Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 180622175 180622175 + Missense_Mutation SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 g.chr5:180622175G>C c.1527C>G c.(1525-1527)atC>atG p.I509M BLCA 5 180622261 180622261 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 g.chr5:180622261G>A c.1441C>T c.(1441-1443)Cgc>Tgc p.R481C BLCA 5 180625764 180625764 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr5:180625764G>C c.914C>G c.(913-915)tCt>tGt p.S305C BLCA 5 180625769 180625769 + Silent SNP G G A TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr5:180625769G>A c.909C>T c.(907-909)gtC>gtT p.V303V BLCA 5 180627003 180627003 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:180627003G>A c.697C>T c.(697-699)Cgg>Tgg p.R233W BRCA 5 180626095 180626095 + Splice_Site SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 g.chr5:180626095C>T c.872G>A c.(871-873)aGg>aAg p.R291K BRCA 5 180627053 180627053 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:180627053A>C c.647T>G c.(646-648)gTg>gGg p.V216G CESC 5 180622600 180622600 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr5:180622600C>T c.1102G>A c.(1102-1104)Gag>Aag p.E368K CESC 5 180625192 180625192 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr5:180625192C>G c.1015G>C c.(1015-1017)Gag>Cag p.E339Q CESC 5 180626112 180626112 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 g.chr5:180626112G>T c.855C>A c.(853-855)ttC>ttA p.F285L CESC 5 180631636 180631636 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr5:180631636G>C c.475C>G c.(475-477)Cgc>Ggc p.R159G COAD 5 180622241 180622241 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:180622241G>A c.1461C>T c.(1459-1461)cgC>cgT p.R487R COAD 5 180622324 180622324 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr5:180622324G>A c.1378C>T c.(1378-1380)Cgc>Tgc p.R460C COAD 5 180622589 180622589 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:180622589C>A c.1113G>T c.(1111-1113)caG>caT p.Q371H COAD 5 180622643 180622643 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:180622643C>T c.1059G>A c.(1057-1059)ccG>ccA p.P353P COAD 5 180625205 180625205 + Silent SNP T T G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:180625205T>G c.1002A>C c.(1000-1002)ggA>ggC p.G334G COAD 5 180625728 180625728 + Missense_Mutation SNP T T G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr5:180625728T>G c.950A>C c.(949-951)aAg>aCg p.K317T COAD 5 180626117 180626117 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:180626117C>T c.850G>A c.(850-852)Gaa>Aaa p.E284K COAD 5 180627012 180627012 + Missense_Mutation SNP G G T TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr5:180627012G>T c.688C>A c.(688-690)Cag>Aag p.Q230K COADREAD 5 180622241 180622241 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:180622241G>A c.1461C>T c.(1459-1461)cgC>cgT p.R487R COADREAD 5 180622324 180622324 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr5:180622324G>A c.1378C>T c.(1378-1380)Cgc>Tgc p.R460C COADREAD 5 180622589 180622589 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:180622589C>A c.1113G>T c.(1111-1113)caG>caT p.Q371H COADREAD 5 180622643 180622643 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:180622643C>T c.1059G>A c.(1057-1059)ccG>ccA p.P353P COADREAD 5 180625205 180625205 + Silent SNP T T G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:180625205T>G c.1002A>C c.(1000-1002)ggA>ggC p.G334G COADREAD 5 180625728 180625728 + Missense_Mutation SNP T T G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr5:180625728T>G c.950A>C c.(949-951)aAg>aCg p.K317T COADREAD 5 180626117 180626117 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:180626117C>T c.850G>A c.(850-852)Gaa>Aaa p.E284K COADREAD 5 180627012 180627012 + Missense_Mutation SNP G G T TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr5:180627012G>T c.688C>A c.(688-690)Cag>Aag p.Q230K ESCA 5 180622300 180622300 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr5:180622300C>G c.1402G>C c.(1402-1404)Gag>Cag p.E468Q ESCA 5 180630635 180630635 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr5:180630635G>T c.528C>A c.(526-528)ctC>ctA p.L176L GBM 5 180622296 180622296 + Missense_Mutation SNP A A G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr5:180622296A>G c.1406T>C c.(1405-1407)gTg>gCg p.V469A GBM 5 180625194 180625194 + Missense_Mutation SNP T T A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr5:180625194T>A c.1013A>T c.(1012-1014)aAa>aTa p.K338I GBMLGG 5 180622296 180622296 + Missense_Mutation SNP A A G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr5:180622296A>G c.1406T>C c.(1405-1407)gTg>gCg p.V469A GBMLGG 5 180622600 180622600 + Missense_Mutation SNP C C T TCGA-FG-6689-01A-11D-1893-08 TCGA-FG-6689-10A-01D-1893-08 g.chr5:180622600C>T c.1102G>A c.(1102-1104)Gag>Aag p.E368K GBMLGG 5 180625194 180625194 + Missense_Mutation SNP T T A TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr5:180625194T>A c.1013A>T c.(1012-1014)aAa>aTa p.K338I HNSC 5 180622618 180622618 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr5:180622618T>G c.1084A>C c.(1084-1086)Aag>Cag p.K362Q HNSC 5 180627055 180627055 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 g.chr5:180627055C>T c.645G>A c.(643-645)aaG>aaA p.K215K HNSC 5 180631987 180631987 + Frame_Shift_Del DEL C C - TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 g.chr5:180631987delC c.124delG c.(124-126)gtcfs p.V42fs LGG 5 180622600 180622600 + Missense_Mutation SNP C C T TCGA-FG-6689-01A-11D-1893-08 TCGA-FG-6689-10A-01D-1893-08 g.chr5:180622600C>T c.1102G>A c.(1102-1104)Gag>Aag p.E368K LIHC 5 180622567 180622567 + Missense_Mutation SNP G G A TCGA-2Y-A9H4-01A-11D-A382-10 TCGA-2Y-A9H4-10A-01D-A385-10 g.chr5:180622567G>A c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C LIHC 5 180622632 180622632 + Missense_Mutation SNP A A G TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr5:180622632A>G c.1070T>C c.(1069-1071)cTc>cCc p.L357P LIHC 5 180626894 180626894 + Missense_Mutation SNP T T A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr5:180626894T>A c.806A>T c.(805-807)cAg>cTg p.Q269L LUAD 5 180625764 180625764 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr5:180625764G>C c.914C>G c.(913-915)tCt>tGt p.S305C LUSC 5 180622557 180622557 + Missense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr5:180622557G>T c.1145C>A c.(1144-1146)aCc>aAc p.T382N LUSC 5 180625213 180625213 + Missense_Mutation SNP G G T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr5:180625213G>T c.994C>A c.(994-996)Ctt>Att p.L332I LUSC 5 180625213 180625213 + Missense_Mutation SNP G G T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 g.chr5:180625213G>T c.994C>A c.(994-996)Ctt>Att p.L332I OV 5 180627010 180627010 + Silent SNP C C T TCGA-13-1495-01A-01W-0545-08 TCGA-13-1495-10A-01D-0472-08 g.chr5:180627010C>T c.690G>A c.(688-690)caG>caA p.Q230Q OV 5 180627120 180627120 + Intron SNP G G A TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 g.chr5:180627120G>A PAAD 5 180622208 180622208 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:180622208G>A c.1494C>T c.(1492-1494)ttC>ttT p.F498F PRAD 5 180622224 180622224 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:180622224C>T c.1478G>A c.(1477-1479)cGc>cAc p.R493H SARC 5 180622493 180622493 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 g.chr5:180622493C>T c.1209G>A c.(1207-1209)gtG>gtA p.V403V SARC 5 180622664 180622664 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 g.chr5:180622664C>T c.1038G>A c.(1036-1038)ttG>ttA p.L346L SKCM 5 180622589 180622589 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr5:180622589C>T c.1113G>A c.(1111-1113)caG>caA p.Q371Q SKCM 5 180622600 180622600 + Nonsense_Mutation SNP C C A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr5:180622600C>A c.1102G>T c.(1102-1104)Gag>Tag p.E368* SKCM 5 180625700 180625700 + Silent SNP C C T TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr5:180625700C>T c.978G>A c.(976-978)aaG>aaA p.K326K SKCM 5 180625718 180625718 + Silent SNP G G T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:180625718G>T c.960C>A c.(958-960)gtC>gtA p.V320V SKCM 5 180625727 180625727 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr5:180625727C>T c.951G>A c.