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 13063541 13063541 + Silent SNP G G A TCGA-OR-A5LO-01A-11D-A29I-10 TCGA-OR-A5LO-10A-01D-A29L-10 g.chr19:13063541G>A c.852G>A c.(850-852)ctG>ctA p.L284L BLCA 19 13056771 13056771 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr19:13056771C>T c.9C>T c.(7-9)gtC>gtT p.V3V BLCA 19 13058772 13058772 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr19:13058772C>G c.183C>G c.(181-183)atC>atG p.I61M BLCA 19 13058999 13058999 + Silent SNP C C A TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr19:13058999C>A c.243C>A c.(241-243)gcC>gcA p.A81A BLCA 19 13059132 13059132 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr19:13059132G>C c.376G>C c.(376-378)Gag>Cag p.E126Q BLCA 19 13059625 13059625 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr19:13059625A>G c.598A>G c.(598-600)Acg>Gcg p.T200A BLCA 19 13059906 13059906 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr19:13059906G>A c.612G>A c.(610-612)ggG>ggA p.G204G BLCA 19 13060211 13060211 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr19:13060211C>T c.802C>T c.(802-804)Cag>Tag p.Q268* BLCA 19 13063804 13063804 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr19:13063804G>A c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K BRCA 19 13059101 13059101 + Silent SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr19:13059101A>C c.345A>C c.(343-345)ccA>ccC p.P115P BRCA 19 13059325 13059325 + Nonsense_Mutation SNP C C G TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr19:13059325C>G c.431C>G c.(430-432)tCa>tGa p.S144* BRCA 19 13059579 13059579 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr19:13059579G>C c.552G>C c.(550-552)ctG>ctC p.L184L BRCA 19 13063583 13063583 + Frame_Shift_Del DEL G G - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr19:13063583delG c.894delG c.(892-894)gagfs p.E298fs CESC 19 13059322 13059322 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr19:13059322C>G c.428C>G c.(427-429)tCt>tGt p.S143C COAD 19 13056783 13056783 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr19:13056783C>T c.21C>T c.(19-21)ctC>ctT p.L7L COAD 19 13058787 13058787 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:13058787C>T c.198C>T c.(196-198)atC>atT p.I66I COAD 19 13058819 13058819 + Missense_Mutation SNP C C T TCGA-A6-2678-01A-01W-0831-10 TCGA-A6-2678-10A-01W-0831-10 g.chr19:13058819C>T c.230C>T c.(229-231)aCc>aTc p.T77I COAD 19 13059152 13059152 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:13059152G>A c.396G>A c.(394-396)acG>acA p.T132T COAD 19 13059959 13059959 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:13059959C>T c.665C>T c.(664-666)cCg>cTg p.P222L COAD 19 13060147 13060147 + Missense_Mutation SNP G G T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:13060147G>T c.738G>T c.(736-738)caG>caT p.Q246H COAD 19 13063545 13063545 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:13063545G>A c.856G>A c.(856-858)Gag>Aag p.E286K COADREAD 19 13056783 13056783 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr19:13056783C>T c.21C>T c.(19-21)ctC>ctT p.L7L COADREAD 19 13058787 13058787 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:13058787C>T c.198C>T c.(196-198)atC>atT p.I66I COADREAD 19 13058819 13058819 + Missense_Mutation SNP C C T TCGA-A6-2678-01A-01W-0831-10 TCGA-A6-2678-10A-01W-0831-10 g.chr19:13058819C>T c.230C>T c.(229-231)aCc>aTc p.T77I COADREAD 19 13059032 13059032 + Silent SNP A A C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr19:13059032A>C c.276A>C c.(274-276)tcA>tcC p.S92S COADREAD 19 13059152 13059152 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:13059152G>A c.396G>A c.(394-396)acG>acA p.T132T COADREAD 19 13059959 13059959 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:13059959C>T c.665C>T c.(664-666)cCg>cTg p.P222L COADREAD 19 13060147 13060147 + Missense_Mutation SNP G G T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:13060147G>T c.738G>T c.(736-738)caG>caT p.Q246H COADREAD 19 13063545 13063545 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:13063545G>A c.856G>A c.(856-858)Gag>Aag p.E286K GBMLGG 19 13059141 13059141 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:13059141G>A c.385G>A c.(385-387)Gcc>Acc p.A129T GBMLGG 19 13063631 13063631 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:13063631C>A c.942C>A c.(940-942)atC>atA p.I314I HNSC 19 13058677 13058691 + In_Frame_Del DEL GAGAAGATAGAAGCT GAGAAGATAGAAGCT - TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr19:13058677_13058691delGAGAAGATAGAAGCT c.88_102delGAGAAGATAGAAGCT c.(88-102)gagaagatagaagctdel p.EKIEA30del HNSC 19 13059952 13059952 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr19:13059952G>C c.658G>C c.(658-660)Gag>Cag p.E220Q HNSC 19 13060139 13060139 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr19:13060139A>T c.730A>T c.(730-732)Atg>Ttg p.M244L HNSC 19 13060211 13060211 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr19:13060211C>G c.802C>G c.(802-804)Cag>Gag p.Q268E HNSC 19 13063836 13063836 + Silent SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr19:13063836C>A c.1065C>A c.(1063-1065)ctC>ctA p.L355L KIPAN 19 13058667 13058667 + Silent SNP G G A TCGA-CJ-4895-01A-01D-1373-10 TCGA-CJ-4895-11A-01D-1373-10 g.chr19:13058667G>A c.78G>A c.(76-78)aaG>aaA p.K26K KIPAN 19 13060221 13060221 + Splice_Site DEL A A - TCGA-MH-A856-01A-11D-A34Z-10 TCGA-MH-A856-10A-01D-A34Z-10 g.chr19:13060221delA c.812delA c.(811-813)cag>cg p.Q272fs KIRC 19 13058667 13058667 + Silent SNP G G A TCGA-CJ-4895-01A-01D-1373-10 TCGA-CJ-4895-11A-01D-1373-10 g.chr19:13058667G>A c.78G>A c.(76-78)aaG>aaA p.K26K KIRP 19 13060221 13060221 + Splice_Site DEL A A - TCGA-MH-A856-01A-11D-A34Z-10 TCGA-MH-A856-10A-01D-A34Z-10 g.chr19:13060221delA c.812delA c.(811-813)cag>cg p.Q272fs LGG 19 13059141 13059141 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:13059141G>A c.385G>A c.(385-387)Gcc>Acc p.A129T LGG 19 13063631 13063631 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:13063631C>A c.942C>A c.(940-942)atC>atA p.I314I LIHC 19 13056794 13056794 + Missense_Mutation SNP A A C TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr19:13056794A>C c.32A>C c.(31-33)cAg>cCg p.Q11P LIHC 19 13056800 13056800 + Missense_Mutation SNP A A C TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr19:13056800A>C c.38A>C c.(37-39)cAg>cCg p.Q13P LIHC 19 13059162 13059162 + Missense_Mutation SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr19:13059162T>C c.406T>C c.(406-408)Tct>Cct p.S136P LUAD 19 13059014 13059014 + Silent SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr19:13059014A>T c.258A>T c.(256-258)tcA>tcT p.S86S LUAD 19 13059350 13059350 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr19:13059350C>T c.456C>T c.(454-456)gaC>gaT p.D152D LUAD 19 13063562 13063562 + Silent SNP G G C TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr19:13063562G>C c.873G>C c.(871-873)ctG>ctC p.L291L LUAD 19 13063662 13063662 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr19:13063662G>A c.973G>A c.(973-975)Gag>Aag p.E325K LUSC 19 13059563 13059563 + Missense_Mutation SNP G G T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr19:13059563G>T c.536G>T c.(535-537)cGg>cTg p.R179L LUSC 19 13060094 13060094 + Missense_Mutation SNP G G A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr19:13060094G>A c.685G>A c.(685-687)Gag>Aag p.E229K OV 19 13063845 13063845 + Missense_Mutation SNP G G C TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 g.chr19:13063845G>C c.1074G>C c.(1072-1074)caG>caC p.Q358H PAAD 19 13059574 13059574 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:13059574G>A c.547G>A c.(547-549)Gcc>Acc p.A183T PRAD 19 13059566 13059566 + Missense_Mutation SNP T T C TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 g.chr19:13059566T>C c.539T>C c.