Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 4 175158607 175158607 + Missense_Mutation SNP G G A TCGA-OR-A5JD-01A-11D-A29I-10 TCGA-OR-A5JD-10B-01D-A29L-10 g.chr4:175158607G>A c.916C>T c.(916-918)Cat>Tat p.H306Y ACC 4 175184113 175184113 + Missense_Mutation SNP C C T TCGA-OR-A5J7-01A-11D-A29I-10 TCGA-OR-A5J7-10A-01D-A29L-10 g.chr4:175184113C>T c.131G>A c.(130-132)cGt>cAt p.R44H BLCA 4 175158643 175158643 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr4:175158643G>A c.880C>T c.(880-882)Cgc>Tgc p.R294C BLCA 4 175183939 175183939 + Missense_Mutation SNP G G T TCGA-PQ-A6FN-01A-11D-A31L-08 TCGA-PQ-A6FN-10A-01D-A31J-08 g.chr4:175183939G>T c.305C>A c.(304-306)gCg>gAg p.A102E BRCA 4 175184103 175184103 + Silent SNP G G T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 g.chr4:175184103G>T c.141C>A c.(139-141)gtC>gtA p.V47V COAD 4 175158629 175158630 + Frame_Shift_Ins INS - - T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:175158629_175158630insT c.893_894insA c.(892-894)aatfs p.N298fs COAD 4 175158667 175158667 + Frame_Shift_Del DEL T T - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr4:175158667delT c.856delA c.(856-858)aggfs p.R286fs COAD 4 175158716 175158716 + Silent SNP T T A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr4:175158716T>A c.807A>T c.(805-807)ctA>ctT p.L269L COAD 4 175162328 175162328 + Silent SNP C C T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr4:175162328C>T c.498G>A c.(496-498)tcG>tcA p.S166S COAD 4 175184040 175184040 + Silent SNP G G A TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr4:175184040G>A c.204C>T c.(202-204)ttC>ttT p.F68F COAD 4 175184058 175184058 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:175184058C>T c.186G>A c.(184-186)tcG>tcA p.S62S COADREAD 4 175158629 175158630 + Frame_Shift_Ins INS - - T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:175158629_175158630insT c.893_894insA c.(892-894)aatfs p.N298fs COADREAD 4 175158655 175158655 + Nonsense_Mutation SNP G G A TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr4:175158655G>A c.868C>T c.(868-870)Cga>Tga p.R290* COADREAD 4 175158667 175158667 + Frame_Shift_Del DEL T T - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr4:175158667delT c.856delA c.(856-858)aggfs p.R286fs COADREAD 4 175158716 175158716 + Silent SNP T T A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr4:175158716T>A c.807A>T c.(805-807)ctA>ctT p.L269L COADREAD 4 175162328 175162328 + Silent SNP C C T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr4:175162328C>T c.498G>A c.(496-498)tcG>tcA p.S166S COADREAD 4 175183938 175183938 + Silent SNP C C T TCGA-AG-A008-01A-01W-A005-10 TCGA-AG-A008-10A-01W-A005-10 g.chr4:175183938C>T c.306G>A c.(304-306)gcG>gcA p.A102A COADREAD 4 175184040 175184040 + Silent SNP G G A TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr4:175184040G>A c.204C>T c.(202-204)ttC>ttT p.F68F COADREAD 4 175184058 175184058 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:175184058C>T c.186G>A c.(184-186)tcG>tcA p.S62S ESCA 4 175158640 175158640 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr4:175158640C>A c.883G>T c.(883-885)Gct>Tct p.A295S GBM 4 175160248 175160248 + Silent SNP G G C TCGA-28-6450-01A-11D-1696-08 TCGA-28-6450-10A-01D-1696-08 g.chr4:175160248G>C c.669C>G c.(667-669)gcC>gcG p.A223A GBM 4 175180976 175180976 + Splice_Site SNP C C A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 g.chr4:175180976C>A c.330G>T c.(328-330)ggG>ggT p.G110G GBMLGG 4 175160248 175160248 + Silent SNP G G C TCGA-28-6450-01A-11D-1696-08 TCGA-28-6450-10A-01D-1696-08 g.chr4:175160248G>C c.669C>G c.(667-669)gcC>gcG p.A223A GBMLGG 4 175180976 175180976 + Splice_Site SNP C C A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 g.chr4:175180976C>A c.330G>T c.(328-330)ggG>ggT p.G110G HNSC 4 175158592 175158592 + Missense_Mutation SNP T T C TCGA-F7-A61V-01A-11D-A28R-08 TCGA-F7-A61V-10A-01D-A28U-08 g.chr4:175158592T>C c.931A>G c.(931-933)Atc>Gtc p.I311V HNSC 4 175158632 175158632 + Missense_Mutation SNP T T A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 g.chr4:175158632T>A c.891A>T c.(889-891)caA>caT p.Q297H HNSC 4 175160279 175160279 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 g.chr4:175160279G>A c.638C>T c.(637-639)gCa>gTa p.A213V HNSC 4 175162265 175162265 + Missense_Mutation SNP G G C TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr4:175162265G>C c.561C>G c.(559-561)atC>atG p.I187M HNSC 4 175162340 175162340 + Silent SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 g.chr4:175162340G>T c.486C>A c.(484-486)atC>atA p.I162I HNSC 4 175183944 175183944 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr4:175183944G>A c.300C>T c.(298-300)gaC>gaT p.D100D LIHC 4 175162348 175162348 + Nonsense_Mutation SNP T T A TCGA-DD-AACT-01A-11D-A40R-10 TCGA-DD-AACT-10A-01D-A40U-10 g.chr4:175162348T>A c.478A>T c.(478-480)Aag>Tag p.K160* LIHC 4 175183929 175183929 + Missense_Mutation SNP T T G TCGA-LG-A9QD-01A-11D-A382-10 TCGA-LG-A9QD-10A-01D-A385-10 g.chr4:175183929T>G c.315A>C c.(313-315)gaA>gaC p.E105D LUAD 4 175180957 175180957 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr4:175180957C>A c.349G>T c.(349-351)Ggt>Tgt p.G117C LUSC 4 175160165 175160165 + Missense_Mutation SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr4:175160165C>A c.752G>T c.(751-753)cGa>cTa p.R251L PCPG 4 175183979 175183979 + Missense_Mutation SNP T T C TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 g.chr4:175183979T>C c.265A>G c.(265-267)Act>Gct p.T89A READ 4 175158655 175158655 + Nonsense_Mutation SNP G G A TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr4:175158655G>A c.868C>T c.(868-870)Cga>Tga p.R290* READ 4 175183938 175183938 + Silent SNP C C T TCGA-AG-A008-01A-01W-A005-10 TCGA-AG-A008-10A-01W-A005-10 g.chr4:175183938C>T c.306G>A c.(304-306)gcG>gcA p.A102A SKCM 4 175184040 175184040 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr4:175184040G>A c.204C>T c.(202-204)ttC>ttT p.F68F SKCM 4 175184102 175184102 + Nonsense_Mutation SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr4:175184102G>A c.142C>T c.(142-144)Caa>Taa p.Q48*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 4 175158643 175158643 single base substitution G A 3_prime_UTR_variant BLCA-US 4 175158643 175158643 single base substitution G A downstream_gene_variant BLCA-US 4 175158643 175158643 single base substitution G A missense_variant R253C 757C>T BLCA-US 4 175158643 175158643 single base substitution G A missense_variant R294C 880C>T BRCA-EU 4 175155340 175155340 single base substitution T C downstream_gene_variant BRCA-EU 4 175157023 175157023 single base substitution A C downstream_gene_variant BRCA-EU 4 175157956 175157956 single base substitution A T 3_prime_UTR_variant BRCA-EU 4 175157956 175157956 single base substitution A T downstream_gene_variant BRCA-EU 4 175158184 175158184 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 175158184 175158184 single base substitution C T downstream_gene_variant BRCA-EU 4 175159569 175159569 single base substitution T C downstream_gene_variant BRCA-EU 4 175159569 175159569 single base substitution T C intron_variant BRCA-EU 4 175159600 175159600 single base substitution A G downstream_gene_variant BRCA-EU 4 175159600 175159600 single base substitution A G intron_variant BRCA-EU 4 175161047 175161047 single base substitution A G downstream_gene_variant BRCA-EU 4 175161047 175161047 single base substitution A G intron_variant BRCA-EU 4 175161081 175161081 single base substitution C T downstream_gene_variant BRCA-EU 4 175161081 175161081 single base substitution C T intron_variant BRCA-EU 4 175161257 175161257 single base substitution T G downstream_gene_variant BRCA-EU 4 175161257 175161257 single base substitution T G intron_variant BRCA-EU 4 175161829 175161829 single base substitution C T downstream_gene_variant