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 11 18502153 18502153 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 g.chr11:18502153G>A c.1113C>T c.(1111-1113)ttC>ttT p.F371F BLCA 11 18503374 18503374 + Nonsense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr11:18503374C>A c.886G>T c.(886-888)Gaa>Taa p.E296* BLCA 11 18505487 18505487 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr11:18505487C>T c.773G>A c.(772-774)cGa>cAa p.R258Q BLCA 11 18548331 18548331 + Missense_Mutation SNP C C T TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr11:18548331C>T c.33G>A c.(31-33)atG>atA p.M11I BRCA 11 18503191 18503191 + Missense_Mutation SNP C C T TCGA-A8-A07W-01A-11W-A019-09 TCGA-A8-A07W-10A-01W-A021-09 g.chr11:18503191C>T c.1069G>A c.(1069-1071)Gat>Aat p.D357N BRCA 11 18503243 18503243 + Silent SNP T T C TCGA-D8-A1JD-01A-11D-A13L-09 TCGA-D8-A1JD-10A-01D-A13O-09 g.chr11:18503243T>C c.1017A>G c.(1015-1017)gaA>gaG p.E339E BRCA 11 18531179 18531179 + Missense_Mutation SNP T T C TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 g.chr11:18531179T>C c.391A>G c.(391-393)Atg>Gtg p.M131V BRCA 11 18537699 18537699 + Frame_Shift_Del DEL C C - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 g.chr11:18537699delC c.140delG c.(139-141)ggcfs p.G47fs CHOL 11 18536390 18536390 + Splice_Site SNP T T A TCGA-4G-AAZT-01A-11D-A417-09 TCGA-4G-AAZT-10A-01D-A41A-09 g.chr11:18536390T>A c.e4-2 COAD 11 18503399 18503400 + Frame_Shift_Ins INS - - T TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr11:18503399_18503400insT c.860_861insA c.(859-861)aacfs p.N287fs COAD 11 18503414 18503414 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr11:18503414G>A c.846C>T c.(844-846)gcC>gcT p.A282A COAD 11 18505466 18505466 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr11:18505466delT c.794delA c.(793-795)aagfs p.K265fs COAD 11 18505531 18505531 + Missense_Mutation SNP C C A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr11:18505531C>A c.729G>T c.(727-729)aaG>aaT p.K243N COAD 11 18524108 18524108 + Missense_Mutation SNP G G A TCGA-AA-3989-01A-01W-0995-10 TCGA-AA-3989-10A-01W-0999-10 g.chr11:18524108G>A c.565C>T c.(565-567)Cct>Tct p.P189S COAD 11 18528460 18528460 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:18528460C>T c.492G>A c.(490-492)atG>atA p.M164I COADREAD 11 18503399 18503400 + Frame_Shift_Ins INS - - T TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr11:18503399_18503400insT c.860_861insA c.(859-861)aacfs p.N287fs COADREAD 11 18503414 18503414 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr11:18503414G>A c.846C>T c.(844-846)gcC>gcT p.A282A COADREAD 11 18505466 18505466 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr11:18505466delT c.794delA c.(793-795)aagfs p.K265fs COADREAD 11 18505531 18505531 + Missense_Mutation SNP C C A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr11:18505531C>A c.729G>T c.(727-729)aaG>aaT p.K243N COADREAD 11 18524108 18524108 + Missense_Mutation SNP G G A TCGA-AA-3989-01A-01W-0995-10 TCGA-AA-3989-10A-01W-0999-10 g.chr11:18524108G>A c.565C>T c.(565-567)Cct>Tct p.P189S COADREAD 11 18528460 18528460 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:18528460C>T c.492G>A c.(490-492)atG>atA p.M164I ESCA 11 18502114 18502114 + Silent SNP G G T TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr11:18502114G>T c.1152C>A c.(1150-1152)gcC>gcA p.A384A ESCA 11 18502163 18502163 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr11:18502163C>T c.1103G>A c.(1102-1104)cGt>cAt p.R368H ESCA 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr11:18505466T>C c.794A>G c.(793-795)aAg>aGg p.K265R ESCA 11 18537669 18537669 + Missense_Mutation SNP C C G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr11:18537669C>G c.170G>C c.(169-171)gGa>gCa p.G57A GBMLGG 11 18503252 18503252 + Silent SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr11:18503252G>A c.1008C>T c.(1006-1008)aaC>aaT p.N336N GBMLGG 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-DU-8161-01A-11D-2253-08 TCGA-DU-8161-10A-01D-2253-08 g.chr11:18505466T>C c.794A>G c.(793-795)aAg>aGg p.K265R HNSC 11 18505527 18505527 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr11:18505527C>T c.733G>A c.(733-735)Gaa>Aaa p.E245K HNSC 11 18505528 18505528 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr11:18505528C>T c.732G>A c.(730-732)gaG>gaA p.E244E KIPAN 11 18505434 18505434 + Missense_Mutation SNP G G T TCGA-G7-6797-01A-11D-1961-08 TCGA-G7-6797-10A-01D-1962-08 g.chr11:18505434G>T c.826C>A c.(826-828)Cgt>Agt p.R276S KIPAN 11 18541141 18541142 + Frame_Shift_Del DEL TG TG - TCGA-J7-8537-01A-11D-2396-08 TCGA-J7-8537-10A-01D-2396-08 g.chr11:18541141_18541142delTG c.51_52delCA c.(49-54)tacagafs p.YR17fs KIRP 11 18505434 18505434 + Missense_Mutation SNP G G T TCGA-G7-6797-01A-11D-1961-08 TCGA-G7-6797-10A-01D-1962-08 g.chr11:18505434G>T c.826C>A c.(826-828)Cgt>Agt p.R276S KIRP 11 18541141 18541142 + Frame_Shift_Del DEL TG TG - TCGA-J7-8537-01A-11D-2396-08 TCGA-J7-8537-10A-01D-2396-08 g.chr11:18541141_18541142delTG c.51_52delCA c.(49-54)tacagafs p.YR17fs LGG 11 18503252 18503252 + Silent SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr11:18503252G>A c.1008C>T c.(1006-1008)aaC>aaT p.N336N LGG 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-DU-8161-01A-11D-2253-08 TCGA-DU-8161-10A-01D-2253-08 g.chr11:18505466T>C c.794A>G c.(793-795)aAg>aGg p.K265R LIHC 11 18502150 18502150 + Silent SNP C C T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr11:18502150C>T c.1116G>A c.(1114-1116)caG>caA p.Q372Q LIHC 11 18503415 18503415 + Splice_Site SNP G G C TCGA-DD-AAD1-01A-11D-A40R-10 TCGA-DD-AAD1-10A-01D-A40U-10 g.chr11:18503415G>C c.845C>G c.(844-846)gCc>gGc p.A282G LUAD 11 18503191 18503191 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 g.chr11:18503191C>A c.1069G>T c.(1069-1071)Gat>Tat p.D357Y LUAD 11 18503192 18503192 + Silent SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 g.chr11:18503192C>G c.1068G>C c.(1066-1068)ctG>ctC p.L356L LUAD 11 18503407 18503407 + Missense_Mutation SNP C C G TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr11:18503407C>G c.853G>C c.(853-855)Gat>Cat p.D285H LUAD 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr11:18505466T>C c.794A>G c.(793-795)aAg>aGg p.K265R LUAD 11 18505561 18505561 + Silent SNP C C T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr11:18505561C>T c.699G>A c.(697-699)gcG>gcA p.A233A LUAD 11 18528444 18528444 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr11:18528444C>T c.508G>A c.(508-510)Gga>Aga p.G170R LUAD 11 18541090 18541090 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr11:18541090G>C c.103C>G c.(103-105)Ctc>Gtc p.L35V LUSC 11 18503269 18503269 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr11:18503269G>A c.991C>T c.(991-993)Ctg>Ttg p.L331L LUSC 11 18536390 18536390 + Splice_Site SNP T T G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr11:18536390T>G c.e4-2 PAAD 11 18505562 18505562 + Missense_Mutation SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr11:18505562G>A c.698C>T c.(697-699)gCg>gTg p.A233V PAAD 11 18536312 18536312 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:18536312C>T c.270G>A c.(268-270)aaG>aaA p.K90K PAAD 11 18536328 18536328 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:18536328G>T c.254C>A c.(253-255)cCt>cAt p.P85H PRAD 11 18502173 18502173 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:18502173G>T c.1093C>A c.(1093-1095)Ctt>Att p.L365I PRAD 11 18503234 18503234 + Silent SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:18503234G>T c.1026C>A c.(1024-1026)atC>atA p.I342I PRAD 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 g.chr11:18505466T>C c.794A>G c.(793-795)aAg>aGg p.K265R PRAD 11 18541081 18541081 + Missense_Mutation SNP C C T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 g.chr11:18541081C>T c.112G>A c.(112-114)Gtt>Att p.V38I SKCM 11 18503293 18503293 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr11:18503293G>A c.967C>T c.(967-969)Ccc>Tcc p.P323S SKCM 11 18505466 18505466 + Frame_Shift_Del DEL T T - TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr11:18505466delT c.794delA c.(793-795)aagfs p.K265fs SKCM 11 18505616 18505616 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr11:18505616G>A c.644C>T c.(643-645)cCc>cTc p.P215L SKCM 11 18528434 18528434 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr11:18528434G>A c.518C>T c.(517-519)cCa>cTa p.P173L SKCM 11 18528467 18528467 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr11:18528467G>A c.485C>T c.(484-486)tCc>tTc p.S162F

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 11 18487256 18487256 single base substitution G A downstream_gene_variant BLCA-US 11 18503374 18503374 single base substitution C A downstream_gene_variant BLCA-US 11 18503374 18503374 single base substitution C A exon_variant BLCA-US 11 18503374 18503374 single base substitution C A stop_gained E191* 571G>T BLCA-US 11 18503374 18503374 single base substitution C A stop_gained E296* 886G>T BLCA-US 11 18503374 18503374 single base substitution C A upstream_gene_variant BOCA-FR 11 18514697 18514697 single base substitution G A intron_variant BOCA-UK 11 18502113 18502113 single base substitution C A downstream_gene_variant BOCA-UK 11 18502113 18502113 single base substitution C A exon_variant BOCA-UK 11 18502113 18502113 single base substitution C A intron_variant BOCA-UK 11 18502113 18502113 single base substitution C A missense_variant G280C 838G>T BOCA-UK 11 18502113 18502113 single base substitution C A missense_variant G385C 1153G>T BRCA-EU 11 18486753 18486753 single base substitution C T downstream_gene_variant BRCA-EU 11 18487490 18487490 single base substitution A G downstream_gene_variant BRCA-EU 11 18491719 18491719 single base substitution G A intron_variant BRCA-EU 11 18494736 18494736 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 18494736 18494736 deletion of <=200bp T - intron_variant BRCA-EU 11 18494898 18494898 single base substitution C A downstream_gene_variant BRCA-EU 11 18494898 18494898 single base substitution C A intron_variant BRCA-EU 11 18498550 18498550 single base substitution C G downstream_gene_variant BRCA-EU 11 18498550 18498550 single base substitution C G intron_variant BRCA-EU 11 18499665 18499665 single base substitution G C downstream_gene_variant BRCA-EU 11 18499665 18499665 single base substitution G C intron_variant BRCA-EU 11 18500907 18500907 single base substitution G C downstream_gene_variant BRCA-EU 11 18500907 18500907 single base substitution G C intron_variant BRCA-EU 11 18502165 18502165 single base substitution G T downstream_gene_variant BRCA-EU 11 18502165 18502165 single base substitution G T exon_variant BRCA-EU 11 18502165 18502165 single base substitution G T intron_variant BRCA-EU 11 18502165 18502165 single base substitution G T synonymous_variant S262S 786C>A BRCA-EU 11 18502165 18502165 single base substitution G T synonymous_variant S367S 1101C>A BRCA-EU 11 18502540 18502540 single base substitution C T downstream_gene_variant BRCA-EU 11 18502540 18502540 single base substitution C T intron_variant BRCA-EU 11 18504176 18504176 single base substitution C G downstream_gene_variant BRCA-EU 11 18504176 18504176 single base substitution C G intron_variant BRCA-EU 11 18504176 18504176 single base substitution C G upstream_gene_variant BRCA-EU 11 18505149 18505149 single base substitution C T downstream_gene_variant BRCA-EU 11 18505149 18505149 single base substitution C T intron_variant BRCA-EU 11 18505149 18505149 single base substitution C T upstream_gene_variant BRCA-EU 11 18509032 18509032 single base substitution C T downstream_gene_variant BRCA-EU 11 18509032 18509032 single base substitution C T intron_variant BRCA-EU 11 18509032 18509032 single base substitution C T upstream_gene_variant BRCA-EU 11 18509442 18509442 single base substitution T C downstream_gene_variant BRCA-EU 11 18509442 18509442 single base substitution T C intron_variant BRCA-EU 11 18509442 18509442 single base substitution T C upstream_gene_variant BRCA-EU 11 18510453 18510453 single base substitution A C downstream_gene_variant BRCA-EU 11 18510453 18510453 single base substitution A C intron_variant BRCA-EU 11 18510453 18510453 single base substitution A C upstream_gene_variant BRCA-EU 11 18512398 18512398 single base