Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 171318553 171318553 + Missense_Mutation SNP C C T TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr5:171318553C>T c.707G>A c.(706-708)cGc>cAc p.R236H BRCA 5 171295750 171295750 + Silent SNP G G A TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr5:171295750G>A c.1518C>T c.(1516-1518)atC>atT p.I506I CESC 5 171299926 171299926 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 g.chr5:171299926G>A c.1227C>T c.(1225-1227)ctC>ctT p.L409L CESC 5 171305107 171305107 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr5:171305107A>C c.816T>G c.(814-816)tgT>tgG p.C272W COAD 5 171295788 171295788 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr5:171295788G>A c.1480C>T c.(1480-1482)Cgt>Tgt p.R494C COAD 5 171299942 171299942 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:171299942C>T c.1211G>A c.(1210-1212)cGg>cAg p.R404Q COAD 5 171303305 171303305 + Missense_Mutation SNP C C T TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr5:171303305C>T c.1142G>A c.(1141-1143)gGt>gAt p.G381D COAD 5 171305052 171305052 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr5:171305052G>A c.871C>T c.(871-873)Cgt>Tgt p.R291C COAD 5 171305067 171305067 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171305067G>T c.856C>A c.(856-858)Ctg>Atg p.L286M COAD 5 171305076 171305076 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr5:171305076C>T c.847G>A c.(847-849)Gtc>Atc p.V283I COAD 5 171318553 171318553 + Missense_Mutation SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:171318553C>A c.707G>T c.(706-708)cGc>cTc p.R236L COAD 5 171326006 171326006 + Splice_Site SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:171326006A>G c.e5+1 COAD 5 171326969 171326969 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:171326969C>T c.509G>A c.(508-510)cGa>cAa p.R170Q COAD 5 171327013 171327013 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr5:171327013C>T c.465G>A c.(463-465)caG>caA p.Q155Q COAD 5 171337585 171337585 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:171337585C>T c.364G>A c.(364-366)Gct>Act p.A122T COAD 5 171337656 171337656 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:171337656C>T c.293G>A c.(292-294)cGa>cAa p.R98Q COAD 5 171341397 171341397 + Intron SNP T T C TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr5:171341397T>C COADREAD 5 171295788 171295788 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr5:171295788G>A c.1480C>T c.(1480-1482)Cgt>Tgt p.R494C COADREAD 5 171299942 171299942 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:171299942C>T c.1211G>A c.(1210-1212)cGg>cAg p.R404Q COADREAD 5 171303305 171303305 + Missense_Mutation SNP C C T TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr5:171303305C>T c.1142G>A c.(1141-1143)gGt>gAt p.G381D COADREAD 5 171303406 171303406 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:171303406C>T c.1041G>A c.(1039-1041)atG>atA p.M347I COADREAD 5 171305052 171305052 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr5:171305052G>A c.871C>T c.(871-873)Cgt>Tgt p.R291C COADREAD 5 171305067 171305067 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171305067G>T c.856C>A c.(856-858)Ctg>Atg p.L286M COADREAD 5 171305076 171305076 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr5:171305076C>T c.847G>A c.(847-849)Gtc>Atc p.V283I COADREAD 5 171318553 171318553 + Missense_Mutation SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:171318553C>A c.707G>T c.(706-708)cGc>cTc p.R236L COADREAD 5 171326006 171326006 + Splice_Site SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:171326006A>G c.e5+1 COADREAD 5 171326969 171326969 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:171326969C>T c.509G>A c.(508-510)cGa>cAa p.R170Q COADREAD 5 171327013 171327013 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr5:171327013C>T c.465G>A c.(463-465)caG>caA p.Q155Q COADREAD 5 171337585 171337585 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:171337585C>T c.364G>A c.(364-366)Gct>Act p.A122T COADREAD 5 171337656 171337656 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:171337656C>T c.293G>A c.(292-294)cGa>cAa p.R98Q COADREAD 5 171341397 171341397 + Intron SNP T T C TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr5:171341397T>C DLBC 5 171305089 171305089 + Silent SNP T T A TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr5:171305089T>A c.834A>T c.(832-834)ggA>ggT p.G278G ESCA 5 171305017 171305017 + Silent SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr5:171305017C>A c.906G>T c.(904-906)gtG>gtT p.V302V GBM 5 171299943 171299943 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 g.chr5:171299943G>A c.1210C>T c.(1210-1212)Cgg>Tgg p.R404W GBMLGG 5 171299943 171299943 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 g.chr5:171299943G>A c.1210C>T c.(1210-1212)Cgg>Tgg p.R404W GBMLGG 5 171303505 171303505 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:171303505G>A c.942C>T c.(940-942)aaC>aaT p.N314N HNSC 5 171295716 171295716 + Missense_Mutation SNP C C T TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr5:171295716C>T c.1552G>A c.(1552-1554)Gat>Aat p.D518N HNSC 5 171305024 171305024 + Missense_Mutation SNP G G C TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr5:171305024G>C c.899C>G c.(898-900)tCt>tGt p.S300C HNSC 5 171327026 171327026 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 g.chr5:171327026C>T c.452G>A c.(451-453)tGt>tAt p.C151Y KIPAN 5 171299957 171299957 + Missense_Mutation SNP A A G TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr5:171299957A>G c.1196T>C c.(1195-1197)cTc>cCc p.L399P KIRC 5 171299957 171299957 + Missense_Mutation SNP A A G TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr5:171299957A>G c.1196T>C c.(1195-1197)cTc>cCc p.L399P LGG 5 171303505 171303505 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:171303505G>A c.942C>T c.(940-942)aaC>aaT p.N314N LIHC 5 171296743 171296743 + Missense_Mutation SNP C C T TCGA-FV-A23B-01A-11D-A16V-10 TCGA-FV-A23B-11A-11D-A16V-10 g.chr5:171296743C>T c.1457G>A c.(1456-1458)cGc>cAc p.R486H LUAD 5 171318470 171318470 + Splice_Site SNP C C A TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr5:171318470C>A c.e6+1 LUAD 5 171384669 171384669 + Missense_Mutation SNP C C A TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr5:171384669C>A c.79G>T c.(79-81)Gcc>Tcc p.A27S LUSC 5 171297857 171297857 + Missense_Mutation SNP C C G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr5:171297857C>G c.1283G>C c.(1282-1284)tGg>tCg p.W428S LUSC 5 171305017 171305017 + Silent SNP C C A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr5:171305017C>A c.906G>T c.(904-906)gtG>gtT p.V302V OV 5 171318554 171318554 + Missense_Mutation SNP G G A TCGA-24-1551-01A-01W-0551-08 TCGA-24-1551-10A-01W-0551-08 g.chr5:171318554G>A c.706C>T c.(706-708)Cgc>Tgc p.R236C PAAD 5 171303381 171303381 + Missense_Mutation SNP G G A TCGA-FZ-5926-01A-11D-1609-08 TCGA-FZ-5926-11A-01D-1609-08 g.chr5:171303381G>A c.1066C>T c.(1066-1068)Cgc>Tgc p.R356C PAAD 5 171305026 171305026 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:171305026A>G c.897T>C c.(895-897)gaT>gaC p.D299D PAAD 5 171327098 171327098 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:171327098C>T c.380G>A c.(379-381)gGc>gAc p.G127D PRAD 5 171299876 171299876 + Splice_Site SNP C C A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 g.chr5:171299876C>A c.1277G>T c.(1276-1278)aGg>aTg p.R426M PRAD 5 171299983 171299983 + Silent SNP C C A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 g.chr5:171299983C>A c.1170G>T c.(1168-1170)acG>acT p.T390T PRAD 5 171318481 171318481 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 g.chr5:171318481T>C c.779A>G c.(778-780)aAt>aGt p.N260S READ 5 171303406 171303406 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:171303406C>T c.1041G>A c.(1039-1041)atG>atA p.M347I SKCM 5 171295671 171295671 + Missense_Mutation SNP G G A TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr5:171295671G>A c.1597C>T c.(1597-1599)Ccc>Tcc p.P533S SKCM 5 171295697 171295697 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr5:171295697G>A c.1571C>T c.(1570-1572)cCc>cTc p.P524L SKCM 5 171299925 171299925 + Nonsense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr5:171299925G>A c.1228C>T c.(1228-1230)Cag>Tag p.Q410* SKCM 5 171318532 171318532 + Missense_Mutation SNP A A T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:171318532A>T c.728T>A c.(727-729)gTc>gAc p.V243D SKCM 5 171327049 171327049 + Silent SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr5:171327049A>G c.429T>C c.(427-429)tcT>tcC p.S143S SKCM 5 171327068 171327068 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:171327068G>A c.410C>T c.(409-411)tCg>tTg p.S137L SKCM 5 171337701 171337701 + Nonsense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:171337701C>T c.248G>A c.(247-249)tGg>tAg p.W83*

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 171318553 171318553 single base substitution C T 3_prime_UTR_variant BLCA-US 5 171318553 171318553 single base substitution C T exon_variant BLCA-US 5 171318553 171318553 single base substitution C T missense_variant R202H 605G>A BLCA-US 5 171318553 171318553 single base substitution C T missense_variant R204H 611G>A BLCA-US 5 171318553 171318553 single base substitution C T missense_variant R223H 668G>A BLCA-US 5 171318553 171318553 single base substitution C T missense_variant R236H 707G>A BRCA-EU 5 171283775 171283775 insertion of <=200bp - G downstream_gene_variant BRCA-EU 5 171283975 171283975 single base substitution G C downstream_gene_variant BRCA-EU 5 171285165 171285165 single base substitution C G downstream_gene_variant BRCA-EU 5 171288164 171288164 single base substitution G T downstream_gene_variant BRCA-EU 5 171288611 171288611 single base substitution A T 3_prime_UTR_variant BRCA-EU 5 171288611 171288611 single base substitution A T downstream_gene_variant BRCA-EU 5 171289323 171289323 single base substitution G T 3_prime_UTR_variant BRCA-EU 5 171289323 171289323 single base substitution G T downstream_gene_variant BRCA-EU 5 171292558 171292558 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 171292558 171292558 deletion of <=200bp A - intron_variant BRCA-EU 5 171292750 171292750 single base substitution G A downstream_gene_variant BRCA-EU 5 171292750 171292750 single base substitution G A intron_variant BRCA-EU 5 171293681 171293681 single base substitution G T downstream_gene_variant BRCA-EU 5 171293681 171293681 single base substitution G T intron_variant BRCA-EU 5 171294045 171294045 single base substitution G A downstream_gene_variant BRCA-EU 5 171294045 171294045 single base substitution G A intron_variant BRCA-EU 5 171295026 171295026 single base substitution G T exon_variant BRCA-EU 5 171295026 171295026 single base substitution G T intron_variant BRCA-EU 5 171296305 171296305 single base substitution A G intron_variant BRCA-EU 5 171296305 171296305 single base substitution A G upstream_gene_variant BRCA-EU 5 171296780 171296780 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 171296780 171296780 single base substitution G C exon_variant BRCA-EU 5 171296780 171296780 single base substitution G C missense_variant L440V 1318C>G BRCA-EU 5 171296780 171296780 single base substitution G C missense_variant L442V 1324C>G BRCA-EU 5 171296780 171296780 single base substitution G C missense_variant L461V 1381C>G BRCA-EU 5 171296780 171296780 single base substitution G C missense_variant L474V 1420C>G BRCA-EU 5 171296780 171296780 single base substitution G C upstream_gene_variant BRCA-EU 5 171299465 171299465 single base substitution G A downstream_gene_variant BRCA-EU 5 171299465 171299465 single base substitution G A intron_variant BRCA-EU 5 171299465 171299465 single base substitution G A upstream_gene_variant BRCA-EU 5 171301948 171301948 single base substitution T G downstream_gene_variant BRCA-EU 5 171301948 171301948 single base substitution T G intron_variant BRCA-EU 5 171302191 171302191 single base substitution A C downstream_gene_variant BRCA-EU 5 171302191 171302191 single base substitution A C intron_variant BRCA-EU 5 171302603 171302603 single base substitution G A downstream_gene_variant BRCA-EU 5 171302603 171302603 single base substitution G A intron_variant BRCA-EU 5 171305747 171305747 single base substitution C G intron_variant BRCA-EU 5 171305747 171305747 single base substitution C G upstream_gene_variant BRCA-EU 5 171306213 171306213 single base substitution T C intron_variant BRCA-EU 5 171306213 171306213 single base substitution T C upstream_gene_variant BRCA-EU 5 171307806 171307806 single base substitution T C intron_variant BRCA-EU 5 171307806 171307806 single base substitution T C upstream_gene_variant BRCA-EU 5 171308705 171308705 single base substitution C G intron_variant BRCA-EU 5 171308867 171308867 single base substitution G A intron_variant BRCA-EU 5 171311233 171311233 single base substitution G A intron_variant BRCA-EU 5 171311830 171311830 deletion of <=200bp T - intron_variant BRCA-EU 5 171312601 171312601 single base substitution A T intron_variant BRCA-EU 5 171313204 171313204 single base substitution A T intron_variant BRCA-EU 5 171313227 171313227 single base substitution A C intron_variant BRCA-EU 5 171313929 171313929 single base substitution G A intron_variant BRCA-EU 5 171314979 171314979 single base substitution T G intron_variant BRCA-EU 5 171317007 171317007 deletion of <=200bp A - intron_variant BRCA-EU 5 171317313 171317313 single base substitution G C intron_variant BRCA-EU 5 171318806 171318806 single base substitution C A intron_variant BRCA-EU 5 171319715 171319715 deletion of <=200bp T - intron_variant BRCA-EU 5 171320183 171320183 single base substitution G T intron_variant BRCA-EU 5 171322293 171322293 single base substitution C T downstream_gene_variant BRCA-EU 5 171322293 171322293 single base substitution C T intron_variant BRCA-EU 5 171323902 171323902 single base substitution G T downstream_gene_variant BRCA-EU 5 171323902 171323902 single base substitution G T intron_variant BRCA-EU 5 171324044 171324044 single base substitution G A downstream_gene_variant BRCA-EU 5 171324044 171324044 single base substitution G A intron_variant BRCA-EU 5 171324749 171324749 single base substitution T C downstream_gene_variant BRCA-EU 5 171324749 171324749 single base substitution T C intron_variant BRCA-EU 5 171326692 171326692 single base substitution C T downstream_gene_variant BRCA-EU 5 171326692 171326692 single base substitution C T intron_variant BRCA-EU 5 171327570 171327570 single base substitution A T intron_variant BRCA-EU 5 171328031 171328031 single base substitution C T intron_variant BRCA-EU 5 171330570 171330570 single base substitution C T intron_variant BRCA-EU 5 171332051 171332051 single base substitution C G intron_variant BRCA-EU 5 171334879 171334879 single base substitution G A downstream_gene_variant BRCA-EU 5 171334879 171334879 single base substitution G A intron_variant BRCA-EU 5 171335564 171335564 single base substitution G C downstream_gene_variant BRCA-EU 5 171335564 171335564 single base substitution G C intron_variant BRCA-EU 5 171335724 171335724 single base substitution G C downstream_gene_variant BRCA-EU 5 171335724 171335724 single base substitution G C exon_variant BRCA-EU 5 171335724 171335724 single base substitution G C intron_variant BRCA-EU 5 171336979 171336979 single base substitution G A downstream_gene_variant BRCA-EU 5 171336979 171336979 single base substitution G A intron_variant BRCA-EU 5 171336979 171336979 single base substitution G A upstream_gene_variant BRCA-EU 5 171340151 171340151 single base substitution C A intron_variant BRCA-EU 5 171340151 171340151 single base substitution C A upstream_gene_variant BRCA-EU 5 171340651 171340651 single base substitution C T intron_variant BRCA-EU 5 171340651 171340651 single base substitution C T upstream_gene_variant BRCA-EU 5 171341413 171341413 deletion of <=200bp G - intron_variant BRCA-EU 5 171341413 171341413 deletion of <=200bp G - splice_region_variant BRCA-EU 5 171341420 171341420 single base substitution A G intron_variant BRCA-EU 5 171342418 171342418 single base substitution G A intron_variant BRCA-EU 5 171342442 171342442 single base substitution C T intron_variant BRCA-EU 5 171342496 171342496 single base substitution G A intron_variant BRCA-EU 5 171343586 171343586 single base substitution T A intron_variant BRCA-EU 5 171343796 171343796 single base substitution G A intron_variant BRCA-EU 5 171344835 171344835 insertion of <=200bp - TA intron_variant BRCA-EU 5 171346680 171346680 single base substitution C T intron_variant BRCA-EU 5 171346701 171346701 single base substitution G C intron_variant BRCA-EU 5 171347699 171347699 single base substitution C G intron_variant BRCA-EU 5 171347763 171347763 deletion of <=200bp T - intron_variant BRCA-EU 5 171348110 171348110 single base substitution C T intron_variant BRCA-EU 5 171349477 171349477 single base substitution G C intron_variant BRCA-EU 5 171349911 171349912 deletion of <=200bp GT - intron_variant BRCA-EU 5 171350423 171350423 single base substitution G A intron_variant BRCA-EU 5 171352954 171352954 single base substitution T A intron_variant BRCA-EU 5 171355920 171355920 single base substitution T C intron_variant BRCA-EU 5 171356032 171356032 single base substitution G A intron_variant BRCA-EU 5 171356087 171356087 single base substitution A G intron_variant BRCA-EU 5 171356311 171356311 single base substitution T C intron_variant BRCA-EU 5 171356406 171356406 single base substitution A T intron_variant BRCA-EU 5 171356460 171356460 single base substitution C T intron_variant BRCA-EU 5 171358477 171358477 deletion of <=200bp A - intron_variant BRCA-EU 5 171360830 171360830 single base substitution A G intron_variant BRCA-EU 5 171361576 171361576 single base substitution G T intron_variant BRCA-EU 5 171361632 171361632 single base substitution G C intron_variant BRCA-EU 5 171361780 171361780 single base substitution G A intron_variant BRCA-EU 5 171361981 171361981 single base substitution G C intron_variant BRCA-EU 5 171362776 171362776 deletion of <=200bp A - intron_variant BRCA-EU 5 171363331 171363331 deletion of <=200bp A - intron_variant BRCA-EU 5 171364952 171364952 single base substitution T A intron_variant BRCA-EU 5 171365791 171365791 single base substitution T G intron_variant BRCA-EU 5 171365858 171365858 single base substitution G C intron_variant BRCA-EU 5 171366980 171366980 deletion of <=200bp A - intron_variant BRCA-EU 5 171367835 171367835 single base substitution G A intron_variant BRCA-EU 5 171367867 171367867 single base substitution G A intron_variant BRCA-EU 5 171368514 171368514 single base substitution G C intron_variant BRCA-EU 5 171370108 171370108 single base substitution G C intron_variant BRCA-EU 5 171374802 171374802 single base substitution T C intron_variant BRCA-EU 5 171375933 171375933 single base substitution A C intron_variant BRCA-EU 5 171376209 171376209 single base substitution G C intron_variant BRCA-EU 5 171376357 171376357 single base substitution G A intron_variant BRCA-EU 5 171378512 171378512 single base substitution G A intron_variant BRCA-EU 5 171379358 171379358 single base substitution T G intron_variant BRCA-EU 5 171380197 171380197 single base substitution G C intron_variant BRCA-EU 5 171380781 171380781 single base substitution G A intron_variant BRCA-EU 5 171384285 171384285 single base substitution A C intron_variant BRCA-EU 5 171384769 171384769 single base substitution A G intron_variant BRCA-EU 5 171386078 171386078 single base substitution A G intron_variant BRCA-EU 5 171386518 171386518 single base substitution T A intron_variant BRCA-EU 5 171389113 171389113 deletion of <=200bp T - intron_variant BRCA-EU 5 171389212 171389212 single base substitution G T intron_variant BRCA-EU 5 171389484 171389484 single base substitution T G intron_variant BRCA-EU 5 171390596 171390596 deletion of <=200bp T - intron_variant