(538-540)gTc>gCc p.V180A READ 19 13059032 13059032 + Silent SNP A A C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr19:13059032A>C c.276A>C c.(274-276)tcA>tcC p.S92S SARC 19 13059109 13059109 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr19:13059109C>T c.353C>T c.(352-354)gCc>gTc p.A118V SARC 19 13060159 13060159 + Missense_Mutation SNP G G C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 g.chr19:13060159G>C c.750G>C c.(748-750)caG>caC p.Q250H SKCM 19 13058990 13058990 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr19:13058990G>A c.e3-1 SKCM 19 13059062 13059062 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr19:13059062C>T c.306C>T c.(304-306)tcC>tcT p.S102S SKCM 19 13059531 13059531 + Silent SNP G G T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr19:13059531G>T c.504G>T c.(502-504)acG>acT p.T168T SKCM 19 13059566 13059566 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:13059566T>C c.539T>C c.(538-540)gTc>gCc p.V180A SKCM 19 13059911 13059911 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:13059911C>T c.617C>T c.(616-618)cCc>cTc p.P206L SKCM 19 13059912 13059912 + Silent SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:13059912C>T c.618C>T c.(616-618)ccC>ccT p.P206P SKCM 19 13063555 13063555 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr19:13063555G>A c.866G>A c.(865-867)gGg>gAg p.G289E SKCM 19 13063556 13063556 + Silent SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr19:13063556G>A c.867G>A c.(865-867)ggG>ggA p.G289G SKCM 19 13063580 13063580 + Silent SNP G G T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr19:13063580G>T c.891G>T c.(889-891)gtG>gtT p.V297V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 13058808 13058808 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-CN 19 13058808 13058808 single base substitution C T exon_variant BLCA-CN 19 13058808 13058808 single base substitution C T synonymous_variant V73V 219C>T BLCA-CN 19 13058808 13058808 single base substitution C T upstream_gene_variant BLCA-CN 19 13067675 13067675 single base substitution A C downstream_gene_variant BLCA-US 19 13054368 13054368 single base substitution C T upstream_gene_variant BLCA-US 19 13059132 13059132 single base substitution G C 5_prime_UTR_variant BLCA-US 19 13059132 13059132 single base substitution G C exon_variant BLCA-US 19 13059132 13059132 single base substitution G C missense_variant E126Q 376G>C BLCA-US 19 13059132 13059132 single base substitution G C upstream_gene_variant BLCA-US 19 13059906 13059906 single base substitution G A 3_prime_UTR_variant BLCA-US 19 13059906 13059906 single base substitution G A exon_variant BLCA-US 19 13059906 13059906 single base substitution G A intron_variant BLCA-US 19 13059906 13059906 single base substitution G A synonymous_variant G204G 612G>A BLCA-US 19 13059906 13059906 single base substitution G A synonymous_variant G39G 117G>A BLCA-US 19 13059906 13059906 single base substitution G A synonymous_variant G3G 9G>A BLCA-US 19 13059906 13059906 single base substitution G A upstream_gene_variant BOCA-UK 19 13059121 13059121 single base substitution A G 5_prime_UTR_variant BOCA-UK 19 13059121 13059121 single base substitution A G exon_variant BOCA-UK 19 13059121 13059121 single base substitution A G missense_variant K122R 365A>G BOCA-UK 19 13059121 13059121 single base substitution A G upstream_gene_variant BRCA-EU 19 13052029 13052029 single base substitution G C upstream_gene_variant BRCA-EU 19 13052037 13052037 single base substitution G A upstream_gene_variant BRCA-EU 19 13052116 13052116 single base substitution T A upstream_gene_variant BRCA-EU 19 13052874 13052874 single base substitution C G upstream_gene_variant BRCA-EU 19 13052945 13052945 single base substitution G A upstream_gene_variant BRCA-EU 19 13054786 13054786 single base substitution C T upstream_gene_variant BRCA-EU 19 13055365 13055365 single base substitution G C upstream_gene_variant BRCA-EU 19 13056371 13056371 single base substitution A C upstream_gene_variant BRCA-EU 19 13056495 13056495 single base substitution G C upstream_gene_variant BRCA-EU 19 13058203 13058203 single base substitution T G intron_variant BRCA-EU 19 13058203 13058203 single base substitution T G upstream_gene_variant BRCA-EU 19 13059966 13059966 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 13059966 13059966 single base substitution G A exon_variant BRCA-EU 19 13059966 13059966 single base substitution G A intron_variant BRCA-EU 19 13059966 13059966 single base substitution G A synonymous_variant T224T 672G>A BRCA-EU 19 13059966 13059966 single base substitution G A synonymous_variant T23T 69G>A BRCA-EU 19 13059966 13059966 single base substitution G A synonymous_variant T59T 177G>A BRCA-EU 19 13059966 13059966 single base substitution G A upstream_gene_variant BRCA-EU 19 13061055 13061055 single base substitution C A downstream_gene_variant BRCA-EU 19 13061055 13061055 single base substitution C A intron_variant BRCA-EU 19 13061055 13061055 single base substitution C A upstream_gene_variant BRCA-EU 19 13062488 13062488 single base substitution G A downstream_gene_variant BRCA-EU 19 13062488 13062488 single base substitution G A intron_variant BRCA-EU 19 13062488 13062488 single base substitution G A upstream_gene_variant BRCA-EU 19 13063548 13063548 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 13063548 13063548 single base substitution C T downstream_gene_variant BRCA-EU 19 13063548 13063548 single base substitution C T exon_variant BRCA-EU 19 13063548 13063548 single base substitution C T intron_variant BRCA-EU 19 13063548 13063548 single base substitution C T missense_variant P122S 364C>T BRCA-EU 19 13063548 13063548 single base substitution C T missense_variant P286S 856C>T BRCA-EU 19 13063548 13063548 single base substitution C T missense_variant P287S 859C>T BRCA-EU 19 13063548 13063548 single base substitution C T missense_variant P85S 253C>T BRCA-EU 19 13063609 13063609 single base substitution A C 3_prime_UTR_variant BRCA-EU 19 13063609 13063609 single base substitution A C downstream_gene_variant BRCA-EU 19 13063609 13063609 single base substitution A C exon_variant BRCA-EU 19 13063609 13063609 single base substitution A C intron_variant BRCA-EU 19 13063609 13063609 single base substitution A C missense_variant E105A 314A>C BRCA-EU 19 13063609 13063609 single base substitution A C missense_variant E142A 425A>C BRCA-EU 19 13063609 13063609 single base substitution A C missense_variant E306A 917A>C BRCA-EU 19 13063609 13063609 single base substitution A C missense_variant E307A 920A>C BRCA-EU 19 13064603 13064603 single base substitution C T downstream_gene_variant BRCA-EU 19 13065802 13065802 single base substitution G A downstream_gene_variant BRCA-EU 19 13066721 13066721 single base substitution C T downstream_gene_variant BRCA-EU 19 13066761 13066761 single base substitution C A downstream_gene_variant BRCA-FR 19 13052874 13052874 single base substitution C G upstream_gene_variant BRCA-FR 19 13056988 13056988 single base substitution G C intron_variant BRCA-FR 19 13056988 13056988 single base substitution G C upstream_gene_variant BRCA-FR 19 13065252 13065252 single base substitution G T downstream_gene_variant BRCA-UK 19 13052029 13052029 single base substitution G C upstream_gene_variant BRCA-UK 19 13052037 13052037 single base substitution G A upstream_gene_variant BRCA-UK 19 13052139 13052139 single base substitution C T upstream_gene_variant BRCA-UK 19 13057604 13057604 single base substitution G A intron_variant BRCA-UK 19 13057604 13057604 single base substitution G A upstream_gene_variant BRCA-US 19 13054630 13054630 single base substitution A G upstream_gene_variant BRCA-US 19 13059101 13059101 single base substitution A C 