substitution A G exon_variant BRCA-EU 11 18512398 18512398 single base substitution A G intron_variant BRCA-EU 11 18513457 18513486 deletion of <=200bp TCTCTTTCACAGACTTAATATGAATTAAAG - intron_variant BRCA-EU 11 18513755 18513755 single base substitution T C intron_variant BRCA-EU 11 18514241 18514241 single base substitution T C intron_variant BRCA-EU 11 18514754 18514754 single base substitution G C intron_variant BRCA-EU 11 18517014 18517014 insertion of <=200bp - T intron_variant BRCA-EU 11 18517231 18517231 deletion of <=200bp G - intron_variant BRCA-EU 11 18518494 18518494 single base substitution C T intron_variant BRCA-EU 11 18522440 18522440 single base substitution T A downstream_gene_variant BRCA-EU 11 18522440 18522440 single base substitution T A intron_variant BRCA-EU 11 18522858 18522858 single base substitution T A downstream_gene_variant BRCA-EU 11 18522858 18522858 single base substitution T A intron_variant BRCA-EU 11 18523138 18523138 single base substitution T A downstream_gene_variant BRCA-EU 11 18523138 18523138 single base substitution T A intron_variant BRCA-EU 11 18523505 18523505 single base substitution C T downstream_gene_variant BRCA-EU 11 18523505 18523505 single base substitution C T intron_variant BRCA-EU 11 18528383 18528383 single base substitution C G downstream_gene_variant BRCA-EU 11 18528383 18528383 single base substitution C G intron_variant BRCA-EU 11 18529420 18529420 single base substitution C T intron_variant BRCA-EU 11 18530292 18530292 single base substitution G C intron_variant BRCA-EU 11 18531073 18531073 single base substitution T G intron_variant BRCA-EU 11 18531307 18531307 single base substitution G C intron_variant BRCA-EU 11 18531967 18531967 single base substitution C G intron_variant BRCA-EU 11 18533391 18533391 single base substitution C G intron_variant BRCA-EU 11 18536059 18536059 single base substitution T C intron_variant BRCA-EU 11 18536215 18536215 single base substitution G C intron_variant BRCA-EU 11 18536370 18536370 single base substitution G C exon_variant BRCA-EU 11 18536370 18536370 single base substitution G C intron_variant BRCA-EU 11 18536370 18536370 single base substitution G C missense_variant P71R 212C>G BRCA-EU 11 18538299 18538299 single base substitution A G intron_variant BRCA-EU 11 18538299 18538299 single base substitution A G upstream_gene_variant BRCA-EU 11 18538437 18538437 single base substitution G A intron_variant BRCA-EU 11 18538437 18538437 single base substitution G A upstream_gene_variant BRCA-EU 11 18539212 18539212 single base substitution G T intron_variant BRCA-EU 11 18539212 18539212 single base substitution G T upstream_gene_variant BRCA-EU 11 18540359 18540359 single base substitution G C intron_variant BRCA-EU 11 18540359 18540359 single base substitution G C upstream_gene_variant BRCA-EU 11 18540564 18540564 single base substitution T C intron_variant BRCA-EU 11 18540564 18540564 single base substitution T C upstream_gene_variant BRCA-EU 11 18542184 18542184 single base substitution G C intron_variant BRCA-EU 11 18544807 18544807 single base substitution C G intron_variant BRCA-EU 11 18545282 18545282 single base substitution C G intron_variant BRCA-EU 11 18545317 18545317 single base substitution G A intron_variant BRCA-EU 11 18545677 18545677 single base substitution C G intron_variant BRCA-EU 11 18547393 18547393 single base substitution C G intron_variant BRCA-EU 11 18548415 18548415 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 18548415 18548415 single base substitution G A exon_variant BRCA-EU 11 18548415 18548415 single base substitution G A upstream_gene_variant BRCA-EU 11 18548665 18548665 single base substitution C T 5_prime_UTR_variant BRCA-EU 11 18548665 18548665 single base substitution C T upstream_gene_variant BRCA-EU 11 18549008 18549008 insertion of <=200bp - T upstream_gene_variant BRCA-EU 11 18549499 18549499 single base substitution C G upstream_gene_variant BRCA-EU 11 18549735 18549735 single base substitution A G upstream_gene_variant BRCA-EU 11 18551200 18551200 single base substitution A C upstream_gene_variant BRCA-FR 11 18486753 18486753 single base substitution C T downstream_gene_variant BRCA-FR 11 18512398 18512398 single base substitution A G exon_variant BRCA-FR 11 18512398 18512398 single base substitution A G intron_variant BRCA-FR 11 18526027 18526027 single base substitution G A downstream_gene_variant BRCA-FR 11 18526027 18526027 single base substitution G A intron_variant BRCA-FR 11 18528195 18528195 single base substitution C G downstream_gene_variant BRCA-FR 11 18528195 18528195 single base substitution C G intron_variant BRCA-FR 11 18528383 18528383 single base substitution C G downstream_gene_variant BRCA-FR 11 18528383 18528383 single base substitution C G intron_variant BRCA-FR 11 18529420 18529420 single base substitution C T intron_variant BRCA-FR 11 18530292 18530292 single base substitution G C intron_variant BRCA-FR 11 18540359 18540359 single base substitution G C intron_variant BRCA-FR 11 18540359 18540359 single base substitution G C upstream_gene_variant BRCA-UK 11 18524100 18524100 single base substitution T G downstream_gene_variant BRCA-UK 11 18524100 18524100 single base substitution T G exon_variant BRCA-UK 11 18524100 18524100 single base substitution T G synonymous_variant P191P 573A>C BRCA-UK 11 18524100 18524100 single base substitution T G synonymous_variant P86P 258A>C BRCA-US 11 18503191 18503191 single base substitution C T downstream_gene_variant BRCA-US 11 18503191 18503191 single base substitution C T exon_variant BRCA-US 11 18503191 18503191 single base substitution C T missense_variant D252N 754G>A BRCA-US 11 18503191 18503191 single base substitution C T missense_variant D357N 1069G>A BRCA-US 11 18503243 18503243 single base substitution T C downstream_gene_variant BRCA-US 11 18503243 18503243 single base substitution T C exon_variant BRCA-US 11 18503243 18503243 single base substitution T C synonymous_variant E234E 702A>G BRCA-US 11 18503243 18503243 single base substitution T C synonymous_variant E339E 1017A>G BRCA-US 11 18524118 18524118 single base substitution G T downstream_gene_variant BRCA-US 11 18524118 18524118 single base substitution G T exon_variant BRCA-US 11 18524118 18524118 single base substitution G T stop_gained Y185* 555C>A BRCA-US 11 18524118 18524118 single base substitution G T stop_gained Y80* 240C>A BRCA-US 11 18531179 18531179 single base substitution T C exon_variant BRCA-US 11 18531179 18531179 single base substitution T C intron_variant BRCA-US 11 18531179 18531179 single base substitution T C missense_variant M131V 391A>G BRCA-US 11 18531179 18531179 single base substitution T C missense_variant M26V 76A>G BRCA-US 11 18537699 18537699 deletion of <=200bp C - exon_variant BRCA-US 11 18537699 18537699 deletion of <=200bp C - frameshift_variant G47 BRCA-US 11 18537699 18537699 deletion of <=200bp C - intron_variant BRCA-US 11 18537699 18537699 deletion of <=200bp C - upstream_gene_variant BTCA-JP 11 18499199 18499199 single base substitution C G downstream_gene_variant BTCA-JP 11 18499199 18499199 single base substitution C G intron_variant BTCA-JP 11 18536215 18536215 single base substitution G T intron_variant BTCA-JP 11 18537782 18537782 single base substitution A G intron_variant BTCA-JP 11 18537782 18537782 single base substitution A G upstream_gene_variant CESC-US 11 18485562 18485562 single base substitution G A downstream_gene_variant CLLE-ES 11 18489559 18489559 single base substitution T C downstream_gene_variant CLLE-ES 11 18497900 18497900 single base substitution A C downstream_gene_variant CLLE-ES 11 18497900 18497900 single base substitution A C intron_variant CLLE-ES 11 18511052 18511052 single base substitution T C downstream_gene_variant CLLE-ES 11 18511052 18511052 single base substitution T C intron_variant CLLE-ES 11 18511714 18511714 single base substitution A C downstream_gene_variant CLLE-ES 11 18511714 18511714 single base substitution A C intron_variant CLLE-ES 11 18513006 18513006 single base substitution T C intron_variant CLLE-ES 11 18518424 18518424 single base substitution G A intron_variant CLLE-ES 11 18522440 18522440 single base substitution T G downstream_gene_variant CLLE-ES 11 18522440 18522440 single base substitution T G intron_variant CLLE-ES 11 18538471 18538472 deletion of <=200bp AA - intron_variant CLLE-ES 11 18538471 18538472 deletion of <=200bp AA - upstream_gene_variant COAD-US 11 18485522 18485522 single base substitution A G downstream_gene_variant COAD-US 11 18487305 18487305 single base substitution C G downstream_gene_variant COAD-US 11 18497057 18497057 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 11 18497057 18497057 deletion of <=200bp A - downstream_gene_variant COAD-US 11 18497057 18497057 deletion of <=200bp A - intron_variant COAD-US 11 18497990 18497990 single base substitution A C downstream_gene_variant COAD-US 11 18497990 18497990 single base substitution A C intron_variant COAD-US 11 18498031 18498031 insertion of <=200bp - A downstream_gene_variant COAD-US 11 18498031 18498031 insertion of <=200bp - A intron_variant COAD-US 11 18503414 18503414 single base substitution G A downstream_gene_variant COAD-US 11 18503414 18503414 single base substitution G A splice_region_variant COAD-US 11 18503414 18503414 single base substitution G A upstream_gene_variant COAD-US 11 18505466 18505466 deletion of <=200bp T - downstream_gene_variant COAD-US 11 18505466 18505466 deletion of <=200bp T - exon_variant COAD-US 11 18505466 18505466 deletion of <=200bp T - frameshift_variant K160 COAD-US 11 18505466 18505466 deletion of <=200bp T - frameshift_variant K265 COAD-US 11 18505466 18505466 deletion of <=200bp T - upstream_gene_variant COAD-US 11 18528460 18528460 single base substitution C T exon_variant COAD-US 11 18528460 18528460 single base substitution C T intron_variant COAD-US 11 18528460 18528460 single base substitution C T missense_variant M164I 492G>A COAD-US 11 18528460 18528460 single base substitution C T missense_variant M59I 177G>A COCA-CN 11 18497106 18497106 single base substitution G A 3_prime_UTR_variant COCA-CN 11 18497106 18497106 single base substitution G A downstream_gene_variant COCA-CN 11 18497106 18497106 single base substitution G A intron_variant COCA-CN 11 18497920 18497920 single base substitution C A downstream_gene_variant COCA-CN 11 18497920 18497920 single base substitution C A intron_variant COCA-CN 11 18498515 18498515 single base substitution C T downstream_gene_variant COCA-CN 11 18498515 18498515 single base substitution C T intron_variant COCA-CN 11 18499309 18499309 single base substitution A G downstream_gene_variant COCA-CN 11 18499309 18499309 single base substitution A G intron_variant COCA-CN 11 18499345 18499345 single base substitution G T downstream_gene_variant COCA-CN 11 18499345 18499345 single base substitution G T intron_variant COCA-CN 11 18503318 18503318 single base substitution G A 5_prime_UTR_variant COCA-CN 11 18503318 18503318 single base substitution G A downstream_gene_variant COCA-CN 11 18503318 18503318 single base substitution G A exon_variant COCA-CN 11 18503318 18503318 single base substitution G A synonymous_variant I209I 627C>T COCA-CN 11 18503318 18503318 single base substitution G A synonymous_variant I314I 942C>T COCA-CN 11 18503318 18503318 single base substitution G A upstream_gene_variant COCA-CN 11 18512031 18512031 single base substitution C T downstream_gene_variant COCA-CN 11 18512031 18512031 single base substitution C T intron_variant COCA-CN 11 18512447 18512447 single base substitution T C exon_variant COCA-CN 11 18512447 18512447 single base substitution T C intron_variant COCA-CN 11 18512572 18512572 single base substitution T C exon_variant COCA-CN 11 18512572 18512572 single base substitution T C intron_variant COCA-CN 11 18524375 18524375 single base substitution G A downstream_gene_variant COCA-CN 11 18524375 18524375 single base substitution G A intron_variant COCA-CN 11 18531000 18531000 single base substitution G A intron_variant COCA-CN 11 18548546 18548546 single base substitution A G 5_prime_UTR_variant COCA-CN 11 18548546 18548546 single base substitution A G upstream_gene_variant EOPC-DE 11 18526156 18526156 single base substitution G A downstream_gene_variant EOPC-DE 