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 179394008 179394008 + Silent SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr5:179394008C>T c.948G>A c.(946-948)ccG>ccA p.P316P BLCA 5 179390562 179390562 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr5:179390562C>T c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K BLCA 5 179405246 179405246 + Missense_Mutation SNP C C T TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr5:179405246C>T c.805G>A c.(805-807)Gag>Aag p.E269K BRCA 5 179405246 179405246 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr5:179405246C>G c.805G>C c.(805-807)Gag>Cag p.E269Q BRCA 5 179440193 179440193 + Silent SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 g.chr5:179440193C>A c.561G>T c.(559-561)ccG>ccT p.P187P CESC 5 179440305 179440305 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr5:179440305C>G c.449G>C c.(448-450)gGa>gCa p.G150A COAD 5 179390530 179390532 + In_Frame_Del DEL GAG GAG - TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:179390530_179390532delGAG c.1183_1185delCTC c.(1183-1185)ctcdel p.L395del COAD 5 179393927 179393927 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:179393927G>A c.1029C>T c.(1027-1029)ctC>ctT p.L343L COAD 5 179393927 179393927 + Silent SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr5:179393927G>A c.1029C>T c.(1027-1029)ctC>ctT p.L343L COAD 5 179393928 179393928 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:179393928A>G c.1028T>C c.(1027-1029)cTc>cCc p.L343P COAD 5 179407200 179407200 + Splice_Site SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:179407200G>A c.694C>T c.(694-696)Cgt>Tgt p.R232C COAD 5 179440072 179440072 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:179440072C>T c.682G>A c.(682-684)Gac>Aac p.D228N COAD 5 179440133 179440133 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:179440133A>G c.621T>C c.(619-621)atT>atC p.I207I COAD 5 179467587 179467590 + Frame_Shift_Del DEL TGTT TGTT - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr5:179467587_179467590delTGTT c.305_308delAACA c.(304-309)aaacagfs p.KQ102fs COAD 5 179467610 179467610 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:179467610G>T c.285C>A c.(283-285)ttC>ttA p.F95L COAD 5 179467637 179467637 + Silent SNP A A G TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr5:179467637A>G c.258T>C c.(256-258)caT>caC p.H86H COAD 5 179467638 179467638 + Missense_Mutation SNP T T C TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr5:179467638T>C c.257A>G c.(256-258)cAt>cGt p.H86R COADREAD 5 179382668 179382668 + Splice_Site SNP C C A TCGA-AG-A015-01A-01W-A005-10 TCGA-AG-A015-10A-01W-A005-10 g.chr5:179382668C>A c.1152G>T c.(1150-1152)agG>agT p.R384S COADREAD 5 179390530 179390532 + In_Frame_Del DEL GAG GAG - TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:179390530_179390532delGAG c.1183_1185delCTC c.(1183-1185)ctcdel p.L395del COADREAD 5 179393927 179393927 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:179393927G>A c.1029C>T c.(1027-1029)ctC>ctT p.L343L COADREAD 5 179393927 179393927 + Silent SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr5:179393927G>A c.1029C>T c.(1027-1029)ctC>ctT p.L343L COADREAD 5 179393928 179393928 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:179393928A>G c.1028T>C c.(1027-1029)cTc>cCc p.L343P COADREAD 5 179405233 179405233 + Missense_Mutation SNP T T A TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr5:179405233T>A c.818A>T c.(817-819)cAg>cTg p.Q273L COADREAD 5 179405271 179405271 + Silent SNP G G A TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr5:179405271G>A c.780C>T c.(778-780)gaC>gaT p.D260D COADREAD 5 179407200 179407200 + Splice_Site SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:179407200G>A c.694C>T c.(694-696)Cgt>Tgt p.R232C COADREAD 5 179440072 179440072 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:179440072C>T c.682G>A c.(682-684)Gac>Aac p.D228N COADREAD 5 179440133 179440133 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:179440133A>G c.621T>C c.(619-621)atT>atC p.I207I COADREAD 5 179467587 179467590 + Frame_Shift_Del DEL TGTT TGTT - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr5:179467587_179467590delTGTT c.305_308delAACA c.(304-309)aaacagfs p.KQ102fs COADREAD 5 179467610 179467610 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:179467610G>T c.285C>A c.(283-285)ttC>ttA p.F95L COADREAD 5 179467637 179467637 + Silent SNP A A G TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr5:179467637A>G c.258T>C c.(256-258)caT>caC p.H86H COADREAD 5 179467638 179467638 + Missense_Mutation SNP T T C TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr5:179467638T>C c.257A>G c.(256-258)cAt>cGt p.H86R DLBC 5 179393867 179393867 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:179393867T>C c.1089A>G c.(1087-1089)tcA>tcG p.S363S GBM 5 179390508 179390508 + Missense_Mutation SNP T T G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr5:179390508T>G c.1207A>C c.(1207-1209)Atg>Ctg p.M403L GBM 5 179393829 179393829 + Missense_Mutation SNP C C T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 g.chr5:179393829C>T c.1127G>A c.(1126-1128)gGa>gAa p.G376E GBM 5 179467635 179467635 + Missense_Mutation SNP A A T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr5:179467635A>T c.260T>A c.(259-261)cTg>cAg p.L87Q GBMLGG 5 179390508 179390508 + Missense_Mutation SNP T T G TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr5:179390508T>G c.1207A>C c.(1207-1209)Atg>Ctg p.M403L GBMLGG 5 179393829 179393829 + Missense_Mutation SNP C C T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 g.chr5:179393829C>T c.1127G>A c.(1126-1128)gGa>gAa p.G376E GBMLGG 5 179393883 179393883 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 g.chr5:179393883C>T c.1073G>A c.(1072-1074)cGa>cAa p.R358Q GBMLGG 5 179393937 179393937 + Missense_Mutation SNP C C A TCGA-DU-7018-01A-11D-2024-08 TCGA-DU-7018-10A-01D-2024-08 g.chr5:179393937C>A c.1019G>T c.(1018-1020)aGa>aTa p.R340I GBMLGG 5 179440075 179440075 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:179440075G>A c.679C>T c.(679-681)Cgc>Tgc p.R227C GBMLGG 5 179467635 179467635 + Missense_Mutation SNP A A T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr5:179467635A>T c.260T>A c.(259-261)cTg>cAg p.L87Q HNSC 5 179405210 179405210 + Missense_Mutation SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 g.chr5:179405210G>C c.841C>G c.(841-843)Ccc>Gcc p.P281A HNSC 5 179440081 179440081 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr5:179440081T>A c.673A>T c.(673-675)Aat>Tat p.N225Y HNSC 5 179440198 179440198 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 g.chr5:179440198G>A c.556C>T c.(556-558)Cca>Tca p.P186S HNSC 5 179440200 179440200 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr5:179440200A>T c.554T>A c.(553-555)aTg>aAg p.M185K KIPAN 5 179382657 179382657 + Silent SNP A A G TCGA-BP-4992-01A-01D-1462-08 TCGA-BP-4992-11A-01D-1462-08 g.chr5:179382657A>G c.1257T>C c.(1255-1257)ttT>ttC p.F419F KIRC 5 179382657 179382657 + Silent SNP A A G TCGA-BP-4992-01A-01D-1462-08 TCGA-BP-4992-11A-01D-1462-08 g.chr5:179382657A>G c.1257T>C c.(1255-1257)ttT>ttC p.F419F LGG 5 179393883 179393883 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 g.chr5:179393883C>T c.1073G>A c.(1072-1074)cGa>cAa p.R358Q LGG 5 179393937 179393937 + Missense_Mutation SNP C C A TCGA-DU-7018-01A-11D-2024-08 TCGA-DU-7018-10A-01D-2024-08 g.chr5:179393937C>A c.1019G>T c.(1018-1020)aGa>aTa p.R340I LGG 5 179440075 179440075 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:179440075G>A c.679C>T c.(679-681)Cgc>Tgc p.R227C LUAD 5 179393827 179393827 + Missense_Mutation SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr5:179393827C>T c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K LUAD 5 179393827 179393827 + Missense_Mutation SNP C C T TCGA-69-7764-01A-11D-2167-08 TCGA-69-7764-10A-01D-2167-08 g.chr5:179393827C>T c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K LUAD 5 179393914 179393914 + Missense_Mutation SNP C C A TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr5:179393914C>A c.1042G>T c.(1042-1044)Ggc>Tgc p.G348C LUAD 5 179397486 179397486 + Missense_Mutation SNP C C A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr5:179397486C>A c.869G>T c.(868-870)tGc>tTc p.C290F LUAD 5 179407141 179407141 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr5:179407141C>A c.753G>T c.(751-753)aaG>aaT p.K251N LUAD 5 179467544 179467544 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr5:179467544C>G c.351G>C c.(349-351)gaG>gaC p.E117D LUAD 5 179467604 179467604 + Silent SNP G G A TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr5:179467604G>A c.291C>T c.(289-291)gtC>gtT p.V97V LUAD 5 179467605 179467605 + Missense_Mutation SNP A A C TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr5:179467605A>C c.290T>G c.(289-291)gTc>gGc p.V97G OV 5 179405232 179405232 + Missense_Mutation SNP C C G TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 g.chr5:179405232C>G c.819G>C c.(817-819)caG>caC p.Q273H OV 5 179405240 179405240 + Missense_Mutation SNP A A G TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 g.chr5:179405240A>G c.811T>C c.(811-813)Tat>Cat p.Y271H READ 5 179382668 179382668 + Splice_Site SNP C C A TCGA-AG-A015-01A-01W-A005-10 TCGA-AG-A015-10A-01W-A005-10 g.chr5:179382668C>A c.1152G>T c.(1150-1152)agG>agT p.R384S READ 5 179405233 179405233 + Missense_Mutation SNP T T A TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr5:179405233T>A c.818A>T c.(817-819)cAg>cTg p.Q273L READ 5 179405271 179405271 + Silent SNP G G A TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr5:179405271G>A c.780C>T c.(778-780)gaC>gaT p.D260D SARC 5 179390555 179390555 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr5:179390555A>G c.1160T>C c.(1159-1161)tTt>tCt p.F387S SKCM 5 179440119 179440119 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr5:179440119C>T c.635G>A c.(634-636)tGg>tAg p.W212* SKCM 5 179467603 179467603 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr5:179467603G>A c.292C>T c.(292-294)Cct>Tct p.P98S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 179390562 179390562 single base substitution C T downstream_gene_variant BLCA-US 5 179390562 179390562 single base substitution C T exon_variant BLCA-US 5 179390562 179390562 single base substitution C T intron_variant BLCA-US 5 179390562 179390562 single base substitution C T missense_variant E385K 1153G>A BLCA-US 5 179390562 179390562 single base substitution C T splice_region_variant BRCA-EU 5 179334174 179334174 single base substitution G C downstream_gene_variant BRCA-EU 5 179337618 179337618 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 179337630 179337630 single base substitution G A downstream_gene_variant BRCA-EU 5 179338030 179338030 single base substitution C T downstream_gene_variant BRCA-EU 5 179339117 179339117 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 179339154 179339154 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 179340170 179340170 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 179340819 179340819 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 179341440 179341440 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 179342144 179342144 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 179343206 179343206 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 179344035 179344035 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 179344898 179344898 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 179345879 179345879 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 179347753 179347753 single base substitution C A intron_variant BRCA-EU 5 179348265 179348265 single base substitution C A intron_variant BRCA-EU 5 179348621 179348621 single base substitution A G intron_variant BRCA-EU 5 179348828 179348828 single base substitution T G intron_variant BRCA-EU 5 179349643 179349643 single base substitution A T intron_variant BRCA-EU 5 179349918 179349918 insertion of <=200bp - A intron_variant BRCA-EU 5 179351251 179351251 deletion of <=200bp T - intron_variant BRCA-EU 5 179351504 179351504 single base substitution A T intron_variant BRCA-EU 5 179352010 179352010 deletion of <=200bp A - intron_variant BRCA-EU 5 179352045 179352045 single base substitution G C intron_variant BRCA-EU 5 179353933 179353933 single base substitution C G intron_variant BRCA-EU 5 179354006 179354006 single base substitution G A intron_variant BRCA-EU 5 179356103 179356103 single base substitution C T intron_variant BRCA-EU 5 179356528 179356528 single base substitution G A intron_variant BRCA-EU 5 179357238 179357238 single base substitution A C intron_variant BRCA-EU 5 179358336 179358336 single base substitution T C intron_variant BRCA-EU 5 179358425 179358425 insertion of <=200bp - T intron_variant BRCA-EU 5 179359042 179359042 single base substitution A G intron_variant BRCA-EU 5 179362024 179362024 single base substitution G A intron_variant BRCA-EU 5 179363130 179363130 single base substitution C T intron_variant BRCA-EU 5 179364080 179364080 single base substitution A T intron_variant BRCA-EU 5 179364308 179364308 single base substitution A G intron_variant BRCA-EU 5 179365249 179365249 single base substitution C T intron_variant BRCA-EU 5 179365628 179365628 single base substitution T G intron_variant BRCA-EU 5 179367689 179367689 insertion of <=200bp - T intron_variant BRCA-EU 5 179368167 179368167 deletion of <=200bp T - intron_variant BRCA-EU 5 179368687 179368687 single base substitution C G intron_variant BRCA-EU 5 179369314 179369314 single base substitution G C intron_variant BRCA-EU 5 179371127 179371127 insertion of <=200bp - A intron_variant BRCA-EU 5 179371718 179371718 single base substitution C A intron_variant BRCA-EU 5 179372357 179372357 single base substitution C A intron_variant BRCA-EU 5 179373441 179373441 deletion of <=200bp A - intron_variant BRCA-EU 5 179374080 179374080 single base substitution C T intron_variant BRCA-EU 5 179375692 179375692 single base substitution G A intron_variant BRCA-EU 5 179376881 179376881 single base substitution C T intron_variant BRCA-EU 5 179377816 179377816 single base substitution G A downstream_gene_variant BRCA-EU 5 179377816 179377816 single base substitution G A intron_variant BRCA-EU 5 179379142 179379142 single base substitution G A downstream_gene_variant BRCA-EU 5 179379142 179379142 single base substitution G A intron_variant BRCA-EU 5 179380713 179380713 single base substitution T A downstream_gene_variant BRCA-EU 5 179380713 179380713 single base substitution T A intron_variant BRCA-EU 5 179381162 179381162 single base substitution C A downstream_gene_variant BRCA-EU 5 179381162 179381162 single base substitution C A intron_variant BRCA-EU 5 179384653 179384653 single base substitution A C intron_variant BRCA-EU 5 179384653 179384653 single base substitution A C upstream_gene_variant BRCA-EU 5 179387373 179387373 single base substitution A G intron_variant BRCA-EU 5 179387373 179387373 single base substitution A G upstream_gene_variant BRCA-EU 5 179388122 179388122 single base substitution A C intron_variant BRCA-EU 5 179388122 179388122 single base substitution A C upstream_gene_variant BRCA-EU 5 179389050 179389050 single base substitution C G downstream_gene_variant BRCA-EU 5 179389050 179389050 single base substitution C G intron_variant BRCA-EU 5 179389662 179389662 single base substitution C G downstream_gene_variant BRCA-EU 5 179389662 179389662 single base substitution C G intron_variant BRCA-EU 5 179390074 179390074 single base substitution C G downstream_gene_variant BRCA-EU 5 179390074 179390074 single base substitution C G intron_variant BRCA-EU 5 179390623 179390623 single base substitution G A downstream_gene_variant BRCA-EU 5 179390623 179390623 single base substitution G A exon_variant BRCA-EU 5 179390623 179390623 single base substitution G A intron_variant BRCA-EU 5 179392341 179392341 single base substitution G A downstream_gene_variant BRCA-EU 5 179392341 179392341 single base substitution G A intron_variant BRCA-EU 5 179392341 179392341 single base substitution G A upstream_gene_variant BRCA-EU 5 179393444 179393444 single base substitution A T downstream_gene_variant BRCA-EU 5 179393444 179393444 single base substitution A T intron_variant BRCA-EU 5 179393444 179393444 single base substitution A T upstream_gene_variant BRCA-EU 5 179393636 179393636 single base substitution C G downstream_gene_variant BRCA-EU 5 179393636 179393636 single base substitution C G intron_variant BRCA-EU 5 179393636 179393636 single base substitution C G upstream_gene_variant BRCA-EU 5 179393912 179393912 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 179393912 179393912 single base substitution G A downstream_gene_variant BRCA-EU 5 179393912 179393912 single base substitution G A synonymous_variant G348G 1044C>T BRCA-EU 5 179393912 179393912 single base substitution G A upstream_gene_variant BRCA-EU 5 179394814 179394814 single base substitution T A intron_variant BRCA-EU 5 179394814 179394814 single base substitution T A upstream_gene_variant BRCA-EU 5 179395770 179395770 single base substitution C T intron_variant BRCA-EU 5 179395770 179395770 single base substitution C T upstream_gene_variant BRCA-EU 5 179396139 179396139 single base substitution G C intron_variant BRCA-EU 5 179396717 179396717 single base substitution C T intron_variant BRCA-EU 5 179397171 179397171 deletion of <=200bp A - intron_variant BRCA-EU 5 179397189 179397189 single base substitution G C intron_variant BRCA-EU 5 179397800 179397800 single base substitution G A intron_variant BRCA-EU 5 179398416 179398416 single base substitution C T intron_variant BRCA-EU 5 179399923 179399923 single base substitution T C downstream_gene_variant BRCA-EU 5 179399923 179399923 single base substitution T C intron_variant BRCA-EU 5 179403732 179403732 single base substitution A C downstream_gene_variant BRCA-EU 5 179403732 179403732 single base substitution A C intron_variant BRCA-EU 5 179404471 179404471 single base substitution C G intron_variant BRCA-EU 5 179404557 179404557 single base substitution C G intron_variant BRCA-EU 5 179405513 179405515 deletion of <=200bp ATG - intron_variant BRCA-EU 5 179405513 179405515 deletion of <=200bp ATG - upstream_gene_variant BRCA-EU 5 179408699 179408699 single base substitution C G intron_variant BRCA-EU 5 179408699 179408699 single base substitution C G upstream_gene_variant BRCA-EU 5 179409069 