BRCA-EU 4 175161829 175161829 single base substitution C T intron_variant BRCA-EU 4 175163401 175163404 deletion of <=200bp ACTT - intron_variant BRCA-EU 4 175163863 175163863 single base substitution C G intron_variant BRCA-EU 4 175164574 175164574 single base substitution T C intron_variant BRCA-EU 4 175165512 175165512 single base substitution T A intron_variant BRCA-EU 4 175168715 175168715 single base substitution T A intron_variant BRCA-EU 4 175168764 175168764 single base substitution A C intron_variant BRCA-EU 4 175170279 175170279 single base substitution C T intron_variant BRCA-EU 4 175172926 175172926 single base substitution C G intron_variant BRCA-EU 4 175173963 175173963 deletion of <=200bp A - intron_variant BRCA-EU 4 175179443 175179443 single base substitution T C intron_variant BRCA-EU 4 175182594 175182594 single base substitution G C intron_variant BRCA-EU 4 175185625 175185625 single base substitution G A intron_variant BRCA-EU 4 175186014 175186014 single base substitution A C intron_variant BRCA-EU 4 175186461 175186461 single base substitution T A intron_variant BRCA-EU 4 175188981 175188981 single base substitution T C intron_variant BRCA-EU 4 175189391 175189391 single base substitution C T intron_variant BRCA-EU 4 175190319 175190319 single base substitution C T intron_variant BRCA-EU 4 175190319 175190319 single base substitution C T splice_acceptor_variant BRCA-EU 4 175190574 175190574 single base substitution T C intron_variant BRCA-EU 4 175190832 175190832 single base substitution A G intron_variant BRCA-EU 4 175191598 175191599 deletion of <=200bp TA - intron_variant BRCA-EU 4 175193047 175193047 deletion of <=200bp G - intron_variant BRCA-EU 4 175193277 175193277 single base substitution G T intron_variant BRCA-EU 4 175193593 175193593 insertion of <=200bp - T intron_variant BRCA-EU 4 175193680 175193680 single base substitution A T intron_variant BRCA-EU 4 175194681 175194681 single base substitution C T intron_variant BRCA-EU 4 175197291 175197291 single base substitution C T intron_variant BRCA-EU 4 175197431 175197431 single base substitution C A intron_variant BRCA-EU 4 175197815 175197815 single base substitution T A intron_variant BRCA-EU 4 175199802 175199802 single base substitution G T intron_variant BRCA-EU 4 175200674 175200674 single base substitution C T intron_variant BRCA-EU 4 175201725 175201725 single base substitution T C intron_variant BRCA-EU 4 175203509 175203509 single base substitution G A intron_variant BRCA-EU 4 175205071 175205071 single base substitution C T 5_prime_UTR_variant BRCA-EU 4 175205071 175205071 single base substitution C T upstream_gene_variant BRCA-EU 4 175207449 175207449 single base substitution A C upstream_gene_variant BRCA-EU 4 175207653 175207653 single base substitution T A upstream_gene_variant BRCA-EU 4 175209468 175209468 single base substitution T A upstream_gene_variant BRCA-EU 4 175210370 175210370 single base substitution T G upstream_gene_variant BRCA-FR 4 175158184 175158184 single base substitution C T 3_prime_UTR_variant BRCA-FR 4 175158184 175158184 single base substitution C T downstream_gene_variant BRCA-FR 4 175170279 175170279 single base substitution C T intron_variant BRCA-FR 4 175172926 175172926 single base substitution C G intron_variant BRCA-FR 4 175186014 175186014 single base substitution A C intron_variant BRCA-FR 4 175195150 175195150 single base substitution G C intron_variant BRCA-FR 4 175200674 175200674 single base substitution C T intron_variant BRCA-FR 4 175205071 175205071 single base substitution C T 5_prime_UTR_variant BRCA-FR 4 175205071 175205071 single base substitution C T upstream_gene_variant BRCA-FR 4 175205789 175205789 single base substitution C G upstream_gene_variant BRCA-UK 4 175182253 175182253 single base substitution C T intron_variant BRCA-UK 4 175183933 175183933 single base substitution T A exon_variant BRCA-UK 4 175183933 175183933 single base substitution T A missense_variant D104V 311A>T BRCA-UK 4 175183933 175183933 single base substitution T A missense_variant D63V 188A>T BRCA-UK 4 175186461 175186461 single base substitution T A intron_variant BRCA-US 4 175184103 175184103 single base substitution G T exon_variant BRCA-US 4 175184103 175184103 single base substitution G T synonymous_variant V47V 141C>A BTCA-JP 4 175160173 175160173 single base substitution A C 3_prime_UTR_variant BTCA-JP 4 175160173 175160173 single base substitution A C downstream_gene_variant BTCA-JP 4 175160173 175160173 single base substitution A C missense_variant D207E 621T>G BTCA-JP 4 175160173 175160173 single base substitution A C missense_variant D248E 744T>G CLLE-ES 4 175157605 175157605 single base substitution A T downstream_gene_variant CLLE-ES 4 175160850 175160850 single base substitution T C downstream_gene_variant CLLE-ES 4 175160850 175160850 single base substitution T C intron_variant CLLE-ES 4 175173281 175173281 single base substitution G A intron_variant CLLE-ES 4 175176309 175176309 single base substitution A G intron_variant CLLE-ES 4 175180839 175180839 single base substitution T A intron_variant CLLE-ES 4 175186770 175186770 single base substitution A G intron_variant COAD-US 4 175158629 175158629 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 4 175158629 175158629 insertion of <=200bp - T downstream_gene_variant COAD-US 4 175158629 175158629 insertion of <=200bp - T frameshift_variant N257N? COAD-US 4 175158629 175158629 insertion of <=200bp - T frameshift_variant N298N? COAD-US 4 175158667 175158667 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 4 175158667 175158667 deletion of <=200bp T - downstream_gene_variant COAD-US 4 175158667 175158667 deletion of <=200bp T - frameshift_variant R245 COAD-US 4 175158667 175158667 deletion of <=200bp T - frameshift_variant R286 COAD-US 4 175180931 175180931 single base substitution G A exon_variant COAD-US 4 175180931 175180931 single base substitution G A synonymous_variant N125N 375C>T COAD-US 4 175180931 175180931 single base substitution G A synonymous_variant N84N 252C>T COAD-US 4 175180938 175180938 single base substitution T C exon_variant COAD-US 4 175180938 175180938 single base substitution T C missense_variant N123S 368A>G COAD-US 4 175180938 175180938 single base substitution T C missense_variant N82S 245A>G COCA-CN 4 175158800 175158800 single base substitution G T downstream_gene_variant COCA-CN 4 175158800 175158800 single base substitution G T intron_variant COCA-CN 4 175184131 175184131 single base substitution A C exon_variant COCA-CN 4 175184131 175184131 single base substitution A C missense_variant I38S 113T>G COCA-CN 4 175188700 175188700 single base substitution A T intron_variant COCA-CN 4 175199405 175199405 single base substitution A C intron_variant EOPC-DE 4 175163765 175163765 single base substitution G A intron_variant EOPC-DE 4 175163815 175163815 single base substitution T C intron_variant EOPC-DE 4 175166048 175166048 single base substitution A T intron_variant EOPC-DE 4 175206428 175206428 single base substitution C T upstream_gene_variant ESAD-UK 4 175154769 175154769 single base substitution T G downstream_gene_variant ESAD-UK 4 175156915 175156915 deletion of <=200bp A - downstream_gene_variant ESAD-UK 4 175157159 175157159 single base substitution A C downstream_gene_variant ESAD-UK 4 175159053 175159053 single base substitution T A downstream_gene_variant ESAD-UK 4 175159053 175159053 single base substitution T A intron_variant ESAD-UK 4 175159947 175159948 deletion of <=200bp CA - downstream_gene_variant ESAD-UK 4 175159947 175159948 deletion of <=200bp CA - intron_variant ESAD-UK 4 175160261 175160261 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 175160261 175160261 single base substitution C T downstream_gene_variant ESAD-UK 4 175160261 175160261 single base