11 18526156 18526156 single base substitution G A intron_variant ESAD-UK 11 18485070 18485070 single base substitution C G downstream_gene_variant ESAD-UK 11 18487699 18487699 single base substitution T A downstream_gene_variant ESAD-UK 11 18491904 18491904 single base substitution C A downstream_gene_variant ESAD-UK 11 18491904 18491904 single base substitution C A intron_variant ESAD-UK 11 18493892 18493892 single base substitution G A downstream_gene_variant ESAD-UK 11 18493892 18493892 single base substitution G A intron_variant ESAD-UK 11 18495869 18495869 single base substitution C T downstream_gene_variant ESAD-UK 11 18495869 18495869 single base substitution C T intron_variant ESAD-UK 11 18498152 18498152 single base substitution T C downstream_gene_variant ESAD-UK 11 18498152 18498152 single base substitution T C intron_variant ESAD-UK 11 18500636 18500636 single base substitution A C downstream_gene_variant ESAD-UK 11 18500636 18500636 single base substitution A C intron_variant ESAD-UK 11 18503347 18503347 insertion of <=200bp - T downstream_gene_variant ESAD-UK 11 18503347 18503347 insertion of <=200bp - T exon_variant ESAD-UK 11 18503347 18503347 insertion of <=200bp - T frameshift_variant M200N? ESAD-UK 11 18503347 18503347 insertion of <=200bp - T frameshift_variant M305N? ESAD-UK 11 18503347 18503347 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 18504929 18504929 single base substitution G A downstream_gene_variant ESAD-UK 11 18504929 18504929 single base substitution G A intron_variant ESAD-UK 11 18504929 18504929 single base substitution G A upstream_gene_variant ESAD-UK 11 18505425 18505425 single base substitution G T downstream_gene_variant ESAD-UK 11 18505425 18505425 single base substitution G T exon_variant ESAD-UK 11 18505425 18505425 single base substitution G T missense_variant Q174K 520C>A ESAD-UK 11 18505425 18505425 single base substitution G T missense_variant Q279K 835C>A ESAD-UK 11 18505425 18505425 single base substitution G T upstream_gene_variant ESAD-UK 11 18508865 18508865 single base substitution A C downstream_gene_variant ESAD-UK 11 18508865 18508865 single base substitution A C intron_variant ESAD-UK 11 18508865 18508865 single base substitution A C upstream_gene_variant ESAD-UK 11 18511407 18511407 single base substitution G T downstream_gene_variant ESAD-UK 11 18511407 18511407 single base substitution G T intron_variant ESAD-UK 11 18512328 18512328 single base substitution C A downstream_gene_variant ESAD-UK 11 18512328 18512328 single base substitution C A intron_variant ESAD-UK 11 18513651 18513651 single base substitution T C intron_variant ESAD-UK 11 18514389 18514389 single base substitution A C intron_variant ESAD-UK 11 18514494 18514494 single base substitution C G intron_variant ESAD-UK 11 18518508 18518508 single base substitution C T intron_variant ESAD-UK 11 18518595 18518595 single base substitution G A intron_variant ESAD-UK 11 18518650 18518650 single base substitution C A intron_variant ESAD-UK 11 18521803 18521803 single base substitution T G downstream_gene_variant ESAD-UK 11 18521803 18521803 single base substitution T G intron_variant ESAD-UK 11 18527954 18527954 single base substitution C T downstream_gene_variant ESAD-UK 11 18527954 18527954 single base substitution C T intron_variant ESAD-UK 11 18530406 18530406 single base substitution T C intron_variant ESAD-UK 11 18530456 18530456 single base substitution A G intron_variant ESAD-UK 11 18534790 18534790 single base substitution G C intron_variant ESAD-UK 11 18539556 18539556 single base substitution G C intron_variant ESAD-UK 11 18539556 18539556 single base substitution G C upstream_gene_variant ESAD-UK 11 18541810 18541810 single base substitution G A intron_variant ESAD-UK 11 18543851 18543851 single base substitution A G intron_variant ESAD-UK 11 18545581 18545581 single base substitution C T intron_variant ESAD-UK 11 18545676 18545676 single base substitution T A intron_variant ESAD-UK 11 18545865 18545865 deletion of <=200bp A - intron_variant ESAD-UK 11 18547412 18547412 single base substitution A T intron_variant ESAD-UK 11 18550370 18550370 single base substitution C T upstream_gene_variant ESAD-UK 11 18550830 18550830 single base substitution A G upstream_gene_variant ESAD-UK 11 18553468 18553468 single base substitution C A upstream_gene_variant GACA-CN 11 18503203 18503203 single base substitution C T downstream_gene_variant GACA-CN 11 18503203 18503203 single base substitution C T exon_variant GACA-CN 11 18503203 18503203 single base substitution C T missense_variant V248M 742G>A GACA-CN 11 18503203 18503203 single base substitution C T missense_variant V353M 1057G>A GBM-US 11 18487327 18487327 single base substitution C G downstream_gene_variant KIRP-US 11 18541141 18541142 deletion of <=200bp TG - exon_variant KIRP-US 11 18541141 18541142 deletion of <=200bp TG - frameshift_variant YR17 KIRP-US 11 18541141 18541142 deletion of <=200bp TG - intron_variant KIRP-US 11 18541141 18541142 deletion of <=200bp TG - upstream_gene_variant LAML-KR 11 18496018 18496018 single base substitution C T downstream_gene_variant LAML-KR 11 18496018 18496018 single base substitution C T intron_variant LAML-KR 11 18548351 18548351 single base substitution C A exon_variant LAML-KR 11 18548351 18548351 single base substitution C A stop_gained E5* 13G>T LGG-US 11 18503252 18503252 single base substitution G A downstream_gene_variant LGG-US 11 18503252 18503252 single base substitution G A exon_variant LGG-US 11 18503252 18503252 single base substitution G A synonymous_variant N231N 693C>T LGG-US 11 18503252 18503252 single base substitution G A synonymous_variant N336N 1008C>T LICA-CN 11 18505621 18505621 single base substitution T A splice_acceptor_variant LICA-CN 11 18505621 18505621 single base substitution T A upstream_gene_variant LICA-CN 11 18524113 18524113 single base substitution C T downstream_gene_variant LICA-CN 11 18524113 18524113 single base substitution C T exon_variant LICA-CN 11 18524113 18524113 single base substitution C T missense_variant G187D 560G>A LICA-CN 11 18524113 18524113 single base substitution C T missense_variant G82D 245G>A LICA-CN 11 18531192 18531192 single base substitution C A exon_variant LICA-CN 11 18531192 18531192 single base substitution C A intron_variant LICA-CN 11 18531192 18531192 single base substitution C A synonymous_variant G126G 378G>T LICA-CN 11 18531192 18531192 single base substitution C A synonymous_variant G21G 63G>T LICA-FR 11 18488489 18488489 single base substitution T G downstream_gene_variant LICA-FR 11 18490755 18490755 single base substitution G A 3_prime_UTR_variant LICA-FR 11 18490755 18490755 single base substitution G A missense_variant P365L 1094C>T LICA-FR 11 18493310 18493310 deletion of <=200bp A - downstream_gene_variant LICA-FR 11 18493310 18493310 deletion of <=200bp A - intron_variant LICA-FR 11 18493406 18493406 deletion of <=200bp T - downstream_gene_variant LICA-FR 11 18493406 18493406 deletion of <=200bp T - intron_variant LICA-FR 11 18497172 18497172 single base substitution A G 3_prime_UTR_variant LICA-FR 11 18497172 18497172 single base substitution A G downstream_gene_variant LICA-FR 11 18497172 18497172 single base substitution A G intron_variant LICA-FR 11 18497967 18497967 single base substitution C T downstream_gene_variant LICA-FR 11 18497967 18497967 single base substitution C T intron_variant LICA-FR 11 18514433 18514433 single base substitution C T intron_variant LICA-FR 11 18536347 18536347 single base substitution T C exon_variant LICA-FR 11 18536347 18536347 single base substitution T C intron_variant LICA-FR 11 18536347 18536347 single base substitution T C missense_variant T79A 235A>G LICA-FR 11 18542892 18542892 single base substitution G T intron_variant LIHC-US 11 18499168 18499168 single base substitution G T downstream_gene_variant LIHC-US 11 18499168 18499168 single base substitution G T intron_variant LIHC-US 11 18502150 18502150 single base substitution C T downstream_gene_variant LIHC-US 11 18502150 18502150 single base substitution C T exon_variant LIHC-US 11 18502150 18502150 single base substitution C T intron_variant LIHC-US 11 18502150 18502150 single base substitution C T synonymous_variant Q267Q 801G>A LIHC-US 11 18502150 18502150 single base substitution C T synonymous_variant Q372Q 1116G>A LINC-JP 11 18486350 18486350 single base substitution T C downstream_gene_variant LINC-JP 11 18486991 18486991 single base substitution A T downstream_gene_variant LINC-JP 11 18489132 18489132 single base substitution G A downstream_gene_variant LINC-JP 11 18489897 18489897 single base substitution T C 3_prime_UTR_variant LINC-JP 11 18489897 18489897 single base substitution T C downstream_gene_variant LINC-JP 11 18498074 18498074 single base substitution G T downstream_gene_variant LINC-JP 11 18498074 18498074 single base substitution G T intron_variant LINC-JP 11 18509300 18509300 single base substitution A T downstream_gene_variant LINC-JP 11 18509300 18509300 single base substitution A T intron_variant LINC-JP 11 18509300 18509300 single base substitution A T upstream_gene_variant LINC-JP 11 18524477 18524477 single base substitution T A downstream_gene_variant LINC-JP 11 18524477 18524477 single base substitution T A intron_variant LINC-JP 11 18525275 18525275 single base substitution T C downstream_gene_variant LINC-JP 11 18525275 18525275 single base substitution T C intron_variant LINC-JP 11 18547751 18547751 single base substitution T C intron_variant LIRI-JP 11 18485035 18485035 single base substitution T C downstream_gene_variant LIRI-JP 11 18487604 18487604 single base substitution T C downstream_gene_variant LIRI-JP 11 18489312 18489312 single base substitution A T downstream_gene_variant LIRI-JP 11 18489360 18489360 single base substitution G A downstream_gene_variant LIRI-JP 11 18489783 18489783 single base substitution T C downstream_gene_variant LIRI-JP 11 18490075 18490075 single base substitution C T 3_prime_UTR_variant LIRI-JP 11 18490075 18490075 single base substitution C T downstream_gene_variant LIRI-JP 11 18491241 18491241 single base substitution T C intron_variant LIRI-JP 11 18491677 18491677 single base substitution T C intron_variant LIRI-JP 11 18493184 18493184 single base substitution G A downstream_gene_variant LIRI-JP 11 18493184 18493184 single base substitution G A intron_variant LIRI-JP 11 18494772 18494772 single base substitution T C downstream_gene_variant LIRI-JP 11 18494772 18494772 single base substitution T C intron_variant LIRI-JP 11 18495536 18495536 single base substitution C A downstream_gene_variant LIRI-JP 11 18495536 18495536 single base substitution C A intron_variant LIRI-JP 11 18495617 18495617 single base substitution T C downstream_gene_variant LIRI-JP 11 18495617 18495617 single base substitution T C intron_variant LIRI-JP 11 18496084 18496084 single base substitution C T downstream_gene_variant LIRI-JP 11 18496084 18496084 single base substitution C T intron_variant LIRI-JP 11 18499645 18499645 single base substitution G C downstream_gene_variant LIRI-JP 11 18499645 18499645 single base substitution G C intron_variant LIRI-JP 11 18500512 18500512 single base substitution T C downstream_gene_variant LIRI-JP 11 18500512 18500512 single base substitution T C intron_variant LIRI-JP 11 18500846 18500846 single base substitution A C downstream_gene_variant LIRI-JP 11 18500846 18500846 single base substitution A C intron_variant LIRI-JP 11 18502873 18502873 deletion of <=200bp A - downstream_gene_variant LIRI-JP 11 18502873 18502873 deletion of <=200bp A - intron_variant LIRI-JP 11 18503831 18503831 single base substitution A C downstream_gene_variant LIRI-JP 11 18503831 18503831 single base substitution A C intron_variant LIRI-JP 11 18503831 18503831 single base substitution A C upstream_gene_variant LIRI-JP 11 18504400 18504400 single base substitution A C downstream_gene_variant LIRI-JP 11 18504400 18504400 single base substitution A C intron_variant LIRI-JP 11 18504400 18504400 single base substitution A C upstream_gene_variant LIRI-JP 11 18506840 18506840 single base substitution T C intron_variant LIRI-JP 11 18506840 18506840 single base substitution T C upstream_gene_variant LIRI-JP 11 18509347 18509347 single base substitution T G downstream_gene_variant