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 BRCA 4 1107207 1107207 + Silent SNP T T G TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 g.chr4:1107207T>G c.46A>C c.(46-48)Agg>Cgg p.R16R CESC 4 1084614 1084614 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr4:1084614G>C c.259C>G c.(259-261)Caa>Gaa p.Q87E COAD 4 1073448 1073449 + Frame_Shift_Del DEL GA GA - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:1073448_1073449delGA c.492_493delTC c.(490-495)tctcctfs p.P165fs COAD 4 1073468 1073468 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:1073468G>A c.473C>T c.(472-474)tCg>tTg p.S158L COAD 4 1079711 1079711 + Nonsense_Mutation SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:1079711G>T c.335C>A c.(334-336)tCa>tAa p.S112* COADREAD 4 1073448 1073449 + Frame_Shift_Del DEL GA GA - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:1073448_1073449delGA c.492_493delTC c.(490-495)tctcctfs p.P165fs COADREAD 4 1073468 1073468 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:1073468G>A c.473C>T c.(472-474)tCg>tTg p.S158L COADREAD 4 1075217 1075217 + Missense_Mutation SNP C C A TCGA-AG-A011-01A-01W-A00K-09 TCGA-AG-A011-10A-01W-A00K-09 g.chr4:1075217C>A c.454G>T c.(454-456)Gcc>Tcc p.A152S COADREAD 4 1079711 1079711 + Nonsense_Mutation SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:1079711G>T c.335C>A c.(334-336)tCa>tAa p.S112* KIPAN 4 1066753 1066753 + Missense_Mutation SNP T T A TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr4:1066753T>A c.803A>T c.(802-804)cAg>cTg p.Q268L KIPAN 4 1075211 1075211 + Missense_Mutation SNP C C G TCGA-B2-3924-01A-02D-1386-10 TCGA-B2-3924-11A-01D-1251-10 g.chr4:1075211C>G c.460G>C c.(460-462)Gac>Cac p.D154H KIPAN 4 1075245 1075245 + Silent SNP G G A TCGA-BP-4159-01A-02D-1366-10 TCGA-BP-4159-11A-01D-1366-10 g.chr4:1075245G>A c.426C>T c.(424-426)caC>caT p.H142H KIRC 4 1075211 1075211 + Missense_Mutation SNP C C G TCGA-B2-3924-01A-02D-1386-10 TCGA-B2-3924-11A-01D-1251-10 g.chr4:1075211C>G c.460G>C c.(460-462)Gac>Cac p.D154H KIRC 4 1075245 1075245 + Silent SNP G G A TCGA-BP-4159-01A-02D-1366-10 TCGA-BP-4159-11A-01D-1366-10 g.chr4:1075245G>A c.426C>T c.(424-426)caC>caT p.H142H KIRP 4 1066753 1066753 + Missense_Mutation SNP T T A TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr4:1066753T>A c.803A>T c.(802-804)cAg>cTg p.Q268L LIHC 4 1084625 1084625 + Splice_Site SNP A A T TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr4:1084625A>T c.248T>A c.(247-249)aTt>aAt p.I83N LIHC 4 1107222 1107222 + Missense_Mutation SNP A A T TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr4:1107222A>T c.31T>A c.(31-33)Ttc>Atc p.F11I LUAD 4 1066813 1066813 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr4:1066813G>A c.743C>T c.(742-744)aCc>aTc p.T248I LUAD 4 1073435 1073435 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr4:1073435C>A c.506G>T c.(505-507)aGa>aTa p.R169I LUAD 4 1073450 1073450 + Missense_Mutation SNP G G C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr4:1073450G>C c.491C>G c.(490-492)tCt>tGt p.S164C LUAD 4 1079701 1079701 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr4:1079701C>G c.345G>C c.(343-345)caG>caC p.Q115H PAAD 4 1066789 1066789 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:1066789T>C c.767A>G c.(766-768)tAt>tGt p.Y256C PRAD 4 1067393 1067393 + Nonsense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr4:1067393G>A c.568C>T c.(568-570)Cga>Tga p.R190* PRAD 4 1107206 1107206 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:1107206C>A c.47G>T c.(46-48)aGg>aTg p.R16M READ 4 1075217 1075217 + Missense_Mutation SNP C C A TCGA-AG-A011-01A-01W-A00K-09 TCGA-AG-A011-10A-01W-A00K-09 g.chr4:1075217C>A c.454G>T c.(454-456)Gcc>Tcc p.A152S SKCM 4 1084575 1084575 + Missense_Mutation SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr4:1084575C>T c.298G>A c.(298-300)Gaa>Aaa p.E100K SKCM 4 1090587 1090587 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr4:1090587C>T c.212G>A c.(211-213)aGt>aAt p.S71N SKCM 4 1102144 1102144 + Missense_Mutation SNP A A G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr4:1102144A>G c.158T>C c.(157-159)tTg>tCg p.L53S SKCM 4 1107151 1107151 + Silent SNP G G A TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr4:1107151G>A c.102C>T c.(100-102)ctC>ctT p.L34L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 1066905 1066905 single base substitution G A 3_prime_UTR_variant BLCA-CN 4 1066905 1066905 single base substitution G A intron_variant BLCA-CN 4 1066905 1066905 single base substitution G A missense_variant H200Y 598C>T BLCA-CN 4 1066905 1066905 single base substitution G A synonymous_variant V217V 651C>T BLCA-US 4 1107304 1107304 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 4 1107304 1107304 single base substitution A T exon_variant BLCA-US 4 1107304 1107304 single base substitution A T upstream_gene_variant BRCA-EU 4 1047139 1047139 single base substitution A G downstream_gene_variant BRCA-EU 4 1047282 1047282 single base substitution G A downstream_gene_variant BRCA-EU 4 1047527 1047527 single base substitution G C downstream_gene_variant BRCA-EU 4 1048005 1048005 single base substitution G C downstream_gene_variant BRCA-EU 4 1048415 1048415 single base substitution C A downstream_gene_variant BRCA-EU 4 1048416 1048416 single base substitution C T downstream_gene_variant BRCA-EU 4 1048417 1048417 single base substitution G A downstream_gene_variant BRCA-EU 4 1050056 1050056 single base substitution C A downstream_gene_variant BRCA-EU 4 1050056 1050056 single base substitution C A exon_variant BRCA-EU 4 1050250 1050250 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 1050250 1050250 deletion of <=200bp A - exon_variant BRCA-EU 4 1050639 1050639 single base substitution C G downstream_gene_variant BRCA-EU 4 1050639 1050639 single base substitution C G exon_variant BRCA-EU 4 1050639 1050639 single base substitution C G intron_variant BRCA-EU 4 1051140 1051140 single base substitution G A intron_variant BRCA-EU 4 1053189 1053189 single base substitution G C intron_variant BRCA-EU 4 1053189 1053189 single base substitution G C upstream_gene_variant BRCA-EU 4 1054333 1054333 single base substitution C A intron_variant BRCA-EU 4 1054333 1054333 single base substitution C A upstream_gene_variant BRCA-EU 4 1055694 1055694 single base substitution G C intron_variant BRCA-EU 4 1055694 1055694 single base substitution G C upstream_gene_variant BRCA-EU 4 1055908 1055940 deletion of <=200bp ACTCATTCTATGAGGACAGAATGAGGTCCTGAC - intron_variant BRCA-EU 4 1055908 1055940 deletion of <=200bp ACTCATTCTATGAGGACAGAATGAGGTCCTGAC - upstream_gene_variant BRCA-EU 4 1056437 1056437 single base substitution G A intron_variant BRCA-EU 4 1056437 1056437 single base substitution G A upstream_gene_variant BRCA-EU 4 1056442 1056442 single base substitution C T intron_variant BRCA-EU 4 1056442 1056442 single base substitution C T upstream_gene_variant BRCA-EU 4 1056826 1056826 single base substitution G A intron_variant BRCA-EU 4 1056826 1056826 single base substitution G A upstream_gene_variant BRCA-EU 4 1057341 1057341 single base substitution T C intron_variant BRCA-EU 4 1057588 1057588 single base substitution G T intron_variant BRCA-EU 4 1058125 1058125 single base substitution G C intron_variant BRCA-EU 4 1060617 1060617 single base substitution T G downstream_gene_variant BRCA-EU 4 1060617 1060617 single base substitution T G intron_variant BRCA-EU 4 1061097 1061097 single base substitution A G downstream_gene_variant BRCA-EU 4 1061097 1061097 single base substitution A G intron_variant BRCA-EU 4 1062275 1062275 single base substitution C T downstream_gene_variant BRCA-EU 4 1062275 1062275 single base substitution C T intron_variant BRCA-EU 4 1063869 1063869 single base substitution G T downstream_gene_variant BRCA-EU 4 1063869 1063869 single base substitution G T intron_variant BRCA-EU 4 1065203 1065203 single base substitution A C downstream_gene_variant BRCA-EU 4 1065203 1065203 single base substitution A C intron_variant BRCA-EU 4 1065528 1065528 single base substitution C A 3_prime_UTR_variant BRCA-EU 4 1065528 1065528 single base substitution C A downstream_gene_variant BRCA-EU 4 1065528 1065528 single base substitution C A intron_variant BRCA-EU 4 1065865 1065865 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 1065865 1065865 single base substitution C T downstream_gene_variant BRCA-EU 4 1065865 1065865 single base substitution C T intron_variant BRCA-EU 4 1066805 1066805 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 1066805 1066805 single base substitution T C intron_variant BRCA-EU 4 1066805 1066805 single base substitution T C missense_variant K251E 751A>G BRCA-EU 4 1066805 1066805 single base substitution T C stop_retained_variant *233* 698A>G BRCA-EU 4 1067831 1067831 single base substitution T A intron_variant BRCA-EU 4 1067831 1067831 single base substitution T A upstream_gene_variant BRCA-EU 4 1068968 1068968 single base substitution G A intron_variant BRCA-EU 4 1068968 1068968 single base substitution G A upstream_gene_variant BRCA-EU 4 1069380 1069380 single base substitution C A intron_variant BRCA-EU 4 1069380 1069380 single base substitution C A upstream_gene_variant BRCA-EU 4 1070158 1070158 single base substitution C T intron_variant BRCA-EU 4 1070158 1070158 single base substitution C T upstream_gene_variant BRCA-EU 4 1071149 1071149 single base substitution G T intron_variant BRCA-EU 4 1071149 1071149 single base substitution G T upstream_gene_variant BRCA-EU 4 1072706 1072706 single base substitution A G intron_variant BRCA-EU 4 1073921 1073921 single base substitution A C intron_variant BRCA-EU 4 1076815 1076815 single base substitution C T downstream_gene_variant BRCA-EU 4 1076815 1076815 single base substitution C T intron_variant BRCA-EU 4 1076815 1076815 single base substitution C T upstream_gene_variant BRCA-EU 4 1077108 1077108 single base substitution C T downstream_gene_variant BRCA-EU 4 1077108 1077108 single base substitution C T intron_variant BRCA-EU 4 1077108 1077108 single base substitution C T upstream_gene_variant BRCA-EU 4 1078482 1078482 single base substitution T A downstream_gene_variant BRCA-EU 4 1078482 1078482 single base substitution T A intron_variant BRCA-EU 4 1078482 1078482 single base substitution T A upstream_gene_variant BRCA-EU 4 1079341 1079341 single base substitution C A downstream_gene_variant BRCA-EU 4 1079341 1079341 single base substitution C A intron_variant BRCA-EU 4 1079341 1079341 single base substitution C A upstream_gene_variant BRCA-EU 4 1079650 1079650 single base substitution C T exon_variant BRCA-EU 4 1079650 1079650 single base substitution C T intron_variant BRCA-EU 4 1079650 1079650 single base substitution C T upstream_gene_variant BRCA-EU 4 1082311 1082311 single base substitution G A downstream_gene_variant BRCA-EU 4 1082311 1082311 single base substitution G A intron_variant BRCA-EU 4 1084248 1084248 single base substitution G A downstream_gene_variant BRCA-EU 4 1084248 1084248 single base substitution G A intron_variant BRCA-EU 4 1085054 1085054 single base substitution C G downstream_gene_variant BRCA-EU 4 1085054 1085054 single base substitution C G intron_variant BRCA-EU 4 1085396 1085396 single base substitution C T downstream_gene_variant BRCA-EU 4 1085396 1085396 single base substitution C T intron_variant BRCA-EU 4 1086289 1086289 single base substitution T G downstream_gene_variant BRCA-EU 4 1086289 1086289 single base substitution T G intron_variant BRCA-EU 4 1086938 1086938 single base substitution A G downstream_gene_variant BRCA-EU 4 1086938 