179409069 single base substitution C A intron_variant BRCA-EU 5 179409069 179409069 single base substitution C A upstream_gene_variant BRCA-EU 5 179409600 179409600 single base substitution A C intron_variant BRCA-EU 5 179409600 179409600 single base substitution A C upstream_gene_variant BRCA-EU 5 179410149 179410149 insertion of <=200bp - A intron_variant BRCA-EU 5 179410149 179410149 insertion of <=200bp - A upstream_gene_variant BRCA-EU 5 179410551 179410551 single base substitution G C intron_variant BRCA-EU 5 179410551 179410551 single base substitution G C upstream_gene_variant BRCA-EU 5 179411871 179411871 single base substitution C A intron_variant BRCA-EU 5 179411871 179411871 single base substitution C A upstream_gene_variant BRCA-EU 5 179412790 179412790 single base substitution C A intron_variant BRCA-EU 5 179413743 179413743 single base substitution T G intron_variant BRCA-EU 5 179415316 179415316 single base substitution C A intron_variant BRCA-EU 5 179415502 179415502 single base substitution G C intron_variant BRCA-EU 5 179417029 179417029 single base substitution C A intron_variant BRCA-EU 5 179417260 179417260 single base substitution C T intron_variant BRCA-EU 5 179417776 179417776 single base substitution C G intron_variant BRCA-EU 5 179418832 179418832 single base substitution G C intron_variant BRCA-EU 5 179419753 179419753 single base substitution C T intron_variant BRCA-EU 5 179421419 179421419 single base substitution G C intron_variant BRCA-EU 5 179421503 179421503 single base substitution T C intron_variant BRCA-EU 5 179422118 179422118 single base substitution G A intron_variant BRCA-EU 5 179424426 179424426 single base substitution C A intron_variant BRCA-EU 5 179425743 179425743 single base substitution A T intron_variant BRCA-EU 5 179427958 179427958 single base substitution C T intron_variant BRCA-EU 5 179428031 179428031 single base substitution G A intron_variant BRCA-EU 5 179428405 179428405 single base substitution C A intron_variant BRCA-EU 5 179428561 179428561 single base substitution G T intron_variant BRCA-EU 5 179428814 179428814 deletion of <=200bp G - intron_variant BRCA-EU 5 179429150 179429150 single base substitution C T intron_variant BRCA-EU 5 179430033 179430033 single base substitution T A intron_variant BRCA-EU 5 179430364 179430364 single base substitution C T intron_variant BRCA-EU 5 179430771 179430771 single base substitution G A intron_variant BRCA-EU 5 179431046 179431046 single base substitution G A intron_variant BRCA-EU 5 179431052 179431052 single base substitution G A intron_variant BRCA-EU 5 179431118 179431118 single base substitution G T intron_variant BRCA-EU 5 179432239 179432239 single base substitution C A intron_variant BRCA-EU 5 179432284 179432284 single base substitution C T intron_variant BRCA-EU 5 179433892 179433892 single base substitution C G intron_variant BRCA-EU 5 179437441 179437441 single base substitution C A intron_variant BRCA-EU 5 179438279 179438279 single base substitution T C intron_variant BRCA-EU 5 179439558 179439558 single base substitution C T intron_variant BRCA-EU 5 179440444 179440444 single base substitution C A intron_variant BRCA-EU 5 179441322 179441322 deletion of <=200bp A - intron_variant BRCA-EU 5 179441982 179441982 deletion of <=200bp A - intron_variant BRCA-EU 5 179442571 179442571 single base substitution G C intron_variant BRCA-EU 5 179442904 179442904 single base substitution C T intron_variant BRCA-EU 5 179443031 179443035 deletion of <=200bp GACTA - intron_variant BRCA-EU 5 179443495 179443495 single base substitution C T intron_variant BRCA-EU 5 179443579 179443579 single base substitution C G intron_variant BRCA-EU 5 179445066 179445066 single base substitution C T intron_variant BRCA-EU 5 179445177 179445177 single base substitution C G intron_variant BRCA-EU 5 179449091 179449091 single base substitution C T intron_variant BRCA-EU 5 179449191 179449191 single base substitution A T intron_variant BRCA-EU 5 179449920 179449920 single base substitution C T intron_variant BRCA-EU 5 179450236 179450236 single base substitution G A intron_variant BRCA-EU 5 179451594 179451594 single base substitution A T intron_variant BRCA-EU 5 179453112 179453112 single base substitution C A intron_variant BRCA-EU 5 179454829 179454829 single base substitution G A intron_variant BRCA-EU 5 179456048 179456048 single base substitution C T intron_variant BRCA-EU 5 179456094 179456094 single base substitution A G intron_variant BRCA-EU 5 179456610 179456610 single base substitution T A intron_variant BRCA-EU 5 179458873 179458873 single base substitution T C intron_variant BRCA-EU 5 179460384 179460384 single base substitution C T intron_variant BRCA-EU 5 179463840 179463840 single base substitution C T intron_variant BRCA-EU 5 179465179 179465179 single base substitution C G intron_variant BRCA-EU 5 179465717 179465717 single base substitution T G intron_variant BRCA-EU 5 179469562 179469562 single base substitution G A intron_variant BRCA-EU 5 179470276 179470276 single base substitution G T intron_variant BRCA-EU 5 179471308 179471308 single base substitution C T intron_variant BRCA-EU 5 179471677 179471677 single base substitution C A intron_variant BRCA-EU 5 179472191 179472191 single base substitution G C intron_variant BRCA-EU 5 179473269 179473269 single base substitution G T intron_variant BRCA-EU 5 179474234 179474234 single base substitution C G intron_variant BRCA-EU 5 179474755 179474755 single base substitution A T intron_variant BRCA-EU 5 179476127 179476127 single base substitution C T intron_variant BRCA-EU 5 179478883 179478883 single base substitution A T intron_variant BRCA-EU 5 179480827 179480827 single base substitution T A intron_variant BRCA-EU 5 179481062 179481062 single base substitution G A intron_variant BRCA-EU 5 179481697 179481697 single base substitution T A intron_variant BRCA-EU 5 179481865 179481865 single base substitution C A intron_variant BRCA-EU 5 179482681 179482681 single base substitution A C intron_variant BRCA-EU 5 179482985 179482985 single base substitution G A intron_variant BRCA-EU 5 179483052 179483052 single base substitution C G intron_variant BRCA-EU 5 179484605 179484605 single base substitution A G intron_variant BRCA-EU 5 179486363 179486363 single base substitution C T intron_variant BRCA-EU 5 179486403 179486403 single base substitution G C intron_variant BRCA-EU 5 179487427 179487427 deletion of <=200bp A - intron_variant BRCA-EU 5 179487941 179487941 single base substitution C T intron_variant BRCA-EU 5 179488271 179488271 single base substitution G A intron_variant BRCA-EU 5 179489359 179489359 single base substitution C T intron_variant BRCA-EU 5 179490284 179490284 single base substitution G A intron_variant BRCA-EU 5 179492805 179492805 single base substitution A G intron_variant BRCA-EU 5 179493742 179493742 single base substitution C T intron_variant BRCA-EU 5 179494108 179494108 single base substitution G T intron_variant BRCA-EU 5 179494238 179494238 deletion of <=200bp T - intron_variant BRCA-EU 5 179495683 179495683 single base substitution C G intron_variant BRCA-EU 5 179499040 179499040 single base substitution G T 5_prime_UTR_variant BRCA-EU 5 179499040 179499040 single base substitution G T upstream_gene_variant BRCA-EU 5 179502794 179502794 single base substitution G A upstream_gene_variant BRCA-FR 5 179344898 179344898 single base substitution C G 3_prime_UTR_variant BRCA-FR 5 179347753 179347753 single base substitution C A intron_variant BRCA-FR 5 179349320 179349320 single base substitution T A intron_variant BRCA-FR 5 179368687 179368687 single base substitution C G intron_variant BRCA-FR 5 179369314 179369314 single base substitution G C intron_variant BRCA-FR 5 179383323 179383323 single base substitution C T exon_variant BRCA-FR 5 179383323 179383323 single base substitution C T intron_variant BRCA-FR 5 179387373 179387373 single base substitution A G intron_variant BRCA-FR 5 179387373 179387373 single base substitution A G upstream_gene_variant BRCA-FR 5 179395070 179395070 single base substitution C A intron_variant BRCA-FR 5 179395070 179395070 single base substitution C A upstream_gene_variant BRCA-FR 5 179409600 179409600 single base substitution A C intron_variant BRCA-FR 5 179409600 179409600 single base substitution A C upstream_gene_variant BRCA-FR 5 179413743 179413743 single base substitution T G intron_variant BRCA-FR 5 179417260 179417260 single base substitution C T intron_variant BRCA-FR 5 179425351 179425351 single base substitution A C intron_variant BRCA-FR 5 179460384 179460384 single base substitution C T intron_variant BRCA-FR 5 179471308 179471308 single base substitution C T intron_variant BRCA-FR 5 179482985 179482985 single base substitution G A intron_variant BRCA-FR 5 179495490 179495490 single base substitution A G intron_variant BRCA-FR 5 179499325 179499325 single base substitution G C upstream_gene_variant BRCA-UK 5 179347807 179347807 single base substitution G T intron_variant BRCA-UK 5 179353933 179353933 single base substitution C G intron_variant BRCA-UK 5 179357142 179357142 single base substitution C G intron_variant BRCA-UK 5 179389077 179389077 single base substitution C G downstream_gene_variant BRCA-UK 5 179389077 179389077 single base substitution C G intron_variant BRCA-UK 5 179418720 179418720 single base substitution C T intron_variant BRCA-UK 5 179459479 179459479 single base substitution C G intron_variant BRCA-UK 5 179486403 179486403 single base substitution G C intron_variant BRCA-UK 5 179495434 179495434 single base substitution G A intron_variant BRCA-US 5 179405246 179405246 single base substitution C G 3_prime_UTR_variant BRCA-US 5 179405246 179405246 single base substitution C G exon_variant BRCA-US 5 179405246 179405246 single base substitution C G missense_variant E269Q 805G>C BRCA-US 5 179440193 179440193 single base substitution C A 3_prime_UTR_variant BRCA-US 5 179440193 179440193 single base substitution C A synonymous_variant P187P 561G>T BTCA-JP 5 179397353 179397353 single base substitution A G intron_variant BTCA-JP 5 179397484 179397484 single base substitution C T 3_prime_UTR_variant BTCA-JP 5 179397484 179397484 single base substitution C T exon_variant BTCA-JP 5 179397484 179397484 single base substitution C T missense_variant V291M 871G>A BTCA-JP 5 179440194 179440194 single base substitution G A 3_prime_UTR_variant BTCA-JP 5 179440194 179440194 single base substitution G A missense_variant P187L 560C>T BTCA-JP 5 179467531 179467531 single base substitution C A exon_variant BTCA-JP 5 179467531 179467531 single base substitution C A missense_variant A122S 364G>T CESC-US 5 179440305 179440305 single base substitution C G intron_variant CESC-US 5 179440305 179440305 single base substitution C G missense_variant G150A 449G>C CLLE-ES 5 179343742 179343742 single base substitution G A 3_prime_UTR_variant CLLE-ES 5 179345189 179345189 single base substitution G A 3_prime_UTR_variant CLLE-ES 5 179365219 179365219 single base substitution A T intron_variant CLLE-ES 5 179381460 179381460 single base substitution C T downstream_gene_variant CLLE-ES 5 179381460 179381460 single base substitution C T intron_variant CLLE-ES 5 179425295 179425295 single base substitution G A intron_variant CLLE-ES 5 179425630 179425630 single base substitution T A intron_variant CLLE-ES 5 179453010 179453010 single base substitution C T intron_variant CLLE-ES 5 179470200 179470200 single base substitution C A intron_variant COAD-US 5 179407200 179407200 single base substitution G A exon_variant COAD-US 5 179407200 179407200 single base substitution G A missense_variant R232C 694C>T COAD-US 5 179407200 179407200 single base substitution G A splice_region_variant COAD-US 5 179407200 179407200 single base substitution G A upstream_gene_variant COAD-US 5 179440133 179440133 single base substitution A G 3_prime_UTR_variant COAD-US 5 179440133 179440133 single base substitution A G synonymous_variant I207I 621T>C COAD-US 5 179467587 179467590 deletion of <=200bp TGTT - exon_variant COAD-US 5 179467587 179467590 deletion of <=200bp TGTT - frameshift_variant KQ102 COAD-US 5 179498595 179498595 single base substitution C T exon_variant COAD-US 5 179498595 179498595 single base substitution C T synonymous_variant T36T 108G>A COAD-US 5 179498658 179498658 single base substitution G T exon_variant COAD-US 5 179498658 179498658 single base substitution G T synonymous_variant L15L 45C>A COCA-CN 5 179338103 179338103 single base substitution G A downstream_gene_variant COCA-CN 5 179346795 179346795 single base substitution C T 3_prime_UTR_variant COCA-CN 5 179352289 179352289 single base substitution G A intron_variant COCA-CN 5 179354345 179354345 single base substitution A G intron_variant COCA-CN 5 179354346 179354346 single base substitution A T intron_variant COCA-CN 5 179360423 179360423 single base substitution A T intron_variant COCA-CN 5 179364126 179364126 single base substitution A G intron_variant COCA-CN 5 179364933 179364933 single base substitution T A intron_variant COCA-CN 5 179376068 179376068 single base substitution G C intron_variant COCA-CN 5 179381131 179381131 single base substitution C T downstream_gene_variant COCA-CN 5 179381131 179381131 single base substitution C T intron_variant COCA-CN 5 179382673 179382673 single base substitution T A intron_variant COCA-CN 5 179384198 179384198 single base substitution G C intron_variant COCA-CN 5 179384198 179384198 single base substitution G C upstream_gene_variant COCA-CN 5 179390620 179390620 single base substitution G A downstream_gene_variant COCA-CN 5 179390620 179390620 single base substitution G A exon_variant COCA-CN 5 179390620 179390620 single base substitution G A intron_variant COCA-CN 5 179392313 179392313 single base substitution C T downstream_gene_variant COCA-CN 5 179392313 179392313 single base substitution C T intron_variant COCA-CN 5 179392313 179392313 single base substitution C T upstream_gene_variant COCA-CN 5 179407191 179407191 single base substitution C T 3_prime_UTR_variant COCA-CN 5 179407191 179407191 single base substitution C T exon_variant COCA-CN 5 179407191 179407191 single base substitution C T missense_variant G235R 703G>A COCA-CN 5 179407191 179407191 single base substitution C T upstream_gene_variant COCA-CN 5 179417699 179417699 single base substitution G A intron_variant COCA-CN 5 179422271 179422271 single base substitution A G intron_variant COCA-CN 5 179429944 179429944 single base substitution A G intron_variant COCA-CN 5 179446371 179446371 single base substitution G A intron_variant COCA-CN 5 179454910 179454910 single base substitution C T intron_variant COCA-CN 5 179465411 179465411 single base substitution G T intron_variant COCA-CN 5 179465470 179465470 single base substitution C T intron_variant COCA-CN 5 179467554 179467554 single base substitution G A exon_variant COCA-CN 5 179467554 179467554 single base substitution G A missense_variant T114M 341C>T COCA-CN 5 179471040 179471040 single base substitution G A intron_variant COCA-CN 5 179471145 179471145 single base substitution G A intron_variant COCA-CN 5 179473218 179473218 single base substitution A T intron_variant COCA-CN 5 179480826 179480826 single base substitution T A intron_variant COCA-CN 5 179482453 179482453 single base substitution C T intron_variant COCA-CN 5 179492812 179492812 single base substitution T A intron_variant EOPC-DE 5 179346878 179346878 single base substitution G A 3_prime_UTR_variant EOPC-DE 5 179376713 179376713 single base substitution C T intron_variant EOPC-DE 5 179413008 179413008 single base substitution T C intron_variant ESAD-UK 5 179333958 179333958 single base substitution C T downstream_gene_variant ESAD-UK 5 179337178 179337178 single base substitution G T downstream_gene_variant ESAD-UK 5 179339817 179339817 single base substitution C G 3_prime_UTR_variant ESAD-UK 5 179339922 179339922 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 179340631 179340631 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 179342190 179342190 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 179342283 179342283 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 179343203 179343203 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 179345308 179345308 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 179345524 179345524 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 179346312 179346312 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 179346382 179346382 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 179346677 179346677 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 179347797 179347797 insertion of <=200bp - A intron_variant ESAD-UK 5 179347896 179347896 single base substitution C T intron_variant ESAD-UK 5 179348940 179348940 single base substitution G T intron_variant ESAD-UK 5 179349301 179349301 single base substitution T A intron_variant ESAD-UK 5 179349849 179349849 single base substitution G A intron_variant ESAD-UK 5 179351961 179351961 single base substitution G A intron_variant ESAD-UK 5 179352981 179352981 single base substitution C T intron_variant ESAD-UK 5 179355000 179355000 single base substitution C T intron_variant ESAD-UK 5 179356138 179356138 single base substitution C T intron_variant ESAD-UK 5 179356540 179356540 single base substitution G A intron_variant ESAD-UK 5 179357278 179357278 single base substitution G A intron_variant ESAD-UK 5 179357885 179357885 insertion of <=200bp - A intron_variant ESAD-UK 5 179358425 179358425 insertion of <=200bp - T intron_variant ESAD-UK 5 179359114 179359114 single base substitution T A intron_variant ESAD-UK 5 179361383 179361383 single base substitution T A intron_variant ESAD-UK 5 179362679 179362679 single base substitution T G intron_variant ESAD-UK 5 179363640 179363640 single base substitution A T intron_variant ESAD-UK 5 179365521 179365521 single base substitution T C intron_variant ESAD-UK 5 179366739 179366739 single base substitution C T intron_variant ESAD-UK 5 179368938 179368938 single base substitution G C intron_variant ESAD-UK 5 179369561 179369561 single base substitution G T intron_variant ESAD-UK 5 179371158 179371158 insertion of <=200bp - G intron_variant ESAD-UK 5 179372432 179372432 single base substitution T A intron_variant ESAD-UK 5 179373441 179373441 insertion of <=200bp - A intron_variant ESAD-UK 5 179374285 179374285 single base substitution C T