LIRI-JP 11 18509347 18509347 single base substitution T G intron_variant LIRI-JP 11 18509347 18509347 single base substitution T G upstream_gene_variant LIRI-JP 11 18511080 18511080 single base substitution A G downstream_gene_variant LIRI-JP 11 18511080 18511080 single base substitution A G intron_variant LIRI-JP 11 18513428 18513428 single base substitution T C intron_variant LIRI-JP 11 18513616 18513616 single base substitution T A intron_variant LIRI-JP 11 18513967 18513967 single base substitution T C intron_variant LIRI-JP 11 18515252 18515252 single base substitution T C intron_variant LIRI-JP 11 18518186 18518186 single base substitution T C intron_variant LIRI-JP 11 18518862 18518862 single base substitution T G intron_variant LIRI-JP 11 18519851 18519851 single base substitution G C downstream_gene_variant LIRI-JP 11 18519851 18519851 single base substitution G C intron_variant LIRI-JP 11 18521471 18521471 single base substitution T C downstream_gene_variant LIRI-JP 11 18521471 18521471 single base substitution T C intron_variant LIRI-JP 11 18522856 18522856 single base substitution G A downstream_gene_variant LIRI-JP 11 18522856 18522856 single base substitution G A intron_variant LIRI-JP 11 18523321 18523321 single base substitution A G downstream_gene_variant LIRI-JP 11 18523321 18523321 single base substitution A G intron_variant LIRI-JP 11 18523763 18523763 single base substitution T G downstream_gene_variant LIRI-JP 11 18523763 18523763 single base substitution T G intron_variant LIRI-JP 11 18523970 18523970 single base substitution T C downstream_gene_variant LIRI-JP 11 18523970 18523970 single base substitution T C intron_variant LIRI-JP 11 18524093 18524093 single base substitution C T downstream_gene_variant LIRI-JP 11 18524093 18524093 single base substitution C T exon_variant LIRI-JP 11 18524093 18524093 single base substitution C T missense_variant G194S 580G>A LIRI-JP 11 18524093 18524093 single base substitution C T missense_variant G89S 265G>A LIRI-JP 11 18524944 18524944 single base substitution G T downstream_gene_variant LIRI-JP 11 18524944 18524944 single base substitution G T intron_variant LIRI-JP 11 18526639 18526639 single base substitution T C downstream_gene_variant LIRI-JP 11 18526639 18526639 single base substitution T C intron_variant LIRI-JP 11 18527652 18527652 single base substitution A T downstream_gene_variant LIRI-JP 11 18527652 18527652 single base substitution A T intron_variant LIRI-JP 11 18528241 18528241 single base substitution A T downstream_gene_variant LIRI-JP 11 18528241 18528241 single base substitution A T intron_variant LIRI-JP 11 18528249 18528249 single base substitution T A downstream_gene_variant LIRI-JP 11 18528249 18528249 single base substitution T A intron_variant LIRI-JP 11 18529460 18529460 single base substitution G T intron_variant LIRI-JP 11 18535544 18535544 single base substitution T C intron_variant LIRI-JP 11 18535775 18535775 single base substitution G A intron_variant LIRI-JP 11 18540315 18540315 single base substitution G A intron_variant LIRI-JP 11 18540315 18540315 single base substitution G A upstream_gene_variant LIRI-JP 11 18544018 18544018 single base substitution C T intron_variant LIRI-JP 11 18544527 18544527 single base substitution C A intron_variant LIRI-JP 11 18545503 18545503 single base substitution G T intron_variant LIRI-JP 11 18549095 18549095 single base substitution A G upstream_gene_variant LIRI-JP 11 18550164 18550164 single base substitution C G upstream_gene_variant LIRI-JP 11 18551921 18551921 single base substitution T G upstream_gene_variant LIRI-JP 11 18552943 18552943 single base substitution A G upstream_gene_variant LUSC-KR 11 18492325 18492325 single base substitution C A downstream_gene_variant LUSC-KR 11 18492325 18492325 single base substitution C A intron_variant LUSC-KR 11 18493243 18493243 single base substitution G A downstream_gene_variant LUSC-KR 11 18493243 18493243 single base substitution G A intron_variant LUSC-KR 11 18495547 18495547 single base substitution T C downstream_gene_variant LUSC-KR 11 18495547 18495547 single base substitution T C intron_variant LUSC-KR 11 18495711 18495711 single base substitution T C downstream_gene_variant LUSC-KR 11 18495711 18495711 single base substitution T C intron_variant LUSC-KR 11 18498133 18498133 single base substitution T A downstream_gene_variant LUSC-KR 11 18498133 18498133 single base substitution T A intron_variant LUSC-KR 11 18498136 18498136 single base substitution G T downstream_gene_variant LUSC-KR 11 18498136 18498136 single base substitution G T intron_variant LUSC-KR 11 18498534 18498534 single base substitution G T downstream_gene_variant LUSC-KR 11 18498534 18498534 single base substitution G T intron_variant LUSC-KR 11 18500937 18500937 single base substitution C A downstream_gene_variant LUSC-KR 11 18500937 18500937 single base substitution C A intron_variant LUSC-KR 11 18501459 18501459 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 18501459 18501459 single base substitution G A downstream_gene_variant LUSC-KR 11 18501459 18501459 single base substitution G A intron_variant LUSC-KR 11 18505147 18505147 single base substitution C T downstream_gene_variant LUSC-KR 11 18505147 18505147 single base substitution C T intron_variant LUSC-KR 11 18505147 18505147 single base substitution C T upstream_gene_variant LUSC-KR 11 18508493 18508493 single base substitution T G downstream_gene_variant LUSC-KR 11 18508493 18508493 single base substitution T G intron_variant LUSC-KR 11 18508493 18508493 single base substitution T G upstream_gene_variant LUSC-KR 11 18509773 18509773 single base substitution A G downstream_gene_variant LUSC-KR 11 18509773 18509773 single base substitution A G intron_variant LUSC-KR 11 18509773 18509773 single base substitution A G upstream_gene_variant LUSC-KR 11 18512447 18512447 single base substitution T C exon_variant LUSC-KR 11 18512447 18512447 single base substitution T C intron_variant LUSC-KR 11 18512469 18512469 single base substitution G T exon_variant LUSC-KR 11 18512469 18512469 single base substitution G T intron_variant LUSC-KR 11 18514579 18514579 single base substitution G C intron_variant LUSC-KR 11 18523533 18523533 single base substitution T C downstream_gene_variant LUSC-KR 11 18523533 18523533 single base substitution T C intron_variant LUSC-KR 11 18524208 18524208 single base substitution C T downstream_gene_variant LUSC-KR 11 18524208 18524208 single base substitution C T intron_variant LUSC-KR 11 18526039 18526039 single base substitution T A downstream_gene_variant LUSC-KR 11 18526039 18526039 single base substitution T A intron_variant LUSC-KR 11 18532706 18532706 single base substitution T C intron_variant LUSC-KR 11 18533917 18533917 single base substitution C G intron_variant LUSC-KR 11 18534781 18534781 single base substitution C G intron_variant LUSC-KR 11 18536350 18536350 single base substitution C A exon_variant LUSC-KR 11 18536350 18536350 single base substitution C A intron_variant LUSC-KR 11 18536350 18536350 single base substitution C A missense_variant D78Y 232G>T LUSC-US 11 18497181 18497181 single base substitution C T 3_prime_UTR_variant LUSC-US 11 18497181 18497181 single base substitution C T downstream_gene_variant LUSC-US 11 18497181 18497181 single base substitution C T intron_variant LUSC-US 11 18498018 18498018 single base substitution G C downstream_gene_variant LUSC-US 11 18498018 18498018 single base substitution G C intron_variant LUSC-US 11 18503269 18503269 single base substitution G A downstream_gene_variant LUSC-US 11 18503269 18503269 single base substitution G A exon_variant LUSC-US 11 18503269 18503269 single base substitution G A synonymous_variant L226L 676C>T LUSC-US 11 18503269 18503269 single base substitution G A synonymous_variant L331L 991C>T LUSC-US 11 18536390 18536390 single base substitution T G exon_variant LUSC-US 11 18536390 18536390 single base substitution T G intron_variant LUSC-US 11 18536390 18536390 single base substitution T G splice_acceptor_variant MALY-DE 11 18486826 18486826 single base substitution T C downstream_gene_variant MALY-DE 11 18500901 18500901 single base substitution T G downstream_gene_variant MALY-DE 11 18500901 18500901 single base substitution T G intron_variant MALY-DE 11 18501203 18501203 single base substitution A C downstream_gene_variant MALY-DE 11 18501203 18501203 single base substitution A C intron_variant MALY-DE 11 18504575 18504576 deletion of <=200bp GT - downstream_gene_variant MALY-DE 11 18504575 18504576 deletion of <=200bp GT - intron_variant MALY-DE 11 18504575 18504576 deletion of <=200bp GT - upstream_gene_variant MALY-DE 11 18512099 18512099 single base substitution T G downstream_gene_variant MALY-DE 11 18512099 18512099 single base substitution T G intron_variant MALY-DE 11 18518059 18518059 single base substitution C T intron_variant MALY-DE 11 18522586 18522586 single base substitution C T downstream_gene_variant MALY-DE 11 18522586 18522586 single base substitution C T intron_variant MALY-DE 11 18531230 18531230 single base substitution A G intron_variant MALY-DE 11 18533159 18533159 single base substitution C T intron_variant MALY-DE 11 18534490 18534490 single base substitution G A intron_variant MALY-DE 11 18535912 18535912 single base substitution G T intron_variant MALY-DE 11 18536231 18536231 single base substitution C T exon_variant MALY-DE 11 18536231 18536231 single base substitution C T intron_variant MALY-DE 11 18536231 18536231 single base substitution C T stop_gained W117* 351G>A MALY-DE 11 18549363 18549363 single base substitution T G upstream_gene_variant MELA-AU 11 18484898 18484898 single base substitution G T downstream_gene_variant MELA-AU 11 18485570 18485571 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 18485584 18485584 single base substitution G A downstream_gene_variant MELA-AU 11 18485828 18485828 single base substitution A T downstream_gene_variant MELA-AU 11 18486120 18486120 single base substitution G A downstream_gene_variant MELA-AU 11 18486592 18486592 single base substitution G A downstream_gene_variant MELA-AU 11 18486597 18486598 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 18486702 18486702 single base substitution C G downstream_gene_variant MELA-AU 11 18486704 18486704 single base substitution G A downstream_gene_variant MELA-AU 11 18486911 18486911 single base substitution G A downstream_gene_variant MELA-AU 11 18487014 18487014 single base substitution G A downstream_gene_variant MELA-AU 11 18489228 18489228 single base substitution A T downstream_gene_variant MELA-AU 11 18489328 18489328 single base substitution C A downstream_gene_variant MELA-AU 11 18489433 18489433 single base substitution T C downstream_gene_variant MELA-AU 11 18489715 18489715 single base substitution G A downstream_gene_variant MELA-AU 11 18489873 18489873 single base substitution G A downstream_gene_variant MELA-AU 11 18490076 18490077 multiple base substitution (>=2bp and <=200bp) GG AC 3_prime_UTR_variant MELA-AU 11 18490076 18490077 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 11 18490772 18490772 single base substitution G A intron_variant MELA-AU 11 18492806 18492806 single base substitution G A downstream_gene_variant MELA-AU 11 18492806 18492806 single base substitution G A intron_variant MELA-AU 11 18492977 18492977 single base substitution G A downstream_gene_variant MELA-AU 11 18492977 18492977 single base substitution G A intron_variant MELA-AU 11 18493404 18493404 single base substitution G A downstream_gene_variant MELA-AU 11 18493404 18493404 single base substitution G A intron_variant MELA-AU 11 18493944 18493944 single base substitution G A downstream_gene_variant MELA-AU 11 18493944 18493944 single base substitution G A intron_variant MELA-AU 11 18494017 18494017 single base substitution G A downstream_gene_variant MELA-AU 11 18494017 18494017 single base substitution G A intron_variant MELA-AU 11 18494872 18494872 single base substitution T C downstream_gene_variant MELA-AU 11 18494872 18494872 single base substitution T C intron_variant MELA-AU 11 18494889 18494889 single base substitution G A downstream_gene_variant MELA-AU 11 18494889 18494889 single base substitution G A intron_variant MELA-AU 11 18495574 18495574 single base