1086938 single base substitution A G intron_variant BRCA-EU 4 1088092 1088092 single base substitution G A downstream_gene_variant BRCA-EU 4 1088092 1088092 single base substitution G A intron_variant BRCA-EU 4 1090364 1090364 single base substitution C T downstream_gene_variant BRCA-EU 4 1090364 1090364 single base substitution C T exon_variant BRCA-EU 4 1090364 1090364 single base substitution C T intron_variant BRCA-EU 4 1090936 1090936 single base substitution A G downstream_gene_variant BRCA-EU 4 1090936 1090936 single base substitution A G intron_variant BRCA-EU 4 1093676 1093676 single base substitution G A downstream_gene_variant BRCA-EU 4 1093676 1093676 single base substitution G A exon_variant BRCA-EU 4 1093676 1093676 single base substitution G A intron_variant BRCA-EU 4 1093676 1093676 single base substitution G A upstream_gene_variant BRCA-EU 4 1094542 1094542 single base substitution C G downstream_gene_variant BRCA-EU 4 1094542 1094542 single base substitution C G intron_variant BRCA-EU 4 1094542 1094542 single base substitution C G upstream_gene_variant BRCA-EU 4 1094863 1094863 single base substitution G C intron_variant BRCA-EU 4 1094863 1094863 single base substitution G C upstream_gene_variant BRCA-EU 4 1095348 1095348 insertion of <=200bp - A intron_variant BRCA-EU 4 1095348 1095348 insertion of <=200bp - A upstream_gene_variant BRCA-EU 4 1095877 1095877 single base substitution G A intron_variant BRCA-EU 4 1095877 1095877 single base substitution G A upstream_gene_variant BRCA-EU 4 1096013 1096013 single base substitution C T intron_variant BRCA-EU 4 1096013 1096013 single base substitution C T upstream_gene_variant BRCA-EU 4 1096657 1096657 single base substitution C T intron_variant BRCA-EU 4 1096657 1096657 single base substitution C T upstream_gene_variant BRCA-EU 4 1096721 1096721 single base substitution A T intron_variant BRCA-EU 4 1096721 1096721 single base substitution A T upstream_gene_variant BRCA-EU 4 1097678 1097678 deletion of <=200bp A - intron_variant BRCA-EU 4 1097678 1097678 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 1098698 1098698 single base substitution G A intron_variant BRCA-EU 4 1099261 1099261 single base substitution G A intron_variant BRCA-EU 4 1099362 1099362 single base substitution C A intron_variant BRCA-EU 4 1100766 1100766 single base substitution A T intron_variant BRCA-EU 4 1102562 1102562 single base substitution C T intron_variant BRCA-EU 4 1103747 1103747 single base substitution C A intron_variant BRCA-EU 4 1106048 1106048 single base substitution G A intron_variant BRCA-EU 4 1107214 1107214 single base substitution C T exon_variant BRCA-EU 4 1107214 1107214 single base substitution C T synonymous_variant P13P 39G>A BRCA-EU 4 1108741 1108741 single base substitution A T upstream_gene_variant BRCA-EU 4 1108888 1108888 single base substitution G C upstream_gene_variant BRCA-EU 4 1109548 1109548 single base substitution C A upstream_gene_variant BRCA-EU 4 1109777 1109777 single base substitution A C upstream_gene_variant BRCA-EU 4 1110247 1110247 single base substitution C T upstream_gene_variant BRCA-EU 4 1110917 1110917 single base substitution A T upstream_gene_variant BRCA-EU 4 1111262 1111262 single base substitution G C upstream_gene_variant BRCA-EU 4 1112158 1112158 single base substitution T C upstream_gene_variant BRCA-FR 4 1050478 1050478 single base substitution C T downstream_gene_variant BRCA-FR 4 1050478 1050478 single base substitution C T intron_variant BRCA-FR 4 1054299 1054299 single base substitution C T intron_variant BRCA-FR 4 1054299 1054299 single base substitution C T upstream_gene_variant BRCA-FR 4 1078327 1078327 single base substitution G A downstream_gene_variant BRCA-FR 4 1078327 1078327 single base substitution G A intron_variant BRCA-FR 4 1078327 1078327 single base substitution G A upstream_gene_variant BRCA-FR 4 1079650 1079650 single base substitution C T exon_variant BRCA-FR 4 1079650 1079650 single base substitution C T intron_variant BRCA-FR 4 1079650 1079650 single base substitution C T upstream_gene_variant BRCA-FR 4 1101479 1101479 single base substitution C A intron_variant BRCA-UK 4 1049050 1049050 single base substitution G A downstream_gene_variant BRCA-UK 4 1108741 1108741 single base substitution A T upstream_gene_variant BRCA-US 4 1094724 1094724 single base substitution A G exon_variant BRCA-US 4 1094724 1094724 single base substitution A G intron_variant BRCA-US 4 1094724 1094724 single base substitution A G upstream_gene_variant BRCA-US 4 1107207 1107207 single base substitution T G exon_variant BRCA-US 4 1107207 1107207 single base substitution T G synonymous_variant R16R 46A>C BTCA-JP 4 1050731 1050731 single base substitution C T 3_prime_UTR_variant BTCA-JP 4 1050731 1050731 single base substitution C T exon_variant BTCA-JP 4 1050731 1050731 single base substitution C T intron_variant BTCA-JP 4 1050741 1050741 single base substitution T C 3_prime_UTR_variant BTCA-JP 4 1050741 1050741 single base substitution T C exon_variant BTCA-JP 4 1050741 1050741 single base substitution T C intron_variant BTCA-JP 4 1052041 1052041 single base substitution A G intron_variant BTCA-JP 4 1084668 1084668 single base substitution G A downstream_gene_variant BTCA-JP 4 1084668 1084668 single base substitution G A intron_variant BTCA-JP 4 1087328 1087328 insertion of <=200bp - CTGCCCAGGCTGGAGCCAGCC downstream_gene_variant BTCA-JP 4 1087328 1087328 insertion of <=200bp - CTGCCCAGGCTGGAGCCAGCC inframe_insertion S241WLAPAWAA BTCA-JP 4 1087328 1087328 insertion of <=200bp - CTGCCCAGGCTGGAGCCAGCC intron_variant BTCA-JP 4 1093612 1093612 single base substitution C T downstream_gene_variant BTCA-JP 4 1093612 1093612 single base substitution C T exon_variant BTCA-JP 4 1093612 1093612 single base substitution C T intron_variant CESC-US 4 1084614 1084614 single base substitution G C 3_prime_UTR_variant CESC-US 4 1084614 1084614 single base substitution G C downstream_gene_variant CESC-US 4 1084614 1084614 single base substitution G C exon_variant CESC-US 4 1084614 1084614 single base substitution G C missense_variant Q87E 259C>G CESC-US 4 1109039 1109039 single base substitution G A upstream_gene_variant CESC-US 4 1110057 1110057 single base substitution G C upstream_gene_variant CLLE-ES 4 1055461 1055461 single base substitution C T intron_variant CLLE-ES 4 1055461 1055461 single base substitution C T upstream_gene_variant CLLE-ES 4 1061611 1061611 single base substitution G A downstream_gene_variant CLLE-ES 4 1061611 1061611 single base substitution G A intron_variant CLLE-ES 4 1087691 1087691 single base substitution G A downstream_gene_variant CLLE-ES 4 1087691 1087691 single base substitution G A intron_variant CLLE-ES 4 1087691 1087691 single base substitution G A stop_gained Q120* 358C>T CLLE-ES 4 1089061 1089061 single base substitution A G downstream_gene_variant CLLE-ES 4 1089061 1089061 single base substitution A G intron_variant CLLE-ES 4 1090381 1090381 single base substitution C T downstream_gene_variant CLLE-ES 4 1090381 1090381 single base substitution C T exon_variant CLLE-ES 4 1090381 1090381 single base substitution C T intron_variant CLLE-ES 4 1098735 1098735 single base substitution C G intron_variant CLLE-ES 4 1101917 1101917 single base substitution A T intron_variant CLLE-ES 4 1108504 1108504 single base substitution G A upstream_gene_variant COAD-US 4 1073440 1073440 single base substitution C T 3_prime_UTR_variant COAD-US 4 1073440 1073440 single base substitution C T exon_variant COAD-US 4 1073440 1073440 single base substitution C T intron_variant COAD-US 4 1073440 1073440 single base substitution C T synonymous_variant P167P 501G>A COAD-US 4 1073448 1073449 deletion of <=200bp GA - 3_prime_UTR_variant COAD-US 4 1073448 1073449 deletion of <=200bp GA - exon_variant COAD-US 4 1073448 1073449 deletion of <=200bp GA - frameshift_variant SP164 COAD-US 4 1073448 1073449 deletion of <=200bp GA - intron_variant COAD-US 4 1079711 1079711 single base substitution G T 3_prime_UTR_variant COAD-US 4 1079711 1079711 single base substitution G T exon_variant COAD-US 4 1079711 1079711 single base substitution G T stop_gained S112* 335C>A COAD-US 4 1079711 1079711 single base substitution G T upstream_gene_variant COAD-US 4 1090625 1090625 single base substitution G A downstream_gene_variant COAD-US 4 1090625 1090625 single base substitution G A splice_region_variant COCA-CN 4 1050833 1050833 single base substitution C T intron_variant COCA-CN 4 1050909 1050909 single base substitution A T intron_variant COCA-CN 4 1052078 1052078 single base substitution A T intron_variant COCA-CN 4 1052125 1052125 single base substitution T C 3_prime_UTR_variant COCA-CN 4 1052125 1052125 single base substitution T C exon_variant COCA-CN 4 1052166 1052166 single base substitution A C 3_prime_UTR_variant COCA-CN 4 1052166 1052166 single base substitution A C exon_variant COCA-CN 4 1052230 1052230 single base substitution C T intron_variant COCA-CN 4 1052230 1052230 single base substitution C T upstream_gene_variant COCA-CN 4 1066086 1066086 single base substitution G A 3_prime_UTR_variant COCA-CN 4 1066086 1066086 single base substitution G A downstream_gene_variant COCA-CN 4 1066086 1066086 single base substitution G A intron_variant COCA-CN 4 1067267 1067267 single base substitution G T intron_variant COCA-CN 4 1072673 1072673 single base substitution G A intron_variant COCA-CN 4 1075417 1075417 single base substitution T C downstream_gene_variant COCA-CN 4 1075417 1075417 single base substitution T C exon_variant COCA-CN 4 1075417 1075417 single base substitution T C intron_variant COCA-CN 4 1075417 1075417 single base substitution T C upstream_gene_variant COCA-CN 4 1087171 1087171 single base substitution G T 3_prime_UTR_variant COCA-CN 4 1087171 1087171 single base substitution G T downstream_gene_variant COCA-CN 4 1087171 1087171 single base substitution G T intron_variant COCA-CN 4 1087329 1087329 single base substitution C T downstream_gene_variant COCA-CN 4 1087329 1087329 single base substitution C T intron_variant COCA-CN 4 1087329 1087329 single base substitution C T synonymous_variant R240R 720G>A COCA-CN 4 1087338 1087338 single base substitution C T downstream_gene_variant COCA-CN 4 1087338 1087338 single base substitution C T intron_variant COCA-CN 4 1087338 1087338 single base substitution C T synonymous_variant G237G 711G>A COCA-CN 4 1087413 1087413 single base substitution C G downstream_gene_variant COCA-CN 4 1087413 1087413 single base substitution C G intron_variant COCA-CN 4 1087413 1087413 single base substitution C G missense_variant K212N 636G>C COCA-CN 4 1087697 1087697 single base substitution C A downstream_gene_variant COCA-CN 4 1087697 1087697 single base substitution C A intron_variant COCA-CN 4 1087697 1087697 single base substitution C A missense_variant D118Y 352G>T COCA-CN 4 1090485 1090485 single base substitution T C downstream_gene_variant COCA-CN 4 1090485 1090485 single base substitution T C exon_variant COCA-CN 4 1090485 1090485 single base substitution T C intron_variant COCA-CN 4 1094670 1094670 single base substitution T C downstream_gene_variant COCA-CN 4 1094670 1094670 single base substitution T C intron_variant COCA-CN 4 1094670 1094670 single base substitution T C upstream_gene_variant COCA-CN 4 1102195 1102195 single base substitution A G intron_variant COCA-CN 4 1102195 1102195 single base substitution A G splice_region_variant EOPC-DE 4 1047297 1047297 single base substitution T C downstream_gene_variant EOPC-DE 4 1049717 1049717 single base substitution