intron_variant ESAD-UK 5 179376933 179376933 single base substitution T G intron_variant ESAD-UK 5 179377392 179377392 single base substitution C T downstream_gene_variant ESAD-UK 5 179377392 179377392 single base substitution C T intron_variant ESAD-UK 5 179378475 179378475 single base substitution C T downstream_gene_variant ESAD-UK 5 179378475 179378475 single base substitution C T intron_variant ESAD-UK 5 179380335 179380335 single base substitution T G downstream_gene_variant ESAD-UK 5 179380335 179380335 single base substitution T G intron_variant ESAD-UK 5 179381963 179381963 single base substitution T A downstream_gene_variant ESAD-UK 5 179381963 179381963 single base substitution T A intron_variant ESAD-UK 5 179385166 179385166 single base substitution C T intron_variant ESAD-UK 5 179385166 179385166 single base substitution C T upstream_gene_variant ESAD-UK 5 179385556 179385556 single base substitution C G intron_variant ESAD-UK 5 179385556 179385556 single base substitution C G upstream_gene_variant ESAD-UK 5 179387436 179387436 single base substitution T C intron_variant ESAD-UK 5 179387436 179387436 single base substitution T C upstream_gene_variant ESAD-UK 5 179387462 179387462 single base substitution C T intron_variant ESAD-UK 5 179387462 179387462 single base substitution C T upstream_gene_variant ESAD-UK 5 179389018 179389018 single base substitution A G downstream_gene_variant ESAD-UK 5 179389018 179389018 single base substitution A G intron_variant ESAD-UK 5 179392481 179392481 single base substitution C T downstream_gene_variant ESAD-UK 5 179392481 179392481 single base substitution C T intron_variant ESAD-UK 5 179392481 179392481 single base substitution C T upstream_gene_variant ESAD-UK 5 179393227 179393227 single base substitution T A downstream_gene_variant ESAD-UK 5 179393227 179393227 single base substitution T A intron_variant ESAD-UK 5 179393227 179393227 single base substitution T A upstream_gene_variant ESAD-UK 5 179396727 179396727 single base substitution C T intron_variant ESAD-UK 5 179396956 179396956 single base substitution A G intron_variant ESAD-UK 5 179397179 179397179 single base substitution A T intron_variant ESAD-UK 5 179397438 179397438 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 179397438 179397438 single base substitution A C exon_variant ESAD-UK 5 179397438 179397438 single base substitution A C missense_variant L306R 917T>G ESAD-UK 5 179399245 179399245 single base substitution T C downstream_gene_variant ESAD-UK 5 179399245 179399245 single base substitution T C intron_variant ESAD-UK 5 179400040 179400040 single base substitution A T downstream_gene_variant ESAD-UK 5 179400040 179400040 single base substitution A T intron_variant ESAD-UK 5 179400625 179400625 single base substitution C T downstream_gene_variant ESAD-UK 5 179400625 179400625 single base substitution C T intron_variant ESAD-UK 5 179405615 179405615 single base substitution T G intron_variant ESAD-UK 5 179405615 179405615 single base substitution T G upstream_gene_variant ESAD-UK 5 179406487 179406487 single base substitution C T intron_variant ESAD-UK 5 179406487 179406487 single base substitution C T upstream_gene_variant ESAD-UK 5 179407191 179407191 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 179407191 179407191 single base substitution C T exon_variant ESAD-UK 5 179407191 179407191 single base substitution C T missense_variant G235R 703G>A ESAD-UK 5 179407191 179407191 single base substitution C T upstream_gene_variant ESAD-UK 5 179408726 179408726 single base substitution T A intron_variant ESAD-UK 5 179408726 179408726 single base substitution T A upstream_gene_variant ESAD-UK 5 179409472 179409472 single base substitution C A intron_variant ESAD-UK 5 179409472 179409472 single base substitution C A upstream_gene_variant ESAD-UK 5 179412769 179412769 single base substitution C G intron_variant ESAD-UK 5 179416001 179416001 single base substitution G A intron_variant ESAD-UK 5 179417514 179417514 single base substitution C T intron_variant ESAD-UK 5 179419309 179419309 insertion of <=200bp - T intron_variant ESAD-UK 5 179419588 179419588 deletion of <=200bp T - intron_variant ESAD-UK 5 179419753 179419753 single base substitution C A intron_variant ESAD-UK 5 179423636 179423636 single base substitution C A intron_variant ESAD-UK 5 179423641 179423641 single base substitution C T intron_variant ESAD-UK 5 179426108 179426108 insertion of <=200bp - TGCCTTGCAGGT intron_variant ESAD-UK 5 179426821 179426821 single base substitution T G intron_variant ESAD-UK 5 179427549 179427549 single base substitution A G intron_variant ESAD-UK 5 179428886 179428886 single base substitution C T intron_variant ESAD-UK 5 179429035 179429035 single base substitution G A intron_variant ESAD-UK 5 179431899 179431899 deletion of <=200bp C - intron_variant ESAD-UK 5 179431938 179431938 single base substitution T G intron_variant ESAD-UK 5 179432444 179432444 single base substitution A C intron_variant ESAD-UK 5 179432827 179432827 single base substitution T C intron_variant ESAD-UK 5 179434369 179434369 single base substitution C T intron_variant ESAD-UK 5 179435623 179435623 single base substitution G A intron_variant ESAD-UK 5 179436712 179436712 single base substitution T G intron_variant ESAD-UK 5 179438014 179438014 single base substitution A T intron_variant ESAD-UK 5 179439358 179439358 single base substitution G C intron_variant ESAD-UK 5 179440123 179440123 single base substitution C A 3_prime_UTR_variant ESAD-UK 5 179440123 179440123 single base substitution C A missense_variant A211S 631G>T ESAD-UK 5 179440588 179440588 single base substitution A T intron_variant ESAD-UK 5 179441351 179441351 single base substitution C T intron_variant ESAD-UK 5 179442042 179442042 single base substitution A G intron_variant ESAD-UK 5 179442338 179442338 single base substitution G A intron_variant ESAD-UK 5 179442737 179442737 single base substitution A G intron_variant ESAD-UK 5 179442883 179442883 single base substitution G C intron_variant ESAD-UK 5 179444521 179444521 single base substitution A C intron_variant ESAD-UK 5 179444728 179444728 single base substitution A C intron_variant ESAD-UK 5 179444872 179444872 single base substitution T A intron_variant ESAD-UK 5 179445305 179445305 single base substitution A C intron_variant ESAD-UK 5 179445550 179445550 single base substitution G A intron_variant ESAD-UK 5 179448185 179448185 single base substitution C T intron_variant ESAD-UK 5 179450312 179450312 single base substitution A C intron_variant ESAD-UK 5 179450461 179450461 single base substitution C T intron_variant ESAD-UK 5 179451675 179451675 insertion of <=200bp - A intron_variant ESAD-UK 5 179453673 179453673 single base substitution C A intron_variant ESAD-UK 5 179453769 179453769 single base substitution T A intron_variant ESAD-UK 5 179454053 179454053 single base substitution C A intron_variant ESAD-UK 5 179456350 179456350 single base substitution A T intron_variant ESAD-UK 5 179457047 179457047 single base substitution C T intron_variant ESAD-UK 5 179457592 179457592 single base substitution T G intron_variant ESAD-UK 5 179459586 179459586 single base substitution G A intron_variant ESAD-UK 5 179463418 179463418 single base substitution C T intron_variant ESAD-UK 5 179464239 179464239 single base substitution C T intron_variant ESAD-UK 5 179464539 179464539 single base substitution C G intron_variant ESAD-UK 5 179465068 179465068 single base substitution C T intron_variant ESAD-UK 5 179466672 179466672 single base substitution A G intron_variant ESAD-UK 5 179468539 179468539 deletion of <=200bp C - intron_variant ESAD-UK 5 179469189 179469189 single base substitution G C intron_variant ESAD-UK 5 179469565 179469565 single base substitution A G intron_variant ESAD-UK 5 179471826 179471826 single base substitution C T intron_variant ESAD-UK 5 179471838 179471838 single base substitution A T intron_variant ESAD-UK 5 179471862 179471862 single base substitution C A intron_variant ESAD-UK 5 179471917 179471917 single base substitution G A intron_variant ESAD-UK 5 179472065 179472065 single base substitution G C intron_variant ESAD-UK 5 179472135 179472135 single base substitution C T intron_variant ESAD-UK 5 179473508 179473508 single base substitution T C intron_variant ESAD-UK 5 179473993 179473993 single base substitution G A intron_variant ESAD-UK 5 179474409 179474409 single base substitution T C intron_variant ESAD-UK 5 179474471 179474471 single base substitution G A intron_variant ESAD-UK 5 179475664 179475664 single base substitution G T intron_variant ESAD-UK 5 179475799 179475799 single base substitution A C intron_variant ESAD-UK 5 179476462 179476462 single base substitution C A intron_variant ESAD-UK 5 179478060 179478060 single base substitution C A intron_variant ESAD-UK 5 179480286 179480286 single base substitution C T intron_variant ESAD-UK 5 179480466 179480466 single base substitution C T intron_variant ESAD-UK 5 179481367 179481367 single base substitution G A intron_variant ESAD-UK 5 179481445 179481445 single base substitution C T intron_variant ESAD-UK 5 179482545 179482545 single base substitution G A intron_variant ESAD-UK 5 179482709 179482709 insertion of <=200bp - T intron_variant ESAD-UK 5 179483154 179483154 single base substitution C A intron_variant ESAD-UK 5 179484051 179484051 single base substitution T G intron_variant ESAD-UK 5 179485135 179485135 single base substitution A C intron_variant ESAD-UK 5 179486446 179486446 single base substitution A G intron_variant ESAD-UK 5 179488541 179488541 single base substitution C G intron_variant ESAD-UK 5 179488819 179488819 single base substitution G T intron_variant ESAD-UK 5 179493876 179493876 single base substitution T A intron_variant ESAD-UK 5 179494276 179494276 single base substitution A T intron_variant ESAD-UK 5 179495400 179495400 single base substitution G A intron_variant ESAD-UK 5 179497840 179497840 single base substitution G A intron_variant ESAD-UK 5 179498013 179498013 single base substitution G A intron_variant ESAD-UK 5 179498422 179498422 single base substitution G T intron_variant ESAD-UK 5 179499718 179499718 single base substitution C T upstream_gene_variant ESAD-UK 5 179500074 179500074 single base substitution A C upstream_gene_variant ESAD-UK 5 179503722 179503722 single base substitution G A upstream_gene_variant ESCA-CN 5 179440125 179440125 single base substitution G A 3_prime_UTR_variant ESCA-CN 5 179440125 179440125 single base substitution G A missense_variant S210L 629C>T GBM-US 5 179390508 179390508 single base substitution T G 3_prime_UTR_variant GBM-US 5 179390508 179390508 single base substitution T G downstream_gene_variant GBM-US 5 179390508 179390508 single base substitution T G exon_variant GBM-US 5 179390508 179390508 single base substitution T G intron_variant GBM-US 5 179390508 179390508 single base substitution T G missense_variant M403L 1207A>C GBM-US 5 179393829 179393829 single base substitution C T 3_prime_UTR_variant GBM-US 5 179393829 179393829 single base substitution C T downstream_gene_variant GBM-US 5 179393829 179393829 single base substitution C T missense_variant G376E 1127G>A GBM-US 5 179393829 179393829 single base substitution C T upstream_gene_variant GBM-US 5 179467635 179467635 single base substitution A T exon_variant GBM-US 5 179467635 179467635 single base substitution A T missense_variant L87Q 260T>A KIRC-US 5 179382657 179382657 single base substitution A G 3_prime_UTR_variant KIRC-US 5 179382657 179382657 single base substitution A G exon_variant KIRC-US 5 179382657 179382657 single base substitution A G intron_variant KIRC-US 5 179382657 179382657 single base substitution A G synonymous_variant F419F 1257T>C LAML-KR 5 179348712 179348712 single base substitution G A intron_variant LAML-KR 5 179348728 179348728 single base substitution T C intron_variant LGG-US 5 179393883 179393883 single base substitution C T 3_prime_UTR_variant LGG-US 5 179393883 179393883 single base substitution C T downstream_gene_variant LGG-US 5 179393883 179393883 single base substitution C T missense_variant R358Q 1073G>A LGG-US 5 179393883 179393883 single base substitution C T upstream_gene_variant LGG-US 5 179393937 179393937 single base substitution C A 3_prime_UTR_variant LGG-US 5 179393937 179393937 single base substitution C A downstream_gene_variant LGG-US 5 179393937 179393937 single base substitution C A missense_variant R340I 1019G>T LGG-US 5 179393937 179393937 single base substitution C A upstream_gene_variant LICA-FR 5 179346330 179346330 single base substitution T C 3_prime_UTR_variant LICA-FR 5 179347428 179347428 single base substitution T A splice_acceptor_variant LICA-FR 5 179373181 179373181 single base substitution G T intron_variant LICA-FR 5 179381206 179381206 single base substitution C T downstream_gene_variant LICA-FR 5 179381206 179381206 single base substitution C T intron_variant LICA-FR 5 179388890 179388890 single base substitution T C intron_variant LICA-FR 5 179428364 179428364 single base substitution C T intron_variant LICA-FR 5 179442539 179442539 single base substitution A G intron_variant LICA-FR 5 179446384 179446384 deletion of <=200bp A - intron_variant LICA-FR 5 179456853 179456853 insertion of <=200bp - T intron_variant LICA-FR 5 179463621 179463621 single base substitution G A intron_variant LICA-FR 5 179470524 179470524 single base substitution T C intron_variant LICA-FR 5 179480826 179480827 deletion of <=200bp TT - intron_variant LIHC-US 5 179393926 179393926 single base substitution C T 3_prime_UTR_variant LIHC-US 5 179393926 179393926 single base substitution C T downstream_gene_variant LIHC-US 5 179393926 179393926 single base substitution C T missense_variant G344S 1030G>A LIHC-US 5 179393926 179393926 single base substitution C T upstream_gene_variant LINC-JP 5 179338411 179338411 single base substitution C A downstream_gene_variant LINC-JP 5 179342057 179342057 single base substitution T G 3_prime_UTR_variant LINC-JP 5 179351036 179351036 single base substitution T C intron_variant LINC-JP 5 179358812 179358812 single base substitution T A intron_variant LINC-JP 5 179371359 179371359 single base substitution T G intron_variant LINC-JP 5 179384830 179384830 single base substitution C G intron_variant LINC-JP 5 179384830 179384830 single base substitution C G upstream_gene_variant LINC-JP 5 179393888 179393888 single base substitution T C 3_prime_UTR_variant LINC-JP 5 179393888 179393888 single base substitution T C downstream_gene_variant LINC-JP 5 179393888 179393888 single base substitution T C synonymous_variant P356P 1068A>G LINC-JP 5 179393888 179393888 single base substitution T C upstream_gene_variant LINC-JP 5 179403413 179403413 single base substitution C A downstream_gene_variant LINC-JP 5 179403413 179403413 single base substitution C A intron_variant LINC-JP 5 179405087 179405087 single base substitution C A intron_variant LINC-JP 5 179405738 179405738 single base substitution T G intron_variant LINC-JP 5 179405738 179405738 single base substitution T G upstream_gene_variant LINC-JP 5 179407020 179407020 single base substitution G T intron_variant LINC-JP 5 179407020 179407020 single base substitution G T upstream_gene_variant LINC-JP 5 179409426 179409426 single base substitution C T intron_variant LINC-JP 5 179409426 179409426 single base substitution C T upstream_gene_variant LINC-JP 5 179413559 179413559 single base substitution T C intron_variant LINC-JP 5 179415455 179415455 single base substitution T C intron_variant LINC-JP 5 179428200 179428200 single base substitution G A intron_variant LINC-JP 5 179431235 179431235 single base substitution T C intron_variant LINC-JP 5 179440110 179440110 insertion of <=200bp - A 3_prime_UTR_variant LINC-JP 5 179440110 179440110 insertion of <=200bp - A frameshift_variant F215F? LINC-JP 5 179440204 179440204 single base substitution G A 3_prime_UTR_variant LINC-JP 5 179440204 179440204 single base substitution G A stop_gained R184* 550C>T LINC-JP 5 179453678 179453678 single base substitution T C intron_variant LINC-JP 5 179454625 179454625 single base substitution C A intron_variant LINC-JP 5 179467538 179467538 single base substitution T C exon_variant LINC-JP 5 179467538 179467538 single base substitution T C missense_variant I119M 357A>G LINC-JP 5 179472117 179472117 single base substitution A G intron_variant LINC-JP 5 179476729 179476729 single base substitution T A intron_variant LINC-JP 5 179476734 179476734 single base substitution T A intron_variant LINC-JP 5 179479789 179479789 deletion of <=200bp A - intron_variant LINC-JP 5 179483266 179483266 single base substitution A C intron_variant LINC-JP 5 179488432 179488432 single base substitution A G intron_variant LINC-JP 5 179498880 179498880 single base substitution G T 5_prime_UTR_variant LINC-JP 5 179498880 179498880 single base substitution G T upstream_gene_variant LIRI-JP 5 179335546 179335546 single base substitution C T downstream_gene_variant LIRI-JP 5 179342874 179342874 single base substitution C A 3_prime_UTR_variant LIRI-JP 5 179344129 179344129 single base substitution T A 3_prime_UTR_variant LIRI-JP 5 179347556 179347556 single base substitution T C intron_variant LIRI-JP 5 179347655 179347655 single base substitution C A intron_variant LIRI-JP 5 179353631 179353631 single base substitution G A intron_variant LIRI-JP 5 179354136 179354136 single base substitution A C intron_variant LIRI-JP 5 179354488 179354488 single base substitution C T intron_variant LIRI-JP 5 179357331 179357331 single base substitution C G intron_variant LIRI-JP 5 179358199 179358199 single base substitution C T intron_variant LIRI-JP 5 179360747 179360747 single base substitution T C intron_variant LIRI-JP 5 179361760 179361760 single base substitution C T intron_variant LIRI-JP 5 179362299 179362299 single base substitution T C intron_variant LIRI-JP 5 179363187 179363187 single base substitution T C intron_variant LIRI-JP 5 179367539 179367539 single base substitution A C intron_variant LIRI-JP 5 179368023 179368023 single base substitution G T intron_variant LIRI-JP 5 179372255 179372255 single base substitution G T intron_variant LIRI-JP 5 179372265 179372265 single base substitution C A intron_variant LIRI-JP 5 179374209 179374209 single base substitution C A intron_variant LIRI-JP 5 179375544 179375544 single base substitution G A intron_variant LIRI-JP 5 179376538 179376538 