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 130106904 130106904 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr11:130106904C>G c.1352G>C c.(1351-1353)gGt>gCt p.G451A BLCA 11 130106920 130106920 + Missense_Mutation SNP G G A TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr11:130106920G>A c.1336C>T c.(1336-1338)Cgc>Tgc p.R446C BRCA 11 130109788 130109788 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 g.chr11:130109788G>A c.1022C>T c.(1021-1023)tCa>tTa p.S341L BRCA 11 130130903 130130903 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr11:130130903A>C c.866T>G c.(865-867)gTc>gGc p.V289G BRCA 11 130131407 130131407 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr11:130131407G>A c.362C>T c.(361-363)tCa>tTa p.S121L CHOL 11 130108461 130108461 + Missense_Mutation SNP G G T TCGA-W5-AA34-01A-11D-A417-09 TCGA-W5-AA34-10A-01D-A41A-09 g.chr11:130108461G>T c.1145C>A c.(1144-1146)cCt>cAt p.P382H COAD 11 130108408 130108408 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr11:130108408G>T c.1198C>A c.(1198-1200)Cag>Aag p.Q400K COAD 11 130131376 130131376 + Missense_Mutation SNP A A T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr11:130131376A>T c.393T>A c.(391-393)aaT>aaA p.N131K COAD 11 130131657 130131657 + Nonsense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:130131657G>A c.112C>T c.(112-114)Cag>Tag p.Q38* COAD 11 130131662 130131662 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:130131662C>T c.107G>A c.(106-108)cGt>cAt p.R36H COADREAD 11 130108408 130108408 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr11:130108408G>T c.1198C>A c.(1198-1200)Cag>Aag p.Q400K COADREAD 11 130130756 130130756 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:130130756G>T c.1013C>A c.(1012-1014)tCt>tAt p.S338Y COADREAD 11 130131186 130131186 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:130131186G>A c.583C>T c.(583-585)Cct>Tct p.P195S COADREAD 11 130131323 130131323 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:130131323G>T c.446C>A c.(445-447)tCt>tAt p.S149Y COADREAD 11 130131376 130131376 + Missense_Mutation SNP A A T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr11:130131376A>T c.393T>A c.(391-393)aaT>aaA p.N131K COADREAD 11 130131657 130131657 + Nonsense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:130131657G>A c.112C>T c.(112-114)Cag>Tag p.Q38* COADREAD 11 130131662 130131662 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:130131662C>T c.107G>A c.(106-108)cGt>cAt p.R36H GBM 11 130130851 130130851 + Silent SNP A A T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr11:130130851A>T c.918T>A c.(916-918)ccT>ccA p.P306P GBMLGG 11 130130851 130130851 + Silent SNP A A T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr11:130130851A>T c.918T>A c.(916-918)ccT>ccA p.P306P GBMLGG 11 130131194 130131194 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:130131194G>T c.575C>A c.(574-576)cCt>cAt p.P192H HNSC 11 130131282 130131282 + Missense_Mutation SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr11:130131282C>A c.487G>T c.(487-489)Gtg>Ttg p.V163L HNSC 11 130131646 130131646 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chr11:130131646G>C c.123C>G c.(121-123)atC>atG p.I41M HNSC 11 130131665 130131665 + Missense_Mutation SNP A A T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 g.chr11:130131665A>T c.104T>A c.(103-105)aTt>aAt p.I35N KIPAN 11 130131008 130131008 + Nonsense_Mutation SNP A A T TCGA-CZ-5466-01A-01D-1501-10 TCGA-CZ-5466-11A-01D-1501-10 g.chr11:130131008A>T c.761T>A c.(760-762)tTa>tAa p.L254* KIPAN 11 130131043 130131043 + Silent SNP A A T TCGA-B0-5106-01A-01D-1421-08 TCGA-B0-5106-11A-01D-1421-08 g.chr11:130131043A>T c.726T>A c.(724-726)ccT>ccA p.P242P KIPAN 11 130131061 130131061 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:130131061A>G c.708T>C c.(706-708)atT>atC p.I236I KIPAN 11 130131237 130131237 + Silent SNP G G T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 g.chr11:130131237G>T c.532C>A c.(532-534)Cga>Aga p.R178R KIPAN 11 130131510 130131510 + Nonsense_Mutation SNP C C A TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chr11:130131510C>A c.259G>T c.(259-261)Gaa>Taa p.E87* KIRC 11 130131008 130131008 + Nonsense_Mutation SNP A A T TCGA-CZ-5466-01A-01D-1501-10 TCGA-CZ-5466-11A-01D-1501-10 g.chr11:130131008A>T c.761T>A c.(760-762)tTa>tAa p.L254* KIRC 11 130131043 130131043 + Silent SNP A A T TCGA-B0-5106-01A-01D-1421-08 TCGA-B0-5106-11A-01D-1421-08 g.chr11:130131043A>T c.726T>A c.(724-726)ccT>ccA p.P242P KIRC 11 130131061 130131061 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:130131061A>G c.708T>C c.(706-708)atT>atC p.I236I KIRC 11 130131237 130131237 + Silent SNP G G T TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 g.chr11:130131237G>T c.532C>A c.(532-534)Cga>Aga p.R178R KIRC 11 130131510 130131510 + Nonsense_Mutation SNP C C A TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chr11:130131510C>A c.259G>T c.(259-261)Gaa>Taa p.E87* LGG 11 130131194 130131194 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:130131194G>T c.575C>A c.(574-576)cCt>cAt p.P192H LIHC 11 130131553 130131587 + Frame_Shift_Del DEL CAACACATTCTTGTTCTCATCCTCGGCTTGGCCTA CAACACATTCTTGTTCTCATCCTCGGCTTGGCCTA - TCGA-DD-AADS-01A-11D-A40R-10 TCGA-DD-AADS-10A-01D-A40U-10 g.chr11:130131553_130131587delCAACACATTCTTGTTCTCATCCTCGGCTTGGCCTA c.182_216delTAGGCCAAGCCGAGGATGAGAACAAGAATGTGTTG c.(181-216)gtaggccaagccgaggatgagaacaagaatgtgttgfs p.VGQAEDENKNVL61fs LUAD 11 130131094 130131094 + Silent SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr11:130131094G>C c.675C>G c.(673-675)tcC>tcG p.S225S LUAD 11 130131117 130131117 + Missense_Mutation SNP T T C TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr11:130131117T>C c.652A>G c.(652-654)Aga>Gga p.R218G LUAD 11 130131495 130131495 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr11:130131495C>T c.274G>A c.(274-276)Gcc>Acc p.A92T LUAD 11 130131510 130131510 + Missense_Mutation SNP C C G TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr11:130131510C>G c.259G>C c.(259-261)Gaa>Caa p.E87Q LUSC 11 130106942 130106942 + Missense_Mutation SNP C C A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr11:130106942C>A c.1314G>T c.(1312-1314)agG>agT p.R438S OV 11 130130762 130130762 + Missense_Mutation SNP G G A TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 g.chr11:130130762G>A c.1007C>T c.(1006-1008)tCt>tTt p.S336F PAAD 11 130108397 130108397 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:130108397G>T c.1209C>A c.(1207-1209)acC>acA p.T403T PAAD 11 130131642 130131642 + Missense_Mutation SNP G G A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr11:130131642G>A c.127C>T c.(127-129)Cgg>Tgg p.R43W PRAD 11 130106968 130106968 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:130106968C>T c.1288G>A c.(1288-1290)Gac>Aac p.D430N PRAD 11 130109742 130109742 + Silent SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 g.chr11:130109742C>T c.1068G>A c.(1066-1068)acG>acA p.T356T PRAD 11 130130970 130130970 + Missense_Mutation SNP C C G TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 g.chr11:130130970C>G c.799G>C c.(799-801)Gct>Cct p.A267P READ 11 130130756 130130756 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:130130756G>T c.1013C>A c.(1012-1014)tCt>tAt p.S338Y READ 11 130131186 130131186 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:130131186G>A c.583C>T c.(583-585)Cct>Tct p.P195S READ 11 130131323 130131323 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:130131323G>T c.446C>A c.(445-447)tCt>tAt p.S149Y SKCM 11 130106988 130106988 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr11:130106988C>T c.1268G>A c.(1267-1269)gGa>gAa p.G423E SKCM 11 130108498 130108498 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr11:130108498C>T c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K SKCM 11 130109726 130109726 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr11:130109726G>A c.1084C>T c.(1084-1086)Cct>Tct p.P362S SKCM 11 130131285 130131285 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr11:130131285G>A c.484C>T c.(484-486)Ccc>Tcc p.P162S SKCM 11 130131641 130131641 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:130131641C>G c.128G>C c.(127-129)cGg>cCg p.R43P SKCM 11 130131663 130131663 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr11:130131663G>A c.106C>T c.(106-108)Cgt>Tgt p.R36C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 11 130107235 130107235 single base substitution A T downstream_gene_variant BOCA-FR 11 130107235 130107235 single base substitution A T intron_variant BOCA-UK 11 130131190 130131190 single base substitution T G exon_variant BOCA-UK 11 130131190 130131190 single base substitution T G missense_variant E189D 567A>C BOCA-UK 11 130131190 130131190 single base substitution T G missense_variant E193D 579A>C BOCA-UK 11 130131190 130131190 single base substitution T G missense_variant E46D 138A>C BOCA-UK 11 130131190 130131190 single base substitution T G upstream_gene_variant BRCA-EU 11 130093929 130093929 single base substitution T C downstream_gene_variant BRCA-EU 11 130096917 130096917 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 11 130096917 130096917 insertion of <=200bp - A downstream_gene_variant BRCA-EU 11 130098131 130098131 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 130098131 130098131 single base substitution C G downstream_gene_variant BRCA-EU 11 130100010 130100010 single base substitution T A 3_prime_UTR_variant BRCA-EU 11 130100010 130100010 single base substitution T A downstream_gene_variant BRCA-EU 11 130100010 130100010 single base substitution T A intron_variant BRCA-EU 11 130100219 130100219 single base substitution T G 3_prime_UTR_variant BRCA-EU 11 130100219 130100219 single base substitution T G downstream_gene_variant BRCA-EU 11 130100219 130100219 single base substitution T G intron_variant BRCA-EU 11 130100865 130100865 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 130100865 130100865 single base substitution C G downstream_gene_variant BRCA-EU 11 130100865 130100865 single base substitution C G intron_variant BRCA-EU 11 130101919 130101919 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 130101919 130101919 single base substitution C T downstream_gene_variant BRCA-EU 11 130101919 130101919 single base substitution C T intron_variant BRCA-EU 11 130106087 130106087 single base substitution C G downstream_gene_variant BRCA-EU 11 130106087 130106087 single base substitution C G exon_variant BRCA-EU 11 130106087 130106087 single base substitution C G intron_variant BRCA-EU 11 130107770 130107770 single base substitution T C downstream_gene_variant BRCA-EU 11 130107770 130107770 single base substitution T C intron_variant BRCA-EU 11 130108444 130108444 single base substitution C G downstream_gene_variant BRCA-EU 11 130108444 130108444 single base substitution C G exon_variant BRCA-EU 11 130108444 130108444 single base substitution C G missense_variant E117Q 349G>C BRCA-EU 11 130108444 130108444 single base substitution C G missense_variant E241Q 721G>C BRCA-EU 11 130108444 130108444 single base substitution C G missense_variant E366Q 1096G>C BRCA-EU 11 130108444 130108444 single base substitution C G missense_variant E388Q 1162G>C BRCA-EU 11 130109440 130109440 single base substitution G C exon_variant BRCA-EU 11 130109440 130109440 single base substitution G C intron_variant BRCA-EU 11 130109440 130109440 single base substitution G C upstream_gene_variant BRCA-EU 11 130109676 130109676 single base substitution A C exon_variant BRCA-EU 11 130109676 130109676 single base substitution A C intron_variant BRCA-EU 11 130109676 130109676 single base substitution A C upstream_gene_variant BRCA-EU 11 130111299 130111299 single base substitution A C intron_variant BRCA-EU 11 130111299 130111299 single base substitution A C upstream_gene_variant BRCA-EU 11 130111547 130111547 insertion of <=200bp - T intron_variant BRCA-EU 11 130111547 130111547 insertion of <=200bp - T upstream_gene_variant BRCA-EU 11 130111547 130111548 deletion of <=200bp TT - intron_variant BRCA-EU 11 130111547 130111548 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 11 130112931 130112931 single base substitution G C intron_variant BRCA-EU 11 130112931 130112931 single base substitution G C upstream_gene_variant BRCA-EU 11 130115115 130115115 single base substitution T G intron_variant BRCA-EU 11 130117505 130117505 single base substitution G T intron_variant BRCA-EU 11 130117676 130117676 single base substitution A T intron_variant BRCA-EU 11 130118914 130118914 single base substitution G A intron_variant BRCA-EU 11 130120740 