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 5 64878975 64878975 + Silent SNP T T A TCGA-OR-A5J3-01A-11D-A29I-10 TCGA-OR-A5J3-10A-01D-A29L-10 g.chr5:64878975T>A c.1461T>A c.(1459-1461)ccT>ccA p.P487P BLCA 5 64859170 64859170 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr5:64859170G>A c.33G>A c.(31-33)caG>caA p.Q11Q BLCA 5 64863366 64863366 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr5:64863366G>C c.223G>C c.(223-225)Gat>Cat p.D75H BLCA 5 64865504 64865504 + Silent SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr5:64865504C>T c.345C>T c.(343-345)ttC>ttT p.F115F BLCA 5 64867842 64867842 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr5:64867842C>T c.698C>T c.(697-699)cCa>cTa p.P233L BLCA 5 64875361 64875361 + Missense_Mutation SNP C C G TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr5:64875361C>G c.1271C>G c.(1270-1272)tCt>tGt p.S424C BRCA 5 64865548 64865548 + Missense_Mutation SNP G G A TCGA-A2-A0YG-01A-21D-A10G-09 TCGA-A2-A0YG-10A-01D-A10G-09 g.chr5:64865548G>A c.389G>A c.(388-390)cGt>cAt p.R130H CESC 5 64867770 64867770 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr5:64867770G>C c.626G>C c.(625-627)cGa>cCa p.R209P COAD 5 64859204 64859205 + Frame_Shift_Ins INS - - A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:64859204_64859205insA c.67_68insA c.(67-69)gaafs p.E23fs COAD 5 64863396 64863396 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:64863396C>T c.253C>T c.(253-255)Cgc>Tgc p.R85C COAD 5 64865547 64865547 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:64865547C>T c.388C>T c.(388-390)Cgt>Tgt p.R130C COAD 5 64867917 64867917 + Missense_Mutation SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:64867917A>G c.773A>G c.(772-774)aAa>aGa p.K258R COAD 5 64872832 64872832 + Missense_Mutation SNP A A G TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr5:64872832A>G c.1096A>G c.(1096-1098)Act>Gct p.T366A COAD 5 64872832 64872832 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:64872832A>G c.1096A>G c.(1096-1098)Act>Gct p.T366A COAD 5 64872834 64872834 + Silent SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:64872834T>C c.1098T>C c.(1096-1098)acT>acC p.T366T COAD 5 64875253 64875253 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:64875253G>A c.1163G>A c.(1162-1164)tGt>tAt p.C388Y COAD 5 64878979 64878979 + Nonsense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr5:64878979C>T c.1465C>T c.(1465-1467)Cga>Tga p.R489* COAD 5 64883155 64883155 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:64883155G>A c.1873G>A c.(1873-1875)Gtc>Atc p.V625I COADREAD 5 64859204 64859205 + Frame_Shift_Ins INS - - A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:64859204_64859205insA c.67_68insA c.(67-69)gaafs p.E23fs COADREAD 5 64859300 64859300 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64859300C>T c.163C>T c.(163-165)Cct>Tct p.P55S COADREAD 5 64863396 64863396 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:64863396C>T c.253C>T c.(253-255)Cgc>Tgc p.R85C COADREAD 5 64865547 64865547 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:64865547C>T c.388C>T c.(388-390)Cgt>Tgt p.R130C COADREAD 5 64867917 64867917 + Missense_Mutation SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:64867917A>G c.773A>G c.(772-774)aAa>aGa p.K258R COADREAD 5 64872832 64872832 + Missense_Mutation SNP A A G TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr5:64872832A>G c.1096A>G c.(1096-1098)Act>Gct p.T366A COADREAD 5 64872832 64872832 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:64872832A>G c.1096A>G c.(1096-1098)Act>Gct p.T366A COADREAD 5 64872834 64872834 + Silent SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:64872834T>C c.1098T>C c.(1096-1098)acT>acC p.T366T COADREAD 5 64875253 64875253 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:64875253G>A c.1163G>A c.(1162-1164)tGt>tAt p.C388Y COADREAD 5 64878979 64878979 + Nonsense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr5:64878979C>T c.1465C>T c.(1465-1467)Cga>Tga p.R489* COADREAD 5 64883155 64883155 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:64883155G>A c.1873G>A c.(1873-1875)Gtc>Atc p.V625I ESCA 5 64875276 64875276 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr5:64875276G>C c.1186G>C c.(1186-1188)Gaa>Caa p.E396Q ESCA 5 64878949 64878949 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr5:64878949A>G c.1435A>G c.(1435-1437)Atg>Gtg p.M479V HNSC 5 64859174 64859174 + Missense_Mutation SNP C C T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 g.chr5:64859174C>T c.37C>T c.(37-39)Cgt>Tgt p.R13C LAML 5 64875362 64875362 + Silent SNP T T G TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 g.chr5:64875362T>G c.1272T>G c.(1270-1272)tcT>tcG p.S424S LIHC 5 64859205 64859205 + Frame_Shift_Del DEL A A - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr5:64859205delA c.68delA c.(67-69)gaafs p.E23fs LIHC 5 64865782 64865782 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr5:64865782delT c.478delT c.(478-480)tttfs p.F160fs LIHC 5 64868003 64868003 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr5:64868003T>C c.859T>C c.(859-861)Tgt>Cgt p.C287R LIHC 5 64868010 64868010 + Nonsense_Mutation SNP C C G TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr5:64868010C>G c.866C>G c.(865-867)tCa>tGa p.S289* LIHC 5 64878960 64878960 + Silent SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr5:64878960T>C c.1446T>C c.(1444-1446)acT>acC p.T482T LUAD 5 64867882 64867882 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr5:64867882G>A c.738G>A c.(736-738)atG>atA p.M246I LUAD 5 64872726 64872726 + Silent SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr5:64872726G>A c.990G>A c.(988-990)caG>caA p.Q330Q LUAD 5 64875260 64875260 + Silent SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr5:64875260G>A c.1170G>A c.(1168-1170)cgG>cgA p.R390R LUAD 5 64881965 64881965 + Missense_Mutation SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 g.chr5:64881965C>T c.1754C>T c.(1753-1755)tCa>tTa p.S585L LUAD 5 64883126 64883126 + Missense_Mutation SNP G G C TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr5:64883126G>C c.1844G>C c.(1843-1845)gGa>gCa p.G615A LUSC 5 64859172 64859172 + Missense_Mutation SNP G G A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr5:64859172G>A c.35G>A c.(34-36)aGa>aAa p.R12K OV 5 64872833 64872833 + Missense_Mutation SNP C C G TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 g.chr5:64872833C>G c.1097C>G c.(1096-1098)aCt>aGt p.T366S PAAD 5 64863418 64863418 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:64863418T>G c.275T>G c.(274-276)gTt>gGt p.V92G PAAD 5 64868000 64868000 + Missense_Mutation SNP G G A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr5:64868000G>A c.856G>A c.(856-858)Gta>Ata p.V286I PRAD 5 64872761 64872761 + Missense_Mutation SNP G G A TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 g.chr5:64872761G>A c.1025G>A c.(1024-1026)cGa>cAa p.R342Q READ 5 64859300 64859300 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64859300C>T c.163C>T c.(163-165)Cct>Tct p.P55S SARC 5 64867822 64867823 + Frame_Shift_Ins INS - - A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr5:64867822_64867823insA c.678_679insA c.(679-681)actfs p.T227fs SKCM 5 64867904 64867904 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr5:64867904C>T c.760C>T c.(760-762)Cct>Tct p.P254S SKCM 5 64867905 64867905 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr5:64867905C>T c.761C>T c.(760-762)cCt>cTt p.P254L SKCM 5 64872830 64872830 + Missense_Mutation SNP A A G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr5:64872830A>G c.1094A>G c.(1093-1095)gAa>gGa p.E365G SKCM 5 64878967 64878967 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr5:64878967G>A c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 64887257 64887257 single base substitution G C downstream_gene_variant BLCA-US 5 64863366 64863366 single base substitution G C 3_prime_UTR_variant BLCA-US 5 64863366 64863366 single base substitution G C 5_prime_UTR_variant BLCA-US 5 64863366 64863366 single base substitution G C exon_variant BLCA-US 5 64863366 64863366 single base substitution G C intron_variant BLCA-US 5 64863366 64863366 single base substitution G C missense_variant D45H 133G>C BLCA-US 5 64863366 64863366 single base substitution G C missense_variant D75H 223G>C BLCA-US 5 64863366 64863366 single base substitution G C upstream_gene_variant BOCA-FR 5 64857951 64857951 single base substitution A G upstream_gene_variant BRCA-EU 5 64854108 64854108 single base substitution G C upstream_gene_variant BRCA-EU 5 64854424 64854424 single base substitution T G upstream_gene_variant BRCA-EU 5 64855291 64855291 single base substitution C G upstream_gene_variant BRCA-EU 5 64855774 64855774 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 64858474 64858474 single base substitution G C upstream_gene_variant BRCA-EU 5 64858777 64858777 single base substitution G C upstream_gene_variant BRCA-EU 5 64862174 64862174 single base substitution T G intron_variant BRCA-EU 5 64862174 64862174 single base substitution T G upstream_gene_variant BRCA-EU 5 64865345 64865345 single base substitution T A downstream_gene_variant BRCA-EU 5 64865345 64865345 single base substitution T A exon_variant BRCA-EU 5 64865345 64865345 single base substitution T A intron_variant BRCA-EU 5 64865345 64865345 single base substitution T A upstream_gene_variant BRCA-EU 5 64865630 64865630 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 64865630 64865630 deletion of <=200bp T - intron_variant BRCA-EU 5 64865630 64865630 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 64866652 64866652 single base substitution A G downstream_gene_variant BRCA-EU 5 64866652 64866652 single base substitution A G intron_variant BRCA-EU 5 64866652 64866652 single base substitution A G upstream_gene_variant BRCA-EU 5 64869439 64869439 single base substitution G A downstream_gene_variant BRCA-EU 5 64869439 64869439 single base substitution G A intron_variant BRCA-EU 5 64869439 64869439 single base substitution G A upstream_gene_variant BRCA-EU 5 64869508 64869508 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 