substitution G A downstream_gene_variant MELA-AU 11 18495574 18495574 single base substitution G A intron_variant MELA-AU 11 18495651 18495651 single base substitution G A downstream_gene_variant MELA-AU 11 18495651 18495651 single base substitution G A intron_variant MELA-AU 11 18495817 18495818 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 18495817 18495818 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 18495876 18495876 single base substitution G T downstream_gene_variant MELA-AU 11 18495876 18495876 single base substitution G T intron_variant MELA-AU 11 18497089 18497090 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 11 18497089 18497090 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 18497089 18497090 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 18497817 18497817 single base substitution G A downstream_gene_variant MELA-AU 11 18497817 18497817 single base substitution G A intron_variant MELA-AU 11 18498423 18498423 single base substitution A C downstream_gene_variant MELA-AU 11 18498423 18498423 single base substitution A C intron_variant MELA-AU 11 18498718 18498718 single base substitution G A downstream_gene_variant MELA-AU 11 18498718 18498718 single base substitution G A intron_variant MELA-AU 11 18499174 18499174 single base substitution G A downstream_gene_variant MELA-AU 11 18499174 18499174 single base substitution G A intron_variant MELA-AU 11 18499338 18499339 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 18499338 18499339 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 18499594 18499594 single base substitution T C downstream_gene_variant MELA-AU 11 18499594 18499594 single base substitution T C intron_variant MELA-AU 11 18499697 18499697 single base substitution G A downstream_gene_variant MELA-AU 11 18499697 18499697 single base substitution G A intron_variant MELA-AU 11 18499795 18499795 single base substitution G A downstream_gene_variant MELA-AU 11 18499795 18499795 single base substitution G A intron_variant MELA-AU 11 18500230 18500230 single base substitution A G downstream_gene_variant MELA-AU 11 18500230 18500230 single base substitution A G intron_variant MELA-AU 11 18500936 18500936 single base substitution A G downstream_gene_variant MELA-AU 11 18500936 18500936 single base substitution A G intron_variant MELA-AU 11 18501406 18501406 single base substitution A C downstream_gene_variant MELA-AU 11 18501406 18501406 single base substitution A C intron_variant MELA-AU 11 18503293 18503293 single base substitution G A downstream_gene_variant MELA-AU 11 18503293 18503293 single base substitution G A exon_variant MELA-AU 11 18503293 18503293 single base substitution G A missense_variant P218S 652C>T MELA-AU 11 18503293 18503293 single base substitution G A missense_variant P323S 967C>T MELA-AU 11 18503293 18503293 single base substitution G A upstream_gene_variant MELA-AU 11 18506220 18506220 single base substitution T C intron_variant MELA-AU 11 18506220 18506220 single base substitution T C upstream_gene_variant MELA-AU 11 18506753 18506753 single base substitution T C intron_variant MELA-AU 11 18506753 18506753 single base substitution T C upstream_gene_variant MELA-AU 11 18507153 18507153 single base substitution T C intron_variant MELA-AU 11 18507153 18507153 single base substitution T C upstream_gene_variant MELA-AU 11 18507633 18507642 deletion of <=200bp TAGAGGGGAC - downstream_gene_variant MELA-AU 11 18507633 18507642 deletion of <=200bp TAGAGGGGAC - intron_variant MELA-AU 11 18507633 18507642 deletion of <=200bp TAGAGGGGAC - upstream_gene_variant MELA-AU 11 18507637 18507637 single base substitution G A downstream_gene_variant MELA-AU 11 18507637 18507637 single base substitution G A intron_variant MELA-AU 11 18507637 18507637 single base substitution G A upstream_gene_variant MELA-AU 11 18507638 18507638 single base substitution G A downstream_gene_variant MELA-AU 11 18507638 18507638 single base substitution G A intron_variant MELA-AU 11 18507638 18507638 single base substitution G A upstream_gene_variant MELA-AU 11 18507877 18507877 single base substitution G A downstream_gene_variant MELA-AU 11 18507877 18507877 single base substitution G A intron_variant MELA-AU 11 18507877 18507877 single base substitution G A upstream_gene_variant MELA-AU 11 18508847 18508847 single base substitution G A downstream_gene_variant MELA-AU 11 18508847 18508847 single base substitution G A intron_variant MELA-AU 11 18508847 18508847 single base substitution G A upstream_gene_variant MELA-AU 11 18509274 18509274 single base substitution G A downstream_gene_variant MELA-AU 11 18509274 18509274 single base substitution G A intron_variant MELA-AU 11 18509274 18509274 single base substitution G A upstream_gene_variant MELA-AU 11 18509354 18509354 single base substitution T C downstream_gene_variant MELA-AU 11 18509354 18509354 single base substitution T C intron_variant MELA-AU 11 18509354 18509354 single base substitution T C upstream_gene_variant MELA-AU 11 18510078 18510078 single base substitution G A downstream_gene_variant MELA-AU 11 18510078 18510078 single base substitution G A intron_variant MELA-AU 11 18510078 18510078 single base substitution G A upstream_gene_variant MELA-AU 11 18510168 18510168 single base substitution G A downstream_gene_variant MELA-AU 11 18510168 18510168 single base substitution G A intron_variant MELA-AU 11 18510168 18510168 single base substitution G A upstream_gene_variant MELA-AU 11 18510527 18510527 single base substitution T A downstream_gene_variant MELA-AU 11 18510527 18510527 single base substitution T A intron_variant MELA-AU 11 18510527 18510527 single base substitution T A upstream_gene_variant MELA-AU 11 18510581 18510581 single base substitution G A downstream_gene_variant MELA-AU 11 18510581 18510581 single base substitution G A intron_variant MELA-AU 11 18510581 18510581 single base substitution G A upstream_gene_variant MELA-AU 11 18510680 18510680 single base substitution G A downstream_gene_variant MELA-AU 11 18510680 18510680 single base substitution G A intron_variant MELA-AU 11 18512846 18512846 single base substitution G A intron_variant MELA-AU 11 18514976 18514977 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 18515095 18515096 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 18515300 18515300 single base substitution G A intron_variant MELA-AU 11 18515822 18515838 deletion of <=200bp TAAATCTGAAGGAGAGT - intron_variant MELA-AU 11 18516122 18516122 single base substitution G A intron_variant MELA-AU 11 18516523 18516523 single base substitution G A intron_variant MELA-AU 11 18516695 18516695 single base substitution G A intron_variant MELA-AU 11 18516753 18516753 single base substitution G A intron_variant MELA-AU 11 18517454 18517454 single base substitution G A intron_variant MELA-AU 11 18518227 18518227 single base substitution T A intron_variant MELA-AU 11 18518585 18518585 single base substitution C T intron_variant MELA-AU 11 18518587 18518587 single base substitution A T intron_variant MELA-AU 11 18518839 18518839 single base substitution G A intron_variant MELA-AU 11 18519314 18519314 single base substitution C T downstream_gene_variant MELA-AU 11 18519314 18519314 single base substitution C T intron_variant MELA-AU 11 18519337 18519337 single base substitution A C downstream_gene_variant MELA-AU 11 18519337 18519337 single base substitution A C intron_variant MELA-AU 11 18519437 18519437 single base substitution G A downstream_gene_variant MELA-AU 11 18519437 18519437 single base substitution G A intron_variant MELA-AU 11 18521332 18521332 single base substitution G A downstream_gene_variant MELA-AU 11 18521332 18521332 single base substitution G A intron_variant MELA-AU 11 18521757 18521757 single base substitution C T downstream_gene_variant MELA-AU 11 18521757 18521757 single base substitution C T intron_variant MELA-AU 11 18521830 18521830 single base substitution A C downstream_gene_variant MELA-AU 11 18521830 18521830 single base substitution A C intron_variant MELA-AU 11 18522415 18522415 single base substitution A C downstream_gene_variant MELA-AU 11 18522415 18522415 single base substitution A C intron_variant MELA-AU 11 18522755 18522756 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 18522755 18522756 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 18524518 18524518 single base substitution G A downstream_gene_variant MELA-AU 11 18524518 18524518 single base substitution G A intron_variant MELA-AU 11 18524875 18524875 single base substitution A G downstream_gene_variant MELA-AU 11 18524875 18524875 single base substitution A G intron_variant MELA-AU 11 18525260 18525260 single base substitution G A downstream_gene_variant MELA-AU 11 18525260 18525260 single base substitution G A intron_variant MELA-AU 11 18525594 18525594 single base substitution A G downstream_gene_variant MELA-AU 11 18525594 18525594 single base substitution A G intron_variant MELA-AU 11 18527424 18527424 single base substitution G A downstream_gene_variant MELA-AU 11 18527424 18527424 single base substitution G A intron_variant MELA-AU 11 18527909 18527909 single base substitution G A downstream_gene_variant MELA-AU 11 18527909 18527909 single base substitution G A intron_variant MELA-AU 11 18528271 18528271 single base substitution G A downstream_gene_variant MELA-AU 11 18528271 18528271 single base substitution G A intron_variant MELA-AU 11 18528745 18528745 single base substitution G C intron_variant MELA-AU 11 18528963 18528963 single base substitution G A intron_variant MELA-AU 11 18529079 18529079 single base substitution G A intron_variant MELA-AU 11 18530133 18530133 single base substitution G A intron_variant MELA-AU 11 18530189 18530189 single base substitution G A intron_variant MELA-AU 11 18530199 18530199 single base substitution G A intron_variant MELA-AU 11 18530859 18530859 single base substitution G A intron_variant MELA-AU 11 18531336 18531336 single base substitution G A intron_variant MELA-AU 11 18531609 18531609 single base substitution G A intron_variant MELA-AU 11 18531676 18531676 single base substitution G A intron_variant MELA-AU 11 18532186 18532186 single base substitution A C intron_variant MELA-AU 11 18532247 18532247 single base substitution A G intron_variant MELA-AU 11 18532379 18532379 single base substitution G A intron_variant MELA-AU 11 18532754 18532754 single base substitution G A intron_variant MELA-AU 11 18533150 18533150 single base substitution T C intron_variant MELA-AU 11 18533697 18533697 single base substitution A G intron_variant MELA-AU 11 18534494 18534494 single base substitution C T intron_variant MELA-AU 11 18535668 18535668 single base substitution G A intron_variant MELA-AU 11 18535769 18535769 single base substitution C T intron_variant MELA-AU 11 18536397 18536397 single base substitution G A exon_variant MELA-AU 11 18536397 18536397 single base substitution G A intron_variant MELA-AU 11 18536397 18536397 single base substitution G A upstream_gene_variant MELA-AU 11 18536961 18536961 single base substitution G A intron_variant MELA-AU 11 18536961 18536961 single base substitution G A upstream_gene_variant MELA-AU 11 18536982 18536982 single base substitution G A intron_variant MELA-AU 11 18536982 18536982 single base substitution G A upstream_gene_variant MELA-AU 11 18537131 18537131 single base substitution T A intron_variant MELA-AU 11 18537131 18537131 single base substitution T A upstream_gene_variant MELA-AU 11 18537548 18537548 single base substitution C T intron_variant MELA-AU 11 18537548 18537548 single base substitution C T upstream_gene_variant MELA-AU 11 18537579 18537579 single base substitution C T intron_variant MELA-AU 11 18537579 18537579 single base substitution C T upstream_gene_variant MELA-AU 11 18537995 18537995 single base substitution G A intron_variant MELA-AU 11 18537995 18537995 single base substitution G A upstream_gene_variant MELA-AU 11 18538113 18538113 single base substitution G A intron_variant MELA-AU 11 18538113 18538113 single base substitution G A upstream_gene_variant MELA-AU 11 18538572 18538572 single base substitution C T intron_variant MELA-AU 11 18538572 18538572 single base substitution C T upstream_gene_variant MELA-AU 11 18539470 18539470 single base substitution G A intron_variant MELA-AU 