130120740 single base substitution A T intron_variant BRCA-EU 11 130120977 130120977 single base substitution C T intron_variant BRCA-EU 11 130121099 130121099 single base substitution G A intron_variant BRCA-EU 11 130121319 130121319 single base substitution C T intron_variant BRCA-EU 11 130121696 130121696 single base substitution A C intron_variant BRCA-EU 11 130121880 130121881 deletion of <=200bp AA - intron_variant BRCA-EU 11 130123685 130123685 single base substitution G A intron_variant BRCA-EU 11 130125411 130125411 single base substitution A C intron_variant BRCA-EU 11 130126146 130126146 single base substitution G T intron_variant BRCA-EU 11 130126732 130126732 single base substitution C G intron_variant BRCA-EU 11 130127546 130127546 insertion of <=200bp - T intron_variant BRCA-EU 11 130129830 130129830 single base substitution C G intron_variant BRCA-EU 11 130130264 130130264 single base substitution G A intron_variant BRCA-EU 11 130130964 130130964 single base substitution A C exon_variant BRCA-EU 11 130130964 130130964 single base substitution A C missense_variant Y122D 364T>G BRCA-EU 11 130130964 130130964 single base substitution A C missense_variant Y15D 43T>G BRCA-EU 11 130130964 130130964 single base substitution A C missense_variant Y265D 793T>G BRCA-EU 11 130130964 130130964 single base substitution A C missense_variant Y269D 805T>G BRCA-EU 11 130133440 130133440 single base substitution A C intron_variant BRCA-EU 11 130133440 130133440 single base substitution A C upstream_gene_variant BRCA-EU 11 130134003 130134003 single base substitution C G intron_variant BRCA-EU 11 130134003 130134003 single base substitution C G upstream_gene_variant BRCA-EU 11 130135411 130135411 single base substitution T G intron_variant BRCA-EU 11 130135411 130135411 single base substitution T G upstream_gene_variant BRCA-EU 11 130138785 130138785 insertion of <=200bp - AG intron_variant BRCA-EU 11 130138982 130138982 single base substitution C T intron_variant BRCA-EU 11 130140923 130140923 single base substitution G C intron_variant BRCA-EU 11 130141047 130141047 single base substitution G C intron_variant BRCA-EU 11 130145542 130145542 single base substitution G C intron_variant BRCA-EU 11 130147677 130147677 single base substitution C G intron_variant BRCA-EU 11 130148264 130148264 single base substitution T C intron_variant BRCA-EU 11 130148529 130148529 single base substitution C A intron_variant BRCA-EU 11 130148864 130148864 single base substitution G C intron_variant BRCA-EU 11 130149547 130149547 single base substitution C A intron_variant BRCA-EU 11 130150955 130150955 single base substitution G T intron_variant BRCA-EU 11 130151497 130151497 single base substitution G T intron_variant BRCA-EU 11 130152035 130152035 single base substitution G C intron_variant BRCA-EU 11 130153250 130153250 single base substitution C A intron_variant BRCA-EU 11 130155125 130155125 single base substitution T A intron_variant BRCA-EU 11 130157985 130157985 single base substitution C G intron_variant BRCA-EU 11 130159322 130159322 single base substitution A C intron_variant BRCA-EU 11 130160284 130160284 insertion of <=200bp - A intron_variant BRCA-EU 11 130160467 130160467 single base substitution C T intron_variant BRCA-EU 11 130161378 130161378 single base substitution C G intron_variant BRCA-EU 11 130162667 130162667 single base substitution G A intron_variant BRCA-EU 11 130162705 130162705 single base substitution C T intron_variant BRCA-EU 11 130162737 130162737 single base substitution C T intron_variant BRCA-EU 11 130163228 130163228 single base substitution G A intron_variant BRCA-EU 11 130164102 130164102 single base substitution G C intron_variant BRCA-EU 11 130164785 130164785 single base substitution T C intron_variant BRCA-EU 11 130168130 130168130 single base substitution C T intron_variant BRCA-EU 11 130168139 130168139 single base substitution G T intron_variant BRCA-EU 11 130168514 130168514 single base substitution C T intron_variant BRCA-EU 11 130170061 130170061 single base substitution G A intron_variant BRCA-EU 11 130173331 130173331 single base substitution G C intron_variant BRCA-EU 11 130173493 130173493 single base substitution G A intron_variant BRCA-EU 11 130173736 130173736 single base substitution C G intron_variant BRCA-EU 11 130175002 130175002 single base substitution G A intron_variant BRCA-EU 11 130175374 130175374 single base substitution C A intron_variant BRCA-EU 11 130177426 130177426 single base substitution C G intron_variant BRCA-EU 11 130179385 130179385 single base substitution G A intron_variant BRCA-EU 11 130179418 130179418 single base substitution G A intron_variant BRCA-EU 11 130180661 130180661 single base substitution G A intron_variant BRCA-EU 11 130181547 130181547 single base substitution A T intron_variant BRCA-EU 11 130182097 130182097 single base substitution C G intron_variant BRCA-EU 11 130182173 130182173 single base substitution A C intron_variant BRCA-EU 11 130182650 130182650 single base substitution G A intron_variant BRCA-EU 11 130183615 130183615 insertion of <=200bp - A intron_variant BRCA-EU 11 130183689 130183689 single base substitution C T intron_variant BRCA-EU 11 130184612 130184612 single base substitution G T upstream_gene_variant BRCA-EU 11 130185126 130185126 single base substitution C G upstream_gene_variant BRCA-EU 11 130186831 130186831 single base substitution T G upstream_gene_variant BRCA-EU 11 130187312 130187312 insertion of <=200bp - A upstream_gene_variant BRCA-EU 11 130189044 130189044 single base substitution G C upstream_gene_variant BRCA-EU 11 130189357 130189357 single base substitution T C upstream_gene_variant BRCA-FR 11 130114342 130114342 single base substitution C G intron_variant BRCA-FR 11 130127150 130127150 single base substitution A G intron_variant BRCA-FR 11 130145913 130145913 single base substitution G T intron_variant BRCA-FR 11 130160467 130160467 single base substitution C T intron_variant BRCA-FR 11 130184612 130184612 single base substitution G T upstream_gene_variant BRCA-KR 11 130130838 130130838 single base substitution G A exon_variant BRCA-KR 11 130130838 130130838 single base substitution G A stop_gained Q164* 490C>T BRCA-KR 11 130130838 130130838 single base substitution G A stop_gained Q307* 919C>T BRCA-KR 11 130130838 130130838 single base substitution G A stop_gained Q311* 931C>T BRCA-KR 11 130130838 130130838 single base substitution G A stop_gained Q57* 169C>T BRCA-UK 11 130108444 130108444 single base substitution C G downstream_gene_variant BRCA-UK 11 130108444 130108444 single base substitution C G exon_variant BRCA-UK 11 130108444 130108444 single base substitution C G missense_variant E117Q 349G>C BRCA-UK 11 130108444 130108444 single base substitution C G missense_variant E241Q 721G>C BRCA-UK 11 130108444 130108444 single base substitution C G missense_variant E366Q 1096G>C BRCA-UK 11 130108444 130108444 single base substitution C G missense_variant E388Q 1162G>C BRCA-UK 11 130143580 130143580 single base substitution C T intron_variant BRCA-UK 11 130162667 130162667 single base substitution G A intron_variant BRCA-UK 11 130169442 130169442 single base substitution C T intron_variant BRCA-UK 11 130173328 130173328 single base substitution C G intron_variant BRCA-US 11 130109788 130109788 single base substitution G A exon_variant BRCA-US 11 130109788 130109788 single base substitution G A missense_variant S194L 581C>T BRCA-US 11 130109788 130109788 single base substitution G A missense_variant S337L 1010C>T BRCA-US 11 130109788 130109788 single base substitution G A missense_variant S341L 1022C>T BRCA-US 11 130109788 130109788 single base substitution G A missense_variant S87L 260C>T BRCA-US 11 130109788 130109788 single base substitution G A upstream_gene_variant BRCA-US 11 130130903 130130903 single base substitution A C exon_variant BRCA-US 11 130130903 130130903 single base substitution A C missense_variant V142G 425T>G BRCA-US 11 130130903 130130903 single base substitution A C missense_variant V285G 854T>G BRCA-US 11 130130903 130130903 single base substitution A C missense_variant V289G 866T>G BRCA-US 11 130130903 130130903 single base substitution A C missense_variant V35G 104T>G BRCA-US 11 130131407 130131407 single base substitution G A exon_variant BRCA-US 11 130131407 130131407 single base substitution G A missense_variant S117L 350C>T BRCA-US 11 130131407 130131407 single base substitution G A missense_variant S121L 362C>T BRCA-US 11 130131407 130131407 single base substitution G A upstream_gene_variant BTCA-JP 11 130106105 130106105 single base substitution G C downstream_gene_variant BTCA-JP 11 130106105 130106105 single base substitution G C exon_variant BTCA-JP 11 130106105 130106105 single base substitution G C intron_variant BTCA-JP 11 130109665 130109665 single base substitution C T exon_variant BTCA-JP 11 130109665 130109665 single base substitution C T intron_variant BTCA-JP 11 130109665 130109665 single base substitution C T upstream_gene_variant BTCA-JP 11 130109862 130109862 single base substitution T C intron_variant BTCA-JP 11 130109862 130109862 single base substitution T C upstream_gene_variant BTCA-JP 11 130109896 130109896 single base substitution T C intron_variant BTCA-JP 11 130109896 130109896 single base substitution T C upstream_gene_variant BTCA-JP 11 130131827 130131827 deletion of <=200bp A - splice_region_variant BTCA-JP 11 130131827 130131827 deletion of <=200bp A - upstream_gene_variant CESC-US 11 130103259 130103259 single base substitution C A 3_prime_UTR_variant CESC-US 11 130103259 130103259 single base substitution C A downstream_gene_variant CESC-US 11 130103259 130103259 single base substitution C A missense_variant G310V 929G>T CESC-US 11 130103259 130103259 single base substitution C A missense_variant G457V 1370G>T CESC-US 11 130103259 130103259 single base substitution C A stop_gained E569* 1705G>T CESC-US 11 130104128 130104128 single base substitution C G 3_prime_UTR_variant CESC-US 11 130104128 130104128 single base substitution C G downstream_gene_variant CESC-US 11 130104128 130104128 single base substitution C G intron_variant CESC-US 11 130104128 130104128 single base substitution C G missense_variant E515Q 1543G>C CESC-US 11 130104128 130104128 single base substitution C G missense_variant E537Q 1609G>C CLLE-ES 11 130093907 130093907 insertion of <=200bp - T downstream_gene_variant CLLE-ES 11 130096978 130096978 single base substitution C T 3_prime_UTR_variant CLLE-ES 11 130096978 130096978 single base substitution C T downstream_gene_variant CLLE-ES 11 130113035 130113035 single base substitution T C intron_variant CLLE-ES 11 130113035 130113035 single base substitution T C upstream_gene_variant CLLE-ES 11 130127417 130127417 single base substitution G C intron_variant CLLE-ES 11 130164977 130164977 single base substitution A C intron_variant CLLE-ES 11 130166082 130166082 single base substitution A G intron_variant CLLE-ES 11 130187893 130187893 single base substitution C T upstream_gene_variant COAD-US 11 130108408 130108408 single base substitution G T downstream_gene_variant COAD-US 11 130108408 130108408 single base substitution G T exon_variant COAD-US 11 130108408 130108408 single base substitution G T missense_variant Q129K 385C>A COAD-US 11 130108408 130108408 single base substitution G T missense_variant Q253K 757C>A COAD-US 11 130108408 130108408 single base substitution G T missense_variant Q378K 1132C>A COAD-US 11 130108408 130108408 single base substitution G T missense_variant Q400K 1198C>A COAD-US 11 130131662 130131662 single base substitution C T exon_variant COAD-US 11 130131662 130131662 single base substitution C T missense_variant R32H 95G>A COAD-US 11 130131662 130131662 single base substitution C T missense_variant R36H 107G>A COAD-US 11 130131662 130131662 single base substitution C T upstream_gene_variant COCA-CN 11 130105997 130105997 single base substitution A C downstream_gene_variant COCA-CN 11 130105997 130105997 single base substitution A C intron_variant COCA-CN 11 130105997 130105997 single base substitution A C splice_region_variant COCA-CN 11 130106863 130106863 single base substitution T C downstream_gene_variant COCA-CN 11 130106863 130106863 single base substitution T C exon_variant COCA-CN 11 130106863 130106863 single base substitution T C intron_variant COCA-CN 11 130106863 130106863 single base substitution T C missense_variant T443A 1327A>G COCA-CN 11 130106863 130106863 single base substitution T C missense_variant T465A 1393A>G COCA-CN 11 130108441 130108441 single base substitution G T downstream_gene_variant