single base substitution C T intron_variant LIRI-JP 5 179379835 179379835 single base substitution T C downstream_gene_variant LIRI-JP 5 179379835 179379835 single base substitution T C intron_variant LIRI-JP 5 179380081 179380081 single base substitution T C downstream_gene_variant LIRI-JP 5 179380081 179380081 single base substitution T C intron_variant LIRI-JP 5 179382277 179382277 single base substitution C G 3_prime_UTR_variant LIRI-JP 5 179382277 179382277 single base substitution C G downstream_gene_variant LIRI-JP 5 179382277 179382277 single base substitution C G intron_variant LIRI-JP 5 179383020 179383020 single base substitution T C intron_variant LIRI-JP 5 179384392 179384392 single base substitution A C intron_variant LIRI-JP 5 179384392 179384392 single base substitution A C upstream_gene_variant LIRI-JP 5 179384547 179384547 single base substitution T C intron_variant LIRI-JP 5 179384547 179384547 single base substitution T C upstream_gene_variant LIRI-JP 5 179386384 179386384 single base substitution T C intron_variant LIRI-JP 5 179386384 179386384 single base substitution T C upstream_gene_variant LIRI-JP 5 179393275 179393275 single base substitution T C downstream_gene_variant LIRI-JP 5 179393275 179393275 single base substitution T C intron_variant LIRI-JP 5 179393275 179393275 single base substitution T C upstream_gene_variant LIRI-JP 5 179393480 179393480 single base substitution T C downstream_gene_variant LIRI-JP 5 179393480 179393480 single base substitution T C intron_variant LIRI-JP 5 179393480 179393480 single base substitution T C upstream_gene_variant LIRI-JP 5 179393974 179393974 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 179393974 179393974 single base substitution T C downstream_gene_variant LIRI-JP 5 179393974 179393974 single base substitution T C missense_variant M328V 982A>G LIRI-JP 5 179393974 179393974 single base substitution T C upstream_gene_variant LIRI-JP 5 179397330 179397330 single base substitution T C intron_variant LIRI-JP 5 179398142 179398142 single base substitution T C intron_variant LIRI-JP 5 179401154 179401154 single base substitution T C downstream_gene_variant LIRI-JP 5 179401154 179401154 single base substitution T C intron_variant LIRI-JP 5 179403640 179403640 single base substitution T C downstream_gene_variant LIRI-JP 5 179403640 179403640 single base substitution T C intron_variant LIRI-JP 5 179408578 179408578 single base substitution T G intron_variant LIRI-JP 5 179408578 179408578 single base substitution T G upstream_gene_variant LIRI-JP 5 179409708 179409708 single base substitution T C intron_variant LIRI-JP 5 179409708 179409708 single base substitution T C upstream_gene_variant LIRI-JP 5 179412022 179412022 single base substitution C T intron_variant LIRI-JP 5 179412022 179412022 single base substitution C T upstream_gene_variant LIRI-JP 5 179412031 179412031 single base substitution G A intron_variant LIRI-JP 5 179412031 179412031 single base substitution G A upstream_gene_variant LIRI-JP 5 179412628 179412628 single base substitution A G intron_variant LIRI-JP 5 179412902 179412902 single base substitution T C intron_variant LIRI-JP 5 179413291 179413291 single base substitution T C intron_variant LIRI-JP 5 179416323 179416323 single base substitution C A intron_variant LIRI-JP 5 179417004 179417004 single base substitution T C intron_variant LIRI-JP 5 179418823 179418823 single base substitution C T intron_variant LIRI-JP 5 179418884 179418884 single base substitution A T intron_variant LIRI-JP 5 179419669 179419669 single base substitution G C intron_variant LIRI-JP 5 179420015 179420015 single base substitution G A intron_variant LIRI-JP 5 179422293 179422293 single base substitution T C intron_variant LIRI-JP 5 179422458 179422458 single base substitution C T intron_variant LIRI-JP 5 179423572 179423572 single base substitution C T intron_variant LIRI-JP 5 179424698 179424698 single base substitution C A intron_variant LIRI-JP 5 179425141 179425141 single base substitution T C intron_variant LIRI-JP 5 179426633 179426633 single base substitution T C intron_variant LIRI-JP 5 179426709 179426709 single base substitution T C intron_variant LIRI-JP 5 179426879 179426879 single base substitution T C intron_variant LIRI-JP 5 179426914 179426914 single base substitution T C intron_variant LIRI-JP 5 179427231 179427231 single base substitution C T intron_variant LIRI-JP 5 179428951 179428951 single base substitution T C intron_variant LIRI-JP 5 179430052 179430052 single base substitution A G intron_variant LIRI-JP 5 179430055 179430055 single base substitution T G intron_variant LIRI-JP 5 179435105 179435105 single base substitution T C intron_variant LIRI-JP 5 179438568 179438568 single base substitution C A intron_variant LIRI-JP 5 179439785 179439785 single base substitution T C intron_variant LIRI-JP 5 179439997 179439997 single base substitution G C intron_variant LIRI-JP 5 179441062 179441062 single base substitution T C intron_variant LIRI-JP 5 179441095 179441095 single base substitution C T intron_variant LIRI-JP 5 179442060 179442060 single base substitution C A intron_variant LIRI-JP 5 179443087 179443087 single base substitution G A intron_variant LIRI-JP 5 179447065 179447065 single base substitution G A intron_variant LIRI-JP 5 179454856 179454866 deletion of <=200bp CGGCTGCCCGG - intron_variant LIRI-JP 5 179455909 179455909 single base substitution A C intron_variant LIRI-JP 5 179456456 179456456 single base substitution T C intron_variant LIRI-JP 5 179456697 179456697 single base substitution G A intron_variant LIRI-JP 5 179457826 179457826 single base substitution A T intron_variant LIRI-JP 5 179459383 179459383 single base substitution T C intron_variant LIRI-JP 5 179462566 179462566 single base substitution C A intron_variant LIRI-JP 5 179464744 179464744 single base substitution T C intron_variant LIRI-JP 5 179464921 179464921 single base substitution T C intron_variant LIRI-JP 5 179470319 179470319 single base substitution T C intron_variant LIRI-JP 5 179471827 179471827 single base substitution G A intron_variant LIRI-JP 5 179472073 179472073 single base substitution T C intron_variant LIRI-JP 5 179472552 179472552 single base substitution C A intron_variant LIRI-JP 5 179474927 179474927 single base substitution C T intron_variant LIRI-JP 5 179475776 179475776 single base substitution C T intron_variant LIRI-JP 5 179475965 179475965 single base substitution A T intron_variant LIRI-JP 5 179478139 179478139 single base substitution T C intron_variant LIRI-JP 5 179478831 179478831 single base substitution T A intron_variant LIRI-JP 5 179479188 179479188 single base substitution T C intron_variant LIRI-JP 5 179482519 179482519 single base substitution T C intron_variant LIRI-JP 5 179484788 179484788 single base substitution T G intron_variant LIRI-JP 5 179485025 179485025 single base substitution T C intron_variant LIRI-JP 5 179489437 179489437 single base substitution C T intron_variant LIRI-JP 5 179491808 179491808 single base substitution A G intron_variant LIRI-JP 5 179497110 179497110 insertion of <=200bp - GGTTT intron_variant LIRI-JP 5 179500799 179500799 single base substitution T A upstream_gene_variant LIRI-JP 5 179502406 179502406 single base substitution C A upstream_gene_variant LIRI-JP 5 179502921 179502921 single base substitution T C upstream_gene_variant LUSC-KR 5 179346693 179346693 single base substitution C T 3_prime_UTR_variant LUSC-KR 5 179356121 179356121 single base substitution A C intron_variant LUSC-KR 5 179361179 179361179 single base substitution G A intron_variant LUSC-KR 5 179376999 179376999 single base substitution C T intron_variant LUSC-KR 5 179402137 179402137 single base substitution A G downstream_gene_variant LUSC-KR 5 179402137 179402137 single base substitution A G intron_variant LUSC-KR 5 179415782 179415782 single base substitution G C intron_variant LUSC-KR 5 179416709 179416709 single base substitution G C intron_variant LUSC-KR 5 179442714 179442714 single base substitution G A intron_variant LUSC-KR 5 179444829 179444829 single base substitution C G intron_variant LUSC-KR 5 179457486 179457486 single base substitution C A intron_variant LUSC-KR 5 179461891 179461891 single base substitution G C intron_variant LUSC-KR 5 179464631 179464631 single base substitution T A intron_variant LUSC-KR 5 179473384 179473384 single base substitution T C intron_variant LUSC-KR 5 179473395 179473395 single base substitution C A intron_variant LUSC-KR 5 179475387 179475387 single base substitution A G intron_variant LUSC-KR 5 179482453 179482453 single base substitution C T intron_variant LUSC-KR 5 179482469 179482469 single base substitution T C intron_variant LUSC-KR 5 179486265 179486265 single base substitution C T intron_variant LUSC-KR 5 179502460 179502460 single base substitution C T upstream_gene_variant LUSC-KR 5 179503025 179503025 single base substitution T C upstream_gene_variant MALY-DE 5 179335290 179335290 deletion of <=200bp T - downstream_gene_variant MALY-DE 5 179343094 179343094 single base substitution A G 3_prime_UTR_variant MALY-DE 5 179345460 179345460 single base substitution C T 3_prime_UTR_variant MALY-DE 5 179350592 179350592 single base substitution G T intron_variant MALY-DE 5 179360329 179360329 deletion of <=200bp G - intron_variant MALY-DE 5 179364867 179364867 deletion of <=200bp A - intron_variant MALY-DE 5 179384031 179384031 single base substitution A G intron_variant MALY-DE 5 179384031 179384031 single base substitution A G upstream_gene_variant MALY-DE 5 179386393 179386393 single base substitution C T intron_variant MALY-DE 5 179386393 179386393 single base substitution C T upstream_gene_variant MALY-DE 5 179388112 179388112 insertion of <=200bp - A intron_variant MALY-DE 5 179388112 179388112 insertion of <=200bp - A upstream_gene_variant MALY-DE 5 179399964 179399964 single base substitution T G downstream_gene_variant MALY-DE 5 179399964 179399964 single base substitution T G intron_variant MALY-DE 5 179421847 179421847 single base substitution C G intron_variant MALY-DE 5 179447594 179447594 single base substitution G A intron_variant MALY-DE 5 179448268 179448268 single base substitution G A intron_variant MALY-DE 5 179464678 179464678 single base substitution T G intron_variant MALY-DE 5 179468903 179468903 deletion of <=200bp A - intron_variant MALY-DE 5 179476415 179476415 single base substitution T G intron_variant MALY-DE 5 179477159 179477159 single base substitution T A intron_variant MALY-DE 5 179477787 179477787 single base substitution G A intron_variant MALY-DE 5 179479537 179479537 single base substitution T G intron_variant MALY-DE 5 179479743 179479743 single base substitution A G intron_variant MALY-DE 5 179484410 179484410 single base substitution A G intron_variant MALY-DE 5 179484548 179484548 deletion of <=200bp A - intron_variant MALY-DE 5 179490551 179490551 single base substitution A C intron_variant MALY-DE 5 179500679 179500679 single base substitution C T upstream_gene_variant MELA-AU 5 179335757 179335757 single base substitution C T downstream_gene_variant MELA-AU 5 179336331 179336332 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 179338863 179338863 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179339691 179339691 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179340005 179340005 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179340108 179340108 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179340421 179340421 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179340452 179340452 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179340506 179340506 single base substitution T C 3_prime_UTR_variant MELA-AU 5 179340793 179340793 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179340936 179340936 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179341060 179341060 single base substitution A G 3_prime_UTR_variant MELA-AU 5 179341584 179341584 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179342117 179342117 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179342276 179342276 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179342517 179342517 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179342766 179342766 single base substitution T G 3_prime_UTR_variant MELA-AU 5 179342872 179342872 single base substitution C A 3_prime_UTR_variant MELA-AU 5 179343287 179343287 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179343831 179343831 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179343993 179343993 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179344324 179344324 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179344447 179344447 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179344496 179344496 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179344658 179344658 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179344752 179344753 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 179344993 179344993 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179345065 179345065 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179345170 179345171 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 179345433 179345433 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179345638 179345638 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179345778 179345778 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179346034 179346034 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179346549 179346549 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179346678 179346678 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179346885 179346885 single base substitution C T 3_prime_UTR_variant MELA-AU 5 179347401 179347401 single base substitution G A synonymous_variant S392S 1176C>T MELA-AU 5 179347777 179347777 single base substitution A T intron_variant MELA-AU 5 179347928 179347928 single base substitution G A intron_variant MELA-AU 5 179348223 179348223 single base substitution G A intron_variant MELA-AU 5 179348309 179348309 single base substitution G A intron_variant MELA-AU 5 179348329 179348329 single base substitution G A intron_variant MELA-AU 5 179348783 179348783 single base substitution G A intron_variant MELA-AU 5 179348805 179348805 single base substitution G A intron_variant MELA-AU 5 179348948 179348948 single base substitution G A intron_variant MELA-AU 5 179349533 179349533 single base substitution G A intron_variant MELA-AU 5 179349551 179349551 single base substitution G A intron_variant MELA-AU 5 179349572 179349572 single base substitution G A intron_variant MELA-AU 5 179349612 179349612 single base substitution G A intron_variant MELA-AU 5 179350044 179350044 single base substitution C T intron_variant MELA-AU 5 179350166 179350166 single base substitution G A intron_variant MELA-AU 5 179350228 179350228 single base substitution G A intron_variant MELA-AU 5 179350505 179350505 single base substitution G A intron_variant MELA-AU 5 179351298 179351298 single base substitution C T intron_variant MELA-AU 5 179351390 179351390 single base substitution G A intron_variant MELA-AU 5 179351918 179351918 single base substitution C T intron_variant MELA-AU 5 179352168 179352168 single base substitution G A intron_variant MELA-AU 5 179352251 179352251 single base substitution G A intron_variant MELA-AU 5 179352925 179352925 single base substitution C T intron_variant MELA-AU 5 179353656 179353656 deletion of <=200bp A - intron_variant MELA-AU 5 179353844 179353844 single base substitution G A intron_variant MELA-AU 5 179354020 179354020 single base substitution G A intron_variant MELA-AU 5 179354545 179354545 single base substitution G A intron_variant MELA-AU 5 179355008 179355008 single base substitution G A intron_variant MELA-AU 5 179355183 179355183 single base substitution G A intron_variant MELA-AU 5 179355184 179355184 single base substitution A G intron_variant MELA-AU 5 179355261 179355261 single base substitution A C intron_variant MELA-AU 5 179355663 179355663 single base substitution C T intron_variant MELA-AU 5 179355898 179355898 single base substitution G A intron_variant MELA-AU 5 179356392 179356392 single base substitution C A intron_variant MELA-AU 5 179356523 179356523 single base substitution G A intron_variant MELA-AU 5 179357697 179357697 single base substitution G A intron_variant MELA-AU 5 179357797 179357797 single base substitution G A intron_variant MELA-AU 5 179358265 179358265 single base substitution G T intron_variant MELA-AU 5 179358267 179358267 single base substitution A T intron_variant MELA-AU 5 179358396 179358396 single base substitution T C intron_variant MELA-AU 5 179359171 179359171 single base substitution G A intron_variant MELA-AU 5 179359488 179359488 single base substitution G A intron_variant MELA-AU 5 179359627 179359627 single base substitution C T intron_variant MELA-AU 5 179360063 179360063 single base substitution G A intron_variant MELA-AU 5 179360468 179360471 deletion of <=200bp TATT - intron_variant MELA-AU 5 179360552 179360552 single base substitution T G intron_variant MELA-AU 5 179360834 179360834 single base substitution C T intron_variant MELA-AU 5 179361221 179361221 single base substitution G A intron_variant MELA-AU 5 179361407 179361407 single base substitution G A intron_variant MELA-AU 5 179361828 179361828 single base substitution G A intron_variant MELA-AU 5 179361885 179361885 single base substitution C T intron_variant MELA-AU 5 179362153 179362153 single base substitution G A intron_variant MELA-AU 5 179363044 179363044 single base substitution C T intron_variant MELA-AU 5 179363071 179363071 single base substitution G A intron_variant MELA-AU 5 179363558 179363558 single base substitution G A intron_variant MELA-AU 5 179363810 179363810 single base substitution A G intron_variant MELA-AU 5 179363855 179363855 single base substitution G A intron_variant MELA-AU 5 179364003 179364003 single base substitution G A intron_variant MELA-AU 5 179364075 179364075 single base substitution G A intron_variant MELA-AU 5 179364107 179364107 single base substitution G A intron_variant MELA-AU 5 179364123 179364123 single base substitution G A intron_variant MELA-AU 5 179364321 179364321 single base substitution T G intron_variant MELA-AU 5 179364542 179364542 single base substitution G A intron_variant MELA-AU 5 179364545 179364545 single base substitution G A intron_variant MELA-AU 5 179365369 179365369 