G A downstream_gene_variant EOPC-DE 4 1053673 1053673 single base substitution G C intron_variant EOPC-DE 4 1053673 1053673 single base substitution G C upstream_gene_variant EOPC-DE 4 1058866 1058866 single base substitution G C intron_variant EOPC-DE 4 1088872 1088872 single base substitution G A downstream_gene_variant EOPC-DE 4 1088872 1088872 single base substitution G A intron_variant EOPC-DE 4 1088886 1088886 single base substitution T C downstream_gene_variant EOPC-DE 4 1088886 1088886 single base substitution T C intron_variant EOPC-DE 4 1093462 1093462 single base substitution G A downstream_gene_variant EOPC-DE 4 1093462 1093462 single base substitution G A intron_variant ESAD-UK 4 1045605 1045605 single base substitution G A downstream_gene_variant ESAD-UK 4 1045610 1045610 single base substitution A T downstream_gene_variant ESAD-UK 4 1046583 1046583 single base substitution G A downstream_gene_variant ESAD-UK 4 1050015 1050015 single base substitution A C downstream_gene_variant ESAD-UK 4 1050022 1050022 single base substitution C T downstream_gene_variant ESAD-UK 4 1056613 1056613 insertion of <=200bp - A intron_variant ESAD-UK 4 1056613 1056613 insertion of <=200bp - A upstream_gene_variant ESAD-UK 4 1057822 1057822 single base substitution G T intron_variant ESAD-UK 4 1060087 1060087 single base substitution T C intron_variant ESAD-UK 4 1060904 1060904 single base substitution T G downstream_gene_variant ESAD-UK 4 1060904 1060904 single base substitution T G intron_variant ESAD-UK 4 1061074 1061074 single base substitution C T downstream_gene_variant ESAD-UK 4 1061074 1061074 single base substitution C T intron_variant ESAD-UK 4 1062296 1062296 single base substitution T A downstream_gene_variant ESAD-UK 4 1062296 1062296 single base substitution T A intron_variant ESAD-UK 4 1063514 1063514 single base substitution C T downstream_gene_variant ESAD-UK 4 1063514 1063514 single base substitution C T intron_variant ESAD-UK 4 1064034 1064034 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 1064034 1064034 deletion of <=200bp T - intron_variant ESAD-UK 4 1064992 1064992 single base substitution T A downstream_gene_variant ESAD-UK 4 1064992 1064992 single base substitution T A intron_variant ESAD-UK 4 1067732 1067732 single base substitution T A intron_variant ESAD-UK 4 1067732 1067732 single base substitution T A upstream_gene_variant ESAD-UK 4 1067734 1067734 single base substitution A G intron_variant ESAD-UK 4 1067734 1067734 single base substitution A G upstream_gene_variant ESAD-UK 4 1071580 1071580 single base substitution G T intron_variant ESAD-UK 4 1071580 1071580 single base substitution G T upstream_gene_variant ESAD-UK 4 1072243 1072243 single base substitution G A intron_variant ESAD-UK 4 1072243 1072243 single base substitution G A upstream_gene_variant ESAD-UK 4 1073129 1073129 single base substitution G A intron_variant ESAD-UK 4 1074298 1074298 single base substitution G A intron_variant ESAD-UK 4 1074366 1074366 single base substitution C T intron_variant ESAD-UK 4 1074966 1074966 single base substitution C G downstream_gene_variant ESAD-UK 4 1074966 1074966 single base substitution C G intron_variant ESAD-UK 4 1076760 1076760 single base substitution G A downstream_gene_variant ESAD-UK 4 1076760 1076760 single base substitution G A intron_variant ESAD-UK 4 1076760 1076760 single base substitution G A upstream_gene_variant ESAD-UK 4 1079291 1079291 single base substitution C T downstream_gene_variant ESAD-UK 4 1079291 1079291 single base substitution C T intron_variant ESAD-UK 4 1079291 1079291 single base substitution C T upstream_gene_variant ESAD-UK 4 1079922 1079922 insertion of <=200bp - G intron_variant ESAD-UK 4 1079922 1079922 insertion of <=200bp - G upstream_gene_variant ESAD-UK 4 1083354 1083354 single base substitution T C downstream_gene_variant ESAD-UK 4 1083354 1083354 single base substitution T C intron_variant ESAD-UK 4 1084588 1084588 single base substitution T C 3_prime_UTR_variant ESAD-UK 4 1084588 1084588 single base substitution T C downstream_gene_variant ESAD-UK 4 1084588 1084588 single base substitution T C exon_variant ESAD-UK 4 1084588 1084588 single base substitution T C synonymous_variant L95L 285A>G ESAD-UK 4 1086553 1086553 single base substitution C T downstream_gene_variant ESAD-UK 4 1086553 1086553 single base substitution C T intron_variant ESAD-UK 4 1087667 1087667 single base substitution G A downstream_gene_variant ESAD-UK 4 1087667 1087667 single base substitution G A intron_variant ESAD-UK 4 1087667 1087667 single base substitution G A missense_variant R128W 382C>T ESAD-UK 4 1097678 1097678 deletion of <=200bp A - intron_variant ESAD-UK 4 1097678 1097678 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 1099754 1099754 single base substitution C T intron_variant ESAD-UK 4 1105759 1105759 single base substitution A G intron_variant ESAD-UK 4 1105820 1105820 single base substitution C A intron_variant ESAD-UK 4 1106176 1106176 single base substitution G T intron_variant ESCA-CN 4 1084723 1084723 single base substitution G C downstream_gene_variant ESCA-CN 4 1084723 1084723 single base substitution G C intron_variant ESCA-CN 4 1107024 1107024 single base substitution T C intron_variant ESCA-CN 4 1107065 1107068 deletion of <=200bp AAGT - intron_variant ESCA-CN 4 1107115 1107115 single base substitution T C intron_variant KIRC-US 4 1075211 1075211 single base substitution C G 3_prime_UTR_variant KIRC-US 4 1075211 1075211 single base substitution C G downstream_gene_variant KIRC-US 4 1075211 1075211 single base substitution C G intron_variant KIRC-US 4 1075211 1075211 single base substitution C G missense_variant D154H 460G>C KIRC-US 4 1075245 1075245 single base substitution G A 3_prime_UTR_variant KIRC-US 4 1075245 1075245 single base substitution G A downstream_gene_variant KIRC-US 4 1075245 1075245 single base substitution G A intron_variant KIRC-US 4 1075245 1075245 single base substitution G A synonymous_variant H142H 426C>T LAML-KR 4 1047512 1047512 single base substitution A C downstream_gene_variant LAML-KR 4 1047532 1047532 single base substitution C A downstream_gene_variant LAML-KR 4 1047856 1047856 single base substitution G A downstream_gene_variant LAML-KR 4 1048262 1048262 single base substitution C T downstream_gene_variant LAML-KR 4 1048385 1048385 single base substitution A C downstream_gene_variant LAML-KR 4 1048981 1048981 single base substitution G A downstream_gene_variant LAML-KR 4 1049004 1049004 single base substitution G A downstream_gene_variant LAML-KR 4 1049107 1049107 single base substitution G A downstream_gene_variant LAML-KR 4 1063931 1063931 single base substitution C T downstream_gene_variant LAML-KR 4 1063931 1063931 single base substitution C T intron_variant LAML-KR 4 1064275 1064275 single base substitution G A downstream_gene_variant LAML-KR 4 1064275 1064275 single base substitution G A intron_variant LAML-KR 4 1064381 1064381 single base substitution A G downstream_gene_variant LAML-KR 4 1064381 1064381 single base substitution A G intron_variant LAML-KR 4 1072673 1072673 single base substitution G A intron_variant LAML-KR 4 1072711 1072711 single base substitution G A intron_variant LAML-KR 4 1073019 1073019 single base substitution G A intron_variant LAML-KR 4 1073052 1073052 single base substitution G A intron_variant LAML-KR 4 1073075 1073075 single base substitution A G intron_variant LAML-KR 4 1087265 1087265 single base substitution T C downstream_gene_variant LAML-KR 4 1087265 1087265 single base substitution T C intron_variant LAML-KR 4 1087265 1087265 single base substitution T C missense_variant I262V 784A>G LAML-KR 4 1087338 1087338 single base substitution C T downstream_gene_variant LAML-KR 4 1087338 1087338 single base substitution C T intron_variant LAML-KR 4 1087338 1087338 single base substitution C T synonymous_variant G237G 711G>A LAML-KR 4 1089049 1089049 single base substitution G A downstream_gene_variant LAML-KR 4 1089049 1089049 single base substitution G A intron_variant LAML-KR 4 1089077 1089077 single base substitution T C downstream_gene_variant LAML-KR 4 1089077 1089077 single base substitution T C intron_variant LAML-KR 4 1089084 1089084 single base substitution G A downstream_gene_variant LAML-KR 4 1089084 1089084 single base substitution G A intron_variant LAML-KR 4 1089167 1089167 single base substitution A G downstream_gene_variant LAML-KR 4 1089167 1089167 single base substitution A G intron_variant LAML-KR 4 1089180 1089180 single base substitution A C downstream_gene_variant LAML-KR 4 1089180 1089180 single base substitution A C intron_variant LAML-KR 4 1089182 1089182 single base substitution T C downstream_gene_variant LAML-KR 4 1089182 1089182 single base substitution T C intron_variant LAML-KR 4 1089195 1089195 single base substitution T C downstream_gene_variant LAML-KR 4 1089195 1089195 single base substitution T C intron_variant LAML-KR 4 1089254 1089254 single base substitution C T downstream_gene_variant LAML-KR 4 1089254 1089254 single base substitution C T intron_variant LAML-KR 4 1089403 1089403 single base substitution A G downstream_gene_variant LAML-KR 4 1089403 1089403 single base substitution A G intron_variant LAML-KR 4 1089431 1089431 single base substitution T C downstream_gene_variant LAML-KR 4 1089431 1089431 single base substitution T C intron_variant LAML-KR 4 1089475 1089475 single base substitution C A downstream_gene_variant LAML-KR 4 1089475 1089475 single base substitution C A intron_variant LAML-KR 4 1089504 1089504 single base substitution C T downstream_gene_variant LAML-KR 4 1089504 1089504 single base substitution C T intron_variant LAML-KR 4 1089608 1089608 single base substitution T C downstream_gene_variant LAML-KR 4 1089608 1089608 single base substitution T C intron_variant LAML-KR 4 1089740 1089740 single base substitution C T downstream_gene_variant LAML-KR 4 1089740 1089740 single base substitution C T intron_variant LAML-KR 4 1089903 1089903 single base substitution C T downstream_gene_variant LAML-KR 4 1089903 1089903 single base substitution C T intron_variant LAML-KR 4 1089962 1089962 single base substitution C T downstream_gene_variant LAML-KR 4 1089962 1089962 single base substitution C T intron_variant LAML-KR 4 1090347 1090347 single base substitution A G downstream_gene_variant LAML-KR 4 1090347 1090347 single base substitution A G exon_variant LAML-KR 4 1090347 1090347 single base substitution A G intron_variant LAML-KR 4 1090625 1090625 single base substitution G A downstream_gene_variant LAML-KR 4 1090625 1090625 single base substitution G A splice_region_variant LICA-FR 4 1047485 1047485 insertion of <=200bp - GAGGGGACAGTCAGCTCCCG downstream_gene_variant LICA-FR 4 1047593 1047612 deletion of <=200bp AGTCAGCTCCCGGAGGGGAA - downstream_gene_variant LICA-FR 4 1047627 1047627 single base substitution G C downstream_gene_variant LICA-FR 4 1086294 1086294 single base substitution T A downstream_gene_variant LICA-FR 4 1086294 1086294 single base substitution T A intron_variant LICA-FR 4 1087330 1087330 insertion of <=200bp - GTGCTGCCCAGGCTGGAGCCAGCCAT downstream_gene_variant LICA-FR 4 1087330 1087330 insertion of <=200bp - GTGCTGCCCAGGCTGGAGCCAGCCAT frameshift_variant R240RWLAPAWAA? LICA-FR 4 1087330 1087330 insertion of <=200bp - GTGCTGCCCAGGCTGGAGCCAGCCAT intron_variant LICA-FR 4 1087392 1087392 single base substitution G A downstream_gene_variant LICA-FR 4 1087392 1087392 single base substitution G A intron_variant LICA-FR 4 1087392 1087392 single base substitution G A synonymous_variant A219A 657C>T