COCA-CN 11 130108441 130108441 single base substitution G T exon_variant COCA-CN 11 130108441 130108441 single base substitution G T synonymous_variant R118R 352C>A COCA-CN 11 130108441 130108441 single base substitution G T synonymous_variant R242R 724C>A COCA-CN 11 130108441 130108441 single base substitution G T synonymous_variant R367R 1099C>A COCA-CN 11 130108441 130108441 single base substitution G T synonymous_variant R389R 1165C>A COCA-CN 11 130114582 130114582 single base substitution G A intron_variant COCA-CN 11 130121159 130121159 single base substitution C G intron_variant COCA-CN 11 130121160 130121160 single base substitution A G intron_variant COCA-CN 11 130131114 130131114 single base substitution T G exon_variant COCA-CN 11 130131114 130131114 single base substitution T G missense_variant N215H 643A>C COCA-CN 11 130131114 130131114 single base substitution T G missense_variant N219H 655A>C COCA-CN 11 130131114 130131114 single base substitution T G missense_variant N72H 214A>C COCA-CN 11 130131114 130131114 single base substitution T G upstream_gene_variant COCA-CN 11 130146142 130146142 single base substitution G A intron_variant COCA-CN 11 130159511 130159511 single base substitution T G intron_variant EOPC-DE 11 130112825 130112825 single base substitution C A intron_variant EOPC-DE 11 130112825 130112825 single base substitution C A upstream_gene_variant EOPC-DE 11 130117097 130117097 single base substitution T C intron_variant EOPC-DE 11 130153230 130153230 single base substitution C T intron_variant ESAD-UK 11 130091690 130091690 single base substitution C T downstream_gene_variant ESAD-UK 11 130093331 130093331 single base substitution C T downstream_gene_variant ESAD-UK 11 130100263 130100263 single base substitution T C 3_prime_UTR_variant ESAD-UK 11 130100263 130100263 single base substitution T C downstream_gene_variant ESAD-UK 11 130100263 130100263 single base substitution T C intron_variant ESAD-UK 11 130107215 130107215 single base substitution G C downstream_gene_variant ESAD-UK 11 130107215 130107215 single base substitution G C intron_variant ESAD-UK 11 130110584 130110584 single base substitution C A intron_variant ESAD-UK 11 130110584 130110584 single base substitution C A upstream_gene_variant ESAD-UK 11 130112756 130112756 single base substitution C G intron_variant ESAD-UK 11 130112756 130112756 single base substitution C G upstream_gene_variant ESAD-UK 11 130115389 130115389 single base substitution G A intron_variant ESAD-UK 11 130115397 130115397 single base substitution G A intron_variant ESAD-UK 11 130115399 130115399 single base substitution A G intron_variant ESAD-UK 11 130116175 130116175 single base substitution C T intron_variant ESAD-UK 11 130116502 130116502 single base substitution A G intron_variant ESAD-UK 11 130117647 130117647 single base substitution A C intron_variant ESAD-UK 11 130118557 130118557 deletion of <=200bp A - intron_variant ESAD-UK 11 130127482 130127482 single base substitution G T intron_variant ESAD-UK 11 130132492 130132492 single base substitution T C intron_variant ESAD-UK 11 130132492 130132492 single base substitution T C upstream_gene_variant ESAD-UK 11 130133738 130133738 single base substitution C A intron_variant ESAD-UK 11 130133738 130133738 single base substitution C A upstream_gene_variant ESAD-UK 11 130140487 130140506 deletion of <=200bp AAGAGTCCTATCTGCCTTTT - intron_variant ESAD-UK 11 130141576 130141576 deletion of <=200bp A - intron_variant ESAD-UK 11 130142726 130142726 single base substitution C T intron_variant ESAD-UK 11 130145713 130145713 deletion of <=200bp G - intron_variant ESAD-UK 11 130146070 130146070 single base substitution G A intron_variant ESAD-UK 11 130146872 130146872 single base substitution G A intron_variant ESAD-UK 11 130147539 130147551 deletion of <=200bp AAGAAAGGAGAAA - intron_variant ESAD-UK 11 130147930 130147930 single base substitution C G intron_variant ESAD-UK 11 130152896 130152896 deletion of <=200bp A - intron_variant ESAD-UK 11 130153088 130153088 single base substitution C T intron_variant ESAD-UK 11 130153548 130153548 insertion of <=200bp - T intron_variant ESAD-UK 11 130158492 130158492 single base substitution T G intron_variant ESAD-UK 11 130161274 130161274 single base substitution C T intron_variant ESAD-UK 11 130164470 130164470 single base substitution A C intron_variant ESAD-UK 11 130167313 130167313 single base substitution G A intron_variant ESAD-UK 11 130170997 130170997 single base substitution A C intron_variant ESAD-UK 11 130171926 130171926 single base substitution G A intron_variant ESAD-UK 11 130173399 130173399 single base substitution G A intron_variant ESAD-UK 11 130173515 130173515 single base substitution A C intron_variant ESAD-UK 11 130174519 130174519 single base substitution A T intron_variant ESAD-UK 11 130175284 130175284 single base substitution G A intron_variant ESAD-UK 11 130177593 130177593 single base substitution G A intron_variant ESAD-UK 11 130177915 130177915 single base substitution G T intron_variant ESAD-UK 11 130178505 130178513 deletion of <=200bp TGTTAGCAT - intron_variant ESAD-UK 11 130180994 130180994 single base substitution G A intron_variant ESAD-UK 11 130183615 130183615 deletion of <=200bp A - intron_variant ESAD-UK 11 130183862 130183863 deletion of <=200bp TT - intron_variant ESCA-CN 11 130106952 130106952 single base substitution T C downstream_gene_variant ESCA-CN 11 130106952 130106952 single base substitution T C exon_variant ESCA-CN 11 130106952 130106952 single base substitution T C missense_variant K164R 491A>G ESCA-CN 11 130106952 130106952 single base substitution T C missense_variant K288R 863A>G ESCA-CN 11 130106952 130106952 single base substitution T C missense_variant K413R 1238A>G ESCA-CN 11 130106952 130106952 single base substitution T C missense_variant K435R 1304A>G GBM-US 11 130130851 130130851 single base substitution A T exon_variant GBM-US 11 130130851 130130851 single base substitution A T synonymous_variant P159P 477T>A GBM-US 11 130130851 130130851 single base substitution A T synonymous_variant P302P 906T>A GBM-US 11 130130851 130130851 single base substitution A T synonymous_variant P306P 918T>A GBM-US 11 130130851 130130851 single base substitution A T synonymous_variant P52P 156T>A KIRC-US 11 130131008 130131008 single base substitution A T exon_variant KIRC-US 11 130131008 130131008 single base substitution A T stop_gained L107* 320T>A KIRC-US 11 130131008 130131008 single base substitution A T stop_gained L250* 749T>A KIRC-US 11 130131008 130131008 single base substitution A T stop_gained L254* 761T>A KIRC-US 11 130131008 130131008 single base substitution A T upstream_gene_variant KIRC-US 11 130131043 130131043 single base substitution A T exon_variant KIRC-US 11 130131043 130131043 single base substitution A T synonymous_variant P238P 714T>A KIRC-US 11 130131043 130131043 single base substitution A T synonymous_variant P242P 726T>A KIRC-US 11 130131043 130131043 single base substitution A T synonymous_variant P95P 285T>A KIRC-US 11 130131043 130131043 single base substitution A T upstream_gene_variant LAML-KR 11 130103037 130103037 single base substitution A G 3_prime_UTR_variant LAML-KR 11 130103037 130103037 single base substitution A G downstream_gene_variant LAML-KR 11 130103037 130103037 single base substitution A G intron_variant LAML-KR 11 130103127 130103127 single base substitution C G 3_prime_UTR_variant LAML-KR 11 130103127 130103127 single base substitution C G downstream_gene_variant LAML-KR 11 130103127 130103127 single base substitution C G intron_variant LAML-KR 11 130103739 130103739 single base substitution G T 3_prime_UTR_variant LAML-KR 11 130103739 130103739 single base substitution G T downstream_gene_variant LAML-KR 11 130103739 130103739 single base substitution G T intron_variant LAML-KR 11 130104095 130104095 single base substitution C T 3_prime_UTR_variant LAML-KR 11 130104095 130104095 single base substitution C T downstream_gene_variant LAML-KR 11 130104095 130104095 single base substitution C T intron_variant LAML-KR 11 130104095 130104095 single base substitution C T missense_variant G526S 1576G>A LAML-KR 11 130104095 130104095 single base substitution C T missense_variant G548S 1642G>A LAML-KR 11 130165332 130165332 single base substitution G A intron_variant LAML-KR 11 130189327 130189327 single base substitution G C upstream_gene_variant LICA-FR 11 130098391 130098391 single base substitution T A 3_prime_UTR_variant LICA-FR 11 130098391 130098391 single base substitution T A downstream_gene_variant LICA-FR 11 130098391 130098391 single base substitution T A intron_variant LICA-FR 11 130103037 130103037 single base substitution A G 3_prime_UTR_variant LICA-FR 11 130103037 130103037 single base substitution A G downstream_gene_variant LICA-FR 11 130103037 130103037 single base substitution A G intron_variant LICA-FR 11 130103127 130103127 single base substitution C G 3_prime_UTR_variant LICA-FR 11 130103127 130103127 single base substitution C G downstream_gene_variant LICA-FR 11 130103127 130103127 single base substitution C G intron_variant LICA-FR 11 130103613 130103613 single base substitution A G 3_prime_UTR_variant LICA-FR 11 130103613 130103613 single base substitution A G downstream_gene_variant LICA-FR 11 130103613 130103613 single base substitution A G intron_variant LICA-FR 11 130103722 130103722 single base substitution A G 3_prime_UTR_variant LICA-FR 11 130103722 130103722 single base substitution A G downstream_gene_variant LICA-FR 11 130103722 130103722 single base substitution A G intron_variant LICA-FR 11 130125120 130125122 deletion of <=200bp AAT - intron_variant LICA-FR 11 130130946 130130946 single base substitution T G exon_variant LICA-FR 11 130130946 130130946 single base substitution T G missense_variant T128P 382A>C LICA-FR 11 130130946 130130946 single base substitution T G missense_variant T21P 61A>C LICA-FR 11 130130946 130130946 single base substitution T G missense_variant T271P 811A>C LICA-FR 11 130130946 130130946 single base substitution T G missense_variant T275P 823A>C LICA-FR 11 130142434 130142434 single base substitution C A intron_variant LICA-FR 11 130149204 130149204 deletion of <=200bp A - intron_variant LICA-FR 11 130158295 130158295 single base substitution A T intron_variant LICA-FR 11 130185738 130185738 single base substitution C T upstream_gene_variant LICA-FR 11 130188449 130188449 single base substitution T C upstream_gene_variant LINC-JP 11 130104238 130104238 single base substitution A G downstream_gene_variant LINC-JP 11 130104238 130104238 single base substitution A G intron_variant LINC-JP 11 130108955 130108955 single base substitution T C exon_variant LINC-JP 11 130108955 130108955 single base substitution T C intron_variant LINC-JP 11 130108955 130108955 single base substitution T C upstream_gene_variant LINC-JP 11 130127155 130127155 single base substitution G A intron_variant LINC-JP 11 130139864 130139864 single base substitution T C intron_variant LINC-JP 11 130146142 130146142 single base substitution G A intron_variant LINC-JP 11 130146149 130146149 single base substitution G A intron_variant LINC-JP 11 130174600 130174600 single base substitution G T intron_variant LINC-JP 11 130185941 130185941 single base substitution G T upstream_gene_variant LINC-JP 11 130186860 130186860 single base substitution G T upstream_gene_variant LINC-JP 11 130189566 130189566 single base substitution G A upstream_gene_variant LIRI-JP 11 130092270 130092270 single base substitution G A downstream_gene_variant LIRI-JP 11 130094775 130094775 single base substitution T C downstream_gene_variant LIRI-JP 11 130097281 130097281 single base substitution G A 3_prime_UTR_variant LIRI-JP 11 130097281 130097281 single base substitution G A downstream_gene_variant LIRI-JP 11 130097638 130097638 single base substitution A G 3_prime_UTR_variant LIRI-JP 11 130097638 130097638 single base substitution A G downstream_gene_variant LIRI-JP 11 130102725 130102725 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 130102725 130102725 single base substitution T C downstream_gene_variant LIRI-JP 11 130102725 130102725 single base substitution T C intron_variant LIRI-JP 11 130105273 130105273 single base substitution T C downstream_gene_variant LIRI-JP 11 130105273 130105273 single base substitution T C intron_variant LIRI-JP 11 130106508 130106508 single base substitution G A downstream_gene_variant LIRI-JP 11 130106508 130106508 single base substitution G A intron_variant LIRI-JP 11 130107106 130107106 single base substitution C T downstream_gene_variant