BRCA-EU 5 171391041 171391041 single base substitution C T intron_variant BRCA-EU 5 171392679 171392679 single base substitution G A intron_variant BRCA-EU 5 171394779 171394779 single base substitution G A intron_variant BRCA-EU 5 171396284 171396284 deletion of <=200bp A - intron_variant BRCA-EU 5 171397759 171397759 single base substitution G A intron_variant BRCA-EU 5 171398098 171398098 single base substitution A C intron_variant BRCA-EU 5 171398397 171398397 single base substitution C T intron_variant BRCA-EU 5 171398931 171398949 multiple base substitution (>=2bp and <=200bp) TGAGCCGAGATTGTGTTAT TTAGCCGAAACTGTTAC intron_variant BRCA-EU 5 171399716 171399716 single base substitution T C intron_variant BRCA-EU 5 171399845 171399845 single base substitution G A intron_variant BRCA-EU 5 171401039 171401039 single base substitution G A intron_variant BRCA-EU 5 171401856 171401856 single base substitution C T intron_variant BRCA-EU 5 171403216 171403216 single base substitution G A intron_variant BRCA-EU 5 171405738 171405738 single base substitution G A intron_variant BRCA-EU 5 171405738 171405738 single base substitution G A upstream_gene_variant BRCA-EU 5 171406444 171406444 single base substitution C A intron_variant BRCA-EU 5 171406444 171406444 single base substitution C A upstream_gene_variant BRCA-EU 5 171406457 171406457 single base substitution C T intron_variant BRCA-EU 5 171406457 171406457 single base substitution C T upstream_gene_variant BRCA-EU 5 171406823 171406823 single base substitution C T intron_variant BRCA-EU 5 171406823 171406823 single base substitution C T upstream_gene_variant BRCA-EU 5 171408034 171408034 single base substitution C G intron_variant BRCA-EU 5 171408034 171408034 single base substitution C G upstream_gene_variant BRCA-EU 5 171408783 171408783 single base substitution C T intron_variant BRCA-EU 5 171408783 171408783 single base substitution C T upstream_gene_variant BRCA-EU 5 171410042 171410042 deletion of <=200bp A - intron_variant BRCA-EU 5 171410232 171410232 single base substitution G A intron_variant BRCA-EU 5 171411008 171411034 deletion of <=200bp ACATAATAAAACGGATGAATTTTACAG - intron_variant BRCA-EU 5 171412096 171412096 single base substitution C G intron_variant BRCA-EU 5 171412462 171412462 single base substitution A T intron_variant BRCA-EU 5 171413306 171413306 single base substitution G T intron_variant BRCA-EU 5 171415353 171415353 insertion of <=200bp - A intron_variant BRCA-EU 5 171415597 171415597 single base substitution G A intron_variant BRCA-EU 5 171416821 171416821 single base substitution G A intron_variant BRCA-EU 5 171417968 171417968 single base substitution T G intron_variant BRCA-EU 5 171418887 171418887 single base substitution G C intron_variant BRCA-EU 5 171419301 171419301 single base substitution A T intron_variant BRCA-EU 5 171421808 171421808 single base substitution G A intron_variant BRCA-EU 5 171423261 171423261 single base substitution A G intron_variant BRCA-EU 5 171424296 171424296 single base substitution G C intron_variant BRCA-EU 5 171424296 171424296 single base substitution G C upstream_gene_variant BRCA-EU 5 171425114 171425114 single base substitution C A intron_variant BRCA-EU 5 171425114 171425114 single base substitution C A upstream_gene_variant BRCA-EU 5 171425417 171425417 single base substitution G C intron_variant BRCA-EU 5 171425417 171425417 single base substitution G C upstream_gene_variant BRCA-EU 5 171425622 171425622 single base substitution G A intron_variant BRCA-EU 5 171425622 171425622 single base substitution G A upstream_gene_variant BRCA-EU 5 171429142 171429142 single base substitution G C intron_variant BRCA-EU 5 171431542 171431542 single base substitution G A intron_variant BRCA-EU 5 171433390 171433390 single base substitution G A intron_variant BRCA-EU 5 171433824 171433824 single base substitution A T 5_prime_UTR_variant BRCA-EU 5 171433824 171433824 single base substitution A T upstream_gene_variant BRCA-EU 5 171436960 171436960 single base substitution C T upstream_gene_variant BRCA-FR 5 171285165 171285165 single base substitution C G downstream_gene_variant BRCA-FR 5 171292750 171292750 single base substitution G A downstream_gene_variant BRCA-FR 5 171292750 171292750 single base substitution G A intron_variant BRCA-FR 5 171296780 171296780 single base substitution G C 3_prime_UTR_variant BRCA-FR 5 171296780 171296780 single base substitution G C exon_variant BRCA-FR 5 171296780 171296780 single base substitution G C missense_variant L440V 1318C>G BRCA-FR 5 171296780 171296780 single base substitution G C missense_variant L442V 1324C>G BRCA-FR 5 171296780 171296780 single base substitution G C missense_variant L461V 1381C>G BRCA-FR 5 171296780 171296780 single base substitution G C missense_variant L474V 1420C>G BRCA-FR 5 171296780 171296780 single base substitution G C upstream_gene_variant BRCA-FR 5 171311233 171311233 single base substitution G A intron_variant BRCA-FR 5 171317313 171317313 single base substitution G C intron_variant BRCA-FR 5 171318806 171318806 single base substitution C A intron_variant BRCA-FR 5 171320913 171320913 single base substitution C T intron_variant BRCA-FR 5 171329236 171329236 single base substitution A C intron_variant BRCA-FR 5 171334879 171334879 single base substitution G A downstream_gene_variant BRCA-FR 5 171334879 171334879 single base substitution G A intron_variant BRCA-FR 5 171341420 171341420 single base substitution A G intron_variant BRCA-FR 5 171343796 171343796 single base substitution G A intron_variant BRCA-FR 5 171349477 171349477 single base substitution G C intron_variant BRCA-FR 5 171353768 171353768 single base substitution G C intron_variant BRCA-FR 5 171364652 171364652 single base substitution G A intron_variant BRCA-FR 5 171365791 171365791 single base substitution T G intron_variant BRCA-FR 5 171367835 171367835 single base substitution G A intron_variant BRCA-FR 5 171368514 171368514 single base substitution G C intron_variant BRCA-FR 5 171376209 171376209 single base substitution G C intron_variant BRCA-FR 5 171376357 171376357 single base substitution G A intron_variant BRCA-FR 5 171421808 171421808 single base substitution G A intron_variant BRCA-UK 5 171290963 171290963 single base substitution T G 3_prime_UTR_variant BRCA-UK 5 171290963 171290963 single base substitution T G downstream_gene_variant BRCA-UK 5 171324654 171324654 single base substitution C T downstream_gene_variant BRCA-UK 5 171324654 171324654 single base substitution C T intron_variant BRCA-UK 5 171324749 171324749 single base substitution T C downstream_gene_variant BRCA-UK 5 171324749 171324749 single base substitution T C intron_variant BRCA-UK 5 171331904 171331904 single base substitution G A intron_variant BRCA-UK 5 171338856 171338856 single base substitution G A intron_variant BRCA-UK 5 171338856 171338856 single base substitution G A upstream_gene_variant BRCA-UK 5 171344611 171344611 single base substitution G A intron_variant BRCA-UK 5 171357896 171357896 single base substitution G A intron_variant BRCA-UK 5 171361699 171361699 single base substitution T A intron_variant BRCA-UK 5 171379358 171379358 single base substitution T G intron_variant BRCA-UK 5 171398397 171398397 single base substitution C T intron_variant BRCA-US 5 171295750 171295750 single base substitution G A 3_prime_UTR_variant BRCA-US 5 171295750 171295750 single base substitution G A exon_variant BRCA-US 5 171295750 171295750 single base substitution G A synonymous_variant I472I 1416C>T BRCA-US 5 171295750 171295750 single base substitution G A synonymous_variant I474I 1422C>T BRCA-US 5 171295750 171295750 single base substitution G A synonymous_variant I493I 1479C>T BRCA-US 5 171295750 171295750 single base substitution G A synonymous_variant I506I 1518C>T BRCA-US 5 171295750 171295750 single base substitution G A upstream_gene_variant BTCA-JP 5 171318678 171318678 single base substitution C T intron_variant BTCA-JP 5 171318727 171318727 single base substitution T C intron_variant BTCA-JP 5 171327145 171327145 single base substitution T C intron_variant BTCA-JP 5 171341336 171341336 single base substitution G A intron_variant BTCA-JP 5 171433408 171433408 single base substitution C T intron_variant CESC-US 5 171299926 171299926 single base substitution G A 3_prime_UTR_variant CESC-US 5 171299926 171299926 single base substitution G A downstream_gene_variant CESC-US 5 171299926 171299926 single base substitution G A exon_variant CESC-US 5 171299926 171299926 single base substitution G A synonymous_variant L375L 1125C>T CESC-US 5 171299926 171299926 single base substitution G A synonymous_variant L377L 1131C>T CESC-US 5 171299926 171299926 single base substitution G A synonymous_variant L396L 1188C>T CESC-US 5 171299926 171299926 single base substitution G A synonymous_variant L409L 1227C>T CESC-US 5 171299926 171299926 single base substitution G A upstream_gene_variant CESC-US 5 171305107 171305107 single base substitution A C 3_prime_UTR_variant CESC-US 5 171305107 171305107 single base substitution A C exon_variant CESC-US 5 171305107 171305107 single base substitution A C missense_variant C238W 714T>G CESC-US 5 171305107 171305107 single base substitution A C missense_variant C240W 720T>G CESC-US 5 171305107 171305107 single base substitution A C missense_variant C259W 777T>G CESC-US 5 171305107 171305107 single base substitution A C missense_variant C272W 816T>G CESC-US 5 171305107 171305107 single base substitution A C upstream_gene_variant CLLE-ES 5 171319632 171319632 single base substitution G A intron_variant CLLE-ES 5 171325065 171325065 single base substitution T C downstream_gene_variant CLLE-ES 5 171325065 171325065 single base substitution T C intron_variant CLLE-ES 5 171327447 171327447 single base substitution G C intron_variant CLLE-ES 5 171345391 171345391 single base substitution C A intron_variant CLLE-ES 5 171352876 171352876 single base substitution A C intron_variant CLLE-ES 5 171366415 171366415 single base substitution G T intron_variant CLLE-ES 5 171373795 171373795 single base substitution T A intron_variant CLLE-ES 5 171379457 171379457 single base substitution T A intron_variant CLLE-ES 5 171400940 171400940 single base substitution G T intron_variant CLLE-ES 5 171401465 171401465 single base substitution C T intron_variant CLLE-ES 5 171421606 171421606 single base substitution T C intron_variant CLLE-ES 5 171426299 171426299 single base substitution A G intron_variant CLLE-ES 5 171426299 171426299 single base substitution A G upstream_gene_variant CLLE-ES 5 171433835 171433835 single base substitution T G 5_prime_UTR_variant CLLE-ES 5 171433835 171433835 single base substitution T G upstream_gene_variant CLLE-ES 5 171438507 171438507 single base substitution T G upstream_gene_variant CLLE-ES 5 171438810 171438810 single base substitution T C upstream_gene_variant COAD-US 5 171295788 171295788 single base substitution G A 3_prime_UTR_variant COAD-US 5 171295788 171295788 single base substitution G A exon_variant COAD-US 5 171295788 171295788 single base substitution G A missense_variant R460C 1378C>T COAD-US 5 171295788 171295788 single base substitution G A missense_variant R462C 1384C>T COAD-US 5 171295788 171295788 single base substitution G A missense_variant R481C 1441C>T COAD-US 5 171295788 171295788 single base substitution G A missense_variant R494C 1480C>T COAD-US 5 171295788 171295788 single base substitution G A upstream_gene_variant COAD-US 5 171305076 171305076 single base substitution C T 3_prime_UTR_variant COAD-US 5 171305076 171305076 single base substitution C T exon_variant COAD-US 5 171305076 171305076 single base substitution C T missense_variant V249I 745G>A COAD-US 5 171305076 171305076 single base substitution C T missense_variant V251I 751G>A COAD-US 5 171305076 171305076 single base substitution C T missense_variant V270I 808G>A COAD-US 5 171305076 171305076 single base substitution C T missense_variant V283I 847G>A COAD-US 5 171305076 171305076 single base substitution C T upstream_gene_variant COAD-US 5 171326006 171326006 single base substitution A G downstream_gene_variant COAD-US 5 171326006 171326006 single base substitution A G splice_donor_variant COAD-US 5 171327013 171327013 single base substitution C T 3_prime_UTR_variant COAD-US 5 171327013 171327013 single base substitution C T exon_variant COAD-US 5 171327013 171327013 single base substitution C T synonymous_variant Q121Q 363G>A COAD-US 5 171327013 171327013 single base substitution C T synonymous_variant Q123Q 369G>A COAD-US 5 171327013 171327013 single base substitution C T synonymous_variant Q142Q 426G>A COAD-US 5 171327013 171327013 single base substitution C T synonymous_variant Q155Q 465G>A COAD-US 5 171327013 171327013 single base substitution C T synonymous_variant Q176Q 528G>A COAD-US 5 171327029 171327029 single base substitution A G 3_prime_UTR_variant COAD-US 5 171327029 171327029 single base substitution A G exon_variant COAD-US 5 171327029 171327029 single base substitution A G missense_variant V116A 347T>C COAD-US 5 171327029 171327029 single base substitution A G missense_variant V118A 353T>C COAD-US 5 171327029 171327029 single base substitution A G missense_variant V137A 410T>C COAD-US 5 171327029 171327029 single base substitution A G missense_variant V150A 449T>C COAD-US 5 171327029 171327029 single base substitution A G missense_variant V171A 512T>C COAD-US 5 171337656 171337656 single base substitution C T 3_prime_UTR_variant COAD-US 5 171337656 171337656 single base substitution C T downstream_gene_variant COAD-US 5 171337656 171337656 single base substitution C T missense_variant R119Q 356G>A COAD-US 5 171337656 171337656 single base substitution C T missense_variant R64Q 191G>A COAD-US 5 171337656 171337656 single base substitution C T missense_variant R66Q 197G>A COAD-US 5 171337656 171337656 single base substitution C T missense_variant R85Q 254G>A COAD-US 5 171337656 171337656 single base substitution C T missense_variant R98Q 293G>A COAD-US 5 171337656 171337656 single base substitution C T upstream_gene_variant COAD-US 5 171433499 171433499 single base substitution G T exon_variant COAD-US 5 171433499 171433499 single base substitution G T missense_variant P3H 8C>A COCA-CN 5 171305604 171305604 single base substitution G C intron_variant COCA-CN 5 171305604 171305604 single base substitution G C upstream_gene_variant COCA-CN 5 171337844 171337844 single base substitution G T intron_variant COCA-CN 5 171337844 171337844 single base substitution G T upstream_gene_variant COCA-CN 5 171341344 171341344 single base substitution T G intron_variant COCA-CN 5 171341344 171341344 single base substitution T G splice_region_variant COCA-CN 5 171384747 171384747 single base substitution C T intron_variant COCA-CN 5 171396608 171396608 single base substitution G A intron_variant COCA-CN 5 171399129 171399129 single base substitution T A intron_variant COCA-CN 5 171405178 171405178 single base substitution A G intron_variant COCA-CN 5 171405178 171405178 single base substitution A G upstream_gene_variant COCA-CN 5 171408369 171408369 single base substitution C T intron_variant COCA-CN 5 171408369 171408369 single base substitution C T upstream_gene_variant COCA-CN 5 171431873 171431873 single base substitution A G intron_variant COCA-CN 5 171433525 171433525 single base substitution G A 5_prime_UTR_variant COCA-CN 5 171433525 171433525 single base substitution G A exon_variant EOPC-DE 5 171361857 171361857 single base substitution T A intron_variant EOPC-DE 5 171364221 171364221 single base substitution A T intron_variant EOPC-DE 5 171415598 171415598 single base substitution T C intron_variant ESAD-UK 5 171285853 171285853 single base substitution A G downstream_gene_variant ESAD-UK 5 171286744 171286744 single base substitution C T downstream_gene_variant ESAD-UK 5 171286816 171286816 single base substitution C T downstream_gene_variant ESAD-UK 5 171291781 171291782 deletion of <=200bp AC - downstream_gene_variant ESAD-UK 5 171291781 171291782 deletion of <=200bp AC - intron_variant ESAD-UK 5 171293940 171293940 single base substitution C G downstream_gene_variant ESAD-UK 5 171293940 171293940 single base substitution C G intron_variant ESAD-UK 5 171294467 171294467 insertion of <=200bp - C downstream_gene_variant ESAD-UK 5 171294467 171294467 insertion of <=200bp - C intron_variant ESAD-UK 5 171295706 171295706 single base substitution T A 3_prime_UTR_variant ESAD-UK 5 171295706 171295706 single base substitution T A exon_variant ESAD-UK 5 171295706 171295706 single base substitution T A missense_variant N487I 1460A>T ESAD-UK 5 171295706 171295706 single base substitution T A missense_variant N489I 1466A>T ESAD-UK 5 171295706 171295706 single base substitution T A missense_variant N508I 1523A>T ESAD-UK 5 171295706 171295706 single base substitution T A missense_variant N521I 1562A>T ESAD-UK 5 171295706 171295706 single base substitution T A upstream_gene_variant ESAD-UK 5 171296949 171296949 single base substitution T C intron_variant ESAD-UK 5 171296949 171296949 single base substitution T C upstream_gene_variant ESAD-UK 5 171297084 171297084 single base substitution T G intron_variant ESAD-UK 5 171297084 171297084 single base substitution T G upstream_gene_variant ESAD-UK 5 171297459 171297459 single base substitution A G intron_variant ESAD-UK 5 171297459 171297459 single base substitution A G upstream_gene_variant ESAD-UK 5 171300794 171300794 single base substitution C T downstream_gene_variant ESAD-UK 5 171300794 171300794 single base substitution C T intron_variant ESAD-UK 5 171301620 171301620 single base substitution G C downstream_gene_variant ESAD-UK 5 171301620 171301620 single base substitution G C intron_variant ESAD-UK 5 171305139 171305139 single base substitution G A splice_region_variant ESAD-UK 5 171305139 171305139 single base substitution G A upstream_gene_variant ESAD-UK 5 171308498 171308498 single base substitution C T intron_variant ESAD-UK 5 171312405 171312405 single base substitution G A intron_variant ESAD-UK 5 171312931 171312931 deletion of <=200bp A - intron_variant ESAD-UK 5 171314606 171314606 single base substitution G A intron_variant ESAD-UK 5 171314702 171314702 single base substitution C G intron_variant ESAD-UK 5 171316856 171316856 single base substitution C T intron_variant ESAD-UK 5 171317875 171317875 single base substitution A T intron_variant ESAD-UK 5 171318831 171318831 single base substitution C T intron_variant ESAD-UK 5 171320102 171320102 single base substitution C T intron_variant ESAD-UK 5 171320214 171320214 single base substitution C T intron_variant ESAD-UK 5 171321802 171321802 single base substitution C A intron_variant ESAD-UK 5 171326466 171326466 single base substitution G A downstream_gene_variant ESAD-UK 5 171326466 171326466 single base substitution G A intron_variant ESAD-UK 5 171328945 171328945 single base substitution C A intron_variant ESAD-UK 5 171330824 171330824 single base substitution T A intron_variant ESAD-UK 5 171330825 171330825 insertion of <=200bp - A intron_variant ESAD-UK 5 171330825 171330825 single base substitution A T intron_variant ESAD-UK 5 171331149 171331149 single base substitution A G intron_variant ESAD-UK 5 171334118 171334118 single base substitution G A downstream_gene_variant ESAD-UK 5 171334118 171334118 single base substitution G A intron_variant ESAD-UK 5 171335109 171335109 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 171335109 171335109 deletion of <=200bp A - intron_variant ESAD-UK 5 171336116 171336116 single base substitution T A downstream_gene_variant ESAD-UK 5 171336116 171336116 single base substitution T A intron_variant ESAD-UK 5 171336116 171336116 single base substitution T A upstream_gene_variant ESAD-UK 5 171336996 171336996 single base substitution A C downstream_gene_variant ESAD-UK 5 171336996 171336996 single base substitution A C intron_variant ESAD-UK 5 171336996 171336996 single