(949-951)aaG>aaA p.K317K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 180625764 180625764 single base substitution G C downstream_gene_variant BLCA-US 5 180625764 180625764 single base substitution G C missense_variant S123C 368C>G BLCA-US 5 180625764 180625764 single base substitution G C missense_variant S305C 914C>G BLCA-US 5 180625764 180625764 single base substitution G C missense_variant S97C 290C>G BLCA-US 5 180625764 180625764 single base substitution G C upstream_gene_variant BRCA-EU 5 180615937 180615937 single base substitution T A downstream_gene_variant BRCA-EU 5 180616083 180616083 single base substitution C T downstream_gene_variant BRCA-EU 5 180617270 180617270 single base substitution G A downstream_gene_variant BRCA-EU 5 180618010 180618010 single base substitution C A downstream_gene_variant BRCA-EU 5 180618291 180618291 single base substitution A T downstream_gene_variant BRCA-EU 5 180618705 180618705 single base substitution A T downstream_gene_variant BRCA-EU 5 180618754 180618754 single base substitution G T downstream_gene_variant BRCA-EU 5 180619735 180619735 single base substitution G A downstream_gene_variant BRCA-EU 5 180621466 180621466 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 180621466 180621466 single base substitution G A downstream_gene_variant BRCA-EU 5 180621466 180621466 single base substitution G A exon_variant BRCA-EU 5 180622443 180622443 single base substitution C T exon_variant BRCA-EU 5 180622443 180622443 single base substitution C T missense_variant R212Q 635G>A BRCA-EU 5 180622443 180622443 single base substitution C T missense_variant R238Q 713G>A BRCA-EU 5 180622443 180622443 single base substitution C T missense_variant R420Q 1259G>A BRCA-EU 5 180623290 180623290 single base substitution G A exon_variant BRCA-EU 5 180623290 180623290 single base substitution G A intron_variant BRCA-EU 5 180623324 180623324 single base substitution G C exon_variant BRCA-EU 5 180623324 180623324 single base substitution G C intron_variant BRCA-EU 5 180623548 180623548 single base substitution C G exon_variant BRCA-EU 5 180623548 180623548 single base substitution C G intron_variant BRCA-EU 5 180625861 180625861 single base substitution T C downstream_gene_variant BRCA-EU 5 180625861 180625861 single base substitution T C intron_variant BRCA-EU 5 180625861 180625861 single base substitution T C upstream_gene_variant BRCA-EU 5 180627403 180627403 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 5 180627403 180627403 single base substitution G A downstream_gene_variant BRCA-EU 5 180627403 180627403 single base substitution G A intron_variant BRCA-EU 5 180627403 180627403 single base substitution G A upstream_gene_variant BRCA-EU 5 180628031 180628031 single base substitution G C downstream_gene_variant BRCA-EU 5 180628031 180628031 single base substitution G C intron_variant BRCA-EU 5 180628031 180628031 single base substitution G C upstream_gene_variant BRCA-EU 5 180628391 180628391 single base substitution G A downstream_gene_variant BRCA-EU 5 180628391 180628391 single base substitution G A intron_variant BRCA-EU 5 180628391 180628391 single base substitution G A upstream_gene_variant BRCA-EU 5 180629796 180629796 single base substitution C G downstream_gene_variant BRCA-EU 5 180629796 180629796 single base substitution C G intron_variant BRCA-EU 5 180629796 180629796 single base substitution C G upstream_gene_variant BRCA-EU 5 180631844 180631844 single base substitution C T synonymous_variant Q89Q 267G>A BRCA-EU 5 180631844 180631844 single base substitution C T upstream_gene_variant BRCA-EU 5 180632466 180632466 single base substitution C G upstream_gene_variant BRCA-EU 5 180633840 180633840 single base substitution C A upstream_gene_variant BRCA-EU 5 180633869 180633869 single base substitution G C upstream_gene_variant BRCA-EU 5 180633877 180633877 single base substitution G A upstream_gene_variant BRCA-EU 5 180633939 180633939 single base substitution A G upstream_gene_variant BRCA-EU 5 180633971 180633971 single base substitution G C upstream_gene_variant BRCA-EU 5 180633984 180633984 single base substitution A G upstream_gene_variant BRCA-EU 5 180634775 180634775 single base substitution A G upstream_gene_variant BRCA-EU 5 180634794 180634794 single base substitution C T upstream_gene_variant BRCA-EU 5 180634837 180634837 single base substitution C A upstream_gene_variant BRCA-EU 5 180635164 180635164 deletion of <=200bp C - upstream_gene_variant BRCA-EU 5 180635179 180635179 single base substitution A T upstream_gene_variant BRCA-EU 5 180635426 180635426 single base substitution A T upstream_gene_variant BRCA-EU 5 180635992 180635992 single base substitution C A upstream_gene_variant BRCA-EU 5 180636377 180636377 single base substitution C G upstream_gene_variant BRCA-EU 5 180636600 180636600 single base substitution T C upstream_gene_variant BRCA-EU 5 180636962 180636962 single base substitution T G upstream_gene_variant BRCA-FR 5 180618010 180618010 single base substitution C A downstream_gene_variant BRCA-FR 5 180618956 180618956 single base substitution C G downstream_gene_variant BRCA-FR 5 180620470 180620470 single base substitution G A downstream_gene_variant BRCA-FR 5 180621466 180621466 single base substitution G A 3_prime_UTR_variant BRCA-FR 5 180621466 180621466 single base substitution G A downstream_gene_variant BRCA-FR 5 180621466 180621466 single base substitution G A exon_variant BRCA-FR 5 180623290 180623290 single base substitution G A exon_variant BRCA-FR 5 180623290 180623290 single base substitution G A intron_variant BRCA-FR 5 180623548 180623548 single base substitution C G exon_variant BRCA-FR 5 180623548 180623548 single base substitution C G intron_variant BRCA-FR 5 180624723 180624723 single base substitution G A exon_variant BRCA-FR 5 180624723 180624723 single base substitution G A intron_variant BRCA-FR 5 180628031 180628031 single base substitution G C downstream_gene_variant BRCA-FR 5 180628031 180628031 single base substitution G C intron_variant BRCA-FR 5 180628031 180628031 single base substitution G C upstream_gene_variant BRCA-FR 5 180628391 180628391 single base substitution G A downstream_gene_variant BRCA-FR 5 180628391 180628391 single base substitution G A intron_variant BRCA-FR 5 180628391 180628391 single base substitution G A upstream_gene_variant BRCA-FR 5 180633321 180633321 single base substitution G A upstream_gene_variant BRCA-FR 5 180636377 180636377 single base substitution C G upstream_gene_variant BRCA-UK 5 180626877 180626877 single base substitution G C downstream_gene_variant BRCA-UK 5 180626877 180626877 single base substitution G C missense_variant Q275E 823C>G BRCA-UK 5 180626877 180626877 single base substitution G C missense_variant Q67E 199C>G BRCA-UK 5 180626877 180626877 single base substitution G C missense_variant Q93E 277C>G BRCA-UK 5 180626877 180626877 single base substitution G C upstream_gene_variant BRCA-US 5 180626095 180626095 single base substitution C T downstream_gene_variant BRCA-US 5 180626095 180626095 single base substitution C T missense_variant R109K 326G>A BRCA-US 5 180626095 180626095 single base substitution C T missense_variant R291K 872G>A BRCA-US 5 180626095 180626095 single base substitution C T missense_variant R83K 248G>A BRCA-US 5 180626095 180626095 single base substitution C T upstream_gene_variant BRCA-US 5 180627053 180627053 single base substitution A C downstream_gene_variant BRCA-US 5 180627053 180627053 single base substitution A C missense_variant V216G 647T>G BRCA-US 5 180627053 180627053 single base substitution A C missense_variant V34G 101T>G BRCA-US 5 180627053 180627053 single base substitution A C missense_variant V8G 23T>G BRCA-US 5 180627053 180627053 single base substitution A C upstream_gene_variant BRCA-US 5 180630381 180630381 single base substitution C T 3_prime_UTR_variant BRCA-US 5 180630381 180630381 single base substitution C T exon_variant BRCA-US 5 180630381 180630381 single base substitution C T intron_variant BRCA-US 5 180630381 180630381 single base substitution C T upstream_gene_variant BTCA-JP 5 180622354 180622354 single base substitution G A exon_variant BTCA-JP 5 180622354 180622354 single base substitution G A missense_variant R242W 724C>T BTCA-JP 5 180622354 180622354 single base substitution G A missense_variant R268W 802C>T BTCA-JP 5 180622354 180622354 single base substitution G A missense_variant R450W 1348C>T BTCA-JP 5 180625567 180625567 single base substitution T C downstream_gene_variant BTCA-JP 5 180625567 180625567 single base substitution T C intron_variant BTCA-JP 5 180631876 180631876 single base substitution G A missense_variant P79S 235C>T BTCA-JP 5 180631876 180631876 single base substitution G A upstream_gene_variant CESC-US 5 180622600 180622600 single base substitution C T exon_variant CESC-US 5 180622600 180622600 single base substitution C T missense_variant E160K 478G>A CESC-US 5 180622600 180622600 single base substitution C T missense_variant E186K 556G>A CESC-US 5 180622600 180622600 single base substitution C T missense_variant E368K 1102G>A CESC-US 5 180625192 180625192 single base substitution C G downstream_gene_variant CESC-US 5 180625192 180625192 single base substitution C G exon_variant CESC-US 5 180625192 180625192 single base