64869508 64869508 deletion of <=200bp T - intron_variant BRCA-EU 5 64869508 64869508 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 64872640 64872640 single base substitution G C downstream_gene_variant BRCA-EU 5 64872640 64872640 single base substitution G C intron_variant BRCA-EU 5 64872640 64872640 single base substitution G C upstream_gene_variant BRCA-EU 5 64874043 64874043 single base substitution A G downstream_gene_variant BRCA-EU 5 64874043 64874043 single base substitution A G intron_variant BRCA-EU 5 64874043 64874043 single base substitution A G upstream_gene_variant BRCA-EU 5 64875112 64875112 single base substitution G C downstream_gene_variant BRCA-EU 5 64875112 64875112 single base substitution G C intron_variant BRCA-EU 5 64875112 64875112 single base substitution G C upstream_gene_variant BRCA-EU 5 64876751 64876751 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 64876751 64876751 deletion of <=200bp T - intron_variant BRCA-EU 5 64876751 64876751 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 64876788 64876788 single base substitution A G downstream_gene_variant BRCA-EU 5 64876788 64876788 single base substitution A G intron_variant BRCA-EU 5 64876788 64876788 single base substitution A G upstream_gene_variant BRCA-EU 5 64878439 64878439 single base substitution G C exon_variant BRCA-EU 5 64878439 64878439 single base substitution G C intron_variant BRCA-EU 5 64880165 64880165 single base substitution G A downstream_gene_variant BRCA-EU 5 64880165 64880165 single base substitution G A intron_variant BRCA-EU 5 64881164 64881175 deletion of <=200bp TAAGATAATGAA - downstream_gene_variant BRCA-EU 5 64881164 64881175 deletion of <=200bp TAAGATAATGAA - intron_variant BRCA-EU 5 64881215 64881215 single base substitution C T downstream_gene_variant BRCA-EU 5 64881215 64881215 single base substitution C T intron_variant BRCA-EU 5 64881957 64881957 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 64881957 64881957 single base substitution C T downstream_gene_variant BRCA-EU 5 64881957 64881957 single base substitution C T exon_variant BRCA-EU 5 64881957 64881957 single base substitution C T synonymous_variant N426N 1278C>T BRCA-EU 5 64881957 64881957 single base substitution C T synonymous_variant N552N 1656C>T BRCA-EU 5 64881957 64881957 single base substitution C T synonymous_variant N582N 1746C>T BRCA-EU 5 64883045 64883045 single base substitution G A downstream_gene_variant BRCA-EU 5 64883045 64883045 single base substitution G A intron_variant BRCA-EU 5 64883583 64883583 single base substitution G C downstream_gene_variant BRCA-EU 5 64883742 64883742 single base substitution T C downstream_gene_variant BRCA-EU 5 64883849 64883849 single base substitution G C downstream_gene_variant BRCA-EU 5 64885492 64885492 single base substitution G A downstream_gene_variant BRCA-EU 5 64887383 64887383 single base substitution T G downstream_gene_variant BRCA-EU 5 64887919 64887919 single base substitution G C downstream_gene_variant BRCA-FR 5 64878439 64878439 single base substitution G C exon_variant BRCA-FR 5 64878439 64878439 single base substitution G C intron_variant BRCA-FR 5 64883583 64883583 single base substitution G C downstream_gene_variant BRCA-KR 5 64863470 64863470 single base substitution G T exon_variant BRCA-KR 5 64863470 64863470 single base substitution G T intron_variant BRCA-KR 5 64863470 64863470 single base substitution G T upstream_gene_variant BRCA-US 5 64865548 64865548 single base substitution G A 3_prime_UTR_variant BRCA-US 5 64865548 64865548 single base substitution G A 5_prime_UTR_variant BRCA-US 5 64865548 64865548 single base substitution G A downstream_gene_variant BRCA-US 5 64865548 64865548 single base substitution G A exon_variant BRCA-US 5 64865548 64865548 single base substitution G A missense_variant R100H 299G>A BRCA-US 5 64865548 64865548 single base substitution G A missense_variant R130H 389G>A BRCA-US 5 64865548 64865548 single base substitution G A missense_variant R34H 101G>A BRCA-US 5 64865548 64865548 single base substitution G A missense_variant R49H 146G>A BRCA-US 5 64865548 64865548 single base substitution G A upstream_gene_variant BTCA-JP 5 64865345 64865345 single base substitution T A downstream_gene_variant BTCA-JP 5 64865345 64865345 single base substitution T A exon_variant BTCA-JP 5 64865345 64865345 single base substitution T A intron_variant BTCA-JP 5 64865345 64865345 single base substitution T A upstream_gene_variant BTCA-JP 5 64886077 64886077 single base substitution C T downstream_gene_variant BTCA-JP 5 64886194 64886194 deletion of <=200bp T - downstream_gene_variant CESC-US 5 64867770 64867770 single base substitution G C 3_prime_UTR_variant CESC-US 5 64867770 64867770 single base substitution G C downstream_gene_variant CESC-US 5 64867770 64867770 single base substitution G C exon_variant CESC-US 5 64867770 64867770 single base substitution G C missense_variant R128P 383G>C CESC-US 5 64867770 64867770 single base substitution G C missense_variant R179P 536G>C CESC-US 5 64867770 64867770 single base substitution G C missense_variant R209P 626G>C CESC-US 5 64867770 64867770 single base substitution G C missense_variant R53P 158G>C CESC-US 5 64867770 64867770 single base substitution G C upstream_gene_variant CLLE-ES 5 64854097 64854097 single base substitution C G upstream_gene_variant COAD-US 5 64859204 64859204 insertion of <=200bp - A 5_prime_UTR_variant COAD-US 5 64859204 64859204 insertion of <=200bp - A exon_variant COAD-US 5 64859204 64859204 insertion of <=200bp - A frameshift_variant E23R? COAD-US 5 64859204 64859204 insertion of <=200bp - A upstream_gene_variant COAD-US 5 64863396 64863396 single base substitution C T 3_prime_UTR_variant COAD-US 5 64863396 64863396 single base substitution C T 5_prime_UTR_variant COAD-US 5 64863396 64863396 single base substitution C T exon_variant COAD-US 5 64863396 64863396 single base substitution C T intron_variant COAD-US 5 64863396 64863396 single base substitution C T missense_variant R4C 10C>T COAD-US 5 64863396 64863396 single base substitution C T missense_variant R55C 163C>T COAD-US 5 64863396 64863396 single base substitution C T missense_variant R85C 253C>T COAD-US 5 64863396 64863396 single base substitution C T upstream_gene_variant COAD-US 5 64881936 64881936 single base substitution A G 3_prime_UTR_variant COAD-US 5 64881936 64881936 single base substitution A G downstream_gene_variant COAD-US 5 64881936 64881936 single base substitution A G exon_variant COAD-US 5 64881936 64881936 single base substitution A G synonymous_variant P419P 1257A>G COAD-US 5 64881936 64881936 single base substitution A G synonymous_variant P545P 1635A>G COAD-US 5 64881936 64881936 single base substitution A G synonymous_variant P575P 1725A>G COCA-CN 5 64857181 64857181 single base substitution G A upstream_gene_variant COCA-CN 5 64862812 64862812 single base substitution A G intron_variant COCA-CN 5 64862812 64862812 single base substitution A G upstream_gene_variant COCA-CN 5 64865346 64865346 single base substitution A T downstream_gene_variant COCA-CN 5 64865346 64865346 single base substitution A T exon_variant COCA-CN 5 64865346 64865346 single base substitution A T intron_variant COCA-CN 5 64865346 64865346 single base substitution A T upstream_gene_variant COCA-CN 5 64867652 64867652 single base substitution C A downstream_gene_variant COCA-CN 5 64867652 64867652 single base substitution C A intron_variant COCA-CN 5 64867652 64867652 single base substitution C A upstream_gene_variant COCA-CN 5 64872843 64872843 single base substitution C T 3_prime_UTR_variant COCA-CN 5 64872843 64872843 single base substitution C T downstream_gene_variant COCA-CN 5 64872843 64872843 single base substitution C T exon_variant COCA-CN 5 64872843 64872843 single base substitution C T synonymous_variant F213F 639C>T COCA-CN 5 64872843 64872843 single base substitution C T synonymous_variant F339F 1017C>T COCA-CN 5 64872843 64872843 single base substitution C T synonymous_variant F369F 1107C>T COCA-CN 5 64872843 64872843 single base substitution C T upstream_gene_variant COCA-CN 5 64872862 64872862 single base substitution C A 3_prime_UTR_variant COCA-CN 5 64872862 64872862 single base substitution C A downstream_gene_variant COCA-CN 5 64872862 64872862 single base substitution C A exon_variant COCA-CN 5 64872862 64872862 single base substitution C A missense_variant L220M 658C>A COCA-CN 5 64872862 64872862 single base substitution C A missense_variant L346M 1036C>A COCA-CN 5 64872862 64872862 single base substitution C A missense_variant L376M 1126C>A COCA-CN 5 64872862 64872862 single base substitution C A upstream_gene_variant COCA-CN 5 64878834 64878834 single base substitution C T exon_variant COCA-CN 5 64878834 64878834 single base substitution C T intron_variant COCA-CN 5 64880820 64880820 single base substitution T G downstream_gene_variant COCA-CN 5 64880820 64880820 single base substitution T G intron_variant COCA-CN 5 64882987 64882987 single base substitution G A downstream_gene_variant COCA-CN 5 64882987 64882987 single base substitution G A intron_variant COCA-CN 5 64887706 64887706 single base substitution G T downstream_gene_variant COCA-CN 5 64887799 64887799 single base substitution T G downstream_gene_variant ESAD-UK 5 64854420 64854420 single base substitution C G upstream_gene_variant ESAD-UK 5 64857968 64857981 deletion of <=200bp ACTAGCTACATTAT - upstream_gene_variant ESAD-UK 5 64858403 64858403 single base substitution A T upstream_gene_variant ESAD-UK 5 64858950 64858950 single base substitution C A upstream_gene_variant ESAD-UK 5 64859046 64859046 single base substitution A C upstream_gene_variant ESAD-UK 5 64859452 64859452 single base substitution G A intron_variant ESAD-UK 5 64859452 64859452 single base substitution G A upstream_gene_variant ESAD-UK 5 64861387 64861387 single base substitution T G intron_variant ESAD-UK 5 64861387 64861387 single base substitution T G upstream_gene_variant ESAD-UK 5 64863604 64863604 single base substitution A G exon_variant ESAD-UK 5 64863604 64863604 single base substitution A G intron_variant ESAD-UK 5 64863604 