base substitution A C upstream_gene_variant ESAD-UK 5 171349755 171349755 single base substitution C G intron_variant ESAD-UK 5 171354194 171354194 single base substitution A G intron_variant ESAD-UK 5 171356143 171356143 single base substitution G T intron_variant ESAD-UK 5 171358361 171358361 single base substitution G A intron_variant ESAD-UK 5 171361892 171361892 single base substitution C T intron_variant ESAD-UK 5 171365729 171365729 single base substitution G T intron_variant ESAD-UK 5 171367521 171367521 single base substitution G C intron_variant ESAD-UK 5 171367530 171367530 single base substitution C T intron_variant ESAD-UK 5 171372498 171372498 single base substitution G T intron_variant ESAD-UK 5 171373648 171373648 single base substitution G C intron_variant ESAD-UK 5 171376638 171376638 single base substitution A C intron_variant ESAD-UK 5 171379049 171379049 single base substitution C T intron_variant ESAD-UK 5 171383026 171383026 single base substitution A G intron_variant ESAD-UK 5 171386364 171386364 single base substitution C T intron_variant ESAD-UK 5 171394548 171394548 single base substitution A G intron_variant ESAD-UK 5 171395881 171395881 single base substitution C T intron_variant ESAD-UK 5 171398202 171398202 single base substitution C T intron_variant ESAD-UK 5 171398338 171398338 single base substitution A C intron_variant ESAD-UK 5 171398865 171398865 single base substitution G A intron_variant ESAD-UK 5 171401164 171401164 single base substitution C T intron_variant ESAD-UK 5 171401762 171401762 single base substitution C G intron_variant ESAD-UK 5 171401839 171401839 single base substitution C T intron_variant ESAD-UK 5 171401921 171401921 single base substitution T A intron_variant ESAD-UK 5 171403499 171403504 deletion of <=200bp TGGAAA - intron_variant ESAD-UK 5 171403665 171403665 single base substitution C T intron_variant ESAD-UK 5 171404200 171404200 single base substitution C G intron_variant ESAD-UK 5 171404202 171404202 single base substitution G T intron_variant ESAD-UK 5 171404797 171404797 single base substitution C T intron_variant ESAD-UK 5 171404797 171404797 single base substitution C T upstream_gene_variant ESAD-UK 5 171407555 171407555 deletion of <=200bp A - intron_variant ESAD-UK 5 171407555 171407555 deletion of <=200bp A - upstream_gene_variant ESAD-UK 5 171410109 171410109 single base substitution G A intron_variant ESAD-UK 5 171413049 171413049 single base substitution G T intron_variant ESAD-UK 5 171413541 171413541 single base substitution G A intron_variant ESAD-UK 5 171415753 171415753 single base substitution G A intron_variant ESAD-UK 5 171418992 171418992 single base substitution G A intron_variant ESAD-UK 5 171419450 171419453 deletion of <=200bp GAGA - intron_variant ESAD-UK 5 171420152 171420152 single base substitution G C intron_variant ESAD-UK 5 171422032 171422032 single base substitution T A intron_variant ESAD-UK 5 171423162 171423162 single base substitution C T intron_variant ESAD-UK 5 171427006 171427006 single base substitution G C intron_variant ESAD-UK 5 171427006 171427006 single base substitution G C upstream_gene_variant ESAD-UK 5 171431685 171431685 deletion of <=200bp G - intron_variant ESAD-UK 5 171436205 171436205 single base substitution C T upstream_gene_variant ESAD-UK 5 171437476 171437476 single base substitution C G upstream_gene_variant ESAD-UK 5 171438459 171438459 single base substitution G A upstream_gene_variant ESCA-CN 5 171423823 171423823 single base substitution A G intron_variant GBM-US 5 171299943 171299943 single base substitution G A 3_prime_UTR_variant GBM-US 5 171299943 171299943 single base substitution G A downstream_gene_variant GBM-US 5 171299943 171299943 single base substitution G A exon_variant GBM-US 5 171299943 171299943 single base substitution G A missense_variant R370W 1108C>T GBM-US 5 171299943 171299943 single base substitution G A missense_variant R372W 1114C>T GBM-US 5 171299943 171299943 single base substitution G A missense_variant R391W 1171C>T GBM-US 5 171299943 171299943 single base substitution G A missense_variant R404W 1210C>T GBM-US 5 171299943 171299943 single base substitution G A upstream_gene_variant KIRC-US 5 171299957 171299957 single base substitution A G 3_prime_UTR_variant KIRC-US 5 171299957 171299957 single base substitution A G downstream_gene_variant KIRC-US 5 171299957 171299957 single base substitution A G exon_variant KIRC-US 5 171299957 171299957 single base substitution A G missense_variant L365P 1094T>C KIRC-US 5 171299957 171299957 single base substitution A G missense_variant L367P 1100T>C KIRC-US 5 171299957 171299957 single base substitution A G missense_variant L386P 1157T>C KIRC-US 5 171299957 171299957 single base substitution A G missense_variant L399P 1196T>C KIRC-US 5 171299957 171299957 single base substitution A G upstream_gene_variant LAML-CN 5 171297827 171297827 single base substitution A T 3_prime_UTR_variant LAML-CN 5 171297827 171297827 single base substitution A T exon_variant LAML-CN 5 171297827 171297827 single base substitution A T missense_variant V404D 1211T>A LAML-CN 5 171297827 171297827 single base substitution A T missense_variant V406D 1217T>A LAML-CN 5 171297827 171297827 single base substitution A T missense_variant V425D 1274T>A LAML-CN 5 171297827 171297827 single base substitution A T missense_variant V438D 1313T>A LAML-CN 5 171297827 171297827 single base substitution A T upstream_gene_variant LAML-KR 5 171340822 171340822 single base substitution T C intron_variant LAML-KR 5 171340822 171340822 single base substitution T C upstream_gene_variant LAML-KR 5 171399206 171399206 single base substitution T C intron_variant LAML-KR 5 171399239 171399239 single base substitution G T intron_variant LAML-KR 5 171399250 171399250 single base substitution G C intron_variant LAML-KR 5 171399251 171399251 single base substitution G A intron_variant LICA-CN 5 171296787 171296787 single base substitution T C 3_prime_UTR_variant LICA-CN 5 171296787 171296787 single base substitution T C exon_variant LICA-CN 5 171296787 171296787 single base substitution T C synonymous_variant Q437Q 1311A>G LICA-CN 5 171296787 171296787 single base substitution T C synonymous_variant Q439Q 1317A>G LICA-CN 5 171296787 171296787 single base substitution T C synonymous_variant Q458Q 1374A>G LICA-CN 5 171296787 171296787 single base substitution T C synonymous_variant Q471Q 1413A>G LICA-CN 5 171296787 171296787 single base substitution T C upstream_gene_variant LICA-CN 5 171303312 171303312 single base substitution C A 3_prime_UTR_variant LICA-CN 5 171303312 171303312 single base substitution C A downstream_gene_variant LICA-CN 5 171303312 171303312 single base substitution C A missense_variant A345S 1033G>T LICA-CN 5 171303312 171303312 single base substitution C A missense_variant A347S 1039G>T LICA-CN 5 171303312 171303312 single base substitution C A missense_variant A366S 1096G>T LICA-CN 5 171303312 171303312 single base substitution C A missense_variant A379S 1135G>T LICA-CN 5 171303312 171303312 single base substitution C A upstream_gene_variant LICA-FR 5 171305609 171305609 single base substitution T A intron_variant LICA-FR 5 171305609 171305609 single base substitution T A upstream_gene_variant LICA-FR 5 171322794 171322794 single base substitution G T downstream_gene_variant LICA-FR 5 171322794 171322794 single base substitution G T intron_variant LICA-FR 5 171327543 171327543 single base substitution C T intron_variant LICA-FR 5 171332235 171332235 single base substitution T A intron_variant LICA-FR 5 171347421 171347422 deletion of <=200bp AA - intron_variant LICA-FR 5 171350911 171350911 single base substitution A C intron_variant LICA-FR 5 171356373 171356373 insertion of <=200bp - A intron_variant LICA-FR 5 171375231 171375231 single base substitution T A intron_variant LICA-FR 5 171383741 171383741 single base substitution A G intron_variant LICA-FR 5 171383753 171383753 single base substitution T C intron_variant LICA-FR 5 171383763 171383763 single base substitution A C intron_variant LICA-FR 5 171386862 171386862 insertion of <=200bp - AAG intron_variant LICA-FR 5 171388661 171388661 single base substitution T C intron_variant LICA-FR 5 171411549 171411549 single base substitution C T intron_variant LICA-FR 5 171412560 171412560 single base substitution G C intron_variant LICA-FR 5 171423069 171423069 single base substitution T C intron_variant LIHC-US 5 171296743 171296743 single base substitution C T 3_prime_UTR_variant LIHC-US 5 171296743 171296743 single base substitution C T exon_variant LIHC-US 5 171296743 171296743 single base substitution C T missense_variant R452H 1355G>A LIHC-US 5 171296743 171296743 single base substitution C T missense_variant R454H 1361G>A LIHC-US 5 171296743 171296743 single base substitution C T missense_variant R473H 1418G>A LIHC-US 5 171296743 171296743 single base substitution C T missense_variant R486H 1457G>A LIHC-US 5 171296743 171296743 single base substitution C T upstream_gene_variant LINC-JP 5 171296858 171296858 single base substitution T C intron_variant LINC-JP 5 171296858 171296858 single base substitution T C upstream_gene_variant LINC-JP 5 171310284 171310284 single base substitution T C intron_variant LINC-JP 5 171317228 171317228 single base substitution T C intron_variant LINC-JP 5 171318897 171318897 single base substitution C A intron_variant LINC-JP 5 171333586 171333586 single base substitution T C downstream_gene_variant LINC-JP 5 171333586 171333586 single base substitution T C intron_variant LINC-JP 5 171337827 171337827 single base substitution T C intron_variant LINC-JP 5 171337827 171337827 single base substitution T C upstream_gene_variant LINC-JP 5 171340408 171340408 single base substitution T C intron_variant LINC-JP 5 171340408 171340408 single base substitution T C upstream_gene_variant LINC-JP 5 171351221 171351221 single base substitution C A intron_variant LINC-JP 5 171379958 171379958 single base substitution A G intron_variant LINC-JP 5 171389200 171389200 single base substitution C T intron_variant LINC-JP 5 171397640 171397640 single base substitution T C intron_variant LINC-JP 5 171414483 171414483 single base substitution G A intron_variant LINC-JP 5 171435559 171435559 single base substitution G A upstream_gene_variant LINC-JP 5 171436271 171436271 single base substitution T C upstream_gene_variant LIRI-JP 5 171284266 171284266 single base substitution G C downstream_gene_variant LIRI-JP 5 171284322 171284322 single base substitution A G downstream_gene_variant LIRI-JP 5 171284655 171284656 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 5 171285408 171285408 single base substitution T C downstream_gene_variant LIRI-JP 5 171285660 171285660 single base substitution C G downstream_gene_variant LIRI-JP 5 171285850 171285850 single base substitution G A downstream_gene_variant LIRI-JP 5 171286730 171286730 single base substitution T C downstream_gene_variant LIRI-JP 5 171287161 171287161 single base substitution G C downstream_gene_variant LIRI-JP 5 171287335 171287335 single base substitution T C downstream_gene_variant LIRI-JP 5 171287479 171287479 single base substitution A G downstream_gene_variant LIRI-JP 5 171288292 171288292 single base substitution A G downstream_gene_variant LIRI-JP 5 171288984 171288984 single base substitution C T 3_prime_UTR_variant LIRI-JP 5 171288984 171288984 single base substitution C T downstream_gene_variant LIRI-JP 5 171294880 171294880 single base substitution T C exon_variant LIRI-JP 5 171294880 171294880 single base substitution T C intron_variant LIRI-JP 5 171296820 171296820 single base substitution G C intron_variant LIRI-JP 5 171296820 171296820 single base substitution G C upstream_gene_variant LIRI-JP 5 171298042 171298042 single base substitution G C intron_variant LIRI-JP 5 171298042 171298042 single base substitution G C upstream_gene_variant LIRI-JP 5 171299508 171299508 single base substitution G A downstream_gene_variant LIRI-JP 5 171299508 171299508 single base substitution G A intron_variant LIRI-JP 5 171299508 171299508 single base substitution G A upstream_gene_variant LIRI-JP 5 171301075 171301075 single base substitution G A downstream_gene_variant LIRI-JP 5 171301075 171301075 single base substitution G A intron_variant LIRI-JP 5 171301468 171301468 single base substitution T C downstream_gene_variant LIRI-JP 5 171301468 171301468 single base substitution T C intron_variant LIRI-JP 5 171302817 171302817 single base substitution G A downstream_gene_variant LIRI-JP 5 171302817 171302817 single base substitution G A intron_variant LIRI-JP 5 171304144 171304144 single base substitution T A intron_variant LIRI-JP 5 171304144 171304144 single base substitution T A upstream_gene_variant LIRI-JP 5 171306063 171306063 single base substitution T C intron_variant LIRI-JP 5 171306063 171306063 single base substitution T C upstream_gene_variant LIRI-JP 5 171307628 171307628 single base substitution T C intron_variant LIRI-JP 5 171307628 171307628 single base substitution T C upstream_gene_variant LIRI-JP 5 171310513 171310513 single base substitution C T intron_variant LIRI-JP 5 171311402 171311402 single base substitution T C intron_variant LIRI-JP 5 171313716 171313716 single base substitution T C intron_variant LIRI-JP 5 171314206 171314206 single base substitution T A intron_variant LIRI-JP 5 171314777 171314777 single base substitution T G intron_variant LIRI-JP 5 171315769 171315769 single base substitution T C intron_variant LIRI-JP 5 171318385 171318385 single base substitution T C intron_variant LIRI-JP 5 171319316 171319316 single base substitution A C intron_variant LIRI-JP 5 171319962 171319962 single base substitution T C intron_variant LIRI-JP 5 171320529 171320529 single base substitution C A intron_variant LIRI-JP 5 171322541 171322541 single base substitution A C downstream_gene_variant LIRI-JP 5 171322541 171322541 single base substitution A C intron_variant LIRI-JP 5 171322804 171322804 single base substitution C A downstream_gene_variant LIRI-JP 5 171322804 171322804 single base substitution C A intron_variant LIRI-JP 5 171324275 171324275 single base substitution T G downstream_gene_variant LIRI-JP 5 171324275 171324275 single base substitution T G intron_variant LIRI-JP 5 171326477 171326477 single base substitution C A downstream_gene_variant LIRI-JP 5 171326477 171326477 single base substitution C A intron_variant LIRI-JP 5 171328681 171328681 single base substitution T C intron_variant LIRI-JP 5 171330401 171330401 single base substitution T C intron_variant LIRI-JP 5 171331176 171331176 single base substitution A T intron_variant LIRI-JP 5 171331647 171331647 single base substitution C A intron_variant LIRI-JP 5 171332017 171332017 single base substitution T C intron_variant LIRI-JP 5 171333040 171333040 deletion of <=200bp T - downstream_gene_variant LIRI-JP 5 171333040 171333040 deletion of <=200bp T - intron_variant LIRI-JP 5 171335886 171335886 single base substitution A G downstream_gene_variant LIRI-JP 5 171335886 171335886 single base substitution A G intron_variant LIRI-JP 5 171335886 171335886 single base substitution A G upstream_gene_variant LIRI-JP 5 171336464 171336464 single base substitution C T downstream_gene_variant LIRI-JP 5 171336464 171336464 single base substitution C T intron_variant LIRI-JP 5 171336464 171336464 single base substitution C T upstream_gene_variant LIRI-JP 5 171337556 171337556 single base substitution G A downstream_gene_variant LIRI-JP 5 171337556 171337556 single base substitution G A intron_variant LIRI-JP 5 171337556 171337556 single base substitution G A upstream_gene_variant LIRI-JP 5 171338189 171338189 single base substitution G A intron_variant LIRI-JP 5 171338189 171338189 single base substitution G A upstream_gene_variant LIRI-JP 5 171339188 171339188 single base substitution T C intron_variant LIRI-JP 5 171339188 171339188 single base substitution T C upstream_gene_variant LIRI-JP 5 171346140 171346140 single base substitution T C intron_variant LIRI-JP 5 171346960 171346960 single base substitution G A intron_variant LIRI-JP 5 171350138 171350138 single base substitution G A intron_variant LIRI-JP 5 171351582 171351582 single base substitution T C intron_variant LIRI-JP 5 171351844 171351844 single base substitution C T intron_variant LIRI-JP 5 171353808 171353808 single base substitution T C intron_variant LIRI-JP 5 171354449 171354449 single base substitution T A intron_variant LIRI-JP 5 171354861 171354861 single base substitution G C intron_variant LIRI-JP 5 171355530 171355530 single base substitution A G intron_variant LIRI-JP 5 171356540 171356540 single base substitution T C intron_variant LIRI-JP 5 171356729 171356729 single base substitution G C intron_variant LIRI-JP 5 171358162 171358162 single base substitution A T intron_variant LIRI-JP 5 171358512 171358512 single base substitution T C intron_variant LIRI-JP 5 171359238 171359238 single base substitution C T intron_variant LIRI-JP 5 171360617 171360617 single base substitution A G intron_variant LIRI-JP 5 171361081 171361081 single base substitution T A intron_variant LIRI-JP 5 171361907 171361907 single base substitution G C intron_variant LIRI-JP 5 171365130 171365130 single base substitution T C intron_variant LIRI-JP 5 171365132 171365132 single base substitution G A intron_variant LIRI-JP 5 171365237 171365237 single base substitution T C intron_variant LIRI-JP 5 171365860 171365860 single base substitution T C intron_variant LIRI-JP 5 171365875 171365875 single base substitution A G intron_variant LIRI-JP 5 171370311 171370311 single base substitution T A intron_variant LIRI-JP 5 171371935 171371935 single base substitution T G intron_variant LIRI-JP 5 171374934 171374934 single base substitution T C intron_variant LIRI-JP 5 171376157 171376158 deletion of <=200bp AA - intron_variant LIRI-JP 5 171376942 171376942 single base substitution A G intron_variant LIRI-JP 5 171378831 171378831 single base substitution G C intron_variant LIRI-JP 5 171379237 171379237 single base substitution T C intron_variant LIRI-JP 5 171381831 171381831 single base substitution A G intron_variant LIRI-JP 5 171382404 171382404 single base substitution G C intron_variant LIRI-JP 5 171383005 171383005 single base substitution T C intron_variant LIRI-JP 5 171383160 171383160 single base substitution A C intron_variant LIRI-JP 5 171383291 171383291 single base substitution A C intron_variant LIRI-JP 5 171385399 171385399 single base substitution A G intron_variant LIRI-JP 5 171385471 171385471 deletion of <=200bp A - intron_variant LIRI-JP 5 171385823 171385823 single base substitution C A intron_variant LIRI-JP 5 171385882 171385882 single base substitution T C intron_variant LIRI-JP 5 171385968 171385968 single base substitution T C intron_variant LIRI-JP 5 171390216 171390216 single base substitution T C intron_variant LIRI-JP 5 171391698 171391698 single base substitution A G intron_variant LIRI-JP 5 171394581 171394581 single base substitution T C intron_variant LIRI-JP 5 171395004 171395004 single base substitution T C intron_variant LIRI-JP 5 171396597 171396597 single base substitution T C intron_variant LIRI-JP 5 171397703 171397703 single base substitution T C intron_variant LIRI-JP 5 171400496 171400496 single base substitution A C intron_variant LIRI-JP 5 171400673 171400673 single base substitution A G intron_variant LIRI-JP 5 171401825 171401825 single base substitution T C intron_variant LIRI-JP 5 171402454 171402454 single base substitution C T intron_variant LIRI-JP 5 171404544 171404544 single base substitution C T intron_variant LIRI-JP 5 171405581 171405581 single base substitution T A intron_variant LIRI-JP 5 171405581 171405581 single base substitution T A upstream_gene_variant LIRI-JP 5 171406396 171406396 single base substitution T C intron_variant LIRI-JP 5 171406396 171406396 single base substitution T C upstream_gene_variant LIRI-JP 5 171407267 171407267 