LIRI-JP 11 130107106 130107106 single base substitution C T intron_variant LIRI-JP 11 130108149 130108149 single base substitution T G downstream_gene_variant LIRI-JP 11 130108149 130108149 single base substitution T G intron_variant LIRI-JP 11 130117304 130117304 single base substitution A T intron_variant LIRI-JP 11 130119340 130119340 single base substitution C A intron_variant LIRI-JP 11 130122971 130122971 single base substitution A G intron_variant LIRI-JP 11 130124306 130124306 single base substitution G T intron_variant LIRI-JP 11 130128237 130128237 single base substitution T C intron_variant LIRI-JP 11 130132985 130132985 single base substitution T C intron_variant LIRI-JP 11 130132985 130132985 single base substitution T C upstream_gene_variant LIRI-JP 11 130133784 130133784 single base substitution T C intron_variant LIRI-JP 11 130133784 130133784 single base substitution T C upstream_gene_variant LIRI-JP 11 130136269 130136269 single base substitution T C intron_variant LIRI-JP 11 130136269 130136269 single base substitution T C upstream_gene_variant LIRI-JP 11 130136456 130136456 single base substitution T C intron_variant LIRI-JP 11 130136456 130136456 single base substitution T C upstream_gene_variant LIRI-JP 11 130139470 130139470 deletion of <=200bp A - intron_variant LIRI-JP 11 130140923 130140923 single base substitution G A intron_variant LIRI-JP 11 130142210 130142210 single base substitution G C intron_variant LIRI-JP 11 130143351 130143351 single base substitution T C intron_variant LIRI-JP 11 130144275 130144275 single base substitution G C intron_variant LIRI-JP 11 130149118 130149118 single base substitution G A intron_variant LIRI-JP 11 130150084 130150084 single base substitution C T intron_variant LIRI-JP 11 130152484 130152484 single base substitution A C intron_variant LIRI-JP 11 130160791 130160791 single base substitution T C intron_variant LIRI-JP 11 130160937 130160937 single base substitution T C intron_variant LIRI-JP 11 130164029 130164029 single base substitution C T intron_variant LIRI-JP 11 130165276 130165276 single base substitution C T intron_variant LIRI-JP 11 130167263 130167263 single base substitution T C intron_variant LIRI-JP 11 130172606 130172606 single base substitution C T intron_variant LIRI-JP 11 130177653 130177653 single base substitution A T intron_variant LIRI-JP 11 130177873 130177873 single base substitution C T intron_variant LIRI-JP 11 130179938 130179938 single base substitution T G intron_variant LIRI-JP 11 130180837 130180837 single base substitution C G intron_variant LIRI-JP 11 130187022 130187022 single base substitution T C upstream_gene_variant LUSC-KR 11 130103037 130103037 single base substitution A G 3_prime_UTR_variant LUSC-KR 11 130103037 130103037 single base substitution A G downstream_gene_variant LUSC-KR 11 130103037 130103037 single base substitution A G intron_variant LUSC-KR 11 130103127 130103127 single base substitution C G 3_prime_UTR_variant LUSC-KR 11 130103127 130103127 single base substitution C G downstream_gene_variant LUSC-KR 11 130103127 130103127 single base substitution C G intron_variant LUSC-KR 11 130103739 130103739 single base substitution G T 3_prime_UTR_variant LUSC-KR 11 130103739 130103739 single base substitution G T downstream_gene_variant LUSC-KR 11 130103739 130103739 single base substitution G T intron_variant LUSC-KR 11 130109955 130109955 single base substitution G T intron_variant LUSC-KR 11 130109955 130109955 single base substitution G T upstream_gene_variant LUSC-KR 11 130111264 130111264 single base substitution A C intron_variant LUSC-KR 11 130111264 130111264 single base substitution A C upstream_gene_variant LUSC-KR 11 130135004 130135004 single base substitution C G intron_variant LUSC-KR 11 130135004 130135004 single base substitution C G upstream_gene_variant LUSC-KR 11 130135490 130135490 single base substitution T C intron_variant LUSC-KR 11 130135490 130135490 single base substitution T C upstream_gene_variant LUSC-KR 11 130140035 130140035 single base substitution G A intron_variant LUSC-KR 11 130145558 130145558 single base substitution C G intron_variant LUSC-KR 11 130145724 130145724 single base substitution T C intron_variant LUSC-KR 11 130145802 130145802 single base substitution T A intron_variant LUSC-KR 11 130146303 130146303 single base substitution A T intron_variant LUSC-KR 11 130149472 130149472 single base substitution C T intron_variant LUSC-KR 11 130150621 130150621 single base substitution T C intron_variant LUSC-KR 11 130152160 130152160 single base substitution C G intron_variant LUSC-KR 11 130153586 130153586 single base substitution C G intron_variant LUSC-KR 11 130155204 130155204 single base substitution G T intron_variant LUSC-KR 11 130164502 130164502 single base substitution T C intron_variant LUSC-KR 11 130176898 130176898 single base substitution T C intron_variant LUSC-KR 11 130176923 130176923 single base substitution C A intron_variant LUSC-KR 11 130177062 130177062 single base substitution G C intron_variant LUSC-KR 11 130180036 130180036 single base substitution G A intron_variant LUSC-KR 11 130183819 130183819 single base substitution A G intron_variant LUSC-KR 11 130184735 130184735 single base substitution G A upstream_gene_variant LUSC-KR 11 130184747 130184747 single base substitution C A upstream_gene_variant LUSC-KR 11 130189453 130189453 single base substitution A C upstream_gene_variant LUSC-US 11 130106942 130106942 single base substitution C A downstream_gene_variant LUSC-US 11 130106942 130106942 single base substitution C A exon_variant LUSC-US 11 130106942 130106942 single base substitution C A missense_variant R167S 501G>T LUSC-US 11 130106942 130106942 single base substitution C A missense_variant R291S 873G>T LUSC-US 11 130106942 130106942 single base substitution C A missense_variant R416S 1248G>T LUSC-US 11 130106942 130106942 single base substitution C A missense_variant R438S 1314G>T MALY-DE 11 130122599 130122599 single base substitution C T intron_variant MALY-DE 11 130136074 130136074 single base substitution C T intron_variant MALY-DE 11 130136074 130136074 single base substitution C T upstream_gene_variant MALY-DE 11 130138207 130138207 single base substitution C T intron_variant MALY-DE 11 130138966 130138966 single base substitution A T intron_variant MALY-DE 11 130144170 130144170 single base substitution T G intron_variant MALY-DE 11 130149759 130149759 single base substitution T G intron_variant MALY-DE 11 130154169 130154169 single base substitution A G intron_variant MALY-DE 11 130165440 130165440 single base substitution C A intron_variant MALY-DE 11 130168351 130168359 deletion of <=200bp TTTTTTTTT - intron_variant MALY-DE 11 130168856 130168856 single base substitution T C intron_variant MALY-DE 11 130170230 130170231 deletion of <=200bp CA - intron_variant MALY-DE 11 130183861 130183861 single base substitution A T intron_variant MALY-DE 11 130186803 130186803 single base substitution A G upstream_gene_variant MELA-AU 11 130091662 130091662 single base substitution C T downstream_gene_variant MELA-AU 11 130092015 130092015 single base substitution A T downstream_gene_variant MELA-AU 11 130092029 130092029 single base substitution G A downstream_gene_variant MELA-AU 11 130092935 130092935 single base substitution A T downstream_gene_variant MELA-AU 11 130092970 130092970 single base substitution G A downstream_gene_variant MELA-AU 11 130093020 130093020 single base substitution A C downstream_gene_variant MELA-AU 11 130093379 130093379 single base substitution G A downstream_gene_variant MELA-AU 11 130093591 130093591 single base substitution G A downstream_gene_variant MELA-AU 11 130093900 130093900 single base substitution C T downstream_gene_variant MELA-AU 11 130094447 130094447 single base substitution G A downstream_gene_variant MELA-AU 11 130095468 130095468 single base substitution G A downstream_gene_variant MELA-AU 11 130095700 130095700 single base substitution C T downstream_gene_variant MELA-AU 11 130095922 130095922 single base substitution G A downstream_gene_variant MELA-AU 11 130095931 130095931 single base substitution G A downstream_gene_variant MELA-AU 11 130096746 130096746 single base substitution A T 3_prime_UTR_variant MELA-AU 11 130096746 130096746 single base substitution A T downstream_gene_variant MELA-AU 11 130097099 130097099 single base substitution A T 3_prime_UTR_variant MELA-AU 11 130097099 130097099 single base substitution A T downstream_gene_variant MELA-AU 11 130097101 130097101 single base substitution A C 3_prime_UTR_variant MELA-AU 11 130097101 130097101 single base substitution A C downstream_gene_variant MELA-AU 11 130097103 130097103 single base substitution A T 3_prime_UTR_variant MELA-AU 11 130097103 130097103 single base substitution A T downstream_gene_variant MELA-AU 11 130097381 130097381 single base substitution C A 3_prime_UTR_variant MELA-AU 11 130097381 130097381 single base substitution C A downstream_gene_variant MELA-AU 11 130097847 130097847 single base substitution A C 3_prime_UTR_variant MELA-AU 11 130097847 130097847 single base substitution A C downstream_gene_variant MELA-AU 11 130098571 130098571 single base substitution C T 3_prime_UTR_variant MELA-AU 11 130098571 130098571 single base substitution C T downstream_gene_variant MELA-AU 11 130098571 130098571 single base substitution C T intron_variant MELA-AU 11 130099471 130099471 single base substitution G A 3_prime_UTR_variant MELA-AU 11 130099471 130099471 single base substitution G A downstream_gene_variant MELA-AU 11 130099471 130099471 single base substitution G A intron_variant MELA-AU 11 130100767 130100767 single base substitution C G 3_prime_UTR_variant MELA-AU 11 130100767 130100767 single base substitution C G downstream_gene_variant MELA-AU 11 130100767 130100767 single base substitution C G intron_variant MELA-AU 11 130101625 130101625 single base substitution G A 3_prime_UTR_variant MELA-AU 11 130101625 130101625 single base substitution G A downstream_gene_variant MELA-AU 11 130101625 130101625 single base substitution G A intron_variant MELA-AU 11 130102005 130102005 single base substitution G A 3_prime_UTR_variant MELA-AU 11 130102005 130102005 single base substitution G A downstream_gene_variant MELA-AU 11 130102005 130102005 single base substitution G A intron_variant MELA-AU 11 130102397 130102398 multiple base substitution (>=2bp and <=200bp) GT AA 3_prime_UTR_variant MELA-AU 11 130102397 130102398 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 11 130102397 130102398 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 11 130102705 130102705 single base substitution G A 3_prime_UTR_variant MELA-AU 11 130102705 130102705 single base substitution G A downstream_gene_variant MELA-AU 11 130102705 130102705 single base substitution G A intron_variant MELA-AU 11 130103092 130103092 single base substitution C T 3_prime_UTR_variant MELA-AU 11 130103092 130103092 single base substitution C T downstream_gene_variant MELA-AU 11 130103092 130103092 single base substitution C T intron_variant MELA-AU 11 130103370 130103370 single base substitution G A 3_prime_UTR_variant MELA-AU 11 130103370 130103370 single base substitution G A downstream_gene_variant MELA-AU 11 130103370 130103370 single base substitution G A intron_variant MELA-AU 11 130104213 130104213 single base substitution C T downstream_gene_variant MELA-AU 11 130104213 130104213 single base substitution C T intron_variant MELA-AU 11 130106120 130106120 single base substitution C T downstream_gene_variant MELA-AU 11 130106120 130106120 single base substitution C T intron_variant MELA-AU 11 130106299 130106299 single base substitution G A downstream_gene_variant MELA-AU 11 130106299 130106299 single base substitution G A intron_variant MELA-AU 11 130106534 130106534 single base substitution G A downstream_gene_variant MELA-AU 11 130106534 130106534 single base substitution G A exon_variant MELA-AU 11 130106534 130106534 single base substitution G A intron_variant MELA-AU 11 130106813 130106813 single base substitution G A downstream_gene_variant MELA-AU 11 130106813 130106813 single base substitution G A exon_variant MELA-AU 11 130106813 130106813 single base substitution G A intron_variant MELA-AU 11 130106813 130106813 single base substitution G A synonymous_variant I459I 1377C>T MELA-AU 11 130106813 130106813 single base substitution G A synonymous_variant I481I 1443C>T MELA-AU 11 130106890 130106891 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 130106890 130106891 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 11 130106890 