5_prime_UTR_variant BRCA-US 19 13059101 13059101 single base substitution A C exon_variant BRCA-US 19 13059101 13059101 single base substitution A C synonymous_variant P115P 345A>C BRCA-US 19 13059101 13059101 single base substitution A C upstream_gene_variant BRCA-US 19 13059325 13059325 single base substitution C G exon_variant BRCA-US 19 13059325 13059325 single base substitution C G intron_variant BRCA-US 19 13059325 13059325 single base substitution C G splice_region_variant BRCA-US 19 13059325 13059325 single base substitution C G stop_gained S144* 431C>G BRCA-US 19 13059325 13059325 single base substitution C G upstream_gene_variant BRCA-US 19 13059579 13059579 single base substitution G C 3_prime_UTR_variant BRCA-US 19 13059579 13059579 single base substitution G C exon_variant BRCA-US 19 13059579 13059579 single base substitution G C synonymous_variant L184L 552G>C BRCA-US 19 13059579 13059579 single base substitution G C synonymous_variant L19L 57G>C BRCA-US 19 13059579 13059579 single base substitution G C upstream_gene_variant BRCA-US 19 13063583 13063583 deletion of <=200bp G - 3_prime_UTR_variant BRCA-US 19 13063583 13063583 deletion of <=200bp G - downstream_gene_variant BRCA-US 19 13063583 13063583 deletion of <=200bp G - exon_variant BRCA-US 19 13063583 13063583 deletion of <=200bp G - frameshift_variant E133 BRCA-US 19 13063583 13063583 deletion of <=200bp G - frameshift_variant E297 BRCA-US 19 13063583 13063583 deletion of <=200bp G - frameshift_variant E298 BRCA-US 19 13063583 13063583 deletion of <=200bp G - frameshift_variant E96 BRCA-US 19 13063583 13063583 deletion of <=200bp G - intron_variant BRCA-US 19 13065285 13065285 single base substitution G A downstream_gene_variant BTCA-JP 19 13059868 13059868 single base substitution A G exon_variant BTCA-JP 19 13059868 13059868 single base substitution A G intron_variant BTCA-JP 19 13059868 13059868 single base substitution A G upstream_gene_variant BTCA-JP 19 13060222 13060222 single base substitution G A downstream_gene_variant BTCA-JP 19 13060222 13060222 single base substitution G A splice_region_variant BTCA-JP 19 13060222 13060222 single base substitution G A upstream_gene_variant CESC-US 19 13054640 13054640 single base substitution G T upstream_gene_variant CESC-US 19 13059322 13059322 single base substitution C G exon_variant CESC-US 19 13059322 13059322 single base substitution C G intron_variant CESC-US 19 13059322 13059322 single base substitution C G missense_variant S143C 428C>G CESC-US 19 13059322 13059322 single base substitution C G splice_region_variant CESC-US 19 13059322 13059322 single base substitution C G upstream_gene_variant CLLE-ES 19 13060824 13060824 single base substitution C T downstream_gene_variant CLLE-ES 19 13060824 13060824 single base substitution C T intron_variant CLLE-ES 19 13060824 13060824 single base substitution C T upstream_gene_variant CLLE-ES 19 13061651 13061651 single base substitution A G downstream_gene_variant CLLE-ES 19 13061651 13061651 single base substitution A G intron_variant CLLE-ES 19 13061651 13061651 single base substitution A G upstream_gene_variant COAD-US 19 13059548 13059548 single base substitution G A 3_prime_UTR_variant COAD-US 19 13059548 13059548 single base substitution G A exon_variant COAD-US 19 13059548 13059548 single base substitution G A missense_variant G174D 521G>A COAD-US 19 13059548 13059548 single base substitution G A missense_variant G9D 26G>A COAD-US 19 13059548 13059548 single base substitution G A upstream_gene_variant COAD-US 19 13059959 13059959 single base substitution C T 3_prime_UTR_variant COAD-US 19 13059959 13059959 single base substitution C T exon_variant COAD-US 19 13059959 13059959 single base substitution C T intron_variant COAD-US 19 13059959 13059959 single base substitution C T missense_variant P21L 62C>T COAD-US 19 13059959 13059959 single base substitution C T missense_variant P222L 665C>T COAD-US 19 13059959 13059959 single base substitution C T missense_variant P57L 170C>T COAD-US 19 13059959 13059959 single base substitution C T upstream_gene_variant COAD-US 19 13060147 13060147 single base substitution G T 3_prime_UTR_variant COAD-US 19 13060147 13060147 single base substitution G T downstream_gene_variant COAD-US 19 13060147 13060147 single base substitution G T exon_variant COAD-US 19 13060147 13060147 single base substitution G T missense_variant Q245H 735G>T COAD-US 19 13060147 13060147 single base substitution G T missense_variant Q246H 738G>T COAD-US 19 13060147 13060147 single base substitution G T missense_variant Q44H 132G>T COAD-US 19 13060147 13060147 single base substitution G T missense_variant Q81H 243G>T COAD-US 19 13060147 13060147 single base substitution G T upstream_gene_variant COAD-US 19 13063545 13063545 single base substitution G A 3_prime_UTR_variant COAD-US 19 13063545 13063545 single base substitution G A downstream_gene_variant COAD-US 19 13063545 13063545 single base substitution G A exon_variant COAD-US 19 13063545 13063545 single base substitution G A intron_variant COAD-US 19 13063545 13063545 single base substitution G A missense_variant E121K 361G>A COAD-US 19 13063545 13063545 single base substitution G A missense_variant E285K 853G>A COAD-US 19 13063545 13063545 single base substitution G A missense_variant E286K 856G>A COAD-US 19 13063545 13063545 single base substitution G A missense_variant E84K 250G>A COAD-US 19 13065105 13065106 deletion of <=200bp TC - downstream_gene_variant COAD-US 19 13065136 13065138 deletion of <=200bp CTT - downstream_gene_variant COAD-US 19 13067792 13067792 single base substitution G C downstream_gene_variant COCA-CN 19 13056888 13056888 single base substitution T G intron_variant COCA-CN 19 13056888 13056888 single base substitution T G upstream_gene_variant ESAD-UK 19 13052108 13052108 deletion of <=200bp A - upstream_gene_variant ESAD-UK 19 13052627 13052627 single base substitution A G upstream_gene_variant ESAD-UK 19 13054126 13054126 single base substitution C T upstream_gene_variant ESAD-UK 19 13054380 13054380 insertion of <=200bp - CCTCATCA upstream_gene_variant ESAD-UK 19 13062291 13062291 single base substitution G A downstream_gene_variant ESAD-UK 19 13062291 13062291 single base substitution G A intron_variant ESAD-UK 19 13062291 13062291 single base substitution G A upstream_gene_variant ESAD-UK 19 13063985 13063985 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 19 13063985 13063985 insertion of <=200bp - A downstream_gene_variant ESAD-UK 19 13065676 13065676 deletion of <=200bp C - downstream_gene_variant ESAD-UK 19 13066126 13066126 single base substitution A T downstream_gene_variant ESAD-UK 19 13066275 13066275 single base substitution C A downstream_gene_variant ESCA-CN 19 13056861 13056861 single base substitution C G intron_variant ESCA-CN 19 13056861 13056861 single base substitution C G upstream_gene_variant KIRC-US 19 13058667 13058667 single base substitution G A 5_prime_UTR_variant KIRC-US 19 13058667 13058667 single base substitution G A exon_variant KIRC-US 19 13058667 13058667 single base substitution G A synonymous_variant K26K 78G>A KIRC-US 19 13058667 13058667 single base substitution G A upstream_gene_variant KIRP-US 19 13054650 13054658 deletion of <=200bp GAGGATGAG - upstream_gene_variant LAML-KR 19 13054404 13054404 single base substitution C A upstream_gene_variant LGG-US 19 13065170 13065170 single base substitution C T downstream_gene_variant LGG-US 19 13065273 13065275 deletion of <=200bp GCT - downstream_gene_variant LIHC-US 19 13054680 13054680 single base substitution G T upstream_gene_variant LIHC-US 19 13054713 13054713 single base substitution A G upstream_gene_variant LIHC-US 19 13054718 13054718 single base substitution C G upstream_gene_variant LIHC-US 19 