substitution C T missense_variant R178H 533G>A ESAD-UK 4 175160261 175160261 single base substitution C T missense_variant R219H 656G>A ESAD-UK 4 175164465 175164465 single base substitution T G intron_variant ESAD-UK 4 175164745 175164745 deletion of <=200bp A - intron_variant ESAD-UK 4 175164961 175164962 deletion of <=200bp AT - intron_variant ESAD-UK 4 175165606 175165606 single base substitution C T intron_variant ESAD-UK 4 175166792 175166792 single base substitution G T intron_variant ESAD-UK 4 175166896 175166896 single base substitution G A intron_variant ESAD-UK 4 175167063 175167063 deletion of <=200bp A - intron_variant ESAD-UK 4 175167067 175167067 single base substitution A G intron_variant ESAD-UK 4 175167413 175167413 single base substitution A G intron_variant ESAD-UK 4 175170753 175170753 single base substitution A T intron_variant ESAD-UK 4 175171628 175171628 single base substitution T C intron_variant ESAD-UK 4 175171759 175171759 single base substitution C T intron_variant ESAD-UK 4 175172271 175172271 single base substitution A T intron_variant ESAD-UK 4 175173963 175173963 insertion of <=200bp - A intron_variant ESAD-UK 4 175175737 175175737 single base substitution C T intron_variant ESAD-UK 4 175176116 175176116 insertion of <=200bp - A intron_variant ESAD-UK 4 175176699 175176699 single base substitution T A intron_variant ESAD-UK 4 175177641 175177641 single base substitution T C intron_variant ESAD-UK 4 175179719 175179719 single base substitution A T intron_variant ESAD-UK 4 175183245 175183245 single base substitution A C intron_variant ESAD-UK 4 175183469 175183469 single base substitution G T intron_variant ESAD-UK 4 175185889 175185889 single base substitution C T intron_variant ESAD-UK 4 175185969 175185969 single base substitution G T intron_variant ESAD-UK 4 175188459 175188459 single base substitution G C intron_variant ESAD-UK 4 175189866 175189866 single base substitution C T intron_variant ESAD-UK 4 175192588 175192588 single base substitution C T intron_variant ESAD-UK 4 175193680 175193680 insertion of <=200bp - A intron_variant ESAD-UK 4 175197791 175197791 single base substitution G A intron_variant ESAD-UK 4 175197809 175197809 single base substitution T A intron_variant ESAD-UK 4 175197966 175197966 single base substitution G C intron_variant ESAD-UK 4 175203965 175203965 single base substitution T A intron_variant ESAD-UK 4 175205280 175205280 single base substitution G C 5_prime_UTR_variant ESAD-UK 4 175205280 175205280 single base substitution G C upstream_gene_variant ESAD-UK 4 175205622 175205622 single base substitution G C upstream_gene_variant ESAD-UK 4 175206713 175206713 single base substitution A C upstream_gene_variant ESAD-UK 4 175207884 175207884 single base substitution T C upstream_gene_variant ESAD-UK 4 175208067 175208067 single base substitution T C upstream_gene_variant ESCA-CN 4 175162368 175162368 single base substitution C T missense_variant G112E 335G>A ESCA-CN 4 175162368 175162368 single base substitution C T missense_variant G153E 458G>A ESCA-CN 4 175162368 175162368 single base substitution C T splice_region_variant ESCA-CN 4 175184030 175184030 single base substitution C T exon_variant ESCA-CN 4 175184030 175184030 single base substitution C T intron_variant ESCA-CN 4 175184030 175184030 single base substitution C T missense_variant E72K 214G>A GBM-US 4 175160248 175160248 single base substitution G C 3_prime_UTR_variant GBM-US 4 175160248 175160248 single base substitution G C downstream_gene_variant GBM-US 4 175160248 175160248 single base substitution G C synonymous_variant A182A 546C>G GBM-US 4 175160248 175160248 single base substitution G C synonymous_variant A223A 669C>G GBM-US 4 175180976 175180976 single base substitution C A splice_region_variant LAML-KR 4 175156239 175156239 single base substitution C A downstream_gene_variant LAML-KR 4 175181174 175181174 single base substitution C A intron_variant LICA-FR 4 175153863 175153863 single base substitution T A downstream_gene_variant LICA-FR 4 175158099 175158099 single base substitution C G 3_prime_UTR_variant LICA-FR 4 175158099 175158099 single base substitution C G downstream_gene_variant LICA-FR 4 175161524 175161524 single base substitution G T downstream_gene_variant LICA-FR 4 175161524 175161524 single base substitution G T intron_variant LICA-FR 4 175190830 175190830 deletion of <=200bp A - intron_variant LICA-FR 4 175201324 175201324 deletion of <=200bp A - intron_variant LINC-JP 4 175159944 175159944 single base substitution A G downstream_gene_variant LINC-JP 4 175159944 175159944 single base substitution A G intron_variant LINC-JP 4 175160134 175160134 single base substitution T A downstream_gene_variant LINC-JP 4 175160134 175160134 single base substitution T A intron_variant LINC-JP 4 175160395 175160395 single base substitution T C downstream_gene_variant LINC-JP 4 175160395 175160395 single base substitution T C intron_variant LINC-JP 4 175162441 175162441 deletion of <=200bp C - intron_variant LINC-JP 4 175169984 175169984 single base substitution T C intron_variant LINC-JP 4 175177384 175177384 deletion of <=200bp T - intron_variant LINC-JP 4 175182247 175182247 single base substitution T C intron_variant LINC-JP 4 175184119 175184119 single base substitution T C exon_variant LINC-JP 4 175184119 175184119 single base substitution T C missense_variant N42S 125A>G LINC-JP 4 175191406 175191406 single base substitution T C intron_variant LIRI-JP 4 175153352 175153352 single base substitution T G downstream_gene_variant LIRI-JP 4 175153447 175153447 single base substitution A G downstream_gene_variant LIRI-JP 4 175153567 175153567 single base substitution G A downstream_gene_variant LIRI-JP 4 175154006 175154006 single base substitution C A downstream_gene_variant LIRI-JP 4 175154012 175154012 single base substitution T C downstream_gene_variant LIRI-JP 4 175155221 175155221 single base substitution A T downstream_gene_variant LIRI-JP 4 175156485 175156485 single base substitution T C downstream_gene_variant LIRI-JP 4 175157429 175157429 single base substitution T C downstream_gene_variant LIRI-JP 4 175160974 175160974 single base substitution T C downstream_gene_variant LIRI-JP 4 175160974 175160974 single base substitution T C intron_variant LIRI-JP 4 175161074 175161075 deletion of <=200bp AA - downstream_gene_variant LIRI-JP 4 175161074 175161075 deletion of <=200bp AA - intron_variant LIRI-JP 4 175161610 175161610 single base substitution T C downstream_gene_variant LIRI-JP 4 175161610 175161610 single base substitution T C intron_variant LIRI-JP 4 175161945 175161945 single base substitution C A downstream_gene_variant LIRI-JP 4 175161945 175161945 single base substitution C A intron_variant LIRI-JP 4 175162705 175162705 single base substitution A C intron_variant LIRI-JP 4 175164794 175164794 single base substitution G A intron_variant LIRI-JP 4 175165851 175165851 single base substitution G A intron_variant LIRI-JP 4 175166572 175166572 single base substitution A C intron_variant LIRI-JP 4 175171470 175171470 single base substitution T A intron_variant LIRI-JP 4 175174761 175174761 single base substitution C T intron_variant LIRI-JP 4 175176160 175176160 single base substitution T C intron_variant LIRI-JP 4 175177041 175177041 single base substitution T C intron_variant LIRI-JP 4 175179152 175179152 single base substitution T G intron_variant LIRI-JP 4 175179170 175179170 single base substitution T C intron_variant LIRI-JP 4 175179902 175179902 single base substitution T A intron_variant LIRI-JP 4 175180963 175180963 single base substitution T C exon_variant LIRI-JP 4 175180963 175180963 single base substitution T C missense_variant T115A 343A>G LIRI-JP 4 175180963 175180963 single base substitution T C missense_variant T74A 220A>G LIRI-JP 4 