single base substitution A G intron_variant LIRI-JP 5 171407267 171407267 single base substitution A G upstream_gene_variant LIRI-JP 5 171407690 171407690 single base substitution G C intron_variant LIRI-JP 5 171407690 171407690 single base substitution G C upstream_gene_variant LIRI-JP 5 171407941 171407941 single base substitution C G intron_variant LIRI-JP 5 171407941 171407941 single base substitution C G upstream_gene_variant LIRI-JP 5 171408409 171408409 single base substitution A G intron_variant LIRI-JP 5 171408409 171408409 single base substitution A G upstream_gene_variant LIRI-JP 5 171409732 171409732 single base substitution C T intron_variant LIRI-JP 5 171409732 171409732 single base substitution C T upstream_gene_variant LIRI-JP 5 171411983 171411983 single base substitution T C intron_variant LIRI-JP 5 171414285 171414285 single base substitution G A intron_variant LIRI-JP 5 171414859 171414859 single base substitution T C intron_variant LIRI-JP 5 171415482 171415482 single base substitution T A intron_variant LIRI-JP 5 171418618 171418618 single base substitution C G intron_variant LIRI-JP 5 171418762 171418762 single base substitution A T intron_variant LIRI-JP 5 171422968 171422968 single base substitution T C intron_variant LIRI-JP 5 171423559 171423559 single base substitution T A intron_variant LIRI-JP 5 171425881 171425881 single base substitution T A intron_variant LIRI-JP 5 171425881 171425881 single base substitution T A upstream_gene_variant LIRI-JP 5 171426918 171426918 single base substitution A C intron_variant LIRI-JP 5 171426918 171426918 single base substitution A C upstream_gene_variant LIRI-JP 5 171427210 171427210 single base substitution T C intron_variant LIRI-JP 5 171427210 171427210 single base substitution T C upstream_gene_variant LIRI-JP 5 171428595 171428595 single base substitution T G intron_variant LIRI-JP 5 171428595 171428595 single base substitution T G upstream_gene_variant LIRI-JP 5 171432755 171432755 single base substitution A G intron_variant LIRI-JP 5 171432766 171432766 single base substitution T C intron_variant LIRI-JP 5 171437434 171437434 single base substitution G A upstream_gene_variant LUSC-KR 5 171294212 171294212 single base substitution C A downstream_gene_variant LUSC-KR 5 171294212 171294212 single base substitution C A intron_variant LUSC-KR 5 171295551 171295551 single base substitution A T intron_variant LUSC-KR 5 171295787 171295787 single base substitution C A 3_prime_UTR_variant LUSC-KR 5 171295787 171295787 single base substitution C A exon_variant LUSC-KR 5 171295787 171295787 single base substitution C A missense_variant R460L 1379G>T LUSC-KR 5 171295787 171295787 single base substitution C A missense_variant R462L 1385G>T LUSC-KR 5 171295787 171295787 single base substitution C A missense_variant R481L 1442G>T LUSC-KR 5 171295787 171295787 single base substitution C A missense_variant R494L 1481G>T LUSC-KR 5 171295787 171295787 single base substitution C A upstream_gene_variant LUSC-KR 5 171304411 171304411 single base substitution C A intron_variant LUSC-KR 5 171304411 171304411 single base substitution C A upstream_gene_variant LUSC-KR 5 171307952 171307952 single base substitution G A intron_variant LUSC-KR 5 171307952 171307952 single base substitution G A upstream_gene_variant LUSC-KR 5 171311969 171311969 single base substitution G A intron_variant LUSC-KR 5 171321201 171321201 single base substitution C A intron_variant LUSC-KR 5 171326223 171326223 single base substitution A G downstream_gene_variant LUSC-KR 5 171326223 171326223 single base substitution A G intron_variant LUSC-KR 5 171330133 171330133 single base substitution C A intron_variant LUSC-KR 5 171340543 171340543 single base substitution C T intron_variant LUSC-KR 5 171340543 171340543 single base substitution C T upstream_gene_variant LUSC-KR 5 171340842 171340842 single base substitution C T intron_variant LUSC-KR 5 171340842 171340842 single base substitution C T upstream_gene_variant LUSC-KR 5 171348372 171348372 single base substitution C T intron_variant LUSC-KR 5 171357789 171357789 single base substitution G T intron_variant LUSC-KR 5 171363292 171363292 single base substitution T A intron_variant LUSC-KR 5 171367654 171367654 single base substitution G T intron_variant LUSC-KR 5 171369682 171369682 single base substitution C A intron_variant LUSC-KR 5 171375410 171375410 single base substitution C A intron_variant LUSC-KR 5 171379706 171379706 single base substitution G A intron_variant LUSC-KR 5 171381290 171381290 single base substitution G A intron_variant LUSC-KR 5 171386644 171386644 single base substitution G C intron_variant LUSC-KR 5 171387857 171387857 single base substitution C A intron_variant LUSC-KR 5 171390137 171390137 single base substitution T C intron_variant LUSC-KR 5 171390545 171390545 single base substitution G A intron_variant LUSC-KR 5 171390554 171390554 single base substitution C A intron_variant LUSC-KR 5 171392362 171392362 single base substitution C G intron_variant LUSC-KR 5 171393055 171393055 single base substitution T G intron_variant LUSC-KR 5 171396132 171396132 single base substitution C T intron_variant LUSC-KR 5 171404303 171404303 single base substitution G C intron_variant LUSC-KR 5 171404657 171404657 single base substitution G A intron_variant LUSC-KR 5 171404657 171404657 single base substitution G A missense_variant P6S 16C>T LUSC-KR 5 171414272 171414272 single base substitution C A intron_variant LUSC-KR 5 171415947 171415947 single base substitution G A intron_variant LUSC-KR 5 171420487 171420487 single base substitution C A intron_variant LUSC-KR 5 171420847 171420847 single base substitution T C intron_variant LUSC-KR 5 171426693 171426693 single base substitution G A intron_variant LUSC-KR 5 171426693 171426693 single base substitution G A upstream_gene_variant LUSC-KR 5 171434633 171434633 single base substitution G T upstream_gene_variant LUSC-US 5 171297857 171297857 single base substitution C G 3_prime_UTR_variant LUSC-US 5 171297857 171297857 single base substitution C G exon_variant LUSC-US 5 171297857 171297857 single base substitution C G missense_variant W394S 1181G>C LUSC-US 5 171297857 171297857 single base substitution C G missense_variant W396S 1187G>C LUSC-US 5 171297857 171297857 single base substitution C G missense_variant W415S 1244G>C LUSC-US 5 171297857 171297857 single base substitution C G missense_variant W428S 1283G>C LUSC-US 5 171297857 171297857 single base substitution C G upstream_gene_variant LUSC-US 5 171305017 171305017 single base substitution C A splice_region_variant LUSC-US 5 171305017 171305017 single base substitution C A upstream_gene_variant MALY-DE 5 171287435 171287435 single base substitution T C downstream_gene_variant MALY-DE 5 171291567 171291567 single base substitution G C downstream_gene_variant MALY-DE 5 171291567 171291567 single base substitution G C intron_variant MALY-DE 5 171325768 171325768 single base substitution G A downstream_gene_variant MALY-DE 5 171325768 171325768 single base substitution G A intron_variant MALY-DE 5 171327431 171327431 single base substitution C T intron_variant MALY-DE 5 171332914 171332916 deletion of <=200bp GAC - downstream_gene_variant MALY-DE 5 171332914 171332916 deletion of <=200bp GAC - intron_variant MALY-DE 5 171333543 171333549 deletion of <=200bp ACCTCTG - downstream_gene_variant MALY-DE 5 171333543 171333549 deletion of <=200bp ACCTCTG - intron_variant MALY-DE 5 171336690 171336691 deletion of <=200bp TG - downstream_gene_variant MALY-DE 5 171336690 171336691 deletion of <=200bp TG - intron_variant MALY-DE 5 171336690 171336691 deletion of <=200bp TG - upstream_gene_variant MALY-DE 5 171339362 171339362 single base substitution A C intron_variant MALY-DE 5 171339362 171339362 single base substitution A C upstream_gene_variant MALY-DE 5 171343244 171343244 single base substitution T C intron_variant MALY-DE 5 171343302 171343302 single base substitution T C intron_variant MALY-DE 5 171346928 171346928 single base substitution A C intron_variant MALY-DE 5 171351007 171351007 single base substitution G A intron_variant MALY-DE 5 171352439 171352439 single base substitution A C intron_variant MALY-DE 5 171356781 171356781 single base substitution G A intron_variant MALY-DE 5 171357971 171357971 single base substitution A C intron_variant MALY-DE 5 171364290 171364290 single base substitution C T intron_variant MALY-DE 5 171369402 171369402 single base substitution G A intron_variant MALY-DE 5 171370299 171370299 single base substitution G A intron_variant MALY-DE 5 171372362 171372362 single base substitution A G intron_variant MALY-DE 5 171401007 171401007 single base substitution C A intron_variant MALY-DE 5 171402929 171402929 single base substitution A T intron_variant MALY-DE 5 171407906 171407906 single base substitution C G intron_variant MALY-DE 5 171407906 171407906 single base substitution C G upstream_gene_variant MALY-DE 5 171411270 171411270 single base substitution T C intron_variant MALY-DE 5 171426800 171426800 single base substitution C A intron_variant MALY-DE 5 171426800 171426800 single base substitution C A upstream_gene_variant MALY-DE 5 171430493 171430493 single base substitution A C intron_variant MALY-DE 5 171431133 171431133 single base substitution G C intron_variant MALY-DE 5 171434117 171434117 single base substitution A G upstream_gene_variant MELA-AU 5 171283648 171283648 single base substitution G A downstream_gene_variant MELA-AU 5 171283657 171283657 single base substitution G A downstream_gene_variant MELA-AU 5 171284010 171284010 single base substitution C A downstream_gene_variant MELA-AU 5 171284015 171284015 single base substitution G A downstream_gene_variant MELA-AU 5 171284067 171284067 single base substitution G A downstream_gene_variant MELA-AU 5 171285475 171285475 single base substitution G A downstream_gene_variant MELA-AU 5 171286128 171286128 single base substitution G A downstream_gene_variant MELA-AU 5 171286293 171286293 single base substitution T G downstream_gene_variant MELA-AU 5 171286989 171286990 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 171287369 171287369 single base substitution G A downstream_gene_variant MELA-AU 5 171288215 171288215 single base substitution G A downstream_gene_variant MELA-AU 5 171290014 171290014 single base substitution C T 3_prime_UTR_variant MELA-AU 5 171290014 171290014 single base substitution C T downstream_gene_variant MELA-AU 5 171290555 171290555 single base substitution C T 3_prime_UTR_variant MELA-AU 5 171290555 171290555 single base substitution C T downstream_gene_variant MELA-AU 5 171290920 171290920 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171290920 171290920 single base substitution G A downstream_gene_variant MELA-AU 5 171291132 171291132 single base substitution G A downstream_gene_variant MELA-AU 5 171291132 171291132 single base substitution G A intron_variant MELA-AU 5 171291576 171291576 single base substitution G A downstream_gene_variant MELA-AU 5 171291576 171291576 single base substitution G A intron_variant MELA-AU 5 171292449 171292449 single base substitution G A downstream_gene_variant MELA-AU 5 171292449 171292449 single base substitution G A intron_variant MELA-AU 5 171293201 171293201 single base substitution G A downstream_gene_variant MELA-AU 5 171293201 171293201 single base substitution G A intron_variant MELA-AU 5 171293272 171293272 single base substitution G A downstream_gene_variant MELA-AU 5 171293272 171293272 single base substitution G A intron_variant MELA-AU 5 171293491 171293491 single base substitution G A downstream_gene_variant MELA-AU 5 171293491 171293491 single base substitution G A intron_variant MELA-AU 5 171293777 171293777 single base substitution G A downstream_gene_variant MELA-AU 5 171293777 171293777 single base substitution G A intron_variant MELA-AU 5 171294195 171294195 single base substitution A G downstream_gene_variant MELA-AU 5 171294195 171294195 single base substitution A G intron_variant MELA-AU 5 171294767 171294767 single base substitution T A downstream_gene_variant MELA-AU 5 171294767 171294767 single base substitution T A intron_variant MELA-AU 5 171295535 171295535 single base substitution G A intron_variant MELA-AU 5 171295563 171295563 single base substitution G A intron_variant MELA-AU 5 171296757 171296757 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171296757 171296757 single base substitution G A exon_variant MELA-AU 5 171296757 171296757 single base substitution G A synonymous_variant S447S 1341C>T MELA-AU 5 171296757 171296757 single base substitution G A synonymous_variant S449S 1347C>T MELA-AU 5 171296757 171296757 single base substitution G A synonymous_variant S468S 1404C>T MELA-AU 5 171296757 171296757 single base substitution G A synonymous_variant S481S 1443C>T MELA-AU 5 171296757 171296757 single base substitution G A upstream_gene_variant MELA-AU 5 171296771 171296771 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171296771 171296771 single base substitution G A exon_variant MELA-AU 5 171296771 171296771 single base substitution G A stop_gained R443* 1327C>T MELA-AU 5 171296771 171296771 single base substitution G A stop_gained R445* 1333C>T MELA-AU 5 171296771 171296771 single base substitution G A stop_gained R464* 1390C>T MELA-AU 5 171296771 171296771 single base substitution G A stop_gained R477* 1429C>T MELA-AU 5 171296771 171296771 single base substitution G A upstream_gene_variant MELA-AU 5 171297235 171297235 single base substitution G A intron_variant MELA-AU 5 171297235 171297235 single base substitution G A upstream_gene_variant MELA-AU 5 171297356 171297356 single base substitution G A intron_variant MELA-AU 5 171297356 171297356 single base substitution G A upstream_gene_variant MELA-AU 5 171297800 171297800 single base substitution C A 3_prime_UTR_variant MELA-AU 5 171297800 171297800 single base substitution C A exon_variant MELA-AU 5 171297800 171297800 single base substitution C A missense_variant R413L 1238G>T MELA-AU 5 171297800 171297800 single base substitution C A missense_variant R415L 1244G>T MELA-AU 5 171297800 171297800 single base substitution C A missense_variant R434L 1301G>T MELA-AU 5 171297800 171297800 single base substitution C A missense_variant R447L 1340G>T MELA-AU 5 171297800 171297800 single base substitution C A upstream_gene_variant MELA-AU 5 171298265 171298265 single base substitution G A intron_variant MELA-AU 5 171298265 171298265 single base substitution G A upstream_gene_variant MELA-AU 5 171298795 171298795 single base substitution C T downstream_gene_variant MELA-AU 5 171298795 171298795 single base substitution C T intron_variant MELA-AU 5 171298795 171298795 single base substitution C T upstream_gene_variant MELA-AU 5 171299043 171299043 single base substitution C T downstream_gene_variant MELA-AU 5 171299043 171299043 single base substitution C T intron_variant MELA-AU 5 171299043 171299043 single base substitution C T upstream_gene_variant MELA-AU 5 171299486 171299486 single base substitution G A downstream_gene_variant MELA-AU 5 171299486 171299486 single base substitution G A intron_variant MELA-AU 5 171299486 171299486 single base substitution G A upstream_gene_variant MELA-AU 5 171300812 171300812 single base substitution T A downstream_gene_variant MELA-AU 5 171300812 171300812 single base substitution T A intron_variant MELA-AU 5 171301939 171301939 single base substitution G A downstream_gene_variant MELA-AU 5 171301939 171301939 single base substitution G A intron_variant MELA-AU 5 171303265 171303265 single base substitution G A downstream_gene_variant MELA-AU 5 171303265 171303265 single base substitution G A intron_variant MELA-AU 5 171303295 171303295 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171303295 171303295 single base substitution G A downstream_gene_variant MELA-AU 5 171303295 171303295 single base substitution G A exon_variant MELA-AU 5 171303295 171303295 single base substitution G A synonymous_variant T350T 1050C>T MELA-AU 5 171303295 171303295 single base substitution G A synonymous_variant T352T 1056C>T MELA-AU 5 171303295 171303295 single base substitution G A synonymous_variant T371T 1113C>T MELA-AU 5 171303295 171303295 single base substitution G A synonymous_variant T384T 1152C>T MELA-AU 5 171304625 171304625 single base substitution C T intron_variant MELA-AU 5 171304625 171304625 single base substitution C T upstream_gene_variant MELA-AU 5 171305167 171305167 deletion of <=200bp A - intron_variant MELA-AU 5 171305167 171305167 deletion of <=200bp A - upstream_gene_variant MELA-AU 5 171306596 171306596 single base substitution C T intron_variant MELA-AU 5 171306596 171306596 single base substitution C T upstream_gene_variant MELA-AU 5 171306840 171306840 single base substitution G A intron_variant MELA-AU 5 171306840 171306840 single base substitution G A upstream_gene_variant MELA-AU 5 171307632 171307632 single base substitution C T intron_variant MELA-AU 5 171307632 171307632 single base substitution C T upstream_gene_variant MELA-AU 5 171308274 171308274 single base substitution G A intron_variant MELA-AU 5 171308274 171308274 single base substitution G A upstream_gene_variant MELA-AU 5 171308591 171308591 single base substitution G A intron_variant MELA-AU 5 171308946 171308946 single base substitution G A intron_variant MELA-AU 5 171309696 171309696 single base substitution G A intron_variant MELA-AU 5 171311098 171311098 single base substitution G T intron_variant MELA-AU 5 171311935 171311935 single base substitution G A intron_variant MELA-AU 5 171313223 171313223 single base substitution A G intron_variant MELA-AU 5 171313580 171313580 insertion of <=200bp - AAAT intron_variant MELA-AU 5 171314563 171314563 single base substitution G A intron_variant MELA-AU 5 171314824 171314824 single base substitution G A intron_variant MELA-AU 5 171315698 171315698 single base substitution A G intron_variant MELA-AU 5 171316509 171316509 single base substitution G A intron_variant MELA-AU 5 171316957 171316957 single base substitution A G intron_variant MELA-AU 5 171317286 171317286 single base substitution G C intron_variant MELA-AU 5 171317780 171317780 single base substitution G A intron_variant MELA-AU 5 171317999 171317999 deletion of <=200bp A - intron_variant MELA-AU 5 171318588 171318588 single base substitution C T 3_prime_UTR_variant MELA-AU 5 171318588 171318588 single base substitution C T exon_variant MELA-AU 5 171318588 171318588 single base substitution C T synonymous_variant R190R 570G>A MELA-AU 5 171318588 171318588 single base substitution C T synonymous_variant R192R 576G>A MELA-AU 5 171318588 171318588 single base substitution C T synonymous_variant R211R 633G>A MELA-AU 5 171318588 171318588 single base substitution C T synonymous_variant R224R 672G>A MELA-AU 5 171318613 171318613 single base substitution G A splice_region_variant MELA-AU 5 171319420 171319420 single base substitution G A intron_variant MELA-AU 5 171319637 171319637 single base substitution A G intron_variant MELA-AU 5 171320119 171320119 single base substitution G A intron_variant MELA-AU 5 171320458 171320458 single base substitution C T intron_variant MELA-AU 5 171320663 171320663 single base substitution A G intron_variant MELA-AU 5 171322063 171322063 single base substitution G A downstream_gene_variant MELA-AU 5 171322063 171322063 single base substitution G A intron_variant MELA-AU 5 171322384 171322384 single base substitution G T downstream_gene_variant MELA-AU 5 171322384 171322384 single base substitution G T intron_variant MELA-AU 5 171323951 171323951 single base substitution C T downstream_gene_variant MELA-AU 5 171323951 171323951 single base substitution C T intron_variant MELA-AU 5 171324174 171324174 single base substitution G A downstream_gene_variant MELA-AU 5 171324174 171324174 single base substitution G A intron_variant MELA-AU 5 171324388 171324388 single base substitution A G