LICA-FR 4 1089061 1089061 single base substitution A G downstream_gene_variant LICA-FR 4 1089061 1089061 single base substitution A G intron_variant LICA-FR 4 1090316 1090316 single base substitution C T downstream_gene_variant LICA-FR 4 1090316 1090316 single base substitution C T exon_variant LICA-FR 4 1090316 1090316 single base substitution C T intron_variant LICA-FR 4 1090360 1090360 single base substitution A C downstream_gene_variant LICA-FR 4 1090360 1090360 single base substitution A C exon_variant LICA-FR 4 1090360 1090360 single base substitution A C intron_variant LICA-FR 4 1090837 1090837 single base substitution G T downstream_gene_variant LICA-FR 4 1090837 1090837 single base substitution G T intron_variant LIHC-US 4 1084625 1084625 single base substitution A T downstream_gene_variant LIHC-US 4 1084625 1084625 single base substitution A T missense_variant I83N 248T>A LIHC-US 4 1084625 1084625 single base substitution A T splice_region_variant LIHC-US 4 1107222 1107222 single base substitution A T exon_variant LIHC-US 4 1107222 1107222 single base substitution A T missense_variant F11I 31T>A LINC-JP 4 1050223 1050223 single base substitution T C downstream_gene_variant LINC-JP 4 1050223 1050223 single base substitution T C exon_variant LINC-JP 4 1052008 1052008 single base substitution A G intron_variant LINC-JP 4 1052041 1052041 single base substitution A G intron_variant LINC-JP 4 1052282 1052282 single base substitution T C intron_variant LINC-JP 4 1052282 1052282 single base substitution T C upstream_gene_variant LINC-JP 4 1056448 1056448 single base substitution G A intron_variant LINC-JP 4 1056448 1056448 single base substitution G A upstream_gene_variant LINC-JP 4 1073348 1073348 single base substitution G A intron_variant LINC-JP 4 1081236 1081236 single base substitution G T intron_variant LINC-JP 4 1084307 1084307 single base substitution G A downstream_gene_variant LINC-JP 4 1084307 1084307 single base substitution G A intron_variant LINC-JP 4 1084567 1084567 single base substitution T A downstream_gene_variant LINC-JP 4 1084567 1084567 single base substitution T A splice_region_variant LINC-JP 4 1087328 1087328 insertion of <=200bp - CTGCCCAGGCTGGAGCCAGCC downstream_gene_variant LINC-JP 4 1087328 1087328 insertion of <=200bp - CTGCCCAGGCTGGAGCCAGCC inframe_insertion S241WLAPAWAA LINC-JP 4 1087328 1087328 insertion of <=200bp - CTGCCCAGGCTGGAGCCAGCC intron_variant LINC-JP 4 1087880 1087880 single base substitution C T downstream_gene_variant LINC-JP 4 1087880 1087880 single base substitution C T intron_variant LINC-JP 4 1089167 1089167 single base substitution A G downstream_gene_variant LINC-JP 4 1089167 1089167 single base substitution A G intron_variant LINC-JP 4 1090347 1090347 single base substitution A G downstream_gene_variant LINC-JP 4 1090347 1090347 single base substitution A G exon_variant LINC-JP 4 1090347 1090347 single base substitution A G intron_variant LINC-JP 4 1090407 1090407 single base substitution G T downstream_gene_variant LINC-JP 4 1090407 1090407 single base substitution G T exon_variant LINC-JP 4 1090407 1090407 single base substitution G T intron_variant LINC-JP 4 1090836 1090836 single base substitution C A downstream_gene_variant LINC-JP 4 1090836 1090836 single base substitution C A intron_variant LINC-JP 4 1093452 1093452 single base substitution G A downstream_gene_variant LINC-JP 4 1093452 1093452 single base substitution G A intron_variant LINC-JP 4 1093518 1093518 single base substitution C T 3_prime_UTR_variant LINC-JP 4 1093518 1093518 single base substitution C T downstream_gene_variant LINC-JP 4 1093518 1093518 single base substitution C T exon_variant LINC-JP 4 1093518 1093518 single base substitution C T intron_variant LIRI-JP 4 1051077 1051077 single base substitution T A intron_variant LIRI-JP 4 1054418 1054418 single base substitution T C intron_variant LIRI-JP 4 1054418 1054418 single base substitution T C upstream_gene_variant LIRI-JP 4 1054619 1054619 single base substitution G T intron_variant LIRI-JP 4 1054619 1054619 single base substitution G T upstream_gene_variant LIRI-JP 4 1055747 1055747 single base substitution C T intron_variant LIRI-JP 4 1055747 1055747 single base substitution C T upstream_gene_variant LIRI-JP 4 1056942 1056942 single base substitution T C intron_variant LIRI-JP 4 1056942 1056942 single base substitution T C upstream_gene_variant LIRI-JP 4 1057017 1057017 single base substitution C T intron_variant LIRI-JP 4 1057017 1057017 single base substitution C T upstream_gene_variant LIRI-JP 4 1057751 1057751 single base substitution A T intron_variant LIRI-JP 4 1057906 1057906 single base substitution T C intron_variant LIRI-JP 4 1058646 1058646 single base substitution C T intron_variant LIRI-JP 4 1062330 1062330 single base substitution C G downstream_gene_variant LIRI-JP 4 1062330 1062330 single base substitution C G intron_variant LIRI-JP 4 1063632 1063632 single base substitution G A downstream_gene_variant LIRI-JP 4 1063632 1063632 single base substitution G A intron_variant LIRI-JP 4 1066199 1066199 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 1066199 1066199 single base substitution A G downstream_gene_variant LIRI-JP 4 1066199 1066199 single base substitution A G intron_variant LIRI-JP 4 1067783 1067783 single base substitution T C intron_variant LIRI-JP 4 1067783 1067783 single base substitution T C upstream_gene_variant LIRI-JP 4 1069152 1069152 single base substitution A T intron_variant LIRI-JP 4 1069152 1069152 single base substitution A T upstream_gene_variant LIRI-JP 4 1069384 1069384 single base substitution G A intron_variant LIRI-JP 4 1069384 1069384 single base substitution G A upstream_gene_variant LIRI-JP 4 1073989 1073989 single base substitution G T intron_variant LIRI-JP 4 1075125 1075125 single base substitution G C downstream_gene_variant LIRI-JP 4 1075125 1075125 single base substitution G C intron_variant LIRI-JP 4 1078402 1078402 single base substitution C T downstream_gene_variant LIRI-JP 4 1078402 1078402 single base substitution C T intron_variant LIRI-JP 4 1078402 1078402 single base substitution C T upstream_gene_variant LIRI-JP 4 1085355 1085355 single base substitution T C downstream_gene_variant LIRI-JP 4 1085355 1085355 single base substitution T C intron_variant LIRI-JP 4 1086778 1086827 deletion of <=200bp CAGGGTCTGCGTGCTCAGTGCTGACGCAGCCTGTGGTAGGGCAGAGGCTG - downstream_gene_variant LIRI-JP 4 1086778 1086827 deletion of <=200bp CAGGGTCTGCGTGCTCAGTGCTGACGCAGCCTGTGGTAGGGCAGAGGCTG - intron_variant LIRI-JP 4 1086929 1086929 single base substitution G A downstream_gene_variant LIRI-JP 4 1086929 1086929 single base substitution G A intron_variant LIRI-JP 4 1088087 1088087 single base substitution C T downstream_gene_variant LIRI-JP 4 1088087 1088087 single base substitution C T intron_variant LIRI-JP 4 1093201 1093201 single base substitution G C downstream_gene_variant LIRI-JP 4 1093201 1093201 single base substitution G C intron_variant LIRI-JP 4 1094768 1094768 single base substitution T A exon_variant LIRI-JP 4 1094768 1094768 single base substitution T A intron_variant LIRI-JP 4 1094768 1094768 single base substitution T A upstream_gene_variant LIRI-JP 4 1094962 1094962 single base substitution C T intron_variant LIRI-JP 4 1094962 1094962 single base substitution C T upstream_gene_variant LIRI-JP 4 1098197 1098197 single base substitution C G intron_variant LIRI-JP 4 1098197 1098197 single base substitution C G upstream_gene_variant LIRI-JP 4 1099861 1099861 single base substitution G T intron_variant LIRI-JP 4 1099959 1099959 single base substitution A T intron_variant LIRI-JP 4 1100443 1100443 single base substitution C A intron_variant LIRI-JP 4 1102149 1102149 single base substitution T C exon_variant LIRI-JP 4 1102149 1102149 single base substitution T C intron_variant LIRI-JP 4 1102149 1102149 single base substitution T C synonymous_variant T51T 153A>G LIRI-JP 4 1102184 1102184 single base substitution T G exon_variant LIRI-JP 4 1102184 1102184 single base substitution T G intron_variant LIRI-JP 4 1102184 1102184 single base substitution T G missense_variant N40H 118A>C LIRI-JP 4 1103209 1103209 single base substitution T C intron_variant LIRI-JP 4 1104901 1104901 single base substitution T C intron_variant LIRI-JP 4 1105973 1105973 single base substitution C T intron_variant LIRI-JP 4 1109270 1109270 single base substitution G A upstream_gene_variant LIRI-JP 4 1111890 1111890 single base substitution T C upstream_gene_variant LUSC-KR 4 1046560 1046560 single base substitution T C downstream_gene_variant LUSC-KR 4 1047532 1047532 single base substitution C A downstream_gene_variant LUSC-KR 4 1048780 1048780 single base substitution C T downstream_gene_variant LUSC-KR 4 1048981 1048981 single base substitution G A downstream_gene_variant LUSC-KR 4 1049189 1049189 single base substitution T C downstream_gene_variant LUSC-KR 4 1049211 1049211 single base substitution G T downstream_gene_variant LUSC-KR 4 1055132 1055132 single base substitution G T intron_variant LUSC-KR 4 1055132 1055132 single base substitution G T upstream_gene_variant LUSC-KR 4 1057628 1057628 single base substitution C A intron_variant LUSC-KR 4 1061648 1061648 single base substitution T A downstream_gene_variant LUSC-KR 4 1061648 1061648 single base substitution T A intron_variant LUSC-KR 4 1063884 1063884 single base substitution A G downstream_gene_variant LUSC-KR 4 1063884 1063884 single base substitution A G intron_variant LUSC-KR 4 1064361 1064361 single base substitution A G downstream_gene_variant LUSC-KR 4 1064361 1064361 single base substitution A G intron_variant LUSC-KR 4 1065231 1065231 single base substitution C G downstream_gene_variant LUSC-KR 4 1065231 1065231 single base substitution C G intron_variant LUSC-KR 4 1067239 1067239 single base substitution T A intron_variant LUSC-KR 4 1067249 1067249 single base substitution T C intron_variant LUSC-KR 4 1067267 1067267 single base substitution G T intron_variant LUSC-KR 4 1072887 1072887 single base substitution A G intron_variant LUSC-KR 4 1073000 1073000 single base substitution G T intron_variant LUSC-KR 4 1073019 1073019 single base substitution G A intron_variant LUSC-KR 4 1075271 1075271 single base substitution C T downstream_gene_variant LUSC-KR 4 1075271 1075271 single base substitution C T intron_variant LUSC-KR 4 1076826 1076826 single base substitution G A downstream_gene_variant LUSC-KR 4 1076826 1076826 single base substitution G A intron_variant LUSC-KR 4 1076826 1076826 single base substitution G A upstream_gene_variant LUSC-KR 4 1086770 1086770 single base substitution G T downstream_gene_variant LUSC-KR 4 1086770 1086770 single base substitution G T intron_variant LUSC-KR 4 1088348 1088348 single base substitution A T downstream_gene_variant LUSC-KR 4 1088348 1088348 single base substitution A T intron_variant LUSC-KR 4 1088798 1088798 single base substitution A G downstream_gene_variant LUSC-KR 4 1088798 1088798 single base substitution A G intron_variant LUSC-KR 4 1089049 1089049 single base substitution G A downstream_gene_variant LUSC-KR 4 1089049 1089049 single base substitution G A intron_variant LUSC-KR 4 1089145 1089145 single base substitution C G downstream_gene_variant LUSC-KR 4 1089145 1089145 single base substitution C G intron_variant LUSC-KR 4 1089254 1089254 single base substitution C T downstream_gene_variant LUSC-KR 4 1089254 1089254 single base substitution C T intron_variant LUSC-KR 4 1089403 1089403 single base substitution A G downstream_gene_variant LUSC-KR 4 1089403 1089403 