substitution C G missense_variant E131Q 391G>C CESC-US 5 180625192 180625192 single base substitution C G missense_variant E157Q 469G>C CESC-US 5 180625192 180625192 single base substitution C G missense_variant E339Q 1015G>C CESC-US 5 180625263 180625263 single base substitution G C downstream_gene_variant CESC-US 5 180625263 180625263 single base substitution G C intron_variant CESC-US 5 180626112 180626112 single base substitution G T downstream_gene_variant CESC-US 5 180626112 180626112 single base substitution G T missense_variant F103L 309C>A CESC-US 5 180626112 180626112 single base substitution G T missense_variant F285L 855C>A CESC-US 5 180626112 180626112 single base substitution G T missense_variant F77L 231C>A CESC-US 5 180626112 180626112 single base substitution G T upstream_gene_variant CESC-US 5 180631636 180631636 single base substitution G C missense_variant R159G 475C>G CESC-US 5 180631636 180631636 single base substitution G C upstream_gene_variant CLLE-ES 5 180626225 180626225 single base substitution G A downstream_gene_variant CLLE-ES 5 180626225 180626225 single base substitution G A intron_variant CLLE-ES 5 180626225 180626225 single base substitution G A upstream_gene_variant COAD-US 5 180622241 180622241 single base substitution G A exon_variant COAD-US 5 180622241 180622241 single base substitution G A synonymous_variant R279R 837C>T COAD-US 5 180622241 180622241 single base substitution G A synonymous_variant R305R 915C>T COAD-US 5 180622241 180622241 single base substitution G A synonymous_variant R487R 1461C>T COAD-US 5 180622324 180622324 single base substitution G A exon_variant COAD-US 5 180622324 180622324 single base substitution G A missense_variant R252C 754C>T COAD-US 5 180622324 180622324 single base substitution G A missense_variant R278C 832C>T COAD-US 5 180622324 180622324 single base substitution G A missense_variant R460C 1378C>T COAD-US 5 180622447 180622447 single base substitution G A exon_variant COAD-US 5 180622447 180622447 single base substitution G A missense_variant R211C 631C>T COAD-US 5 180622447 180622447 single base substitution G A missense_variant R237C 709C>T COAD-US 5 180622447 180622447 single base substitution G A missense_variant R419C 1255C>T COAD-US 5 180622531 180622531 single base substitution C A exon_variant COAD-US 5 180622531 180622531 single base substitution C A missense_variant G183C 547G>T COAD-US 5 180622531 180622531 single base substitution C A missense_variant G209C 625G>T COAD-US 5 180622531 180622531 single base substitution C A missense_variant G391C 1171G>T COAD-US 5 180622589 180622589 single base substitution C A exon_variant COAD-US 5 180622589 180622589 single base substitution C A missense_variant Q163H 489G>T COAD-US 5 180622589 180622589 single base substitution C A missense_variant Q189H 567G>T COAD-US 5 180622589 180622589 single base substitution C A missense_variant Q371H 1113G>T COAD-US 5 180622643 180622643 single base substitution C T exon_variant COAD-US 5 180622643 180622643 single base substitution C T synonymous_variant P145P 435G>A COAD-US 5 180622643 180622643 single base substitution C T synonymous_variant P171P 513G>A COAD-US 5 180622643 180622643 single base substitution C T synonymous_variant P353P 1059G>A COCA-CN 5 180622430 180622430 single base substitution C T exon_variant COCA-CN 5 180622430 180622430 single base substitution C T synonymous_variant T216T 648G>A COCA-CN 5 180622430 180622430 single base substitution C T synonymous_variant T242T 726G>A COCA-CN 5 180622430 180622430 single base substitution C T synonymous_variant T424T 1272G>A COCA-CN 5 180628826 180628826 single base substitution A G downstream_gene_variant COCA-CN 5 180628826 180628826 single base substitution A G intron_variant COCA-CN 5 180628826 180628826 single base substitution A G upstream_gene_variant COCA-CN 5 180630434 180630434 single base substitution C T 3_prime_UTR_variant COCA-CN 5 180630434 180630434 single base substitution C T exon_variant COCA-CN 5 180630434 180630434 single base substitution C T intron_variant COCA-CN 5 180630434 180630434 single base substitution C T upstream_gene_variant COCA-CN 5 180630689 180630689 single base substitution A G intron_variant COCA-CN 5 180630689 180630689 single base substitution A G upstream_gene_variant COCA-CN 5 180636964 180636964 single base substitution G T upstream_gene_variant ESAD-UK 5 180616347 180616347 single base substitution G A downstream_gene_variant ESAD-UK 5 180617833 180617833 single base substitution C G downstream_gene_variant ESAD-UK 5 180618712 180618712 insertion of <=200bp - G downstream_gene_variant ESAD-UK 5 180618713 180618713 single base substitution A C downstream_gene_variant ESAD-UK 5 180618719 180618719 single base substitution G A downstream_gene_variant ESAD-UK 5 180618766 180618766 single base substitution G A downstream_gene_variant ESAD-UK 5 180622317 180622317 single base substitution C T exon_variant ESAD-UK 5 180622317 180622317 single base substitution C T missense_variant R254Q 761G>A ESAD-UK 5 180622317 180622317 single base substitution C T missense_variant R280Q 839G>A ESAD-UK 5 180622317 180622317 single base substitution C T missense_variant R462Q 1385G>A ESAD-UK 5 180622744 180622744 single base substitution G A exon_variant ESAD-UK 5 180622744 180622744 single base substitution G A intron_variant ESAD-UK 5 180624247 180624247 single base substitution C T exon_variant ESAD-UK 5 180624247 180624247 single base substitution C T intron_variant ESAD-UK 5 180625937 180625937 single base substitution C T downstream_gene_variant ESAD-UK 5 180625937 180625937 single base substitution C T intron_variant ESAD-UK 5 180625937 180625937 single base substitution C T upstream_gene_variant ESAD-UK 5 180627171 180627171 single base substitution C T 5_prime_UTR_variant ESAD-UK 5 180627171 180627171 single base substitution C T downstream_gene_variant ESAD-UK 5 180627171 180627171 single base substitution C T intron_variant ESAD-UK 5 180627171 180627171 single base substitution C T upstream_gene_variant ESAD-UK 5 180628349 180628349 single base substitution C A downstream_gene_variant ESAD-UK 5 180628349 180628349 single base substitution C A intron_variant ESAD-UK 5 180628349 180628349 single base substitution C A upstream_gene_variant ESAD-UK 5 180632745 180632745 insertion of <=200bp - C upstream_gene_variant ESAD-UK 5 180632879 180632879 single base substitution C G upstream_gene_variant ESAD-UK 5 180633260 180633260 single base substitution C T upstream_gene_variant ESAD-UK 5 180633901 180633901 single base substitution G A upstream_gene_variant ESAD-UK 5 180634327 180634327 single base substitution G C upstream_gene_variant ESAD-UK 5 180634537 180634537 single base substitution G T upstream_gene_variant ESAD-UK 5 180634666 180634666 single base substitution A C upstream_gene_variant ESAD-UK 5 180634971 180634971 single base substitution C G upstream_gene_variant ESAD-UK 5 180635227 180635227 single base substitution C G upstream_gene_variant ESAD-UK 5 180635244 180635244 single base substitution G T upstream_gene_variant ESAD-UK 5 180635932 180635932 single base substitution C G upstream_gene_variant ESAD-UK 5 180637237 180637237 single base substitution G A upstream_gene_variant GBM-US 5 180622296 180622296 single base substitution A G exon_variant GBM-US 5 180622296 180622296 single base substitution A G missense_variant V261A 782T>C GBM-US 5 180622296 180622296 single base substitution A G missense_variant V287A 860T>C GBM-US 5 180622296 180622296 single base substitution A G missense_variant V469A 1406T>C GBM-US 5 180625194 180625194 single base substitution T A downstream_gene_variant GBM-US 5 180625194 180625194 single base substitution T A exon_variant GBM-US 5 180625194 180625194 single base substitution T A missense_variant K130I 389A>T GBM-US 5 180625194 180625194 single base substitution T A missense_variant K156I 467A>T GBM-US 5 180625194 180625194 single base substitution T A missense_variant K338I 1013A>T LAML-KR 5 180622615 180622615 single base substitution C T exon_variant LAML-KR 5 180622615 180622615 single base substitution C T missense_variant G155S 463G>A LAML-KR 5 180622615 180622615 single base substitution C T missense_variant G181S 541G>A LAML-KR 5 180622615 180622615 single base substitution C T missense_variant G363S 1087G>A LAML-KR 5 180626030 180626030 single base substitution G A downstream_gene_variant LAML-KR 5 180626030 180626030 single base substitution G A intron_variant LAML-KR 5 180626030 180626030 single base substitution G A upstream_gene_variant LAML-KR 5 180629817 180629817 single base substitution G A downstream_gene_variant LAML-KR 5 180629817 180629817 single base substitution G A intron_variant LAML-KR 5 180629817 180629817 