175181016 175181016 single base substitution C T intron_variant LIRI-JP 4 175184582 175184582 single base substitution T A intron_variant LIRI-JP 4 175186944 175186944 deletion of <=200bp A - intron_variant LIRI-JP 4 175189872 175189872 single base substitution C G intron_variant LIRI-JP 4 175191794 175191794 single base substitution A C intron_variant LIRI-JP 4 175192019 175192019 single base substitution C T intron_variant LIRI-JP 4 175194185 175194185 single base substitution C T intron_variant LIRI-JP 4 175194746 175194746 single base substitution G T intron_variant LIRI-JP 4 175195287 175195287 single base substitution C A intron_variant LIRI-JP 4 175195288 175195288 single base substitution C G intron_variant LIRI-JP 4 175197604 175197604 single base substitution G C intron_variant LIRI-JP 4 175198569 175198569 single base substitution C A intron_variant LIRI-JP 4 175198908 175198924 deletion of <=200bp CTGTCTCAGATAAAGGT - intron_variant LIRI-JP 4 175199846 175199846 single base substitution T C intron_variant LIRI-JP 4 175202556 175202556 single base substitution T C intron_variant LIRI-JP 4 175203509 175203509 single base substitution G T intron_variant LIRI-JP 4 175203733 175203733 single base substitution G A intron_variant LIRI-JP 4 175208217 175208217 single base substitution A G upstream_gene_variant LUSC-KR 4 175152981 175152981 single base substitution T A downstream_gene_variant LUSC-KR 4 175153419 175153419 single base substitution C G downstream_gene_variant LUSC-KR 4 175157604 175157604 single base substitution T A downstream_gene_variant LUSC-KR 4 175158393 175158393 single base substitution C A 3_prime_UTR_variant LUSC-KR 4 175158393 175158393 single base substitution C A downstream_gene_variant LUSC-KR 4 175158971 175158971 single base substitution C A downstream_gene_variant LUSC-KR 4 175158971 175158971 single base substitution C A intron_variant LUSC-KR 4 175159452 175159452 single base substitution A G downstream_gene_variant LUSC-KR 4 175159452 175159452 single base substitution A G intron_variant LUSC-KR 4 175160150 175160150 single base substitution C A 3_prime_UTR_variant LUSC-KR 4 175160150 175160150 single base substitution C A downstream_gene_variant LUSC-KR 4 175160150 175160150 single base substitution C A missense_variant S215I 644G>T LUSC-KR 4 175160150 175160150 single base substitution C A missense_variant S256I 767G>T LUSC-KR 4 175162568 175162568 single base substitution G T intron_variant LUSC-KR 4 175165771 175165771 single base substitution T C intron_variant LUSC-KR 4 175166198 175166198 single base substitution T C intron_variant LUSC-KR 4 175179032 175179032 single base substitution T C intron_variant LUSC-KR 4 175179413 175179413 single base substitution A T intron_variant LUSC-KR 4 175182344 175182344 single base substitution C G intron_variant LUSC-KR 4 175186848 175186848 single base substitution T C intron_variant LUSC-KR 4 175189410 175189410 single base substitution G A intron_variant LUSC-KR 4 175191499 175191499 single base substitution A G intron_variant LUSC-KR 4 175195621 175195621 single base substitution C T intron_variant LUSC-KR 4 175196966 175196966 single base substitution C A intron_variant LUSC-KR 4 175197038 175197038 single base substitution T A intron_variant LUSC-KR 4 175199870 175199870 single base substitution C A intron_variant LUSC-KR 4 175204599 175204599 single base substitution T A 5_prime_UTR_variant LUSC-KR 4 175205499 175205499 single base substitution C G upstream_gene_variant LUSC-US 4 175160165 175160165 single base substitution C A 3_prime_UTR_variant LUSC-US 4 175160165 175160165 single base substitution C A downstream_gene_variant LUSC-US 4 175160165 175160165 single base substitution C A missense_variant R210L 629G>T LUSC-US 4 175160165 175160165 single base substitution C A missense_variant R251L 752G>T MALY-DE 4 175162528 175162528 single base substitution C T intron_variant MALY-DE 4 175166047 175166047 single base substitution T A intron_variant MALY-DE 4 175167430 175167430 single base substitution C T intron_variant MALY-DE 4 175171928 175171928 single base substitution C T intron_variant MALY-DE 4 175173805 175173806 deletion of <=200bp CA - intron_variant MALY-DE 4 175177977 175177977 single base substitution G A intron_variant MALY-DE 4 175187266 175187266 single base substitution A T intron_variant MALY-DE 4 175189951 175189951 single base substitution C T intron_variant MALY-DE 4 175190563 175190563 single base substitution G A intron_variant MALY-DE 4 175197703 175197703 single base substitution A T intron_variant MALY-DE 4 175200771 175200771 single base substitution C G intron_variant MELA-AU 4 175152839 175152839 single base substitution C T downstream_gene_variant MELA-AU 4 175153321 175153321 single base substitution G A downstream_gene_variant MELA-AU 4 175153446 175153446 single base substitution G A downstream_gene_variant MELA-AU 4 175153926 175153926 single base substitution G A downstream_gene_variant MELA-AU 4 175154263 175154263 single base substitution G A downstream_gene_variant MELA-AU 4 175154276 175154276 single base substitution G A downstream_gene_variant MELA-AU 4 175154358 175154358 single base substitution G A downstream_gene_variant MELA-AU 4 175154599 175154599 single base substitution G A downstream_gene_variant MELA-AU 4 175154793 175154793 single base substitution G A downstream_gene_variant MELA-AU 4 175154858 175154858 single base substitution G A downstream_gene_variant MELA-AU 4 175155225 175155225 single base substitution G A downstream_gene_variant MELA-AU 4 175155363 175155363 single base substitution A T downstream_gene_variant MELA-AU 4 175155460 175155460 single base substitution G A downstream_gene_variant MELA-AU 4 175155497 175155497 single base substitution G A downstream_gene_variant MELA-AU 4 175155634 175155634 single base substitution G A downstream_gene_variant MELA-AU 4 175156060 175156060 single base substitution G A downstream_gene_variant MELA-AU 4 175156372 175156372 single base substitution G A downstream_gene_variant MELA-AU 4 175156910 175156910 single base substitution G A downstream_gene_variant MELA-AU 4 175156923 175156923 single base substitution G A downstream_gene_variant MELA-AU 4 175157174 175157174 single base substitution G A downstream_gene_variant MELA-AU 4 175157847 175157847 single base substitution G A 3_prime_UTR_variant MELA-AU 4 175157847 175157847 single base substitution G A downstream_gene_variant MELA-AU 4 175158108 175158108 single base substitution T G 3_prime_UTR_variant MELA-AU 4 175158108 175158108 single base substitution T G downstream_gene_variant MELA-AU 4 175158230 175158230 single base substitution G A 3_prime_UTR_variant MELA-AU 4 175158230 175158230 single base substitution G A downstream_gene_variant MELA-AU 4 175160241 175160241 single base substitution C A 3_prime_UTR_variant MELA-AU 4 175160241 175160241 single base substitution C A downstream_gene_variant MELA-AU 4 175160241 175160241 single base substitution C A stop_gained E185* 553G>T MELA-AU 4 175160241 175160241 single base substitution C A stop_gained E226* 676G>T MELA-AU 4 175160927 175160927 single base substitution G A downstream_gene_variant MELA-AU 4 175160927 175160927 single base substitution G A intron_variant MELA-AU 4 175161449 175161449 single base substitution C T downstream_gene_variant MELA-AU 4 175161449 175161449 single base substitution C T intron_variant MELA-AU 4 175162115 175162115 single base substitution A G downstream_gene_variant MELA-AU 4 175162115 175162115 single base substitution A G intron_variant MELA-AU 4 175162626 175162626 single base substitution G A intron_variant MELA-AU 4 175162661 175162661 single base substitution G T intron_variant MELA-AU 4 175162880 175162880 single base substitution G A intron_variant MELA-AU 4 