 c.827C>T p.S276L Substitution - Missense 19:991247-991247 + PTC-50C COSM3749586 c.945T>C p.N315N Substitution - coding silent 19:991968-991968 + AD48 COSM5966561 c.780C>A p.D260E Substitution - Missense 19:991119-991119 + ESCC_BICR_060T COSM5434982 c.1056G>A p.P352P Substitution - coding silent 19:992079-992079 + TCGA-18-5595-01 COSM715035 c.1218G>A p.E406E Substitution - coding silent 19:994263-994263 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.325198;Hs.325275;Hs.325321 19p13.3 2391373|CGAP|BC000040|C/T|coding|Asn60Asn|190|Candidate; 2391373|CGAP|BC001648|C/T|coding|Asn60Asn|185|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.M387V c.1159A>G 19 994079 RCCC C A Missense p.A156D c.467C>A 19 990234 HNSC C T Missense p.A15V c.44C>T 19 984397 STAD C T Missense p.L113F c.337C>T 19 989777 CM C T Missense p.L363F c.1087C>T 19 992110 STAD C T Missense p.P4L c.11C>T 19 984364 CM C T Missense p.S159F c.476C>T 19 990243 CM C T Missense p.T279I c.836C>T 19 991256 UCEC C T Synonymous p.A317A c.951C>T 19 991974 LGG C T Synonymous p.I415I c.1245C>T 19 994289 CM C T Synonymous p.I415I c.1245C>T 19 994289 RCCC G A Missense p.G111R c.331G>A 19 989771 HNSC G A Missense p.V95I c.283G>A 19 985937 HNSC G A Missense p.V95I c.283G>A 19 985937 UCEC G A Synonymous p.E406E c.1218G>A 19 994262 LUSC GTCCCAG - IntronicDeletion . c.807-28_807-22delCCCAGGT 19 991197 CM T A Synonymous p.S169S c.507T>A 19 990274 RCCC