13056794 13056794 single base substitution A C 5_prime_UTR_variant LIHC-US 19 13056794 13056794 single base substitution A C exon_variant LIHC-US 19 13056794 13056794 single base substitution A C missense_variant Q11P 32A>C LIHC-US 19 13056794 13056794 single base substitution A C upstream_gene_variant LIHC-US 19 13056800 13056800 single base substitution A C 5_prime_UTR_variant LIHC-US 19 13056800 13056800 single base substitution A C exon_variant LIHC-US 19 13056800 13056800 single base substitution A C missense_variant Q13P 38A>C LIHC-US 19 13056800 13056800 single base substitution A C upstream_gene_variant LINC-JP 19 13054511 13054511 single base substitution T C upstream_gene_variant LINC-JP 19 13058778 13058778 single base substitution C G 5_prime_UTR_variant LINC-JP 19 13058778 13058778 single base substitution C G exon_variant LINC-JP 19 13058778 13058778 single base substitution C G missense_variant D63E 189C>G LINC-JP 19 13058778 13058778 single base substitution C G upstream_gene_variant LINC-JP 19 13060151 13060151 single base substitution A G 3_prime_UTR_variant LINC-JP 19 13060151 13060151 single base substitution A G downstream_gene_variant LINC-JP 19 13060151 13060151 single base substitution A G exon_variant LINC-JP 19 13060151 13060151 single base substitution A G missense_variant I247V 739A>G LINC-JP 19 13060151 13060151 single base substitution A G missense_variant I248V 742A>G LINC-JP 19 13060151 13060151 single base substitution A G missense_variant I46V 136A>G LINC-JP 19 13060151 13060151 single base substitution A G missense_variant I83V 247A>G LINC-JP 19 13060151 13060151 single base substitution A G upstream_gene_variant LIRI-JP 19 13052227 13052227 single base substitution A G upstream_gene_variant LIRI-JP 19 13052511 13052511 single base substitution A G upstream_gene_variant LIRI-JP 19 13053168 13053168 single base substitution C T upstream_gene_variant LIRI-JP 19 13054541 13054541 single base substitution A G upstream_gene_variant LIRI-JP 19 13055502 13055502 single base substitution A G upstream_gene_variant LIRI-JP 19 13057589 13057589 single base substitution C T intron_variant LIRI-JP 19 13057589 13057589 single base substitution C T upstream_gene_variant LIRI-JP 19 13058561 13058561 single base substitution C T intron_variant LIRI-JP 19 13058561 13058561 single base substitution C T upstream_gene_variant LIRI-JP 19 13061895 13061895 single base substitution A G downstream_gene_variant LIRI-JP 19 13061895 13061895 single base substitution A G intron_variant LIRI-JP 19 13061895 13061895 single base substitution A G upstream_gene_variant LIRI-JP 19 13064545 13064545 single base substitution G T downstream_gene_variant LIRI-JP 19 13065878 13065878 single base substitution A C downstream_gene_variant LIRI-JP 19 13066959 13066959 single base substitution A C downstream_gene_variant LIRI-JP 19 13067153 13067153 single base substitution A G downstream_gene_variant LIRI-JP 19 13067297 13067297 single base substitution G A downstream_gene_variant LIRI-JP 19 13067548 13067548 single base substitution G A downstream_gene_variant LIRI-JP 19 13067576 13067576 single base substitution G A downstream_gene_variant LUSC-KR 19 13054850 13054850 single base substitution G T upstream_gene_variant LUSC-KR 19 13055693 13055693 single base substitution C T upstream_gene_variant LUSC-KR 19 13058649 13058649 single base substitution C A intron_variant LUSC-KR 19 13058649 13058649 single base substitution C A upstream_gene_variant LUSC-KR 19 13059147 13059147 single base substitution A G 5_prime_UTR_variant LUSC-KR 19 13059147 13059147 single base substitution A G exon_variant LUSC-KR 19 13059147 13059147 single base substitution A G missense_variant T131A 391A>G LUSC-KR 19 13059147 13059147 single base substitution A G upstream_gene_variant LUSC-KR 19 13064322 13064322 single base substitution G T 3_prime_UTR_variant LUSC-KR 19 13064322 13064322 single base substitution G T downstream_gene_variant LUSC-US 19 13054428 13054428 single base substitution G A upstream_gene_variant LUSC-US 19 13059563 13059563 single base substitution G T 3_prime_UTR_variant LUSC-US 19 13059563 13059563 single base substitution G T exon_variant LUSC-US 19 13059563 13059563 single base substitution G T missense_variant R14L 41G>T LUSC-US 19 13059563 13059563 single base substitution G T missense_variant R179L 536G>T LUSC-US 19 13059563 13059563 single base substitution G T upstream_gene_variant LUSC-US 19 13060094 13060094 single base substitution G A 3_prime_UTR_variant LUSC-US 19 13060094 13060094 single base substitution G A exon_variant LUSC-US 19 13060094 13060094 single base substitution G A missense_variant E228K 682G>A LUSC-US 19 13060094 13060094 single base substitution G A missense_variant E229K 685G>A LUSC-US 19 13060094 13060094 single base substitution G A missense_variant E27K 79G>A LUSC-US 19 13060094 13060094 single base substitution G A missense_variant E64K 190G>A LUSC-US 19 13060094 13060094 single base substitution G A splice_region_variant LUSC-US 19 13060094 13060094 single base substitution G A upstream_gene_variant MALY-DE 19 13054470 13054470 single base substitution C T upstream_gene_variant MALY-DE 19 13056692 13056692 deletion of <=200bp C - 5_prime_UTR_variant MALY-DE 19 13056692 13056692 deletion of <=200bp C - exon_variant MALY-DE 19 13056692 13056692 deletion of <=200bp C - upstream_gene_variant MALY-DE 19 13056798 13056798 single base substitution G T 5_prime_UTR_variant MALY-DE 19 13056798 13056798 single base substitution G T exon_variant MALY-DE 19 13056798 13056798 single base substitution G T missense_variant Q12H 36G>T MALY-DE 19 13056798 13056798 single base substitution G T upstream_gene_variant MELA-AU 19 13051927 13051927 single base substitution T C upstream_gene_variant MELA-AU 19 13053528 13053529 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 13053609 13053609 single base substitution C T upstream_gene_variant MELA-AU 19 13053927 13053927 single base substitution C T upstream_gene_variant MELA-AU 19 13053990 13053990 single base substitution C T upstream_gene_variant MELA-AU 19 13053993 13053994 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 13054331 13054331 single base substitution C T upstream_gene_variant MELA-AU 19 13054332 13054332 single base substitution C T upstream_gene_variant MELA-AU 19 13054870 13054870 single base substitution C T upstream_gene_variant MELA-AU 19 13055223 13055223 single base substitution G T upstream_gene_variant MELA-AU 19 13055588 13055588 single base substitution C T upstream_gene_variant MELA-AU 19 13056237 13056237 single base substitution A T upstream_gene_variant MELA-AU 19 13056415 13056415 single base substitution C T upstream_gene_variant MELA-AU 19 13057188 13057188 single base substitution C T intron_variant MELA-AU 19 13057188 13057188 single base substitution C T upstream_gene_variant MELA-AU 19 13058123 13058123 single base substitution C T intron_variant MELA-AU 19 13058123 13058123 single base substitution C T upstream_gene_variant MELA-AU 19 13058236 13058237 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 19 13058236 13058237 multiple base substitution (>=2bp and <=200bp) TC AA upstream_gene_variant MELA-AU 19 13058596 13058596 single base substitution G T intron_variant MELA-AU 19 13058596 13058596 single base substitution G T upstream_gene_variant MELA-AU 19 13058990 13058990 single base substitution G A splice_acceptor_variant MELA-AU 19 13058990 13058990 single base substitution G A upstream_gene_variant MELA-AU 19 13058999 13058999 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 13058999 13058999 single base substitution C T exon_variant MELA-AU 19 13058999 13058999 single base substitution C T synonymous_variant A81A 243C>T MELA-AU 19 13058999 