175163723 175163723 single base substitution G A intron_variant MELA-AU 4 175163875 175163875 single base substitution G A intron_variant MELA-AU 4 175163876 175163876 single base substitution G A intron_variant MELA-AU 4 175164441 175164441 single base substitution G A intron_variant MELA-AU 4 175164482 175164482 single base substitution G A intron_variant MELA-AU 4 175165822 175165822 single base substitution G A intron_variant MELA-AU 4 175166443 175166443 single base substitution G A intron_variant MELA-AU 4 175167051 175167051 single base substitution G A intron_variant MELA-AU 4 175167657 175167658 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 175167707 175167707 single base substitution G A intron_variant MELA-AU 4 175167708 175167708 single base substitution A G intron_variant MELA-AU 4 175169205 175169205 single base substitution G A intron_variant MELA-AU 4 175169212 175169212 single base substitution G A intron_variant MELA-AU 4 175169460 175169460 single base substitution G A intron_variant MELA-AU 4 175169598 175169598 single base substitution G T intron_variant MELA-AU 4 175170227 175170227 single base substitution C T intron_variant MELA-AU 4 175170633 175170633 single base substitution C A intron_variant MELA-AU 4 175171702 175171702 single base substitution G A intron_variant MELA-AU 4 175172016 175172016 single base substitution C T intron_variant MELA-AU 4 175172596 175172596 single base substitution G A intron_variant MELA-AU 4 175173007 175173007 single base substitution G A intron_variant MELA-AU 4 175173827 175173827 single base substitution C T intron_variant MELA-AU 4 175174409 175174410 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 175174410 175174410 single base substitution G A intron_variant MELA-AU 4 175174962 175174962 single base substitution A G intron_variant MELA-AU 4 175175032 175175032 single base substitution G A intron_variant MELA-AU 4 175175039 175175039 single base substitution G A intron_variant MELA-AU 4 175175150 175175150 single base substitution G A intron_variant MELA-AU 4 175175283 175175283 single base substitution G A intron_variant MELA-AU 4 175175477 175175477 single base substitution C T intron_variant MELA-AU 4 175175601 175175601 single base substitution C T intron_variant MELA-AU 4 175175931 175175931 single base substitution G A intron_variant MELA-AU 4 175176628 175176628 single base substitution G A intron_variant MELA-AU 4 175178810 175178810 single base substitution A T intron_variant MELA-AU 4 175178983 175178983 single base substitution C T intron_variant MELA-AU 4 175179717 175179717 insertion of <=200bp - AT intron_variant MELA-AU 4 175180044 175180044 single base substitution G A intron_variant MELA-AU 4 175181027 175181027 single base substitution C T intron_variant MELA-AU 4 175182248 175182248 single base substitution G A intron_variant MELA-AU 4 175182739 175182739 single base substitution T A intron_variant MELA-AU 4 175183050 175183050 single base substitution G A intron_variant MELA-AU 4 175183788 175183788 single base substitution T A intron_variant MELA-AU 4 175184407 175184407 single base substitution G A intron_variant MELA-AU 4 175184831 175184831 single base substitution C T intron_variant MELA-AU 4 175185154 175185154 single base substitution A G intron_variant MELA-AU 4 175185588 175185589 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 4 175185713 175185713 single base substitution G A intron_variant MELA-AU 4 175185785 175185785 single base substitution G A intron_variant MELA-AU 4 175185900 175185901 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 175185939 175185939 single base substitution A G intron_variant MELA-AU 4 175186001 175186001 single base substitution G A intron_variant MELA-AU 4 175186195 175186195 single base substitution G A intron_variant MELA-AU 4 175186656 175186656 single base substitution G A intron_variant MELA-AU 4 175187417 175187417 single base substitution T A intron_variant MELA-AU 4 175188061 175188061 single base substitution G A intron_variant MELA-AU 4 175188487 175188487 single base substitution G A intron_variant MELA-AU 4 175189329 175189330 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 175189692 175189692 single base substitution A G intron_variant MELA-AU 4 175190656 175190656 single base substitution G A intron_variant MELA-AU 4 175190759 175190759 single base substitution C T intron_variant MELA-AU 4 175190860 175190860 single base substitution G A intron_variant MELA-AU 4 175191505 175191505 single base substitution T A intron_variant MELA-AU 4 175191507 175191507 single base substitution A C intron_variant MELA-AU 4 175192020 175192020 single base substitution G A intron_variant MELA-AU 4 175192213 175192213 single base substitution G A intron_variant MELA-AU 4 175193287 175193287 single base substitution G A intron_variant MELA-AU 4 175193291 175193291 single base substitution G A intron_variant MELA-AU 4 175194099 175194099 single base substitution G A intron_variant MELA-AU 4 175194140 175194140 single base substitution G A intron_variant MELA-AU 4 175194426 175194426 single base substitution A G intron_variant MELA-AU 4 175194885 175194885 single base substitution G A intron_variant MELA-AU 4 175194910 175194910 single base substitution T C intron_variant MELA-AU 4 175194999 175195001 deletion of <=200bp ATT - intron_variant MELA-AU 4 175195047 175195047 single base substitution G A intron_variant MELA-AU 4 175195624 175195624 single base substitution G A intron_variant MELA-AU 4 175195905 175195905 single base substitution G A intron_variant MELA-AU 4 175195962 175195962 single base substitution G A intron_variant MELA-AU 4 175196191 175196191 single base substitution A G intron_variant MELA-AU 4 175196688 175196688 single base substitution G A intron_variant MELA-AU 4 175197270 175197270 single base substitution T A intron_variant MELA-AU 4 175198428 175198428 single base substitution G A intron_variant MELA-AU 4 175198705 175198705 single base substitution G A intron_variant MELA-AU 4 175199667 175199667 single base substitution C T intron_variant MELA-AU 4 175200144 175200144 single base substitution G A intron_variant MELA-AU 4 175200231 175200231 single base substitution G A intron_variant MELA-AU 4 175200726 175200726 single base substitution G A intron_variant MELA-AU 4 175204595 175204595 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 175204818 175204818 single base substitution T A 5_prime_UTR_variant MELA-AU 4 175204818 175204818 single base substitution T A upstream_gene_variant MELA-AU 4 175204983 175204983 single base substitution G A 5_prime_UTR_variant MELA-AU 4 175204983 175204983 single base substitution G A upstream_gene_variant MELA-AU 4 175205606 175205606 single base substitution G A upstream_gene_variant MELA-AU 4 175207021 175207021 single base substitution C T upstream_gene_variant MELA-AU 4 175207035 175207035 single base substitution C T upstream_gene_variant MELA-AU 4 175207834 175207834 single base substitution C T upstream_gene_variant MELA-AU 4 175207850 175207850 single base substitution G A upstream_gene_variant MELA-AU 4 175208281 175208281 single base substitution G A upstream_gene_variant MELA-AU 4 175208785 175208785 single base substitution G C upstream_gene_variant MELA-AU 4 175208807 175208807 single base substitution C T upstream_gene_variant MELA-AU 4 175209115 175209115 single base substitution G T upstream_gene_variant MELA-AU 4 175209528 175209528 single base substitution T C upstream_gene_variant ORCA-IN 4 175195364 175195364 single base substitution G C intron_variant ORCA-IN 4 175197174 175197174 single base substitution A G intron_variant OV-AU 4 175159008 175159008 single base substitution C A downstream_gene_variant OV-AU 4 175159008 175159008 single base substitution C A intron_variant