single base substitution G A upstream_gene_variant LAML-KR 5 180635698 180635698 single base substitution C T upstream_gene_variant LGG-US 5 180622600 180622600 single base substitution C T exon_variant LGG-US 5 180622600 180622600 single base substitution C T missense_variant E160K 478G>A LGG-US 5 180622600 180622600 single base substitution C T missense_variant E186K 556G>A LGG-US 5 180622600 180622600 single base substitution C T missense_variant E368K 1102G>A LICA-FR 5 180618771 180618771 single base substitution C G downstream_gene_variant LICA-FR 5 180622217 180622217 single base substitution G A exon_variant LICA-FR 5 180622217 180622217 single base substitution G A synonymous_variant F287F 861C>T LICA-FR 5 180622217 180622217 single base substitution G A synonymous_variant F313F 939C>T LICA-FR 5 180622217 180622217 single base substitution G A synonymous_variant F495F 1485C>T LICA-FR 5 180622655 180622655 single base substitution G T exon_variant LICA-FR 5 180622655 180622655 single base substitution G T missense_variant D141E 423C>A LICA-FR 5 180622655 180622655 single base substitution G T missense_variant D167E 501C>A LICA-FR 5 180622655 180622655 single base substitution G T missense_variant D349E 1047C>A LICA-FR 5 180625780 180625780 single base substitution G A downstream_gene_variant LICA-FR 5 180625780 180625780 single base substitution G A missense_variant P118S 352C>T LICA-FR 5 180625780 180625780 single base substitution G A missense_variant P300S 898C>T LICA-FR 5 180625780 180625780 single base substitution G A missense_variant P92S 274C>T LICA-FR 5 180625780 180625780 single base substitution G A upstream_gene_variant LICA-FR 5 180628509 180628509 single base substitution G A downstream_gene_variant LICA-FR 5 180628509 180628509 single base substitution G A intron_variant LICA-FR 5 180628509 180628509 single base substitution G A upstream_gene_variant LINC-JP 5 180621144 180621144 single base substitution C G 3_prime_UTR_variant LINC-JP 5 180621144 180621144 single base substitution C G downstream_gene_variant LINC-JP 5 180621144 180621144 single base substitution C G exon_variant LINC-JP 5 180627126 180627126 single base substitution A T downstream_gene_variant LINC-JP 5 180627126 180627126 single base substitution A T intron_variant LINC-JP 5 180627126 180627126 single base substitution A T missense_variant C10S 28T>A LINC-JP 5 180627126 180627126 single base substitution A T upstream_gene_variant LIRI-JP 5 180617795 180617795 single base substitution C G downstream_gene_variant LIRI-JP 5 180620994 180620994 single base substitution G T 3_prime_UTR_variant LIRI-JP 5 180620994 180620994 single base substitution G T downstream_gene_variant LIRI-JP 5 180620994 180620994 single base substitution G T exon_variant LIRI-JP 5 180625314 180625314 single base substitution C T downstream_gene_variant LIRI-JP 5 180625314 180625314 single base substitution C T intron_variant LIRI-JP 5 180626710 180626710 single base substitution A T downstream_gene_variant LIRI-JP 5 180626710 180626710 single base substitution A T intron_variant LIRI-JP 5 180626710 180626710 single base substitution A T upstream_gene_variant LIRI-JP 5 180633784 180633784 single base substitution A G upstream_gene_variant LIRI-JP 5 180634078 180634078 single base substitution C T upstream_gene_variant LIRI-JP 5 180634600 180634600 single base substitution A G upstream_gene_variant LIRI-JP 5 180635000 180635000 single base substitution T C upstream_gene_variant LUSC-KR 5 180617333 180617333 single base substitution C A downstream_gene_variant LUSC-KR 5 180618693 180618693 single base substitution C T downstream_gene_variant LUSC-KR 5 180632468 180632468 single base substitution G C upstream_gene_variant LUSC-KR 5 180635095 180635095 single base substitution A G upstream_gene_variant LUSC-KR 5 180636198 180636198 single base substitution G A upstream_gene_variant LUSC-KR 5 180636523 180636523 single base substitution C A upstream_gene_variant LUSC-KR 5 180636524 180636524 single base substitution C T upstream_gene_variant LUSC-KR 5 180636964 180636964 single base substitution G T upstream_gene_variant LUSC-US 5 180622557 180622557 single base substitution G T exon_variant LUSC-US 5 180622557 180622557 single base substitution G T missense_variant T174N 521C>A LUSC-US 5 180622557 180622557 single base substitution G T missense_variant T200N 599C>A LUSC-US 5 180622557 180622557 single base substitution G T missense_variant T382N 1145C>A LUSC-US 5 180625213 180625213 single base substitution G T downstream_gene_variant LUSC-US 5 180625213 180625213 single base substitution G T exon_variant LUSC-US 5 180625213 180625213 single base substitution G T missense_variant L124I 370C>A LUSC-US 5 180625213 180625213 single base substitution G T missense_variant L150I 448C>A LUSC-US 5 180625213 180625213 single base substitution G T missense_variant L332I 994C>A MALY-DE 5 180631906 180631906 single base substitution T C missense_variant T69A 205A>G MALY-DE 5 180631906 180631906 single base substitution T C upstream_gene_variant MALY-DE 5 180632757 180632758 deletion of <=200bp CA - upstream_gene_variant MELA-AU 5 180615952 180615952 single base substitution T C downstream_gene_variant MELA-AU 5 180616498 180616498 single base substitution G A downstream_gene_variant MELA-AU 5 180616620 180616620 single base substitution G A downstream_gene_variant MELA-AU 5 180617813 180617813 single base substitution C T downstream_gene_variant MELA-AU 5 180618342 180618342 single base substitution C T downstream_gene_variant MELA-AU 5 180618550 180618550 single base substitution G A downstream_gene_variant MELA-AU 5 180618663 180618663 single base substitution G A downstream_gene_variant MELA-AU 5 180618675 180618675 single base substitution A G downstream_gene_variant MELA-AU 5 180618743 180618743 single base substitution C T downstream_gene_variant MELA-AU 5 180619025 180619025 single base substitution C T downstream_gene_variant MELA-AU 5 180620361 180620361 single base substitution C T downstream_gene_variant MELA-AU 5 180621011 180621011 single base substitution C T 3_prime_UTR_variant MELA-AU 5 180621011 180621011 single base substitution C T downstream_gene_variant MELA-AU 5 180621011 180621011 single base substitution C T exon_variant MELA-AU 5 180622184 180622184 single base substitution G T exon_variant MELA-AU 5 180622184 180622184 single base substitution G T stop_gained Y298* 894C>A MELA-AU 5 180622184 180622184 single base substitution G T stop_gained Y324* 972C>A MELA-AU 5 180622184 180622184 single base substitution G T stop_gained Y506* 1518C>A MELA-AU 5 180622414 180622414 single base substitution C T exon_variant MELA-AU 5 180622414 180622414 single base substitution C T missense_variant E222K 664G>A MELA-AU 5 180622414 180622414 single base substitution C T missense_variant E248K 742G>A MELA-AU 5 180622414 180622414 single base substitution C T missense_variant E430K 1288G>A MELA-AU 5 180622420 180622420 single base substitution G A exon_variant MELA-AU 5 180622420 180622420 single base substitution G A missense_variant P220S 658C>T MELA-AU 5 180622420 180622420 single base substitution G A missense_variant P246S 736C>T MELA-AU 5 180622420 180622420 single base substitution G A missense_variant P428S 1282C>T MELA-AU 5 180622554 180622554 single base substitution T C exon_variant MELA-AU 5 180622554 180622554 single base substitution T C missense_variant N175S 524A>G MELA-AU 5 180622554 180622554 single base substitution T C missense_variant N201S 602A>G MELA-AU 5 180622554 180622554 single base substitution T C missense_variant N383S 1148A>G MELA-AU 5 180622694 180622694 single base substitution G A exon_variant MELA-AU 5 180622694 180622694 single base substitution G A intron_variant MELA-AU 5 180623062 180623064 deletion of <=200bp ATG - exon_variant MELA-AU 5 180623062 180623064 deletion of <=200bp ATG - intron_variant MELA-AU 5 180623161 180623161 single base substitution C T exon_variant MELA-AU 5 180623161 180623161 single base substitution C T intron_variant MELA-AU 5 180623205 180623205 single base substitution C T exon_variant MELA-AU 5 180623205 180623205 single base substitution C T intron_variant MELA-AU 5 180623852 180623852 single base substitution G A exon_variant MELA-AU 5 180623852 180623852 single base substitution G A intron_variant MELA-AU 5 180624489 180624489 single base substitution G A exon_variant MELA-AU 5 180624489 180624489 single base substitution G A intron_variant MELA-AU 5 180624875 180624875 single base substitution C T exon_variant MELA-AU 5 180624875 180624875 single base substitution C T intron_variant MELA-AU 5 180625177 180625177 single base substitution C T downstream_gene_variant MELA-AU 5 180625177 180625177 single base