130106891 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 130106890 130106891 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant FR433FW MELA-AU 11 130106890 130106891 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant FR455FW MELA-AU 11 130107582 130107582 single base substitution G A downstream_gene_variant MELA-AU 11 130107582 130107582 single base substitution G A intron_variant MELA-AU 11 130110623 130110623 single base substitution C T intron_variant MELA-AU 11 130110623 130110623 single base substitution C T upstream_gene_variant MELA-AU 11 130112074 130112074 single base substitution A G intron_variant MELA-AU 11 130112074 130112074 single base substitution A G upstream_gene_variant MELA-AU 11 130112332 130112332 single base substitution G A intron_variant MELA-AU 11 130112332 130112332 single base substitution G A upstream_gene_variant MELA-AU 11 130112937 130112937 single base substitution C T intron_variant MELA-AU 11 130112937 130112937 single base substitution C T upstream_gene_variant MELA-AU 11 130113223 130113223 single base substitution G A intron_variant MELA-AU 11 130113223 130113223 single base substitution G A upstream_gene_variant MELA-AU 11 130113353 130113353 single base substitution C T intron_variant MELA-AU 11 130113353 130113353 single base substitution C T upstream_gene_variant MELA-AU 11 130113744 130113744 single base substitution G A intron_variant MELA-AU 11 130113796 130113796 single base substitution G A intron_variant MELA-AU 11 130113820 130113820 single base substitution A C intron_variant MELA-AU 11 130115030 130115030 single base substitution T A intron_variant MELA-AU 11 130115204 130115204 single base substitution G A intron_variant MELA-AU 11 130117273 130117273 single base substitution G A intron_variant MELA-AU 11 130117964 130117964 single base substitution T C intron_variant MELA-AU 11 130118079 130118079 single base substitution G A intron_variant MELA-AU 11 130118147 130118147 single base substitution G A intron_variant MELA-AU 11 130119343 130119343 single base substitution C T intron_variant MELA-AU 11 130119848 130119848 single base substitution G A intron_variant MELA-AU 11 130119986 130119986 single base substitution C T intron_variant MELA-AU 11 130120207 130120207 single base substitution G A intron_variant MELA-AU 11 130120292 130120292 single base substitution G A intron_variant MELA-AU 11 130121296 130121296 single base substitution A G intron_variant MELA-AU 11 130121328 130121328 single base substitution G A intron_variant MELA-AU 11 130121620 130121620 single base substitution G A intron_variant MELA-AU 11 130121661 130121661 single base substitution G A intron_variant MELA-AU 11 130121837 130121837 single base substitution G A intron_variant MELA-AU 11 130121934 130121934 single base substitution C A intron_variant MELA-AU 11 130121961 130121961 single base substitution G A intron_variant MELA-AU 11 130121990 130121990 single base substitution G A intron_variant MELA-AU 11 130122077 130122077 single base substitution G A intron_variant MELA-AU 11 130122222 130122222 single base substitution G A intron_variant MELA-AU 11 130122590 130122590 single base substitution G A intron_variant MELA-AU 11 130123154 130123154 single base substitution G A intron_variant MELA-AU 11 130124190 130124190 single base substitution G A intron_variant MELA-AU 11 130124743 130124743 single base substitution G A intron_variant MELA-AU 11 130124979 130124979 single base substitution G A intron_variant MELA-AU 11 130125214 130125214 single base substitution G A intron_variant MELA-AU 11 130125276 130125276 single base substitution G A intron_variant MELA-AU 11 130125518 130125518 single base substitution G A intron_variant MELA-AU 11 130125536 130125536 single base substitution G A intron_variant MELA-AU 11 130125600 130125600 single base substitution A C intron_variant MELA-AU 11 130126542 130126542 single base substitution C T intron_variant MELA-AU 11 130127447 130127447 single base substitution G A intron_variant MELA-AU 11 130127489 130127489 single base substitution C T intron_variant MELA-AU 11 130127922 130127922 single base substitution G A intron_variant MELA-AU 11 130128098 130128098 single base substitution A T intron_variant MELA-AU 11 130128389 130128389 single base substitution C G intron_variant MELA-AU 11 130129102 130129102 single base substitution G A intron_variant MELA-AU 11 130129134 130129134 single base substitution G A intron_variant MELA-AU 11 130129308 130129308 single base substitution G A intron_variant MELA-AU 11 130130136 130130136 single base substitution A T intron_variant MELA-AU 11 130130475 130130475 single base substitution G A intron_variant MELA-AU 11 130132639 130132639 single base substitution A T intron_variant MELA-AU 11 130132639 130132639 single base substitution A T upstream_gene_variant MELA-AU 11 130132667 130132668 deletion of <=200bp AG - intron_variant MELA-AU 11 130132667 130132668 deletion of <=200bp AG - upstream_gene_variant MELA-AU 11 130133610 130133610 single base substitution A G intron_variant MELA-AU 11 130133610 130133610 single base substitution A G upstream_gene_variant MELA-AU 11 130134323 130134323 single base substitution G A intron_variant MELA-AU 11 130134323 130134323 single base substitution G A upstream_gene_variant MELA-AU 11 130134935 130134935 single base substitution C T intron_variant MELA-AU 11 130134935 130134935 single base substitution C T upstream_gene_variant MELA-AU 11 130135340 130135340 single base substitution G A intron_variant MELA-AU 11 130135340 130135340 single base substitution G A upstream_gene_variant MELA-AU 11 130135513 130135513 single base substitution G A intron_variant MELA-AU 11 130135513 130135513 single base substitution G A upstream_gene_variant MELA-AU 11 130136846 130136846 single base substitution A G intron_variant MELA-AU 11 130137834 130137834 single base substitution G A intron_variant MELA-AU 11 130137838 130137838 single base substitution G T intron_variant MELA-AU 11 130138492 130138492 single base substitution G A intron_variant MELA-AU 11 130138945 130138945 single base substitution G A intron_variant MELA-AU 11 130139707 130139707 single base substitution G A intron_variant MELA-AU 11 130139940 130139940 single base substitution G A intron_variant MELA-AU 11 130140535 130140535 single base substitution G A intron_variant MELA-AU 11 130140558 130140558 single base substitution A T intron_variant MELA-AU 11 130140565 130140565 single base substitution G A intron_variant MELA-AU 11 130141808 130141808 single base substitution C A intron_variant MELA-AU 11 130142017 130142017 single base substitution C T intron_variant MELA-AU 11 130142019 130142019 single base substitution C T intron_variant MELA-AU 11 130142986 130142986 single base substitution G A intron_variant MELA-AU 11 130143312 130143312 single base substitution C T intron_variant MELA-AU 11 130144672 130144672 single base substitution G A intron_variant MELA-AU 11 130145264 130145264 single base substitution G A intron_variant MELA-AU 11 130145266 130145266 single base substitution G A intron_variant MELA-AU 11 130145392 130145392 single base substitution G A intron_variant MELA-AU 11 130145432 130145433 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 130145892 130145892 single base substitution C T intron_variant MELA-AU 11 130145950 130145950 single base substitution G C intron_variant MELA-AU 11 130146048 130146048 single base substitution G A intron_variant MELA-AU 11 130146225 130146225 single base substitution T G intron_variant MELA-AU 11 130146521 130146521 single base substitution G A intron_variant MELA-AU 11 130148569 130148569 single base substitution C T intron_variant MELA-AU 11 130148965 130148965 single base substitution C T intron_variant MELA-AU 11 130149329 130149329 single base substitution G A intron_variant MELA-AU 11 130149372 130149372 single base substitution G C intron_variant MELA-AU 11 130149946 130149946 single base substitution T A intron_variant MELA-AU 11 130150114 130150114 single base substitution C A intron_variant MELA-AU 11 130150164 130150164 single base substitution G A intron_variant MELA-AU 11 130151412 130151423 deletion of <=200bp AAATAAATAAAT - intron_variant MELA-AU 11 130151708 130151708 single base substitution G T intron_variant MELA-AU 11 130151769 130151769 single base substitution G A intron_variant MELA-AU 11 130151992 130151992 single base substitution C T intron_variant MELA-AU 11 130152228 130152228 single base substitution C T intron_variant MELA-AU 11 130152335 130152336 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 130152690 130152690 single base substitution G A intron_variant MELA-AU 11 130152697 130152697 single base substitution G A intron_variant MELA-AU 11 130153210 130153210 single base substitution G A intron_variant MELA-AU 11 130153559 130153559 single base substitution G A intron_variant MELA-AU 11 130154994 130154994 single base substitution G A intron_variant MELA-AU 11 130155017 130155017 single base substitution G A intron_variant MELA-AU 11 130155036 130155036 single base substitution G A intron_variant MELA-AU 11 130155415 130155415 single base substitution G A intron_variant MELA-AU 11 130156813 130156813 single base substitution G A intron_variant MELA-AU 11 130157431 130157431 single base substitution G A intron_variant MELA-AU 11 130157592 130157592 single base substitution G A intron_variant MELA-AU 11 130157643 130157643 single base substitution G A intron_variant MELA-AU 11 130158127 130158127 single base substitution G A intron_variant MELA-AU 11 130158360 130158360 single base substitution A G intron_variant MELA-AU 11 130158559 130158559 single base substitution G A intron_variant MELA-AU 11 130158563 130158563 single base substitution C A intron_variant MELA-AU 11 130158832 130158832 single base substitution G A intron_variant MELA-AU 11 130159169 130159169 single base substitution G A intron_variant MELA-AU 11 130159636 130159636 single base substitution G A intron_variant MELA-AU 11 130160185 130160185 single base substitution C T intron_variant MELA-AU 11 130160632 130160632 single base substitution G A intron_variant MELA-AU 11 130160940 130160940 single base substitution C T intron_variant MELA-AU 11 130161268 130161268 single base substitution G A intron_variant MELA-AU 11 130161358 130161358 single base substitution G A intron_variant MELA-AU 11 130161840 130161840 single base substitution C A intron_variant MELA-AU 11 130162492 130162492 single base substitution G A intron_variant MELA-AU 11 130162806 130162806 single base substitution G A intron_variant MELA-AU 11 130164203 130164203 single base substitution C T intron_variant MELA-AU 11 130165253 130165253 single base substitution G A intron_variant MELA-AU 11 130165353 130165353 single base substitution G A intron_variant MELA-AU 11 130165977 130165977 single base substitution G A intron_variant MELA-AU 11 130166219 130166219 single base substitution G A intron_variant MELA-AU 11 130167206 130167206 single base substitution T C intron_variant MELA-AU 11 130167394 130167394 single base substitution G A intron_variant MELA-AU 11 130167721 130167721 single base substitution T C intron_variant MELA-AU 11 130168758 130168758 single base substitution C T intron_variant MELA-AU 11 130168933 130168933 single base substitution G A intron_variant MELA-AU 11 130168965 130168965 single base substitution G A intron_variant MELA-AU 11 130169258 130169258 single base substitution G A intron_variant MELA-AU 11 130171074 130171074 single base substitution G A intron_variant MELA-AU 11 130172289 130172289 single base substitution G A intron_variant MELA-AU 11 130172325 130172325 single base substitution A T intron_variant MELA-AU 11 130172515 130172515 single base substitution G A intron_variant MELA-AU 11 130172686 130172687 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 130172727 130172727 single base substitution G A intron_variant MELA-AU 11 130172771 130172771 single base substitution G A intron_variant MELA-AU 11 130173291 130173291 single base substitution G A intron_variant MELA-AU 11 130173297 130173297 single base substitution G A intron_variant MELA-AU 11 130173627 130173627 single base substitution G A intron_variant MELA-AU 11 130174446 130174446 single base substitution G A intron_variant MELA-AU 11 130175461 130175461 single base substitution G A intron_variant MELA-AU 11 130175816 130175816 single base substitution C A intron_variant MELA-AU 11 130176583 130176583 single base substitution G A intron_variant MELA-AU 11 130176684 130176684 