downstream_gene_variant MELA-AU 5 171324388 171324388 single base substitution A G intron_variant MELA-AU 5 171324412 171324412 single base substitution A G downstream_gene_variant MELA-AU 5 171324412 171324412 single base substitution A G intron_variant MELA-AU 5 171325705 171325705 single base substitution G A downstream_gene_variant MELA-AU 5 171325705 171325705 single base substitution G A intron_variant MELA-AU 5 171326951 171326951 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171326951 171326951 single base substitution G A exon_variant MELA-AU 5 171326951 171326951 single base substitution G A missense_variant P142L 425C>T MELA-AU 5 171326951 171326951 single base substitution G A missense_variant P144L 431C>T MELA-AU 5 171326951 171326951 single base substitution G A missense_variant P163L 488C>T MELA-AU 5 171326951 171326951 single base substitution G A missense_variant P176L 527C>T MELA-AU 5 171326951 171326951 single base substitution G A synonymous_variant ?197 MELA-AU 5 171327049 171327049 single base substitution A G 3_prime_UTR_variant MELA-AU 5 171327049 171327049 single base substitution A G exon_variant MELA-AU 5 171327049 171327049 single base substitution A G synonymous_variant S109S 327T>C MELA-AU 5 171327049 171327049 single base substitution A G synonymous_variant S111S 333T>C MELA-AU 5 171327049 171327049 single base substitution A G synonymous_variant S130S 390T>C MELA-AU 5 171327049 171327049 single base substitution A G synonymous_variant S143S 429T>C MELA-AU 5 171327049 171327049 single base substitution A G synonymous_variant S164S 492T>C MELA-AU 5 171328310 171328310 single base substitution T C intron_variant MELA-AU 5 171329241 171329241 single base substitution G A intron_variant MELA-AU 5 171329397 171329397 single base substitution G A intron_variant MELA-AU 5 171330135 171330135 single base substitution C T intron_variant MELA-AU 5 171330825 171330825 single base substitution A T intron_variant MELA-AU 5 171330840 171330840 single base substitution A G intron_variant MELA-AU 5 171330844 171330844 single base substitution A G intron_variant MELA-AU 5 171330851 171330851 single base substitution C T intron_variant MELA-AU 5 171331288 171331288 single base substitution G A intron_variant MELA-AU 5 171331679 171331679 single base substitution G A intron_variant MELA-AU 5 171331827 171331827 single base substitution G A intron_variant MELA-AU 5 171333269 171333269 single base substitution A T downstream_gene_variant MELA-AU 5 171333269 171333269 single base substitution A T intron_variant MELA-AU 5 171333496 171333496 single base substitution G A downstream_gene_variant MELA-AU 5 171333496 171333496 single base substitution G A intron_variant MELA-AU 5 171333526 171333526 single base substitution T C downstream_gene_variant MELA-AU 5 171333526 171333526 single base substitution T C intron_variant MELA-AU 5 171333697 171333697 single base substitution G A downstream_gene_variant MELA-AU 5 171333697 171333697 single base substitution G A intron_variant MELA-AU 5 171333950 171333950 single base substitution G A downstream_gene_variant MELA-AU 5 171333950 171333950 single base substitution G A intron_variant MELA-AU 5 171335029 171335029 single base substitution A T downstream_gene_variant MELA-AU 5 171335029 171335029 single base substitution A T intron_variant MELA-AU 5 171335318 171335318 single base substitution G A downstream_gene_variant MELA-AU 5 171335318 171335318 single base substitution G A intron_variant MELA-AU 5 171336553 171336553 single base substitution G A downstream_gene_variant MELA-AU 5 171336553 171336553 single base substitution G A intron_variant MELA-AU 5 171336553 171336553 single base substitution G A upstream_gene_variant MELA-AU 5 171336931 171336932 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 171336931 171336932 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171336931 171336932 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 171337133 171337133 single base substitution G A downstream_gene_variant MELA-AU 5 171337133 171337133 single base substitution G A intron_variant MELA-AU 5 171337133 171337133 single base substitution G A upstream_gene_variant MELA-AU 5 171338435 171338435 single base substitution G A intron_variant MELA-AU 5 171338435 171338435 single base substitution G A upstream_gene_variant MELA-AU 5 171339156 171339156 single base substitution G A intron_variant MELA-AU 5 171339156 171339156 single base substitution G A upstream_gene_variant MELA-AU 5 171339338 171339338 single base substitution G A intron_variant MELA-AU 5 171339338 171339338 single base substitution G A upstream_gene_variant MELA-AU 5 171339687 171339687 single base substitution G A intron_variant MELA-AU 5 171339687 171339687 single base substitution G A upstream_gene_variant MELA-AU 5 171339890 171339891 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171339890 171339891 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 171340735 171340735 single base substitution A G intron_variant MELA-AU 5 171340735 171340735 single base substitution A G upstream_gene_variant MELA-AU 5 171341564 171341564 single base substitution G A intron_variant MELA-AU 5 171341637 171341637 single base substitution A G intron_variant MELA-AU 5 171342975 171342975 single base substitution C T intron_variant MELA-AU 5 171343092 171343092 single base substitution C T intron_variant MELA-AU 5 171343245 171343245 single base substitution A T intron_variant MELA-AU 5 171343889 171343889 single base substitution G A intron_variant MELA-AU 5 171344067 171344067 single base substitution G A intron_variant MELA-AU 5 171345086 171345086 single base substitution G A intron_variant MELA-AU 5 171345348 171345348 single base substitution A T intron_variant MELA-AU 5 171345600 171345600 single base substitution C T intron_variant MELA-AU 5 171346855 171346855 single base substitution C T intron_variant MELA-AU 5 171346984 171346984 single base substitution A G intron_variant MELA-AU 5 171349065 171349065 single base substitution G A intron_variant MELA-AU 5 171349080 171349080 single base substitution G A intron_variant MELA-AU 5 171349508 171349508 single base substitution C T intron_variant MELA-AU 5 171349865 171349865 single base substitution G A intron_variant MELA-AU 5 171350797 171350797 single base substitution A G intron_variant MELA-AU 5 171350900 171350901 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171350903 171350903 single base substitution G A intron_variant MELA-AU 5 171351131 171351131 single base substitution T C intron_variant MELA-AU 5 171351804 171351804 single base substitution G A intron_variant MELA-AU 5 171352709 171352709 single base substitution T A intron_variant MELA-AU 5 171352763 171352763 single base substitution C T intron_variant MELA-AU 5 171353221 171353221 single base substitution G A intron_variant MELA-AU 5 171353606 171353606 single base substitution G A intron_variant MELA-AU 5 171353933 171353933 single base substitution A T intron_variant MELA-AU 5 171354032 171354032 single base substitution A G intron_variant MELA-AU 5 171354428 171354428 single base substitution G A intron_variant MELA-AU 5 171355152 171355152 single base substitution G A intron_variant MELA-AU 5 171355333 171355333 single base substitution T A intron_variant MELA-AU 5 171355816 171355816 single base substitution C T intron_variant MELA-AU 5 171356004 171356004 single base substitution G A intron_variant MELA-AU 5 171356843 171356843 single base substitution G A intron_variant MELA-AU 5 171357726 171357726 single base substitution A T intron_variant MELA-AU 5 171357997 171357997 single base substitution G A intron_variant MELA-AU 5 171358160 171358160 single base substitution G A intron_variant MELA-AU 5 171359099 171359099 single base substitution G A intron_variant MELA-AU 5 171359149 171359149 single base substitution G A intron_variant MELA-AU 5 171359721 171359721 single base substitution G A intron_variant MELA-AU 5 171360010 171360010 single base substitution C T intron_variant MELA-AU 5 171361386 171361386 single base substitution A C intron_variant MELA-AU 5 171361547 171361547 single base substitution G A intron_variant MELA-AU 5 171361986 171361986 single base substitution G A intron_variant MELA-AU 5 171363885 171363885 single base substitution G A intron_variant MELA-AU 5 171364676 171364676 single base substitution A G intron_variant MELA-AU 5 171364879 171364879 single base substitution A T intron_variant MELA-AU 5 171366037 171366037 single base substitution A G intron_variant MELA-AU 5 171366719 171366719 single base substitution A G intron_variant MELA-AU 5 171368130 171368130 single base substitution A C intron_variant MELA-AU 5 171368182 171368182 single base substitution G A intron_variant MELA-AU 5 171369795 171369796 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171370288 171370288 single base substitution G A intron_variant MELA-AU 5 171371356 171371356 single base substitution G A intron_variant MELA-AU 5 171371686 171371686 single base substitution G T intron_variant MELA-AU 5 171372491 171372491 single base substitution T C intron_variant MELA-AU 5 171373005 171373005 single base substitution G A intron_variant MELA-AU 5 171373160 171373160 single base substitution G A intron_variant MELA-AU 5 171376085 171376085 single base substitution G A intron_variant MELA-AU 5 171376085 171376086 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171376814 171376814 single base substitution C A intron_variant MELA-AU 5 171377057 171377058 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171377173 171377173 single base substitution G A intron_variant MELA-AU 5 171377409 171377409 single base substitution G A intron_variant MELA-AU 5 171378580 171378580 single base substitution G A intron_variant MELA-AU 5 171378691 171378691 single base substitution C T intron_variant MELA-AU 5 171379071 171379071 single base substitution C T intron_variant MELA-AU 5 171380724 171380724 single base substitution G A intron_variant MELA-AU 5 171381027 171381027 single base substitution G A intron_variant MELA-AU 5 171381928 171381928 single base substitution G A intron_variant MELA-AU 5 171382425 171382425 single base substitution G A intron_variant MELA-AU 5 171382509 171382509 single base substitution G A intron_variant MELA-AU 5 171382881 171382881 single base substitution G A intron_variant MELA-AU 5 171384606 171384606 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171384606 171384606 single base substitution G A intron_variant MELA-AU 5 171384606 171384606 single base substitution G A missense_variant L48F 142C>T MELA-AU 5 171384792 171384792 single base substitution G A intron_variant MELA-AU 5 171385450 171385450 single base substitution G A intron_variant MELA-AU 5 171385707 171385707 single base substitution A G intron_variant MELA-AU 5 171386492 171386492 single base substitution G A intron_variant MELA-AU 5 171387063 171387063 single base substitution G A intron_variant MELA-AU 5 171387378 171387378 single base substitution C T intron_variant MELA-AU 5 171387521 171387521 single base substitution G A intron_variant MELA-AU 5 171387784 171387784 single base substitution A T intron_variant MELA-AU 5 171388301 171388301 single base substitution A G intron_variant MELA-AU 5 171388674 171388675 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171389675 171389675 single base substitution G A intron_variant MELA-AU 5 171391094 171391094 single base substitution G A intron_variant MELA-AU 5 171392621 171392621 single base substitution G A intron_variant MELA-AU 5 171392711 171392711 single base substitution A T intron_variant MELA-AU 5 171392782 171392782 single base substitution A T intron_variant MELA-AU 5 171393212 171393212 single base substitution G A intron_variant MELA-AU 5 171393345 171393345 single base substitution G A intron_variant MELA-AU 5 171394885 171394885 single base substitution T C intron_variant MELA-AU 5 171394925 171394925 single base substitution T C intron_variant MELA-AU 5 171395376 171395376 single base substitution G A intron_variant MELA-AU 5 171395991 171395991 single base substitution G A intron_variant MELA-AU 5 171396021 171396021 single base substitution C T intron_variant MELA-AU 5 171396368 171396368 single base substitution C T intron_variant MELA-AU 5 171396892 171396892 single base substitution A G intron_variant MELA-AU 5 171397595 171397595 single base substitution G A intron_variant MELA-AU 5 171397735 171397735 single base substitution C T intron_variant MELA-AU 5 171397747 171397747 single base substitution G A intron_variant MELA-AU 5 171397795 171397795 single base substitution T A intron_variant MELA-AU 5 171398319 171398319 single base substitution G A intron_variant MELA-AU 5 171398642 171398642 single base substitution A C intron_variant MELA-AU 5 171398675 171398675 single base substitution G A intron_variant MELA-AU 5 171398703 171398703 single base substitution G A intron_variant MELA-AU 5 171398987 171398987 single base substitution G A intron_variant MELA-AU 5 171399316 171399316 single base substitution T C intron_variant MELA-AU 5 171400818 171400818 single base substitution G A intron_variant MELA-AU 5 171401057 171401057 single base substitution C T intron_variant MELA-AU 5 171401144 171401144 single base substitution T A intron_variant MELA-AU 5 171401380 171401380 single base substitution G A intron_variant MELA-AU 5 171401426 171401426 single base substitution G A intron_variant MELA-AU 5 171402883 171402883 single base substitution A G intron_variant MELA-AU 5 171404236 171404236 single base substitution C T intron_variant MELA-AU 5 171404465 171404465 single base substitution G A intron_variant MELA-AU 5 171404467 171404467 single base substitution A G intron_variant MELA-AU 5 171404747 171404747 single base substitution G A 5_prime_UTR_variant MELA-AU 5 171404747 171404747 single base substitution G A intron_variant MELA-AU 5 171405016 171405016 single base substitution G A intron_variant MELA-AU 5 171405016 171405016 single base substitution G A upstream_gene_variant MELA-AU 5 171405169 171405169 single base substitution G A intron_variant MELA-AU 5 171405169 171405169 single base substitution G A upstream_gene_variant MELA-AU 5 171405306 171405306 single base substitution G A intron_variant MELA-AU 5 171405306 171405306 single base substitution G A upstream_gene_variant MELA-AU 5 171405695 171405695 single base substitution G A intron_variant MELA-AU 5 171405695 171405695 single base substitution G A upstream_gene_variant MELA-AU 5 171406034 171406034 single base substitution G A intron_variant MELA-AU 5 171406034 171406034 single base substitution G A upstream_gene_variant MELA-AU 5 171406390 171406390 single base substitution G A intron_variant MELA-AU 5 171406390 171406390 single base substitution G A upstream_gene_variant MELA-AU 5 171406427 171406427 single base substitution G A intron_variant MELA-AU 5 171406427 171406427 single base substitution G A upstream_gene_variant MELA-AU 5 171406528 171406528 single base substitution T C intron_variant MELA-AU 5 171406528 171406528 single base substitution T C upstream_gene_variant MELA-AU 5 171406638 171406638 single base substitution G A intron_variant MELA-AU 5 171406638 171406638 single base substitution G A upstream_gene_variant MELA-AU 5 171407004 171407004 single base substitution A G intron_variant MELA-AU 5 171407004 171407004 single base substitution A G upstream_gene_variant MELA-AU 5 171408790 171408790 single base substitution A C intron_variant MELA-AU 5 171408790 171408790 single base substitution A C upstream_gene_variant MELA-AU 5 171409225 171409225 single base substitution G C intron_variant MELA-AU 5 171409225 171409225 single base substitution G C upstream_gene_variant MELA-AU 5 171409468 171409468 single base substitution G A intron_variant MELA-AU 5 171409468 171409468 single base substitution G A upstream_gene_variant MELA-AU 5 171409783 171409783 single base substitution G A intron_variant MELA-AU 5 171409896 171409896 single base substitution G A intron_variant MELA-AU 5 171410175 171410175 single base substitution G A intron_variant MELA-AU 5 171410285 171410285 single base substitution G A intron_variant MELA-AU 5 171410497 171410498 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171411870 171411870 single base substitution T G intron_variant MELA-AU 5 171412697 171412697 single base substitution G A intron_variant MELA-AU 5 171412858 171412859 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171413147 171413147 single base substitution C T intron_variant MELA-AU 5 171413204 171413204 single base substitution G A intron_variant MELA-AU 5 171414076 171414076 single base substitution G A intron_variant MELA-AU 5 171414207 171414207 single base substitution G A intron_variant MELA-AU 5 171414643 171414643 single base substitution G A intron_variant MELA-AU 5 171414785 171414785 single base substitution G A intron_variant MELA-AU 5 171415079 171415079 single base substitution G A intron_variant MELA-AU 5 171415118 171415118 single base substitution G A intron_variant MELA-AU 5 171415335 171415335 single base substitution G A intron_variant MELA-AU 5 171416107 171416108 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171416126 171416126 single base substitution A T intron_variant MELA-AU 5 171416264 171416264 single base substitution G A intron_variant MELA-AU 5 171416266 171416266 single base substitution A T intron_variant MELA-AU 5 171416326 171416326 single base substitution C A intron_variant MELA-AU 5 171416668 171416668 single base substitution G A intron_variant MELA-AU 5 171417199 171417199 single base substitution G A intron_variant MELA-AU 5 171417839 171417839 single base substitution C T intron_variant MELA-AU 5 171418022 171418022 single base substitution G A intron_variant MELA-AU 5 171418257 171418257 single base substitution G A intron_variant MELA-AU 5 171418500 171418500 single base substitution G C intron_variant MELA-AU 5 171418642 171418642 single base substitution C T intron_variant MELA-AU 5 171418754 171418754 single base substitution C T intron_variant MELA-AU 5 171418894 171418894 single base substitution G A intron_variant MELA-AU 5 171419012 171419013 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171419119 171419119 single base substitution A G intron_variant MELA-AU 5 171419194 171419194 single base substitution G A intron_variant MELA-AU 5 171419937 171419937 single base substitution G A intron_variant MELA-AU 5 171420318 171420318 single base substitution C T intron_variant MELA-AU 5 171420414 171420414 single base substitution G A intron_variant MELA-AU 5 171422008 171422008 single base substitution G A intron_variant MELA-AU 5 171422104 171422104 single base substitution G A intron_variant MELA-AU 5 171422537 171422537 single base substitution C T intron_variant MELA-AU 5 171423707 171423707 single base substitution G A intron_variant MELA-AU 5 171424804 171424804 single base substitution G A intron_variant MELA-AU 5 171424804 171424804 single base substitution G A upstream_gene_variant MELA-AU 5 171425496 171425496 single base substitution A T intron_variant MELA-AU 5 171425496 171425496 single base substitution A T upstream_gene_variant MELA-AU 5 171425811 171425811 single base substitution A T intron_variant MELA-AU 5 171425811 171425811 single base substitution A T upstream_gene_variant MELA-AU 5 171426404 171426404 single base substitution A T intron_variant MELA-AU 5 171426404 171426404 single base substitution A T upstream_gene_variant MELA-AU 5 171428791 171428791 single base substitution G A intron_variant MELA-AU 5 171428791 171428791 single base substitution G A upstream_gene_variant MELA-AU 5 171428918 171428918 single base substitution G A intron_variant MELA-AU 5 171428918 171428918 single base substitution G A upstream_gene_variant MELA-AU 5 171429624 171429624 single base substitution A T intron_variant