substitution C T exon_variant MELA-AU 5 180625177 180625177 single base substitution C T splice_region_variant MELA-AU 5 180625549 180625549 single base substitution C T downstream_gene_variant MELA-AU 5 180625549 180625549 single base substitution C T intron_variant MELA-AU 5 180626135 180626135 single base substitution G A downstream_gene_variant MELA-AU 5 180626135 180626135 single base substitution G A intron_variant MELA-AU 5 180626135 180626135 single base substitution G A upstream_gene_variant MELA-AU 5 180626172 180626172 single base substitution C T downstream_gene_variant MELA-AU 5 180626172 180626172 single base substitution C T intron_variant MELA-AU 5 180626172 180626172 single base substitution C T upstream_gene_variant MELA-AU 5 180626348 180626348 single base substitution C T downstream_gene_variant MELA-AU 5 180626348 180626348 single base substitution C T intron_variant MELA-AU 5 180626348 180626348 single base substitution C T upstream_gene_variant MELA-AU 5 180627862 180627862 single base substitution T A 5_prime_UTR_variant MELA-AU 5 180627862 180627862 single base substitution T A downstream_gene_variant MELA-AU 5 180627862 180627862 single base substitution T A intron_variant MELA-AU 5 180627862 180627862 single base substitution T A upstream_gene_variant MELA-AU 5 180628779 180628779 single base substitution G A downstream_gene_variant MELA-AU 5 180628779 180628779 single base substitution G A intron_variant MELA-AU 5 180628779 180628779 single base substitution G A upstream_gene_variant MELA-AU 5 180629063 180629063 single base substitution G A downstream_gene_variant MELA-AU 5 180629063 180629063 single base substitution G A intron_variant MELA-AU 5 180629063 180629063 single base substitution G A upstream_gene_variant MELA-AU 5 180629609 180629609 single base substitution C T downstream_gene_variant MELA-AU 5 180629609 180629609 single base substitution C T intron_variant MELA-AU 5 180629609 180629609 single base substitution C T upstream_gene_variant MELA-AU 5 180629668 180629668 single base substitution A G downstream_gene_variant MELA-AU 5 180629668 180629668 single base substitution A G intron_variant MELA-AU 5 180629668 180629668 single base substitution A G upstream_gene_variant MELA-AU 5 180629671 180629671 single base substitution A T downstream_gene_variant MELA-AU 5 180629671 180629671 single base substitution A T intron_variant MELA-AU 5 180629671 180629671 single base substitution A T upstream_gene_variant MELA-AU 5 180630235 180630235 single base substitution G C 3_prime_UTR_variant MELA-AU 5 180630235 180630235 single base substitution G C exon_variant MELA-AU 5 180630235 180630235 single base substitution G C intron_variant MELA-AU 5 180630235 180630235 single base substitution G C upstream_gene_variant MELA-AU 5 180631476 180631476 single base substitution G A intron_variant MELA-AU 5 180631476 180631476 single base substitution G A upstream_gene_variant MELA-AU 5 180632178 180632178 single base substitution T G 5_prime_UTR_variant MELA-AU 5 180632178 180632178 single base substitution T G upstream_gene_variant MELA-AU 5 180632725 180632725 single base substitution C T upstream_gene_variant MELA-AU 5 180633042 180633042 single base substitution C T upstream_gene_variant MELA-AU 5 180633113 180633113 single base substitution C T upstream_gene_variant MELA-AU 5 180633669 180633669 single base substitution G A upstream_gene_variant MELA-AU 5 180633858 180633858 single base substitution G C upstream_gene_variant MELA-AU 5 180633859 180633859 single base substitution A T upstream_gene_variant MELA-AU 5 180634415 180634415 single base substitution A G upstream_gene_variant MELA-AU 5 180634726 180634726 single base substitution G A upstream_gene_variant MELA-AU 5 180634739 180634739 single base substitution G C upstream_gene_variant MELA-AU 5 180634789 180634789 single base substitution T G upstream_gene_variant MELA-AU 5 180635129 180635129 single base substitution G A upstream_gene_variant MELA-AU 5 180635718 180635718 single base substitution G A upstream_gene_variant MELA-AU 5 180636297 180636297 single base substitution G A upstream_gene_variant MELA-AU 5 180636525 180636525 single base substitution C T upstream_gene_variant MELA-AU 5 180636636 180636636 single base substitution C T upstream_gene_variant ORCA-IN 5 180618680 180618680 single base substitution C G downstream_gene_variant ORCA-IN 5 180626972 180626972 single base substitution C T downstream_gene_variant ORCA-IN 5 180626972 180626972 single base substitution C T missense_variant R243Q 728G>A ORCA-IN 5 180626972 180626972 single base substitution C T missense_variant R35Q 104G>A ORCA-IN 5 180626972 180626972 single base substitution C T missense_variant R61Q 182G>A ORCA-IN 5 180626972 180626972 single base substitution C T upstream_gene_variant ORCA-IN 5 180627036 180627036 single base substitution C A downstream_gene_variant ORCA-IN 5 180627036 180627036 single base substitution C A missense_variant A14S 40G>T ORCA-IN 5 180627036 180627036 single base substitution C A missense_variant A222S 664G>T ORCA-IN 5 180627036 180627036 single base substitution C A missense_variant A40S 118G>T ORCA-IN 5 180627036 180627036 single base substitution C A upstream_gene_variant ORCA-IN 5 180633859 180633859 single base substitution A G upstream_gene_variant OV-AU 5 180624472 180624472 single base substitution G C exon_variant OV-AU 5 180624472 180624472 single base substitution G C intron_variant OV-AU 5 180629413 180629413 single base substitution A G downstream_gene_variant OV-AU 5 180629413 180629413 single base substitution A G intron_variant OV-AU 5 180629413 180629413 single base substitution A G upstream_gene_variant OV-AU 5 180633919 180633919 single base substitution G C upstream_gene_variant OV-AU 5 180633944 180633944 single base substitution A G upstream_gene_variant OV-AU 5 180634082 180634082 single base substitution G A upstream_gene_variant PACA-AU 5 180618672 180618672 single base substitution G A downstream_gene_variant PACA-AU 5 180618701 180618701 single base substitution T A downstream_gene_variant PACA-AU 5 180619611 180619611 single base substitution C T downstream_gene_variant PACA-AU 5 180623419 180623419 single base substitution G A exon_variant PACA-AU 5 180623419 180623419 single base substitution G A intron_variant PACA-AU 5 180624987 180624987 single base substitution G C exon_variant PACA-AU 5 180624987 180624987 single base substitution G C intron_variant PACA-AU 5 180628069 180628069 single base substitution C A downstream_gene_variant PACA-AU 5 180628069 180628069 single base substitution C A intron_variant PACA-AU 5 180628069 180628069 single base substitution C A upstream_gene_variant PACA-AU 5 180629036 180629036 single base substitution T C downstream_gene_variant PACA-AU 5 180629036 180629036 single base substitution T C intron_variant PACA-AU 5 180629036 180629036 single base substitution T C upstream_gene_variant PACA-AU 5 180630758 180630758 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 5 180630758 180630758 single base substitution G A exon_variant PACA-AU 5 180630758 180630758 single base substitution G A intron_variant PACA-AU 5 180630758 180630758 single base substitution G A upstream_gene_variant PACA-AU 5 180631182 180631182 single base substitution A C 5_prime_UTR_variant PACA-AU 5 180631182 180631182 single base substitution A C intron_variant PACA-AU 5 180631182 180631182 single base substitution A C upstream_gene_variant PACA-AU 5 180635676 180635676 single base substitution G A upstream_gene_variant PACA-AU 5 180635969 180635969 single base substitution A T upstream_gene_variant PACA-CA 5 180618211 180618211 single base substitution G T downstream_gene_variant PACA-CA 5 180620751 180620751 single base substitution A G downstream_gene_variant PACA-CA 5 180620930 180620930 single base substitution G C 3_prime_UTR_variant PACA-CA 5 180620930 180620930 single base substitution G C downstream_gene_variant PACA-CA 5 180620930 180620930 single base substitution G C exon_variant PACA-CA 5 180622452 180622452 single base substitution C A exon_variant PACA-CA 5 180622452 180622452 single base substitution C A missense_variant S209I 626G>T PACA-CA 5 180622452 180622452 single base substitution C A missense_variant S235I 704G>T PACA-CA 5 180622452 180622452 single base substitution C A missense_variant S417I 1250G>T PACA-CA 5 180624538 180624538 single base substitution G A exon_variant PACA-CA 5 180624538 180624538 single base substitution G A intron_variant PACA-CA 5 180627172 180627172 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 5 180627172 180627172 single base substitution G A downstream_gene_variant PACA-CA 5 180627172 180627172 single base substitution G A intron_variant PACA-CA 