OV-AU 4 175161685 175161685 single base substitution G C downstream_gene_variant OV-AU 4 175161685 175161685 single base substitution G C intron_variant OV-AU 4 175165671 175165671 single base substitution C T intron_variant OV-AU 4 175170376 175170376 single base substitution A G intron_variant OV-AU 4 175173495 175173495 single base substitution T C intron_variant OV-AU 4 175177499 175177499 single base substitution T C intron_variant OV-AU 4 175180711 175180711 single base substitution T A intron_variant OV-AU 4 175183836 175183836 single base substitution A G intron_variant OV-AU 4 175184771 175184771 single base substitution A G intron_variant OV-AU 4 175187643 175187643 single base substitution G A intron_variant OV-AU 4 175206584 175206584 single base substitution G A upstream_gene_variant OV-AU 4 175207870 175207870 single base substitution G C upstream_gene_variant PACA-AU 4 175155879 175155879 single base substitution C T downstream_gene_variant PACA-AU 4 175158665 175158665 single base substitution C T 3_prime_UTR_variant PACA-AU 4 175158665 175158665 single base substitution C T downstream_gene_variant PACA-AU 4 175158665 175158665 single base substitution C T synonymous_variant R245R 735G>A PACA-AU 4 175158665 175158665 single base substitution C T synonymous_variant R286R 858G>A PACA-AU 4 175160365 175160365 single base substitution G A downstream_gene_variant PACA-AU 4 175160365 175160365 single base substitution G A intron_variant PACA-AU 4 175160986 175160986 single base substitution T A downstream_gene_variant PACA-AU 4 175160986 175160986 single base substitution T A intron_variant PACA-AU 4 175169724 175169724 deletion of <=200bp G - intron_variant PACA-AU 4 175173827 175173827 single base substitution C T intron_variant PACA-AU 4 175177194 175177194 single base substitution G A 3_prime_UTR_variant PACA-AU 4 175177194 175177194 single base substitution G A intron_variant PACA-AU 4 175193797 175193797 insertion of <=200bp - A intron_variant PACA-AU 4 175194999 175195001 deletion of <=200bp ATT - intron_variant PACA-AU 4 175196530 175196545 deletion of <=200bp ATGGGGGATTGTATCA - intron_variant PACA-AU 4 175198192 175198192 single base substitution A T intron_variant PACA-AU 4 175202823 175202823 single base substitution A C intron_variant PACA-AU 4 175203053 175203053 single base substitution G T intron_variant PACA-AU 4 175206750 175206750 single base substitution C T upstream_gene_variant PACA-CA 4 175154920 175154920 single base substitution T C downstream_gene_variant PACA-CA 4 175160249 175160249 single base substitution G A 3_prime_UTR_variant PACA-CA 4 175160249 175160249 single base substitution G A downstream_gene_variant PACA-CA 4 175160249 175160249 single base substitution G A missense_variant A182V 545C>T PACA-CA 4 175160249 175160249 single base substitution G A missense_variant A223V 668C>T PACA-CA 4 175160440 175160440 single base substitution A C downstream_gene_variant PACA-CA 4 175160440 175160440 single base substitution A C intron_variant PACA-CA 4 175160965 175160965 single base substitution G A downstream_gene_variant PACA-CA 4 175160965 175160965 single base substitution G A intron_variant PACA-CA 4 175161886 175161886 single base substitution T A downstream_gene_variant PACA-CA 4 175161886 175161886 single base substitution T A intron_variant PACA-CA 4 175163278 175163278 single base substitution A T intron_variant PACA-CA 4 175163279 175163279 single base substitution T G intron_variant PACA-CA 4 175166168 175166168 single base substitution T C intron_variant PACA-CA 4 175170476 175170476 single base substitution C G intron_variant PACA-CA 4 175173078 175173078 single base substitution C T intron_variant PACA-CA 4 175173281 175173281 single base substitution G A intron_variant PACA-CA 4 175178257 175178257 single base substitution C T intron_variant PACA-CA 4 175184458 175184458 single base substitution C T intron_variant PACA-CA 4 175189325 175189325 single base substitution A G intron_variant PACA-CA 4 175190039 175190039 single base substitution C T intron_variant PACA-CA 4 175202303 175202303 single base substitution C T intron_variant PACA-CA 4 175206897 175206905 deletion of <=200bp CGAAAGAAG - upstream_gene_variant PACA-CA 4 175209314 175209314 single base substitution G A upstream_gene_variant PACA-CA 4 175209789 175209790 deletion of <=200bp CA - upstream_gene_variant PAEN-AU 4 175160111 175160111 single base substitution G A downstream_gene_variant PAEN-AU 4 175160111 175160111 single base substitution G A intron_variant PAEN-AU 4 175192559 175192559 single base substitution T C intron_variant PAEN-AU 4 175208974 175208974 single base substitution G A upstream_gene_variant PAEN-IT 4 175175925 175175925 single base substitution C T intron_variant PAEN-IT 4 175180362 175180362 single base substitution C T intron_variant PAEN-IT 4 175192281 175192281 single base substitution C T intron_variant PBCA-DE 4 175158187 175158187 single base substitution T C 3_prime_UTR_variant PBCA-DE 4 175158187 175158187 single base substitution T C downstream_gene_variant PBCA-DE 4 175163401 175163404 deletion of <=200bp ACTT - intron_variant PBCA-DE 4 175168885 175168885 single base substitution C T intron_variant PBCA-DE 4 175173805 175173806 deletion of <=200bp CA - intron_variant PRAD-CA 4 175159927 175159927 single base substitution C T downstream_gene_variant PRAD-CA 4 175159927 175159927 single base substitution C T intron_variant PRAD-CA 4 175159946 175159946 single base substitution G A downstream_gene_variant PRAD-CA 4 175159946 175159946 single base substitution G A intron_variant PRAD-CA 4 175172577 175172577 single base substitution G T intron_variant PRAD-CA 4 175174906 175174906 single base substitution T C intron_variant PRAD-CA 4 175186449 175186449 single base substitution T A intron_variant PRAD-CA 4 175190079 175190079 single base substitution G A intron_variant PRAD-UK 4 175158898 175158898 single base substitution G C downstream_gene_variant PRAD-UK 4 175158898 175158898 single base substitution G C intron_variant PRAD-UK 4 175186267 175186267 single base substitution A G intron_variant PRAD-UK 4 175189068 175189068 single base substitution G A intron_variant PRAD-UK 4 175198767 175198770 deletion of <=200bp CTTT - intron_variant PRAD-UK 4 175203346 175203346 single base substitution G T intron_variant PRAD-UK 4 175209437 175209437 single base substitution A G upstream_gene_variant READ-US 4 175158655 175158655 single base substitution G A 3_prime_UTR_variant READ-US 4 175158655 175158655 single base substitution G A downstream_gene_variant READ-US 4 175158655 175158655 single base substitution G A stop_gained R249* 745C>T READ-US 4 175158655 175158655 single base substitution G A stop_gained R290* 868C>T READ-US 4 175184062 175184062 single base substitution T G exon_variant READ-US 4 175184062 175184062 single base substitution T G missense_variant K61T 182A>C READ-US 4 175184062 175184062 single base substitution T G splice_region_variant RECA-EU 4 175162258 175162258 single base substitution C T 3_prime_UTR_variant RECA-EU 4 175162258 175162258 single base substitution C T downstream_gene_variant RECA-EU 4 175162258 175162258 single base substitution C T missense_variant D149N 445G>A RECA-EU 4 175162258 175162258 single base substitution C T missense_variant D190N 568G>A RECA-EU 4 175164214 175164214 single base substitution G C intron_variant RECA-EU 4 175168161 175168161 single base substitution G C intron_variant RECA-EU 4 175168171 175168171 single base substitution A T intron_variant RECA-EU 4 175170063 175170063 single base substitution C G intron_variant RECA-EU 4 175188597 175188597 single base substitution C G intron_variant RECA-EU 4 175195390 175195390 single base substitution G A intron_variant RECA-EU 4 175205165 175205165 