MELA-AU 5 171429660 171429660 single base substitution T G intron_variant MELA-AU 5 171429782 171429782 single base substitution A G intron_variant MELA-AU 5 171430188 171430188 single base substitution C T exon_variant MELA-AU 5 171430188 171430188 single base substitution C T intron_variant MELA-AU 5 171430220 171430220 single base substitution G A exon_variant MELA-AU 5 171430220 171430220 single base substitution G A intron_variant MELA-AU 5 171430447 171430447 single base substitution A G intron_variant MELA-AU 5 171430472 171430472 single base substitution G A intron_variant MELA-AU 5 171430474 171430474 single base substitution G A intron_variant MELA-AU 5 171430792 171430792 single base substitution G A intron_variant MELA-AU 5 171431095 171431096 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 171431745 171431745 single base substitution A C intron_variant MELA-AU 5 171433682 171433682 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 171433682 171433682 single base substitution G A upstream_gene_variant MELA-AU 5 171433908 171433908 single base substitution C T upstream_gene_variant MELA-AU 5 171433908 171433909 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 171433909 171433909 single base substitution C T upstream_gene_variant MELA-AU 5 171433912 171433912 single base substitution C T upstream_gene_variant MELA-AU 5 171436965 171436965 single base substitution G A upstream_gene_variant MELA-AU 5 171437109 171437109 single base substitution C T upstream_gene_variant MELA-AU 5 171437571 171437571 single base substitution C T upstream_gene_variant MELA-AU 5 171438088 171438088 single base substitution C T upstream_gene_variant MELA-AU 5 171438259 171438259 single base substitution C T upstream_gene_variant MELA-AU 5 171438666 171438666 single base substitution G A upstream_gene_variant MELA-AU 5 171438876 171438876 single base substitution C T upstream_gene_variant ORCA-IN 5 171327963 171327963 single base substitution A T intron_variant ORCA-IN 5 171344880 171344880 single base substitution A G intron_variant ORCA-IN 5 171351998 171351998 single base substitution G A intron_variant ORCA-IN 5 171392658 171392658 single base substitution A G intron_variant ORCA-IN 5 171401447 171401447 deletion of <=200bp G - intron_variant ORCA-IN 5 171401573 171401573 single base substitution G A intron_variant ORCA-IN 5 171432101 171432101 single base substitution A G intron_variant OV-AU 5 171290661 171290661 single base substitution C A 3_prime_UTR_variant OV-AU 5 171290661 171290661 single base substitution C A downstream_gene_variant OV-AU 5 171292352 171292352 single base substitution A T downstream_gene_variant OV-AU 5 171292352 171292352 single base substitution A T intron_variant OV-AU 5 171303562 171303562 single base substitution A G intron_variant OV-AU 5 171303562 171303562 single base substitution A G upstream_gene_variant OV-AU 5 171307224 171307224 single base substitution T C intron_variant OV-AU 5 171307224 171307224 single base substitution T C upstream_gene_variant OV-AU 5 171314960 171314960 single base substitution G A intron_variant OV-AU 5 171316132 171316132 single base substitution A G intron_variant OV-AU 5 171318659 171318659 single base substitution A G intron_variant OV-AU 5 171332013 171332013 single base substitution G C intron_variant OV-AU 5 171333875 171333875 single base substitution T C downstream_gene_variant OV-AU 5 171333875 171333875 single base substitution T C intron_variant OV-AU 5 171347115 171347115 single base substitution G A intron_variant OV-AU 5 171357093 171357093 single base substitution G A intron_variant OV-AU 5 171360545 171360545 single base substitution C G intron_variant OV-AU 5 171369538 171369538 single base substitution T A intron_variant OV-AU 5 171371473 171371473 single base substitution G T intron_variant OV-AU 5 171374196 171374196 single base substitution A T intron_variant OV-AU 5 171375505 171375505 single base substitution G C intron_variant OV-AU 5 171379326 171379326 single base substitution C G intron_variant OV-AU 5 171381541 171381541 single base substitution C T intron_variant OV-AU 5 171388019 171388019 single base substitution G T intron_variant OV-AU 5 171388624 171388624 single base substitution A C intron_variant OV-AU 5 171392138 171392138 single base substitution C A intron_variant OV-AU 5 171400705 171400705 single base substitution G A intron_variant OV-AU 5 171401142 171401142 single base substitution T C intron_variant OV-AU 5 171404455 171404455 single base substitution G A intron_variant OV-AU 5 171409068 171409068 single base substitution G A intron_variant OV-AU 5 171409068 171409068 single base substitution G A upstream_gene_variant OV-AU 5 171409856 171409856 single base substitution C T intron_variant OV-AU 5 171413085 171413085 single base substitution C A intron_variant OV-AU 5 171426920 171426920 single base substitution A C intron_variant OV-AU 5 171426920 171426920 single base substitution A C upstream_gene_variant OV-AU 5 171427497 171427497 single base substitution T C intron_variant OV-AU 5 171427497 171427497 single base substitution T C upstream_gene_variant OV-AU 5 171429760 171429760 single base substitution G C intron_variant OV-AU 5 171430542 171430542 single base substitution G A intron_variant OV-AU 5 171436661 171436661 single base substitution G A upstream_gene_variant OV-AU 5 171438315 171438315 single base substitution C A upstream_gene_variant OV-AU 5 171438572 171438572 single base substitution G T upstream_gene_variant PACA-AU 5 171286604 171286604 single base substitution C T downstream_gene_variant PACA-AU 5 171289607 171289607 single base substitution C T 3_prime_UTR_variant PACA-AU 5 171289607 171289607 single base substitution C T downstream_gene_variant PACA-AU 5 171291792 171291792 single base substitution C A downstream_gene_variant PACA-AU 5 171291792 171291792 single base substitution C A intron_variant PACA-AU 5 171293205 171293205 single base substitution G A downstream_gene_variant PACA-AU 5 171293205 171293205 single base substitution G A intron_variant PACA-AU 5 171293635 171293635 single base substitution T A downstream_gene_variant PACA-AU 5 171293635 171293635 single base substitution T A intron_variant PACA-AU 5 171295744 171295746 deletion of <=200bp GCT - 3_prime_UTR_variant PACA-AU 5 171295744 171295746 deletion of <=200bp GCT - exon_variant PACA-AU 5 171295744 171295746 deletion of <=200bp GCT - inframe_deletion S474 PACA-AU 5 171295744 171295746 deletion of <=200bp GCT - inframe_deletion S476 PACA-AU 5 171295744 171295746 deletion of <=200bp GCT - inframe_deletion S495 PACA-AU 5 171295744 171295746 deletion of <=200bp GCT - inframe_deletion S508 PACA-AU 5 171295744 171295746 deletion of <=200bp GCT - upstream_gene_variant PACA-AU 5 171297923 171297923 single base substitution A C intron_variant PACA-AU 5 171297923 171297923 single base substitution A C upstream_gene_variant PACA-AU 5 171303378 171303378 single base substitution G A 3_prime_UTR_variant PACA-AU 5 171303378 171303378 single base substitution G A downstream_gene_variant PACA-AU 5 171303378 171303378 single base substitution G A missense_variant R323C 967C>T PACA-AU 5 171303378 171303378 single base substitution G A missense_variant R325C 973C>T PACA-AU 5 171303378 171303378 single base substitution G A missense_variant R344C 1030C>T PACA-AU 5 171303378 171303378 single base substitution G A missense_variant R357C 1069C>T PACA-AU 5 171303378 171303378 single base substitution G A upstream_gene_variant PACA-AU 5 171311076 171311076 single base substitution G A intron_variant PACA-AU 5 171311548 171311548 single base substitution G A intron_variant PACA-AU 5 171313571 171313571 single base substitution T C intron_variant PACA-AU 5 171314509 171314509 single base substitution A G intron_variant PACA-AU 5 171322440 171322440 deletion of <=200bp A - downstream_gene_variant PACA-AU 5 171322440 171322440 deletion of <=200bp A - intron_variant PACA-AU 5 171323210 171323210 single base substitution C T downstream_gene_variant PACA-AU 5 171323210 171323210 single base substitution C T intron_variant PACA-AU 5 171323625 171323625 single base substitution G C downstream_gene_variant PACA-AU 5 171323625 171323625 single base substitution G C intron_variant PACA-AU 5 171324060 171324060 single base substitution G A downstream_gene_variant PACA-AU 5 171324060 171324060 single base substitution G A intron_variant PACA-AU 5 171325409 171325409 single base substitution T A downstream_gene_variant PACA-AU 5 171325409 171325409 single base substitution T A intron_variant PACA-AU 5 171330824 171330824 single base substitution T A intron_variant PACA-AU 5 171332789 171332789 deletion of <=200bp A - downstream_gene_variant PACA-AU 5 171332789 171332789 deletion of <=200bp A - intron_variant PACA-AU 5 171337831 171337831 single base substitution T C intron_variant PACA-AU 5 171337831 171337831 single base substitution T C upstream_gene_variant PACA-AU 5 171339174 171339174 insertion of <=200bp - CA intron_variant PACA-AU 5 171339174 171339174 insertion of <=200bp - CA upstream_gene_variant PACA-AU 5 171339999 171340006 deletion of <=200bp TAAAACAT - intron_variant PACA-AU 5 171339999 171340006 deletion of <=200bp TAAAACAT - upstream_gene_variant PACA-AU 5 171341420 171341420 single base substitution A G intron_variant PACA-AU 5 171355245 171355245 insertion of <=200bp - A intron_variant PACA-AU 5 171356349 171356349 single base substitution G T intron_variant PACA-AU 5 171358957 171358957 single base substitution C T intron_variant PACA-AU 5 171359603 171359603 single base substitution T G intron_variant PACA-AU 5 171362253 171362253 single base substitution G A intron_variant PACA-AU 5 171364343 171364343 single base substitution T G intron_variant PACA-AU 5 171373104 171373104 single base substitution A T intron_variant PACA-AU 5 171379358 171379358 single base substitution T G intron_variant PACA-AU 5 171379602 171379602 single base substitution G A intron_variant PACA-AU 5 171386098 171386098 single base substitution G A intron_variant PACA-AU 5 171391903 171391903 single base substitution T C intron_variant PACA-AU 5 171401208 171401208 single base substitution G T intron_variant PACA-AU 5 171401965 171401965 single base substitution A G intron_variant PACA-AU 5 171405935 171405935 single base substitution G C intron_variant PACA-AU 5 171405935 171405935 single base substitution G C upstream_gene_variant PACA-AU 5 171408236 171408236 single base substitution A G intron_variant PACA-AU 5 171408236 171408236 single base substitution A G upstream_gene_variant PACA-AU 5 171410042 171410042 deletion of <=200bp A - intron_variant PACA-AU 5 171410636 171410636 single base substitution G C intron_variant PACA-AU 5 171413183 171413183 single base substitution A T intron_variant PACA-AU 5 171413504 171413504 single base substitution A C intron_variant PACA-AU 5 171414478 171414478 single base substitution G A intron_variant PACA-AU 5 171416142 171416142 single base substitution C T intron_variant PACA-AU 5 171418611 171418611 single base substitution C A intron_variant PACA-AU 5 171420549 171420549 single base substitution G A intron_variant PACA-AU 5 171424864 171424864 single base substitution G A intron_variant PACA-AU 5 171424864 171424864 single base substitution G A upstream_gene_variant PACA-AU 5 171429604 171429604 single base substitution G T intron_variant PACA-AU 5 171433236 171433236 single base substitution G T intron_variant PACA-AU 5 171434587 171434587 single base substitution G A upstream_gene_variant PACA-AU 5 171436413 171436413 single base substitution T C upstream_gene_variant PACA-CA 5 171292000 171292000 single base substitution A G downstream_gene_variant PACA-CA 5 171292000 171292000 single base substitution A G intron_variant PACA-CA 5 171295245 171295245 single base substitution T A intron_variant PACA-CA 5 171295858 171295858 single base substitution C T intron_variant PACA-CA 5 171295858 171295858 single base substitution C T upstream_gene_variant PACA-CA 5 171296978 171296978 single base substitution A G intron_variant PACA-CA 5 171296978 171296978 single base substitution A G upstream_gene_variant PACA-CA 5 171298335 171298335 single base substitution G A intron_variant PACA-CA 5 171298335 171298335 single base substitution G A upstream_gene_variant PACA-CA 5 171298409 171298409 single base substitution C T downstream_gene_variant PACA-CA 5 171298409 171298409 single base substitution C T intron_variant PACA-CA 5 171298409 171298409 single base substitution C T upstream_gene_variant PACA-CA 5 171300645 171300645 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 171300645 171300645 insertion of <=200bp - A intron_variant PACA-CA 5 171300645 171300645 insertion of <=200bp - A upstream_gene_variant PACA-CA 5 171303070 171303071 deletion of <=200bp CA - downstream_gene_variant PACA-CA 5 171303070 171303071 deletion of <=200bp CA - intron_variant PACA-CA 5 171303634 171303634 single base substitution T G intron_variant PACA-CA 5 171303634 171303634 single base substitution T G upstream_gene_variant PACA-CA 5 171314123 171314123 single base substitution G T intron_variant PACA-CA 5 171315095 171315095 single base substitution G C intron_variant PACA-CA 5 171316903 171316903 single base substitution T A intron_variant PACA-CA 5 171319538 171319538 single base substitution G A intron_variant PACA-CA 5 171320791 171320791 single base substitution G A intron_variant PACA-CA 5 171320879 171320879 single base substitution G A intron_variant PACA-CA 5 171320946 171320946 single base substitution G A intron_variant PACA-CA 5 171324307 171324307 single base substitution T C downstream_gene_variant PACA-CA 5 171324307 171324307 single base substitution T C intron_variant PACA-CA 5 171325497 171325497 single base substitution C T downstream_gene_variant PACA-CA 5 171325497 171325497 single base substitution C T intron_variant PACA-CA 5 171325897 171325897 single base substitution A T downstream_gene_variant PACA-CA 5 171325897 171325897 single base substitution A T intron_variant PACA-CA 5 171327183 171327183 single base substitution G T intron_variant PACA-CA 5 171327526 171327526 single base substitution A C intron_variant PACA-CA 5 171331304 171331304 single base substitution A T intron_variant PACA-CA 5 171334764 171334764 single base substitution A G downstream_gene_variant PACA-CA 5 171334764 171334764 single base substitution A G intron_variant PACA-CA 5 171336309 171336309 single base substitution A G downstream_gene_variant PACA-CA 5 171336309 171336309 single base substitution A G intron_variant PACA-CA 5 171336309 171336309 single base substitution A G upstream_gene_variant PACA-CA 5 171340836 171340836 single base substitution C T intron_variant PACA-CA 5 171340836 171340836 single base substitution C T upstream_gene_variant PACA-CA 5 171346535 171346535 deletion of <=200bp A - intron_variant PACA-CA 5 171351845 171351845 single base substitution G A intron_variant PACA-CA 5 171352190 171352191 deletion of <=200bp CA - intron_variant PACA-CA 5 171355831 171355831 single base substitution C T intron_variant PACA-CA 5 171356421 171356421 single base substitution C T intron_variant PACA-CA 5 171360412 171360412 single base substitution G C intron_variant PACA-CA 5 171366067 171366067 single base substitution A C intron_variant PACA-CA 5 171368153 171368153 single base substitution A G intron_variant PACA-CA 5 171371104 171371104 single base substitution G A intron_variant PACA-CA 5 171371687 171371687 single base substitution T A intron_variant PACA-CA 5 171371992 171371992 single base substitution A G intron_variant PACA-CA 5 171384218 171384218 single base substitution T C intron_variant PACA-CA 5 171386517 171386517 single base substitution A T intron_variant PACA-CA 5 171390471 171390471 single base substitution C A intron_variant PACA-CA 5 171391280 171391280 single base substitution A G intron_variant PACA-CA 5 171393549 171393549 single base substitution A C intron_variant PACA-CA 5 171394923 171394923 single base substitution C T intron_variant PACA-CA 5 171395198 171395198 single base substitution C T intron_variant PACA-CA 5 171399093 171399093 single base substitution T C intron_variant PACA-CA 5 171400519 171400519 insertion of <=200bp - A intron_variant PACA-CA 5 171400616 171400616 single base substitution G A intron_variant PACA-CA 5 171402441 171402441 single base substitution C T intron_variant PACA-CA 5 171404538 171404538 single base substitution G T intron_variant PACA-CA 5 171406632 171406632 single base substitution A G intron_variant PACA-CA 5 171406632 171406632 single base substitution A G upstream_gene_variant PACA-CA 5 171412087 171412087 single base substitution A G intron_variant PACA-CA 5 171414068 171414068 single base substitution C G intron_variant PACA-CA 5 171417723 171417723 deletion of <=200bp A - intron_variant PACA-CA 5 171417915 171417915 single base substitution C T intron_variant PACA-CA 5 171420469 171420469 single base substitution C G intron_variant PACA-CA 5 171423721 171423721 single base substitution T C intron_variant PACA-CA 5 171425106 171425114 deletion of <=200bp CAGAAAGCC - intron_variant PACA-CA 5 171425106 171425114 deletion of <=200bp CAGAAAGCC - upstream_gene_variant PACA-CA 5 171426404 171426404 insertion of <=200bp - T intron_variant PACA-CA 5 171426404 171426404 insertion of <=200bp - T upstream_gene_variant PACA-CA 5 171430474 171430474 single base substitution G A intron_variant PACA-CA 5 171433580 171433580 single base substitution G T 5_prime_UTR_variant PACA-CA 5 171433580 171433580 single base substitution G T upstream_gene_variant PACA-CA 5 171434072 171434072 single base substitution C A upstream_gene_variant PACA-CA 5 171435682 171435682 single base substitution G T upstream_gene_variant PAEN-AU 5 171303871 171303871 single base substitution T C intron_variant PAEN-AU 5 171303871 171303871 single base substitution T C upstream_gene_variant PAEN-AU 5 171303979 171303979 single base substitution C A intron_variant PAEN-AU 5 171303979 171303979 single base substitution C A upstream_gene_variant PAEN-AU 5 171393474 171393474 single base substitution C T intron_variant PAEN-AU 5 171435162 171435162 single base substitution C T upstream_gene_variant PAEN-IT 5 171304100 171304100 single base substitution C A intron_variant PAEN-IT 5 171304100 171304100 single base substitution C A upstream_gene_variant PAEN-IT 5 171346167 171346167 single base substitution T C intron_variant PAEN-IT 5 171378319 171378319 single base substitution C A intron_variant PAEN-IT 5 171418077 171418077 single base substitution G C intron_variant PBCA-DE 5 171294496 171294496 single base substitution A T downstream_gene_variant PBCA-DE 5 171294496 171294496 single base substitution A T intron_variant PBCA-DE 5 171299444 171299444 single base substitution C T downstream_gene_variant PBCA-DE 5 171299444 171299444 single base substitution C T intron_variant PBCA-DE 5 171299444 171299444 single base substitution C T upstream_gene_variant PBCA-DE 5 171322710 171322710 single base substitution A G downstream_gene_variant PBCA-DE 5 171322710 171322710 single base substitution A G intron_variant PBCA-DE 5 171325546 171325546 single base substitution C T downstream_gene_variant PBCA-DE 5 171325546 171325546 single base substitution C T intron_variant PBCA-DE 5 171336690 171336691 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 5 171336690 171336691 deletion of <=200bp TG - intron_variant PBCA-DE 5 171336690 171336691 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 5 171337891 171337891 single base substitution T A intron_variant PBCA-DE 5 171337891 171337891 single base substitution T A upstream_gene_variant PBCA-DE 5 171341413 171341413 single base substitution G A intron_variant PBCA-DE 5 171341413 171341413 single base substitution G A splice_region_variant PBCA-DE 5 171347375 171347375 single base substitution C T intron_variant PBCA-DE 