5 180627172 180627172 single base substitution G A upstream_gene_variant PACA-CA 5 180633904 180633904 single base substitution T C upstream_gene_variant PACA-CA 5 180634509 180634509 single base substitution C G upstream_gene_variant PACA-CA 5 180634764 180634764 single base substitution G T upstream_gene_variant PACA-CA 5 180637215 180637215 single base substitution G A upstream_gene_variant PAEN-AU 5 180615935 180615935 single base substitution G A downstream_gene_variant PAEN-AU 5 180618711 180618711 single base substitution C T downstream_gene_variant PAEN-AU 5 180620904 180620904 single base substitution A G downstream_gene_variant PBCA-DE 5 180622322 180622322 single base substitution G A exon_variant PBCA-DE 5 180622322 180622322 single base substitution G A synonymous_variant R252R 756C>T PBCA-DE 5 180622322 180622322 single base substitution G A synonymous_variant R278R 834C>T PBCA-DE 5 180622322 180622322 single base substitution G A synonymous_variant R460R 1380C>T PBCA-DE 5 180633870 180633870 single base substitution G A upstream_gene_variant PRAD-UK 5 180618776 180618776 single base substitution T A downstream_gene_variant PRAD-UK 5 180625604 180625604 single base substitution G A downstream_gene_variant PRAD-UK 5 180625604 180625604 single base substitution G A intron_variant PRAD-UK 5 180637220 180637220 single base substitution G A upstream_gene_variant READ-US 5 180625206 180625206 single base substitution C G downstream_gene_variant READ-US 5 180625206 180625206 single base substitution C G exon_variant READ-US 5 180625206 180625206 single base substitution C G missense_variant G126A 377G>C READ-US 5 180625206 180625206 single base substitution C G missense_variant G152A 455G>C READ-US 5 180625206 180625206 single base substitution C G missense_variant G334A 1001G>C RECA-EU 5 180632591 180632591 single base substitution A T upstream_gene_variant SKCA-BR 5 180617656 180617656 single base substitution C T downstream_gene_variant SKCA-BR 5 180618771 180618771 single base substitution C T downstream_gene_variant SKCA-BR 5 180618882 180618882 single base substitution G A downstream_gene_variant SKCA-BR 5 180619543 180619543 single base substitution C T downstream_gene_variant SKCA-BR 5 180620899 180620899 single base substitution G A downstream_gene_variant SKCA-BR 5 180622552 180622552 single base substitution T A exon_variant SKCA-BR 5 180622552 180622552 single base substitution T A missense_variant T176S 526A>T SKCA-BR 5 180622552 180622552 single base substitution T A missense_variant T202S 604A>T SKCA-BR 5 180622552 180622552 single base substitution T A missense_variant T384S 1150A>T SKCA-BR 5 180625452 180625452 single base substitution C T downstream_gene_variant SKCA-BR 5 180625452 180625452 single base substitution C T intron_variant SKCA-BR 5 180627086 180627086 single base substitution C T downstream_gene_variant SKCA-BR 5 180627086 180627086 single base substitution C T missense_variant G23E 68G>A SKCA-BR 5 180627086 180627086 single base substitution C T splice_region_variant SKCA-BR 5 180627086 180627086 single base substitution C T upstream_gene_variant SKCA-BR 5 180629178 180629179 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 5 180629178 180629179 deletion of <=200bp CT - intron_variant SKCA-BR 5 180629178 180629179 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 5 180629178 180629180 deletion of <=200bp CTT - downstream_gene_variant SKCA-BR 5 180629178 180629180 deletion of <=200bp CTT - intron_variant SKCA-BR 5 180629178 180629180 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 5 180631471 180631471 single base substitution G A intron_variant SKCA-BR 5 180631471 180631471 single base substitution G A upstream_gene_variant SKCA-BR 5 180632629 180632629 single base substitution G C upstream_gene_variant SKCA-BR 5 180633888 180633888 single base substitution G A upstream_gene_variant SKCA-BR 5 180635736 180635736 single base substitution T G upstream_gene_variant SKCM-US 5 180622589 180622589 single base substitution C T exon_variant SKCM-US 5 180622589 180622589 single base substitution C T synonymous_variant Q163Q 489G>A SKCM-US 5 180622589 180622589 single base substitution C T synonymous_variant Q189Q 567G>A SKCM-US 5 180622589 180622589 single base substitution C T synonymous_variant Q371Q 1113G>A SKCM-US 5 180622600 180622600 single base substitution C A exon_variant SKCM-US 5 180622600 180622600 single base substitution C A stop_gained E160* 478G>T SKCM-US 5 180622600 180622600 single base substitution C A stop_gained E186* 556G>T SKCM-US 5 180622600 180622600 single base substitution C A stop_gained E368* 1102G>T SKCM-US 5 180625700 180625700 single base substitution C T downstream_gene_variant SKCM-US 5 180625700 180625700 single base substitution C T exon_variant SKCM-US 5 180625700 180625700 single base substitution C T synonymous_variant K118K 354G>A SKCM-US 5 180625700 180625700 single base substitution C T synonymous_variant K144K 432G>A SKCM-US 5 180625700 180625700 single base substitution C T synonymous_variant K326K 978G>A SKCM-US 5 180625718 180625718 single base substitution G T downstream_gene_variant SKCM-US 5 180625718 180625718 single base substitution G T exon_variant SKCM-US 5 180625718 180625718 single base substitution G T synonymous_variant V112V 336C>A SKCM-US 5 180625718 180625718 single base substitution G T synonymous_variant V138V 414C>A SKCM-US 5 180625718 180625718 single base substitution G T synonymous_variant V320V 960C>A SKCM-US 5 180625727 180625727 single base substitution C T downstream_gene_variant SKCM-US 5 180625727 180625727 single base substitution C T exon_variant SKCM-US 5 180625727 180625727 single base substitution C T synonymous_variant K109K 327G>A SKCM-US 5 180625727 180625727 single base substitution C T synonymous_variant K135K 405G>A SKCM-US 5 180625727 180625727 single base substitution C T synonymous_variant K317K 951G>A STAD-US 5 180622224 180622224 single base substitution C T exon_variant STAD-US 5 180622224 180622224 single base substitution C T missense_variant R285H 854G>A STAD-US 5 180622224 180622224 single base substitution C T missense_variant R311H 932G>A STAD-US 5 180622224 180622224 single base substitution C T missense_variant R493H 1478G>A STAD-US 5 180622403 180622403 single base substitution C T exon_variant STAD-US 5 180622403 180622403 single base substitution C T stop_gained W225* 675G>A STAD-US 5 180622403 180622403 single base substitution C T stop_gained W251* 753G>A STAD-US 5 180622403 180622403 single base substitution C T stop_gained W433* 1299G>A STAD-US 5 180622450 180622450 single base substitution C T exon_variant STAD-US 5 180622450 180622450 single base substitution C T missense_variant V210M 628G>A STAD-US 5 180622450 180622450 single base substitution C T missense_variant V236M 706G>A STAD-US 5 180622450 180622450 single base substitution C T missense_variant V418M 1252G>A STAD-US 5 180622451 180622451 single base substitution G A exon_variant STAD-US 5 180622451 180622451 single base substitution G A synonymous_variant S209S 627C>T STAD-US 5 180622451 180622451 single base substitution G A synonymous_variant S235S 705C>T STAD-US 5 180622451 180622451 single base substitution G A synonymous_variant S417S 1251C>T STAD-US 5 180622459 180622459 single base substitution G A exon_variant STAD-US 5 180622459 180622459 single base substitution G A missense_variant R207C 619C>T STAD-US 5 180622459 180622459 single base substitution G A missense_variant R233C 697C>T STAD-US 5 180622459 180622459 single base substitution G A missense_variant R415C 1243C>T STAD-US 5 180622613 180622613 single base substitution G A exon_variant STAD-US 5 180622613 180622613 single base substitution G A synonymous_variant G155G 465C>T STAD-US 5 180622613 180622613 single base substitution G A synonymous_variant G181G 543C>T STAD-US 5 180622613 180622613 single base substitution G A synonymous_variant G363G 1089C>T STAD-US 5 180625788 180625788 deletion of <=200bp C - downstream_gene_variant STAD-US 5 180625788 180625788 deletion of <=200bp C - frameshift_variant G115 STAD-US 5 180625788 180625788 deletion of <=200bp C - frameshift_variant G297 STAD-US 5 180625788 180625788 deletion of <=200bp C - frameshift_variant G89 STAD-US 5 180625788 180625788 deletion of <=200bp C - upstream_gene_variant STAD-US 5 180626983 180626983 single base substitution C A downstream_gene_variant STAD-US 5 180626983 180626983 single base substitution C A missense_variant E239D 717G>T STAD-US 5 180626983 180626983 single base substitution C A missense_variant E31D 93G>T STAD-US 5 180626983 180626983 single base substitution C A missense_variant E57D 171G>T STAD-US 5 180626983 180626983 single base substitution C A upstream_gene_variant