11 18539470 18539470 single base substitution G A upstream_gene_variant MELA-AU 11 18539982 18539982 single base substitution G A intron_variant MELA-AU 11 18539982 18539982 single base substitution G A upstream_gene_variant MELA-AU 11 18540265 18540265 single base substitution G A intron_variant MELA-AU 11 18540265 18540265 single base substitution G A upstream_gene_variant MELA-AU 11 18540777 18540777 single base substitution C T intron_variant MELA-AU 11 18540777 18540777 single base substitution C T upstream_gene_variant MELA-AU 11 18540992 18540992 single base substitution G A intron_variant MELA-AU 11 18540992 18540992 single base substitution G A upstream_gene_variant MELA-AU 11 18541547 18541547 single base substitution A G intron_variant MELA-AU 11 18542296 18542296 single base substitution C T intron_variant MELA-AU 11 18542403 18542403 single base substitution C G intron_variant MELA-AU 11 18544252 18544252 single base substitution G A intron_variant MELA-AU 11 18545460 18545460 single base substitution C T intron_variant MELA-AU 11 18545864 18545864 single base substitution G A intron_variant MELA-AU 11 18546462 18546462 single base substitution T A intron_variant MELA-AU 11 18546666 18546666 single base substitution G A intron_variant MELA-AU 11 18546794 18546794 single base substitution G A intron_variant MELA-AU 11 18546854 18546854 single base substitution G A intron_variant MELA-AU 11 18546872 18546872 single base substitution C T intron_variant MELA-AU 11 18547786 18547786 single base substitution G A intron_variant MELA-AU 11 18548095 18548095 single base substitution C T intron_variant MELA-AU 11 18548472 18548472 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 18548472 18548472 single base substitution G A upstream_gene_variant MELA-AU 11 18548473 18548473 single base substitution G A 5_prime_UTR_variant MELA-AU 11 18548473 18548473 single base substitution G A upstream_gene_variant MELA-AU 11 18548497 18548497 single base substitution C T 5_prime_UTR_variant MELA-AU 11 18548497 18548497 single base substitution C T upstream_gene_variant MELA-AU 11 18548517 18548517 single base substitution C T 5_prime_UTR_variant MELA-AU 11 18548517 18548517 single base substitution C T upstream_gene_variant MELA-AU 11 18549456 18549456 single base substitution A T upstream_gene_variant MELA-AU 11 18550181 18550181 single base substitution C A upstream_gene_variant MELA-AU 11 18552076 18552076 single base substitution G A upstream_gene_variant MELA-AU 11 18552458 18552458 single base substitution G A upstream_gene_variant ORCA-IN 11 18521425 18521425 single base substitution T C downstream_gene_variant ORCA-IN 11 18521425 18521425 single base substitution T C intron_variant ORCA-IN 11 18531827 18531827 single base substitution G A intron_variant OV-AU 11 18487345 18487345 single base substitution G T downstream_gene_variant OV-AU 11 18488796 18488796 single base substitution A C downstream_gene_variant OV-AU 11 18495049 18495049 single base substitution A G downstream_gene_variant OV-AU 11 18495049 18495049 single base substitution A G intron_variant OV-AU 11 18495903 18495903 single base substitution C T downstream_gene_variant OV-AU 11 18495903 18495903 single base substitution C T intron_variant OV-AU 11 18496399 18496399 single base substitution C G downstream_gene_variant OV-AU 11 18496399 18496399 single base substitution C G intron_variant OV-AU 11 18496486 18496486 single base substitution G T downstream_gene_variant OV-AU 11 18496486 18496486 single base substitution G T intron_variant OV-AU 11 18503995 18503995 single base substitution A G downstream_gene_variant OV-AU 11 18503995 18503995 single base substitution A G intron_variant OV-AU 11 18503995 18503995 single base substitution A G upstream_gene_variant OV-AU 11 18513908 18513908 single base substitution C A intron_variant OV-AU 11 18514421 18514421 single base substitution C T intron_variant OV-AU 11 18517213 18517213 single base substitution G T intron_variant OV-AU 11 18517884 18517884 single base substitution G C intron_variant OV-AU 11 18529687 18529687 single base substitution G C intron_variant OV-AU 11 18539184 18539184 single base substitution G A intron_variant OV-AU 11 18539184 18539184 single base substitution G A upstream_gene_variant OV-AU 11 18548463 18548463 single base substitution C G 5_prime_UTR_variant OV-AU 11 18548463 18548463 single base substitution C G exon_variant OV-AU 11 18548463 18548463 single base substitution C G upstream_gene_variant OV-AU 11 18549770 18549770 single base substitution A T upstream_gene_variant OV-AU 11 18549851 18549851 single base substitution T A upstream_gene_variant PACA-AU 11 18489583 18489583 single base substitution T C downstream_gene_variant PACA-AU 11 18490307 18490307 single base substitution G A 3_prime_UTR_variant PACA-AU 11 18490307 18490307 single base substitution G A downstream_gene_variant PACA-AU 11 18511980 18511980 single base substitution G C downstream_gene_variant PACA-AU 11 18511980 18511980 single base substitution G C intron_variant PACA-AU 11 18517460 18517460 single base substitution G A intron_variant PACA-AU 11 18518650 18518650 single base substitution C A intron_variant PACA-AU 11 18522925 18522925 single base substitution T C downstream_gene_variant PACA-AU 11 18522925 18522925 single base substitution T C intron_variant PACA-AU 11 18524421 18524421 single base substitution A C downstream_gene_variant PACA-AU 11 18524421 18524421 single base substitution A C intron_variant PACA-AU 11 18531884 18531884 single base substitution C T intron_variant PACA-AU 11 18531991 18531991 single base substitution T A intron_variant PACA-AU 11 18537406 18537406 single base substitution C T intron_variant PACA-AU 11 18537406 18537406 single base substitution C T upstream_gene_variant PACA-AU 11 18542354 18542354 single base substitution C T intron_variant PACA-AU 11 18544694 18544694 single base substitution C T intron_variant PACA-CA 11 18486386 18486386 single base substitution G A downstream_gene_variant PACA-CA 11 18487572 18487572 single base substitution C T downstream_gene_variant PACA-CA 11 18489503 18489504 deletion of <=200bp CG - downstream_gene_variant PACA-CA 11 18489515 18489516 deletion of <=200bp CG - downstream_gene_variant PACA-CA 11 18490495 18490495 single base substitution A T 3_prime_UTR_variant PACA-CA 11 18490495 18490495 single base substitution A T downstream_gene_variant PACA-CA 11 18492587 18492587 single base substitution G C downstream_gene_variant PACA-CA 11 18492587 18492587 single base substitution G C intron_variant PACA-CA 11 18493579 18493579 single base substitution A G downstream_gene_variant PACA-CA 11 18493579 18493579 single base substitution A G intron_variant PACA-CA 11 18496943 18496943 single base substitution A C 3_prime_UTR_variant PACA-CA 11 18496943 18496943 single base substitution A C downstream_gene_variant PACA-CA 11 18496943 18496943 single base substitution A C intron_variant PACA-CA 11 18496988 18496988 single base substitution C A 3_prime_UTR_variant PACA-CA 11 18496988 18496988 single base substitution C A downstream_gene_variant PACA-CA 11 18496988 18496988 single base substitution C A intron_variant PACA-CA 11 18503258 18503258 single base substitution T G downstream_gene_variant PACA-CA 11 18503258 18503258 single base substitution T G exon_variant PACA-CA 11 18503258 18503258 single base substitution T G missense_variant E229D 687A>C PACA-CA 11 18503258 18503258 single base substitution T G missense_variant E334D 1002A>C PACA-CA 11 18518506 18518506 single base substitution T C intron_variant PACA-CA 11 18518650 18518650 insertion of <=200bp - A intron_variant PACA-CA 11 18521311 18521311 single base substitution T C downstream_gene_variant PACA-CA 11 18521311 18521311 single base substitution T C intron_variant PACA-CA 11 18523158 18523158 single base substitution A G downstream_gene_variant PACA-CA 11 18523158 18523158 single base substitution A G intron_variant PACA-CA 11 18527472 18527472 single base substitution C T downstream_gene_variant PACA-CA 11 18527472 18527472 single base substitution C T intron_variant PACA-CA 11 18529108 18529108 single base substitution G A intron_variant PACA-CA 11 18542436 18542436 single base substitution G T intron_variant PACA-CA 11 18545118 18545118 single base substitution C T intron_variant PACA-CA 11 18547676 18547676 single base substitution T A intron_variant PAEN-AU 11 18505992 18505992 single base substitution C T intron_variant PAEN-AU 11 18505992 18505992 single base substitution C T upstream_gene_variant PAEN-IT 11 18514396 18514396 single base substitution G C intron_variant PAEN-IT 11 18517555 18517555 single base substitution G C intron_variant PBCA-DE 11 18490817 18490817 single base substitution C G intron_variant PBCA-DE 11 18493342 18493342 single base substitution G A downstream_gene_variant PBCA-DE 11 18493342 18493342 single base substitution G A intron_variant PBCA-DE 11 18500025 18500025 single base substitution T C downstream_gene_variant PBCA-DE 11 18500025 18500025 single base substitution T C intron_variant PBCA-DE 11 18517014 18517014 insertion of <=200bp - T intron_variant PBCA-DE 11 18526241 18526241 single base substitution C A downstream_gene_variant PBCA-DE 11 18526241 18526241 single base substitution C A intron_variant PBCA-DE 11 18534409 18534409 single base substitution G T intron_variant PBCA-DE 11 18541844 18541844 single base substitution C G intron_variant PBCA-DE 11 18548911 18548911 single base substitution C T upstream_gene_variant PRAD-CA 11 18489896 18489896 single base substitution C T 3_prime_UTR_variant PRAD-CA 11 18489896 18489896 single base substitution C T downstream_gene_variant PRAD-CA 11 18491939 18491939 single base substitution A G downstream_gene_variant PRAD-CA 11 18491939 18491939 single base substitution A G intron_variant PRAD-CA 11 18540868 18540868 single base substitution C G intron_variant PRAD-CA 11 18540868 18540868 single base substitution C G upstream_gene_variant PRAD-UK 11 18489404 18489404 insertion of <=200bp - A downstream_gene_variant PRAD-UK 11 18513470 18513470 single base substitution C G intron_variant PRAD-UK 11 18521959 18521959 single base substitution C A downstream_gene_variant PRAD-UK 11 18521959 18521959 single base substitution C A intron_variant PRAD-UK 11 18525954 18525954 single base substitution A C downstream_gene_variant PRAD-UK 11 18525954 18525954 single base substitution A C intron_variant PRAD-UK 11 18536821 18536821 single base substitution C G intron_variant PRAD-UK 11 18536821 18536821 single base substitution C G upstream_gene_variant PRAD-UK 11 18540857 18540857 deletion of <=200bp T - intron_variant PRAD-UK 11 18540857 18540857 deletion of <=200bp T - upstream_gene_variant PRAD-UK 11 18543504 18543504 single base substitution C T intron_variant PRAD-US 11 18505466 18505466 single base substitution T C downstream_gene_variant PRAD-US 11 18505466 18505466 single base substitution T C exon_variant PRAD-US 11 18505466 18505466 single base substitution T C missense_variant K160R 479A>G PRAD-US 11 18505466 18505466 single base substitution T C missense_variant K265R 794A>G PRAD-US 11 18505466 18505466 single base substitution T C upstream_gene_variant READ-US 11 18497014 18497014 single base substitution G A 3_prime_UTR_variant READ-US 11 18497014 18497014 single base substitution G A downstream_gene_variant READ-US 11 18497014 18497014 single base substitution G A intron_variant RECA-EU 11 18484897 18484897 single base substitution T A downstream_gene_variant RECA-EU 11 18485198 18485198 single base substitution A G downstream_gene_variant RECA-EU 11 18497374 18497374 single base substitution G A downstream_gene_variant RECA-EU 11 18497374 18497374 single base substitution G A intron_variant RECA-EU 11 18503227 18503227 single base substitution A G downstream_gene_variant RECA-EU 11 18503227 18503227 single base substitution A G exon_variant RECA-EU 11 18503227 18503227 single base substitution A G synonymous_variant L240L 718T>C RECA-EU 11 18503227 18503227 single base substitution A G synonymous_variant L345L 1033T>C RECA-EU 11 18518985 18518985 single base substitution A G intron_variant RECA-EU 11 18520031 18520031 single base substitution T C downstream_gene_variant RECA-EU 