64863604 single base substitution A G upstream_gene_variant ESAD-UK 5 64863852 64863852 single base substitution A G exon_variant ESAD-UK 5 64863852 64863852 single base substitution A G intron_variant ESAD-UK 5 64863852 64863852 single base substitution A G upstream_gene_variant ESAD-UK 5 64865011 64865011 single base substitution A G downstream_gene_variant ESAD-UK 5 64865011 64865011 single base substitution A G intron_variant ESAD-UK 5 64865011 64865011 single base substitution A G upstream_gene_variant ESAD-UK 5 64865338 64865338 insertion of <=200bp - T downstream_gene_variant ESAD-UK 5 64865338 64865338 insertion of <=200bp - T exon_variant ESAD-UK 5 64865338 64865338 insertion of <=200bp - T intron_variant ESAD-UK 5 64865338 64865338 insertion of <=200bp - TT downstream_gene_variant ESAD-UK 5 64865338 64865338 insertion of <=200bp - TT exon_variant ESAD-UK 5 64865338 64865338 insertion of <=200bp - TT intron_variant ESAD-UK 5 64865338 64865338 insertion of <=200bp - TT upstream_gene_variant ESAD-UK 5 64865338 64865338 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 64865345 64865345 single base substitution T A downstream_gene_variant ESAD-UK 5 64865345 64865345 single base substitution T A exon_variant ESAD-UK 5 64865345 64865345 single base substitution T A intron_variant ESAD-UK 5 64865345 64865345 single base substitution T A upstream_gene_variant ESAD-UK 5 64868178 64868178 single base substitution T C downstream_gene_variant ESAD-UK 5 64868178 64868178 single base substitution T C intron_variant ESAD-UK 5 64868178 64868178 single base substitution T C upstream_gene_variant ESAD-UK 5 64871034 64871034 single base substitution T G downstream_gene_variant ESAD-UK 5 64871034 64871034 single base substitution T G intron_variant ESAD-UK 5 64871034 64871034 single base substitution T G upstream_gene_variant ESAD-UK 5 64871056 64871056 single base substitution C G downstream_gene_variant ESAD-UK 5 64871056 64871056 single base substitution C G intron_variant ESAD-UK 5 64871056 64871056 single base substitution C G upstream_gene_variant ESAD-UK 5 64872661 64872661 single base substitution G C downstream_gene_variant ESAD-UK 5 64872661 64872661 single base substitution G C intron_variant ESAD-UK 5 64872661 64872661 single base substitution G C upstream_gene_variant ESAD-UK 5 64874503 64874503 single base substitution G A downstream_gene_variant ESAD-UK 5 64874503 64874503 single base substitution G A intron_variant ESAD-UK 5 64874503 64874503 single base substitution G A upstream_gene_variant ESAD-UK 5 64875258 64875258 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 64875258 64875258 single base substitution C T downstream_gene_variant ESAD-UK 5 64875258 64875258 single base substitution C T exon_variant ESAD-UK 5 64875258 64875258 single base substitution C T intron_variant ESAD-UK 5 64875258 64875258 single base substitution C T missense_variant R234W 700C>T ESAD-UK 5 64875258 64875258 single base substitution C T missense_variant R360W 1078C>T ESAD-UK 5 64875258 64875258 single base substitution C T missense_variant R390W 1168C>T ESAD-UK 5 64875258 64875258 single base substitution C T upstream_gene_variant ESAD-UK 5 64878573 64878573 deletion of <=200bp T - exon_variant ESAD-UK 5 64878573 64878573 deletion of <=200bp T - intron_variant ESAD-UK 5 64879543 64879543 single base substitution A C downstream_gene_variant ESAD-UK 5 64879543 64879543 single base substitution A C intron_variant ESAD-UK 5 64879603 64879603 single base substitution C T downstream_gene_variant ESAD-UK 5 64879603 64879603 single base substitution C T intron_variant ESAD-UK 5 64884662 64884662 single base substitution A G downstream_gene_variant ESAD-UK 5 64887138 64887138 single base substitution T C downstream_gene_variant GBM-US 5 64887666 64887666 single base substitution A G downstream_gene_variant KIRC-US 5 64859225 64859225 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 5 64859225 64859225 single base substitution A T exon_variant KIRC-US 5 64859225 64859225 single base substitution A T stop_gained R30* 88A>T KIRC-US 5 64859225 64859225 single base substitution A T upstream_gene_variant KIRP-US 5 64867921 64867921 deletion of <=200bp C - 3_prime_UTR_variant KIRP-US 5 64867921 64867921 deletion of <=200bp C - downstream_gene_variant KIRP-US 5 64867921 64867921 deletion of <=200bp C - exon_variant KIRP-US 5 64867921 64867921 deletion of <=200bp C - frameshift_variant F103 KIRP-US 5 64867921 64867921 deletion of <=200bp C - frameshift_variant F178 KIRP-US 5 64867921 64867921 deletion of <=200bp C - frameshift_variant F229 KIRP-US 5 64867921 64867921 deletion of <=200bp C - frameshift_variant F259 KIRP-US 5 64867921 64867921 deletion of <=200bp C - upstream_gene_variant LAML-KR 5 64859223 64859223 single base substitution A G 5_prime_UTR_variant LAML-KR 5 64859223 64859223 single base substitution A G exon_variant LAML-KR 5 64859223 64859223 single base substitution A G missense_variant E29G 86A>G LAML-KR 5 64859223 64859223 single base substitution A G upstream_gene_variant LICA-FR 5 64859187 64859187 single base substitution G A 5_prime_UTR_variant LICA-FR 5 64859187 64859187 single base substitution G A exon_variant LICA-FR 5 64859187 64859187 single base substitution G A missense_variant R17Q 50G>A LICA-FR 5 64859187 64859187 single base substitution G A upstream_gene_variant LICA-FR 5 64864632 64864632 single base substitution T C downstream_gene_variant LICA-FR 5 64864632 64864632 single base substitution T C intron_variant LICA-FR 5 64864632 64864632 single base substitution T C upstream_gene_variant LIHC-US 5 64868003 64868003 single base substitution T C 3_prime_UTR_variant LIHC-US 5 64868003 64868003 single base substitution T C downstream_gene_variant LIHC-US 5 64868003 64868003 single base substitution T C exon_variant LIHC-US 5 64868003 64868003 single base substitution T C missense_variant C131R 391T>C LIHC-US 5 64868003 64868003 single base substitution T C missense_variant C206R 616T>C LIHC-US 5 64868003 64868003 single base substitution T C missense_variant C257R 769T>C LIHC-US 5 64868003 64868003 single base substitution T C missense_variant C287R 859T>C LIHC-US 5 64868003 64868003 single base substitution T C upstream_gene_variant LINC-JP 5 64859782 64859782 single base substitution G C intron_variant LINC-JP 5 64861453 64861453 single base substitution A C intron_variant LINC-JP 5 64861453 64861453 single base substitution A C upstream_gene_variant LINC-JP 5 64867804 64867804 single base substitution A T 3_prime_UTR_variant LINC-JP 5 64867804 64867804 single base substitution A T downstream_gene_variant LINC-JP 5 64867804 64867804 single base substitution A T exon_variant LINC-JP 5 64867804 64867804 single base substitution A T missense_variant K139N 417A>T LINC-JP 5 64867804 64867804 single base substitution A T missense_variant K190N 570A>T LINC-JP 5 64867804 64867804 single base substitution A T missense_variant K220N 660A>T LINC-JP 5 64867804 64867804 single base substitution A T missense_variant K64N 192A>T LINC-JP 5 64867804 64867804 single base substitution A T upstream_gene_variant LINC-JP 5 64882159 64882159 single base substitution A T downstream_gene_variant LINC-JP 5 64882159 64882159 single base substitution A T intron_variant LINC-JP 5 64882870 64882870 single base substitution A C downstream_gene_variant LINC-JP 5 64882870 64882870 single base substitution A C intron_variant LINC-JP 5 64883094 64883094 single base substitution T A 3_prime_UTR_variant LINC-JP 5 64883094 64883094 single base substitution T A downstream_gene_variant LINC-JP 5 64883094 64883094 single base substitution T A exon_variant LINC-JP 5 64883094 64883094 single base substitution T A missense_variant N448K 1344T>A LINC-JP 5 64883094 64883094 single base substitution T A missense_variant N574K 1722T>A LINC-JP 5 64883094 64883094 single base substitution T A missense_variant N604K 1812T>A LINC-JP 5 64883278 64883278 single base substitution T C 3_prime_UTR_variant LINC-JP 5 64883278 64883278 single base substitution T C downstream_gene_variant LINC-JP 5 64884450 64884450 single base substitution C A downstream_gene_variant LINC-JP 5 64886853 64886853 single base substitution A C downstream_gene_variant LINC-JP 5 64887692 64887692 single base substitution A C downstream_gene_variant LIRI-JP 5 64857143 64857143 single base substitution T A upstream_gene_variant LIRI-JP 5 64858849 64858849 single base substitution G C upstream_gene_variant LIRI-JP 5 64859576 64859576 single base substitution A G intron_variant LIRI-JP 5 64859576 64859576 single base substitution A G upstream_gene_variant LIRI-JP 5 64860780 64860780 single base substitution A G intron_variant LIRI-JP 5 64860780 64860780 single base substitution A G upstream_gene_variant LIRI-JP 5 64861871 64861871 single base substitution G A intron_variant LIRI-JP 5 64861871 64861871 single base substitution G A upstream_gene_variant LIRI-JP 5 64862892 64862892 single base substitution A G intron_variant LIRI-JP 5 64862892 64862892 single base substitution A G upstream_gene_variant LIRI-JP 5 64863267 64863267 single base substitution A G intron_variant LIRI-JP 5 64863267 64863267 single base substitution A G upstream_gene_variant LIRI-JP 5 64865382 64865382 deletion of <=200bp T - downstream_gene_variant LIRI-JP 5 64865382 64865382 deletion of <=200bp T - exon_variant LIRI-JP 5 64865382 64865382 deletion of <=200bp T - intron_variant LIRI-JP 5 64865382 64865382 deletion of <=200bp T - upstream_gene_variant LIRI-JP 5 64866159 64866159 single base substitution T G downstream_gene_variant LIRI-JP 5 64866159 64866159 single base substitution T G intron_variant LIRI-JP 5 64866159 64866159 single base substitution T G upstream_gene_variant LIRI-JP 5 64867475 64867475 single base substitution A C downstream_gene_variant LIRI-JP 5 64867475 64867475 single base substitution A C intron_variant LIRI-JP 5 64867475 64867475 single base substitution A C upstream_gene_variant LIRI-JP 5 64870168 64870168 single base substitution A G downstream_gene_variant LIRI-JP 5 64870168 64870168 single base substitution A G intron_variant LIRI-JP 5 64870168 64870168 single