single base substitution C A 5_prime_UTR_variant RECA-EU 4 175205165 175205165 single base substitution C A upstream_gene_variant RECA-EU 4 175210071 175210071 single base substitution T A upstream_gene_variant SKCA-BR 4 175154668 175154668 single base substitution G A downstream_gene_variant SKCA-BR 4 175154900 175154900 single base substitution G A downstream_gene_variant SKCA-BR 4 175155155 175155155 single base substitution G C downstream_gene_variant SKCA-BR 4 175156229 175156229 single base substitution G A downstream_gene_variant SKCA-BR 4 175156377 175156377 single base substitution G C downstream_gene_variant SKCA-BR 4 175156901 175156901 single base substitution G A downstream_gene_variant SKCA-BR 4 175159018 175159018 single base substitution G A downstream_gene_variant SKCA-BR 4 175159018 175159018 single base substitution G A intron_variant SKCA-BR 4 175160548 175160548 single base substitution A T downstream_gene_variant SKCA-BR 4 175160548 175160548 single base substitution A T intron_variant SKCA-BR 4 175161320 175161320 single base substitution G A downstream_gene_variant SKCA-BR 4 175161320 175161320 single base substitution G A intron_variant SKCA-BR 4 175163875 175163875 single base substitution G A intron_variant SKCA-BR 4 175165874 175165874 single base substitution G A intron_variant SKCA-BR 4 175166648 175166648 single base substitution G A intron_variant SKCA-BR 4 175169211 175169211 single base substitution G A intron_variant SKCA-BR 4 175171475 175171475 single base substitution G A intron_variant SKCA-BR 4 175172575 175172575 single base substitution C T intron_variant SKCA-BR 4 175172804 175172804 single base substitution G A intron_variant SKCA-BR 4 175174685 175174685 single base substitution G A intron_variant SKCA-BR 4 175175578 175175578 single base substitution T C intron_variant SKCA-BR 4 175177076 175177076 single base substitution A C intron_variant SKCA-BR 4 175178926 175178926 single base substitution G A intron_variant SKCA-BR 4 175179353 175179353 single base substitution G A intron_variant SKCA-BR 4 175183796 175183796 single base substitution A C intron_variant SKCA-BR 4 175183925 175183925 single base substitution G A exon_variant SKCA-BR 4 175183925 175183925 single base substitution G A missense_variant L107F 319C>T SKCA-BR 4 175183925 175183925 single base substitution G A missense_variant L66F 196C>T SKCA-BR 4 175184915 175184915 single base substitution G A intron_variant SKCA-BR 4 175186387 175186418 deletion of <=200bp ATAAAAGCTTTTTATTTAGGTATTTACCTAAT - intron_variant SKCA-BR 4 175190260 175190260 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 175190260 175190260 single base substitution G A intron_variant SKCA-BR 4 175191997 175191997 single base substitution A C intron_variant SKCA-BR 4 175194484 175194484 insertion of <=200bp - AAAAG intron_variant SKCA-BR 4 175197236 175197236 single base substitution G A intron_variant SKCA-BR 4 175198907 175198907 single base substitution C T intron_variant SKCA-BR 4 175199290 175199290 single base substitution C T intron_variant SKCA-BR 4 175202392 175202392 single base substitution C T intron_variant SKCA-BR 4 175202961 175202961 single base substitution G A intron_variant SKCA-BR 4 175204859 175204859 single base substitution A T 5_prime_UTR_variant SKCA-BR 4 175204859 175204859 single base substitution A T upstream_gene_variant SKCM-US 4 175184040 175184040 single base substitution G A exon_variant SKCM-US 4 175184040 175184040 single base substitution G A intron_variant SKCM-US 4 175184040 175184040 single base substitution G A synonymous_variant F68F 204C>T SKCM-US 4 175184102 175184102 single base substitution G A exon_variant SKCM-US 4 175184102 175184102 single base substitution G A stop_gained Q48* 142C>T STAD-US 4 175160171 175160171 single base substitution A G 3_prime_UTR_variant STAD-US 4 175160171 175160171 single base substitution A G downstream_gene_variant STAD-US 4 175160171 175160171 single base substitution A G missense_variant L208S 623T>C STAD-US 4 175160171 175160171 single base substitution A G missense_variant L249S 746T>C STAD-US 4 175183927 175183927 single base substitution A C exon_variant STAD-US 4 175183927 175183927 single base substitution A C missense_variant L106R 317T>G STAD-US 4 175183927 175183927 single base substitution A C missense_variant L65R 194T>G STAD-US 4 175183955 175183955 single base substitution C T exon_variant STAD-US 4 175183955 175183955 single base substitution C T intron_variant STAD-US 4 175183955 175183955 single base substitution C T missense_variant V97I 289G>A UCEC-US 4 175158594 175158594 single base substitution T C 3_prime_UTR_variant UCEC-US 4 175158594 175158594 single base substitution T C downstream_gene_variant UCEC-US 4 175158594 175158594 single base substitution T C missense_variant N269S 806A>G UCEC-US 4 175158594 175158594 single base substitution T C missense_variant N310S 929A>G UCEC-US 4 175158640 175158640 single base substitution C T 3_prime_UTR_variant UCEC-US 4 175158640 175158640 single base substitution C T downstream_gene_variant UCEC-US 4 175158640 175158640 single base substitution C T missense_variant A254T 760G>A UCEC-US 4 175158640 175158640 single base substitution C T missense_variant A295T 883G>A UCEC-US 4 175158646 175158646 single base substitution G A 3_prime_UTR_variant UCEC-US 4 175158646 175158646 single base substitution G A downstream_gene_variant UCEC-US 4 175158646 175158646 single base substitution G A missense_variant R252C 754C>T UCEC-US 4 175158646 175158646 single base substitution G A missense_variant R293C 877C>T UCEC-US 4 175158655 175158655 single base substitution G A 3_prime_UTR_variant UCEC-US 4 175158655 175158655 single base substitution G A downstream_gene_variant UCEC-US 4 175158655 175158655 single base substitution G A stop_gained R249* 745C>T UCEC-US 4 175158655 175158655 single base substitution G A stop_gained R290* 868C>T UCEC-US 4 175158731 175158731 single base substitution G A 3_prime_UTR_variant UCEC-US 4 175158731 175158731 single base substitution G A downstream_gene_variant UCEC-US 4 175158731 175158731 single base substitution G A synonymous_variant C223C 669C>T UCEC-US 4 175158731 175158731 single base substitution G A synonymous_variant C264C 792C>T UCEC-US 4 175160160 175160160 single base substitution G T 3_prime_UTR_variant UCEC-US 4 175160160 175160160 single base substitution G T downstream_gene_variant UCEC-US 4 175160160 175160160 single base substitution G T missense_variant L212I 634C>A UCEC-US 4 175160160 175160160 single base substitution G T missense_variant L253I 757C>A UCEC-US 4 175160315 175160315 single base substitution G T 3_prime_UTR_variant UCEC-US 4 175160315 175160315 single base substitution G T downstream_gene_variant UCEC-US 4 175160315 175160315 single base substitution G T missense_variant T160K 479C>A UCEC-US 4 175160315 175160315 single base substitution G T missense_variant T201K 602C>A UCEC-US 4 175162308 175162308 single base substitution A C 3_prime_UTR_variant UCEC-US 4 175162308 175162308 single base substitution A C missense_variant F132C 395T>G UCEC-US 4 175162308 175162308 single base substitution A C missense_variant F173C 518T>G UCEC-US 4 175180932 175180932 single base substitution T C exon_variant UCEC-US 4 175180932 175180932 single base substitution T C missense_variant N125S 374A>G UCEC-US 4 175180932 175180932 single base substitution T C missense_variant N84S 251A>G UCEC-US 4 175180934 175180934 single base substitution C A exon_variant UCEC-US 4 175180934 175180934 single base substitution C A missense_variant K124N 372G>T UCEC-US 4 175180934 175180934 single base substitution C A missense_variant K83N 249G>T UCEC-US 4 175184113 175184113 single base substitution C T exon_variant UCEC-US 4 175184113 175184113 single base