single base substitution A G intron_variant LUSC-KR 4 1089475 1089475 single base substitution C A downstream_gene_variant LUSC-KR 4 1089475 1089475 single base substitution C A intron_variant LUSC-KR 4 1089477 1089477 single base substitution T C downstream_gene_variant LUSC-KR 4 1089477 1089477 single base substitution T C intron_variant LUSC-KR 4 1089770 1089770 single base substitution A C downstream_gene_variant LUSC-KR 4 1089770 1089770 single base substitution A C intron_variant LUSC-KR 4 1089888 1089888 single base substitution C T downstream_gene_variant LUSC-KR 4 1089888 1089888 single base substitution C T intron_variant LUSC-KR 4 1090257 1090257 single base substitution C T downstream_gene_variant LUSC-KR 4 1090257 1090257 single base substitution C T exon_variant LUSC-KR 4 1090257 1090257 single base substitution C T intron_variant LUSC-KR 4 1090264 1090264 single base substitution G A downstream_gene_variant LUSC-KR 4 1090264 1090264 single base substitution G A exon_variant LUSC-KR 4 1090264 1090264 single base substitution G A intron_variant LUSC-KR 4 1090323 1090323 single base substitution A G downstream_gene_variant LUSC-KR 4 1090323 1090323 single base substitution A G exon_variant LUSC-KR 4 1090323 1090323 single base substitution A G intron_variant LUSC-KR 4 1090421 1090421 single base substitution C T downstream_gene_variant LUSC-KR 4 1090421 1090421 single base substitution C T exon_variant LUSC-KR 4 1090421 1090421 single base substitution C T intron_variant LUSC-KR 4 1090625 1090625 single base substitution G A downstream_gene_variant LUSC-KR 4 1090625 1090625 single base substitution G A splice_region_variant LUSC-KR 4 1095281 1095281 single base substitution A G intron_variant LUSC-KR 4 1095281 1095281 single base substitution A G upstream_gene_variant LUSC-KR 4 1096275 1096275 single base substitution C G intron_variant LUSC-KR 4 1096275 1096275 single base substitution C G upstream_gene_variant LUSC-KR 4 1103037 1103037 single base substitution C T intron_variant LUSC-KR 4 1105501 1105501 single base substitution G T intron_variant MALY-DE 4 1047314 1047333 deletion of <=200bp AGTCAGCTCCCGGAGGGGAG - downstream_gene_variant MALY-DE 4 1049065 1049065 insertion of <=200bp - GCA downstream_gene_variant MALY-DE 4 1050667 1050667 single base substitution G A downstream_gene_variant MALY-DE 4 1050667 1050667 single base substitution G A exon_variant MALY-DE 4 1050667 1050667 single base substitution G A intron_variant MALY-DE 4 1063847 1063847 single base substitution G A downstream_gene_variant MALY-DE 4 1063847 1063847 single base substitution G A intron_variant MALY-DE 4 1063957 1063957 single base substitution A G downstream_gene_variant MALY-DE 4 1063957 1063957 single base substitution A G intron_variant MALY-DE 4 1077015 1077015 single base substitution A G downstream_gene_variant MALY-DE 4 1077015 1077015 single base substitution A G intron_variant MALY-DE 4 1077015 1077015 single base substitution A G upstream_gene_variant MALY-DE 4 1077891 1077891 single base substitution C T downstream_gene_variant MALY-DE 4 1077891 1077891 single base substitution C T intron_variant MALY-DE 4 1077891 1077891 single base substitution C T upstream_gene_variant MALY-DE 4 1090480 1090480 single base substitution C A downstream_gene_variant MALY-DE 4 1090480 1090480 single base substitution C A exon_variant MALY-DE 4 1090480 1090480 single base substitution C A intron_variant MALY-DE 4 1100520 1100520 single base substitution G A intron_variant MALY-DE 4 1100743 1100743 single base substitution C T intron_variant MALY-DE 4 1108332 1108332 single base substitution T G upstream_gene_variant MALY-DE 4 1108989 1108989 single base substitution G A upstream_gene_variant MALY-DE 4 1110783 1110783 single base substitution C T upstream_gene_variant MELA-AU 4 1045078 1045078 single base substitution C T downstream_gene_variant MELA-AU 4 1045159 1045159 single base substitution C T downstream_gene_variant MELA-AU 4 1045808 1045808 single base substitution C T downstream_gene_variant MELA-AU 4 1046393 1046393 single base substitution C T downstream_gene_variant MELA-AU 4 1046449 1046449 single base substitution G A downstream_gene_variant MELA-AU 4 1046755 1046755 single base substitution G A downstream_gene_variant MELA-AU 4 1048334 1048334 single base substitution C T downstream_gene_variant MELA-AU 4 1048343 1048343 single base substitution G A downstream_gene_variant MELA-AU 4 1048370 1048370 single base substitution A G downstream_gene_variant MELA-AU 4 1049105 1049105 single base substitution G A downstream_gene_variant MELA-AU 4 1049108 1049108 single base substitution G A downstream_gene_variant MELA-AU 4 1049443 1049443 single base substitution C T downstream_gene_variant MELA-AU 4 1049735 1049735 single base substitution G A downstream_gene_variant MELA-AU 4 1049848 1049848 single base substitution C T downstream_gene_variant MELA-AU 4 1049908 1049908 single base substitution C T downstream_gene_variant MELA-AU 4 1050716 1050716 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1050716 1050716 single base substitution C T exon_variant MELA-AU 4 1050716 1050716 single base substitution C T intron_variant MELA-AU 4 1050721 1050721 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1050721 1050721 single base substitution C T exon_variant MELA-AU 4 1050721 1050721 single base substitution C T intron_variant MELA-AU 4 1050743 1050743 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1050743 1050743 single base substitution G A exon_variant MELA-AU 4 1050743 1050743 single base substitution G A intron_variant MELA-AU 4 1050876 1050876 single base substitution T C intron_variant MELA-AU 4 1051019 1051020 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 1051170 1051170 single base substitution C T intron_variant MELA-AU 4 1052036 1052036 single base substitution G A intron_variant MELA-AU 4 1052119 1052119 single base substitution T A 3_prime_UTR_variant MELA-AU 4 1052119 1052119 single base substitution T A exon_variant MELA-AU 4 1052515 1052515 single base substitution G A intron_variant MELA-AU 4 1052515 1052515 single base substitution G A upstream_gene_variant MELA-AU 4 1052775 1052776 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1052775 1052776 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 1052848 1052848 single base substitution G A intron_variant MELA-AU 4 1052848 1052848 single base substitution G A upstream_gene_variant MELA-AU 4 1052852 1052852 single base substitution G A intron_variant MELA-AU 4 1052852 1052852 single base substitution G A upstream_gene_variant MELA-AU 4 1052879 1052879 single base substitution G A intron_variant MELA-AU 4 1052879 1052879 single base substitution G A upstream_gene_variant MELA-AU 4 1053230 1053230 single base substitution G A intron_variant MELA-AU 4 1053230 1053230 single base substitution G A upstream_gene_variant MELA-AU 4 1053231 1053231 single base substitution G A intron_variant MELA-AU 4 1053231 1053231 single base substitution G A upstream_gene_variant MELA-AU 4 1053333 1053333 single base substitution G A intron_variant MELA-AU 4 1053333 1053333 single base substitution G A upstream_gene_variant MELA-AU 4 1053404 1053404 single base substitution C T intron_variant MELA-AU 4 1053404 1053404 single base substitution C T upstream_gene_variant MELA-AU 4 1053443 1053443 single base substitution C T intron_variant MELA-AU 4 1053443 1053443 single base substitution C T upstream_gene_variant MELA-AU 4 1053659 1053659 single base substitution G A intron_variant MELA-AU 4 1053659 1053659 single base substitution G A upstream_gene_variant MELA-AU 4 1054076 1054076 single base substitution G A intron_variant MELA-AU 4 1054076 1054076 single base substitution G A upstream_gene_variant MELA-AU 4 1054537 1054537 single base substitution G A intron_variant MELA-AU 4 1054537 1054537 single base substitution G A upstream_gene_variant MELA-AU 4 1054572 1054572 single base substitution C T intron_variant MELA-AU 4 1054572 1054572 single base substitution C T upstream_gene_variant MELA-AU 4 1054904 1054904 single base substitution G A intron_variant MELA-AU 4 1054904 1054904 single base substitution G A upstream_gene_variant MELA-AU 4 1055196 1055196 single base substitution G A intron_variant MELA-AU 4 1055196 1055196 single base substitution G A upstream_gene_variant MELA-AU 4 1055218 1055218 single base substitution G A intron_variant MELA-AU 4 1055218 1055218 single base substitution G A upstream_gene_variant MELA-AU 4 1055305 1055305 single base substitution C T intron_variant MELA-AU 4 1055305 1055305 single base substitution C T upstream_gene_variant MELA-AU 4 1055549 1055549 single base substitution C T intron_variant MELA-AU 4 1055549 1055549 single base substitution C T upstream_gene_variant MELA-AU 4 1055884 1055884 single base substitution G A intron_variant MELA-AU 4 1055884 1055884 single base substitution G A upstream_gene_variant MELA-AU 4 1056217 1056217 single base substitution G A intron_variant MELA-AU 4 1056217 1056217 single base substitution G A upstream_gene_variant MELA-AU 4 1056338 1056338 single base substitution G A intron_variant MELA-AU 4 1056338 1056338 single base substitution G A upstream_gene_variant MELA-AU 4 1056387 1056387 single base substitution G A intron_variant MELA-AU 4 1056387 1056387 single base substitution G A upstream_gene_variant MELA-AU 4 1056472 1056472 single base substitution T A intron_variant MELA-AU 4 1056472 1056472 single base substitution T A upstream_gene_variant MELA-AU 4 1056833 1056833 single base substitution G A intron_variant MELA-AU 4 1056833 1056833 single base substitution G A upstream_gene_variant MELA-AU 4 1057212 1057212 single base substitution G A intron_variant MELA-AU 4 1057212 1057212 single base substitution G A upstream_gene_variant MELA-AU 4 1057247 1057247 single base substitution C T intron_variant MELA-AU 4 1057557 1057557 single base substitution G A intron_variant MELA-AU 4 1057665 1057665 single base substitution A T intron_variant MELA-AU 4 1057811 1057811 single base substitution A G intron_variant MELA-AU 4 1057993 1057993 single base substitution C T intron_variant MELA-AU 4 1058374 1058374 single base substitution T G intron_variant MELA-AU 4 1058448 1058448 single base substitution T G intron_variant MELA-AU 4 1058582 1058582 single base substitution A G intron_variant MELA-AU 4 1058584 1058584 single base substitution G A intron_variant MELA-AU 4 1058592 1058592 single base substitution C T intron_variant MELA-AU 4 1058894 1058894 single base substitution T C intron_variant MELA-AU 4 1058961 1058961 single base substitution G A intron_variant MELA-AU 4 1059104 1059104 single base substitution G A intron_variant MELA-AU 4 1059193 1059193 single base substitution C T intron_variant MELA-AU 4 1059464 1059464 single base substitution C T intron_variant MELA-AU 4 1059483 1059483 single base substitution C T intron_variant MELA-AU 4 1059631 1059631 single base substitution C T intron_variant MELA-AU 4 1059657 1059657 single base substitution C T intron_variant MELA-AU 4 1060185 1060185 single base substitution C T intron_variant MELA-AU 4 1060304 1060304 single base substitution G A downstream_gene_variant MELA-AU 4 1060304 1060304 single base substitution G A intron_variant MELA-AU 4 1060344 1060344 single base substitution C T downstream_gene_variant MELA-AU 4 1060344 1060344 single base substitution C T intron_variant MELA-AU 4 1060463 1060463 single base substitution C T downstream_gene_variant MELA-AU 4 1060463 1060463 single base substitution