5 171347880 171347880 insertion of <=200bp - AGT intron_variant PBCA-DE 5 171349911 171349912 deletion of <=200bp GT - intron_variant PBCA-DE 5 171367135 171367135 single base substitution T C intron_variant PBCA-DE 5 171384303 171384303 insertion of <=200bp - T intron_variant PBCA-DE 5 171384602 171384602 single base substitution T A intron_variant PBCA-DE 5 171384602 171384602 single base substitution T A missense_variant Q49L 146A>T PBCA-DE 5 171384602 171384602 single base substitution T A splice_region_variant PBCA-DE 5 171389362 171389362 single base substitution T A intron_variant PBCA-DE 5 171395770 171395770 single base substitution C T intron_variant PBCA-DE 5 171399839 171399839 single base substitution G A intron_variant PBCA-DE 5 171402819 171402819 single base substitution G A intron_variant PBCA-DE 5 171403220 171403220 single base substitution G C intron_variant PBCA-DE 5 171408646 171408646 single base substitution C T intron_variant PBCA-DE 5 171408646 171408646 single base substitution C T upstream_gene_variant PBCA-DE 5 171431872 171431873 deletion of <=200bp CA - intron_variant PRAD-CA 5 171284483 171284483 single base substitution C T downstream_gene_variant PRAD-CA 5 171312905 171312905 single base substitution G A intron_variant PRAD-CA 5 171324036 171324036 single base substitution G A downstream_gene_variant PRAD-CA 5 171324036 171324036 single base substitution G A intron_variant PRAD-CA 5 171340822 171340822 single base substitution T C intron_variant PRAD-CA 5 171340822 171340822 single base substitution T C upstream_gene_variant PRAD-CA 5 171340844 171340844 single base substitution C T intron_variant PRAD-CA 5 171340844 171340844 single base substitution C T upstream_gene_variant PRAD-CA 5 171379426 171379426 single base substitution C T intron_variant PRAD-CA 5 171405779 171405779 single base substitution T G intron_variant PRAD-CA 5 171405779 171405779 single base substitution T G upstream_gene_variant PRAD-CA 5 171427325 171427325 single base substitution A T intron_variant PRAD-CA 5 171427325 171427325 single base substitution A T upstream_gene_variant PRAD-UK 5 171284624 171284624 single base substitution T A downstream_gene_variant PRAD-UK 5 171301185 171301185 single base substitution T C downstream_gene_variant PRAD-UK 5 171301185 171301185 single base substitution T C intron_variant PRAD-UK 5 171323594 171323594 deletion of <=200bp C - downstream_gene_variant PRAD-UK 5 171323594 171323594 deletion of <=200bp C - intron_variant PRAD-UK 5 171327672 171327672 single base substitution T C intron_variant PRAD-UK 5 171334737 171334737 single base substitution T G downstream_gene_variant PRAD-UK 5 171334737 171334737 single base substitution T G intron_variant PRAD-UK 5 171354887 171354887 single base substitution G A intron_variant PRAD-UK 5 171360358 171360358 single base substitution A C intron_variant PRAD-UK 5 171384137 171384137 single base substitution G A intron_variant PRAD-UK 5 171394710 171394710 single base substitution G C intron_variant PRAD-UK 5 171397694 171397694 single base substitution A G intron_variant PRAD-UK 5 171399507 171399517 deletion of <=200bp AAAAAAAAAAA - intron_variant PRAD-UK 5 171419450 171419450 insertion of <=200bp - GA intron_variant PRAD-UK 5 171419811 171419811 single base substitution C A intron_variant PRAD-UK 5 171433994 171433994 single base substitution G A upstream_gene_variant PRAD-US 5 171299983 171299983 single base substitution C A 3_prime_UTR_variant PRAD-US 5 171299983 171299983 single base substitution C A downstream_gene_variant PRAD-US 5 171299983 171299983 single base substitution C A exon_variant PRAD-US 5 171299983 171299983 single base substitution C A synonymous_variant T356T 1068G>T PRAD-US 5 171299983 171299983 single base substitution C A synonymous_variant T358T 1074G>T PRAD-US 5 171299983 171299983 single base substitution C A synonymous_variant T377T 1131G>T PRAD-US 5 171299983 171299983 single base substitution C A synonymous_variant T390T 1170G>T PRAD-US 5 171299983 171299983 single base substitution C A upstream_gene_variant PRAD-US 5 171318481 171318481 single base substitution T C 3_prime_UTR_variant PRAD-US 5 171318481 171318481 single base substitution T C exon_variant PRAD-US 5 171318481 171318481 single base substitution T C missense_variant N226S 677A>G PRAD-US 5 171318481 171318481 single base substitution T C missense_variant N228S 683A>G PRAD-US 5 171318481 171318481 single base substitution T C missense_variant N247S 740A>G PRAD-US 5 171318481 171318481 single base substitution T C missense_variant N260S 779A>G READ-US 5 171305113 171305113 single base substitution C G 3_prime_UTR_variant READ-US 5 171305113 171305113 single base substitution C G exon_variant READ-US 5 171305113 171305113 single base substitution C G synonymous_variant L236L 708G>C READ-US 5 171305113 171305113 single base substitution C G synonymous_variant L238L 714G>C READ-US 5 171305113 171305113 single base substitution C G synonymous_variant L257L 771G>C READ-US 5 171305113 171305113 single base substitution C G synonymous_variant L270L 810G>C READ-US 5 171305113 171305113 single base substitution C G upstream_gene_variant RECA-EU 5 171285312 171285312 single base substitution C A downstream_gene_variant RECA-EU 5 171290898 171290898 single base substitution C A 3_prime_UTR_variant RECA-EU 5 171290898 171290898 single base substitution C A downstream_gene_variant RECA-EU 5 171294326 171294326 single base substitution T A downstream_gene_variant RECA-EU 5 171294326 171294326 single base substitution T A intron_variant RECA-EU 5 171294854 171294854 single base substitution A C exon_variant RECA-EU 5 171294854 171294854 single base substitution A C intron_variant RECA-EU 5 171302522 171302522 single base substitution C A downstream_gene_variant RECA-EU 5 171302522 171302522 single base substitution C A intron_variant RECA-EU 5 171304407 171304407 single base substitution C T intron_variant RECA-EU 5 171304407 171304407 single base substitution C T upstream_gene_variant RECA-EU 5 171320128 171320128 single base substitution G A intron_variant RECA-EU 5 171330001 171330001 single base substitution T C intron_variant RECA-EU 5 171349392 171349392 single base substitution A G intron_variant RECA-EU 5 171362043 171362043 single base substitution C T intron_variant RECA-EU 5 171362082 171362082 single base substitution C T intron_variant RECA-EU 5 171385302 171385302 single base substitution A G intron_variant RECA-EU 5 171397441 171397441 single base substitution T G intron_variant RECA-EU 5 171416260 171416260 single base substitution G A intron_variant RECA-EU 5 171420424 171420424 single base substitution T A intron_variant SKCA-BR 5 171284389 171284389 single base substitution G A downstream_gene_variant SKCA-BR 5 171284453 171284453 single base substitution A C downstream_gene_variant SKCA-BR 5 171284479 171284500 deletion of <=200bp CTCTCTCTCTCTCTCTCTCTCT - downstream_gene_variant SKCA-BR 5 171284642 171284642 insertion of <=200bp - GC downstream_gene_variant SKCA-BR 5 171294495 171294495 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 5 171294495 171294495 insertion of <=200bp - TA intron_variant SKCA-BR 5 171294536 171294536 single base substitution G A downstream_gene_variant SKCA-BR 5 171294536 171294536 single base substitution G A intron_variant SKCA-BR 5 171294735 171294735 single base substitution G A downstream_gene_variant SKCA-BR 5 171294735 171294735 single base substitution G A intron_variant SKCA-BR 5 171301756 171301756 single base substitution C A downstream_gene_variant SKCA-BR 5 171301756 171301756 single base substitution C A intron_variant SKCA-BR 5 171305602 171305602 single base substitution G C intron_variant SKCA-BR 5 171305602 171305602 single base substitution G C upstream_gene_variant SKCA-BR 5 171316705 171316705 single base substitution A G intron_variant SKCA-BR 5 171318739 171318739 single base substitution G A intron_variant SKCA-BR 5 171320425 171320427 deletion of <=200bp CAA - intron_variant SKCA-BR 5 171323431 171323431 single base substitution G A downstream_gene_variant SKCA-BR 5 171323431 171323431 single base substitution G A intron_variant SKCA-BR 5 171323904 171323904 single base substitution T C downstream_gene_variant SKCA-BR 5 171323904 171323904 single base substitution T C intron_variant SKCA-BR 5 171329426 171329426 single base substitution T G intron_variant SKCA-BR 5 171329931 171329931 single base substitution G T intron_variant SKCA-BR 5 171331616 171331616 single base substitution G A intron_variant SKCA-BR 5 171332059 171332059 single base substitution A G intron_variant SKCA-BR 5 171332603 171332604 deletion of <=200bp CT - intron_variant SKCA-BR 5 171332603 171332605 deletion of <=200bp CTT - intron_variant SKCA-BR 5 171337065 171337065 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 5 171337065 171337065 insertion of <=200bp - CT intron_variant SKCA-BR 5 171337065 171337065 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 5 171340834 171340834 insertion of <=200bp - CACACACAT intron_variant SKCA-BR 5 171340834 171340834 insertion of <=200bp - CACACACAT upstream_gene_variant SKCA-BR 5 171340836 171340836 insertion of <=200bp - CACACAT intron_variant SKCA-BR 5 171340836 171340836 insertion of <=200bp - CACACAT upstream_gene_variant SKCA-BR 5 171340840 171340840 insertion of <=200bp - CAT intron_variant SKCA-BR 5 171340840 171340840 insertion of <=200bp - CAT upstream_gene_variant SKCA-BR 5 171349634 171349634 single base substitution G A intron_variant SKCA-BR 5 171355426 171355426 single base substitution G A intron_variant SKCA-BR 5 171357781 171357781 single base substitution G A intron_variant SKCA-BR 5 171363545 171363545 single base substitution T A intron_variant SKCA-BR 5 171366700 171366701 deletion of <=200bp CA - intron_variant SKCA-BR 5 171368118 171368118 single base substitution G A intron_variant SKCA-BR 5 171369993 171369993 single base substitution G A intron_variant SKCA-BR 5 171371055 171371055 single base substitution G C intron_variant SKCA-BR 5 171371608 171371608 single base substitution G A intron_variant SKCA-BR 5 171372226 171372226 single base substitution G T intron_variant SKCA-BR 5 171372872 171372872 single base substitution A G intron_variant SKCA-BR 5 171373377 171373377 single base substitution A C intron_variant SKCA-BR 5 171374556 171374556 single base substitution A C intron_variant SKCA-BR 5 171374789 171374789 single base substitution T G intron_variant SKCA-BR 5 171376699 171376699 single base substitution T A intron_variant SKCA-BR 5 171379453 171379453 single base substitution T A intron_variant SKCA-BR 5 171382509 171382509 single base substitution G A intron_variant SKCA-BR 5 171385464 171385464 single base substitution G A intron_variant SKCA-BR 5 171386861 171386861 insertion of <=200bp - AAAAG intron_variant SKCA-BR 5 171394843 171394843 insertion of <=200bp - CA intron_variant SKCA-BR 5 171394859 171394869 deletion of <=200bp CATATATATAT - intron_variant SKCA-BR 5 171394875 171394889 deletion of <=200bp TATATATATATATAC - intron_variant SKCA-BR 5 171395410 171395410 single base substitution G C intron_variant SKCA-BR 5 171398024 171398024 single base substitution G A intron_variant SKCA-BR 5 171398025 171398025 single base substitution G A intron_variant SKCA-BR 5 171405410 171405410 single base substitution G A intron_variant SKCA-BR 5 171405410 171405410 single base substitution G A upstream_gene_variant SKCA-BR 5 171408030 171408030 single base substitution A C intron_variant SKCA-BR 5 171408030 171408030 single base substitution A C upstream_gene_variant SKCA-BR 5 171409050 171409050 single base substitution G A intron_variant SKCA-BR 5 171409050 171409050 single base substitution G A upstream_gene_variant SKCA-BR 5 171409243 171409243 single base substitution A G intron_variant SKCA-BR 5 171409243 171409243 single base substitution A G upstream_gene_variant SKCA-BR 5 171409794 171409794 single base substitution G T intron_variant SKCA-BR 5 171410261 171410261 single base substitution G A intron_variant SKCA-BR 5 171411200 171411200 single base substitution C T intron_variant SKCA-BR 5 171412752 171412752 single base substitution G A intron_variant SKCA-BR 5 171418278 171418278 single base substitution G A intron_variant SKCA-BR 5 171423488 171423495 deletion of <=200bp TGGTGAGA - intron_variant SKCA-BR 5 171425365 171425365 single base substitution G A intron_variant SKCA-BR 5 171425365 171425365 single base substitution G A upstream_gene_variant SKCA-BR 5 171426446 171426446 single base substitution C T intron_variant SKCA-BR 5 171426446 171426446 single base substitution C T upstream_gene_variant SKCA-BR 5 171431871 171431871 insertion of <=200bp - GCACA intron_variant SKCA-BR 5 171433909 171433909 single base substitution C T upstream_gene_variant SKCA-BR 5 171434370 171434370 single base substitution C T upstream_gene_variant SKCA-BR 5 171436136 171436136 single base substitution T A upstream_gene_variant SKCA-BR 5 171436160 171436160 single base substitution T G upstream_gene_variant SKCA-BR 5 171436187 171436187 single base substitution A C upstream_gene_variant SKCA-BR 5 171436191 171436191 single base substitution T C upstream_gene_variant SKCA-BR 5 171437664 171437674 deletion of <=200bp CTATATATATA - upstream_gene_variant SKCA-BR 5 171437673 171437730 deletion of <=200bp TATATATATATATATATATATATATATATATATATATATACACACATACATATATATA - upstream_gene_variant SKCA-BR 5 171437711 171437721 deletion of <=200bp TACACACATAC - upstream_gene_variant SKCM-US 5 171295671 171295671 single base substitution G A 3_prime_UTR_variant SKCM-US 5 171295671 171295671 single base substitution G A exon_variant SKCM-US 5 171295671 171295671 single base substitution G A missense_variant P499S 1495C>T SKCM-US 5 171295671 171295671 single base substitution G A missense_variant P501S 1501C>T SKCM-US 5 171295671 171295671 single base substitution G A missense_variant P520S 1558C>T SKCM-US 5 171295671 171295671 single base substitution G A missense_variant P533S 1597C>T SKCM-US 5 171295671 171295671 single base substitution G A upstream_gene_variant SKCM-US 5 171295697 171295697 single base substitution G A 3_prime_UTR_variant SKCM-US 5 171295697 171295697 single base substitution G A exon_variant SKCM-US 5 171295697 171295697 single base substitution G A missense_variant P490L 1469C>T SKCM-US 5 171295697 171295697 single base substitution G A missense_variant P492L 1475C>T SKCM-US 5 171295697 171295697 single base substitution G A missense_variant P511L 1532C>T SKCM-US 5 171295697 171295697 single base substitution G A missense_variant P524L 1571C>T SKCM-US 5 171295697 171295697 single base substitution G A upstream_gene_variant SKCM-US 5 171299925 171299925 single base substitution G A 3_prime_UTR_variant SKCM-US 5 171299925 171299925 single base substitution G A downstream_gene_variant SKCM-US 5 171299925 171299925 single base substitution G A exon_variant SKCM-US 5 171299925 171299925 single base substitution G A stop_gained Q376* 1126C>T SKCM-US 5 171299925 171299925 single base substitution G A stop_gained Q378* 1132C>T SKCM-US 5 171299925 171299925 single base substitution G A stop_gained Q397* 1189C>T SKCM-US 5 171299925 171299925 single base substitution G A stop_gained Q410* 1228C>T SKCM-US 5 171299925 171299925 single base substitution G A upstream_gene_variant SKCM-US 5 171318532 171318532 single base substitution A T 3_prime_UTR_variant SKCM-US 5 171318532 171318532 single base substitution A T exon_variant SKCM-US 5 171318532 171318532 single base substitution A T missense_variant V209D 626T>A SKCM-US 5 171318532 171318532 single base substitution A T missense_variant V211D 632T>A SKCM-US 5 171318532 171318532 single base substitution A T missense_variant V230D 689T>A SKCM-US 5 171318532 171318532 single base substitution A T missense_variant V243D 728T>A SKCM-US 5 171327049 171327049 single base substitution A G 3_prime_UTR_variant SKCM-US 5 171327049 171327049 single base substitution A G exon_variant SKCM-US 5 171327049 171327049 single base substitution A G synonymous_variant S109S 327T>C SKCM-US 5 171327049 171327049 single base substitution A G synonymous_variant S111S 333T>C SKCM-US 5 171327049 171327049 single base substitution A G synonymous_variant S130S 390T>C SKCM-US 5 171327049 171327049 single base substitution A G synonymous_variant S143S 429T>C SKCM-US 5 171327049 171327049 single base substitution A G synonymous_variant S164S 492T>C SKCM-US 5 171327068 171327068 single base substitution G A 3_prime_UTR_variant SKCM-US 5 171327068 171327068 single base substitution G A exon_variant SKCM-US 5 171327068 171327068 single base substitution G A missense_variant S103L 308C>T SKCM-US 5 171327068 171327068 single base substitution G A missense_variant S105L 314C>T SKCM-US 5 171327068 171327068 single base substitution G A missense_variant S124L 371C>T SKCM-US 5 171327068 171327068 single base substitution G A missense_variant S137L 410C>T SKCM-US 5 171327068 171327068 single base substitution G A missense_variant S158L 473C>T SKCM-US 5 171337701 171337701 single base substitution C T 3_prime_UTR_variant SKCM-US 5 171337701 171337701 single base substitution C T downstream_gene_variant SKCM-US 5 171337701 171337701 single base substitution C T stop_gained W104* 311G>A SKCM-US 5 171337701 171337701 single base substitution C T stop_gained W49* 146G>A SKCM-US 5 171337701 171337701 single base substitution C T stop_gained W51* 152G>A SKCM-US 5 171337701 171337701 single base substitution C T stop_gained W66* 197G>A SKCM-US 5 171337701 171337701 single base substitution C T stop_gained W70* 209G>A SKCM-US 5 171337701 171337701 single base substitution C T stop_gained W83* 248G>A SKCM-US 5 171337701 171337701 single base substitution C T upstream_gene_variant STAD-US 5 171295748 171295748 single base substitution C A 3_prime_UTR_variant STAD-US 5 171295748 171295748 single base substitution C A exon_variant STAD-US 5 171295748 171295748 single base substitution C A missense_variant S473I 1418G>T STAD-US 5 171295748 171295748 single base substitution C A missense_variant S475I 1424G>T STAD-US 5 171295748 171295748 single base substitution C A missense_variant S494I 1481G>T STAD-US 5 171295748 171295748 single base substitution C A missense_variant S507I 1520G>T STAD-US 5 171295748 171295748 single base substitution C A upstream_gene_variant STAD-US 5 171295779 171295779 single base substitution G A 3_prime_UTR_variant STAD-US 5 171295779 171295779 single base substitution G A exon_variant STAD-US 5 171295779 171295779 single base substitution G A missense_variant R463W 1387C>T STAD-US 5 171295779 171295779 single base substitution G A missense_variant R465W 1393C>T STAD-US 5 171295779 171295779 single base substitution G A missense_variant R484W 1450C>T STAD-US 5 171295779 171295779 single base substitution G A missense_variant R497W 1489C>T STAD-US 5 171295779 171295779 single base substitution G A upstream_gene_variant STAD-US 5 171299912 171299912 single base substitution C T 3_prime_UTR_variant STAD-US 5 171299912 171299912 single base substitution C T downstream_gene_variant STAD-US 5 171299912 171299912 single base substitution C T exon_variant STAD-US 5 171299912 171299912 single base substitution C T missense_variant R380H 1139G>A STAD-US 5 171299912 171299912 single base substitution C T missense_variant R382H 1145G>A STAD-US 5 171299912 171299912 single base substitution C T missense_variant R401H 1202G>A STAD-US 5 171299912 171299912 single base substitution C T missense_variant R414H 1241G>A STAD-US 5 171299912 171299912 single base substitution C T upstream_gene_variant STAD-US 5 171299913 171299913 single base substitution G A 3_prime_UTR_variant STAD-US 5 171299913 171299913 single base substitution G A downstream_gene_variant STAD-US 5 171299913 171299913 single base substitution G A exon_variant STAD-US 5 171299913 171299913 single base substitution G A missense_variant