single base substitution G A intron_variant MELA-AU 5 179365406 179365406 single base substitution G A intron_variant MELA-AU 5 179365462 179365462 single base substitution G A intron_variant MELA-AU 5 179365893 179365893 single base substitution G T intron_variant MELA-AU 5 179365927 179365927 single base substitution G A intron_variant MELA-AU 5 179366194 179366194 single base substitution G A intron_variant MELA-AU 5 179366723 179366723 single base substitution G A intron_variant MELA-AU 5 179366724 179366724 single base substitution G A intron_variant MELA-AU 5 179367160 179367160 single base substitution G C intron_variant MELA-AU 5 179367163 179367163 single base substitution T C intron_variant MELA-AU 5 179368599 179368599 single base substitution G A intron_variant MELA-AU 5 179368902 179368902 single base substitution A G intron_variant MELA-AU 5 179369119 179369119 single base substitution G A intron_variant MELA-AU 5 179369413 179369413 single base substitution A G intron_variant MELA-AU 5 179369473 179369473 single base substitution C T intron_variant MELA-AU 5 179370149 179370149 single base substitution C T intron_variant MELA-AU 5 179370223 179370223 single base substitution G A intron_variant MELA-AU 5 179370354 179370354 single base substitution G A intron_variant MELA-AU 5 179370567 179370575 deletion of <=200bp TAACATGTA - intron_variant MELA-AU 5 179370771 179370771 single base substitution C T intron_variant MELA-AU 5 179371239 179371239 single base substitution G A intron_variant MELA-AU 5 179371433 179371433 single base substitution G A intron_variant MELA-AU 5 179372302 179372302 single base substitution G A intron_variant MELA-AU 5 179372598 179372598 single base substitution G A intron_variant MELA-AU 5 179372620 179372621 multiple base substitution (>=2bp and <=200bp) GA TT intron_variant MELA-AU 5 179373141 179373141 single base substitution A G intron_variant MELA-AU 5 179373185 179373185 single base substitution G C intron_variant MELA-AU 5 179373553 179373553 single base substitution G A intron_variant MELA-AU 5 179374624 179374624 single base substitution G A intron_variant MELA-AU 5 179375682 179375682 single base substitution G A intron_variant MELA-AU 5 179375956 179375956 single base substitution G A intron_variant MELA-AU 5 179377853 179377853 single base substitution G A downstream_gene_variant MELA-AU 5 179377853 179377853 single base substitution G A intron_variant MELA-AU 5 179377862 179377862 single base substitution G A downstream_gene_variant MELA-AU 5 179377862 179377862 single base substitution G A intron_variant MELA-AU 5 179378078 179378078 single base substitution G A downstream_gene_variant MELA-AU 5 179378078 179378078 single base substitution G A intron_variant MELA-AU 5 179378315 179378315 single base substitution T C downstream_gene_variant MELA-AU 5 179378315 179378315 single base substitution T C intron_variant MELA-AU 5 179378454 179378454 single base substitution G A downstream_gene_variant MELA-AU 5 179378454 179378454 single base substitution G A intron_variant MELA-AU 5 179378480 179378480 single base substitution T C downstream_gene_variant MELA-AU 5 179378480 179378480 single base substitution T C intron_variant MELA-AU 5 179378919 179378919 single base substitution G A downstream_gene_variant MELA-AU 5 179378919 179378919 single base substitution G A intron_variant MELA-AU 5 179379235 179379235 single base substitution G A downstream_gene_variant MELA-AU 5 179379235 179379235 single base substitution G A intron_variant MELA-AU 5 179379363 179379363 single base substitution T C downstream_gene_variant MELA-AU 5 179379363 179379363 single base substitution T C intron_variant MELA-AU 5 179380371 179380371 single base substitution G A downstream_gene_variant MELA-AU 5 179380371 179380371 single base substitution G A intron_variant MELA-AU 5 179380695 179380695 single base substitution C T downstream_gene_variant MELA-AU 5 179380695 179380695 single base substitution C T intron_variant MELA-AU 5 179381105 179381105 single base substitution G A downstream_gene_variant MELA-AU 5 179381105 179381105 single base substitution G A intron_variant MELA-AU 5 179381675 179381675 single base substitution G A downstream_gene_variant MELA-AU 5 179381675 179381675 single base substitution G A intron_variant MELA-AU 5 179381998 179381998 single base substitution G A downstream_gene_variant MELA-AU 5 179381998 179381998 single base substitution G A intron_variant MELA-AU 5 179382098 179382098 single base substitution G A 3_prime_UTR_variant MELA-AU 5 179382098 179382098 single base substitution G A downstream_gene_variant MELA-AU 5 179382098 179382098 single base substitution G A intron_variant MELA-AU 5 179382684 179382684 single base substitution G A intron_variant MELA-AU 5 179383273 179383273 single base substitution G A exon_variant MELA-AU 5 179383273 179383273 single base substitution G A intron_variant MELA-AU 5 179383275 179383275 single base substitution G A exon_variant MELA-AU 5 179383275 179383275 single base substitution G A intron_variant MELA-AU 5 179384118 179384118 single base substitution A G intron_variant MELA-AU 5 179384118 179384118 single base substitution A G upstream_gene_variant MELA-AU 5 179384160 179384160 single base substitution C T intron_variant MELA-AU 5 179384160 179384160 single base substitution C T upstream_gene_variant MELA-AU 5 179384203 179384203 single base substitution G A intron_variant MELA-AU 5 179384203 179384203 single base substitution G A upstream_gene_variant MELA-AU 5 179384387 179384388 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 179384387 179384388 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 179384883 179384883 single base substitution T A intron_variant MELA-AU 5 179384883 179384883 single base substitution T A upstream_gene_variant MELA-AU 5 179386415 179386415 single base substitution C T intron_variant MELA-AU 5 179386415 179386415 single base substitution C T upstream_gene_variant MELA-AU 5 179386944 179386944 single base substitution C T intron_variant MELA-AU 5 179386944 179386944 single base substitution C T upstream_gene_variant MELA-AU 5 179387001 179387002 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 179387001 179387002 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 179387086 179387086 single base substitution G A intron_variant MELA-AU 5 179387086 179387086 single base substitution G A upstream_gene_variant MELA-AU 5 179387520 179387520 single base substitution G A intron_variant MELA-AU 5 179387520 179387520 single base substitution G A upstream_gene_variant MELA-AU 5 179387994 179387994 single base substitution G A intron_variant MELA-AU 5 179387994 179387994 single base substitution G A upstream_gene_variant MELA-AU 5 179388301 179388301 single base substitution G A intron_variant MELA-AU 5 179388301 179388301 single base substitution G A upstream_gene_variant MELA-AU 5 179388703 179388703 single base substitution G A intron_variant MELA-AU 5 179389132 179389132 single base substitution G A downstream_gene_variant MELA-AU 5 179389132 179389132 single base substitution G A intron_variant MELA-AU 5 179389205 179389205 single base substitution G A downstream_gene_variant MELA-AU 5 179389205 179389205 single base substitution G A intron_variant MELA-AU 5 179389220 179389221 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 179389220 179389221 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 179391241 179391241 single base substitution G A downstream_gene_variant MELA-AU 5 179391241 179391241 single base substitution G A intron_variant MELA-AU 5 179391241 179391241 single base substitution G A upstream_gene_variant MELA-AU 5 179392140 179392141 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 5 179392140 179392141 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 179392140 179392141 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 5 179392176 179392176 single base substitution G A downstream_gene_variant MELA-AU 5 179392176 179392176 single base substitution G A intron_variant MELA-AU 5 179392176 179392176 single base substitution G A upstream_gene_variant MELA-AU 5 179392345 179392345 single base substitution G A downstream_gene_variant MELA-AU 5 179392345 179392345 single base substitution G A intron_variant MELA-AU 5 179392345 179392345 single base substitution G A upstream_gene_variant MELA-AU 5 179392502 179392502 single base substitution G T downstream_gene_variant MELA-AU 5 179392502 179392502 single base substitution G T intron_variant MELA-AU 5 179392502 179392502 single base substitution G T upstream_gene_variant MELA-AU 5 179394046 179394046 single base substitution G A intron_variant MELA-AU 5 179394046 179394046 single base substitution G A upstream_gene_variant MELA-AU 5 179394385 179394385 single base substitution A G intron_variant MELA-AU 5 179394385 179394385 single base substitution A G upstream_gene_variant MELA-AU 5 179394673 179394674 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 179394673 179394674 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 179395152 179395152 single base substitution G A intron_variant MELA-AU 5 179395152 179395152 single base substitution G A upstream_gene_variant MELA-AU 5 179396458 179396458 single base substitution G A intron_variant MELA-AU 5 179397579 179397579 single base substitution G A intron_variant MELA-AU 5 179399098 179399098 single base substitution G A downstream_gene_variant MELA-AU 5 179399098 179399098 single base substitution G A intron_variant MELA-AU 5 179400730 179400730 single base substitution C T downstream_gene_variant MELA-AU 5 179400730 179400730 single base substitution C T intron_variant MELA-AU 5 179401032 179401032 single base substitution G A downstream_gene_variant MELA-AU 5 179401032 179401032 single base substitution G A intron_variant MELA-AU 5 179401126 179401126 single base substitution G A downstream_gene_variant MELA-AU 5 179401126 179401126 single base substitution G A intron_variant MELA-AU 5 179401784 179401784 single base substitution G A downstream_gene_variant MELA-AU 5 179401784 179401784 single base substitution G A intron_variant MELA-AU 5 179401913 179401913 single base substitution G A downstream_gene_variant MELA-AU 5 179401913 179401913 single base substitution G A intron_variant MELA-AU 5 179401956 179401956 single base substitution G A downstream_gene_variant MELA-AU 5 179401956 179401956 single base substitution G A intron_variant MELA-AU 5 179402374 179402374 single base substitution A C downstream_gene_variant MELA-AU 5 179402374 179402374 single base substitution A C intron_variant MELA-AU 5 179402770 179402770 single base substitution G A downstream_gene_variant MELA-AU 5 179402770 179402770 single base substitution G A intron_variant MELA-AU 5 179402856 179402856 single base substitution G A downstream_gene_variant MELA-AU 5 179402856 179402856 single base substitution G A intron_variant MELA-AU 5 179402927 179402927 single base substitution G A downstream_gene_variant MELA-AU 5 179402927 179402927 single base substitution G A intron_variant MELA-AU 5 179403091 179403091 single base substitution G A downstream_gene_variant MELA-AU 5 179403091 179403091 single base substitution G A intron_variant MELA-AU 5 179403364 179403364 single base substitution G A downstream_gene_variant MELA-AU 5 179403364 179403364 single base substitution G A intron_variant MELA-AU 5 179404020 179404020 single base substitution C T exon_variant MELA-AU 5 179404020 179404020 single base substitution C T intron_variant MELA-AU 5 179404187 179404187 single base substitution G A exon_variant MELA-AU 5 179404187 179404187 single base substitution G A intron_variant MELA-AU 5 179404375 179404375 single base substitution G A exon_variant MELA-AU 5 179404375 179404375 single base substitution G A intron_variant MELA-AU 5 179405144 179405144 single base substitution A T intron_variant MELA-AU 5 179405308 179405308 single base substitution A C intron_variant MELA-AU 5 179405308 179405308 single base substitution A C upstream_gene_variant MELA-AU 5 179406418 179406418 single base substitution G A intron_variant MELA-AU 5 179406418 179406418 single base substitution G A upstream_gene_variant MELA-AU 5 179406584 179406584 single base substitution G A intron_variant MELA-AU 5 179406584 179406584 single base substitution G A upstream_gene_variant MELA-AU 5 179406586 179406586 single base substitution A T intron_variant MELA-AU 5 179406586 179406586 single base substitution A T upstream_gene_variant MELA-AU 5 179406691 179406691 single base substitution C T intron_variant MELA-AU 5 179406691 179406691 single base substitution C T upstream_gene_variant MELA-AU 5 179407341 179407341 single base substitution G A exon_variant MELA-AU 5 179407341 179407341 single base substitution G A intron_variant MELA-AU 5 179407341 179407341 single base substitution G A upstream_gene_variant MELA-AU 5 179407982 179407982 single base substitution G A intron_variant MELA-AU 5 179407982 179407982 single base substitution G A upstream_gene_variant MELA-AU 5 179408303 179408303 single base substitution G A intron_variant MELA-AU 5 179408303 179408303 single base substitution G A upstream_gene_variant MELA-AU 5 179408367 179408367 single base substitution G A intron_variant MELA-AU 5 179408367 179408367 single base substitution G A upstream_gene_variant MELA-AU 5 179408445 179408445 single base substitution G A intron_variant MELA-AU 5 179408445 179408445 single base substitution G A upstream_gene_variant MELA-AU 5 179408816 179408816 single base substitution C A intron_variant MELA-AU 5 179408816 179408816 single base substitution C A upstream_gene_variant MELA-AU 5 179410160 179410160 single base substitution G C intron_variant MELA-AU 5 179410160 179410160 single base substitution G C upstream_gene_variant MELA-AU 5 179411191 179411191 single base substitution G A intron_variant MELA-AU 5 179411191 179411191 single base substitution G A upstream_gene_variant MELA-AU 5 179411449 179411449 single base substitution T C intron_variant MELA-AU 5 179411449 179411449 single base substitution T C upstream_gene_variant MELA-AU 5 179411811 179411811 single base substitution C T intron_variant MELA-AU 5 179411811 179411811 single base substitution C T upstream_gene_variant MELA-AU 5 179412630 179412630 single base substitution G A intron_variant MELA-AU 5 179413740 179413740 single base substitution G A intron_variant MELA-AU 5 179415034 179415034 single base substitution G T intron_variant MELA-AU 5 179415051 179415051 single base substitution C T intron_variant MELA-AU 5 179415288 179415289 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 179415502 179415502 single base substitution G A intron_variant MELA-AU 5 179415864 179415864 single base substitution G A intron_variant MELA-AU 5 179417080 179417080 single base substitution G A intron_variant MELA-AU 5 179417438 179417438 single base substitution G A intron_variant MELA-AU 5 179417863 179417863 single base substitution G A intron_variant MELA-AU 5 179418076 179418076 single base substitution G A intron_variant MELA-AU 5 179418080 179418080 single base substitution G A intron_variant MELA-AU 5 179418861 179418861 single base substitution G A intron_variant MELA-AU 5 179419120 179419120 single base substitution G A intron_variant MELA-AU 5 179419205 179419205 single base substitution G A intron_variant MELA-AU 5 179420213 179420213 single base substitution G A intron_variant MELA-AU 5 179420462 179420462 single base substitution C A intron_variant MELA-AU 5 179420547 179420547 single base substitution C T intron_variant MELA-AU 5 179420791 179420791 single base substitution G A intron_variant MELA-AU 5 179420918 179420918 single base substitution G A intron_variant MELA-AU 5 179421136 179421136 single base substitution G A intron_variant MELA-AU 5 179421560 179421560 single base substitution C T intron_variant MELA-AU 5 179422796 179422796 single base substitution G A intron_variant MELA-AU 5 179422958 179422958 single base substitution G A intron_variant MELA-AU 5 179423350 179423359 deletion of <=200bp ATAACATGTT - intron_variant MELA-AU 5 179423352 179423365 deletion of <=200bp AACATGTTAAATAG - intron_variant MELA-AU 5 179423773 179423773 single base substitution C T intron_variant MELA-AU 5 179424059 179424059 single base substitution G A intron_variant MELA-AU 5 179424899 179424899 single base substitution T C intron_variant MELA-AU 5 179425025 179425026 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 5 179425292 179425292 single base substitution G A intron_variant MELA-AU 5 179426725 179426725 single base substitution G A intron_variant MELA-AU 5 179426738 179426738 single base substitution A T intron_variant MELA-AU 5 179426853 179426853 single base substitution G A intron_variant MELA-AU 5 179428436 179428436 single base substitution G A intron_variant MELA-AU 5 179429418 179429418 single base substitution A C intron_variant MELA-AU 5 179429490 179429490 single base substitution G A intron_variant MELA-AU 5 179429599 179429599 single base substitution G A intron_variant MELA-AU 5 179429877 179429877 single base substitution G A intron_variant MELA-AU 5 179429952 179429952 single base substitution G A intron_variant MELA-AU 5 179430218 179430218 single base substitution G A intron_variant MELA-AU 5 179430221 179430221 single base substitution G A intron_variant MELA-AU 5 179430516 179430516 single base substitution T C intron_variant MELA-AU 5 179430748 179430748 single base substitution G A intron_variant MELA-AU 5 179431711 179431711 single base substitution G A intron_variant MELA-AU 5 179432247 179432247 single base substitution G A intron_variant MELA-AU 5 179432277 179432277 single base substitution A G intron_variant MELA-AU 5 179434193 179434193 single base substitution G A intron_variant MELA-AU 5 179434635 179434635 single base substitution A G intron_variant MELA-AU 5 179435889 179435889 single base substitution G A intron_variant MELA-AU 5 179436925 179436925 single base substitution G A intron_variant MELA-AU 5 179437482 179437482 single base substitution C T intron_variant MELA-AU 5 179438816 179438816 single base substitution G A intron_variant MELA-AU 5 179439527 179439527 single base substitution G A intron_variant MELA-AU 5 179439862 179439862 single base substitution C T intron_variant MELA-AU 5 179440360 179440360 single base substitution G A intron_variant MELA-AU 5 