C T intron_variant MELA-AU 4 1060768 1060768 single base substitution G A downstream_gene_variant MELA-AU 4 1060768 1060768 single base substitution G A intron_variant MELA-AU 4 1060821 1060821 single base substitution A C downstream_gene_variant MELA-AU 4 1060821 1060821 single base substitution A C intron_variant MELA-AU 4 1061032 1061032 single base substitution G A downstream_gene_variant MELA-AU 4 1061032 1061032 single base substitution G A intron_variant MELA-AU 4 1061333 1061333 single base substitution G A downstream_gene_variant MELA-AU 4 1061333 1061333 single base substitution G A intron_variant MELA-AU 4 1061480 1061480 single base substitution C T downstream_gene_variant MELA-AU 4 1061480 1061480 single base substitution C T intron_variant MELA-AU 4 1061550 1061550 single base substitution G A downstream_gene_variant MELA-AU 4 1061550 1061550 single base substitution G A intron_variant MELA-AU 4 1061977 1061977 single base substitution C T downstream_gene_variant MELA-AU 4 1061977 1061977 single base substitution C T intron_variant MELA-AU 4 1062403 1062403 single base substitution A G downstream_gene_variant MELA-AU 4 1062403 1062403 single base substitution A G intron_variant MELA-AU 4 1062513 1062513 single base substitution T C downstream_gene_variant MELA-AU 4 1062513 1062513 single base substitution T C intron_variant MELA-AU 4 1062704 1062704 single base substitution C T downstream_gene_variant MELA-AU 4 1062704 1062704 single base substitution C T intron_variant MELA-AU 4 1062763 1062763 single base substitution A T downstream_gene_variant MELA-AU 4 1062763 1062763 single base substitution A T intron_variant MELA-AU 4 1063119 1063119 single base substitution G A downstream_gene_variant MELA-AU 4 1063119 1063119 single base substitution G A intron_variant MELA-AU 4 1063269 1063269 single base substitution G A downstream_gene_variant MELA-AU 4 1063269 1063269 single base substitution G A intron_variant MELA-AU 4 1063317 1063317 single base substitution C T downstream_gene_variant MELA-AU 4 1063317 1063317 single base substitution C T intron_variant MELA-AU 4 1063320 1063320 single base substitution C T downstream_gene_variant MELA-AU 4 1063320 1063320 single base substitution C T intron_variant MELA-AU 4 1063336 1063336 single base substitution G A downstream_gene_variant MELA-AU 4 1063336 1063336 single base substitution G A intron_variant MELA-AU 4 1063379 1063379 single base substitution G A downstream_gene_variant MELA-AU 4 1063379 1063379 single base substitution G A intron_variant MELA-AU 4 1063519 1063519 single base substitution G A downstream_gene_variant MELA-AU 4 1063519 1063519 single base substitution G A intron_variant MELA-AU 4 1063631 1063631 single base substitution A C downstream_gene_variant MELA-AU 4 1063631 1063631 single base substitution A C intron_variant MELA-AU 4 1063827 1063827 single base substitution C T downstream_gene_variant MELA-AU 4 1063827 1063827 single base substitution C T intron_variant MELA-AU 4 1063910 1063910 single base substitution G A downstream_gene_variant MELA-AU 4 1063910 1063910 single base substitution G A intron_variant MELA-AU 4 1064650 1064650 single base substitution G A downstream_gene_variant MELA-AU 4 1064650 1064650 single base substitution G A intron_variant MELA-AU 4 1064651 1064651 single base substitution G A downstream_gene_variant MELA-AU 4 1064651 1064651 single base substitution G A intron_variant MELA-AU 4 1064721 1064721 single base substitution G A downstream_gene_variant MELA-AU 4 1064721 1064721 single base substitution G A intron_variant MELA-AU 4 1064856 1064856 single base substitution C T downstream_gene_variant MELA-AU 4 1064856 1064856 single base substitution C T intron_variant MELA-AU 4 1065453 1065453 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1065453 1065453 single base substitution C T downstream_gene_variant MELA-AU 4 1065453 1065453 single base substitution C T intron_variant MELA-AU 4 1066372 1066372 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1066372 1066372 single base substitution C T downstream_gene_variant MELA-AU 4 1066372 1066372 single base substitution C T intron_variant MELA-AU 4 1067357 1067357 single base substitution C T intron_variant MELA-AU 4 1067392 1067392 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1067392 1067392 single base substitution C T exon_variant MELA-AU 4 1067392 1067392 single base substitution C T missense_variant R190Q 569G>A MELA-AU 4 1067567 1067567 single base substitution C T intron_variant MELA-AU 4 1067567 1067567 single base substitution C T upstream_gene_variant MELA-AU 4 1067726 1067726 single base substitution G A intron_variant MELA-AU 4 1067726 1067726 single base substitution G A upstream_gene_variant MELA-AU 4 1067935 1067935 single base substitution C T intron_variant MELA-AU 4 1067935 1067935 single base substitution C T upstream_gene_variant MELA-AU 4 1068005 1068005 single base substitution G A intron_variant MELA-AU 4 1068005 1068005 single base substitution G A upstream_gene_variant MELA-AU 4 1068009 1068009 single base substitution G C intron_variant MELA-AU 4 1068009 1068009 single base substitution G C upstream_gene_variant MELA-AU 4 1068425 1068425 single base substitution A T intron_variant MELA-AU 4 1068425 1068425 single base substitution A T upstream_gene_variant MELA-AU 4 1068542 1068542 single base substitution A G intron_variant MELA-AU 4 1068542 1068542 single base substitution A G upstream_gene_variant MELA-AU 4 1068698 1068698 single base substitution G A intron_variant MELA-AU 4 1068698 1068698 single base substitution G A upstream_gene_variant MELA-AU 4 1068707 1068707 insertion of <=200bp - T intron_variant MELA-AU 4 1068707 1068707 insertion of <=200bp - T upstream_gene_variant MELA-AU 4 1069184 1069184 single base substitution C T intron_variant MELA-AU 4 1069184 1069184 single base substitution C T upstream_gene_variant MELA-AU 4 1069221 1069221 single base substitution G A intron_variant MELA-AU 4 1069221 1069221 single base substitution G A upstream_gene_variant MELA-AU 4 1069643 1069643 single base substitution G A intron_variant MELA-AU 4 1069643 1069643 single base substitution G A upstream_gene_variant MELA-AU 4 1070067 1070067 single base substitution G A intron_variant MELA-AU 4 1070067 1070067 single base substitution G A upstream_gene_variant MELA-AU 4 1070068 1070068 single base substitution G A intron_variant MELA-AU 4 1070068 1070068 single base substitution G A upstream_gene_variant MELA-AU 4 1070080 1070080 single base substitution G A intron_variant MELA-AU 4 1070080 1070080 single base substitution G A upstream_gene_variant MELA-AU 4 1070086 1070086 single base substitution G A intron_variant MELA-AU 4 1070086 1070086 single base substitution G A upstream_gene_variant MELA-AU 4 1070136 1070136 single base substitution G A intron_variant MELA-AU 4 1070136 1070136 single base substitution G A upstream_gene_variant MELA-AU 4 1070226 1070226 single base substitution C T intron_variant MELA-AU 4 1070226 1070226 single base substitution C T upstream_gene_variant MELA-AU 4 1070414 1070414 single base substitution G A intron_variant MELA-AU 4 1070414 1070414 single base substitution G A upstream_gene_variant MELA-AU 4 1070890 1070890 single base substitution C T intron_variant MELA-AU 4 1070890 1070890 single base substitution C T upstream_gene_variant MELA-AU 4 1070899 1070899 single base substitution C T intron_variant MELA-AU 4 1070899 1070899 single base substitution C T upstream_gene_variant MELA-AU 4 1071134 1071134 single base substitution C T intron_variant MELA-AU 4 1071134 1071134 single base substitution C T upstream_gene_variant MELA-AU 4 1071413 1071413 single base substitution C T intron_variant MELA-AU 4 1071413 1071413 single base substitution C T upstream_gene_variant MELA-AU 4 1071445 1071445 single base substitution C T intron_variant MELA-AU 4 1071445 1071445 single base substitution C T upstream_gene_variant MELA-AU 4 1071581 1071581 single base substitution G A intron_variant MELA-AU 4 1071581 1071581 single base substitution G A upstream_gene_variant MELA-AU 4 1071588 1071588 single base substitution G A intron_variant MELA-AU 4 1071588 1071588 single base substitution G A upstream_gene_variant MELA-AU 4 1071599 1071599 single base substitution G A intron_variant MELA-AU 4 1071599 1071599 single base substitution G A upstream_gene_variant MELA-AU 4 1072136 1072136 single base substitution C T intron_variant MELA-AU 4 1072136 1072136 single base substitution C T upstream_gene_variant MELA-AU 4 1072467 1072467 single base substitution C T intron_variant MELA-AU 4 1072467 1072467 single base substitution C T upstream_gene_variant MELA-AU 4 1072892 1072892 single base substitution C G intron_variant MELA-AU 4 1073280 1073281 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1073378 1073378 single base substitution G A intron_variant MELA-AU 4 1073442 1073442 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1073442 1073442 single base substitution G A exon_variant MELA-AU 4 1073442 1073442 single base substitution G A intron_variant MELA-AU 4 1073442 1073442 single base substitution G A missense_variant P167S 499C>T MELA-AU 4 1073448 1073448 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1073448 1073448 single base substitution G A exon_variant MELA-AU 4 1073448 1073448 single base substitution G A intron_variant MELA-AU 4 1073448 1073448 single base substitution G A missense_variant P165S 493C>T MELA-AU 4 1073642 1073642 single base substitution C T intron_variant MELA-AU 4 1073655 1073655 single base substitution G A intron_variant MELA-AU 4 1074169 1074169 single base substitution G A intron_variant MELA-AU 4 1074273 1074274 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 1074301 1074301 single base substitution G A intron_variant MELA-AU 4 1074673 1074673 single base substitution G A downstream_gene_variant MELA-AU 4 1074673 1074673 single base substitution G A intron_variant MELA-AU 4 1074683 1074683 single base substitution T C downstream_gene_variant MELA-AU 4 1074683 1074683 single base substitution T C intron_variant MELA-AU 4 1074879 1074879 single base substitution C T downstream_gene_variant MELA-AU 4 1074879 1074879 single base substitution C T intron_variant MELA-AU 4 1075195 1075195 single base substitution C T downstream_gene_variant MELA-AU 4 1075195 1075195 single base substitution C T intron_variant MELA-AU 4 1075272 1075272 single base substitution G A downstream_gene_variant MELA-AU 4 1075272 1075272 single base substitution G A intron_variant MELA-AU 4 1075418 1075418 single base substitution G A downstream_gene_variant MELA-AU 4 1075418 1075418 single base substitution G A exon_variant MELA-AU 4 1075418 1075418 single base substitution G A intron_variant MELA-AU 4 1075418 1075418 single base substitution G A upstream_gene_variant MELA-AU 4 1075456 1075456 single base substitution C T downstream_gene_variant MELA-AU 4 1075456 1075456 single base substitution C T exon_variant MELA-AU 4 1075456 1075456 single base substitution C T intron_variant MELA-AU 4 1075456 1075456 single base substitution C T upstream_gene_variant MELA-AU 4 1075590 1075590 single base substitution C T downstream_gene_variant MELA-AU 4 1075590 1075590 single base substitution C T exon_variant MELA-AU 4 1075590 1075590 single base substitution C T intron_variant MELA-AU 4 1075590 1075590 single base substitution C T upstream_gene_variant MELA-AU 4 1075889 1075889 single base substitution G A downstream_gene_variant MELA-AU 4 1075889 1075889 single base