13058999 single base substitution C T upstream_gene_variant MELA-AU 19 13060301 13060301 single base substitution G A downstream_gene_variant MELA-AU 19 13060301 13060301 single base substitution G A intron_variant MELA-AU 19 13060301 13060301 single base substitution G A upstream_gene_variant MELA-AU 19 13060701 13060701 single base substitution C T downstream_gene_variant MELA-AU 19 13060701 13060701 single base substitution C T intron_variant MELA-AU 19 13060701 13060701 single base substitution C T upstream_gene_variant MELA-AU 19 13061340 13061340 single base substitution C T downstream_gene_variant MELA-AU 19 13061340 13061340 single base substitution C T intron_variant MELA-AU 19 13061340 13061340 single base substitution C T upstream_gene_variant MELA-AU 19 13061773 13061773 single base substitution G T downstream_gene_variant MELA-AU 19 13061773 13061773 single base substitution G T intron_variant MELA-AU 19 13061773 13061773 single base substitution G T upstream_gene_variant MELA-AU 19 13062084 13062085 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 13062084 13062085 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 13062084 13062085 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 13062327 13062327 single base substitution C T downstream_gene_variant MELA-AU 19 13062327 13062327 single base substitution C T intron_variant MELA-AU 19 13062327 13062327 single base substitution C T upstream_gene_variant MELA-AU 19 13062346 13062346 single base substitution C T downstream_gene_variant MELA-AU 19 13062346 13062346 single base substitution C T intron_variant MELA-AU 19 13062346 13062346 single base substitution C T upstream_gene_variant MELA-AU 19 13063056 13063056 single base substitution C T downstream_gene_variant MELA-AU 19 13063056 13063056 single base substitution C T intron_variant MELA-AU 19 13063056 13063056 single base substitution C T upstream_gene_variant MELA-AU 19 13063252 13063252 single base substitution T C downstream_gene_variant MELA-AU 19 13063252 13063252 single base substitution T C exon_variant MELA-AU 19 13063252 13063252 single base substitution T C intron_variant MELA-AU 19 13063345 13063345 single base substitution C T downstream_gene_variant MELA-AU 19 13063345 13063345 single base substitution C T exon_variant MELA-AU 19 13063345 13063345 single base substitution C T intron_variant MELA-AU 19 13063834 13063834 single base substitution C T 3_prime_UTR_variant MELA-AU 19 13063834 13063834 single base substitution C T downstream_gene_variant MELA-AU 19 13063834 13063834 single base substitution C T missense_variant L142F 424C>T MELA-AU 19 13063834 13063834 single base substitution C T missense_variant L190F 568C>T MELA-AU 19 13063834 13063834 single base substitution C T missense_variant L300F 898C>T MELA-AU 19 13063834 13063834 single base substitution C T missense_variant L354F 1060C>T MELA-AU 19 13063834 13063834 single base substitution C T missense_variant L355F 1063C>T MELA-AU 19 13064196 13064196 single base substitution C T 3_prime_UTR_variant MELA-AU 19 13064196 13064196 single base substitution C T downstream_gene_variant MELA-AU 19 13066689 13066689 single base substitution A G downstream_gene_variant MELA-AU 19 13066833 13066833 single base substitution G A downstream_gene_variant MELA-AU 19 13067259 13067260 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 13068411 13068411 single base substitution C T downstream_gene_variant MELA-AU 19 13068483 13068483 single base substitution G A downstream_gene_variant MELA-AU 19 13068548 13068548 single base substitution C T downstream_gene_variant MELA-AU 19 13068591 13068591 single base substitution G A downstream_gene_variant MELA-AU 19 13068887 13068887 single base substitution A T downstream_gene_variant MELA-AU 19 13069455 13069455 single base substitution G A downstream_gene_variant ORCA-IN 19 13059040 13059040 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 19 13059040 13059040 single base substitution C A exon_variant ORCA-IN 19 13059040 13059040 single base substitution C A missense_variant A95D 284C>A ORCA-IN 19 13059040 13059040 single base substitution C A upstream_gene_variant ORCA-IN 19 13063791 13063791 single base substitution C A 3_prime_UTR_variant ORCA-IN 19 13063791 13063791 single base substitution C A downstream_gene_variant ORCA-IN 19 13063791 13063791 single base substitution C A exon_variant ORCA-IN 19 13063791 13063791 single base substitution C A synonymous_variant A127A 381C>A ORCA-IN 19 13063791 13063791 single base substitution C A synonymous_variant A175A 525C>A ORCA-IN 19 13063791 13063791 single base substitution C A synonymous_variant A285A 855C>A ORCA-IN 19 13063791 13063791 single base substitution C A synonymous_variant A339A 1017C>A ORCA-IN 19 13063791 13063791 single base substitution C A synonymous_variant A340A 1020C>A ORCA-IN 19 13063803 13063803 single base substitution T C 3_prime_UTR_variant ORCA-IN 19 13063803 13063803 single base substitution T C downstream_gene_variant ORCA-IN 19 13063803 13063803 single base substitution T C exon_variant ORCA-IN 19 13063803 13063803 single base substitution T C synonymous_variant C131C 393T>C ORCA-IN 19 13063803 13063803 single base substitution T C synonymous_variant C179C 537T>C ORCA-IN 19 13063803 13063803 single base substitution T C synonymous_variant C289C 867T>C ORCA-IN 19 13063803 13063803 single base substitution T C synonymous_variant C343C 1029T>C ORCA-IN 19 13063803 13063803 single base substitution T C synonymous_variant C344C 1032T>C OV-AU 19 13053980 13053980 single base substitution G T upstream_gene_variant OV-AU 19 13053985 13053985 single base substitution G A upstream_gene_variant OV-AU 19 13061096 13061096 single base substitution C G downstream_gene_variant OV-AU 19 13061096 13061096 single base substitution C G intron_variant OV-AU 19 13061096 13061096 single base substitution C G upstream_gene_variant OV-AU 19 13061627 13061627 single base substitution C T downstream_gene_variant OV-AU 19 13061627 13061627 single base substitution C T intron_variant OV-AU 19 13061627 13061627 single base substitution C T upstream_gene_variant OV-AU 19 13064179 13064179 single base substitution G A 3_prime_UTR_variant OV-AU 19 13064179 13064179 single base substitution G A downstream_gene_variant OV-AU 19 13065214 13065214 single base substitution C T downstream_gene_variant PACA-AU 19 13052116 13052116 single base substitution T A upstream_gene_variant PACA-AU 19 13054640 13054640 single base substitution G C upstream_gene_variant PACA-AU 19 13055666 13055666 single base substitution A G upstream_gene_variant PACA-AU 19 13057169 13057169 single base substitution C T intron_variant PACA-AU 19 13057169 13057169 single base substitution C T upstream_gene_variant PACA-AU 19 13066824 13066824 single base substitution C T downstream_gene_variant PACA-AU 19 13066992 13066992 single base substitution C G downstream_gene_variant PACA-AU 19 13067033 13067033 single base substitution C G downstream_gene_variant PACA-AU 19 13067301 13067301 single base substitution C G downstream_gene_variant PACA-AU 19 13068043 13068043 single base substitution C G downstream_gene_variant PACA-AU 19 13068714 13068714 single base substitution C T downstream_gene_variant PACA-AU 19 13068823 13068823 single base substitution C G downstream_gene_variant PACA-AU 19 13068882 13068882 single base substitution G T downstream_gene_variant PACA-AU 19 13069434 13069434 single base substitution C T downstream_gene_variant PACA-CA 19 13052567 13052567 single base substitution G A upstream_gene_variant PACA-CA 19 13054285 13054285 single base substitution G T upstream_gene_variant PACA-CA 19 13054286 13054286 single base substitution A C upstream_gene_variant PACA-CA 19 13057932 13057932 single base