179440786 179440786 single base substitution A G intron_variant MELA-AU 5 179440885 179440885 single base substitution G A intron_variant MELA-AU 5 179441969 179441969 single base substitution G A intron_variant MELA-AU 5 179442012 179442012 single base substitution G A intron_variant MELA-AU 5 179442115 179442115 single base substitution G A intron_variant MELA-AU 5 179442400 179442400 single base substitution G A intron_variant MELA-AU 5 179442608 179442608 single base substitution G A intron_variant MELA-AU 5 179442614 179442614 single base substitution G A intron_variant MELA-AU 5 179442683 179442683 single base substitution G A intron_variant MELA-AU 5 179442690 179442690 single base substitution G A intron_variant MELA-AU 5 179442725 179442725 single base substitution G A intron_variant MELA-AU 5 179442736 179442736 single base substitution G A intron_variant MELA-AU 5 179442748 179442748 single base substitution G A intron_variant MELA-AU 5 179442765 179442765 single base substitution G A intron_variant MELA-AU 5 179443660 179443660 single base substitution C T intron_variant MELA-AU 5 179443889 179443889 single base substitution G A intron_variant MELA-AU 5 179445760 179445760 single base substitution C A intron_variant MELA-AU 5 179446105 179446105 single base substitution C T intron_variant MELA-AU 5 179447201 179447201 single base substitution G A intron_variant MELA-AU 5 179447202 179447202 single base substitution G A intron_variant MELA-AU 5 179447214 179447214 single base substitution G A intron_variant MELA-AU 5 179447537 179447537 single base substitution A G intron_variant MELA-AU 5 179447692 179447692 single base substitution C T intron_variant MELA-AU 5 179448258 179448258 single base substitution G A intron_variant MELA-AU 5 179448580 179448580 single base substitution C T intron_variant MELA-AU 5 179448667 179448667 single base substitution G A intron_variant MELA-AU 5 179448936 179448936 single base substitution C T intron_variant MELA-AU 5 179450083 179450083 single base substitution C A intron_variant MELA-AU 5 179450168 179450168 single base substitution G A intron_variant MELA-AU 5 179450739 179450739 single base substitution G A intron_variant MELA-AU 5 179450874 179450874 deletion of <=200bp G - intron_variant MELA-AU 5 179450876 179450876 single base substitution G A intron_variant MELA-AU 5 179451461 179451461 single base substitution A T intron_variant MELA-AU 5 179451684 179451684 single base substitution G A intron_variant MELA-AU 5 179452518 179452518 deletion of <=200bp A - intron_variant MELA-AU 5 179452547 179452547 single base substitution C T intron_variant MELA-AU 5 179452632 179452632 single base substitution A T intron_variant MELA-AU 5 179453550 179453550 single base substitution G A intron_variant MELA-AU 5 179453607 179453607 deletion of <=200bp A - intron_variant MELA-AU 5 179453612 179453612 single base substitution G A intron_variant MELA-AU 5 179455752 179455752 single base substitution A G intron_variant MELA-AU 5 179457004 179457004 single base substitution C T intron_variant MELA-AU 5 179457062 179457062 single base substitution G T intron_variant MELA-AU 5 179458204 179458205 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 179458308 179458308 single base substitution G A intron_variant MELA-AU 5 179458341 179458341 single base substitution G A intron_variant MELA-AU 5 179458881 179458881 single base substitution G A intron_variant MELA-AU 5 179458994 179458994 single base substitution C T intron_variant MELA-AU 5 179459225 179459225 single base substitution T A intron_variant MELA-AU 5 179459955 179459955 single base substitution G A intron_variant MELA-AU 5 179459984 179459984 single base substitution T A intron_variant MELA-AU 5 179461433 179461433 single base substitution A T intron_variant MELA-AU 5 179461584 179461584 single base substitution G A intron_variant MELA-AU 5 179461703 179461703 single base substitution G A intron_variant MELA-AU 5 179461807 179461807 single base substitution A G intron_variant MELA-AU 5 179462388 179462388 single base substitution G A intron_variant MELA-AU 5 179464521 179464521 single base substitution T C intron_variant MELA-AU 5 179464997 179464997 single base substitution G A intron_variant MELA-AU 5 179465831 179465831 single base substitution G A intron_variant MELA-AU 5 179466280 179466281 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 179466526 179466526 single base substitution G A intron_variant MELA-AU 5 179466562 179466562 single base substitution G A intron_variant MELA-AU 5 179466749 179466749 single base substitution G A intron_variant MELA-AU 5 179466865 179466865 single base substitution G A intron_variant MELA-AU 5 179467406 179467406 single base substitution G A intron_variant MELA-AU 5 179467824 179467825 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 179468212 179468213 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 179468601 179468601 single base substitution G A intron_variant MELA-AU 5 179469513 179469513 single base substitution T C intron_variant MELA-AU 5 179471905 179471905 single base substitution G A intron_variant MELA-AU 5 179472515 179472515 single base substitution C G intron_variant MELA-AU 5 179473047 179473047 single base substitution G A intron_variant MELA-AU 5 179473300 179473300 single base substitution G A intron_variant MELA-AU 5 179473949 179473949 single base substitution G A intron_variant MELA-AU 5 179474551 179474556 deletion of <=200bp CCTGAC - intron_variant MELA-AU 5 179475546 179475546 single base substitution G A intron_variant MELA-AU 5 179475652 179475652 single base substitution G A intron_variant MELA-AU 5 179477186 179477186 single base substitution G A intron_variant MELA-AU 5 179477517 179477517 single base substitution G A intron_variant MELA-AU 5 179478294 179478294 single base substitution G A intron_variant MELA-AU 5 179478373 179478373 single base substitution C T intron_variant MELA-AU 5 179478441 179478441 single base substitution G A intron_variant MELA-AU 5 179478810 179478810 single base substitution G A intron_variant MELA-AU 5 179480302 179480302 single base substitution G A intron_variant MELA-AU 5 179480653 179480653 single base substitution T C intron_variant MELA-AU 5 179481068 179481068 single base substitution G A intron_variant MELA-AU 5 179482041 179482041 single base substitution G A intron_variant MELA-AU 5 179482455 179482455 single base substitution T C intron_variant MELA-AU 5 179482471 179482471 single base substitution C T intron_variant MELA-AU 5 179482779 179482779 single base substitution G C intron_variant MELA-AU 5 179485524 179485524 single base substitution G A intron_variant MELA-AU 5 179486661 179486661 single base substitution A C intron_variant MELA-AU 5 179488221 179488221 single base substitution G A intron_variant MELA-AU 5 179488699 179488699 single base substitution G C intron_variant MELA-AU 5 179489025 179489025 single base substitution G A intron_variant MELA-AU 5 179490312 179490312 single base substitution G A intron_variant MELA-AU 5 179490605 179490605 single base substitution G A intron_variant MELA-AU 5 179491148 179491148 single base substitution C T intron_variant MELA-AU 5 179491335 179491335 single base substitution G A intron_variant MELA-AU 5 179491806 179491806 single base substitution C T intron_variant MELA-AU 5 179492220 179492220 single base substitution G A intron_variant MELA-AU 5 179492289 179492289 single base substitution G A intron_variant MELA-AU 5 179492696 179492696 single base substitution G A intron_variant MELA-AU 5 179492838 179492838 single base substitution T C intron_variant MELA-AU 5 179493202 179493202 single base substitution G A intron_variant MELA-AU 5 179493633 179493633 single base substitution C T intron_variant MELA-AU 5 179494090 179494090 single base substitution G A intron_variant MELA-AU 5 179494636 179494636 single base substitution A G intron_variant MELA-AU 5 179495043 179495043 single base substitution C T intron_variant MELA-AU 5 179497990 179497990 single base substitution C T intron_variant MELA-AU 5 179499760 179499760 single base substitution A C upstream_gene_variant MELA-AU 5 179499830 179499830 single base substitution G A upstream_gene_variant MELA-AU 5 179499916 179499916 single base substitution G A upstream_gene_variant MELA-AU 5 179500039 179500039 single base substitution A G upstream_gene_variant MELA-AU 5 179500047 179500047 single base substitution G A upstream_gene_variant MELA-AU 5 179500068 179500068 single base substitution G A upstream_gene_variant MELA-AU 5 179500229 179500229 single base substitution G A upstream_gene_variant MELA-AU 5 179500536 179500536 single base substitution C T upstream_gene_variant MELA-AU 5 179500537 179500537 single base substitution C T upstream_gene_variant MELA-AU 5 179501004 179501004 single base substitution G A upstream_gene_variant MELA-AU 5 179501094 179501094 single base substitution G A upstream_gene_variant MELA-AU 5 179501484 179501484 single base substitution C T upstream_gene_variant MELA-AU 5 179502018 179502018 single base substitution C T upstream_gene_variant MELA-AU 5 179502075 179502075 single base substitution C T upstream_gene_variant MELA-AU 5 179502559 179502559 single base substitution C T upstream_gene_variant MELA-AU 5 179502706 179502706 single base substitution C T upstream_gene_variant MELA-AU 5 179502727 179502727 single base substitution C T upstream_gene_variant MELA-AU 5 179502982 179502982 single base substitution T G upstream_gene_variant MELA-AU 5 179503475 179503475 single base substitution C T upstream_gene_variant MELA-AU 5 179503533 179503533 single base substitution C T upstream_gene_variant MELA-AU 5 179503602 179503602 single base substitution C T upstream_gene_variant MELA-AU 5 179503691 179503691 single base substitution G A upstream_gene_variant MELA-AU 5 179503758 179503758 single base substitution C T upstream_gene_variant MELA-AU 5 179503970 179503970 single base substitution C T upstream_gene_variant ORCA-IN 5 179348698 179348698 single base substitution G C intron_variant ORCA-IN 5 179368450 179368450 single base substitution G A intron_variant ORCA-IN 5 179433998 179433998 single base substitution C G intron_variant ORCA-IN 5 179439477 179439477 single base substitution C A intron_variant ORCA-IN 5 179442084 179442084 single base substitution C T intron_variant ORCA-IN 5 179444478 179444479 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant ORCA-IN 5 179471675 179471675 single base substitution T C intron_variant ORCA-IN 5 179478935 179478935 deletion of <=200bp T - intron_variant ORCA-IN 5 179501627 179501627 single base substitution C G upstream_gene_variant OV-AU 5 179337456 179337456 single base substitution C A downstream_gene_variant OV-AU 5 179338038 179338038 single base substitution C A downstream_gene_variant OV-AU 5 179344376 179344376 single base substitution G T 3_prime_UTR_variant OV-AU 5 179347837 179347837 single base substitution T G intron_variant OV-AU 5 179347934 179347934 single base substitution C T intron_variant OV-AU 5 179349458 179349458 single base substitution G A intron_variant OV-AU 5 179349710 179349710 single base substitution G T intron_variant OV-AU 5 179353207 179353207 single base substitution G T intron_variant OV-AU 5 179354156 179354156 single base substitution C G intron_variant OV-AU 5 179355199 179355199 single base substitution G C intron_variant OV-AU 5 179364154 179364154 single base substitution C T intron_variant OV-AU 5 179366214 179366214 single base substitution C G intron_variant OV-AU 5 179370002 179370002 single base substitution C A intron_variant OV-AU 5 179370891 179370891 single base substitution T C intron_variant OV-AU 5 179379014 179379014 single base substitution C G downstream_gene_variant OV-AU 5 179379014 179379014 single base substitution C G intron_variant OV-AU 5 179379414 179379414 single base substitution C A downstream_gene_variant OV-AU 5 179379414 179379414 single base substitution C A intron_variant OV-AU 5 179390524 179390524 single base substitution G C 3_prime_UTR_variant OV-AU 5 179390524 179390524 single base substitution G C downstream_gene_variant OV-AU 5 179390524 179390524 single base substitution G C exon_variant OV-AU 5 179390524 179390524 single base substitution G C intron_variant OV-AU 5 179390524 179390524 single base substitution G C synonymous_variant A397A 1191C>G OV-AU 5 179392907 179392907 single base substitution C G downstream_gene_variant OV-AU 5 179392907 179392907 single base substitution C G intron_variant OV-AU 5 179392907 179392907 single base substitution C G upstream_gene_variant OV-AU 5 179395119 179395119 single base substitution C G intron_variant OV-AU 5 179395119 179395119 single base substitution C G upstream_gene_variant OV-AU 5 179396892 179396892 single base substitution G A intron_variant OV-AU 5 179397022 179397022 single base substitution G A intron_variant OV-AU 5 179398738 179398738 single base substitution C G intron_variant OV-AU 5 179416504 179416504 single base substitution T C intron_variant OV-AU 5 179418530 179418530 single base substitution T A intron_variant OV-AU 5 179424801 179424801 single base substitution C T intron_variant OV-AU 5 179427816 179427816 single base substitution T A intron_variant OV-AU 5 179429460 179429460 single base substitution T G intron_variant OV-AU 5 179429461 179429461 single base substitution C A intron_variant OV-AU 5 179429464 179429464 single base substitution A T intron_variant OV-AU 5 179431238 179431238 single base substitution T C intron_variant OV-AU 5 179448599 179448599 single base substitution C G intron_variant OV-AU 5 179455178 179455178 single base substitution T C intron_variant OV-AU 5 179455271 179455271 single base substitution T G intron_variant OV-AU 5 179457213 179457213 single base substitution A G intron_variant OV-AU 5 179458584 179458584 single base substitution G T intron_variant OV-AU 5 179461659 179461659 single base substitution C T intron_variant OV-AU 5 179462253 179462253 single base substitution T C intron_variant OV-AU 5 179463759 179463759 single base substitution A G intron_variant OV-AU 5 179473961 179473961 single base substitution G T intron_variant OV-AU 5 179479440 179479440 single base substitution C T intron_variant OV-AU 5 179480773 179480773 single base substitution G C intron_variant OV-AU 5 179497987 179497987 single base substitution C A intron_variant OV-AU 5 179498705 179498705 single base substitution T A 5_prime_UTR_variant OV-AU 5 179501634 179501634 single base substitution G T upstream_gene_variant OV-AU 5 179503217 179503217 single base substitution G A upstream_gene_variant OV-AU 5 179503862 179503862 single base substitution C A upstream_gene_variant OV-US 5 179405232 179405232 single base substitution C G 3_prime_UTR_variant OV-US 5 179405232 179405232 single base substitution C G exon_variant OV-US 5 179405232 179405232 single base substitution C G missense_variant Q273H 819G>C PACA-AU 5 179335226 179335226 single base substitution G A downstream_gene_variant PACA-AU 5 179338212 179338212 single base substitution G T downstream_gene_variant PACA-AU 5 179344700 179344700 single base substitution A T 3_prime_UTR_variant PACA-AU 5 179346577 179346577 single base substitution G A 3_prime_UTR_variant PACA-AU 5 179348067 179348067 single base substitution C T intron_variant PACA-AU 5 179353500 179353500 single base substitution T A intron_variant PACA-AU 5 179353944 179353944 single base substitution G T intron_variant PACA-AU 5 179363616 179363616 single base substitution C G intron_variant PACA-AU 5 179364500 179364500 single base substitution T C intron_variant PACA-AU 5 179364929 179364929 single base substitution T A intron_variant PACA-AU 5 179364964 179364964 single base substitution G C intron_variant PACA-AU 5 179365280 179365280 single base substitution T A intron_variant PACA-AU 5 179365507 179365507 single base substitution G C intron_variant PACA-AU 5 179369897 179369897 deletion of <=200bp A - intron_variant PACA-AU 5 179370197 179370197 deletion of <=200bp A - intron_variant PACA-AU 5 179371158 179371158 deletion of <=200bp G - intron_variant PACA-AU 5 179371337 179371337 single base substitution C A intron_variant PACA-AU 5 179382195 179382195 single base substitution C G 3_prime_UTR_variant PACA-AU 5 179382195 179382195 single base substitution C G downstream_gene_variant PACA-AU 5 179382195 179382195 single base substitution C G intron_variant PACA-AU 5 179387338 179387338 deletion of <=200bp A - intron_variant PACA-AU 5 179387338 179387338 deletion of <=200bp A - upstream_gene_variant PACA-AU 5 179390217 179390217 single base substitution C T downstream_gene_variant PACA-AU 5 179390217 179390217 single base substitution C T intron_variant PACA-AU 5 179396133 179396133 insertion of <=200bp - T intron_variant PACA-AU 5 179399605 179399605 single base substitution T G downstream_gene_variant PACA-AU 5 179399605 179399605 single base substitution T G intron_variant PACA-AU 5 179402189 179402189 single base substitution C T downstream_gene_variant PACA-AU 5 179402189 179402189 single base substitution C T intron_variant PACA-AU 5 179407252 179407252 single base substitution C T exon_variant PACA-AU 5 179407252 179407252 single base substitution C T intron_variant PACA-AU 5 179407252 179407252 single base substitution C T upstream_gene_variant PACA-AU 5 179408215 179408215 single base substitution A C intron_variant PACA-AU 5 179408215 179408215 single base substitution A C upstream_gene_variant PACA-AU 5 179415605 179415605 single base substitution T C intron_variant PACA-AU 5 179415892 179415892 single base substitution G A intron_variant PACA-AU 5 179416188 179416188 single base substitution T C intron_variant PACA-AU 5 179419032 179419032 single base substitution G A intron_variant PACA-AU 5 179425855 179425856 deletion of <=200bp TT - intron_variant PACA-AU 5 179426108 179426108 insertion of <=200bp - TGCCTTGCAGGT intron_variant PACA-AU 5 179426910 179426910 single base substitution T C intron_variant PACA-AU 5 179427995 179427995 single base substitution T A intron_variant PACA-AU 5 179433836 179433836 single base substitution A C intron_variant PACA-AU 5 179436196 179436196 single base substitution G C intron_variant PACA-AU 5 179437454 179437454 single base substitution A C intron_variant PACA-AU 5 179437504 179437504 single base substitution C T intron_variant PACA-AU 5 179437796 