STAD-US 5 180630563 180630565 deletion of <=200bp CTT - 5_prime_UTR_variant STAD-US 5 180630563 180630565 deletion of <=200bp CTT - exon_variant STAD-US 5 180630563 180630565 deletion of <=200bp CTT - inframe_deletion K200 STAD-US 5 180630563 180630565 deletion of <=200bp CTT - upstream_gene_variant STAD-US 5 180630566 180630566 single base substitution C A 5_prime_UTR_variant STAD-US 5 180630566 180630566 single base substitution C A exon_variant STAD-US 5 180630566 180630566 single base substitution C A missense_variant K199N 597G>T STAD-US 5 180630566 180630566 single base substitution C A upstream_gene_variant THCA-SA 5 180620978 180620978 single base substitution C T 3_prime_UTR_variant THCA-SA 5 180620978 180620978 single base substitution C T downstream_gene_variant THCA-SA 5 180620978 180620978 single base substitution C T exon_variant THCA-SA 5 180621118 180621118 single base substitution C G 3_prime_UTR_variant THCA-SA 5 180621118 180621118 single base substitution C G downstream_gene_variant THCA-SA 5 180621118 180621118 single base substitution C G exon_variant THCA-SA 5 180621595 180621595 single base substitution A C 3_prime_UTR_variant THCA-SA 5 180621595 180621595 single base substitution A C downstream_gene_variant THCA-SA 5 180621595 180621595 single base substitution A C exon_variant THCA-SA 5 180621636 180621636 single base substitution G T 3_prime_UTR_variant THCA-SA 5 180621636 180621636 single base substitution G T exon_variant THCA-SA 5 180627224 180627224 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 5 180627224 180627224 single base substitution G A downstream_gene_variant THCA-SA 5 180627224 180627224 single base substitution G A intron_variant THCA-SA 5 180627224 180627224 single base substitution G A upstream_gene_variant THCA-US 5 180622520 180622520 single base substitution C T exon_variant THCA-US 5 180622520 180622520 single base substitution C T synonymous_variant S186S 558G>A THCA-US 5 180622520 180622520 single base substitution C T synonymous_variant S212S 636G>A THCA-US 5 180622520 180622520 single base substitution C T synonymous_variant S394S 1182G>A UCEC-US 5 180622561 180622561 single base substitution C T exon_variant UCEC-US 5 180622561 180622561 single base substitution C T missense_variant D173N 517G>A UCEC-US 5 180622561 180622561 single base substitution C T missense_variant D199N 595G>A UCEC-US 5 180622561 180622561 single base substitution C T missense_variant D381N 1141G>A UCEC-US 5 180622642 180622642 single base substitution G A exon_variant UCEC-US 5 180622642 180622642 single base substitution G A missense_variant R146C 436C>T UCEC-US 5 180622642 180622642 single base substitution G A missense_variant R172C 514C>T UCEC-US 5 180622642 180622642 single base substitution G A missense_variant R354C 1060C>T UCEC-US 5 180625197 180625197 single base substitution T C downstream_gene_variant UCEC-US 5 180625197 180625197 single base substitution T C exon_variant UCEC-US 5 180625197 180625197 single base substitution T C missense_variant E129G 386A>G UCEC-US 5 180625197 180625197 single base substitution T C missense_variant E155G 464A>G UCEC-US 5 180625197 180625197 single base substitution T C missense_variant E337G 1010A>G UCEC-US 5 180625708 180625708 single base substitution T C downstream_gene_variant UCEC-US 5 180625708 180625708 single base substitution T C exon_variant UCEC-US 5 180625708 180625708 single base substitution T C missense_variant M116V 346A>G UCEC-US 5 180625708 180625708 single base substitution T C missense_variant M142V 424A>G UCEC-US 5 180625708 180625708 single base substitution T C missense_variant M324V 970A>G UCEC-US 5 180625734 180625734 single base substitution G T downstream_gene_variant UCEC-US 5 180625734 180625734 single base substitution G T exon_variant UCEC-US 5 180625734 180625734 single base substitution G T missense_variant S107Y 320C>A UCEC-US 5 180625734 180625734 single base substitution G T missense_variant S133Y 398C>A UCEC-US 5 180625734 180625734 single base substitution G T missense_variant S315Y 944C>A UCEC-US 5 180626991 180626991 single base substitution G T downstream_gene_variant UCEC-US 5 180626991 180626991 single base substitution G T missense_variant R237S 709C>A UCEC-US 5 180626991 180626991 single base substitution G T missense_variant R29S 85C>A UCEC-US 5 180626991 180626991 single base substitution G T missense_variant R55S 163C>A UCEC-US 5 180626991 180626991 single base substitution G T upstream_gene_variant UCEC-US 5 180630635 180630635 single base substitution G T 5_prime_UTR_variant UCEC-US 5 180630635 180630635 single base substitution G T exon_variant UCEC-US 5 180630635 180630635 single base substitution G T synonymous_variant L176L 528C>A UCEC-US 5 180630635 180630635 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T2269 COSM4736219 c.1011G>A p.E337E Substitution - coding silent 5:181198196-181198196 - CSCC-58-T COSM4484676 c.283C>G p.Q95E Substitution - Missense 5:181204828-181204828 - TCGA-F4-6856-01 COSM1230409 c.1255C>T p.R419C Substitution - Missense 5:181195447-181195447 - TCGA-FS-A1ZS-06 COSM3615049 c.951G>A p.K317K Substitution - coding silent 5:181198727-181198727 - TCGA-EA-A3QE-01 COSM4843482 c.855C>A p.F285L Substitution - Missense 5:181199112-181199112 - PTC-54C COSM4159827 c.1127A>C p.H376P Substitution - Missense 5:181195575-181195575 - TCGA-46-3769-01 COSM737421 c.1145C>A p.T382N Substitution - Missense 5:181195557-181195557 - pfg143T COSM4764004 c.1532C>A p.P511H Substitution - Missense 5:181195170-181195170 - WSU-HN8 COSM4159827 c.1127A>C p.H376P Substitution - Missense 5:181195575-181195575 - TCGA-AZ-6598-01 COSM1436766 c.1113G>T p.Q371H Substitution - Missense 5:181195589-181195589 - TCGA-Q1-A73O-01 COSM4835465 c.1015G>C p.E339Q Substitution - Missense 5:181198192-181198192 - TCGA-BJ-A290-01 COSM3373839 c.1182G>A p.S394S Substitution - coding silent 5:181195520-181195520 - TCGA-CG-4306-01 COSM3854450 c.1252G>A p.V418M Substitution - Missense 5:181195450-181195450 - CHC892T COSM4795917 c.898C>T p.P300S Substitution - Missense 5:181198780-181198780 - TCGA-66-2756-01 COSM737420 c.994C>A p.L332I Substitution - Missense 5:181198213-181198213 - LUAD-5V8LT COSM402754 c.463G>T p.A155S Substitution - Missense 5:181204648-181204648 - LUAD-CHTN-Z4716A COSM362431 c.1365C>T p.C455C Substitution - coding silent 5:181195337-181195337 - TCGA-AA-3715-01 COSM270398 c.950A>C p.K317T Substitution - Missense 5:181198728-181198728 - TCGA-BR-7703-01 COSM3854460 c.597G>T p.K199N Substitution - Missense 5:181203566-181203566 - TCGA-G4-6302-01 COSM3697195 c.1171G>T p.G391C Substitution - Missense 5:181195531-181195531 - PTC-10C COSM4159825 c.1272G>T p.T424T Substitution - coding silent 5:181195430-181195430 - LS411 COSM3013008 c.966A>G p.K322K Substitution - coding silent 5:181198712-181198712 - BD165T COSM5506193 c.1348C>T p.R450W Substitution - Missense 5:181195354-181195354 - GHE1438 COSM3012998 c.1105C>T p.R369W Substitution - Missense 5:181195597-181195597 - TCGA-13-1495-01 COSM80679 c.690G>A p.Q230Q Substitution - coding silent 5:181200010-181200010 - TCGA-AA-A010-01 COSM285960 c.850G>A p.E284K Substitution - Missense 5:181199117-181199117 - T578 COSM4736221 c.718G>A p.E240K Substitution - Missense 5:181199982-181199982 - LUAD-CHTN-Z4716A COSM362433 c.1140C>A p.F380L Substitution - Missense 5:181195562-181195562 - TCGA-B5-A11N-01 COSM1066918 c.970A>G p.M324V Substitution - Missense 5:181198708-181198708 - SNUH_G76_S1 COSM150034 c.773T>C p.V258A Substitution - Missense 5:181199927-181199927 - 12P3 COSM3733597 c.1135C>T p.R379C Substitution - Missense 5:181195567-181195567 - PD4203a COSM165148 c.823C>G p.Q275E Substitution - Missense 5:181199877-181199877 - STC232 COSM5061019 c.1074T>C p.S358S Substitution - coding silent 5:181195628-181195628 - D-13 COSM4766875 c.43G>T p.E15* Substitution - Nonsense 5:181205068-181205068 - TCGA-HU-A4GU-01 COSM3854456 c.1089C>T p.G363G Substitution - coding silent 5:181195613-181195613 - TCGA-CM-6162-01 COSM1436764 c.1461C>T p.R487R Substitution - coding silent 5:181195241-181195241 - WSU-HN12 COSM4159827 c.1127A>C p.H376P Substitution - Missense 5:181195575-181195575 - SC_9058 COSM5565756 c.729G>T p.R243R Substitution - coding silent 5:181199971-181199971 - TCGA-BR-A4QI-01 COSM3854454 c.1243C>T p.R415C Substitution - Missense 5:181195459-181195459 - TCGA-AD-5900-01 COSM1436765 c.1378C>T p.R460C Substitution - Missense 5:181195324-181195324 - TCGA-12-0615-01 COSM3410198 c.1406T>C p.V469A Substitution - Missense 5:181195296-181195296 - TCGA-BR-7851-01 COSM3854452 c.1251C>T p.S417S Substitution - coding silent 5:181195451-181195451 - HT115 COSM24052 c.1259G>A p.R420Q Substitution - Missense 5:181195443-181195443 - CHC892T COSM4959182 c.1485C>T p.F495F Substitution - coding