base substitution A G upstream_gene_variant LIRI-JP 5 64872674 64872674 single base substitution G T downstream_gene_variant LIRI-JP 5 64872674 64872674 single base substitution G T intron_variant LIRI-JP 5 64872674 64872674 single base substitution G T upstream_gene_variant LIRI-JP 5 64874257 64874257 single base substitution A G downstream_gene_variant LIRI-JP 5 64874257 64874257 single base substitution A G intron_variant LIRI-JP 5 64874257 64874257 single base substitution A G upstream_gene_variant LIRI-JP 5 64874663 64874663 single base substitution A T downstream_gene_variant LIRI-JP 5 64874663 64874663 single base substitution A T intron_variant LIRI-JP 5 64874663 64874663 single base substitution A T upstream_gene_variant LIRI-JP 5 64875101 64875101 single base substitution T G downstream_gene_variant LIRI-JP 5 64875101 64875101 single base substitution T G intron_variant LIRI-JP 5 64875101 64875101 single base substitution T G upstream_gene_variant LIRI-JP 5 64875125 64875125 single base substitution A C downstream_gene_variant LIRI-JP 5 64875125 64875125 single base substitution A C exon_variant LIRI-JP 5 64875125 64875125 single base substitution A C intron_variant LIRI-JP 5 64875125 64875125 single base substitution A C upstream_gene_variant LIRI-JP 5 64875582 64875582 single base substitution A G downstream_gene_variant LIRI-JP 5 64875582 64875582 single base substitution A G intron_variant LIRI-JP 5 64875582 64875582 single base substitution A G upstream_gene_variant LIRI-JP 5 64875860 64875860 single base substitution T G downstream_gene_variant LIRI-JP 5 64875860 64875860 single base substitution T G intron_variant LIRI-JP 5 64875860 64875860 single base substitution T G upstream_gene_variant LIRI-JP 5 64877364 64877364 single base substitution G A downstream_gene_variant LIRI-JP 5 64877364 64877364 single base substitution G A intron_variant LIRI-JP 5 64877364 64877364 single base substitution G A upstream_gene_variant LIRI-JP 5 64878337 64878337 single base substitution A G intron_variant LIRI-JP 5 64878337 64878337 single base substitution A G upstream_gene_variant LIRI-JP 5 64880015 64880015 single base substitution C A downstream_gene_variant LIRI-JP 5 64880015 64880015 single base substitution C A intron_variant LIRI-JP 5 64880731 64880731 single base substitution A C downstream_gene_variant LIRI-JP 5 64880731 64880731 single base substitution A C intron_variant LIRI-JP 5 64881171 64881171 single base substitution A G downstream_gene_variant LIRI-JP 5 64881171 64881171 single base substitution A G intron_variant LIRI-JP 5 64882444 64882445 deletion of <=200bp CT - downstream_gene_variant LIRI-JP 5 64882444 64882445 deletion of <=200bp CT - intron_variant LIRI-JP 5 64883795 64883795 single base substitution G T downstream_gene_variant LIRI-JP 5 64883861 64883861 single base substitution G T downstream_gene_variant LIRI-JP 5 64885115 64885115 single base substitution A C downstream_gene_variant LIRI-JP 5 64888103 64888103 single base substitution A C downstream_gene_variant LUSC-KR 5 64854231 64854231 single base substitution T C upstream_gene_variant LUSC-KR 5 64862229 64862229 single base substitution G C intron_variant LUSC-KR 5 64862229 64862229 single base substitution G C upstream_gene_variant LUSC-KR 5 64865848 64865848 single base substitution A G downstream_gene_variant LUSC-KR 5 64865848 64865848 single base substitution A G intron_variant LUSC-KR 5 64865848 64865848 single base substitution A G upstream_gene_variant LUSC-US 5 64859172 64859172 single base substitution G A 5_prime_UTR_variant LUSC-US 5 64859172 64859172 single base substitution G A exon_variant LUSC-US 5 64859172 64859172 single base substitution G A missense_variant R12K 35G>A LUSC-US 5 64859172 64859172 single base substitution G A upstream_gene_variant MALY-DE 5 64865338 64865338 single base substitution T G downstream_gene_variant MALY-DE 5 64865338 64865338 single base substitution T G exon_variant MALY-DE 5 64865338 64865338 single base substitution T G intron_variant MALY-DE 5 64865338 64865338 single base substitution T G upstream_gene_variant MALY-DE 5 64866162 64866162 single base substitution A C downstream_gene_variant MALY-DE 5 64866162 64866162 single base substitution A C intron_variant MALY-DE 5 64866162 64866162 single base substitution A C upstream_gene_variant MALY-DE 5 64875144 64875144 single base substitution T C downstream_gene_variant MALY-DE 5 64875144 64875144 single base substitution T C exon_variant MALY-DE 5 64875144 64875144 single base substitution T C intron_variant MALY-DE 5 64875144 64875144 single base substitution T C upstream_gene_variant MALY-DE 5 64875146 64875146 single base substitution T C downstream_gene_variant MALY-DE 5 64875146 64875146 single base substitution T C exon_variant MALY-DE 5 64875146 64875146 single base substitution T C intron_variant MALY-DE 5 64875146 64875146 single base substitution T C upstream_gene_variant MALY-DE 5 64875193 64875193 single base substitution G A downstream_gene_variant MALY-DE 5 64875193 64875193 single base substitution G A exon_variant MALY-DE 5 64875193 64875193 single base substitution G A intron_variant MALY-DE 5 64875193 64875193 single base substitution G A upstream_gene_variant MALY-DE 5 64875577 64875577 single base substitution T C downstream_gene_variant MALY-DE 5 64875577 64875577 single base substitution T C intron_variant MALY-DE 5 64875577 64875577 single base substitution T C upstream_gene_variant MALY-DE 5 64875818 64875818 single base substitution T C downstream_gene_variant MALY-DE 5 64875818 64875818 single base substitution T C intron_variant MALY-DE 5 64875818 64875818 single base substitution T C upstream_gene_variant MALY-DE 5 64875828 64875828 single base substitution A T downstream_gene_variant MALY-DE 5 64875828 64875828 single base substitution A T intron_variant MALY-DE 5 64875828 64875828 single base substitution A T upstream_gene_variant MALY-DE 5 64875907 64875907 single base substitution T C downstream_gene_variant MALY-DE 5 64875907 64875907 single base substitution T C intron_variant MALY-DE 5 64875907 64875907 single base substitution T C upstream_gene_variant MALY-DE 5 64876689 64876689 single base substitution T C downstream_gene_variant MALY-DE 5 64876689 64876689 single base substitution T C intron_variant MALY-DE 5 64876689 64876689 single base substitution T C upstream_gene_variant MALY-DE 5 64877411 64877411 single base substitution G A downstream_gene_variant MALY-DE 5 64877411 64877411 single base substitution G A intron_variant MALY-DE 5 64877411 64877411 single base substitution G A upstream_gene_variant MALY-DE 5 64877474 64877474 single base substitution T G downstream_gene_variant MALY-DE 5 64877474 64877474 single base substitution T G intron_variant MALY-DE 5 64877474 64877474 single base substitution T G upstream_gene_variant MALY-DE 5 64877509 64877509 single base substitution C T downstream_gene_variant MALY-DE 5 64877509 64877509 single base substitution C T intron_variant MALY-DE 5 64877509 64877509 single base substitution C T upstream_gene_variant MALY-DE 5 64877648 64877648 single base substitution A G downstream_gene_variant MALY-DE 5 64877648 64877648 single base substitution A G intron_variant MALY-DE 5 64877648 64877648 single base substitution A G upstream_gene_variant MALY-DE 5 64877676 64877676 single base substitution A C downstream_gene_variant MALY-DE 5 64877676 64877676 single base substitution A C intron_variant MALY-DE 5 64877676 64877676 single base substitution A C upstream_gene_variant MALY-DE 5 64877748 64877748 single base substitution T G downstream_gene_variant MALY-DE 5 64877748 64877748 single base substitution T G intron_variant MALY-DE 5 64877748 64877748 single base substitution T G upstream_gene_variant MALY-DE 5 64880290 64880290 single base substitution C T downstream_gene_variant MALY-DE 5 64880290 64880290 single base substitution C T intron_variant MALY-DE 5 64886191 64886191 single base substitution G A downstream_gene_variant MELA-AU 5 64854151 64854151 single base substitution G A upstream_gene_variant MELA-AU 5 64854208 64854208 single base substitution G A upstream_gene_variant MELA-AU 5 64854372 64854372 single base substitution G A upstream_gene_variant MELA-AU 5 64854402 64854402 single base substitution G A upstream_gene_variant MELA-AU 5 64854437 64854437 single base substitution G A upstream_gene_variant MELA-AU 5 64854685 64854685 single base substitution G A upstream_gene_variant MELA-AU 5 64854766 64854766 single base substitution G A upstream_gene_variant MELA-AU 5 64854858 64854858 single base substitution G A upstream_gene_variant MELA-AU 5 64856207 64856207 single base substitution G A upstream_gene_variant MELA-AU 5 64857935 64857935 single base substitution G A upstream_gene_variant MELA-AU 5 64857943 64857943 single base substitution C T upstream_gene_variant MELA-AU 5 64858214 64858214 single base substitution G A upstream_gene_variant MELA-AU 5 64858250 64858250 single base substitution G A upstream_gene_variant MELA-AU 5 64859045 64859045 single base substitution G A upstream_gene_variant MELA-AU 5 64859051 64859051 single base substitution C T upstream_gene_variant MELA-AU 5 64859267 64859269 deletion of <=200bp GAG - 5_prime_UTR_variant MELA-AU 5 64859267 64859269 deletion of <=200bp GAG - exon_variant MELA-AU 5 64859267 64859269 deletion of <=200bp GAG - inframe_deletion E44 MELA-AU 5 64859267 64859269 deletion of <=200bp GAG - inframe_deletion MR1M MELA-AU 5 64859267 64859269 deletion of <=200bp GAG - upstream_gene_variant MELA-AU 5 64860473 64860473 single base substitution C T intron_variant MELA-AU 5 64860473 64860473 single base substitution C T upstream_gene_variant MELA-AU 5 64860513 64860513 single base substitution C T intron_variant MELA-AU 5 64860513 64860513 single base substitution C T upstream_gene_variant MELA-AU 5 64860626 64860627 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 64860626 64860627 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 64861311 64861311 single base substitution T C intron_variant MELA-AU 5 64861311 64861311 single base substitution T C upstream_gene_variant