single base substitution G A intron_variant MELA-AU 11 130176758 130176758 single base substitution G A intron_variant MELA-AU 11 130178787 130178787 single base substitution G A intron_variant MELA-AU 11 130179368 130179368 single base substitution G A intron_variant MELA-AU 11 130179809 130179809 single base substitution T G intron_variant MELA-AU 11 130180222 130180222 single base substitution G A intron_variant MELA-AU 11 130180249 130180249 single base substitution G A intron_variant MELA-AU 11 130180977 130180977 single base substitution C A intron_variant MELA-AU 11 130180994 130180994 single base substitution G A intron_variant MELA-AU 11 130181070 130181070 single base substitution G A intron_variant MELA-AU 11 130181089 130181089 single base substitution G A intron_variant MELA-AU 11 130181884 130181884 single base substitution G A intron_variant MELA-AU 11 130182256 130182256 single base substitution A C intron_variant MELA-AU 11 130182377 130182377 single base substitution C T intron_variant MELA-AU 11 130183295 130183295 single base substitution G A intron_variant MELA-AU 11 130183819 130183819 single base substitution A G intron_variant MELA-AU 11 130183863 130183863 single base substitution T A intron_variant MELA-AU 11 130183916 130183916 single base substitution G A intron_variant MELA-AU 11 130184133 130184133 single base substitution T C intron_variant MELA-AU 11 130185012 130185012 single base substitution T A upstream_gene_variant MELA-AU 11 130185627 130185627 single base substitution C T upstream_gene_variant MELA-AU 11 130185906 130185906 single base substitution G A upstream_gene_variant MELA-AU 11 130186238 130186238 single base substitution G A upstream_gene_variant MELA-AU 11 130186592 130186592 single base substitution C T upstream_gene_variant MELA-AU 11 130186722 130186722 single base substitution G A upstream_gene_variant MELA-AU 11 130187097 130187097 single base substitution C T upstream_gene_variant MELA-AU 11 130187287 130187287 single base substitution G C upstream_gene_variant MELA-AU 11 130187372 130187372 single base substitution C T upstream_gene_variant MELA-AU 11 130187792 130187793 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 130188141 130188141 single base substitution C T upstream_gene_variant MELA-AU 11 130188434 130188434 single base substitution C T upstream_gene_variant MELA-AU 11 130188577 130188577 single base substitution C T upstream_gene_variant MELA-AU 11 130188618 130188618 single base substitution A T upstream_gene_variant MELA-AU 11 130188658 130188658 single base substitution T C upstream_gene_variant MELA-AU 11 130188670 130188670 single base substitution C T upstream_gene_variant MELA-AU 11 130188847 130188847 single base substitution C T upstream_gene_variant MELA-AU 11 130189182 130189182 single base substitution C T upstream_gene_variant MELA-AU 11 130189303 130189303 single base substitution C T upstream_gene_variant MELA-AU 11 130189414 130189414 single base substitution C T upstream_gene_variant ORCA-IN 11 130121232 130121232 single base substitution G T intron_variant ORCA-IN 11 130131687 130131687 single base substitution C A exon_variant ORCA-IN 11 130131687 130131687 single base substitution C A stop_gained G24* 70G>T ORCA-IN 11 130131687 130131687 single base substitution C A stop_gained G28* 82G>T ORCA-IN 11 130131687 130131687 single base substitution C A upstream_gene_variant ORCA-IN 11 130134718 130134718 single base substitution G A intron_variant ORCA-IN 11 130134718 130134718 single base substitution G A upstream_gene_variant OV-AU 11 130093121 130093121 single base substitution G C downstream_gene_variant OV-AU 11 130096745 130096745 single base substitution T A 3_prime_UTR_variant OV-AU 11 130096745 130096745 single base substitution T A downstream_gene_variant OV-AU 11 130096746 130096746 single base substitution A T 3_prime_UTR_variant OV-AU 11 130096746 130096746 single base substitution A T downstream_gene_variant OV-AU 11 130101194 130101194 single base substitution C T 3_prime_UTR_variant OV-AU 11 130101194 130101194 single base substitution C T downstream_gene_variant OV-AU 11 130101194 130101194 single base substitution C T intron_variant OV-AU 11 130103303 130103303 single base substitution C G 3_prime_UTR_variant OV-AU 11 130103303 130103303 single base substitution C G downstream_gene_variant OV-AU 11 130103303 130103303 single base substitution C G intron_variant OV-AU 11 130112629 130112629 single base substitution T C intron_variant OV-AU 11 130112629 130112629 single base substitution T C upstream_gene_variant OV-AU 11 130112826 130112826 single base substitution T C intron_variant OV-AU 11 130112826 130112826 single base substitution T C upstream_gene_variant OV-AU 11 130118116 130118116 single base substitution C G intron_variant OV-AU 11 130129469 130129469 single base substitution T C intron_variant OV-AU 11 130152410 130152410 single base substitution C T intron_variant OV-AU 11 130153981 130153981 single base substitution C G intron_variant OV-AU 11 130161960 130161960 single base substitution C T intron_variant OV-AU 11 130178793 130178793 single base substitution G T intron_variant OV-AU 11 130189262 130189262 single base substitution C G upstream_gene_variant PACA-AU 11 130094128 130094128 single base substitution G A downstream_gene_variant PACA-AU 11 130101114 130101114 single base substitution C G 3_prime_UTR_variant PACA-AU 11 130101114 130101114 single base substitution C G downstream_gene_variant PACA-AU 11 130101114 130101114 single base substitution C G intron_variant PACA-AU 11 130102911 130102911 single base substitution A G 3_prime_UTR_variant PACA-AU 11 130102911 130102911 single base substitution A G downstream_gene_variant PACA-AU 11 130102911 130102911 single base substitution A G intron_variant PACA-AU 11 130115219 130115219 single base substitution A T intron_variant PACA-AU 11 130116195 130116195 single base substitution C T intron_variant PACA-AU 11 130124705 130124705 single base substitution G C intron_variant PACA-AU 11 130126063 130126063 single base substitution G C intron_variant PACA-AU 11 130132644 130132644 single base substitution A G intron_variant PACA-AU 11 130132644 130132644 single base substitution A G upstream_gene_variant PACA-AU 11 130137888 130137888 single base substitution C T intron_variant PACA-AU 11 130144920 130144920 single base substitution C G intron_variant PACA-AU 11 130148678 130148678 single base substitution T C intron_variant PACA-AU 11 130154917 130154917 single base substitution A G intron_variant PACA-AU 11 130167457 130167457 insertion of <=200bp - A intron_variant PACA-AU 11 130167937 130167937 single base substitution G T intron_variant PACA-AU 11 130167963 130167963 single base substitution G T intron_variant PACA-AU 11 130168490 130168490 single base substitution T C intron_variant PACA-AU 11 130169165 130169165 deletion of <=200bp A - intron_variant PACA-AU 11 130181568 130181568 single base substitution C T intron_variant PACA-AU 11 130185819 130185819 single base substitution A G upstream_gene_variant PACA-AU 11 130187674 130187674 single base substitution G C upstream_gene_variant PACA-CA 11 130091701 130091701 single base substitution G A downstream_gene_variant PACA-CA 11 130105477 130105477 single base substitution G A downstream_gene_variant PACA-CA 11 130105477 130105477 single base substitution G A intron_variant PACA-CA 11 130108701 130108701 single base substitution A T downstream_gene_variant PACA-CA 11 130108701 130108701 single base substitution A T intron_variant PACA-CA 11 130108701 130108701 single base substitution A T upstream_gene_variant PACA-CA 11 130110908 130110908 single base substitution C A intron_variant PACA-CA 11 130110908 130110908 single base substitution C A upstream_gene_variant PACA-CA 11 130113140 130113140 single base substitution C G intron_variant PACA-CA 11 130113140 130113140 single base substitution C G upstream_gene_variant PACA-CA 11 130114479 130114479 single base substitution G A intron_variant PACA-CA 11 130116419 130116419 single base substitution C T intron_variant PACA-CA 11 130116528 130116538 deletion of <=200bp AAAGCAATTAC - intron_variant PACA-CA 11 130117637 130117637 single base substitution A T intron_variant PACA-CA 11 130122540 130122540 single base substitution G A intron_variant PACA-CA 11 130122715 130122715 single base substitution T G intron_variant PACA-CA 11 130123213 130123213 single base substitution C T intron_variant PACA-CA 11 130127356 130127356 single base substitution G A intron_variant PACA-CA 11 130131695 130131695 single base substitution C T exon_variant PACA-CA 11 130131695 130131695 single base substitution C T missense_variant R21Q 62G>A PACA-CA 11 130131695 130131695 single base substitution C T missense_variant R25Q 74G>A PACA-CA 11 130131695 130131695 single base substitution C T upstream_gene_variant PACA-CA 11 130135240 130135240 single base substitution T G intron_variant PACA-CA 11 130135240 130135240 single base substitution T G upstream_gene_variant PACA-CA 11 130140535 130140535 single base substitution G A intron_variant PACA-CA 11 130141463 130141463 single base substitution C T intron_variant PACA-CA 11 130146619 130146619 single base substitution C T intron_variant PACA-CA 11 130151451 130151451 single base substitution T C intron_variant PACA-CA 11 130153386 130153386 single base substitution G A intron_variant PACA-CA 11 130154709 130154709 single base substitution T C intron_variant PACA-CA 11 130156950 130156950 single base substitution G C intron_variant PACA-CA 11 130157659 130157659 single base substitution C T intron_variant PACA-CA 11 130159106 130159106 single base substitution G A intron_variant PACA-CA 11 130164223 130164223 single base substitution C T intron_variant PACA-CA 11 130172807 130172807 single base substitution T C intron_variant PACA-CA 11 130173404 130173404 single base substitution C T intron_variant PACA-CA 11 130173575 130173575 single base substitution C T intron_variant PAEN-AU 11 130127061 130127061 single base substitution T C intron_variant PAEN-AU 11 130140010 130140010 single base substitution A C intron_variant PAEN-AU 11 130159637 130159637 single base substitution G C intron_variant PAEN-AU 11 130188069 130188069 single base substitution G A upstream_gene_variant PAEN-IT 11 130116179 130116179 single base substitution C G intron_variant PAEN-IT 11 130128459 130128459 single base substitution C A intron_variant PAEN-IT 11 130130855 130130855 single base substitution T C exon_variant PAEN-IT 11 130130855 130130855 single base substitution T C missense_variant Q158R 473A>G PAEN-IT 11 130130855 130130855 single base substitution T C missense_variant Q301R 902A>G PAEN-IT 11 130130855 130130855 single base substitution T C missense_variant Q305R 914A>G PAEN-IT 11 130130855 130130855 single base substitution T C missense_variant Q51R 152A>G PAEN-IT 11 130158400 130158400 single base substitution G T intron_variant PAEN-IT 11 130172807 130172807 single base substitution T G intron_variant PBCA-DE 11 130094579 130094579 insertion of <=200bp - A downstream_gene_variant PBCA-DE 11 130115092 130115092 single base substitution T A intron_variant PBCA-DE 11 130132184 130132184 single base substitution G A intron_variant PBCA-DE 11 130132184 130132184 single base substitution G A upstream_gene_variant PBCA-DE 11 130141009 130141009 single base substitution A T intron_variant PBCA-DE 11 130147564 130147564 insertion of <=200bp - T intron_variant PBCA-DE 11 130153864 130153872 deletion of <=200bp CAAAAAAAA - intron_variant PBCA-DE 11 130156418 130156418 single base substitution G A intron_variant PBCA-DE 11 130156953 130156953 single base substitution C T intron_variant PBCA-DE 11 130159300 130159300 insertion of <=200bp - C intron_variant PBCA-DE 11 130159331 130159331 insertion of <=200bp - TGC intron_variant PBCA-DE 11 130170635 130170635 single base substitution A G intron_variant PBCA-DE 11 130185049 130185049 insertion of <=200bp - TT upstream_gene_variant PBCA-DE 11 130185058 130185058 insertion of <=200bp - ATA upstream_gene_variant PBCA-DE 11 130185314 130185314 single base substitution A C upstream_gene_variant PBCA-DE 11 130187372 130187372 single base substitution C T upstream_gene_variant PBCA-DE 11 130188769 130188769 deletion of <=200bp C - upstream_gene_variant PRAD-CA 11 130099405 130099405 single base substitution T G 3_prime_UTR_variant PRAD-CA 11 130099405 130099405 single base substitution T G downstream_gene_variant PRAD-CA 11 130099405 130099405 single base substitution T G intron_variant PRAD-CA 11 130103127 