silent 5:181195217-181195217 - 2492720 COSM5720524 c.1431G>A p.V477V Substitution - coding silent 5:181195271-181195271 - PDA_023 COSM150034 c.773T>C p.V258A Substitution - Missense 5:181199927-181199927 - TCGA-AP-A0LD-01 COSM1066920 c.709C>A p.R237S Substitution - Missense 5:181199991-181199991 - YUBAN COSM1240521 c.1459C>T p.R487C Substitution - Missense 5:181195243-181195243 - STC263 COSM1066916 c.1060C>T p.R354C Substitution - Missense 5:181195642-181195642 - sysucc-1397T COSM5474822 c.1272G>A p.T424T Substitution - coding silent 5:181195430-181195430 - TCGA-FU-A3HZ-01 COSM3975474 c.1102G>A p.E368K Substitution - Missense 5:181195600-181195600 - 2492721 COSM5720524 c.1431G>A p.V477V Substitution - coding silent 5:181195271-181195271 - 262LT COSM150034 c.773T>C p.V258A Substitution - Missense 5:181199927-181199927 - 3N02-VS-3T02 COSM4978536 c.1345G>A p.E449K Substitution - Missense 5:181195357-181195357 - TCGA-EE-A3J8-06 COSM3615045 c.1102G>T p.E368* Substitution - Nonsense 5:181195600-181195600 - S01873 COSM3012977 c.1462G>A p.V488I Substitution - Missense 5:181195240-181195240 - OCC08PT COSM88696 c.1186C>T p.R396W Substitution - Missense 5:181195516-181195516 - TCGA-E9-A22G-01 COSM1486694 c.872G>A p.R291K Substitution - Missense 5:181199095-181199095 - LUAD-CHTN-Z4716A COSM362432 c.1209G>A p.V403V Substitution - coding silent 5:181195493-181195493 - TCGA-EE-A182-06 COSM3615043 c.1113G>A p.Q371Q Substitution - coding silent 5:181195589-181195589 - TCGA-AP-A056-01 COSM1066919 c.944C>A p.S315Y Substitution - Missense 5:181198734-181198734 - TCGA-AU-6004-01 COSM1436767 c.1059G>A p.P353P Substitution - coding silent 5:181195643-181195643 - TCGA-FW-A3R5-06 COSM3919864 c.960C>A p.V320V Substitution - coding silent 5:181198718-181198718 - ESO-859 COSM1240521 c.1459C>T p.R487C Substitution - Missense 5:181195243-181195243 - CHC892T COSM4795917 c.898C>T p.P300S Substitution - Missense 5:181198780-181198780 - TCGA-FG-6689-01 COSM3975474 c.1102G>A p.E368K Substitution - Missense 5:181195600-181195600 - 31T COSM3715054 c.728G>A p.R243Q Substitution - Missense 5:181199972-181199972 - CHC892T COSM4959182 c.1485C>T p.F495F Substitution - coding silent 5:181195217-181195217 - SN12C COSM1684052 c.1497_1500delTGTT p.V500fs*>11 Deletion - Frameshift 5:181195202-181195205 - 2492722 COSM5720524 c.1431G>A p.V477V Substitution - coding silent 5:181195271-181195271 - OSCC-GB_00370111 COSM3715190 c.664G>T p.A222S Substitution - Missense 5:181200036-181200036 - LN18 COSM5712346 c.1418C>G p.S473C Substitution - Missense 5:181195284-181195284 - Pat_16_B COSM3012994 c.1153C>T p.R385C Substitution - Missense 5:181195549-181195549 - CSCC-38-T COSM4504315 c.661C>T p.Q221* Substitution - Nonsense 5:181200039-181200039 - TCGA-DR-A0ZM-01 COSM461993 c.475C>G p.R159G Substitution - Missense 5:181204636-181204636 - TCGA-AP-A0LM-01 COSM1066921 c.528C>A p.L176L Substitution - coding silent 5:181203635-181203635 - LUAD-RT-S01721 COSM380630 c.1130C>A p.P377H Substitution - Missense 5:181195572-181195572 - DU-145 COSM1672195 c.727C>T p.R243W Substitution - Missense 5:181199973-181199973 - 1N55-VS-1T55 COSM4977116 c.1098C>T p.L366L Substitution - coding silent 5:181195604-181195604 - PCSI_0310_Pa_P_526 COSM4965175 c.1250G>T p.S417I Substitution - Missense 5:181195452-181195452 - TCGA-CF-A27C-01 COSM591604 c.914C>G p.S305C Substitution - Missense 5:181198764-181198764 - PTC-88C COSM4159827 c.1127A>C p.H376P Substitution - Missense 5:181195575-181195575 - TCGA-41-2575-01 COSM3410200 c.1013A>T p.K338I Substitution - Missense 5:181198194-181198194 - Pat_16_A COSM3012994 c.1153C>T p.R385C Substitution - Missense 5:181195549-181195549 - WSU-HN30 COSM4600648 c.587C>G p.S196C Substitution - Missense 5:181203576-181203576 - 587342 COSM1230409 c.1255C>T p.R419C Substitution - Missense 5:181195447-181195447 - TCGA-CG-4305-01 COSM3854458 c.717G>T p.E239D Substitution - Missense 5:181199983-181199983 - TCGA-AP-A054-01 COSM1066916 c.1060C>T p.R354C Substitution - Missense 5:181195642-181195642 - PTC-28C COSM4159829 c.1087G>A p.G363S Substitution - Missense 5:181195615-181195615 - SNUH_G10_S1 COSM4003489 c.863C>T p.T288M Substitution - Missense 5:181199104-181199104 - TCGA-DA-A3F5-06 COSM3615047 c.978G>A p.K326K Substitution - coding silent 5:181198700-181198700 - TCGA-BS-A0TC-01 COSM1066915 c.1141G>A p.D381N Substitution - Missense 5:181195561-181195561 - 19M COSM5579767 c.911C>T p.S304F Substitution - Missense 5:181198767-181198767 - 53M COSM5595484 c.123C>T p.S41S Substitution - coding silent 5:181204988-181204988 - UM-SCC-11B COSM4159827 c.1127A>C p.H376P Substitution - Missense 5:181195575-181195575 - GC8_T COSM150034 c.773T>C p.V258A Substitution - Missense 5:181199927-181199927 - T3024 COSM1066916 c.1060C>T p.R354C Substitution - Missense 5:181195642-181195642 - LIM2551 COSM4644665 c.1480G>A p.V494M Substitution - Missense 5:181195222-181195222 - T8 COSM3373839 c.1182G>A p.S394S Substitution - coding silent 5:181195520-181195520 - CN-AML-CR-10-Dx COSM4159829 c.1087G>A p.G363S Substitution - Missense 5:181195615-181195615 - PT15_1 COSM5897558 c.1073C>T p.S358F Substitution - Missense 5:181195629-181195629 - TCGA-A8-A0A6-01 COSM3827900 c.647T>G p.V216G Substitution - Missense 5:181200053-181200053 - OSCC-GB_00310111 COSM3715054 c.728G>A p.R243Q Substitution - Missense 5:181199972-181199972 - PD9064a COSM5775810 c.267G>A p.Q89Q Substitution - coding silent 5:181204844-181204844 - SC_9054 COSM5555632 c.770G>A p.G257E Substitution - Missense 5:181199930-181199930 - PTC-53C COSM4159827 c.1127A>C p.H376P Substitution - Missense 5:181195575-181195575 - WSU-HN13 COSM4159827 c.1127A>C p.H376P Substitution - Missense 5:181195575-181195575 - TCGA-BG-A0LX-01 COSM1066914 c.1533T>C p.P511P Substitution - coding silent 5:181195169-181195169 - TCGA-70-6723-01 COSM737420 c.994C>A p.L332I Substitution - Missense 5:181198213-181198213 - CP66-MEL COSM24052 c.1259G>A p.R420Q Substitution - Missense 5:181195443-181195443 - 2492723 COSM5720524 c.1431G>A p.V477V Substitution - coding silent 5:181195271-181195271 - 360_T COSM3947355 c.1042C>T p.P348S Substitution - Missense 5:181195660-181195660 - TCGA-BR-8078-01 COSM3854448 c.1299G>A p.W433* Substitution - Nonsense 5:181195403-181195403 - BCB325T COSM4788555 c.1047C>A p.D349E Substitution - Missense 5:181195655-181195655 - BCB325T COSM4788555 c.1047C>A p.D349E Substitution - Missense 5:181195655-181195655 - TCGA-CD-A4MG-01 COSM3854446 c.1478G>A p.R493H Substitution - Missense 5:181195224-181195224 - 587342 COSM1230410 c.847C>T p.Q283* Substitution - Nonsense 5:181199853-181199853 - 37T COSM3715190 c.664G>T p.A222S Substitution - Missense 5:181200036-181200036 - LUAD-S00499 COSM385371 c.740A>T p.Q247L Substitution - Missense 5:181199960-181199960 - PTC-10C COSM4159827 c.1127A>C p.H376P Substitution - Missense 5:181195575-181195575 - TCGA-AP-A0LM-01 COSM1066917 c.1010A>G p.E337G Substitution - Missense 5:181198197-181198197 - GC_350T-GC_350N COSM4771993 c.1349G>A p.R450Q Substitution - Missense 5:181195353-181195353 - CHC320T COSM4159829 c.1087G>A p.G363S Substitution - Missense 5:181195615-181195615 - TCGA-EI-6513-01 COSM3429353 c.1001G>C p.G334A Substitution - Missense 5:181198206-181198206 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.487412 5q35.3 609315

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.V469A c.1406T>C 5 180622296 GBM C A IntronicSNV . c.849+9G>T 5 180626842 ALL C A Missense p.E239D c.717G>T 5 180626983 STAD C G Missense p.E400Q c.1198G>C 5 180622504 LUAD C G Synonymous p.R333R c.999G>C 5 180625208 CM C T 3-UTRSNV . c.1533+56G>A 5 180622113 RCCC C T Missense p.D381N c.1141G>A 5 180622561 UCEC C T Missense p.E330K c.988G>A 5 180625690 CM C T Missense p.E368K c.1102G>A 5 180622600 LGG C T Missense p.G422S c.1264G>A 5 180622438 CM C T Missense p.R291K c.872G>A 5 180626095 BRCA C T Missense p.R365H c.1094G>A 5 180622608 STAD C T Missense p.V418M c.1252G>A 5 180622450 STAD C T Synonymous p.K317K c.951G>A 5 180625727 CM C T Synonymous p.K326K c.978G>A 5 180625700 CM C T Synonymous p.Q230Q c.690G>A 5 180627010 OV C T Synonymous p.Q371Q c.1113G>A 5 180622589 CM C T Synonymous p.S394S c.1182G>A 5 180622520 THCA G A IntronicSNV . c.872+14C>T 5 180626081 STAD G A Missense p.R354C c.1060C>T 5 180622642 UCEC G A Missense p.R487C c.1459C>T 5 180622243 ESCA G A Synonymous p.T345T c.1035C>T 5 180622667 CM G C Missense p.Q275E c.823C>G 5 180626877 BRCA G C Missense p.S305C c.914C>G 5 180625764 BLCA G C Missense p.S305C c.914C>G 5 180625764 LUAD G T 3-UTRSNV . c.1533+1175C>A 5 180620994 HC G T Missense p.L332I c.994C>A 5 180625213 LUSC G T Missense p.R237S c.709C>A 5 180626991 UCEC G T Missense p.T382N c.1145C>A 5 180622557 LUSC T A Missense p.K338I c.1013A>T 5 180625194 GBM TG - 3-UTRDeletion . c.1533+638_1533+639delCA 5 180621530 STAD