MELA-AU 5 64861857 64861857 single base substitution A G intron_variant MELA-AU 5 64861857 64861857 single base substitution A G upstream_gene_variant MELA-AU 5 64862126 64862126 single base substitution C T intron_variant MELA-AU 5 64862126 64862126 single base substitution C T upstream_gene_variant MELA-AU 5 64862404 64862404 single base substitution A G intron_variant MELA-AU 5 64862404 64862404 single base substitution A G upstream_gene_variant MELA-AU 5 64862552 64862552 single base substitution C T intron_variant MELA-AU 5 64862552 64862552 single base substitution C T upstream_gene_variant MELA-AU 5 64862988 64862988 single base substitution G T intron_variant MELA-AU 5 64862988 64862988 single base substitution G T upstream_gene_variant MELA-AU 5 64863598 64863598 single base substitution C T exon_variant MELA-AU 5 64863598 64863598 single base substitution C T intron_variant MELA-AU 5 64863598 64863598 single base substitution C T upstream_gene_variant MELA-AU 5 64863706 64863706 single base substitution G A exon_variant MELA-AU 5 64863706 64863706 single base substitution G A intron_variant MELA-AU 5 64863706 64863706 single base substitution G A upstream_gene_variant MELA-AU 5 64864155 64864155 single base substitution C T downstream_gene_variant MELA-AU 5 64864155 64864155 single base substitution C T intron_variant MELA-AU 5 64864155 64864155 single base substitution C T upstream_gene_variant MELA-AU 5 64864852 64864852 single base substitution C T downstream_gene_variant MELA-AU 5 64864852 64864852 single base substitution C T intron_variant MELA-AU 5 64864852 64864852 single base substitution C T upstream_gene_variant MELA-AU 5 64865356 64865356 single base substitution C T downstream_gene_variant MELA-AU 5 64865356 64865356 single base substitution C T exon_variant MELA-AU 5 64865356 64865356 single base substitution C T intron_variant MELA-AU 5 64865356 64865356 single base substitution C T upstream_gene_variant MELA-AU 5 64865413 64865413 single base substitution C T downstream_gene_variant MELA-AU 5 64865413 64865413 single base substitution C T exon_variant MELA-AU 5 64865413 64865413 single base substitution C T intron_variant MELA-AU 5 64865413 64865413 single base substitution C T upstream_gene_variant MELA-AU 5 64865666 64865666 single base substitution T C downstream_gene_variant MELA-AU 5 64865666 64865666 single base substitution T C intron_variant MELA-AU 5 64865666 64865666 single base substitution T C upstream_gene_variant MELA-AU 5 64865708 64865708 single base substitution T C 3_prime_UTR_variant MELA-AU 5 64865708 64865708 single base substitution T C 5_prime_UTR_variant MELA-AU 5 64865708 64865708 single base substitution T C downstream_gene_variant MELA-AU 5 64865708 64865708 single base substitution T C exon_variant MELA-AU 5 64865708 64865708 single base substitution T C missense_variant V105A 314T>C MELA-AU 5 64865708 64865708 single base substitution T C missense_variant V135A 404T>C MELA-AU 5 64865708 64865708 single base substitution T C missense_variant V39A 116T>C MELA-AU 5 64865708 64865708 single base substitution T C missense_variant V54A 161T>C MELA-AU 5 64865708 64865708 single base substitution T C upstream_gene_variant MELA-AU 5 64866535 64866535 single base substitution C T downstream_gene_variant MELA-AU 5 64866535 64866535 single base substitution C T intron_variant MELA-AU 5 64866535 64866535 single base substitution C T upstream_gene_variant MELA-AU 5 64866827 64866827 single base substitution C T downstream_gene_variant MELA-AU 5 64866827 64866827 single base substitution C T intron_variant MELA-AU 5 64866827 64866827 single base substitution C T upstream_gene_variant MELA-AU 5 64867000 64867000 single base substitution G A downstream_gene_variant MELA-AU 5 64867000 64867000 single base substitution G A intron_variant MELA-AU 5 64867000 64867000 single base substitution G A upstream_gene_variant MELA-AU 5 64868745 64868745 single base substitution C T downstream_gene_variant MELA-AU 5 64868745 64868745 single base substitution C T intron_variant MELA-AU 5 64868745 64868745 single base substitution C T upstream_gene_variant MELA-AU 5 64869430 64869430 single base substitution G C downstream_gene_variant MELA-AU 5 64869430 64869430 single base substitution G C intron_variant MELA-AU 5 64869430 64869430 single base substitution G C upstream_gene_variant MELA-AU 5 64869480 64869480 single base substitution T A downstream_gene_variant MELA-AU 5 64869480 64869480 single base substitution T A intron_variant MELA-AU 5 64869480 64869480 single base substitution T A upstream_gene_variant MELA-AU 5 64872425 64872425 single base substitution G A downstream_gene_variant MELA-AU 5 64872425 64872425 single base substitution G A intron_variant MELA-AU 5 64872425 64872425 single base substitution G A upstream_gene_variant MELA-AU 5 64873211 64873211 single base substitution G T downstream_gene_variant MELA-AU 5 64873211 64873211 single base substitution G T intron_variant MELA-AU 5 64873211 64873211 single base substitution G T upstream_gene_variant MELA-AU 5 64874624 64874624 single base substitution C T downstream_gene_variant MELA-AU 5 64874624 64874624 single base substitution C T intron_variant MELA-AU 5 64874624 64874624 single base substitution C T upstream_gene_variant MELA-AU 5 64874626 64874626 single base substitution T C downstream_gene_variant MELA-AU 5 64874626 64874626 single base substitution T C intron_variant MELA-AU 5 64874626 64874626 single base substitution T C upstream_gene_variant MELA-AU 5 64875523 64875523 single base substitution G A downstream_gene_variant MELA-AU 5 64875523 64875523 single base substitution G A intron_variant MELA-AU 5 64875523 64875523 single base substitution G A upstream_gene_variant MELA-AU 5 64878574 64878574 single base substitution G A exon_variant MELA-AU 5 64878574 64878574 single base substitution G A intron_variant MELA-AU 5 64878606 64878606 single base substitution G A exon_variant MELA-AU 5 64878606 64878606 single base substitution G A intron_variant MELA-AU 5 64879241 64879241 single base substitution C T downstream_gene_variant MELA-AU 5 64879241 64879241 single base substitution C T intron_variant MELA-AU 5 64881207 64881207 single base substitution C T downstream_gene_variant MELA-AU 5 64881207 64881207 single base substitution C T intron_variant MELA-AU 5 64881923 64881923 single base substitution G A 3_prime_UTR_variant MELA-AU 5 64881923 64881923 single base substitution G A downstream_gene_variant MELA-AU 5 64881923 64881923 single base substitution G A exon_variant MELA-AU 5 64881923 64881923 single base substitution G A missense_variant R415Q 1244G>A MELA-AU 5 64881923 64881923 single base substitution G A missense_variant R541Q 1622G>A MELA-AU 5 64881923 64881923 single base substitution G A missense_variant R571Q 1712G>A MELA-AU 5 64881996 64881997 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 64881996 64881997 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 64881996 64881997 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 5 64881996 64881997 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant TV439TI MELA-AU 5 64881996 64881997 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant TV565TI MELA-AU 5 64881996 64881997 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant TV595TI MELA-AU 5 64883518 64883518 single base substitution C T downstream_gene_variant MELA-AU 5 64884921 64884921 single base substitution C T downstream_gene_variant MELA-AU 5 64885229 64885229 single base substitution G A downstream_gene_variant MELA-AU 5 64886181 64886181 single base substitution A T downstream_gene_variant MELA-AU 5 64886913 64886913 single base substitution T C downstream_gene_variant MELA-AU 5 64887229 64887229 single base substitution T C downstream_gene_variant MELA-AU 5 64887455 64887455 single base substitution C T downstream_gene_variant ORCA-IN 5 64862009 64862009 single base substitution G C intron_variant ORCA-IN 5 64862009 64862009 single base substitution G C upstream_gene_variant ORCA-IN 5 64866542 64866542 single base substitution C A downstream_gene_variant ORCA-IN 5 64866542 64866542 single base substitution C A intron_variant ORCA-IN 5 64866542 64866542 single base substitution C A upstream_gene_variant ORCA-IN 5 64875619 64875619 single base substitution T A downstream_gene_variant ORCA-IN 5 64875619 64875619 single base substitution T A intron_variant ORCA-IN 5 64875619 64875619 single base substitution T A upstream_gene_variant ORCA-IN 5 64882395 64882395 single base substitution G A downstream_gene_variant ORCA-IN 5 64882395 64882395 single base substitution G A intron_variant OV-AU 5 64858974 64858974 single base substitution C A upstream_gene_variant OV-AU 5 64866596 64866596 single base substitution A T downstream_gene_variant OV-AU 5 64866596 64866596 single base substitution A T intron_variant OV-AU 5 64866596 64866596 single base substitution A T upstream_gene_variant OV-AU 5 64876401 64876401 single base substitution C T downstream_gene_variant OV-AU 5 64876401 64876401 single base substitution C T intron_variant OV-AU 5 64876401 64876401 single base substitution C T upstream_gene_variant PACA-AU 5 64874626 64874626 single base substitution T C downstream_gene_variant PACA-AU 5 64874626 64874626 single base substitution T C intron_variant PACA-AU 5 64874626 64874626 single base substitution T C upstream_gene_variant PACA-AU 5 64874633 64874633 single base substitution G A downstream_gene_variant PACA-AU 5 64874633 64874633 single base substitution G A intron_variant PACA-AU 5 64874633 64874633 single base substitution G A upstream_gene_variant PACA-AU 5 64883036 64883036 single base substitution G T downstream_gene_variant PACA-AU 5 64883036 64883036 single base substitution G T intron_variant PACA-AU 5 64883981 64883981 deletion of <=200bp T - downstream_gene_variant PACA-AU 5 64883986 64883986 single base substitution A G downstream_gene_variant PACA-AU 5 64886643 64886643 single base substitution C A downstream_gene_variant PACA-CA 5 64854242 64854242 single base substitution T A upstream_gene_variant PACA-CA 5 64854243 64854243 