R380C 1138C>T STAD-US 5 171299913 171299913 single base substitution G A missense_variant R382C 1144C>T STAD-US 5 171299913 171299913 single base substitution G A missense_variant R401C 1201C>T STAD-US 5 171299913 171299913 single base substitution G A missense_variant R414C 1240C>T STAD-US 5 171299913 171299913 single base substitution G A upstream_gene_variant STAD-US 5 171299942 171299942 single base substitution C T 3_prime_UTR_variant STAD-US 5 171299942 171299942 single base substitution C T downstream_gene_variant STAD-US 5 171299942 171299942 single base substitution C T exon_variant STAD-US 5 171299942 171299942 single base substitution C T missense_variant R370Q 1109G>A STAD-US 5 171299942 171299942 single base substitution C T missense_variant R372Q 1115G>A STAD-US 5 171299942 171299942 single base substitution C T missense_variant R391Q 1172G>A STAD-US 5 171299942 171299942 single base substitution C T missense_variant R404Q 1211G>A STAD-US 5 171299942 171299942 single base substitution C T upstream_gene_variant STAD-US 5 171303497 171303497 single base substitution A T 3_prime_UTR_variant STAD-US 5 171303497 171303497 single base substitution A T exon_variant STAD-US 5 171303497 171303497 single base substitution A T missense_variant I283N 848T>A STAD-US 5 171303497 171303497 single base substitution A T missense_variant I285N 854T>A STAD-US 5 171303497 171303497 single base substitution A T missense_variant I304N 911T>A STAD-US 5 171303497 171303497 single base substitution A T missense_variant I317N 950T>A STAD-US 5 171303497 171303497 single base substitution A T upstream_gene_variant STAD-US 5 171305054 171305054 single base substitution T A 3_prime_UTR_variant STAD-US 5 171305054 171305054 single base substitution T A exon_variant STAD-US 5 171305054 171305054 single base substitution T A missense_variant E256V 767A>T STAD-US 5 171305054 171305054 single base substitution T A missense_variant E258V 773A>T STAD-US 5 171305054 171305054 single base substitution T A missense_variant E277V 830A>T STAD-US 5 171305054 171305054 single base substitution T A missense_variant E290V 869A>T STAD-US 5 171305054 171305054 single base substitution T A upstream_gene_variant STAD-US 5 171305130 171305130 single base substitution A G 3_prime_UTR_variant STAD-US 5 171305130 171305130 single base substitution A G exon_variant STAD-US 5 171305130 171305130 single base substitution A G missense_variant W231R 691T>C STAD-US 5 171305130 171305130 single base substitution A G missense_variant W233R 697T>C STAD-US 5 171305130 171305130 single base substitution A G missense_variant W252R 754T>C STAD-US 5 171305130 171305130 single base substitution A G missense_variant W265R 793T>C STAD-US 5 171305130 171305130 single base substitution A G upstream_gene_variant STAD-US 5 171318497 171318497 single base substitution T C 3_prime_UTR_variant STAD-US 5 171318497 171318497 single base substitution T C exon_variant STAD-US 5 171318497 171318497 single base substitution T C missense_variant S221G 661A>G STAD-US 5 171318497 171318497 single base substitution T C missense_variant S223G 667A>G STAD-US 5 171318497 171318497 single base substitution T C missense_variant S242G 724A>G STAD-US 5 171318497 171318497 single base substitution T C missense_variant S255G 763A>G STAD-US 5 171337640 171337640 single base substitution C T 3_prime_UTR_variant STAD-US 5 171337640 171337640 single base substitution C T downstream_gene_variant STAD-US 5 171337640 171337640 single base substitution C T synonymous_variant Q103Q 309G>A STAD-US 5 171337640 171337640 single base substitution C T synonymous_variant Q124Q 372G>A STAD-US 5 171337640 171337640 single base substitution C T synonymous_variant Q69Q 207G>A STAD-US 5 171337640 171337640 single base substitution C T synonymous_variant Q71Q 213G>A STAD-US 5 171337640 171337640 single base substitution C T synonymous_variant Q90Q 270G>A STAD-US 5 171337640 171337640 single base substitution C T upstream_gene_variant STAD-US 5 171384609 171384609 single base substitution A G 3_prime_UTR_variant STAD-US 5 171384609 171384609 single base substitution A G intron_variant STAD-US 5 171384609 171384609 single base substitution A G missense_variant C47R 139T>C UCEC-US 5 171295779 171295779 single base substitution G A 3_prime_UTR_variant UCEC-US 5 171295779 171295779 single base substitution G A exon_variant UCEC-US 5 171295779 171295779 single base substitution G A missense_variant R463W 1387C>T UCEC-US 5 171295779 171295779 single base substitution G A missense_variant R465W 1393C>T UCEC-US 5 171295779 171295779 single base substitution G A missense_variant R484W 1450C>T UCEC-US 5 171295779 171295779 single base substitution G A missense_variant R497W 1489C>T UCEC-US 5 171295779 171295779 single base substitution G A upstream_gene_variant UCEC-US 5 171297761 171297761 single base substitution G A 3_prime_UTR_variant UCEC-US 5 171297761 171297761 single base substitution G A exon_variant UCEC-US 5 171297761 171297761 single base substitution G A missense_variant A426V 1277C>T UCEC-US 5 171297761 171297761 single base substitution G A missense_variant A428V 1283C>T UCEC-US 5 171297761 171297761 single base substitution G A missense_variant A447V 1340C>T UCEC-US 5 171297761 171297761 single base substitution G A missense_variant A460V 1379C>T UCEC-US 5 171297761 171297761 single base substitution G A upstream_gene_variant UCEC-US 5 171303394 171303394 single base substitution G A 3_prime_UTR_variant UCEC-US 5 171303394 171303394 single base substitution G A downstream_gene_variant UCEC-US 5 171303394 171303394 single base substitution G A synonymous_variant T317T 951C>T UCEC-US 5 171303394 171303394 single base substitution G A synonymous_variant T319T 957C>T UCEC-US 5 171303394 171303394 single base substitution G A synonymous_variant T338T 1014C>T UCEC-US 5 171303394 171303394 single base substitution G A synonymous_variant T351T 1053C>T UCEC-US 5 171303394 171303394 single base substitution G A upstream_gene_variant UCEC-US 5 171318553 171318553 single base substitution C T 3_prime_UTR_variant UCEC-US 5 171318553 171318553 single base substitution C T exon_variant UCEC-US 5 171318553 171318553 single base substitution C T missense_variant R202H 605G>A UCEC-US 5 171318553 171318553 single base substitution C T missense_variant R204H 611G>A UCEC-US 5 171318553 171318553 single base substitution C T missense_variant R223H 668G>A UCEC-US 5 171318553 171318553 single base substitution C T missense_variant R236H 707G>A UCEC-US 5 171326047 171326047 single base substitution A G 3_prime_UTR_variant UCEC-US 5 171326047 171326047 single base substitution A G downstream_gene_variant UCEC-US 5 171326047 171326047 single base substitution A G exon_variant UCEC-US 5 171326047 171326047 single base substitution A G synonymous_variant F170F 510T>C UCEC-US 5 171326047 171326047 single base substitution A G synonymous_variant F172F 516T>C UCEC-US 5 171326047 171326047 single base substitution A G synonymous_variant F191F 573T>C UCEC-US 5 171326047 171326047 single base substitution A G synonymous_variant F204F 612T>C UCEC-US 5 171337627 171337627 single base substitution T C 3_prime_UTR_variant UCEC-US 5 171337627 171337627 single base substitution T C downstream_gene_variant UCEC-US 5 171337627 171337627 single base substitution T C missense_variant N108D 322A>G UCEC-US 5 171337627 171337627 single base substitution T C missense_variant N129D 385A>G UCEC-US 5 171337627 171337627 single base substitution T C missense_variant N74D 220A>G UCEC-US 5 171337627 171337627 single base substitution T C missense_variant N76D 226A>G UCEC-US 5 171337627 171337627 single base substitution T C missense_variant N95D 283A>G UCEC-US 5 171337627 171337627 single base substitution T C upstream_gene_variant UCEC-US 5 171337655 171337655 single base substitution T G 3_prime_UTR_variant UCEC-US 5 171337655 171337655 single base substitution T G downstream_gene_variant UCEC-US 5 171337655 171337655 single base substitution T G synonymous_variant R119R 357A>C UCEC-US 5 171337655 171337655 single base substitution T G synonymous_variant R64R 192A>C UCEC-US 5 171337655 171337655 single base substitution T G synonymous_variant R66R 198A>C UCEC-US 5 171337655 171337655 single base substitution T G synonymous_variant R85R 255A>C UCEC-US 5 171337655 171337655 single base substitution T G synonymous_variant R98R 294A>C UCEC-US 5 171337655 171337655 single base substitution T G upstream_gene_variant UCEC-US 5 171337690 171337690 single base substitution C T 3_prime_UTR_variant UCEC-US 5 171337690 171337690 single base substitution C T downstream_gene_variant UCEC-US 5 171337690 171337690 single base substitution C T missense_variant D108N 322G>A UCEC-US 5 171337690 171337690 single base substitution C T missense_variant D53N 157G>A UCEC-US 5 171337690 171337690 single base substitution C T missense_variant D55N 163G>A UCEC-US 5 171337690 171337690 single base substitution C T missense_variant D70N 208G>A UCEC-US 5 171337690 171337690 single base substitution C T missense_variant D74N 220G>A UCEC-US 5 171337690 171337690 single base substitution C T missense_variant D87N 259G>A UCEC-US 5 171337690 171337690 single base substitution C T upstream_gene_variant UCEC-US 5 171337724 171337724 single base substitution C T 3_prime_UTR_variant UCEC-US 5 171337724 171337724 single base substitution C T downstream_gene_variant UCEC-US 5 171337724 171337724 single base substitution C T synonymous_variant L41L 123G>A UCEC-US 5 171337724 171337724 single base substitution C T synonymous_variant L43L 129G>A UCEC-US 5 171337724 171337724 single base substitution C T synonymous_variant L58L 174G>A UCEC-US 5 171337724 171337724 single base substitution C T synonymous_variant L62L 186G>A UCEC-US 5 171337724 171337724 single base substitution C T synonymous_variant L75L 225G>A UCEC-US 5 171337724 171337724 single base substitution C T synonymous_variant L96L 288G>A UCEC-US 5 171337724 171337724 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Gp2D COSM4628408 c.516A>G p.V172V Substitution - coding silent 5:171899958-171899958 - ML3 COSM1165505 c.602C>A p.P201Q Substitution - Missense 5:171899053-171899053 - HCC160T COSM5819251 c.1413A>G p.Q471Q Substitution - coding silent 5:171869783-171869783 - SC_9047 COSM5569943 c.162A>T p.T54T Substitution - coding silent 5:171910783-171910783 - TCGA-BR-A4J1-01 COSM3853701 c.1520G>T p.S507I Substitution - Missense 5:171868744-171868744 - TCGA-BT-A20T-01 COSM420784 c.447G>T p.L149L Substitution - coding silent 5:171900027-171900027 - TCGA-BR-8680-01 COSM1065799 c.1489C>T p.R497W Substitution - Missense 5:171868775-171868775 - TCGA-FW-A3R5-06 COSM3919692 c.728T>A p.V243D Substitution - Missense 5:171891528-171891528 - YUPROST COSM1696750 c.1340G>T p.R447L Substitution - Missense 5:171870796-171870796 - 61 COSM5737423 c.1169C>T p.T390M Substitution - Missense 5:171872980-171872980 - TCGA-EE-A3AB-06 COSM3614167 c.429T>C p.S143S Substitution - coding silent 5:171900045-171900045 - CML012T COSM5802948 c.1313T>A p.V438D Substitution - Missense 5:171870823-171870823 - TCGA-CH-5768-01 COSM1132209 c.1170G>T p.T390T Substitution - coding silent 5:171872979-171872979 - TCGA-AD-5900-01 COSM3697143 c.8C>A p.P3H Substitution - Missense 5:172006495-172006495 - TCGA-CG-5721-01 COSM3853713 c.763A>G p.S255G Substitution - Missense 5:171891493-171891493 - PT23_2 COSM5903539 c.1278-8C>T p.? Unknown 5:171870866-171870866 - TCGA-AX-A0J0-01 COSM1065799 c.1489C>T p.R497W Substitution - Missense 5:171868775-171868775 - TCGA-B5-A11E-01 COSM1065811 c.294A>C p.R98R Substitution - coding silent 5:171910651-171910651 - SW837 COSM4346950 c.1088G>A p.R363Q Substitution - Missense 5:171876355-171876355 - TCGA-AP-A051-01 COSM1065801 c.1379C>T p.A460V Substitution - Missense 5:171870757-171870757 - TCGA-BT-A20N-01 COSM420786 c.707G>A p.R236H Substitution - Missense 5:171891549-171891549 - TCGA-AM-5820-01 COSM3697141 c.449T>C p.V150A Substitution - Missense 5:171900025-171900025 - TCGA-EE-A3JD-06 COSM4395439 c.1571C>T p.P524L Substitution - Missense 5:171868693-171868693 - T469 COSM4684068 c.517C>T p.R173C Substitution - Missense 5:171899957-171899957 - Sample_1 COSM4997647 c.1219G>A p.A407T Substitution - Missense 5:171872930-171872930 - 8016470 COSM3393443 c.1069C>T p.R357C Substitution - Missense 5:171876374-171876374 - HCC2157 COSM50194 c.780_788delTTCTATTAA p.N260_I262 Deletion - In frame 5:171891468-171891476 - T2197 COSM3853703 c.1241G>A p.R414H Substitution - Missense 5:171872908-171872908 - TCGA-BR-6452-01 COSM3853707 c.950T>A p.I317N Substitution - Missense 5:171876493-171876493 - TCGA-AX-A0J0-01 COSM1065807 c.612T>C p.F204F Substitution - coding silent 5:171899043-171899043 - TCGA-D9-A6EC-06 COSM4405453 c.248G>A p.W83* Substitution - Nonsense 5:171910697-171910697 - TCGA-EE-A181-06 COSM3614169 c.410C>T p.S137L Substitution - Missense 5:171900064-171900064 - TCGA-CG-4465-01 COSM208036 c.1211G>A p.R404Q Substitution - Missense 5:171872938-171872938 - TCGA-AP-A0LT-01 COSM1065813 c.259G>A p.D87N Substitution - Missense 5:171910686-171910686 - TCGA-BR-7851-01 COSM3853705 c.1240C>T p.R414C Substitution - Missense 5:171872909-171872909 - TCGA-D5-6928-01 COSM1436013 c.1480C>T p.R494C Substitution - Missense 5:171868784-171868784 - T20 COSM4684064 c.1591C>T p.R531C Substitution - Missense 5:171868673-171868673 - TCGA-A6-6653-01 COSM1436015 c.847G>A p.V283I Substitution - Missense 5:171878072-171878072 - TCGA-AA-A010-01 COSM281105 c.856C>A p.L286M Substitution - Missense 5:171878063-171878063 - TCGA-EE-A29D-06 COSM3614165 c.1228C>T p.Q410* Substitution - Nonsense 5:171872921-171872921 - T2225 COSM4684070 c.508C>T p.R170* Substitution - Nonsense 5:171899966-171899966 - 98735 COSM325335 c.1014G>C p.K338N Substitution - Missense 5:171876429-171876429 - TCGA-BR-8680-01 COSM3853703 c.1241G>A p.R414H Substitution - Missense 5:171872908-171872908 - TCGA-BR-4361-01 COSM3853717 c.139T>C p.C47R Substitution - Missense 5:171957605-171957605 - SNU-175 COSM3339532 c.1019G>A p.R340H Substitution - Missense 5:171876424-171876424 - YUTUR COSM4969210 c.679C>T p.R227* Substitution - Nonsense 5:171891577-171891577 - TCGA-FU-A3HZ-01 COSM4840673 c.816T>G p.C272W Substitution - Missense 5:171878103-171878103 - TCGA-EE-A29H-06 COSM3614163 c.1597C>T p.P533S Substitution - Missense 5:171868667-171868667 - SJHGG015_D COSM1065799 c.1489C>T p.R497W Substitution - Missense 5:171868775-171868775 - TCGA-66-2788-01 COSM737711 c.906G>T p.V302V Substitution - coding silent 5:171878013-171878013 - TCGA-66-2795-01 COSM737713 c.1283G>C p.W428S Substitution - Missense 5:171870853-171870853 - HCT8 COSM4635243 c.1106T>C p.V369A Substitution - Missense 5:171876337-171876337 - TCGA-HU-8602-01 COSM3853715 c.309G>A p.Q103Q Substitution - coding silent 5:171910636-171910636 - TCGA-AG-3892-01 COSM256948 c.1041G>A p.M347I Substitution - Missense 5:171876402-171876402 - ESCC_126 COSM5641370 c.262C>G p.Q88E Substitution - Missense 5:171910683-171910683 - TCGA-A6-5661-01 COSM1436021 c.465G>A p.Q155Q Substitution - coding silent 5:171900009-171900009 - LIM1899 COSM4640650 c.1343G>A p.C448Y Substitution - Missense 5:171870793-171870793 - TCGA-CA-6717-01 COSM1436023 c.293G>A p.R98Q Substitution - Missense 5:171910652-171910652 - EGC28 COSM5060937 c.1242C>T p.R414R Substitution - coding silent 5:171872907-171872907 - T3444 COSM4684066 c.1223G>A p.C408Y Substitution - Missense 5:171872926-171872926 - YULAD COSM5403079 c.515T>C p.V172A Substitution - Missense 5:171899959-171899959 - TCGA-AA-3558-01 COSM292399 c.1142G>A p.G381D Substitution - Missense 5:171876301-171876301 - RK095_C01 COSM3702778 c.1389-9C>G p.? Unknown 5:171869816-171869816 - TCGA-FV-A23B-01 COSM4914176 c.1457G>A p.R486H Substitution - Missense 5:171869739-171869739 - HCC2998 COSM3339544 c.800A>C p.K267T Substitution - Missense 5:171878119-171878119 - 2521260 COSM5891380 c.14C>T p.S5L Substitution - Missense 5:172006489-172006489 - GHE0609 COSM5714224 c.270A>T p.E90D Substitution - Missense 5:171910675-171910675 - TCGA-EI-7002-01 COSM3429280 c.810G>C p.L270L Substitution - coding silent 5:171878109-171878109 - TCGA-AX-A0J1-01 COSM420786 c.707G>A p.R236H Substitution - Missense 5:171891549-171891549 - TCGA-BG-A0VZ-01 COSM1065803 c.1067G>A p.R356H Substitution - Missense 5:171876376-171876376 - TCGA-A3-3357-01 COSM482517 c.1196T>C p.L399P Substitution - Missense 5:171872953-171872953 - TCGA-CG-5732-01 COSM3853711 c.793T>C p.W265R Substitution - Missense 5:171878126-171878126 - TCGA-AP-A059-01 COSM1065809 c.322A>G p.N108D Substitution - Missense 5:171910623-171910623 - pfg129T COSM3853705 c.1240C>T p.R414C Substitution - Missense 5:171872909-171872909 - T3021 COSM4684072 c.79G>A p.A27T Substitution - Missense 5:171957665-171957665 - TCGA-C5-A1BM-01 COSM4826433 c.1227C>T p.L409L Substitution - coding silent 5:171872922-171872922 - Pat_34_A COSM5868164 c.561G>A p.W187* Substitution - Nonsense 5:171899094-171899094 - 5853_CLM COSM5756635 c.1466T>C p.V489A Substitution - Missense 5:171869730-171869730 - XHDG04 COSM4768149 c.1622C>G p.S541C Substitution - Missense 5:171868642-171868642 - ESCC_1 COSM5622479 c.352G>A p.D118N Substitution - Missense 5:171910593-171910593 - SJHGG015_D COSM4969210 c.679C>T p.R227* Substitution - Nonsense 5:171891577-171891577 - TCGA-A2-A0EY-01 COSM449323 c.1518C>T p.I506I Substitution - coding silent 5:171868746-171868746 - TCGA-B5-A0K9-01 COSM1065805 c.1053C>T p.T351T Substitution - coding silent 5:171876390-171876390 - YUCHIME COSM1696752 c.526C>T p.P176S Substitution - Missense 5:171899948-171899948 - HCC113T COSM5808362 c.1135G>T p.A379S Substitution - Missense 5:171876308-171876308 - TCGA-24-1551-01 COSM70761 c.706C>T p.R236C Substitution - Missense 5:171891550-171891550 - TCGA-32-1970-01 COSM3410141 c.1210C>T p.R404W Substitution - Missense 5:171872939-171872939 - 587376 COSM1206868 c.1117G>A p.D373N Substitution - Missense 5:171876326-171876326 - PR-2916 COSM244477 c.898T>G p.S300A Substitution - Missense 5:171878021-171878021 - TCGA-EJ-7123-01 COSM3674391 c.779A>G p.N260S Substitution - Missense 5:171891477-171891477 - J90_T COSM3947274 c.1481G>T p.R494L Substitution - Missense 5:171868783-171868783 - 234 COSM208036 c.1211G>A p.R404Q Substitution - Missense 5:171872938-171872938 - TCGA-CA-6718-01 COSM1436019 c.651+2T>C p.? Unknown 5:171899002-171899002 - TCGA-HU-A4GN-01 COSM3853709 c.869A>T p.E290V Substitution - Missense 5:171878050-171878050 - TCGA-D1-A17M-01 COSM1065815 c.225G>A p.L75L Substitution - coding silent 5:171910720-171910720 - MO_1202 COSM5565599 c.1018C>G p.R340G Substitution - Missense 5:171876425-171876425 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.484138 5q35.1 605651

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.148-15075T>G 5 171352876 CLL A G Missense p.L399P c.1196T>C 5 171299957 RCCC A G Missense p.V294A c.881T>C 5 171305042 CM A G Missense p.W265R c.793T>C 5 171305130 STAD A G Synonymous p.S143S c.429T>C 5 171327049 CM A - IntronicDeletion . c.789+19delT 5 171318452 STAD C A Synonymous p.T390T c.1170G>T 5 171299983 PRAD C A Synonymous p.V302V c.906G>T 5 171305017 LUSC C G Missense p.K338N c.1014G>C 5 171303433 SCLC C G Missense p.W428S c.1283G>C 5 171297857 LUSC C T Missense p.D87N c.259G>A 5 171337690 UCEC C T Missense p.G381D c.1142G>A 5 171303305 COREAD C T Missense p.R236H c.707G>A 5 171318553 BLCA C T Missense p.R404Q c.1211G>A 5 171299942 STAD C T Nonsense p.W468* c.1404G>A 5 171296796 CM C T Synonymous p.L75L c.225G>A 5 171337724 UCEC G A Missense p.P524L c.1571C>T 5 171295697 CM G A Missense p.P533S c.1597C>T 5 171295671 CM G A Missense p.R236C c.706C>T 5 171318554 OV G A Missense p.R404W c.1210C>T 5 171299943 GBM G A Missense p.S137L c.410C>T 5 171327068 CM G A Synonymous p.I506I c.1518C>T 5 171295750 BRCA G A Synonymous p.T351T c.1053C>T 5 171303394 UCEC G C IntronicSNV . c.374-343C>G 5 171327447 CLL G T Missense p.A407D c.1220C>A 5 171299933 COREAD T C IntronicSNV . c.148-3596A>G 5 171341397 COREAD T C IntronicSNV . c.1626+762A>G 5 171294880 HC