11 18520031 18520031 single base substitution T C intron_variant RECA-EU 11 18522143 18522143 single base substitution T A downstream_gene_variant RECA-EU 11 18522143 18522143 single base substitution T A intron_variant RECA-EU 11 18522620 18522620 single base substitution G T downstream_gene_variant RECA-EU 11 18522620 18522620 single base substitution G T intron_variant RECA-EU 11 18537290 18537290 single base substitution C G intron_variant RECA-EU 11 18537290 18537290 single base substitution C G upstream_gene_variant SKCA-BR 11 18486527 18486527 insertion of <=200bp - TTTTTTG downstream_gene_variant SKCA-BR 11 18486598 18486598 single base substitution G A downstream_gene_variant SKCA-BR 11 18488596 18488596 single base substitution G A downstream_gene_variant SKCA-BR 11 18488765 18488765 single base substitution C T downstream_gene_variant SKCA-BR 11 18489427 18489429 deletion of <=200bp CAT - downstream_gene_variant SKCA-BR 11 18489431 18489431 single base substitution T C downstream_gene_variant SKCA-BR 11 18489471 18489471 single base substitution C T downstream_gene_variant SKCA-BR 11 18489473 18489473 single base substitution C T downstream_gene_variant SKCA-BR 11 18489485 18489485 single base substitution C T downstream_gene_variant SKCA-BR 11 18489493 18489493 single base substitution T C downstream_gene_variant SKCA-BR 11 18489539 18489539 insertion of <=200bp - CAT downstream_gene_variant SKCA-BR 11 18489607 18489607 insertion of <=200bp - TATAC downstream_gene_variant SKCA-BR 11 18489609 18489609 single base substitution C T downstream_gene_variant SKCA-BR 11 18492757 18492757 insertion of <=200bp - GTT downstream_gene_variant SKCA-BR 11 18492757 18492757 insertion of <=200bp - GTT intron_variant SKCA-BR 11 18492757 18492758 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 11 18492757 18492758 deletion of <=200bp GT - intron_variant SKCA-BR 11 18500359 18500359 single base substitution C T downstream_gene_variant SKCA-BR 11 18500359 18500359 single base substitution C T intron_variant SKCA-BR 11 18501544 18501544 single base substitution A C 3_prime_UTR_variant SKCA-BR 11 18501544 18501544 single base substitution A C downstream_gene_variant SKCA-BR 11 18501544 18501544 single base substitution A C intron_variant SKCA-BR 11 18503059 18503059 single base substitution T G downstream_gene_variant SKCA-BR 11 18503059 18503059 single base substitution T G exon_variant SKCA-BR 11 18503059 18503059 single base substitution T G intron_variant SKCA-BR 11 18503061 18503061 single base substitution G A downstream_gene_variant SKCA-BR 11 18503061 18503061 single base substitution G A exon_variant SKCA-BR 11 18503061 18503061 single base substitution G A intron_variant SKCA-BR 11 18508311 18508311 single base substitution C A downstream_gene_variant SKCA-BR 11 18508311 18508311 single base substitution C A intron_variant SKCA-BR 11 18508311 18508311 single base substitution C A upstream_gene_variant SKCA-BR 11 18518002 18518002 single base substitution A C intron_variant SKCA-BR 11 18518004 18518005 deletion of <=200bp TA - intron_variant SKCA-BR 11 18518005 18518005 insertion of <=200bp - AAAAT intron_variant SKCA-BR 11 18519181 18519181 single base substitution G A downstream_gene_variant SKCA-BR 11 18519181 18519181 single base substitution G A intron_variant SKCA-BR 11 18522359 18522359 single base substitution T C downstream_gene_variant SKCA-BR 11 18522359 18522359 single base substitution T C intron_variant SKCA-BR 11 18524104 18524104 single base substitution T G downstream_gene_variant SKCA-BR 11 18524104 18524104 single base substitution T G exon_variant SKCA-BR 11 18524104 18524104 single base substitution T G missense_variant Y190S 569A>C SKCA-BR 11 18524104 18524104 single base substitution T G missense_variant Y85S 254A>C SKCA-BR 11 18525008 18525008 single base substitution T C downstream_gene_variant SKCA-BR 11 18525008 18525008 single base substitution T C intron_variant SKCA-BR 11 18527716 18527716 single base substitution G A downstream_gene_variant SKCA-BR 11 18527716 18527716 single base substitution G A intron_variant SKCA-BR 11 18527717 18527717 single base substitution G A downstream_gene_variant SKCA-BR 11 18527717 18527717 single base substitution G A intron_variant SKCA-BR 11 18528230 18528230 single base substitution C T downstream_gene_variant SKCA-BR 11 18528230 18528230 single base substitution C T intron_variant SKCA-BR 11 18529768 18529768 insertion of <=200bp - CT intron_variant SKCA-BR 11 18538201 18538201 single base substitution A C intron_variant SKCA-BR 11 18538201 18538201 single base substitution A C upstream_gene_variant SKCA-BR 11 18539943 18539943 single base substitution G A intron_variant SKCA-BR 11 18539943 18539943 single base substitution G A upstream_gene_variant SKCA-BR 11 18540895 18540895 single base substitution G A intron_variant SKCA-BR 11 18540895 18540895 single base substitution G A upstream_gene_variant SKCA-BR 11 18541618 18541618 single base substitution T C intron_variant SKCA-BR 11 18542582 18542582 single base substitution A G intron_variant SKCA-BR 11 18543215 18543216 deletion of <=200bp TC - intron_variant SKCA-BR 11 18543216 18543218 deletion of <=200bp CCT - intron_variant SKCA-BR 11 18544712 18544712 single base substitution G A intron_variant SKCA-BR 11 18546230 18546230 single base substitution C T intron_variant SKCA-BR 11 18547152 18547152 single base substitution C A intron_variant SKCA-BR 11 18548332 18548332 single base substitution A T exon_variant SKCA-BR 11 18548332 18548332 single base substitution A T missense_variant M11K 32T>A SKCA-BR 11 18548579 18548579 single base substitution T G 5_prime_UTR_variant SKCA-BR 11 18548579 18548579 single base substitution T G upstream_gene_variant SKCA-BR 11 18548957 18548957 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 11 18549923 18549924 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 11 18552909 18552909 single base substitution G A upstream_gene_variant SKCM-US 11 18485507 18485507 single base substitution G A downstream_gene_variant SKCM-US 11 18487325 18487325 single base substitution C T downstream_gene_variant SKCM-US 11 18498021 18498021 single base substitution A T downstream_gene_variant SKCM-US 11 18498021 18498021 single base substitution A T intron_variant SKCM-US 11 18500303 18500303 single base substitution G T downstream_gene_variant SKCM-US 11 18500303 18500303 single base substitution G T intron_variant SKCM-US 11 18500331 18500331 single base substitution A C downstream_gene_variant SKCM-US 11 18500331 18500331 single base substitution A C intron_variant SKCM-US 11 18503293 18503293 single base substitution G A downstream_gene_variant SKCM-US 11 18503293 18503293 single base substitution G A exon_variant SKCM-US 11 18503293 18503293 single base substitution G A missense_variant P218S 652C>T SKCM-US 11 18503293 18503293 single base substitution G A missense_variant P323S 967C>T SKCM-US 11 18503293 18503293 single base substitution G A upstream_gene_variant SKCM-US 11 18505466 18505466 deletion of <=200bp T - downstream_gene_variant SKCM-US 11 18505466 18505466 deletion of <=200bp T - exon_variant SKCM-US 11 18505466 18505466 deletion of <=200bp T - frameshift_variant K160 SKCM-US 11 18505466 18505466 deletion of <=200bp T - frameshift_variant K265 SKCM-US 11 18505466 18505466 deletion of <=200bp T - upstream_gene_variant SKCM-US 11 18505616 18505616 single base substitution G A exon_variant SKCM-US 11 18505616 18505616 single base substitution G A missense_variant P110L 329C>T SKCM-US 11 18505616 18505616 single base substitution G A missense_variant P215L 644C>T SKCM-US 11 18505616 18505616 single base substitution G A upstream_gene_variant SKCM-US 11 18528434 18528434 single base substitution G A exon_variant SKCM-US 11 18528434 18528434 single base substitution G A intron_variant SKCM-US 11 18528434 18528434 single base substitution G A missense_variant P173L 518C>T SKCM-US 11 18528434 18528434 single base substitution G A missense_variant P68L 203C>T SKCM-US 11 18528467 18528467 single base substitution G A exon_variant SKCM-US 11 18528467 18528467 single base substitution G A intron_variant SKCM-US 11 18528467 18528467 single base substitution G A missense_variant S162F 485C>T SKCM-US 11 18528467 18528467 single base substitution G A missense_variant S57F 170C>T STAD-US 11 18505470 18505470 single base substitution T C downstream_gene_variant STAD-US 11 18505470 18505470 single base substitution T C exon_variant STAD-US 11 18505470 18505470 single base substitution T C missense_variant K159E 475A>G STAD-US 11 18505470 18505470 single base substitution T C missense_variant K264E 790A>G STAD-US 11 18505470 18505470 single base substitution T C upstream_gene_variant STAD-US 11 18531130 18531130 single base substitution G A exon_variant STAD-US 11 18531130 18531130 single base substitution G A intron_variant STAD-US 11 18531130 18531130 single base substitution G A missense_variant S147L 440C>T STAD-US 11 18531130 18531130 single base substitution G A missense_variant S42L 125C>T STAD-US 11 18531132 18531132 single base substitution A T exon_variant STAD-US 11 18531132 18531132 single base substitution A T intron_variant STAD-US 11 18531132 18531132 single base substitution A T synonymous_variant I146I 438T>A STAD-US 11 18531132 18531132 single base substitution A T synonymous_variant I41I 123T>A STAD-US 11 18531139 18531139 single base substitution C T exon_variant STAD-US 11 18531139 18531139 single base substitution C T intron_variant STAD-US 11 18531139 18531139 single base substitution C T missense_variant R144H 431G>A STAD-US 11 18531139 18531139 single base substitution C T missense_variant R39H 116G>A STAD-US 11 18536371 18536371 single base substitution G A exon_variant STAD-US 11 18536371 18536371 single base substitution G A intron_variant STAD-US 11 18536371 18536371 single base substitution G A missense_variant P71S 211C>T THCA-SA 11 18501103 18501103 single base substitution G C downstream_gene_variant THCA-SA 11 18501103 18501103 single base substitution G C intron_variant THCA-US 11 18505466 18505466 single base substitution T C downstream_gene_variant THCA-US 11 18505466 18505466 single base substitution T C exon_variant THCA-US 11 18505466 18505466 single base substitution T C missense_variant K160R 479A>G THCA-US 11 18505466 18505466 single base substitution T C missense_variant K265R 794A>G THCA-US 11 18505466 18505466 single base substitution T C upstream_gene_variant UCEC-US 11 18485579 18485579 single base substitution A G downstream_gene_variant UCEC-US 11 18487239 18487239 single base substitution G T downstream_gene_variant UCEC-US 11 18487261 18487261 single base substitution G T downstream_gene_variant UCEC-US 11 18487289 18487293 deletion of <=200bp TTAAA - downstream_gene_variant UCEC-US 11 18497100 18497100 single base substitution G A 3_prime_UTR_variant UCEC-US 11 18497100 18497100 single base substitution G A downstream_gene_variant UCEC-US 11 18497100 18497100 single base substitution G A intron_variant UCEC-US 11 18497130 18497130 single base substitution G A 3_prime_UTR_variant UCEC-US 11 18497130 18497130 single base substitution G A downstream_gene_variant UCEC-US 11 18497130 18497130 single base substitution G A intron_variant UCEC-US 11 18497963 18497963 single base substitution G A downstream_gene_variant UCEC-US 11 18497963 18497963 single base substitution G A intron_variant UCEC-US 11 18499244 18499244 single base substitution T G downstream_gene_variant UCEC-US 11 18499244 18499244 single base substitution T G intron_variant UCEC-US 11 18499251 18499251 single base substitution G T downstream_gene_variant UCEC-US 11 18499251 18499251 single base substitution G T intron_variant UCEC-US 11 18503234 18503234 single base substitution G T downstream_gene_variant UCEC-US 11 18503234 18503234 single base substitution G T exon_variant UCEC-US 11 18503234 18503234 single base substitution G T synonymous_variant I237I 711C>A UCEC-US 11 18503234 18503234 single base substitution G T synonymous_variant I342I 1026C>A UCEC-US 11 18503300 18503300 single base substitution G A downstream_gene_variant UCEC-US 11 18503300 18503300 single base substitution G A exon_variant UCEC-US 11 18503300 18503300 single base substitution G A