single base substitution C A upstream_gene_variant PACA-CA 5 64854279 64854279 single base substitution G C upstream_gene_variant PACA-CA 5 64856338 64856338 single base substitution T C upstream_gene_variant PACA-CA 5 64857726 64857726 single base substitution T C upstream_gene_variant PACA-CA 5 64859306 64859306 single base substitution G C 5_prime_UTR_variant PACA-CA 5 64859306 64859306 single base substitution G C exon_variant PACA-CA 5 64859306 64859306 single base substitution G C missense_variant E57Q 169G>C PACA-CA 5 64859306 64859306 single base substitution G C missense_variant W14C 42G>C PACA-CA 5 64859306 64859306 single base substitution G C upstream_gene_variant PACA-CA 5 64861185 64861185 single base substitution C T intron_variant PACA-CA 5 64861185 64861185 single base substitution C T upstream_gene_variant PACA-CA 5 64863762 64863763 deletion of <=200bp GT - exon_variant PACA-CA 5 64863762 64863763 deletion of <=200bp GT - intron_variant PACA-CA 5 64863762 64863763 deletion of <=200bp GT - upstream_gene_variant PACA-CA 5 64868485 64868485 single base substitution A G downstream_gene_variant PACA-CA 5 64868485 64868485 single base substitution A G intron_variant PACA-CA 5 64868485 64868485 single base substitution A G upstream_gene_variant PACA-CA 5 64874128 64874128 single base substitution T A downstream_gene_variant PACA-CA 5 64874128 64874128 single base substitution T A intron_variant PACA-CA 5 64874128 64874128 single base substitution T A upstream_gene_variant PACA-CA 5 64874654 64874654 single base substitution T A downstream_gene_variant PACA-CA 5 64874654 64874654 single base substitution T A intron_variant PACA-CA 5 64874654 64874654 single base substitution T A upstream_gene_variant PACA-CA 5 64879594 64879594 single base substitution G A downstream_gene_variant PACA-CA 5 64879594 64879594 single base substitution G A intron_variant PAEN-AU 5 64880717 64880717 single base substitution C A downstream_gene_variant PAEN-AU 5 64880717 64880717 single base substitution C A intron_variant PAEN-AU 5 64882971 64882971 single base substitution T C downstream_gene_variant PAEN-AU 5 64882971 64882971 single base substitution T C intron_variant PAEN-IT 5 64876561 64876561 single base substitution G A downstream_gene_variant PAEN-IT 5 64876561 64876561 single base substitution G A intron_variant PAEN-IT 5 64876561 64876561 single base substitution G A upstream_gene_variant PBCA-DE 5 64856738 64856738 deletion of <=200bp A - upstream_gene_variant PBCA-DE 5 64860036 64860036 single base substitution G A intron_variant PBCA-DE 5 64862798 64862798 single base substitution G A intron_variant PBCA-DE 5 64862798 64862798 single base substitution G A upstream_gene_variant PBCA-DE 5 64870317 64870317 single base substitution C T downstream_gene_variant PBCA-DE 5 64870317 64870317 single base substitution C T intron_variant PBCA-DE 5 64870317 64870317 single base substitution C T upstream_gene_variant PBCA-DE 5 64878526 64878547 deletion of <=200bp GGCATGTTAGGCCTTACTAGAA - exon_variant PBCA-DE 5 64878526 64878547 deletion of <=200bp GGCATGTTAGGCCTTACTAGAA - intron_variant PBCA-DE 5 64887915 64887915 single base substitution T G downstream_gene_variant PRAD-CA 5 64874624 64874624 single base substitution C T downstream_gene_variant PRAD-CA 5 64874624 64874624 single base substitution C T intron_variant PRAD-CA 5 64874624 64874624 single base substitution C T upstream_gene_variant PRAD-CA 5 64880717 64880717 single base substitution C A downstream_gene_variant PRAD-CA 5 64880717 64880717 single base substitution C A intron_variant PRAD-CA 5 64881797 64881797 single base substitution T C downstream_gene_variant PRAD-CA 5 64881797 64881797 single base substitution T C intron_variant PRAD-UK 5 64864431 64864431 deletion of <=200bp A - downstream_gene_variant PRAD-UK 5 64864431 64864431 deletion of <=200bp A - intron_variant PRAD-UK 5 64864431 64864431 deletion of <=200bp A - upstream_gene_variant PRAD-UK 5 64867029 64867029 single base substitution T C downstream_gene_variant PRAD-UK 5 64867029 64867029 single base substitution T C intron_variant PRAD-UK 5 64867029 64867029 single base substitution T C upstream_gene_variant PRAD-UK 5 64868137 64868137 single base substitution G A downstream_gene_variant PRAD-UK 5 64868137 64868137 single base substitution G A intron_variant PRAD-UK 5 64868137 64868137 single base substitution G A upstream_gene_variant PRAD-UK 5 64884370 64884370 single base substitution G A downstream_gene_variant PRAD-US 5 64872761 64872761 single base substitution G A 3_prime_UTR_variant PRAD-US 5 64872761 64872761 single base substitution G A downstream_gene_variant PRAD-US 5 64872761 64872761 single base substitution G A exon_variant PRAD-US 5 64872761 64872761 single base substitution G A missense_variant R186Q 557G>A PRAD-US 5 64872761 64872761 single base substitution G A missense_variant R312Q 935G>A PRAD-US 5 64872761 64872761 single base substitution G A missense_variant R342Q 1025G>A PRAD-US 5 64872761 64872761 single base substitution G A upstream_gene_variant RECA-EU 5 64857355 64857355 single base substitution T C upstream_gene_variant RECA-EU 5 64866907 64866907 single base substitution T G downstream_gene_variant RECA-EU 5 64866907 64866907 single base substitution T G intron_variant RECA-EU 5 64866907 64866907 single base substitution T G upstream_gene_variant RECA-EU 5 64867631 64867631 single base substitution C G downstream_gene_variant RECA-EU 5 64867631 64867631 single base substitution C G intron_variant RECA-EU 5 64867631 64867631 single base substitution C G upstream_gene_variant RECA-EU 5 64879793 64879793 single base substitution A T downstream_gene_variant RECA-EU 5 64879793 64879793 single base substitution A T intron_variant RECA-EU 5 64888109 64888109 single base substitution G C downstream_gene_variant SKCA-BR 5 64856230 64856230 single base substitution A G upstream_gene_variant SKCA-BR 5 64861634 64861636 deletion of <=200bp CAA - intron_variant SKCA-BR 5 64861634 64861636 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 5 64863484 64863484 insertion of <=200bp - TA exon_variant SKCA-BR 5 64863484 64863484 insertion of <=200bp - TA intron_variant SKCA-BR 5 64863484 64863484 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 5 64866643 64866643 single base substitution C T downstream_gene_variant SKCA-BR 5 64866643 64866643 single base substitution C T intron_variant SKCA-BR 5 64866643 64866643 single base substitution C T upstream_gene_variant SKCA-BR 5 64868045 64868045 single base substitution G T 3_prime_UTR_variant SKCA-BR 5 64868045 64868045 single base substitution G T downstream_gene_variant SKCA-BR 5 64868045 64868045 single base substitution G T exon_variant SKCA-BR 5 64868045 64868045 single base substitution G T missense_variant D145Y 433G>T SKCA-BR 5 64868045 64868045 single base substitution G T missense_variant D220Y 658G>T SKCA-BR 5 64868045 64868045 single base substitution G T missense_variant D271Y 811G>T SKCA-BR 5 64868045 64868045 single base substitution G T missense_variant D301Y 901G>T SKCA-BR 5 64868045 64868045 single base substitution G T upstream_gene_variant SKCA-BR 5 64869698 64869698 single base substitution G A downstream_gene_variant SKCA-BR 5 64869698 64869698 single base substitution G A intron_variant SKCA-BR 5 64869698 64869698 single base substitution G A upstream_gene_variant SKCA-BR 5 64870533 64870533 single base substitution A C downstream_gene_variant SKCA-BR 5 64870533 64870533 single base substitution A C intron_variant SKCA-BR 5 64870533 64870533 single base substitution A C upstream_gene_variant SKCA-BR 5 64872200 64872202 deletion of <=200bp ATT - downstream_gene_variant SKCA-BR 5 64872200 64872202 deletion of <=200bp ATT - intron_variant SKCA-BR 5 64872200 64872202 deletion of <=200bp ATT - upstream_gene_variant SKCA-BR 5 64874578 64874602 deletion of <=200bp CATATATGTGTATATATATATACAT - downstream_gene_variant SKCA-BR 5 64874578 64874602 deletion of <=200bp CATATATGTGTATATATATATACAT - intron_variant SKCA-BR 5 64874578 64874602 deletion of <=200bp CATATATGTGTATATATATATACAT - upstream_gene_variant SKCA-BR 5 64874602 64874602 single base substitution T C downstream_gene_variant SKCA-BR 5 64874602 64874602 single base substitution T C intron_variant SKCA-BR 5 64874602 64874602 single base substitution T C upstream_gene_variant SKCA-BR 5 64874624 64874624 single base substitution C T downstream_gene_variant SKCA-BR 5 64874624 64874624 single base substitution C T intron_variant SKCA-BR 5 64874624 64874624 single base substitution C T upstream_gene_variant SKCA-BR 5 64879862 64879862 single base substitution A G downstream_gene_variant SKCA-BR 5 64879862 64879862 single base substitution A G intron_variant SKCM-US 5 64868010 64868010 single base substitution C T 3_prime_UTR_variant SKCM-US 5 64868010 64868010 single base substitution C T downstream_gene_variant SKCM-US 5 64868010 64868010 single base substitution C T exon_variant SKCM-US 5 64868010 64868010 single base substitution C T missense_variant S133L 398C>T SKCM-US 5 64868010 64868010 single base substitution C T missense_variant S208L 623C>T SKCM-US 5 64868010 64868010 single base substitution C T missense_variant S259L 776C>T SKCM-US 5 64868010 64868010 single base substitution C T missense_variant S289L 866C>T SKCM-US 5 64868010 64868010 single base substitution C T upstream_gene_variant SKCM-US 5 64872830 64872830 single base substitution A G 3_prime_UTR_variant SKCM-US 5 64872830 64872830 single base substitution A G downstream_gene_variant SKCM-US 5 64872830 64872830 single base substitution A G exon_variant SKCM-US 5 64872830 64872830 single base substitution A G missense_variant E209G 626A>G SKCM-US 5 64872830 64872830 single base substitution A G missense_variant E335G 1004A>G SKCM-US 5 64872830 64872830 single base substitution A G missense_variant E365G 1094A>G SKCM-US 5 64872830 64872830 single base substitution A G upstream_gene_variant SKCM-US 5 64878967 64878967 single base substitution G A 3_prime_UTR_variant SKCM-US 5 64878967 64878967 single base substitution G A downstream_gene_variant SKCM-US 5 64878967 64878967 