179437796 single base substitution G A intron_variant PACA-AU 5 179448043 179448043 single base substitution G A intron_variant PACA-AU 5 179451772 179451772 single base substitution G A intron_variant PACA-AU 5 179460694 179460694 deletion of <=200bp T - intron_variant PACA-AU 5 179470433 179470433 single base substitution C T intron_variant PACA-AU 5 179471518 179471518 single base substitution C T intron_variant PACA-AU 5 179473017 179473017 deletion of <=200bp G - intron_variant PACA-AU 5 179473117 179473117 single base substitution G A intron_variant PACA-AU 5 179478083 179478083 single base substitution G A intron_variant PACA-AU 5 179483585 179483585 single base substitution A G intron_variant PACA-AU 5 179489413 179489413 single base substitution A G intron_variant PACA-AU 5 179493819 179493819 single base substitution C T intron_variant PACA-AU 5 179496825 179496825 single base substitution C A intron_variant PACA-AU 5 179499931 179499931 single base substitution G A upstream_gene_variant PACA-AU 5 179499932 179499932 insertion of <=200bp - CA upstream_gene_variant PACA-CA 5 179335428 179335435 deletion of <=200bp CGCCAACA - downstream_gene_variant PACA-CA 5 179340159 179340159 single base substitution T C 3_prime_UTR_variant PACA-CA 5 179342255 179342255 single base substitution G T 3_prime_UTR_variant PACA-CA 5 179343254 179343254 single base substitution C G 3_prime_UTR_variant PACA-CA 5 179343357 179343357 single base substitution G A 3_prime_UTR_variant PACA-CA 5 179345945 179345945 single base substitution C T 3_prime_UTR_variant PACA-CA 5 179346402 179346402 single base substitution T A 3_prime_UTR_variant PACA-CA 5 179346556 179346556 single base substitution C A 3_prime_UTR_variant PACA-CA 5 179346909 179346909 single base substitution T A 3_prime_UTR_variant PACA-CA 5 179347778 179347778 insertion of <=200bp - A intron_variant PACA-CA 5 179347779 179347779 single base substitution T A intron_variant PACA-CA 5 179347795 179347795 insertion of <=200bp - TAT intron_variant PACA-CA 5 179349924 179349924 insertion of <=200bp - T intron_variant PACA-CA 5 179353394 179353394 single base substitution C T intron_variant PACA-CA 5 179353954 179353954 single base substitution C T intron_variant PACA-CA 5 179357098 179357098 single base substitution C T intron_variant PACA-CA 5 179360423 179360423 insertion of <=200bp - GT intron_variant PACA-CA 5 179361001 179361001 single base substitution T C intron_variant PACA-CA 5 179361099 179361099 single base substitution A T intron_variant PACA-CA 5 179364505 179364505 single base substitution T C intron_variant PACA-CA 5 179364867 179364867 deletion of <=200bp A - intron_variant PACA-CA 5 179364931 179364931 single base substitution T A intron_variant PACA-CA 5 179364933 179364933 single base substitution T A intron_variant PACA-CA 5 179364937 179364937 single base substitution A T intron_variant PACA-CA 5 179366122 179366122 single base substitution C A intron_variant PACA-CA 5 179370197 179370199 deletion of <=200bp AAA - intron_variant PACA-CA 5 179372014 179372014 single base substitution G A intron_variant PACA-CA 5 179373341 179373341 single base substitution G A intron_variant PACA-CA 5 179375261 179375261 single base substitution T C intron_variant PACA-CA 5 179375445 179375445 single base substitution G A intron_variant PACA-CA 5 179378033 179378033 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 179378033 179378033 deletion of <=200bp A - intron_variant PACA-CA 5 179379231 179379231 single base substitution T C downstream_gene_variant PACA-CA 5 179379231 179379231 single base substitution T C intron_variant PACA-CA 5 179382081 179382081 single base substitution A G 3_prime_UTR_variant PACA-CA 5 179382081 179382081 single base substitution A G downstream_gene_variant PACA-CA 5 179382081 179382081 single base substitution A G intron_variant PACA-CA 5 179387045 179387045 single base substitution C G intron_variant PACA-CA 5 179387045 179387045 single base substitution C G upstream_gene_variant PACA-CA 5 179387488 179387488 single base substitution G T intron_variant PACA-CA 5 179387488 179387488 single base substitution G T upstream_gene_variant PACA-CA 5 179389225 179389225 single base substitution C G downstream_gene_variant PACA-CA 5 179389225 179389225 single base substitution C G intron_variant PACA-CA 5 179392302 179392307 deletion of <=200bp AGCGGG - downstream_gene_variant PACA-CA 5 179392302 179392307 deletion of <=200bp AGCGGG - intron_variant PACA-CA 5 179392302 179392307 deletion of <=200bp AGCGGG - upstream_gene_variant PACA-CA 5 179394087 179394089 deletion of <=200bp CTT - intron_variant PACA-CA 5 179394087 179394089 deletion of <=200bp CTT - upstream_gene_variant PACA-CA 5 179396698 179396698 single base substitution A G intron_variant PACA-CA 5 179406523 179406523 single base substitution A T intron_variant PACA-CA 5 179406523 179406523 single base substitution A T upstream_gene_variant PACA-CA 5 179409984 179409984 single base substitution T A intron_variant PACA-CA 5 179409984 179409984 single base substitution T A upstream_gene_variant PACA-CA 5 179426733 179426733 deletion of <=200bp A - intron_variant PACA-CA 5 179438511 179438511 single base substitution A G intron_variant PACA-CA 5 179439495 179439495 single base substitution T C intron_variant PACA-CA 5 179441102 179441102 single base substitution C T intron_variant PACA-CA 5 179441981 179441981 single base substitution C T intron_variant PACA-CA 5 179442337 179442337 single base substitution C T intron_variant PACA-CA 5 179442338 179442338 single base substitution G A intron_variant PACA-CA 5 179442504 179442504 single base substitution G A intron_variant PACA-CA 5 179442712 179442712 deletion of <=200bp G - intron_variant PACA-CA 5 179443087 179443087 single base substitution G A intron_variant PACA-CA 5 179444052 179444052 single base substitution G T intron_variant PACA-CA 5 179444172 179444172 single base substitution T C intron_variant PACA-CA 5 179444329 179444329 single base substitution G C intron_variant PACA-CA 5 179446688 179446688 single base substitution A G intron_variant PACA-CA 5 179448245 179448245 single base substitution C T intron_variant PACA-CA 5 179448437 179448437 single base substitution C G intron_variant PACA-CA 5 179448495 179448495 single base substitution C G intron_variant PACA-CA 5 179448552 179448552 single base substitution C A intron_variant PACA-CA 5 179448608 179448608 single base substitution C G intron_variant PACA-CA 5 179449379 179449379 deletion of <=200bp T - intron_variant PACA-CA 5 179451460 179451460 single base substitution A T intron_variant PACA-CA 5 179453799 179453799 single base substitution A T intron_variant PACA-CA 5 179454010 179454010 single base substitution C T intron_variant PACA-CA 5 179455414 179455414 single base substitution C T intron_variant PACA-CA 5 179458576 179458576 single base substitution C G intron_variant PACA-CA 5 179459265 179459265 single base substitution C G intron_variant PACA-CA 5 179461476 179461476 single base substitution C T intron_variant PACA-CA 5 179474453 179474453 insertion of <=200bp - T intron_variant PACA-CA 5 179474902 179474902 single base substitution T A intron_variant PACA-CA 5 179478242 179478242 insertion of <=200bp - A intron_variant PACA-CA 5 179479449 179479449 single base substitution A T intron_variant PACA-CA 5 179482117 179482117 single base substitution C T intron_variant PACA-CA 5 179487281 179487281 single base substitution G T intron_variant PACA-CA 5 179487717 179487717 single base substitution G A intron_variant PACA-CA 5 179491140 179491140 single base substitution A G intron_variant PACA-CA 5 179494265 179494265 single base substitution C G intron_variant PACA-CA 5 179494460 179494493 deletion of <=200bp TAGAGGTTCGCTGTAAGAGAGAAATGGGGTGGTA - intron_variant PACA-CA 5 179496944 179496944 single base substitution A G intron_variant PACA-CA 5 179499243 179499243 single base substitution G A upstream_gene_variant PAEN-AU 5 179346242 179346242 single base substitution G T 3_prime_UTR_variant PAEN-AU 5 179366572 179366572 single base substitution G A intron_variant PAEN-AU 5 179398147 179398147 single base substitution C G intron_variant PAEN-AU 5 179478239 179478239 insertion of <=200bp - TATTTATTTATT intron_variant PAEN-IT 5 179388112 179388112 single base substitution A C intron_variant PAEN-IT 5 179388112 179388112 single base substitution A C upstream_gene_variant PAEN-IT 5 179424098 179424098 single base substitution C A intron_variant PAEN-IT 5 179449090 179449090 single base substitution G T intron_variant PAEN-IT 5 179452182 179452182 single base substitution T G intron_variant PAEN-IT 5 179454082 179454082 single base substitution G C intron_variant PAEN-IT 5 179463680 179463680 single base substitution T C intron_variant PBCA-DE 5 179336413 179336413 single base substitution C T downstream_gene_variant PBCA-DE 5 179340370 179340370 single base substitution C T 3_prime_UTR_variant PBCA-DE 5 179359418 179359418 single base substitution C A intron_variant PBCA-DE 5 179362516 179362517 deletion of <=200bp GT - intron_variant PBCA-DE 5 179367343 179367343 single base substitution C T intron_variant PBCA-DE 5 179370417 179370417 single base substitution G C intron_variant PBCA-DE 5 179373176 179373176 single base substitution C G intron_variant PBCA-DE 5 179389832 179389832 single base substitution T C downstream_gene_variant PBCA-DE 5 179389832 179389832 single base substitution T C intron_variant PBCA-DE 5 179395789 179395789 single base substitution C T intron_variant PBCA-DE 5 179395789 179395789 single base substitution C T upstream_gene_variant PBCA-DE 5 179399702 179399702 single base substitution A T downstream_gene_variant PBCA-DE 5 179399702 179399702 single base substitution A T intron_variant PBCA-DE 5 179414159 179414162 deletion of <=200bp CTTT - intron_variant PBCA-DE 5 179427806 179427806 single base substitution C A intron_variant PBCA-DE 5 179429923 179429925 deletion of <=200bp TTA - intron_variant PBCA-DE 5 179479124 179479124 single base substitution G A intron_variant PBCA-DE 5 179499711 179499711 single base substitution C G upstream_gene_variant PBCA-DE 5 179503511 179503511 single base substitution T G upstream_gene_variant PRAD-CA 5 179333869 179333869 single base substitution C A downstream_gene_variant PRAD-CA 5 179340193 179340193 single base substitution G C 3_prime_UTR_variant PRAD-CA 5 179349158 179349158 single base substitution G A intron_variant PRAD-CA 5 179364126 179364126 single base substitution A G intron_variant PRAD-CA 5 179364933 179364933 single base substitution T A intron_variant PRAD-CA 5 179364935 179364935 single base substitution A T intron_variant PRAD-CA 5 179364937 179364937 single base substitution A T intron_variant PRAD-CA 5 179364939 179364939 single base substitution A T intron_variant PRAD-CA 5 179376054 179376054 single base substitution C T intron_variant PRAD-CA 5 179381306 179381306 single base substitution G A downstream_gene_variant PRAD-CA 5 179381306 179381306 single base substitution G A intron_variant PRAD-CA 5 179383992 179383992 single base substitution T C intron_variant PRAD-CA 5 179383992 179383992 single base substitution T C upstream_gene_variant PRAD-CA 5 179386443 179386443 single base substitution C T intron_variant PRAD-CA 5 179386443 179386443 single base substitution C T upstream_gene_variant PRAD-CA 5 179425857 179425857 single base substitution T A intron_variant PRAD-CA 5 179441289 179441289 single base substitution A T intron_variant PRAD-CA 5 179453073 179453073 single base substitution G A intron_variant PRAD-CA 5 179466573 179466573 single base substitution T C intron_variant PRAD-CA 5 179475500 179475500 single base substitution C T intron_variant PRAD-CA 5 179491860 179491860 single base substitution A C intron_variant PRAD-UK 5 179342442 179342442 single base substitution G A 3_prime_UTR_variant PRAD-UK 5 179357889 179357889 single base substitution A G intron_variant PRAD-UK 5 179365504 179365505 deletion of <=200bp TG - intron_variant PRAD-UK 5 179365795 179365795 single base substitution G C intron_variant PRAD-UK 5 179371763 179371763 single base substitution A C intron_variant PRAD-UK 5 179375070 179375070 single base substitution A T intron_variant PRAD-UK 5 179394008 179394008 single base substitution C A splice_region_variant PRAD-UK 5 179394008 179394008 single base substitution C A upstream_gene_variant PRAD-UK 5 179394696 179394696 single base substitution C T intron_variant PRAD-UK 5 179394696 179394696 single base substitution C T upstream_gene_variant PRAD-UK 5 179401865 179401865 single base substitution G A downstream_gene_variant PRAD-UK 5 179401865 179401865 single base substitution G A intron_variant PRAD-UK 5 179411368 179411368 single base substitution A C intron_variant PRAD-UK 5 179411368 179411368 single base substitution A C upstream_gene_variant PRAD-UK 5 179417847 179417847 single base substitution G A intron_variant PRAD-UK 5 179426804 179426804 single base substitution C T intron_variant PRAD-UK 5 179436996 179436996 single base substitution C A intron_variant PRAD-UK 5 179440588 179440588 single base substitution A T intron_variant PRAD-UK 5 179440773 179440773 single base substitution T C intron_variant PRAD-UK 5 179453686 179453691 deletion of <=200bp ATACTT - intron_variant PRAD-UK 5 179466215 179466215 single base substitution T A intron_variant PRAD-UK 5 179488663 179488663 single base substitution G A intron_variant PRAD-UK 5 179491604 179491604 single base substitution A C intron_variant PRAD-UK 5 179492852 179492852 single base substitution C T intron_variant PRAD-UK 5 179494380 179494380 single base substitution A C intron_variant READ-US 5 179498658 179498658 single base substitution G T exon_variant READ-US 5 179498658 179498658 single base substitution G T synonymous_variant L15L 45C>A RECA-EU 5 179336787 179336787 single base substitution A G downstream_gene_variant RECA-EU 5 179344000 179344000 single base substitution G A 3_prime_UTR_variant RECA-EU 5 179364939 179364939 single base substitution A T intron_variant RECA-EU 5 179379736 179379736 single base substitution G A downstream_gene_variant RECA-EU 5 179379736 179379736 single base substitution G A intron_variant RECA-EU 5 179388977 179388977 single base substitution G C intron_variant RECA-EU 5 179393226 179393226 single base substitution G A downstream_gene_variant RECA-EU 5 179393226 179393226 single base substitution G A intron_variant RECA-EU 5 179393226 179393226 single base substitution G A upstream_gene_variant RECA-EU 5 179395922 179395922 single base substitution G T intron_variant RECA-EU 5 179395922 179395922 single base substitution G T upstream_gene_variant RECA-EU 5 179406917 179406917 single base substitution A T intron_variant RECA-EU 5 179406917 179406917 single base substitution A T upstream_gene_variant RECA-EU 5 179422031 179422031 single base substitution C A intron_variant RECA-EU 5 179451659 179451659 single base substitution C A intron_variant RECA-EU 5 179452436 179452436 single base substitution G A intron_variant RECA-EU 5 179457099 179457099 single base substitution C A intron_variant RECA-EU 5 179472080 179472080 single base substitution T A intron_variant RECA-EU 5 179478512 179478512 single base substitution C G intron_variant RECA-EU 5 179479199 179479199 single base substitution T A intron_variant RECA-EU 5 179480135 179480135 single base substitution G A intron_variant RECA-EU 5 179490383 179490383 single base substitution C A intron_variant RECA-EU 5 179493536 179493536 single base substitution G C intron_variant SKCA-BR 5 179334957 179334957 single base substitution T C downstream_gene_variant SKCA-BR 5 179335289 179335290 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 5 179335807 179335807 single base substitution T G downstream_gene_variant SKCA-BR 5 179336861 179336861 single base substitution C T downstream_gene_variant SKCA-BR 5 179338381 179338381 single base substitution G A downstream_gene_variant SKCA-BR 5 179340733 179340733 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 179341142 179341142 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 179343024 179343024 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 179344190 179344190 insertion of <=200bp - CA 3_prime_UTR_variant SKCA-BR 5 179347797 179347797 single base substitution T A intron_variant SKCA-BR 5 179348301 179348301 single base substitution G A intron_variant SKCA-BR 5 179349019 179349019 single base substitution T G intron_variant SKCA-BR 5 179349313 179349313 single base substitution C T intron_variant SKCA-BR 5 179354565 179354565 single base substitution T C intron_variant SKCA-BR 5 179355025 179355025 single base substitution C A intron_variant SKCA-BR 5 179355946 179355946 single base substitution G A intron_variant SKCA-BR 5 179356747 179356747 insertion of <=200bp - CA intron_variant SKCA-BR 5 179358018 179358018 single base substitution C T intron_variant SKCA-BR 5 179363351 179363351 single base substitution C T intron_variant SKCA-BR 5 179364101 179364101 single base substitution T C intron_variant SKCA-BR 5 179364107 179364107 single base substitution G A intron_variant SKCA-BR 5 179364904 179364904 insertion of <=200bp - CTG intron_variant SKCA-BR 5 179365949 179365949 single base substitution C T intron_variant SKCA-BR 5 179366524 179366524 single base substitution A C intron_variant SKCA-BR 5 179366750 179366750 single base substitution G A intron_variant SKCA-BR 5 179378722 179378722 single base substitution A T downstream_gene_variant SKCA-BR 5 179378722 179378722 single base substitution A T intron_variant SKCA-BR 5 179394619 179394619 single base substitution G A intron_variant SKCA-BR 5 179394619 179394619 single base substitution G A upstream_gene_variant SKCA-BR 5 179394620 179394620 single base substitution T A intron_variant SKCA-BR 5 179394620 179394620 single base substitution T A upstream_gene_variant SKCA-BR 5 179394850 179394850 single base substitution A C intron_variant SKCA-BR 5 179394850 179394850 single base substitution A C upstream_gene_variant SKCA-BR 5 179395493 179395493 single base substitution C G intron_variant SKCA-BR 5 179395493 179395493 single base substitution C G upstream_gene_variant SKCA-BR 5 179396608 179396608 insertion of <=200bp - CT intron_variant SKCA-BR 5 179397064 179397064 single base substitution A G intron_variant SKCA-BR 5 179400814 179400814 