substitution G A intron_variant MELA-AU 4 1075889 1075889 single base substitution G A upstream_gene_variant MELA-AU 4 1075918 1075918 single base substitution G A downstream_gene_variant MELA-AU 4 1075918 1075918 single base substitution G A intron_variant MELA-AU 4 1075918 1075918 single base substitution G A upstream_gene_variant MELA-AU 4 1076995 1076995 single base substitution G A downstream_gene_variant MELA-AU 4 1076995 1076995 single base substitution G A intron_variant MELA-AU 4 1076995 1076995 single base substitution G A upstream_gene_variant MELA-AU 4 1077178 1077178 single base substitution C T downstream_gene_variant MELA-AU 4 1077178 1077178 single base substitution C T intron_variant MELA-AU 4 1077178 1077178 single base substitution C T upstream_gene_variant MELA-AU 4 1077380 1077380 single base substitution C T downstream_gene_variant MELA-AU 4 1077380 1077380 single base substitution C T intron_variant MELA-AU 4 1077380 1077380 single base substitution C T upstream_gene_variant MELA-AU 4 1078469 1078469 single base substitution C T downstream_gene_variant MELA-AU 4 1078469 1078469 single base substitution C T intron_variant MELA-AU 4 1078469 1078469 single base substitution C T upstream_gene_variant MELA-AU 4 1078545 1078545 single base substitution G A downstream_gene_variant MELA-AU 4 1078545 1078545 single base substitution G A intron_variant MELA-AU 4 1078545 1078545 single base substitution G A upstream_gene_variant MELA-AU 4 1078554 1078554 single base substitution G A downstream_gene_variant MELA-AU 4 1078554 1078554 single base substitution G A intron_variant MELA-AU 4 1078554 1078554 single base substitution G A upstream_gene_variant MELA-AU 4 1078714 1078714 single base substitution G A downstream_gene_variant MELA-AU 4 1078714 1078714 single base substitution G A intron_variant MELA-AU 4 1078714 1078714 single base substitution G A upstream_gene_variant MELA-AU 4 1078995 1078995 single base substitution C T downstream_gene_variant MELA-AU 4 1078995 1078995 single base substitution C T intron_variant MELA-AU 4 1078995 1078995 single base substitution C T upstream_gene_variant MELA-AU 4 1079103 1079103 single base substitution G A downstream_gene_variant MELA-AU 4 1079103 1079103 single base substitution G A intron_variant MELA-AU 4 1079103 1079103 single base substitution G A upstream_gene_variant MELA-AU 4 1079141 1079141 single base substitution G A downstream_gene_variant MELA-AU 4 1079141 1079141 single base substitution G A intron_variant MELA-AU 4 1079141 1079141 single base substitution G A upstream_gene_variant MELA-AU 4 1079414 1079414 single base substitution C T downstream_gene_variant MELA-AU 4 1079414 1079414 single base substitution C T intron_variant MELA-AU 4 1079414 1079414 single base substitution C T upstream_gene_variant MELA-AU 4 1079566 1079566 single base substitution G A exon_variant MELA-AU 4 1079566 1079566 single base substitution G A intron_variant MELA-AU 4 1079566 1079566 single base substitution G A upstream_gene_variant MELA-AU 4 1079721 1079721 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1079721 1079721 single base substitution G A exon_variant MELA-AU 4 1079721 1079721 single base substitution G A missense_variant L109F 325C>T MELA-AU 4 1079721 1079721 single base substitution G A upstream_gene_variant MELA-AU 4 1079938 1079938 single base substitution G A intron_variant MELA-AU 4 1079938 1079938 single base substitution G A upstream_gene_variant MELA-AU 4 1080122 1080122 single base substitution C T intron_variant MELA-AU 4 1080122 1080122 single base substitution C T upstream_gene_variant MELA-AU 4 1081881 1081881 single base substitution A C intron_variant MELA-AU 4 1082046 1082046 single base substitution G A intron_variant MELA-AU 4 1082416 1082416 single base substitution C T downstream_gene_variant MELA-AU 4 1082416 1082416 single base substitution C T intron_variant MELA-AU 4 1082520 1082520 single base substitution G A downstream_gene_variant MELA-AU 4 1082520 1082520 single base substitution G A intron_variant MELA-AU 4 1082522 1082522 single base substitution C T downstream_gene_variant MELA-AU 4 1082522 1082522 single base substitution C T intron_variant MELA-AU 4 1082556 1082556 single base substitution G A downstream_gene_variant MELA-AU 4 1082556 1082556 single base substitution G A intron_variant MELA-AU 4 1082688 1082688 single base substitution G A downstream_gene_variant MELA-AU 4 1082688 1082688 single base substitution G A intron_variant MELA-AU 4 1082691 1082691 single base substitution A G downstream_gene_variant MELA-AU 4 1082691 1082691 single base substitution A G intron_variant MELA-AU 4 1082720 1082720 single base substitution G A downstream_gene_variant MELA-AU 4 1082720 1082720 single base substitution G A intron_variant MELA-AU 4 1082799 1082799 single base substitution G A downstream_gene_variant MELA-AU 4 1082799 1082799 single base substitution G A intron_variant MELA-AU 4 1082820 1082820 single base substitution C T downstream_gene_variant MELA-AU 4 1082820 1082820 single base substitution C T intron_variant MELA-AU 4 1082956 1082956 single base substitution C T downstream_gene_variant MELA-AU 4 1082956 1082956 single base substitution C T intron_variant MELA-AU 4 1082998 1082998 single base substitution G A downstream_gene_variant MELA-AU 4 1082998 1082998 single base substitution G A intron_variant MELA-AU 4 1083053 1083053 single base substitution G T downstream_gene_variant MELA-AU 4 1083053 1083053 single base substitution G T intron_variant MELA-AU 4 1083172 1083172 single base substitution G A downstream_gene_variant MELA-AU 4 1083172 1083172 single base substitution G A intron_variant MELA-AU 4 1083371 1083371 single base substitution G A downstream_gene_variant MELA-AU 4 1083371 1083371 single base substitution G A intron_variant MELA-AU 4 1083436 1083436 single base substitution C T downstream_gene_variant MELA-AU 4 1083436 1083436 single base substitution C T intron_variant MELA-AU 4 1083483 1083483 single base substitution G A downstream_gene_variant MELA-AU 4 1083483 1083483 single base substitution G A intron_variant MELA-AU 4 1083507 1083507 single base substitution T C downstream_gene_variant MELA-AU 4 1083507 1083507 single base substitution T C intron_variant MELA-AU 4 1083716 1083716 single base substitution G A downstream_gene_variant MELA-AU 4 1083716 1083716 single base substitution G A intron_variant MELA-AU 4 1083947 1083947 single base substitution G A downstream_gene_variant MELA-AU 4 1083947 1083947 single base substitution G A intron_variant MELA-AU 4 1083974 1083974 single base substitution G A downstream_gene_variant MELA-AU 4 1083974 1083974 single base substitution G A intron_variant MELA-AU 4 1084107 1084107 single base substitution G A downstream_gene_variant MELA-AU 4 1084107 1084107 single base substitution G A intron_variant MELA-AU 4 1084130 1084130 single base substitution C T downstream_gene_variant MELA-AU 4 1084130 1084130 single base substitution C T intron_variant MELA-AU 4 1084157 1084157 single base substitution C T downstream_gene_variant MELA-AU 4 1084157 1084157 single base substitution C T intron_variant MELA-AU 4 1084186 1084186 single base substitution T A downstream_gene_variant MELA-AU 4 1084186 1084186 single base substitution T A intron_variant MELA-AU 4 1084757 1084757 single base substitution C T downstream_gene_variant MELA-AU 4 1084757 1084757 single base substitution C T intron_variant MELA-AU 4 1084812 1084812 single base substitution G A downstream_gene_variant MELA-AU 4 1084812 1084812 single base substitution G A intron_variant MELA-AU 4 1084870 1084870 single base substitution G A downstream_gene_variant MELA-AU 4 1084870 1084870 single base substitution G A intron_variant MELA-AU 4 1084900 1084900 single base substitution G A downstream_gene_variant MELA-AU 4 1084900 1084900 single base substitution G A intron_variant MELA-AU 4 1084902 1084902 single base substitution G A downstream_gene_variant MELA-AU 4 1084902 1084902 single base substitution G A intron_variant MELA-AU 4 1084910 1084910 single base substitution C T downstream_gene_variant MELA-AU 4 1084910 1084910 single base substitution C T intron_variant MELA-AU 4 1084976 1084976 single base substitution G A downstream_gene_variant MELA-AU 4 1084976 1084976 single base substitution G A intron_variant MELA-AU 4 1085096 1085096 single base substitution C T downstream_gene_variant MELA-AU 4 1085096 1085096 single base substitution C T intron_variant MELA-AU 4 1085460 1085460 single base substitution G A downstream_gene_variant MELA-AU 4 1085460 1085460 single base substitution G A intron_variant MELA-AU 4 1085841 1085842 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 4 1085841 1085842 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 4 1085874 1085874 single base substitution G A downstream_gene_variant MELA-AU 4 1085874 1085874 single base substitution G A intron_variant MELA-AU 4 1086152 1086152 single base substitution G A downstream_gene_variant MELA-AU 4 1086152 1086152 single base substitution G A intron_variant MELA-AU 4 1086239 1086239 single base substitution G A downstream_gene_variant MELA-AU 4 1086239 1086239 single base substitution G A intron_variant MELA-AU 4 1086533 1086533 single base substitution G A downstream_gene_variant MELA-AU 4 1086533 1086533 single base substitution G A intron_variant MELA-AU 4 1086734 1086734 single base substitution C T downstream_gene_variant MELA-AU 4 1086734 1086734 single base substitution C T intron_variant MELA-AU 4 1086851 1086851 single base substitution G A downstream_gene_variant MELA-AU 4 1086851 1086851 single base substitution G A intron_variant MELA-AU 4 1086962 1086962 single base substitution G A downstream_gene_variant MELA-AU 4 1086962 1086962 single base substitution G A intron_variant MELA-AU 4 1087081 1087081 single base substitution G A downstream_gene_variant MELA-AU 4 1087081 1087081 single base substitution G A intron_variant MELA-AU 4 1087540 1087540 single base substitution G A downstream_gene_variant MELA-AU 4 1087540 1087540 single base substitution G A intron_variant MELA-AU 4 1087540 1087540 single base substitution G A missense_variant P170L 509C>T MELA-AU 4 1087609 1087609 single base substitution G A downstream_gene_variant MELA-AU 4 1087609 1087609 single base substitution G A intron_variant MELA-AU 4 1087609 1087609 single base substitution G A missense_variant T147I 440C>T MELA-AU 4 1087882 1087882 single base substitution T G downstream_gene_variant MELA-AU 4 1087882 1087882 single base substitution T G intron_variant MELA-AU 4 1087947 1087947 single base substitution C T downstream_gene_variant MELA-AU 4 1087947 1087947 single base substitution C T intron_variant MELA-AU 4 1088022 1088022 single base substitution G A downstream_gene_variant MELA-AU 4 1088022 1088022 single base substitution G A intron_variant MELA-AU 4 1088065 1088065 single base substitution C T downstream_gene_variant MELA-AU 4 1088065 1088065 single base substitution C T intron_variant MELA-AU 4 1088074 1088074 single base substitution C T downstream_gene_variant MELA-AU 4 1088074 1088074 single base substitution C T intron_variant MELA-AU 4 1088169 1088169 single base substitution G A downstream_gene_variant MELA-AU 4 1088169 1088169 single base substitution G A intron_variant MELA-AU 4 1088309 1088309 single base substitution T G downstream_gene_variant MELA-AU 4 1088309 1088309 single base substitution T G intron_variant MELA-AU 4 1088361 1088361 single base substitution C T downstream_gene_variant MELA-AU 4 