130103127 single base substitution C G 3_prime_UTR_variant PRAD-CA 11 130103127 130103127 single base substitution C G downstream_gene_variant PRAD-CA 11 130103127 130103127 single base substitution C G intron_variant PRAD-CA 11 130122141 130122141 single base substitution C T intron_variant PRAD-UK 11 130091601 130091601 single base substitution G A downstream_gene_variant PRAD-UK 11 130126551 130126551 insertion of <=200bp - AAATAAATAAATAAATAAAT intron_variant PRAD-UK 11 130127470 130127470 single base substitution C T intron_variant PRAD-UK 11 130138563 130138563 single base substitution T G intron_variant PRAD-UK 11 130140871 130140871 single base substitution T C intron_variant PRAD-UK 11 130147747 130147747 single base substitution T G intron_variant PRAD-UK 11 130156899 130156899 single base substitution T A intron_variant PRAD-UK 11 130159232 130159232 single base substitution G A intron_variant PRAD-UK 11 130179188 130179188 single base substitution G A intron_variant PRAD-UK 11 130184358 130184358 single base substitution C A 5_prime_UTR_variant PRAD-UK 11 130189382 130189382 single base substitution C G upstream_gene_variant PRAD-US 11 130130970 130130970 single base substitution C G exon_variant PRAD-US 11 130130970 130130970 single base substitution C G missense_variant A120P 358G>C PRAD-US 11 130130970 130130970 single base substitution C G missense_variant A13P 37G>C PRAD-US 11 130130970 130130970 single base substitution C G missense_variant A263P 787G>C PRAD-US 11 130130970 130130970 single base substitution C G missense_variant A267P 799G>C READ-US 11 130131531 130131531 single base substitution T C exon_variant READ-US 11 130131531 130131531 single base substitution T C missense_variant T76A 226A>G READ-US 11 130131531 130131531 single base substitution T C missense_variant T80A 238A>G READ-US 11 130131531 130131531 single base substitution T C upstream_gene_variant RECA-EU 11 130092715 130092715 single base substitution C A downstream_gene_variant RECA-EU 11 130094919 130094919 single base substitution A G downstream_gene_variant RECA-EU 11 130096176 130096176 single base substitution T A downstream_gene_variant RECA-EU 11 130096177 130096177 single base substitution T A downstream_gene_variant RECA-EU 11 130104775 130104775 single base substitution G T downstream_gene_variant RECA-EU 11 130104775 130104775 single base substitution G T intron_variant RECA-EU 11 130111995 130111995 single base substitution T A intron_variant RECA-EU 11 130111995 130111995 single base substitution T A upstream_gene_variant RECA-EU 11 130115058 130115058 single base substitution T C intron_variant RECA-EU 11 130123269 130123269 single base substitution T C intron_variant RECA-EU 11 130146137 130146137 single base substitution A G intron_variant RECA-EU 11 130149049 130149049 single base substitution C T intron_variant RECA-EU 11 130150284 130150284 single base substitution A G intron_variant RECA-EU 11 130150291 130150291 single base substitution C A intron_variant RECA-EU 11 130183486 130183486 single base substitution A T intron_variant RECA-EU 11 130186257 130186257 single base substitution C T upstream_gene_variant SKCA-BR 11 130091848 130091848 single base substitution C T downstream_gene_variant SKCA-BR 11 130093548 130093548 single base substitution C T downstream_gene_variant SKCA-BR 11 130094199 130094199 single base substitution G A downstream_gene_variant SKCA-BR 11 130099472 130099472 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 130099472 130099472 single base substitution G A downstream_gene_variant SKCA-BR 11 130099472 130099472 single base substitution G A intron_variant SKCA-BR 11 130100308 130100308 insertion of <=200bp - GT 3_prime_UTR_variant SKCA-BR 11 130100308 130100308 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 11 130100308 130100308 insertion of <=200bp - GT intron_variant SKCA-BR 11 130102757 130102757 single base substitution G T 3_prime_UTR_variant SKCA-BR 11 130102757 130102757 single base substitution G T downstream_gene_variant SKCA-BR 11 130102757 130102757 single base substitution G T intron_variant SKCA-BR 11 130103224 130103224 single base substitution T C 3_prime_UTR_variant SKCA-BR 11 130103224 130103224 single base substitution T C downstream_gene_variant SKCA-BR 11 130103224 130103224 single base substitution T C missense_variant M322V 964A>G SKCA-BR 11 130103224 130103224 single base substitution T C missense_variant M469V 1405A>G SKCA-BR 11 130103780 130103780 single base substitution T C 3_prime_UTR_variant SKCA-BR 11 130103780 130103780 single base substitution T C downstream_gene_variant SKCA-BR 11 130103780 130103780 single base substitution T C intron_variant SKCA-BR 11 130103784 130103784 single base substitution T C 3_prime_UTR_variant SKCA-BR 11 130103784 130103784 single base substitution T C downstream_gene_variant SKCA-BR 11 130103784 130103784 single base substitution T C intron_variant SKCA-BR 11 130104507 130104507 single base substitution C T downstream_gene_variant SKCA-BR 11 130104507 130104507 single base substitution C T intron_variant SKCA-BR 11 130104510 130104510 single base substitution C T downstream_gene_variant SKCA-BR 11 130104510 130104510 single base substitution C T intron_variant SKCA-BR 11 130104536 130104536 single base substitution C G downstream_gene_variant SKCA-BR 11 130104536 130104536 single base substitution C G intron_variant SKCA-BR 11 130104646 130104646 single base substitution C G downstream_gene_variant SKCA-BR 11 130104646 130104646 single base substitution C G intron_variant SKCA-BR 11 130104852 130104852 single base substitution G A downstream_gene_variant SKCA-BR 11 130104852 130104852 single base substitution G A intron_variant SKCA-BR 11 130105204 130105204 single base substitution G A downstream_gene_variant SKCA-BR 11 130105204 130105204 single base substitution G A intron_variant SKCA-BR 11 130109936 130109936 insertion of <=200bp - ATT intron_variant SKCA-BR 11 130109936 130109936 insertion of <=200bp - ATT upstream_gene_variant SKCA-BR 11 130110531 130110531 single base substitution G A intron_variant SKCA-BR 11 130110531 130110531 single base substitution G A upstream_gene_variant SKCA-BR 11 130114562 130114563 deletion of <=200bp GA - intron_variant SKCA-BR 11 130114577 130114582 deletion of <=200bp AAAAAG - intron_variant SKCA-BR 11 130114813 130114813 single base substitution A G intron_variant SKCA-BR 11 130119639 130119639 single base substitution C T intron_variant SKCA-BR 11 130119972 130119972 single base substitution C G intron_variant SKCA-BR 11 130119978 130119978 single base substitution A G intron_variant SKCA-BR 11 130120544 130120544 single base substitution G A intron_variant SKCA-BR 11 130122097 130122097 single base substitution G A intron_variant SKCA-BR 11 130124534 130124534 single base substitution G A intron_variant SKCA-BR 11 130126998 130126998 single base substitution C A intron_variant SKCA-BR 11 130127751 130127751 single base substitution G A intron_variant SKCA-BR 11 130131278 130131278 single base substitution G A exon_variant SKCA-BR 11 130131278 130131278 single base substitution G A missense_variant S160F 479C>T SKCA-BR 11 130131278 130131278 single base substitution G A missense_variant S164F 491C>T SKCA-BR 11 130131278 130131278 single base substitution G A missense_variant S17F 50C>T SKCA-BR 11 130131278 130131278 single base substitution G A upstream_gene_variant SKCA-BR 11 130131498 130131498 single base substitution T G exon_variant SKCA-BR 11 130131498 130131498 single base substitution T G missense_variant T87P 259A>C SKCA-BR 11 130131498 130131498 single base substitution T G missense_variant T91P 271A>C SKCA-BR 11 130131498 130131498 single base substitution T G upstream_gene_variant SKCA-BR 11 130131526 130131526 single base substitution G A exon_variant SKCA-BR 11 130131526 130131526 single base substitution G A synonymous_variant G77G 231C>T SKCA-BR 11 130131526 130131526 single base substitution G A synonymous_variant G81G 243C>T SKCA-BR 11 130131526 130131526 single base substitution G A upstream_gene_variant SKCA-BR 11 130133092 130133092 single base substitution T C intron_variant SKCA-BR 11 130133092 130133092 single base substitution T C upstream_gene_variant SKCA-BR 11 130139242 130139242 single base substitution G C intron_variant SKCA-BR 11 130140241 130140241 single base substitution A T intron_variant SKCA-BR 11 130146127 130146127 insertion of <=200bp - CAAAAAAAAAAAA intron_variant SKCA-BR 11 130146239 130146240 deletion of <=200bp TG - intron_variant SKCA-BR 11 130148617 130148617 single base substitution G A intron_variant SKCA-BR 11 130163628 130163628 single base substitution T G intron_variant SKCA-BR 11 130177864 130177864 single base substitution A C intron_variant SKCA-BR 11 130182688 130182688 single base substitution G A intron_variant SKCA-BR 11 130184366 130184366 single base substitution A G 5_prime_UTR_variant SKCA-BR 11 130186701 130186701 single base substitution G A upstream_gene_variant SKCA-BR 11 130188846 130188846 single base substitution C T upstream_gene_variant SKCA-BR 11 130189384 130189384 insertion of <=200bp - CCT upstream_gene_variant SKCM-US 11 130106988 130106988 single base substitution C T downstream_gene_variant SKCM-US 11 130106988 130106988 single base substitution C T missense_variant G152E 455G>A SKCM-US 11 130106988 130106988 single base substitution C T missense_variant G276E 827G>A SKCM-US 11 130106988 130106988 single base substitution C T missense_variant G401E 1202G>A SKCM-US 11 130106988 130106988 single base substitution C T missense_variant G423E 1268G>A SKCM-US 11 130106988 130106988 single base substitution C T splice_region_variant SKCM-US 11 130108498 130108498 single base substitution C T downstream_gene_variant SKCM-US 11 130108498 130108498 single base substitution C T exon_variant SKCM-US 11 130108498 130108498 single base substitution C T intron_variant SKCM-US 11 130108498 130108498 single base substitution C T missense_variant E223K 667G>A SKCM-US 11 130108498 130108498 single base substitution C T missense_variant E370K 1108G>A SKCM-US 11 130108498 130108498 single base substitution C T upstream_gene_variant SKCM-US 11 130130907 130130907 single base substitution G A exon_variant SKCM-US 11 130130907 130130907 single base substitution G A missense_variant R141W 421C>T SKCM-US 11 130130907 130130907 single base substitution G A missense_variant R284W 850C>T SKCM-US 11 130130907 130130907 single base substitution G A missense_variant R288W 862C>T SKCM-US 11 130130907 130130907 single base substitution G A missense_variant R34W 100C>T SKCM-US 11 130130909 130130909 single base substitution A G exon_variant SKCM-US 11 130130909 130130909 single base substitution A G missense_variant V140A 419T>C SKCM-US 11 130130909 130130909 single base substitution A G missense_variant V283A 848T>C SKCM-US 11 130130909 130130909 single base substitution A G missense_variant V287A 860T>C SKCM-US 11 130130909 130130909 single base substitution A G missense_variant V33A 98T>C SKCM-US 11 130131072 130131072 single base substitution G A exon_variant SKCM-US 11 130131072 130131072 single base substitution G A missense_variant P229S 685C>T SKCM-US 11 130131072 130131072 single base substitution G A missense_variant P233S 697C>T SKCM-US 11 130131072 130131072 single base substitution G A missense_variant P86S 256C>T SKCM-US 11 130131072 130131072 single base substitution G A upstream_gene_variant SKCM-US 11 130131285 130131285 single base substitution G A exon_variant SKCM-US 11 130131285 130131285 single base substitution G A missense_variant P158S 472C>T SKCM-US 11 130131285 130131285 single base substitution G A missense_variant P15S 43C>T SKCM-US 11 130131285 130131285 single base substitution G A missense_variant P162S 484C>T SKCM-US 11 130131285 130131285 single base substitution G A upstream_gene_variant SKCM-US 11 130131663 130131663 single base substitution G A exon_variant SKCM-US 11 130131663 130131663 single base substitution G A missense_variant R32C 94C>T SKCM-US 11 130131663 130131663 single base substitution G A missense_variant R36C 106C>T SKCM-US 11 130131663 130131663 single base substitution G A upstream_gene_variant STAD-US 11 130108387 130108387 single base substitution G A downstream_gene_variant STAD-US 11 130108387 130108387 single base substitution G A exon_variant STAD-US 11 130108387 130108387 single base substitution G A stop_gained R136* 406C>T STAD-US 11 130108387 130108387 single base substitution G A stop_gained R260* 778C>T STAD-US 11 130108387 130108387 single base substitution G A stop_gained