single base substitution G A downstream_gene_variant SKCA-BR 5 179400814 179400814 single base substitution G A intron_variant SKCA-BR 5 179403606 179403606 single base substitution A G downstream_gene_variant SKCA-BR 5 179403606 179403606 single base substitution A G intron_variant SKCA-BR 5 179406955 179406955 single base substitution G A intron_variant SKCA-BR 5 179406955 179406955 single base substitution G A upstream_gene_variant SKCA-BR 5 179407885 179407885 single base substitution T C intron_variant SKCA-BR 5 179407885 179407885 single base substitution T C upstream_gene_variant SKCA-BR 5 179408636 179408636 single base substitution C T intron_variant SKCA-BR 5 179408636 179408636 single base substitution C T upstream_gene_variant SKCA-BR 5 179408817 179408817 single base substitution G C intron_variant SKCA-BR 5 179408817 179408817 single base substitution G C upstream_gene_variant SKCA-BR 5 179409619 179409619 single base substitution A G intron_variant SKCA-BR 5 179409619 179409619 single base substitution A G upstream_gene_variant SKCA-BR 5 179412482 179412482 single base substitution G A intron_variant SKCA-BR 5 179412482 179412482 single base substitution G A upstream_gene_variant SKCA-BR 5 179415993 179415993 single base substitution G A intron_variant SKCA-BR 5 179418217 179418217 single base substitution C T intron_variant SKCA-BR 5 179422047 179422047 single base substitution G C intron_variant SKCA-BR 5 179422196 179422196 single base substitution A C intron_variant SKCA-BR 5 179425857 179425857 single base substitution T A intron_variant SKCA-BR 5 179426107 179426107 insertion of <=200bp - CTGCCTTGCAGGT intron_variant SKCA-BR 5 179426264 179426264 single base substitution A C intron_variant SKCA-BR 5 179428479 179428479 single base substitution C T intron_variant SKCA-BR 5 179430695 179430695 single base substitution T A intron_variant SKCA-BR 5 179438638 179438638 single base substitution A G intron_variant SKCA-BR 5 179442524 179442525 deletion of <=200bp AG - intron_variant SKCA-BR 5 179442551 179442551 single base substitution G A intron_variant SKCA-BR 5 179442665 179442665 insertion of <=200bp - AG intron_variant SKCA-BR 5 179442746 179442746 insertion of <=200bp - AGGAAAGGAGTAG intron_variant SKCA-BR 5 179444267 179444267 single base substitution C T intron_variant SKCA-BR 5 179447310 179447310 single base substitution A G intron_variant SKCA-BR 5 179454587 179454587 single base substitution C T intron_variant SKCA-BR 5 179457711 179457711 single base substitution A C intron_variant SKCA-BR 5 179458053 179458053 single base substitution T G intron_variant SKCA-BR 5 179463322 179463322 single base substitution G A intron_variant SKCA-BR 5 179465082 179465082 single base substitution C T intron_variant SKCA-BR 5 179471145 179471145 single base substitution G A intron_variant SKCA-BR 5 179472933 179472933 single base substitution G A intron_variant SKCA-BR 5 179473078 179473078 single base substitution A C intron_variant SKCA-BR 5 179473218 179473218 single base substitution A T intron_variant SKCA-BR 5 179473507 179473507 single base substitution G T intron_variant SKCA-BR 5 179474956 179474956 single base substitution G A intron_variant SKCA-BR 5 179480824 179480825 deletion of <=200bp TC - intron_variant SKCA-BR 5 179480825 179480826 deletion of <=200bp CT - intron_variant SKCA-BR 5 179482260 179482281 deletion of <=200bp AAAAAAAAAAAAAAAAAAAAAC - intron_variant SKCA-BR 5 179482280 179482281 deletion of <=200bp AC - intron_variant SKCA-BR 5 179484701 179484701 single base substitution C T intron_variant SKCA-BR 5 179488537 179488537 single base substitution A C intron_variant SKCA-BR 5 179499044 179499044 single base substitution A G 5_prime_UTR_variant SKCA-BR 5 179499044 179499044 single base substitution A G upstream_gene_variant SKCA-BR 5 179499049 179499049 single base substitution A G 5_prime_UTR_variant SKCA-BR 5 179499049 179499049 single base substitution A G upstream_gene_variant SKCM-US 5 179393941 179393941 single base substitution G T 3_prime_UTR_variant SKCM-US 5 179393941 179393941 single base substitution G T downstream_gene_variant SKCM-US 5 179393941 179393941 single base substitution G T synonymous_variant R339R 1015C>A SKCM-US 5 179393941 179393941 single base substitution G T upstream_gene_variant SKCM-US 5 179407171 179407171 single base substitution G A 3_prime_UTR_variant SKCM-US 5 179407171 179407171 single base substitution G A exon_variant SKCM-US 5 179407171 179407171 single base substitution G A synonymous_variant A241A 723C>T SKCM-US 5 179407171 179407171 single base substitution G A upstream_gene_variant SKCM-US 5 179440119 179440119 single base substitution C T 3_prime_UTR_variant SKCM-US 5 179440119 179440119 single base substitution C T stop_gained W212* 635G>A SKCM-US 5 179467603 179467603 single base substitution G A exon_variant SKCM-US 5 179467603 179467603 single base substitution G A missense_variant P98S 292C>T STAD-US 5 179393912 179393912 single base substitution G A 3_prime_UTR_variant STAD-US 5 179393912 179393912 single base substitution G A downstream_gene_variant STAD-US 5 179393912 179393912 single base substitution G A synonymous_variant G348G 1044C>T STAD-US 5 179393912 179393912 single base substitution G A upstream_gene_variant UCEC-US 5 179393827 179393827 single base substitution C T 3_prime_UTR_variant UCEC-US 5 179393827 179393827 single base substitution C T downstream_gene_variant UCEC-US 5 179393827 179393827 single base substitution C T missense_variant E377K 1129G>A UCEC-US 5 179393827 179393827 single base substitution C T upstream_gene_variant UCEC-US 5 179393884 179393884 single base substitution G A 3_prime_UTR_variant UCEC-US 5 179393884 179393884 single base substitution G A downstream_gene_variant UCEC-US 5 179393884 179393884 single base substitution G A stop_gained R358* 1072C>T UCEC-US 5 179393884 179393884 single base substitution G A upstream_gene_variant UCEC-US 5 179405213 179405213 single base substitution G T 3_prime_UTR_variant UCEC-US 5 179405213 179405213 single base substitution G T exon_variant UCEC-US 5 179405213 179405213 single base substitution G T missense_variant L280I 838C>A UCEC-US 5 179405223 179405223 single base substitution G A 3_prime_UTR_variant UCEC-US 5 179405223 179405223 single base substitution G A exon_variant UCEC-US 5 179405223 179405223 single base substitution G A synonymous_variant V276V 828C>T UCEC-US 5 179407199 179407199 single base substitution C T exon_variant UCEC-US 5 179407199 179407199 single base substitution C T missense_variant R232H 695G>A UCEC-US 5 179407199 179407199 single base substitution C T splice_region_variant UCEC-US 5 179407199 179407199 single base substitution C T upstream_gene_variant UCEC-US 5 179440128 179440128 single base substitution G T 3_prime_UTR_variant UCEC-US 5 179440128 179440128 single base substitution G T missense_variant S209Y 626C>A UCEC-US 5 179440209 179440209 single base substitution C A 3_prime_UTR_variant UCEC-US 5 179440209 179440209 single base substitution C A missense_variant G182V 545G>T UCEC-US 5 179440253 179440253 single base substitution A C 3_prime_UTR_variant UCEC-US 5 179440253 179440253 single base substitution A C missense_variant S167R 501T>G UCEC-US 5 179442309 179442309 single base substitution A G intron_variant UCEC-US 5 179442352 179442352 single base substitution A C intron_variant UCEC-US 5 179467519 179467519 single base substitution T C exon_variant UCEC-US 5 179467519 179467519 single base substitution T C missense_variant N126D 376A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC158 COSM3661759 c.357A>G p.I119M Substitution - Missense 5:180040538-180040538 - TCGA-G2-A2EO-01 COSM1311042 c.1153G>A p.E385K Substitution - Missense 5:179963562-179963562 - HCC66 COSM1620161 c.1068A>G p.P356P Substitution - coding silent 5:179966888-179966888 - TCGA-AZ-4315-01 COSM1436611 c.621T>C p.I207I Substitution - coding silent 5:180013133-180013133 - TCGA-AP-A0LM-01 COSM1066735 c.1129G>A p.E377K Substitution - Missense 5:179966827-179966827 - 587376 COSM284614 c.682G>A p.D228N Substitution - Missense 5:180013072-180013072 - PT33 COSM5908565 c.1090C>T p.P364S Substitution - Missense 5:179966866-179966866 - 0088_CRUK_PC_0088_T1_DNA COSM5423096 c.948G>T p.P316P Substitution - coding silent 5:179967008-179967008 - Gp5D COSM3012082 c.851A>G p.H284R Substitution - Missense 5:179970504-179970504 - Gp2D COSM3012082 c.851A>G p.H284R Substitution - Missense 5:179970504-179970504 - TCGA-LP-A5U2-01 COSM4833806 c.449G>C p.G150A Substitution - Missense 5:180013305-180013305 - TCGA-BF-A1PU-01 COSM4399767 c.1015C>A p.R339R Substitution - coding silent 5:179966941-179966941 - TCGA-CL-4957-01 COSM3749918 c.45C>A p.L15L Substitution - coding silent 5:180071658-180071658 - PTC-88C COSM3723387 c.108G>A p.T36T Substitution - coding silent 5:180071595-180071595 - TCGA-E2-A158-01 COSM449458 c.561G>T p.P187P Substitution - coding silent 5:180013193-180013193 - sysucc-274T COSM5476581 c.341C>T p.T114M Substitution - Missense 5:180040554-180040554 - BN41T COSM1620162 c.644_645insT p.Y216fs*29 Insertion - Frameshift 5:180013109-180013110 - TCGA-C8-A26Y-01 COSM3827859 c.805G>C p.E269Q Substitution - Missense 5:179978246-179978246 - I2L-P19Ta-Tumor-Biopsy COSM5356569 c.732A>T p.K244N Substitution - Missense 5:179980162-179980162 - PTC-6C COSM3749918 c.45C>A p.L15L Substitution - coding silent 5:180071658-180071658 - NCI-H1770 COSM23476 c.1029C>G p.L343L Substitution - coding silent 5:179966927-179966927 - TCGA-BS-A0UF-01 COSM1066740 c.626C>A p.S209Y Substitution - Missense 5:180013128-180013128 - TCGA-D7-6524-01 COSM3854293 c.1044C>T p.G348G Substitution - coding silent 5:179966912-179966912 - HCC62 COSM1620163 c.550C>T p.R184* Substitution - Nonsense 5:180013204-180013204 - ATL038 COSM5709670 c.848A>C p.K283T Substitution - Missense 5:179978203-179978203 - TCGA-AU-6004-01 COSM3749918 c.45C>A p.L15L Substitution - coding silent 5:180071658-180071658 - Pat_32_B COSM5868312 c.1022C>A p.S341* Substitution - Nonsense 5:179966934-179966934 - pfg120T COSM4763866 c.418G>T p.E140* Substitution - Nonsense 5:180040477-180040477 - BD57T COSM5510119 c.871G>A p.V291M Substitution - Missense 5:179970484-179970484 - TCGA-G4-6302-01 COSM3749918 c.45C>A p.L15L Substitution - coding silent 5:180071658-180071658 - TCGA-EE-A183-06 COSM3614819 c.292C>T p.P98S Substitution - Missense 5:180040603-180040603 - TCGA-FS-A1ZW-06 COSM3614818 c.635G>A p.W212* Substitution - Nonsense 5:180013119-180013119 - NCI-H2087 COSM27212 c.256C>T p.H86Y Substitution - Missense 5:180040639-180040639 - ESCC-002T COSM3941275 c.629C>T p.S210L Substitution - Missense 5:180013125-180013125 - HCC158T COSM3661759 c.357A>G p.I119M Substitution - Missense 5:180040538-180040538 - TCGA-DU-5854-01 COSM3975454 c.1073G>A p.R358Q Substitution - Missense 5:179966883-179966883 - AOCS-135-3-1 COSM4141736 c.1191C>G p.A397A Substitution - coding silent 5:179963524-179963524 - HCT15 COSM3012072 c.1221C>A p.A407A Substitution - coding silent 5:179963494-179963494 - TCGA-AG-3898-01 COSM288977 c.780C>T p.D260D Substitution - coding silent 5:179978271-179978271 - 587226 COSM1223893 c.694C>T p.R232C Substitution - Missense 5:179980200-179980200 - TCGA-HP-A5N0-01 COSM1192561 c.1030G>A p.G344S Substitution - Missense 5:179966926-179966926 - TCGA-D1-A16Y-01 COSM1066738 c.828C>T p.V276V Substitution - coding silent 5:179978223-179978223 - TCGA-EB-A41A-01 COSM3614817 c.723C>T p.A241A Substitution - coding silent 5:179980171-179980171 - 443 COSM3661759 c.357A>G p.I119M Substitution - Missense 5:180040538-180040538 - TCGA-B5-A11Y-01 COSM1066739 c.695G>A p.R232H Substitution - Missense 5:179980199-179980199 - TCGA-28-5214-01 COSM3410189 c.1127G>A p.G376E Substitution - Missense 5:179966829-179966829 - BD57T COSM5510120 c.560C>T p.P187L Substitution - Missense 5:180013194-180013194 - SA052 COSM213057 c.262G>C p.G88R Substitution - Missense 5:180040633-180040633 - HN_00466 COSM121759 c.870C>T p.C290C Substitution - coding silent 5:179970485-179970485 - BD173T COSM5500389 c.364G>T p.A122S Substitution - Missense 5:180040531-180040531 - TCGA-AA-3663-01 COSM3723387 c.108G>A p.T36T Substitution - coding silent 5:180071595-180071595 - sysucc-1450T COSM5480186 c.703G>A p.G235R Substitution - Missense 5:179980191-179980191 - PD5944a COSM3854293 c.1044C>T p.G348G Substitution - coding silent 5:179966912-179966912 - PDA_067 COSM5001469 c.680G>A p.R227H Substitution - Missense 5:180013074-180013074 - RK280_C01 COSM4944308 c.982A>G p.M328V Substitution - Missense 5:179966974-179966974 - TCGA-BS-A0UF-01 COSM1066736 c.1072C>T p.R358* Substitution - Nonsense 5:179966884-179966884 - TCGA-A6-6653-01 COSM1436612 c.305_308delAACA p.K102fs*28 Deletion - Frameshift 5:180040587-180040590 - HCC66T COSM1620161 c.1068A>G p.P356P Substitution - coding silent 5:179966888-179966888 - TCGA-24-1847-01 COSM1328865 c.811T>C p.Y271H Substitution - Missense 5:179978240-179978240 - TCGA-BS-A0UF-01 COSM1066742 c.501T>G p.S167R Substitution - Missense 5:180013253-180013253 - HCC2998 COSM3012074 c.1174T>G p.F392V Substitution - Missense 5:179963541-179963541 - TCGA-AA-A010-01 COSM284614 c.682G>A p.D228N Substitution - Missense 5:180013072-180013072 - CH-56-T2 COSM5651107 c.793G>A p.A265T Substitution - Missense 5:179978258-179978258 - PTC-10C COSM3723387 c.108G>A p.T36T Substitution - coding silent 5:180071595-180071595 - TCGA-AA-3663-01 COSM3749918 c.45C>A p.L15L Substitution - coding silent 5:180071658-180071658 - HN_62672 COSM125891 c.765G>T p.K255N Substitution - Missense 5:179980129-179980129 - LUAD-E00918 COSM365339 c.498G>T p.L166F Substitution - Missense 5:180013256-180013256 - PTC-88C COSM3749918 c.45C>A p.L15L Substitution - coding silent 5:180071658-180071658 - DLD1 COSM3012072 c.1221C>A p.A407A Substitution - coding silent 5:179963494-179963494 - TCGA-AX-A0J0-01 COSM1066737 c.838C>A p.L280I Substitution - Missense 5:179978213-179978213 - TCGA-BP-4992-01 COSM482640 c.1257T>C p.F419F Substitution - coding silent 5:179955657-179955657 - sysucc-1028T COSM5469042 c.1245-4A>T p.? Unknown 5:179955673-179955673 - PT33 COSM5908564 c.1091C>T p.P364L Substitution - Missense 5:179966865-179966865 - 2218467 COSM4421357 c.1124C>T p.T375I Substitution - Missense 5:179966832-179966832 - TCGA-A6-2676-01 COSM291177 c.1183_1185delCTC p.L395delL Deletion - In frame 5:179963530-179963532 - I2L-P19Ta-Tumor-Organoid COSM5356569 c.732A>T p.K244N Substitution - Missense 5:179980162-179980162 - TCGA-G4-6302-01 COSM3723387 c.108G>A p.T36T Substitution - coding silent 5:180071595-180071595 - TCGA-AP-A0LM-01 COSM1066741 c.545G>T p.G182V Substitution - Missense 5:180013209-180013209 - 43 COSM3723387 c.108G>A p.T36T Substitution - coding silent 5:180071595-180071595 - CSCC-5-T COSM4552123 c.54G>A p.L18L Substitution - coding silent 5:180071649-180071649 - Au3 COSM5602211 c.679C>T p.R227C Substitution - Missense 5:180013075-180013075 - 587376 COSM1223894 c.625T>C p.S209P Substitution - Missense 5:180013129-180013129 - HCT15 COSM3012079 c.1040C>T p.A347V Substitution - Missense 5:179966916-179966916 - CSCC-35-T COSM4505818 c.702C>T p.L234L Substitution - coding silent 5:179980192-179980192 - PTC-77C COSM3749918 c.45C>A p.L15L Substitution - coding silent 5:180071658-180071658 - SA237 COSM212878 c.559C>A p.P187T Substitution - Missense 5:180013195-180013195 - TCGA-D1-A15X-01 COSM1066743 c.376A>G p.N126D Substitution - Missense 5:180040519-180040519 - YUKLAB COSM1696831 c.409T>C p.S137P Substitution - Missense 5:180040486-180040486 - TCGA-AY-6386-01 COSM3723387 c.108G>A p.T36T Substitution - coding silent 5:180071595-180071595 - CSCC-55-T COSM1066736 c.1072C>T p.R358* Substitution - Nonsense 5:179966884-179966884 - AOCS-135-8-X COSM4141736 c.1191C>G p.A397A Substitution - coding silent 5:179963524-179963524 - HCT8 COSM3012072 c.1221C>A p.A407A Substitution - coding silent 5:179963494-179963494 - TCGA-DU-7018-01 COSM3975455 c.1019G>T p.R340I Substitution - Missense 5:179966937-179966937 - PDA_093 COSM1066739 c.695G>A p.R232H Substitution - Missense 5:179980199-179980199 - NOKSI COSM4596381 c.958T>C p.C320R Substitution - Missense 5:179966998-179966998 - TCGA-G4-6628-01 COSM1223893 c.694C>T p.R232C Substitution - Missense 5:179980200-179980200 - TCGA-CK-4952-01 COSM3723387 c.108G>A p.T36T Substitution - coding silent 5:180071595-180071595 - T16 COSM5344919 c.598A>G p.I200V Substitution - Missense 5:180013156-180013156 - TCGA-32-2634-01 COSM3410190 c.260T>A p.L87Q Substitution - Missense 5:180040635-180040635 - TCGA-41-2575-01 COSM3410188 c.1207A>C p.M403L Substitution - Missense 5:179963508-179963508 - HCC62T COSM1620163 c.550C>T p.R184* Substitution - Nonsense 5:180013204-180013204 - Pat_05_A COSM5868313 c.575G>A p.R192H Substitution - Missense 5:180013179-180013179 - PT33 COSM5908566 c.1079C>T p.S360L Substitution - Missense 5:179966877-179966877 - TCGA-13-0897-01 COSM76258 c.819G>C p.Q273H Substitution - Missense 5:179978232-179978232 - YUMER COSM1696830 c.1108G>A p.E370K Substitution - Missense 5:179966848-179966848 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.484328;Hs.484363 5q35.3 2443632|CGAP|BC108306|A/T|non-coding||1727|Candidate; 2443632|CGAP|BC113864|A/T|non-coding||1162|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G CdsStopSNV . c.1257T>C 5 179382657 RCCC A T Missense p.L87Q c.260T>A 5 179467635 GBM A T Missense p.M185K c.554T>A 5 179440200 HNSC C A Missense p.G348C c.1042G>T 5 179393914 LUAD C A Missense p.K251N c.753G>T 5 179407141 LUAD C A Missense p.K255N c.765G>T 5 179407129 HNSC C A Missense p.R340I c.1019G>T 5 179393937 LGG C A Missense p.V416L c.1246G>T 5 179382668 COREAD C A Synonymous p.P187P c.561G>T 5 179440193 BRCA C G Missense p.E117D c.351G>C 5 179467544 LUAD C G Missense p.G88R c.262G>C 5 179467633 BRCA C G Missense p.Q273H c.819G>C 5 179405232 OV C T Missense p.E385K c.1153G>A 5 179390562 BLCA C T Missense p.G376E c.1127G>A 5 179393829 GBM C T Missense p.R232H c.695G>A 5 179407199 UCEC C T Missense p.R358Q c.1073G>A 5 179393883 LGG C T Nonsense p.W212* c.635G>A 5 179440119 CM G A Missense p.P98S c.292C>T 5 179467603 CM G A Synonymous p.C290C c.870C>T 5 179397485 HNSC G A Synonymous p.D260D c.780C>T 5 179405271 COREAD G A Synonymous p.G348G c.1044C>T 5 179393912 STAD G A Synonymous p.V276V c.828C>T 5 179405223 UCEC G - IntronicDeletion . c.443-2168delC 5 179442479 ESCA G T Missense p.P187T c.559C>A 5 179440195 BRCA G T Synonymous p.R339R c.1015C>A 5 179393941 CM T G Missense p.M403L c.1207A>C 5 179390508 GBM