substitution C T missense_variant R44H 131G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_BICR_041T COSM5441376 c.458G>A p.G153E Substitution - Missense 4:174241217-174241217 - TCGA-BH-A0HX-01 COSM447615 c.141C>A p.V47V Substitution - coding silent 4:174262952-174262952 - C608 COSM4442983 c.641T>C p.L214P Substitution - Missense 4:174239125-174239125 - TCGA-AP-A051-01 COSM1053272 c.792C>T p.C264C Substitution - coding silent 4:174237580-174237580 - TCGA-EJ-5531-01 COSM1131181 c.45A>G p.Q15Q Substitution - coding silent 4:174263048-174263048 - TCGA-AM-5820-01 COSM3696533 c.368A>G p.N123S Substitution - Missense 4:174259787-174259787 - CSCC-44-T COSM4550152 c.493G>A p.D165N Substitution - Missense 4:174241182-174241182 - HCC1599 COSM25294 c.805C>A p.L269I Substitution - Missense 4:174237567-174237567 - BK0028 COSM4186686 c.575G>A p.R192K Substitution - Missense 4:174241100-174241100 - TCGA-G4-6588-01 COSM1428624 c.893_894insA p.N298fs*3 Insertion - Frameshift 4:174237478-174237479 - LP6005409-DNA_A02 COSM4409702 c.656G>A p.R219H Substitution - Missense 4:174239110-174239110 - DLD1 COSM4625264 c.827G>A p.S276N Substitution - Missense 4:174237545-174237545 - PD4102a COSM161021 c.311A>T p.D104V Substitution - Missense 4:174262782-174262782 - TCGA-AX-A0J1-01 COSM1053269 c.883G>A p.A295T Substitution - Missense 4:174237489-174237489 - 260211 COSM3726842 c.458delG p.G153fs*2 Deletion - Frameshift 4:174241217-174241217 - 8665_PT COSM5756455 c.546G>A p.W182* Substitution - Nonsense 4:174241129-174241129 - HCC1599 COSM25294 c.805C>A p.L269I Substitution - Missense 4:174237567-174237567 - TCGA-AA-A010-01 COSM299217 c.575+8C>T p.? Unknown 4:174241092-174241092 - C0089T COSM4155047 c.568G>A p.D190N Substitution - Missense 4:174241107-174241107 - TCGA-D1-A103-01 COSM1053277 c.374A>G p.N125S Substitution - Missense 4:174259781-174259781 - YUNEKI COSM5400865 c.90C>T p.S30S Substitution - coding silent 4:174263003-174263003 - TCGA-D1-A17Q-01 COSM1053274 c.602C>A p.T201K Substitution - Missense 4:174239164-174239164 - TCGA-BR-7707-01 COSM4123475 c.746T>C p.L249S Substitution - Missense 4:174239020-174239020 - HCT116 COSM3336854 c.414G>T p.Q138H Substitution - Missense 4:174259741-174259741 - ZZUFHECRKL-G039T COSM5437770 c.214G>A p.E72K Substitution - Missense 4:174262879-174262879 - HCC1599 COSM25294 c.805C>A p.L269I Substitution - Missense 4:174237567-174237567 - TCGA-BL-A0C8-01 COSM420112 c.880C>T p.R294C Substitution - Missense 4:174237492-174237492 - 587376 COSM1206867 c.646G>T p.E216* Substitution - Nonsense 4:174239120-174239120 - TCGA-AP-A0LM-01 COSM1053279 c.131G>A p.R44H Substitution - Missense 4:174262962-174262962 - 587350 COSM1206866 c.755A>G p.E252G Substitution - Missense 4:174239011-174239011 - 9096_T COSM5038685 c.50_52delAAG p.E17delE Deletion - In frame 4:174263041-174263043 - RKO COSM3336841 c.547A>G p.K183E Substitution - Missense 4:174241128-174241128 - TCGA-AX-A05Z-01 COSM1053275 c.518T>G p.F173C Substitution - Missense 4:174241157-174241157 - HT115 COSM1053271 c.868C>T p.R290* Substitution - Nonsense 4:174237504-174237504 - 8012342 COSM3392772 c.858G>A p.R286R Substitution - coding silent 4:174237514-174237514 - TCGA-CM-6162-01 COSM1428625 c.856delA p.R286fs*19 Deletion - Frameshift 4:174237516-174237516 - TCGA-FS-A1ZK-06 COSM208209 c.204C>T p.F68F Substitution - coding silent 4:174262889-174262889 - PT36 COSM5915291 c.658C>T p.H220Y Substitution - Missense 4:174239108-174239108 - TCGA-28-6450-01 COSM3409169 c.669C>G p.A223A Substitution - coding silent 4:174239097-174239097 - TCGA-EI-6917-01 COSM3428344 c.182A>C p.K61T Substitution - Missense 4:174262911-174262911 - KM12 COSM3336853 c.430C>T p.L144F Substitution - Missense 4:174259725-174259725 - TCGA-BR-8589-01 COSM4123476 c.317T>G p.L106R Substitution - Missense 4:174262776-174262776 - SH-0622 COSM5017727 c.293G>A p.W98* Substitution - Nonsense 4:174262800-174262800 - T2929 COSM4684053 c.158T>C p.I53T Substitution - Missense 4:174262935-174262935 - TCGA-G4-6320-01 COSM3696532 c.375C>T p.N125N Substitution - coding silent 4:174259780-174259780 - T20 COSM4684052 c.851C>G p.S284* Substitution - Nonsense 4:174237521-174237521 - TCGA-46-3765-01 COSM733101 c.752G>T p.R251L Substitution - Missense 4:174239014-174239014 - HX4T COSM1618601 c.125A>G p.N42S Substitution - Missense 4:174262968-174262968 - TCGA-02-0047-01 COSM2148984 c.330G>T p.G110G Substitution - coding silent 4:174259825-174259825 - TCGA-BS-A0UF-01 COSM1053278 c.372G>T p.K124N Substitution - Missense 4:174259783-174259783 - C086 COSM1053271 c.868C>T p.R290* Substitution - Nonsense 4:174237504-174237504 - TCGA-BS-A0UJ-01 COSM1053273 c.757C>A p.L253I Substitution - Missense 4:174239009-174239009 - YULAD COSM5400864 c.657T>G p.R219R Substitution - coding silent 4:174239109-174239109 - TCGA-BR-4292-01 COSM4123477 c.289G>A p.V97I Substitution - Missense 4:174262804-174262804 - TCGA-EE-A2MU-06 COSM3602070 c.142C>T p.Q48* Substitution - Nonsense 4:174262951-174262951 - TCGA-AP-A0LL-01 COSM1053270 c.877C>T p.R293C Substitution - Missense 4:174237495-174237495 - PA285 COSM1163360 c.679C>T p.R227C Substitution - Missense 4:174239087-174239087 - 2293782 COSM4609053 c.392C>A p.S131Y Substitution - Missense 4:174259763-174259763 - TCGA-AG-3731-01 COSM1053271 c.868C>T p.R290* Substitution - Nonsense 4:174237504-174237504 - HCT15 COSM3336860 c.130C>A p.R44S Substitution - Missense 4:174262963-174262963 - 260211 COSM3725700 c.457-5C>T p.? Unknown 4:174241223-174241223 - TCGA-AG-A008-01 COSM289831 c.306G>A p.A102A Substitution - coding silent 4:174262787-174262787 - TCGA-AP-A059-01 COSM1053268 c.929A>G p.N310S Substitution - Missense 4:174237443-174237443 - RK143_C01 COSM3702557 c.343A>G p.T115A Substitution - Missense 4:174259812-174259812 - TCGA-AP-A056-01 COSM1053271 c.868C>T p.R290* Substitution - Nonsense 4:174237504-174237504 - YUPAT COSM1053271 c.868C>T p.R290* Substitution - Nonsense 4:174237504-174237504 - STC246 COSM5060248 c.659A>G p.H220R Substitution - Missense 4:174239107-174239107 - 3N44-VS-3T44 COSM4982288 c.773-1G>C p.? Unknown 4:174237600-174237600 - BRC16 COSM5026246 c.405G>A p.L135L Substitution - coding silent 4:174259750-174259750 - TCGA-B0-5691-01 COSM481067 c.556A>G p.R186G Substitution - Missense 4:174241119-174241119 - 530 COSM3721796 c.258G>A p.L86L Substitution - coding silent 4:174262835-174262835 - TCGA-BS-A0UV-01 COSM1053269 c.883G>A p.A295T Substitution - Missense 4:174237489-174237489 - DLD1 COSM3336860 c.130C>A p.R44S Substitution - Missense 4:174262963-174262963 - TCGA-02-0047 COSM2148984 c.330G>T p.G110G Substitution - coding silent 4:174259825-174259825 - CSCC-41-T COSM4564751 c.141_142CC>TT p.Q48* Substitution - Nonsense 4:174262951-174262952 - 18 COSM5744833 c.869G>A p.R290Q Substitution - Missense 4:174237503-174237503 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.76917 4q34.1 605649

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1-229T>C 4 175184472 PIA C A Missense p.L269I c.805C>A 4 175158718 BRCA C A Missense p.R251L c.752G>T 4 175160165 LUSC C A Synonymous p.G110G c.330G>T 4 175180976 GBM C T Missense p.D140N c.418G>A 4 175180888 STAD C T Missense p.V97I c.289G>A 4 175183955 STAD C T Synonymous p.A102A c.306G>A 4 175183938 COREAD C T Synonymous p.L135L c.405G>A 4 175180901 BRCA C T Synonymous p.S166S c.498G>A 4 175162328 COREAD G A Missense p.A213V c.638C>T 4 175160279 HNSC G A Missense p.R293C c.877C>T 4 175158646 UCEC G A Missense p.R294C c.880C>T 4 175158643 BLCA G A Nonsense p.Q48* c.142C>T 4 175184102 CM G A Synonymous p.F68F c.204C>T 4 175184040 CM G A Synonymous p.F68F c.204C>T 4 175184040 COREAD G C Synonymous p.A223A c.669C>G 4 175160248 GBM G T Synonymous p.I162I c.486C>A 4 175162340 HNSC G T Synonymous p.V47V c.141C>A 4 175184103 BRCA T A Missense p.D104V c.311A>T 4 175183933 BRCA T A Missense p.Q297H c.891A>T 4 175158632 HNSC