substitution T C intron_variant PACA-CA 19 13057932 13057932 single base substitution T C upstream_gene_variant PACA-CA 19 13058929 13058929 single base substitution G T intron_variant PACA-CA 19 13058929 13058929 single base substitution G T upstream_gene_variant PACA-CA 19 13059208 13059210 deletion of <=200bp TCC - intron_variant PACA-CA 19 13059208 13059210 deletion of <=200bp TCC - upstream_gene_variant PACA-CA 19 13059362 13059362 single base substitution G A 3_prime_UTR_variant PACA-CA 19 13059362 13059362 single base substitution G A exon_variant PACA-CA 19 13059362 13059362 single base substitution G A intron_variant PACA-CA 19 13059362 13059362 single base substitution G A synonymous_variant T156T 468G>A PACA-CA 19 13059362 13059362 single base substitution G A upstream_gene_variant PACA-CA 19 13062246 13062246 insertion of <=200bp - T downstream_gene_variant PACA-CA 19 13062246 13062246 insertion of <=200bp - T intron_variant PACA-CA 19 13062246 13062246 insertion of <=200bp - TT downstream_gene_variant PACA-CA 19 13062246 13062246 insertion of <=200bp - TT intron_variant PACA-CA 19 13062246 13062246 insertion of <=200bp - TT upstream_gene_variant PACA-CA 19 13062246 13062246 insertion of <=200bp - T upstream_gene_variant PACA-CA 19 13068604 13068604 single base substitution G T downstream_gene_variant PAEN-AU 19 13052436 13052436 single base substitution A C upstream_gene_variant PAEN-AU 19 13054193 13054193 single base substitution C T upstream_gene_variant PAEN-AU 19 13056955 13056955 single base substitution A C intron_variant PAEN-AU 19 13056955 13056955 single base substitution A C upstream_gene_variant PAEN-AU 19 13057084 13057084 single base substitution C G intron_variant PAEN-AU 19 13057084 13057084 single base substitution C G upstream_gene_variant PBCA-DE 19 13067727 13067742 deletion of <=200bp CTGCATGGTCGCCAGG - downstream_gene_variant PBCA-DE 19 13068701 13068702 deletion of <=200bp AC - downstream_gene_variant PRAD-CA 19 13055024 13055024 single base substitution A T upstream_gene_variant PRAD-UK 19 13056843 13056843 single base substitution C A intron_variant PRAD-UK 19 13056843 13056843 single base substitution C A upstream_gene_variant PRAD-UK 19 13062247 13062247 insertion of <=200bp - T downstream_gene_variant PRAD-UK 19 13062247 13062247 insertion of <=200bp - T intron_variant PRAD-UK 19 13062247 13062247 insertion of <=200bp - T upstream_gene_variant READ-US 19 13063857 13063857 single base substitution C T 3_prime_UTR_variant READ-US 19 13063857 13063857 single base substitution C T downstream_gene_variant READ-US 19 13063857 13063857 single base substitution C T synonymous_variant D149D 447C>T READ-US 19 13063857 13063857 single base substitution C T synonymous_variant D197D 591C>T READ-US 19 13063857 13063857 single base substitution C T synonymous_variant D307D 921C>T READ-US 19 13063857 13063857 single base substitution C T synonymous_variant D361D 1083C>T READ-US 19 13063857 13063857 single base substitution C T synonymous_variant D362D 1086C>T RECA-EU 19 13058990 13058990 single base substitution G T splice_acceptor_variant RECA-EU 19 13058990 13058990 single base substitution G T upstream_gene_variant RECA-EU 19 13065673 13065673 single base substitution C A downstream_gene_variant SKCA-BR 19 13053280 13053280 single base substitution C T upstream_gene_variant SKCA-BR 19 13054889 13054889 single base substitution A C upstream_gene_variant SKCA-BR 19 13054895 13054895 single base substitution T C upstream_gene_variant SKCA-BR 19 13054900 13054900 single base substitution G C upstream_gene_variant SKCA-BR 19 13054904 13054904 single base substitution T C upstream_gene_variant SKCA-BR 19 13055028 13055028 single base substitution C T upstream_gene_variant SKCA-BR 19 13056686 13056686 single base substitution T G 5_prime_UTR_variant SKCA-BR 19 13056686 13056686 single base substitution T G exon_variant SKCA-BR 19 13056686 13056686 single base substitution T G upstream_gene_variant SKCA-BR 19 13056883 13056883 single base substitution T G intron_variant SKCA-BR 19 13056883 13056883 single base substitution T G upstream_gene_variant SKCA-BR 19 13056888 13056888 single base substitution T G intron_variant SKCA-BR 19 13056888 13056888 single base substitution T G upstream_gene_variant SKCA-BR 19 13056894 13056894 single base substitution C G intron_variant SKCA-BR 19 13056894 13056894 single base substitution C G upstream_gene_variant SKCA-BR 19 13058369 13058369 single base substitution G A intron_variant SKCA-BR 19 13058369 13058369 single base substitution G A upstream_gene_variant SKCA-BR 19 13060267 13060267 single base substitution C T downstream_gene_variant SKCA-BR 19 13060267 13060267 single base substitution C T intron_variant SKCA-BR 19 13060267 13060267 single base substitution C T upstream_gene_variant SKCA-BR 19 13067723 13067723 single base substitution A C downstream_gene_variant SKCM-US 19 13054393 13054393 single base substitution G A upstream_gene_variant SKCM-US 19 13054702 13054702 single base substitution C T upstream_gene_variant SKCM-US 19 13058990 13058990 single base substitution G A splice_acceptor_variant SKCM-US 19 13058990 13058990 single base substitution G A upstream_gene_variant SKCM-US 19 13059062 13059062 single base substitution C T 5_prime_UTR_variant SKCM-US 19 13059062 13059062 single base substitution C T exon_variant SKCM-US 19 13059062 13059062 single base substitution C T synonymous_variant S102S 306C>T SKCM-US 19 13059062 13059062 single base substitution C T upstream_gene_variant SKCM-US 19 13059531 13059531 single base substitution G T 3_prime_UTR_variant SKCM-US 19 13059531 13059531 single base substitution G T exon_variant SKCM-US 19 13059531 13059531 single base substitution G T synonymous_variant T168T 504G>T SKCM-US 19 13059531 13059531 single base substitution G T synonymous_variant T3T 9G>T SKCM-US 19 13059531 13059531 single base substitution G T upstream_gene_variant SKCM-US 19 13059566 13059566 single base substitution T C 3_prime_UTR_variant SKCM-US 19 13059566 13059566 single base substitution T C exon_variant SKCM-US 19 13059566 13059566 single base substitution T C missense_variant V15A 44T>C SKCM-US 19 13059566 13059566 single base substitution T C missense_variant V180A 539T>C SKCM-US 19 13059566 13059566 single base substitution T C upstream_gene_variant SKCM-US 19 13063580 13063580 single base substitution G T 3_prime_UTR_variant SKCM-US 19 13063580 13063580 single base substitution G T downstream_gene_variant SKCM-US 19 13063580 13063580 single base substitution G T exon_variant SKCM-US 19 13063580 13063580 single base substitution G T intron_variant SKCM-US 19 13063580 13063580 single base substitution G T synonymous_variant V132V 396G>T SKCM-US 19 13063580 13063580 single base substitution G T synonymous_variant V296V 888G>T SKCM-US 19 13063580 13063580 single base substitution G T synonymous_variant V297V 891G>T SKCM-US 19 13063580 13063580 single base substitution G T synonymous_variant V95V 285G>T SKCM-US 19 13065339 13065339 single base substitution C T downstream_gene_variant STAD-US 19 13054412 13054412 single base substitution A G upstream_gene_variant STAD-US 19 13054654 13054674 deletion of <=200bp ATGAGGAGGATGAGGAGGACA - upstream_gene_variant STAD-US 19 13058813 13058813 single base substitution T C 5_prime_UTR_variant STAD-US 19 13058813 13058813 single base substitution T C exon_variant STAD-US 19 13058813 13058813 single base substitution T C missense_variant M75T 224T>C STAD-US 19 13058813 13058813 single base substitution T C upstream_gene_variant STAD-US 19 13059009 13059009 single base substitution A G 5_prime_UTR_variant STAD-US 19 13059009 13059009 single base substitution A G exon_variant STAD-US 19 13059009 13059009 single base