single base substitution G A exon_variant SKCM-US 5 64878967 64878967 single base substitution G A missense_variant E329K 985G>A SKCM-US 5 64878967 64878967 single base substitution G A missense_variant E455K 1363G>A SKCM-US 5 64878967 64878967 single base substitution G A missense_variant E485K 1453G>A STAD-US 5 64865507 64865507 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 5 64865507 64865507 insertion of <=200bp - A 5_prime_UTR_variant STAD-US 5 64865507 64865507 insertion of <=200bp - A downstream_gene_variant STAD-US 5 64865507 64865507 insertion of <=200bp - A exon_variant STAD-US 5 64865507 64865507 insertion of <=200bp - A frameshift_variant W116*? STAD-US 5 64865507 64865507 insertion of <=200bp - A frameshift_variant W20*? STAD-US 5 64865507 64865507 insertion of <=200bp - A frameshift_variant W35*? STAD-US 5 64865507 64865507 insertion of <=200bp - A frameshift_variant W86*? STAD-US 5 64865507 64865507 insertion of <=200bp - A upstream_gene_variant STAD-US 5 64865507 64865507 single base substitution G A 3_prime_UTR_variant STAD-US 5 64865507 64865507 single base substitution G A 5_prime_UTR_variant STAD-US 5 64865507 64865507 single base substitution G A downstream_gene_variant STAD-US 5 64865507 64865507 single base substitution G A exon_variant STAD-US 5 64865507 64865507 single base substitution G A stop_gained W116* 348G>A STAD-US 5 64865507 64865507 single base substitution G A stop_gained W20* 60G>A STAD-US 5 64865507 64865507 single base substitution G A stop_gained W35* 105G>A STAD-US 5 64865507 64865507 single base substitution G A stop_gained W86* 258G>A STAD-US 5 64865507 64865507 single base substitution G A upstream_gene_variant STAD-US 5 64865508 64865508 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 5 64865508 64865508 insertion of <=200bp - A 5_prime_UTR_variant STAD-US 5 64865508 64865508 insertion of <=200bp - A downstream_gene_variant STAD-US 5 64865508 64865508 insertion of <=200bp - A exon_variant STAD-US 5 64865508 64865508 insertion of <=200bp - A frameshift_variant K117K? STAD-US 5 64865508 64865508 insertion of <=200bp - A frameshift_variant K21K? STAD-US 5 64865508 64865508 insertion of <=200bp - A frameshift_variant K36K? STAD-US 5 64865508 64865508 insertion of <=200bp - A frameshift_variant K87K? STAD-US 5 64865508 64865508 insertion of <=200bp - A upstream_gene_variant STAD-US 5 64867672 64867672 single base substitution T C 3_prime_UTR_variant STAD-US 5 64867672 64867672 single base substitution T C downstream_gene_variant STAD-US 5 64867672 64867672 single base substitution T C exon_variant STAD-US 5 64867672 64867672 single base substitution T C synonymous_variant F146F 438T>C STAD-US 5 64867672 64867672 single base substitution T C synonymous_variant F176F 528T>C STAD-US 5 64867672 64867672 single base substitution T C synonymous_variant F20F 60T>C STAD-US 5 64867672 64867672 single base substitution T C synonymous_variant F80F 240T>C STAD-US 5 64867672 64867672 single base substitution T C synonymous_variant F95F 285T>C STAD-US 5 64867672 64867672 single base substitution T C upstream_gene_variant STAD-US 5 64867925 64867925 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 5 64867925 64867925 insertion of <=200bp - A downstream_gene_variant STAD-US 5 64867925 64867925 insertion of <=200bp - A exon_variant STAD-US 5 64867925 64867925 insertion of <=200bp - A frameshift_variant K105K? STAD-US 5 64867925 64867925 insertion of <=200bp - A frameshift_variant K180K? STAD-US 5 64867925 64867925 insertion of <=200bp - A frameshift_variant K231K? STAD-US 5 64867925 64867925 insertion of <=200bp - A frameshift_variant K261K? STAD-US 5 64867925 64867925 insertion of <=200bp - A upstream_gene_variant STAD-US 5 64879030 64879030 single base substitution A G 3_prime_UTR_variant STAD-US 5 64879030 64879030 single base substitution A G downstream_gene_variant STAD-US 5 64879030 64879030 single base substitution A G exon_variant STAD-US 5 64879030 64879030 single base substitution A G missense_variant K350E 1048A>G STAD-US 5 64879030 64879030 single base substitution A G missense_variant K476E 1426A>G STAD-US 5 64879030 64879030 single base substitution A G missense_variant K506E 1516A>G STAD-US 5 64881883 64881883 single base substitution T C 3_prime_UTR_variant STAD-US 5 64881883 64881883 single base substitution T C downstream_gene_variant STAD-US 5 64881883 64881883 single base substitution T C exon_variant STAD-US 5 64881883 64881883 single base substitution T C missense_variant W402R 1204T>C STAD-US 5 64881883 64881883 single base substitution T C missense_variant W528R 1582T>C STAD-US 5 64881883 64881883 single base substitution T C missense_variant W558R 1672T>C STAD-US 5 64881889 64881889 single base substitution G T 3_prime_UTR_variant STAD-US 5 64881889 64881889 single base substitution G T downstream_gene_variant STAD-US 5 64881889 64881889 single base substitution G T exon_variant STAD-US 5 64881889 64881889 single base substitution G T stop_gained G404* 1210G>T STAD-US 5 64881889 64881889 single base substitution G T stop_gained G530* 1588G>T STAD-US 5 64881889 64881889 single base substitution G T stop_gained G560* 1678G>T STAD-US 5 64883133 64883133 single base substitution A G 3_prime_UTR_variant STAD-US 5 64883133 64883133 single base substitution A G downstream_gene_variant STAD-US 5 64883133 64883133 single base substitution A G synonymous_variant E461E 1383A>G STAD-US 5 64883133 64883133 single base substitution A G synonymous_variant E587E 1761A>G STAD-US 5 64883133 64883133 single base substitution A G synonymous_variant E617E 1851A>G STAD-US 5 64887740 64887740 single base substitution A G downstream_gene_variant UCEC-US 5 64863428 64863428 single base substitution T C 3_prime_UTR_variant UCEC-US 5 64863428 64863428 single base substitution T C 5_prime_UTR_variant UCEC-US 5 64863428 64863428 single base substitution T C exon_variant UCEC-US 5 64863428 64863428 single base substitution T C intron_variant UCEC-US 5 64863428 64863428 single base substitution T C synonymous_variant H14H 42T>C UCEC-US 5 64863428 64863428 single base substitution T C synonymous_variant H65H 195T>C UCEC-US 5 64863428 64863428 single base substitution T C synonymous_variant H95H 285T>C UCEC-US 5 64863428 64863428 single base substitution T C upstream_gene_variant UCEC-US 5 64872779 64872779 single base substitution G A 3_prime_UTR_variant UCEC-US 5 64872779 64872779 single base substitution G A downstream_gene_variant UCEC-US 5 64872779 64872779 single base substitution G A exon_variant UCEC-US 5 64872779 64872779 single base substitution G A missense_variant R192H 575G>A UCEC-US 5 64872779 64872779 single base substitution G A missense_variant R318H 953G>A UCEC-US 5 64872779 64872779 single base substitution G A missense_variant R348H 1043G>A UCEC-US 5 64872779 64872779 single base substitution G A upstream_gene_variant UCEC-US 5 64872843 64872843 single base substitution C T 3_prime_UTR_variant UCEC-US 5 64872843 64872843 single base substitution C T downstream_gene_variant UCEC-US 5 64872843 64872843 single base substitution C T exon_variant UCEC-US 5 64872843 64872843 single base substitution C T synonymous_variant F213F 639C>T UCEC-US 5 64872843 64872843 single base substitution C T synonymous_variant F339F 1017C>T UCEC-US 5 64872843 64872843 single base substitution C T synonymous_variant F369F 1107C>T UCEC-US 5 64872843 64872843 single base substitution C T upstream_gene_variant UCEC-US 5 64875349 64875349 single base substitution A T 3_prime_UTR_variant UCEC-US 5 64875349 64875349 single base substitution A T downstream_gene_variant UCEC-US 5 64875349 64875349 single base substitution A T exon_variant UCEC-US 5 64875349 64875349 single base substitution A T missense_variant E264V 791A>T UCEC-US 5 64875349 64875349 single base substitution A T missense_variant E390V 1169A>T UCEC-US 5 64875349 64875349 single base substitution A T missense_variant E420V 1259A>T UCEC-US 5 64875349 64875349 single base substitution A T upstream_gene_variant UCEC-US 5 64878886 64878886 single base substitution G T 3_prime_UTR_variant UCEC-US 5 64878886 64878886 single base substitution G T exon_variant UCEC-US 5 64878886 64878886 single base substitution G T missense_variant D302Y 904G>T UCEC-US 5 64878886 64878886 single base substitution G T missense_variant D428Y 1282G>T UCEC-US 5 64878886 64878886 single base substitution G T missense_variant D458Y 1372G>T UCEC-US 5 64880902 64880902 single base substitution A G 3_prime_UTR_variant UCEC-US 5 64880902 64880902 single base substitution A G downstream_gene_variant UCEC-US 5 64880902 64880902 single base substitution A G exon_variant UCEC-US 5 64880902 64880902 single base substitution A G missense_variant T376A 1126A>G UCEC-US 5 64880902 64880902 single base substitution A G missense_variant T502A 1504A>G UCEC-US 5 64880902 64880902 single base substitution A G missense_variant T532A 1594A>G UCEC-US 5 64881996 64881996 single base substitution G T 3_prime_UTR_variant UCEC-US 5 64881996 64881996 single base substitution G T downstream_gene_variant UCEC-US 5 64881996 64881996 single base substitution G T exon_variant UCEC-US 5 64881996 64881996 single base substitution G T synonymous_variant T439T 1317G>T UCEC-US 5 64881996 64881996 single base substitution G T synonymous_variant T565T 1695G>T UCEC-US 5 64881996 64881996 single base substitution G T synonymous_variant T595T 1785G>T UCEC-US 5 64883145 64883145 single base substitution G T 3_prime_UTR_variant UCEC-US 5 64883145 64883145 single base substitution G T downstream_gene_variant UCEC-US 5 64883145 64883145 single base substitution G T missense_variant R465S 1395G>T UCEC-US 5 64883145 64883145 single base substitution G T missense_variant R591S 1773G>T UCEC-US 5 64883145 64883145 single base substitution G T missense_variant R621S 1863G>T UCEC-US 5 64887633 64887633 single base substitution C T downstream_gene_variant UCEC-US 5 64887675 64887675 single base substitution C T downstream_gene_variant UCEC-US 5 64887676 64887676 single base substitution G A downstream_gene_variant UCEC-US 5 64887706 64887706 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MO_1012 