R385* 1153C>T STAD-US 11 130108387 130108387 single base substitution G A stop_gained R407* 1219C>T STAD-US 11 130109742 130109742 single base substitution C T exon_variant STAD-US 11 130109742 130109742 single base substitution C T synonymous_variant T102T 306G>A STAD-US 11 130109742 130109742 single base substitution C T synonymous_variant T209T 627G>A STAD-US 11 130109742 130109742 single base substitution C T synonymous_variant T352T 1056G>A STAD-US 11 130109742 130109742 single base substitution C T synonymous_variant T356T 1068G>A STAD-US 11 130109742 130109742 single base substitution C T upstream_gene_variant STAD-US 11 130131610 130131610 single base substitution A C exon_variant STAD-US 11 130131610 130131610 single base substitution A C missense_variant S49R 147T>G STAD-US 11 130131610 130131610 single base substitution A C missense_variant S53R 159T>G STAD-US 11 130131610 130131610 single base substitution A C upstream_gene_variant UCEC-US 11 130106776 130106776 single base substitution C T downstream_gene_variant UCEC-US 11 130106776 130106776 single base substitution C T exon_variant UCEC-US 11 130106776 130106776 single base substitution C T intron_variant UCEC-US 11 130106776 130106776 single base substitution C T missense_variant A472T 1414G>A UCEC-US 11 130106776 130106776 single base substitution C T missense_variant A494T 1480G>A UCEC-US 11 130106794 130106794 single base substitution C T downstream_gene_variant UCEC-US 11 130106794 130106794 single base substitution C T exon_variant UCEC-US 11 130106794 130106794 single base substitution C T intron_variant UCEC-US 11 130106794 130106794 single base substitution C T missense_variant E466K 1396G>A UCEC-US 11 130106794 130106794 single base substitution C T missense_variant E488K 1462G>A UCEC-US 11 130108442 130108442 single base substitution C A downstream_gene_variant UCEC-US 11 130108442 130108442 single base substitution C A exon_variant UCEC-US 11 130108442 130108442 single base substitution C A missense_variant E117D 351G>T UCEC-US 11 130108442 130108442 single base substitution C A missense_variant E241D 723G>T UCEC-US 11 130108442 130108442 single base substitution C A missense_variant E366D 1098G>T UCEC-US 11 130108442 130108442 single base substitution C A missense_variant E388D 1164G>T UCEC-US 11 130130859 130130859 single base substitution A G exon_variant UCEC-US 11 130130859 130130859 single base substitution A G missense_variant S157P 469T>C UCEC-US 11 130130859 130130859 single base substitution A G missense_variant S300P 898T>C UCEC-US 11 130130859 130130859 single base substitution A G missense_variant S304P 910T>C UCEC-US 11 130130859 130130859 single base substitution A G missense_variant S50P 148T>C UCEC-US 11 130131140 130131140 single base substitution G T exon_variant UCEC-US 11 130131140 130131140 single base substitution G T missense_variant S206Y 617C>A UCEC-US 11 130131140 130131140 single base substitution G T missense_variant S210Y 629C>A UCEC-US 11 130131140 130131140 single base substitution G T missense_variant S63Y 188C>A UCEC-US 11 130131140 130131140 single base substitution G T upstream_gene_variant UCEC-US 11 130131287 130131287 single base substitution G T exon_variant UCEC-US 11 130131287 130131287 single base substitution G T missense_variant S14Y 41C>A UCEC-US 11 130131287 130131287 single base substitution G T missense_variant S157Y 470C>A UCEC-US 11 130131287 130131287 single base substitution G T missense_variant S161Y 482C>A UCEC-US 11 130131287 130131287 single base substitution G T upstream_gene_variant UCEC-US 11 130131405 130131405 single base substitution C T exon_variant UCEC-US 11 130131405 130131405 single base substitution C T missense_variant E118K 352G>A UCEC-US 11 130131405 130131405 single base substitution C T missense_variant E122K 364G>A UCEC-US 11 130131405 130131405 single base substitution C T upstream_gene_variant UCEC-US 11 130131416 130131416 single base substitution C A exon_variant UCEC-US 11 130131416 130131416 single base substitution C A missense_variant S114I 341G>T UCEC-US 11 130131416 130131416 single base substitution C A missense_variant S118I 353G>T UCEC-US 11 130131416 130131416 single base substitution C A upstream_gene_variant UCEC-US 11 130131604 130131604 single base substitution G T exon_variant UCEC-US 11 130131604 130131604 single base substitution G T missense_variant F51L 153C>A UCEC-US 11 130131604 130131604 single base substitution G T missense_variant F55L 165C>A UCEC-US 11 130131604 130131604 single base substitution G T upstream_gene_variant UCEC-US 11 130131748 130131748 single base substitution A T exon_variant UCEC-US 11 130131748 130131748 single base substitution A T synonymous_variant T3T 9T>A UCEC-US 11 130131748 130131748 single base substitution A T synonymous_variant T7T 21T>A UCEC-US 11 130131748 130131748 single base substitution A T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-63-5131-01 COSM687258 c.1314G>T p.R438S Substitution - Missense 11:130237047-130237047 - YUKAT COSM5372053 c.721C>T p.Q241* Substitution - Nonsense 11:130261153-130261153 - PD4005a COSM219295 c.1162G>C p.E388Q Substitution - Missense 11:130238549-130238549 - PD6345a COSM1636851 c.579A>C p.E193D Substitution - Missense 11:130261295-130261295 - STC246 COSM5050676 c.343A>G p.S115G Substitution - Missense 11:130261531-130261531 - 3844_T COSM3979375 c.850G>A p.E284K Substitution - Missense 11:130261024-130261024 - TCGA-B5-A11E-01 COSM924983 c.353G>T p.S118I Substitution - Missense 11:130261521-130261521 - CSCC-47-T COSM4499410 c.541C>A p.R181R Substitution - coding silent 11:130261333-130261333 - TCGA-GF-A6C9-06 COSM4900998 c.484C>T p.P162S Substitution - Missense 11:130261390-130261390 - TCGA-CM-4746-01 COSM5156745 c.787G>A p.G263S Substitution - Missense 11:130261087-130261087 - TCGA-A8-A0A6-01 COSM3808798 c.866T>G p.V289G Substitution - Missense 11:130261008-130261008 - TCGA-CA-6718-01 COSM1352593 c.1198C>A p.Q400K Substitution - Missense 11:130238513-130238513 - TCGA-B0-5106-01 COSM466572 c.726T>A p.P242P Substitution - coding silent 11:130261148-130261148 - TCGA-GF-A3OT-06 COSM3445326 c.1108G>A p.E370K Substitution - Missense 11:130238603-130238603 - TCGA-AP-A051-01 COSM924980 c.629C>A p.S210Y Substitution - Missense 11:130261245-130261245 - TCGA-AA-3715-01 COSM270577 c.112C>T p.Q38* Substitution - Nonsense 11:130261762-130261762 - TCGA-BS-A0UF-01 COSM924981 c.482C>A p.S161Y Substitution - Missense 11:130261392-130261392 - TCGA-EE-A3J5-06 COSM1270724 c.106C>T p.R36C Substitution - Missense 11:130261768-130261768 - ESO-191 COSM1270724 c.106C>T p.R36C Substitution - Missense 11:130261768-130261768 - TCGA-AA-3492-01 COSM1352595 c.107G>A p.R36H Substitution - Missense 11:130261767-130261767 - PR-01-2554 COSM248414 c.712C>A p.R238R Substitution - coding silent 11:130261162-130261162 - T2417 COSM4742179 c.676T>G p.L226V Substitution - Missense 11:130261198-130261198 - PT41 COSM5924556 c.800C>T p.A267V Substitution - Missense 11:130261074-130261074 - 3N09-VS-3T09 COSM4979165 c.1245G>C p.K415N Substitution - Missense 11:130238466-130238466 - TCGA-32-2634-01 COSM3397564 c.918T>A p.P306P Substitution - coding silent 11:130260956-130260956 - TCGA-EE-A3JI-06 COSM3445324 c.1268G>A p.G423E Substitution - Missense 11:130237093-130237093 - KPOPBR-03-T COSM5964855 c.931C>T p.Q311* Substitution - Nonsense 11:130260943-130260943 - TCGA-CZ-5466-01 COSM466571 c.761T>A p.L254* Substitution - Nonsense 11:130261113-130261113 - TCGA-BR-8589-01 COSM4019346 c.159T>G p.S53R Substitution - Missense 11:130261715-130261715 - PR-0415 COSM242676 c.910T>G p.S304A Substitution - Missense 11:130260964-130260964 - H650 COSM1194700 c.832A>T p.T278S Substitution - Missense 11:130261042-130261042 - TCGA-F5-6814-01 COSM3415688 c.238A>G p.T80A Substitution - Missense 11:130261636-130261636 - TCGA-CG-4304-01 COSM4019344 c.1068G>A p.T356T Substitution - coding silent 11:130239847-130239847 - SNU-175 COSM4019342 c.1219C>T p.R407* Substitution - Nonsense 11:130238492-130238492 - 407 COSM4430270 c.1330A>T p.M444L Substitution - Missense 11:130237031-130237031 - TCGA-AG-3892-01 COSM258398 c.446C>A p.S149Y Substitution - Missense 11:130261428-130261428 - TCGA-AG-A002-01 COSM264766 c.1013C>A p.S338Y Substitution - Missense 11:130260861-130260861 - ESCC-219T COSM3935383 c.1304A>G p.K435R Substitution - Missense 11:130237057-130237057 - TCGA-BS-A0UF-01 COSM924980 c.629C>A p.S210Y Substitution - Missense 11:130261245-130261245 - TCGA-EB-A3Y6-01 COSM3445328 c.862C>T p.R288W Substitution - Missense 11:130261012-130261012 - TCGA-G4-6304-01 COSM1352594 c.393T>A p.N131K Substitution - Missense 11:130261481-130261481 - TCGA-EB-A3Y6-01 COSM3445330 c.860T>C p.V287A Substitution - Missense 11:130261014-130261014 - 587350 COSM1180749 c.416delA p.K139fs*3 Deletion - Frameshift 11:130261458-130261458 - TCGA-EB-A41A-01 COSM3445332 c.697C>T p.P233S Substitution - Missense 11:130261177-130261177 - PD4005a COSM219295 c.1162G>C p.E388Q Substitution - Missense 11:130238549-130238549 - sysucc-311T COSM5477486 c.655A>C p.N219H Substitution - Missense 11:130261219-130261219 - 833T COSM5824739 c.914A>G p.Q305R Substitution - Missense 11:130260960-130260960 - TCGA-BR-4184-01 COSM4019342 c.1219C>T p.R407* Substitution - Nonsense 11:130238492-130238492 - TCGA-B0-5098-01 COSM1492487 c.708T>C p.I236I Substitution - coding silent 11:130261166-130261166 - OSCC-GB_01060111 COSM4882358 c.82G>T p.G28* Substitution - Nonsense 11:130261792-130261792 - TCGA-AP-A0LM-01 COSM924982 c.364G>A p.E122K Substitution - Missense 11:130261510-130261510 - TCGA-61-2111-01 COSM86761 c.1007C>T p.S336F Substitution - Missense 11:130260867-130260867 - TCGA-AG-A002-01 COSM264767 c.583C>T p.P195S Substitution - Missense 11:130261291-130261291 - TCGA-HC-A631-01 COSM4392218 c.799G>C p.A267P Substitution - Missense 11:130261075-130261075 - TCGA-BS-A0UF-01 COSM924979 c.910T>C p.S304P Substitution - Missense 11:130260964-130260964 - TCGA-BS-A0UF-01 COSM924985 c.21T>A p.T7T Substitution - coding silent 11:130261853-130261853 - CHC798T COSM4958325 c.823A>C p.T275P Substitution - Missense 11:130261051-130261051 - PD24304a COSM5796667 c.805T>G p.Y269D Substitution - Missense 11:130261069-130261069 - TCGA-B5-A0JY-01 COSM924984 c.165C>A p.F55L Substitution - Missense 11:130261709-130261709 - 481 COSM3724220 c.1337G>A p.R446H Substitution - Missense 11:130237024-130237024 - TCGA-BH-A18P-01 COSM428712 c.362C>T p.S121L Substitution - Missense 11:130261512-130261512 - PT15_1 COSM5897823 c.409C>T p.P137S Substitution - Missense 11:130261465-130261465 - N198T COSM236617 c.698C>A p.P233H Substitution - Missense 11:130261176-130261176 - PT52 COSM5940219 c.632C>T p.S211L Substitution - Missense 11:130261242-130261242 - D28 COSM3445332 c.697C>T p.P233S Substitution - Missense 11:130261177-130261177 - T3090 COSM4742181 c.477C>T p.S159S Substitution - coding silent 11:130261397-130261397 - SNU-C2B COSM2089303 c.1089G>A p.P363P Substitution - coding silent 11:130239826-130239826 - PT48 COSM5932932 c.1175C>T p.P392L Substitution - Missense 11:130238536-130238536 - CHC798T COSM4958325 c.823A>C p.T275P Substitution - Missense 11:130261051-130261051 - TCGA-BS-A0UV-01 COSM924978 c.1164G>T p.E388D Substitution - Missense 11:130238547-130238547 - TCGA-EW-A1IW-01 COSM1475264 c.1022C>T p.S341L Substitution - Missense 11:130239893-130239893 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.721465;Hs.721467;Hs.721470 11q24.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A IntronicInsertion . c.1-34428dupT 11 130166196 ESCA A T Nonsense p.L254* c.761T>A 11 130131008 RCCC A T Synonymous p.P242P c.726T>A 11 130131043 RCCC A T Synonymous p.P306P c.918T>A 11 130130851 GBM C A Missense p.R438S c.1314G>T 11 130106942 LUSC C A Missense p.V163L c.487G>T 11 130131282 HNSC C G Missense p.A267P c.799G>C 11 130130970 PRAD C G Missense p.E87Q c.259G>C 11 130131510 LUAD C G Missense p.R43P c.128G>C 11 130131641 CM C T IntronicSNV . c.1-34765G>A 11 130166533 CM C T IntronicSNV . c.1351+129G>A 11 130106776 UCEC C T Missense p.A92T c.274G>A 11 130131495 LUAD C T Missense p.G423E c.1268G>A 11 130106988 CM C T Missense p.R43Q c.128G>A 11 130131641 STAD C T Synonymous p.E301E c.903G>A 11 130130866 CM C T Synonymous p.T356T c.1068G>A 11 130109742 STAD G A IntronicSNV . c.1-34384C>T 11 130166152 CM G A Missense p.R36C c.106C>T 11 130131663 CM G A Missense p.R36C c.106C>T 11 130131663 ESCA G A Missense p.S336F c.1007C>T 11 130130762 OV G A Missense p.S341L c.1022C>T 11 130109788 BRCA G A Synonymous p.L442L c.1324C>T 11 130106932 CM G T Synonymous p.A64A c.192C>A 11 130131577 CM T A IntronicSNV . c.1-29609A>T 11 130161377 PIA