substitution A G missense_variant T85A 253A>G STAD-US 19 13059009 13059009 single base substitution A G upstream_gene_variant STAD-US 19 13059068 13059068 single base substitution G A 5_prime_UTR_variant STAD-US 19 13059068 13059068 single base substitution G A exon_variant STAD-US 19 13059068 13059068 single base substitution G A synonymous_variant P104P 312G>A STAD-US 19 13059068 13059068 single base substitution G A upstream_gene_variant STAD-US 19 13059096 13059096 deletion of <=200bp C - 5_prime_UTR_variant STAD-US 19 13059096 13059096 deletion of <=200bp C - exon_variant STAD-US 19 13059096 13059096 deletion of <=200bp C - frameshift_variant P114 STAD-US 19 13059096 13059096 deletion of <=200bp C - upstream_gene_variant STAD-US 19 13059627 13059627 single base substitution G A exon_variant STAD-US 19 13059627 13059627 single base substitution G A splice_region_variant STAD-US 19 13059627 13059627 single base substitution G A upstream_gene_variant STAD-US 19 13059913 13059913 single base substitution G A 3_prime_UTR_variant STAD-US 19 13059913 13059913 single base substitution G A exon_variant STAD-US 19 13059913 13059913 single base substitution G A intron_variant STAD-US 19 13059913 13059913 single base substitution G A missense_variant E207K 619G>A STAD-US 19 13059913 13059913 single base substitution G A missense_variant E42K 124G>A STAD-US 19 13059913 13059913 single base substitution G A missense_variant E6K 16G>A STAD-US 19 13059913 13059913 single base substitution G A upstream_gene_variant STAD-US 19 13060124 13060124 single base substitution C T 3_prime_UTR_variant STAD-US 19 13060124 13060124 single base substitution C T downstream_gene_variant STAD-US 19 13060124 13060124 single base substitution C T exon_variant STAD-US 19 13060124 13060124 single base substitution C T missense_variant P238S 712C>T STAD-US 19 13060124 13060124 single base substitution C T missense_variant P239S 715C>T STAD-US 19 13060124 13060124 single base substitution C T missense_variant P37S 109C>T STAD-US 19 13060124 13060124 single base substitution C T missense_variant P74S 220C>T STAD-US 19 13060124 13060124 single base substitution C T upstream_gene_variant STAD-US 19 13060204 13060204 single base substitution G T 3_prime_UTR_variant STAD-US 19 13060204 13060204 single base substitution G T downstream_gene_variant STAD-US 19 13060204 13060204 single base substitution G T exon_variant STAD-US 19 13060204 13060204 single base substitution G T missense_variant E100D 300G>T STAD-US 19 13060204 13060204 single base substitution G T missense_variant E264D 792G>T STAD-US 19 13060204 13060204 single base substitution G T missense_variant E265D 795G>T STAD-US 19 13060204 13060204 single base substitution G T missense_variant E63D 189G>T STAD-US 19 13060204 13060204 single base substitution G T upstream_gene_variant STAD-US 19 13063564 13063564 single base substitution C T 3_prime_UTR_variant STAD-US 19 13063564 13063564 single base substitution C T downstream_gene_variant STAD-US 19 13063564 13063564 single base substitution C T exon_variant STAD-US 19 13063564 13063564 single base substitution C T intron_variant STAD-US 19 13063564 13063564 single base substitution C T missense_variant A127V 380C>T STAD-US 19 13063564 13063564 single base substitution C T missense_variant A291V 872C>T STAD-US 19 13063564 13063564 single base substitution C T missense_variant A292V 875C>T STAD-US 19 13063564 13063564 single base substitution C T missense_variant A90V 269C>T THCA-SA 19 13063565 13063565 single base substitution G A 3_prime_UTR_variant THCA-SA 19 13063565 13063565 single base substitution G A downstream_gene_variant THCA-SA 19 13063565 13063565 single base substitution G A exon_variant THCA-SA 19 13063565 13063565 single base substitution G A intron_variant THCA-SA 19 13063565 13063565 single base substitution G A synonymous_variant A127A 381G>A THCA-SA 19 13063565 13063565 single base substitution G A synonymous_variant A291A 873G>A THCA-SA 19 13063565 13063565 single base substitution G A synonymous_variant A292A 876G>A THCA-SA 19 13063565 13063565 single base substitution G A synonymous_variant A90A 270G>A THCA-SA 19 13064338 13064338 single base substitution G A 3_prime_UTR_variant THCA-SA 19 13064338 13064338 single base substitution G A downstream_gene_variant THCA-SA 19 13067936 13067936 single base substitution G T downstream_gene_variant UCEC-US 19 13058701 13058701 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 19 13058701 13058701 single base substitution C T exon_variant UCEC-US 19 13058701 13058701 single base substitution C T missense_variant R38C 112C>T UCEC-US 19 13058701 13058701 single base substitution C T upstream_gene_variant UCEC-US 19 13058806 13058806 single base substitution G T 5_prime_UTR_variant UCEC-US 19 13058806 13058806 single base substitution G T exon_variant UCEC-US 19 13058806 13058806 single base substitution G T missense_variant V73F 217G>T UCEC-US 19 13058806 13058806 single base substitution G T upstream_gene_variant UCEC-US 19 13060223 13060223 single base substitution G C downstream_gene_variant UCEC-US 19 13060223 13060223 single base substitution G C splice_donor_variant UCEC-US 19 13060223 13060223 single base substitution G C upstream_gene_variant UCEC-US 19 13063595 13063595 single base substitution C T 3_prime_UTR_variant UCEC-US 19 13063595 13063595 single base substitution C T downstream_gene_variant UCEC-US 19 13063595 13063595 single base substitution C T exon_variant UCEC-US 19 13063595 13063595 single base substitution C T intron_variant UCEC-US 19 13063595 13063595 single base substitution C T synonymous_variant G100G 300C>T UCEC-US 19 13063595 13063595 single base substitution C T synonymous_variant G137G 411C>T UCEC-US 19 13063595 13063595 single base substitution C T synonymous_variant G301G 903C>T UCEC-US 19 13063595 13063595 single base substitution C T synonymous_variant G302G 906C>T UCEC-US 19 13065170 13065170 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C086 COSM5537966 c.540C>T p.V180V Substitution - coding silent 19:12948753-12948753 + TCGA-RC-A7SK-01 COSM4918627 c.38A>C p.Q13P Substitution - Missense 19:12945986-12945986 + OV207 COSM253083 c.830_832delAGG p.E278delE Deletion - In frame 19:12952705-12952707 + TCGA-A8-A09Z-01 COSM5202394 c.894delG p.E300fs*5 Deletion - Frameshift 19:12952769-12952769 + OSCC-GB_00620111 COSM4881278 c.1020C>A p.A340A Substitution - coding silent 19:12952977-12952977 + TCGA-DK-A2I4-01 COSM3796670 c.376G>C p.E126Q Substitution - Missense 19:12948318-12948318 + ESO-1130 COSM1263720 c.745C>T p.Q249* Substitution - Nonsense 19:12949340-12949340 + TCGA-D3-A1Q6-06 COSM3528937 c.504G>T p.T168T Substitution - coding silent 19:12948717-12948717 + TCGA-66-2787-01 COSM709888 c.536G>T p.R179L Substitution - Missense 19:12948749-12948749 + SW48 COSM2817030 c.29T>G p.L10R Substitution - Missense 19:12945977-12945977 + SNU-C2B COSM2817056 c.950C>T p.T317M Substitution - Missense 19:12952825-12952825 + C608 COSM4442813 c.494C>T p.T165M Substitution - Missense 19:12948707-12948707 + RMS214 COSM5881126 c.391A>G p.T131A Substitution - Missense 19:12948333-12948333 + ACA44 COSM5961684 c.766C>T p.P256S Substitution - Missense 19:12949361-12949361 + PCSI_0081_Pa_P_526 COSM4963179 c.468G>A p.T156T Substitution - coding silent 19:12948548-12948548 + OSCC-GB_01060111 COSM4882743 c.284C>A p.A95D Substitution - Missense 19:12948226-12948226 + TCGA-HU-A4GU-01 COSM4074542 c.619G>A p.E207K Substitution - Missense 19:12949099-12949099 + TCGA-AP-A059-01 COSM991548 c.217G>T p.V73F Substitution - Missense 19:12947992-12947992 + TCGA-HU-8604-01 COSM4074541 c.600G>A p.T200T Substitution - coding silent 19:12948813-12948813 + 467 COSM4437315 c.1012A>G p.I338V Substitution - Missense 19:12952969-12952969 + LAU165 COSM233228 c.581C>T p.A194V Substitution - Missense 19:12948794-12948794 + TCGA-IR-A3LA-01 COSM4844716 c.428C>G p.S143C Substitution - Missense 19:12948508-12948508 + BD72T COSM2817052 c.813G>A p.Q271Q Substitution - coding silent 19:12949408-12949408 + BN43T COSM1611605 c.742A>G p.I248V Substitution - Missense 19:12949337-12949337 + PD7301a COSM1638335 c.365A>G p.K122R Substitution - Missense 19:12948307-12948307 + YUHOIN COSM1711888 c.1022A>C p.Y341S Substitution - Missense 19:12952979-12952979 + SJHGG104_D COSM4971838 c.536G>A p.R179Q Substitution - Missense 19:12948749-12948749 + CCK81 COSM2817056 c.950C>T p.T317M Substitution - Missense 19:12952825-12952825 + TCGA-D1-A17R-01 COSM991549 c.813+1G>C p.? Unknown 19:12949409-12949409 + TC32 COSM4580657 c.9C>T p.V3V Substitution - coding silent 19:12945957-12945957 + TCGA-CF-A27C-01 COSM1304056 c.612G>A p.G204G Substitution - coding silent 19:12949092-12949092 + TCGA-AH-6897-01 COSM2817060 c.1086C>T p.D362D Substitution - coding silent 19:12953043-12953043 + BN28T COSM1611604 c.189C>G p.D63E Substitution - Missense 19:12947964-12947964 + TCGA-31-1953-01 COSM117512 c.1074G>C p.Q358H Substitution - Missense 19:12953031-12953031 + PD4252a COSM5784910 c.672G>A p.T224T Substitution - coding silent 19:12949152-12949152 + PR-00-1165 COSM246933 c.40A>G p.T14A Substitution - Missense 19:12945988-12945988 + SNUH_G25_S1 COSM3680786 c.679G>C p.A227P Substitution - Missense 19:12949159-12949159 + SNUH_G29_S1 COSM3680786 c.679G>C p.A227P Substitution - Missense 19:12949159-12949159 + TCGA-EE-A3AG-06 COSM3528936 c.306C>T p.S102S Substitution - coding silent 19:12948248-12948248 + T368 COSM4719948 c.903G>T p.V301V Substitution - coding silent 19:12952778-12952778 + T3152 COSM4719949 c.972_973delAG p.R326fs*19 Deletion - Frameshift 19:12952847-12952848 + YUPAT COSM1711887 c.577C>T p.R193* Substitution - Nonsense 19:12948790-12948790 + Pat_01_B COSM1711887 c.577C>T p.R193* Substitution - Nonsense 19:12948790-12948790 + TCGA-FS-A1ZD-06 COSM3528938 c.891G>T p.V297V Substitution - coding silent 19:12952766-12952766 + TCGA-BR-8680-01 COSM4074544 c.795G>T p.E265D Substitution - Missense 19:12949390-12949390 + TCGA-CM-5341-01 COSM3692384 c.521G>A p.G174D Substitution - Missense 19:12948734-12948734 + SC_9086 COSM5562152 c.954G>A p.P318P Substitution - coding silent 19:12952829-12952829 + HCC2998 COSM2817059 c.1078T>G p.F360V Substitution - Missense 19:12953035-12953035 + TCGA-BG-A0VX-01 COSM991550 c.906C>T p.G302G Substitution - coding silent 19:12952781-12952781 + TCGA-CJ-4895-01 COSM3362669 c.78G>A p.K26K Substitution - coding silent 19:12947853-12947853 + ESCC_50 COSM5630890 c.924C>A p.A308A Substitution - coding silent 19:12952799-12952799 + T3174 COSM4719947 c.543G>T p.V181V Substitution - coding silent 19:12948756-12948756 + TCGA-22-5473-01 COSM709887 c.685G>A p.E229K Substitution - Missense 19:12949280-12949280 + B105-0-Tumor COSM1750668 c.219C>T p.V73V Substitution - coding silent 19:12947994-12947994 + 2492729 COSM5726001 c.602G>A p.G201E Substitution - Missense 19:12949082-12949082 + OSCC-GB_00910111 COSM4888190 c.1032T>C p.C344C Substitution - coding silent 19:12952989-12952989 + Pat_54_A COSM5854728 c.718C>T p.Q240* Substitution - Nonsense 19:12949313-12949313 + T3090 COSM4074542 c.619G>A p.E207K Substitution - Missense 19:12949099-12949099 + TCGA-CG-5728-01 COSM4074545 c.875C>T p.A292V Substitution - Missense 19:12952750-12952750 + SNUH_G35_S1 COSM3680786 c.679G>C p.A227P Substitution - Missense 19:12949159-12949159 + TCGA-B5-A0JY-01 COSM991547 c.112C>T p.R38C Substitution - Missense 19:12947887-12947887 + 35M COSM5582297 c.689A>C p.N230T Substitution - Missense 19:12949284-12949284 + Br27P COSM40532 c.472+4G>A p.? Unknown 19:12948556-12948556 + SNU-175 COSM2817032 c.141A>C p.K47N Substitution - Missense 19:12947916-12947916 + TCGA-EE-A2MD-06 COSM3528935 c.235-1G>A p.? Unknown 19:12948176-12948176 + T263 COSM4719950 c.1033_1034insA p.N347fs*2 Insertion - Frameshift 19:12952990-12952991 + TCGA-AR-A256-01 COSM1480605 c.431C>G p.S144* Substitution - Nonsense 19:12948511-12948511 + PD7220a COSM5769045 c.920A>C p.E307A Substitution - Missense 19:12952795-12952795 + DLD1 COSM2817057 c.959A>T p.E320V Substitution - Missense 19:12952834-12952834 + TCGA-A6-5665-01 COSM1390694 c.738G>T p.Q246H Substitution - Missense 19:12949333-12949333 + TCGA-HU-8249-01 COSM4074540 c.312G>A p.P104P Substitution - coding silent 19:12948254-12948254 + HT115 COSM2817047 c.687G>T p.E229D Substitution - Missense 19:12949282-12949282 + TCGA-A2-A0T5-01 COSM3822044 c.345A>C p.P115P Substitution - coding silent 19:12948287-12948287 + TCGA-BR-4361-01 COSM4074538 c.224T>C p.M75T Substitution - Missense 19:12947999-12947999 + STC252 COSM5056249 c.573C>A p.P191P Substitution - coding silent 19:12948786-12948786 + SNUH_G16_S1 COSM3680786 c.679G>C p.A227P Substitution - Missense 19:12949159-12949159 + BN28 COSM1611604 c.189C>G p.D63E Substitution - Missense 19:12947964-12947964 + ESO-0029 COSM1263719 c.927G>A p.P309P Substitution - coding silent 19:12952802-12952802 + 587226 COSM1222991 c.205A>G p.K69E Substitution - Missense 19:12947980-12947980 + HCT15 COSM2817057 c.959A>T p.E320V Substitution - Missense 19:12952834-12952834 + PT08_2 COSM5894680 c.913G>A p.G305R Substitution - Missense 19:12952788-12952788 + YUGURT COSM5388694 c.465C>T p.S155S Substitution - coding silent 19:12948545-12948545 + 79 COSM5015584 c.959A>C p.E320A Substitution - Missense 19:12952834-12952834 + TCGA-RC-A7SK-01 COSM4918676 c.32A>C p.Q11P Substitution - Missense 19:12945980-12945980 + C0073T COSM4154055 c.235-1G>T p.? Unknown 19:12948176-12948176 + TCGA-CM-6162-01 COSM1390695 c.856G>A p.E286K Substitution - Missense 19:12952731-12952731 + SNUH_G36_S1 COSM3680786 c.679G>C p.A227P Substitution - Missense 19:12949159-12949159 + TCGA-CG-5721-01 COSM4074539 c.253A>G p.T85A Substitution - Missense 19:12948195-12948195 + TCGA-BR-6566-01 COSM4074543 c.715C>T p.P239S Substitution - Missense 19:12949310-12949310 + TCGA-D9-A6EC-06 COSM4406150 c.539T>C p.V180A Substitution - Missense 19:12948752-12948752 + TCGA-A6-5661-01 COSM1390693 c.665C>T p.P222L Substitution - Missense 19:12949145-12949145 + B105-0 COSM1750668 c.219C>T p.V73V Substitution - coding silent 19:12947994-12947994 + TCGA-BH-A0B6-01 COSM3822045 c.552G>C p.L184L Substitution - coding silent 19:12948765-12948765 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.643174;Hs.643261;Hs.643267 19p13.2 600061 2428627|CGAP|BC014026|A/G|non-coding||1627|Validated; 2428627|CGAP|BC088364|A/G|non-coding||1627|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.M244L c.730A>T 19 13060139 HNSC C G Nonsense p.S144* c.431C>G 19 13059325 BRCA - C IntronicInsertion . c.813+159dupC 19 13060376 ESCA C T Missense p.A292V c.875C>T 19 13063564 STAD C T Missense p.P206S c.616C>T 19 13059910 CM C T Missense p.T77I c.230C>T 19 13058819 COREAD C T Nonsense p.Q249* c.745C>T 19 13060154 ESCA C T Synonymous p.G302G c.906C>T 19 13063595 UCEC C T Synonymous p.P206P c.618C>T 19 13059912 CM C T Synonymous p.S102S c.306C>T 19 13059062 CM G A IntronicSNV . c.472+4G>A 19 13059370 GBM G A IntronicSNV . c.600+62G>A 19 13059689 NSCLC G A Missense p.E229K c.685G>A 19 13060094 LUSC G A Missense p.E325K c.973G>A 19 13063662 LUAD G A SpliceAcceptorSNV . c.235-1G>A 19 13058990 CM G A Synonymous p.G204G c.612G>A 19 13059906 BLCA G A Synonymous p.K26K c.78G>A 19 13058667 RCCC G A Synonymous p.P309P c.927G>A 19 13063616 ESCA G C Missense p.E126Q c.376G>C 19 13059132 BLCA G C Missense p.Q358H c.1074G>C 19 13063845 OV G C SpliceDonorSNV . c.813+1G>C 19 13060223 UCEC GG AA Missense p.G289E c.866_867delinsAA 19 13063555 CM G T Missense p.R179L c.536G>T 19 13059563 LUSC G T Synonymous p.T168T c.504G>T 19 13059531 CM G T Synonymous p.V297V c.891G>T 19 13063580 CM