COSM5568445 c.1473G>A p.S491S Substitution - coding silent 5:65583160-65583160 + 2293776 COSM4607913 c.1676G>T p.G559V Substitution - Missense 5:65586060-65586060 + 234 COSM3731402 c.649_650insT p.D219fs*1 Insertion - Frameshift 5:65571966-65571967 + TCGA-CG-5721-01 COSM3346172 c.1516A>G p.K506E Substitution - Missense 5:65583203-65583203 + TCGA-EE-A29V-06 COSM3617470 c.1453G>A p.E485K Substitution - Missense 5:65583140-65583140 + SCI-1 COSM1581516 c.1586A>C p.N529T Substitution - Missense 5:65585067-65585067 + 88 COSM5016088 c.463delA p.A156fs*2 Deletion - Frameshift 5:65569940-65569940 + 474 COSM4438308 c.243C>T p.S81S Substitution - coding silent 5:65567559-65567559 + C467 COSM4442200 c.1376C>T p.T459M Substitution - Missense 5:65583063-65583063 + TCGA-BR-4361-01 COSM3855881 c.1851A>G p.E617E Substitution - coding silent 5:65587306-65587306 + TCGA-A5-A0VP-01 COSM1069350 c.1043G>A p.R348H Substitution - Missense 5:65576952-65576952 + sysucc-1370T COSM5472121 c.1126C>A p.L376M Substitution - Missense 5:65577035-65577035 + TCGA-BS-A0UF-01 COSM1069353 c.1372G>T p.D458Y Substitution - Missense 5:65583059-65583059 + S01366 COSM314391 c.966A>G p.L322L Substitution - coding silent 5:65572283-65572283 + LC_C21 COSM1186773 c.1930A>T p.T644S Substitution - Missense 5:65587385-65587385 + LUAD-YINHD COSM351246 c.905G>C p.R302T Substitution - Missense 5:65572222-65572222 + TCGA-BS-A0U8-01 COSM1069348 c.253C>T p.R85C Substitution - Missense 5:65567569-65567569 + ESCC_87 COSM5636732 c.627A>T p.R209R Substitution - coding silent 5:65571944-65571944 + TCGA-A2-A0YG-01 COSM449965 c.389G>A p.R130H Substitution - Missense 5:65569721-65569721 + WT015 COSM5351825 c.794G>A p.W265* Substitution - Nonsense 5:65572111-65572111 + PCSI_0240_Pa_P_526 COSM4808607 c.169G>C p.E57Q Substitution - Missense 5:65563479-65563479 + T2269 COSM4717330 c.608T>G p.I203S Substitution - Missense 5:65571925-65571925 + CSCC-20-T COSM4471329 c.1711C>T p.R571* Substitution - Nonsense 5:65586095-65586095 + CHEWS029 COSM4585940 c.1842A>G p.K614K Substitution - coding silent 5:65587297-65587297 + 262LT COSM4382544 c.541G>A p.E181K Substitution - Missense 5:65571858-65571858 + 230 COSM3730339 c.619G>T p.D207Y Substitution - Missense 5:65571936-65571936 + TCGA-DD-A119-01 COSM4919915 c.859T>C p.C287R Substitution - Missense 5:65572176-65572176 + DLBCL827 COSM1582012 c.886_887insAG p.A296fs*16 Insertion - Frameshift 5:65572203-65572204 + TCGA-BR-4361-01 COSM3855880 c.1678G>T p.G560* Substitution - Nonsense 5:65586062-65586062 + SC_9047 COSM5553187 c.78A>G p.E26E Substitution - coding silent 5:65563388-65563388 + TCGA-AA-3672-01 COSM267246 c.1873G>A p.V625I Substitution - Missense 5:65587328-65587328 + TCGA-EJ-7317-01 COSM1471814 c.1025G>A p.R342Q Substitution - Missense 5:65576934-65576934 + TCGA-EB-A44Q-06 COSM3617469 c.1094A>G p.E365G Substitution - Missense 5:65577003-65577003 + YUWAND COSM1695838 c.646C>T p.H216Y Substitution - Missense 5:65571963-65571963 + TCGA-BR-6452-01 COSM3855878 c.528T>C p.F176F Substitution - coding silent 5:65571845-65571845 + HT115 COSM1069351 c.1107C>T p.F369F Substitution - coding silent 5:65577016-65577016 + RKO COSM4648896 c.1017A>G p.E339E Substitution - coding silent 5:65576926-65576926 + TCGA-A3-3346-01 COSM482956 c.88A>T p.R30* Substitution - Nonsense 5:65563398-65563398 + TCGA-DK-A3WW-01 COSM3776789 c.223G>C p.D75H Substitution - Missense 5:65567539-65567539 + T2932 COSM3346175 c.1624A>G p.I542V Substitution - Missense 5:65586008-65586008 + CSCC-55-T COSM4548939 c.460G>A p.D154N Substitution - Missense 5:65569937-65569937 + TCGA-AX-A05Z-01 COSM1069355 c.1785G>T p.T595T Substitution - coding silent 5:65586169-65586169 + 2090425 COSM1738194 c.1293T>G p.N431K Substitution - Missense 5:65579556-65579556 + CN-AML-CR-41-Dx COSM5427057 c.86A>G p.E29G Substitution - Missense 5:65563396-65563396 + LS411 COSM3346169 c.1204C>T p.Q402* Substitution - Nonsense 5:65579467-65579467 + 2090425 COSM1738193 c.1289A>G p.Q430R Substitution - Missense 5:65579552-65579552 + CSCC-11-T COSM4550920 c.513G>A p.L171L Substitution - coding silent 5:65569990-65569990 + TCGA-D1-A17H-01 COSM1069350 c.1043G>A p.R348H Substitution - Missense 5:65576952-65576952 + CSCC-6-T COSM4560069 c.829G>A p.A277T Substitution - Missense 5:65572146-65572146 + BK0004 COSM4185516 c.74C>T p.T25I Substitution - Missense 5:65563384-65563384 + HCC137 COSM1620458 c.1812T>A p.N604K Substitution - Missense 5:65587267-65587267 + SS6003109 COSM3346168 c.1168C>T p.R390W Substitution - Missense 5:65579431-65579431 + C32 COSM4619266 c.561G>A p.G187G Substitution - coding silent 5:65571878-65571878 + 88 COSM5014494 c.800A>T p.Y267F Substitution - Missense 5:65572117-65572117 + WA22 COSM241239 c.278T>C p.I93T Substitution - Missense 5:65567594-65567594 + 152 COSM3733002 c.1820_1822delCAG p.T607_V608>I Complex - deletion inframe 5:65587275-65587277 + HCT8 COSM4635280 c.1565A>G p.H522R Substitution - Missense 5:65585046-65585046 + T3118 COSM4717329 c.171G>A p.E57E Substitution - coding silent 5:65563481-65563481 + TCGA-BF-A1Q0-01 COSM3617468 c.866C>T p.S289L Substitution - Missense 5:65572183-65572183 + CHC798T COSM4950655 c.50G>A p.R17Q Substitution - Missense 5:65563360-65563360 + CHC798T COSM4950655 c.50G>A p.R17Q Substitution - Missense 5:65563360-65563360 + TCGA-AZ-4315-01 COSM1069348 c.253C>T p.R85C Substitution - Missense 5:65567569-65567569 + TCGA-BR-8591-01 COSM3855877 c.348G>A p.W116* Substitution - Nonsense 5:65569680-65569680 + SNUH_G76_S1 COSM4416583 c.944T>G p.M315R Substitution - Missense 5:65572261-65572261 + T2345 COSM4717331 c.1282delG p.V428fs*11 Deletion - Frameshift 5:65579545-65579545 + TCGA-AB-2904-03 COSM1319183 c.1272T>G p.S424S Substitution - coding silent 5:65579535-65579535 + HCC53T COSM1620457 c.660A>T p.K220N Substitution - Missense 5:65571977-65571977 + TCGA-AA-A010-01 COSM284207 c.388C>T p.R130C Substitution - Missense 5:65569720-65569720 + YUKAT COSM5403710 c.1912G>A p.V638I Substitution - Missense 5:65587367-65587367 + CSCC-54-T COSM4501383 c.587C>A p.S196Y Substitution - Missense 5:65571904-65571904 + YUKAT COSM5403709 c.1413G>A p.E471E Substitution - coding silent 5:65583100-65583100 + CRC-7 COSM304870 c.1451C>G p.A484G Substitution - Missense 5:65583138-65583138 + LUAD-S01315 COSM345769 c.1057G>C p.V353L Substitution - Missense 5:65576966-65576966 + TCGA-B5-A0JY-01 COSM1069356 c.1863G>T p.R621S Substitution - Missense 5:65587318-65587318 + TCGA-BS-A0UT-01 COSM1069352 c.1259A>T p.E420V Substitution - Missense 5:65579522-65579522 + TCGA-B7-5816-01 COSM3855879 c.1672T>C p.W558R Substitution - Missense 5:65586056-65586056 + TCGA-37-3783-01 COSM738382 c.35G>A p.R12K Substitution - Missense 5:65563345-65563345 + HCC137T COSM1620458 c.1812T>A p.N604K Substitution - Missense 5:65587267-65587267 + ESO-2143 COSM1262901 c.903T>C p.D301D Substitution - coding silent 5:65572220-65572220 + YURTHE COSM1695837 c.337G>A p.V113I Substitution - Missense 5:65569669-65569669 + PT37 COSM5918792 c.1297C>T p.Q433* Substitution - Nonsense 5:65579560-65579560 + TCGA-B5-A11R-01 COSM1069349 c.285T>C p.H95H Substitution - coding silent 5:65567601-65567601 + HCC53 COSM1620457 c.660A>T p.K220N Substitution - Missense 5:65571977-65571977 + LPJ119 COSM1316697 c.217T>G p.Y73D Substitution - Missense 5:65567533-65567533 + Pat_41_B COSM5868695 c.796G>A p.E266K Substitution - Missense 5:65572113-65572113 + DLBCL685 COSM1581515 c.631G>A p.D211N Substitution - Missense 5:65571948-65571948 + TCGA-DR-A0ZM-01 COSM461964 c.626G>C p.R209P Substitution - Missense 5:65571943-65571943 + NB1506 COSM1581515 c.631G>A p.D211N Substitution - Missense 5:65571948-65571948 + 88 COSM5014493 c.798A>C p.E266D Substitution - Missense 5:65572115-65572115 + DLBCL1020 COSM1582012 c.886_887insAG p.A296fs*16 Insertion - Frameshift 5:65572203-65572204 + TCGA-B5-A11E-01 COSM1069354 c.1594A>G p.T532A Substitution - Missense 5:65585075-65585075 + LPJ119 COSM1316698 c.224A>T p.D75V Substitution - Missense 5:65567540-65567540 + TCGA-57-1584-01 COSM78340 c.1097C>G p.T366S Substitution - Missense 5:65577006-65577006 + TCGA-BS-A0UA-01 COSM1069350 c.1043G>A p.R348H Substitution - Missense 5:65576952-65576952 + Pat_28_B COSM5868694 c.392G>A p.S131N Substitution - Missense 5:65569724-65569724 + TCGA-AX-A0J0-01 COSM1069351 c.1107C>T p.F369F Substitution - coding silent 5:65577016-65577016 + TCGA-AU-6004-01 COSM1438170 c.67_68insA p.T25fs*20 Insertion - Frameshift 5:65563377-65563378 + TCGA-AM-5821-01 COSM3761279 c.1725A>G p.P575P Substitution - coding silent 5:65586109-65586109 + S01366 COSM314391 c.966A>G p.L322L Substitution - coding silent 5:65572283-65572283 + LPJ119 COSM1316696 c.215T>C p.V72A Substitution - Missense 5:65567531-65567531 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.121401;Hs.121410;Hs.121413;Hs.121415;Hs.121426;Hs.121432 5q12.3 2476190|CGAP|BC015385|A/G|coding|Pro575Pro|1727|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1161-126A>C 5 64875125 HC A G Synonymous p.L322L c.966A>G 5 64868110 SCLC A T Missense p.E420V c.1259A>T 5 64875349 UCEC A T Missense p.M246L c.736A>T 5 64867880 CM A T Missense p.Q433L c.1298A>T 5 64875388 CM A T Nonsense p.R30* c.88A>T 5 64859225 RCCC CC TT IntronicBlockSubstitution . c.196+102_196+103delinsTT 5 64859435 CM C G Missense p.T366S c.1097C>G 5 64872833 OV C T Missense p.S289L c.866C>T 5 64868010 CM C T Nonsense p.R489* c.1465C>T 5 64878979 COREAD G A Missense p.E485K c.1453G>A 5 64878967 CM G A Missense p.M246I c.738G>A 5 64867882 LUAD G A Missense p.R12K c.35G>A 5 64859172 LUSC G A Missense p.R130H c.389G>A 5 64865548 BRCA G A Missense p.R16H c.47G>A 5 64859184 CM G A Missense p.R342Q c.1025G>A 5 64872761 PRAD G A Missense p.R348H c.1043G>A 5 64872779 UCEC G A Synonymous p.R390R c.1170G>A 5 64875260 LUAD G C Missense p.G530R c.1588G>C 5 64880896 BRCA G C Missense p.G615A c.1844G>C 5 64883126 LUAD TA GC Missense p.I409S c.1226_1227delinsGC 5 64875316 THCA T C Missense p.W558R c.1672T>C 5 64881883 STAD T C Missense p.Y249H c.745T>C 5 64867889 RCCC T C Synonymous p.D301D c.903T>C 5 64868047 ESCA T C Synonymous p.H95H c.285T>C 5 64863428 UCEC T G IntronicSNV . c.300-121T>G 5 64865338 DLBCL T G Synonymous p.S424S c.1272T>G 5 64875362 AML