synonymous_variant P215P 645C>T UCEC-US 11 18503300 18503300 single base substitution G A synonymous_variant P320P 960C>T UCEC-US 11 18503300 18503300 single base substitution G A upstream_gene_variant UCEC-US 11 18503318 18503318 single base substitution G A 5_prime_UTR_variant UCEC-US 11 18503318 18503318 single base substitution G A downstream_gene_variant UCEC-US 11 18503318 18503318 single base substitution G A exon_variant UCEC-US 11 18503318 18503318 single base substitution G A synonymous_variant I209I 627C>T UCEC-US 11 18503318 18503318 single base substitution G A synonymous_variant I314I 942C>T UCEC-US 11 18503318 18503318 single base substitution G A upstream_gene_variant UCEC-US 11 18503371 18503371 single base substitution C A downstream_gene_variant UCEC-US 11 18503371 18503371 single base substitution C A exon_variant UCEC-US 11 18503371 18503371 single base substitution C A stop_gained E192* 574G>T UCEC-US 11 18503371 18503371 single base substitution C A stop_gained E297* 889G>T UCEC-US 11 18503371 18503371 single base substitution C A upstream_gene_variant UCEC-US 11 18505510 18505510 single base substitution C A exon_variant UCEC-US 11 18505510 18505510 single base substitution C A missense_variant Q145H 435G>T UCEC-US 11 18505510 18505510 single base substitution C A missense_variant Q250H 750G>T UCEC-US 11 18505510 18505510 single base substitution C A upstream_gene_variant UCEC-US 11 18528466 18528466 single base substitution G T exon_variant UCEC-US 11 18528466 18528466 single base substitution G T intron_variant UCEC-US 11 18528466 18528466 single base substitution G T synonymous_variant S162S 486C>A UCEC-US 11 18528466 18528466 single base substitution G T synonymous_variant S57S 171C>A UCEC-US 11 18536387 18536387 single base substitution A G exon_variant UCEC-US 11 18536387 18536387 single base substitution A G intron_variant UCEC-US 11 18536387 18536387 single base substitution A G splice_region_variant UCEC-US 11 18541126 18541126 single base substitution G A exon_variant UCEC-US 11 18541126 18541126 single base substitution G A intron_variant UCEC-US 11 18541126 18541126 single base substitution G A missense_variant R23C 67C>T UCEC-US 11 18541126 18541126 single base substitution G A upstream_gene_variant UCEC-US 11 18541149 18541149 single base substitution T C intron_variant UCEC-US 11 18541149 18541149 single base substitution T C missense_variant Y15C 44A>G UCEC-US 11 18541149 18541149 single base substitution T C splice_region_variant UCEC-US 11 18541149 18541149 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A3AA-06 COSM3445998 c.967C>T p.P323S Substitution - Missense 11:18481746-18481746 - CSCC-44-T COSM4547718 c.42G>A p.K14K Substitution - coding silent 11:18526775-18526775 - 49M COSM5593634 c.742C>T p.R248C Substitution - Missense 11:18483971-18483971 - HCT-15 COSM182242 c.729G>T p.K243N Substitution - Missense 11:18483984-18483984 - TCGA-EE-A29D-06 COSM3446001 c.485C>T p.S162F Substitution - Missense 11:18506920-18506920 - WSU-HN13 COSM4601462 c.521A>G p.Y174C Substitution - Missense 11:18506884-18506884 - TCGA-CA-6718-01 COSM1353051 c.846C>T p.A282A Substitution - coding silent 11:18481867-18481867 - PD11756a COSM5783340 c.212C>G p.P71R Substitution - Missense 11:18514823-18514823 - C0048T COSM4422660 c.1033T>C p.L345L Substitution - coding silent 11:18481680-18481680 - TCGA-EQ-5647-01 COSM4031913 c.790A>G p.K264E Substitution - Missense 11:18483923-18483923 - tumor_4166151 COSM5948453 c.351G>A p.W117* Substitution - Nonsense 11:18514684-18514684 - TCGA-D1-A103-01 COSM925659 c.195T>C p.G65G Substitution - coding silent 11:18514840-18514840 - J30_T COSM3979473 c.232G>T p.D78Y Substitution - Missense 11:18514803-18514803 - HCT116 COSM2092686 c.800A>G p.H267R Substitution - Missense 11:18483913-18483913 - MedB-1 COSM5622067 c.274A>G p.T92A Substitution - Missense 11:18514761-18514761 - TCGA-D3-A2JH-06 COSM3446000 c.518C>T p.P173L Substitution - Missense 11:18506887-18506887 - HCC153T COSM5823267 c.378G>T p.G126G Substitution - coding silent 11:18509645-18509645 - HN_63114 COSM129937 c.1102C>T p.R368C Substitution - Missense 11:18480617-18480617 - HN_62505 COSM129938 c.781G>A p.E261K Substitution - Missense 11:18483932-18483932 - TCGA-B5-A0JY-01 COSM925661 c.44A>G p.Y15C Substitution - Missense 11:18519602-18519602 - I2L-P19Ta-Tumor-Organoid COSM5360682 c.135C>T p.N45N Substitution - coding silent 11:18516157-18516157 - 5853_PT COSM5753644 c.907G>A p.E303K Substitution - Missense 11:18481806-18481806 - TCGA-D8-A1JD-01 COSM1475318 c.1017A>G p.E339E Substitution - coding silent 11:18481696-18481696 - TCGA-ES-A2HS-01 COSM4910417 c.1116G>A p.Q372Q Substitution - coding silent 11:18480603-18480603 - HCT15 COSM182242 c.729G>T p.K243N Substitution - Missense 11:18483984-18483984 - HCC118T COSM5813871 c.641-2A>T p.? Unknown 11:18484074-18484074 - TCGA-A8-A07W-01 COSM428785 c.1069G>A p.D357N Substitution - Missense 11:18481644-18481644 - TCGA-EE-A2MS-06 COSM3445999 c.644C>T p.P215L Substitution - Missense 11:18484069-18484069 - TCGA-CH-5789-01 COSM295858 c.555C>A p.Y185* Substitution - Nonsense 11:18502571-18502571 - TCGA-BR-8680-01 COSM4031917 c.211C>T p.P71S Substitution - Missense 11:18514824-18514824 - Pat_53_B COSM1353052 c.794delA p.K265fs*13 Deletion - Frameshift 11:18483919-18483919 - TCGA-B5-A11E-01 COSM925660 c.67C>T p.R23C Substitution - Missense 11:18519579-18519579 - T155 COSM1176929 c.992T>C p.L331P Substitution - Missense 11:18481721-18481721 - TCGA-F1-6177-01 COSM4031914 c.440C>T p.S147L Substitution - Missense 11:18509583-18509583 - TCGA-AB-2827-03 COSM1317346 c.469G>A p.G157R Substitution - Missense 11:18509554-18509554 - TCGA-A3-3365-01 COSM466634 c.43-2A>C p.? Unknown 11:18519605-18519605 - TCGA-A6-5661-01 COSM1353053 c.492G>A p.M164I Substitution - Missense 11:18506913-18506913 - TCGA-18-3421-01 COSM686996 c.194-2A>C p.? Unknown 11:18514843-18514843 - TCGA-B5-A11E-01 COSM925658 c.486C>A p.S162S Substitution - coding silent 11:18506919-18506919 - CN-AML-CR-25-Dx COSM5426666 c.13G>T p.E5* Substitution - Nonsense 11:18526804-18526804 - DLD1 COSM182242 c.729G>T p.K243N Substitution - Missense 11:18483984-18483984 - 2324293 COSM4771525 c.493C>T p.P165S Substitution - Missense 11:18506912-18506912 - 082T COSM295858 c.555C>A p.Y185* Substitution - Nonsense 11:18502571-18502571 - TCGA-AX-A0J0-01 COSM925655 c.942C>T p.I314I Substitution - coding silent 11:18481771-18481771 - ML_77_T_01 COSM5033997 c.569A>C p.Y190S Substitution - Missense 11:18502557-18502557 - ME043T COSM228544 c.94T>A p.Y32N Substitution - Missense 11:18519552-18519552 - NB-2074 COSM1288672 c.754G>T p.E252* Substitution - Nonsense 11:18483959-18483959 - T660 COSM1353052 c.794delA p.K265fs*13 Deletion - Frameshift 11:18483919-18483919 - Pat_01_B COSM5838281 c.614C>A p.P205H Substitution - Missense 11:18502512-18502512 - TCGA-CU-A3KJ-01 COSM3791392 c.886G>T p.E296* Substitution - Nonsense 11:18481827-18481827 - LC_S17 COSM1188185 c.1039G>T p.E347* Substitution - Nonsense 11:18481674-18481674 - CSCC-52-T COSM4460469 c.1167C>T p.L389L Substitution - coding silent 11:18480552-18480552 - TCGA-18-3409-01 COSM686997 c.991C>T p.L331L Substitution - coding silent 11:18481722-18481722 - TCGA-AA-3989-01 COSM298035 c.565C>T p.P189S Substitution - Missense 11:18502561-18502561 - PD4951a COSM5768497 c.1101C>A p.S367S Substitution - coding silent 11:18480618-18480618 - PD4005a COSM4411975 c.573A>C p.P191P Substitution - coding silent 11:18502553-18502553 - TCGA-G4-6628-01 COSM1353052 c.794delA p.K265fs*13 Deletion - Frameshift 11:18483919-18483919 - TCGA-AA-3972-01 COSM297338 c.860_861insA p.N287fs*10 Insertion - Frameshift 11:18481852-18481853 - SC_9096 COSM1470490 c.794A>G p.K265R Substitution - Missense 11:18483919-18483919 - BK0060 COSM4188384 c.108A>C p.K36N Substitution - Missense 11:18519538-18519538 - OV209PT COSM253309 c.549-3delT p.? Unknown 11:18502580-18502580 - ESCC_163 COSM686997 c.991C>T p.L331L Substitution - coding silent 11:18481722-18481722 - 3N56-VS-3T56 COSM4983772 c.1001A>G p.E334G Substitution - Missense 11:18481712-18481712 - A9 COSM5349662 c.22C>T p.L8F Substitution - Missense 11:18526795-18526795 - CSCC-20-T COSM4571830 c.552T>C p.G184G Substitution - coding silent 11:18502574-18502574 - TCGA-AA-3855-01 COSM295858 c.555C>A p.Y185* Substitution - Nonsense 11:18502571-18502571 - TCGA-BH-A1F6-01 COSM5831725 c.140delG p.G47fs*6 Deletion - Frameshift 11:18516152-18516152 - WA16 COSM238355 c.153A>G p.E51E Substitution - coding silent 11:18516139-18516139 - ESCC_81 COSM2092685 c.827G>A p.R276H Substitution - Missense 11:18483886-18483886 - ESO-887 COSM1268767 c.1152C>A p.A384A Substitution - coding silent 11:18480567-18480567 - TCGA-HT-8564-01 COSM3967443 c.1008C>T p.N336N Substitution - coding silent 11:18481705-18481705 - SNUH_G15_S1 COSM3676139 c.760A>C p.N254H Substitution - Missense 11:18483953-18483953 - TCGA-CE-A3MD-01 COSM1470490 c.794A>G p.K265R Substitution - Missense 11:18483919-18483919 - TCGA-F1-6177-01 COSM4031915 c.438T>A p.I146I Substitution - coding silent 11:18509585-18509585 - TCGA-EM-A3OB-01 COSM1470490 c.794A>G p.K265R Substitution - Missense 11:18483919-18483919 - TCGA-EJ-7328-01 COSM1470490 c.794A>G p.K265R Substitution - Missense 11:18483919-18483919 - PD6363a COSM1637217 c.1153G>T p.G385C Substitution - Missense 11:18480566-18480566 - TCGA-A8-A06R-01 COSM428786 c.391A>G p.M131V Substitution - Missense 11:18509632-18509632 - TCGA-AX-A063-01 COSM925657 c.750G>T p.Q250H Substitution - Missense 11:18483963-18483963 - TCGA-B5-A11N-01 COSM925656 c.889G>T p.E297* Substitution - Nonsense 11:18481824-18481824 - TCGA-AP-A059-01 COSM925654 c.960C>T p.P320P Substitution - coding silent 11:18481753-18481753 - CHC889T COSM4954417 c.235A>G p.T79A Substitution - Missense 11:18514800-18514800 - TCGA-AP-A0LM-01 COSM925653 c.1026C>A p.I342I Substitution - coding silent 11:18481687-18481687 - HCC125T COSM5822601 c.560G>A p.G187D Substitution - Missense 11:18502566-18502566 - RMS2090 COSM5880927 c.578G>C p.G193A Substitution - Missense 11:18502548-18502548 - GC7_T COSM147157 c.1057G>A p.V353M Substitution - Missense 11:18481656-18481656 - TCGA-CG-5728-01 COSM4031916 c.431G>A p.R144H Substitution - Missense 11:18509592-18509592 - WA19 COSM242086 c.826C>T p.R276C Substitution - Missense 11:18483887-18483887 - RK044_C01 COSM1627905 c.580G>A p.G194S Substitution - Missense 11:18502546-18502546 - TCGA-A7-A13E-01 COSM295858 c.555C>A p.Y185* Substitution - Nonsense 11:18502571-18502571 - CHC889T COSM4954417 c.235A>G p.T79A Substitution - Missense 11:18514800-18514800 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.523512 11p15 601387 2390505|CGAP|BC002487|A/T|non-coding||1312|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.641-6095T>G 11 18511714 CLL A T Missense p.Y32N c.94T>A 11 18541099 CM A T Synonymous p.I146I c.438T>A 11 18531132 STAD C A Missense p.Q250H c.750G>T 11 18505510 UCEC C A Nonsense p.E252* c.754G>T 11 18505506 NB C A Synonymous p.A233A c.699G>T 11 18505561 CM CC AG Missense p.D357Y c.1068_1069delinsCT 11 18503191 LUAD C G Missense p.Q268H c.804G>C 11 18505456 CM C T Missense p.D357N c.1069G>A 11 18503191 BRCA C T Missense p.E261K c.781G>A 11 18505479 HNSC C T Missense p.R144H c.431G>A 11 18531139 STAD C T Synonymous p.A233A c.699G>A 11 18505561 LUAD G A IntronicSNV . c.1083+84C>T 11 18503093 CM G A IntronicSNV . c.641-6777C>T 11 18512396 CM G A Missense p.P173L c.518C>T 11 18528434 CM G A Missense p.P189S c.565C>T 11 18524108 COREAD G A Missense p.P215L c.644C>T 11 18505616 CM G A Missense p.P323S c.967C>T 11 18503293 CM G A Missense p.R368C c.1102C>T 11 18502164 HNSC G A Missense p.S147L c.440C>T 11 18531130 STAD G A Missense p.S172F c.515C>T 11 18528437 CM G C Missense p.L35V c.103C>G 11 18541090 LUAD G C Synonymous p.L230L c.690C>G 11 18505570 STAD G T Missense p.R276S c.826C>A 11 18505434 LUAD G T Synonymous p.A384A c.1152C>A 11 18502114 ESCA T C Missense p.K264E c.790A>G 11 18505470 STAD T C Missense p.K265R c.794A>G 11 18505466 LGG T C Missense p.K265R c.794A>G 11 18505466 PRAD T C Missense p.M131V c.391A>G 11 18531179 BRCA T C Synonymous p.E339E c.1017A>G 11 18503243 BRCA T - Frameshift p.K265Rfs*13 c.794delA 11 18505466 CM - T Frameshift p.N287Kfs*10 c.860dupA 11 18503400 COREAD T G Missense p.E296D c.888A>C 11 18503372 CM T G SpliceAcceptorSNV . c.194-2A>C 11 18536390 LUSC