1088361 1088361 single base substitution C T intron_variant MELA-AU 4 1088506 1088506 single base substitution G A downstream_gene_variant MELA-AU 4 1088506 1088506 single base substitution G A intron_variant MELA-AU 4 1088510 1088536 deletion of <=200bp AGTGTCAAGAAGCAACCTGCTGCCCTG - downstream_gene_variant MELA-AU 4 1088510 1088536 deletion of <=200bp AGTGTCAAGAAGCAACCTGCTGCCCTG - intron_variant MELA-AU 4 1088843 1088843 single base substitution G A downstream_gene_variant MELA-AU 4 1088843 1088843 single base substitution G A intron_variant MELA-AU 4 1088991 1088991 single base substitution G A downstream_gene_variant MELA-AU 4 1088991 1088991 single base substitution G A intron_variant MELA-AU 4 1089012 1089012 single base substitution G A downstream_gene_variant MELA-AU 4 1089012 1089012 single base substitution G A intron_variant MELA-AU 4 1089319 1089319 single base substitution C T downstream_gene_variant MELA-AU 4 1089319 1089319 single base substitution C T intron_variant MELA-AU 4 1089555 1089555 single base substitution C T downstream_gene_variant MELA-AU 4 1089555 1089555 single base substitution C T intron_variant MELA-AU 4 1089773 1089773 single base substitution C T downstream_gene_variant MELA-AU 4 1089773 1089773 single base substitution C T intron_variant MELA-AU 4 1090375 1090375 single base substitution T C downstream_gene_variant MELA-AU 4 1090375 1090375 single base substitution T C exon_variant MELA-AU 4 1090375 1090375 single base substitution T C intron_variant MELA-AU 4 1090394 1090394 single base substitution C T downstream_gene_variant MELA-AU 4 1090394 1090394 single base substitution C T exon_variant MELA-AU 4 1090394 1090394 single base substitution C T intron_variant MELA-AU 4 1090407 1090407 single base substitution G A downstream_gene_variant MELA-AU 4 1090407 1090407 single base substitution G A exon_variant MELA-AU 4 1090407 1090407 single base substitution G A intron_variant MELA-AU 4 1090440 1090440 single base substitution C T downstream_gene_variant MELA-AU 4 1090440 1090440 single base substitution C T exon_variant MELA-AU 4 1090440 1090440 single base substitution C T intron_variant MELA-AU 4 1090499 1090499 single base substitution C T downstream_gene_variant MELA-AU 4 1090499 1090499 single base substitution C T exon_variant MELA-AU 4 1090499 1090499 single base substitution C T intron_variant MELA-AU 4 1090501 1090501 single base substitution G A downstream_gene_variant MELA-AU 4 1090501 1090501 single base substitution G A exon_variant MELA-AU 4 1090501 1090501 single base substitution G A intron_variant MELA-AU 4 1090811 1090811 single base substitution G A downstream_gene_variant MELA-AU 4 1090811 1090811 single base substitution G A intron_variant MELA-AU 4 1090820 1090820 single base substitution C T downstream_gene_variant MELA-AU 4 1090820 1090820 single base substitution C T intron_variant MELA-AU 4 1091256 1091256 single base substitution G A downstream_gene_variant MELA-AU 4 1091256 1091256 single base substitution G A intron_variant MELA-AU 4 1091358 1091358 single base substitution A C downstream_gene_variant MELA-AU 4 1091358 1091358 single base substitution A C intron_variant MELA-AU 4 1091425 1091425 single base substitution C T downstream_gene_variant MELA-AU 4 1091425 1091425 single base substitution C T intron_variant MELA-AU 4 1091801 1091801 single base substitution C T downstream_gene_variant MELA-AU 4 1091801 1091801 single base substitution C T intron_variant MELA-AU 4 1092396 1092396 single base substitution A T downstream_gene_variant MELA-AU 4 1092396 1092396 single base substitution A T intron_variant MELA-AU 4 1092977 1092977 single base substitution G A downstream_gene_variant MELA-AU 4 1092977 1092977 single base substitution G A intron_variant MELA-AU 4 1093029 1093029 single base substitution C T downstream_gene_variant MELA-AU 4 1093029 1093029 single base substitution C T intron_variant MELA-AU 4 1093318 1093318 single base substitution C T downstream_gene_variant MELA-AU 4 1093318 1093318 single base substitution C T intron_variant MELA-AU 4 1093404 1093404 single base substitution G A downstream_gene_variant MELA-AU 4 1093404 1093404 single base substitution G A intron_variant MELA-AU 4 1093683 1093683 single base substitution T C downstream_gene_variant MELA-AU 4 1093683 1093683 single base substitution T C exon_variant MELA-AU 4 1093683 1093683 single base substitution T C intron_variant MELA-AU 4 1093683 1093683 single base substitution T C upstream_gene_variant MELA-AU 4 1093743 1093743 single base substitution G A downstream_gene_variant MELA-AU 4 1093743 1093743 single base substitution G A intron_variant MELA-AU 4 1093743 1093743 single base substitution G A upstream_gene_variant MELA-AU 4 1093967 1093967 single base substitution C G downstream_gene_variant MELA-AU 4 1093967 1093967 single base substitution C G intron_variant MELA-AU 4 1093967 1093967 single base substitution C G upstream_gene_variant MELA-AU 4 1094271 1094271 single base substitution C T downstream_gene_variant MELA-AU 4 1094271 1094271 single base substitution C T intron_variant MELA-AU 4 1094271 1094271 single base substitution C T upstream_gene_variant MELA-AU 4 1094428 1094428 single base substitution C A downstream_gene_variant MELA-AU 4 1094428 1094428 single base substitution C A intron_variant MELA-AU 4 1094428 1094428 single base substitution C A upstream_gene_variant MELA-AU 4 1094517 1094517 single base substitution C T downstream_gene_variant MELA-AU 4 1094517 1094517 single base substitution C T intron_variant MELA-AU 4 1094517 1094517 single base substitution C T upstream_gene_variant MELA-AU 4 1094582 1094582 single base substitution G A downstream_gene_variant MELA-AU 4 1094582 1094582 single base substitution G A intron_variant MELA-AU 4 1094582 1094582 single base substitution G A upstream_gene_variant MELA-AU 4 1094693 1094693 single base substitution C T downstream_gene_variant MELA-AU 4 1094693 1094693 single base substitution C T intron_variant MELA-AU 4 1094693 1094693 single base substitution C T upstream_gene_variant MELA-AU 4 1094731 1094731 single base substitution C T exon_variant MELA-AU 4 1094731 1094731 single base substitution C T intron_variant MELA-AU 4 1094731 1094731 single base substitution C T upstream_gene_variant MELA-AU 4 1094812 1094812 single base substitution C G exon_variant MELA-AU 4 1094812 1094812 single base substitution C G intron_variant MELA-AU 4 1094812 1094812 single base substitution C G upstream_gene_variant MELA-AU 4 1094855 1094855 single base substitution C T intron_variant MELA-AU 4 1094855 1094855 single base substitution C T splice_region_variant MELA-AU 4 1094855 1094855 single base substitution C T upstream_gene_variant MELA-AU 4 1094935 1094935 single base substitution C T intron_variant MELA-AU 4 1094935 1094935 single base substitution C T upstream_gene_variant MELA-AU 4 1095202 1095202 single base substitution C T intron_variant MELA-AU 4 1095202 1095202 single base substitution C T upstream_gene_variant MELA-AU 4 1095249 1095249 single base substitution G A intron_variant MELA-AU 4 1095249 1095249 single base substitution G A upstream_gene_variant MELA-AU 4 1095400 1095400 single base substitution C T intron_variant MELA-AU 4 1095400 1095400 single base substitution C T upstream_gene_variant MELA-AU 4 1095451 1095451 single base substitution C T intron_variant MELA-AU 4 1095451 1095451 single base substitution C T upstream_gene_variant MELA-AU 4 1095964 1095964 single base substitution G A intron_variant MELA-AU 4 1095964 1095964 single base substitution G A upstream_gene_variant MELA-AU 4 1095969 1095969 single base substitution G A intron_variant MELA-AU 4 1095969 1095969 single base substitution G A upstream_gene_variant MELA-AU 4 1096022 1096022 single base substitution G A intron_variant MELA-AU 4 1096022 1096022 single base substitution G A upstream_gene_variant MELA-AU 4 1096247 1096247 single base substitution G A intron_variant MELA-AU 4 1096247 1096247 single base substitution G A upstream_gene_variant MELA-AU 4 1096677 1096677 single base substitution C T intron_variant MELA-AU 4 1096677 1096677 single base substitution C T upstream_gene_variant MELA-AU 4 1096824 1096824 single base substitution G A intron_variant MELA-AU 4 1096824 1096824 single base substitution G A upstream_gene_variant MELA-AU 4 1097150 1097150 single base substitution G A intron_variant MELA-AU 4 1097150 1097150 single base substitution G A upstream_gene_variant MELA-AU 4 1097356 1097356 single base substitution C T intron_variant MELA-AU 4 1097356 1097356 single base substitution C T upstream_gene_variant MELA-AU 4 1097535 1097535 single base substitution G A intron_variant MELA-AU 4 1097535 1097535 single base substitution G A upstream_gene_variant MELA-AU 4 1097581 1097581 single base substitution C T intron_variant MELA-AU 4 1097581 1097581 single base substitution C T upstream_gene_variant MELA-AU 4 1097677 1097677 insertion of <=200bp - T intron_variant MELA-AU 4 1097677 1097677 insertion of <=200bp - T upstream_gene_variant MELA-AU 4 1097712 1097712 single base substitution G A intron_variant MELA-AU 4 1097712 1097712 single base substitution G A upstream_gene_variant MELA-AU 4 1097929 1097929 single base substitution G A intron_variant MELA-AU 4 1097929 1097929 single base substitution G A upstream_gene_variant MELA-AU 4 1098437 1098437 single base substitution C T intron_variant MELA-AU 4 1098437 1098437 single base substitution C T upstream_gene_variant MELA-AU 4 1098475 1098475 single base substitution G A intron_variant MELA-AU 4 1098475 1098475 single base substitution G A upstream_gene_variant MELA-AU 4 1098631 1098631 single base substitution G A intron_variant MELA-AU 4 1098631 1098631 single base substitution G A upstream_gene_variant MELA-AU 4 1098636 1098636 single base substitution G A intron_variant MELA-AU 4 1098636 1098636 single base substitution G A upstream_gene_variant MELA-AU 4 1098678 1098678 single base substitution G A intron_variant MELA-AU 4 1098735 1098735 single base substitution C T intron_variant MELA-AU 4 1098982 1098982 single base substitution T A intron_variant MELA-AU 4 1099074 1099074 single base substitution C T intron_variant MELA-AU 4 1099143 1099143 single base substitution C T intron_variant MELA-AU 4 1099208 1099208 single base substitution C T intron_variant MELA-AU 4 1099504 1099504 single base substitution G A intron_variant MELA-AU 4 1099533 1099533 single base substitution C T intron_variant MELA-AU 4 1099551 1099551 single base substitution G A intron_variant MELA-AU 4 1099702 1099702 single base substitution C T intron_variant MELA-AU 4 1099812 1099812 single base substitution G A intron_variant MELA-AU 4 1100109 1100109 single base substitution C T intron_variant MELA-AU 4 1100233 1100233 single base substitution G A intron_variant MELA-AU 4 1100700 1100700 single base substitution G A intron_variant MELA-AU 4 1101222 1101222 single base substitution G A intron_variant MELA-AU 4 1101337 1101337 single base substitution C T intron_variant MELA-AU 4 1101660 1101660 single base substitution G A intron_variant MELA-AU 4 1101848 1101848 single base substitution G A intron_variant MELA-AU 4 1102298 1102298 single base substitution C T intron_variant MELA-AU 4 1102353 1102353 single base substitution G A intron_variant MELA-AU 4 1102838 1102838 single base substitution C T intron_variant MELA-AU 4 1102918 1102918 single base substitution C T intron_variant MELA-AU 4 1103256 1103256 single base substitution C T intron_variant MELA-AU 4 1103667 1103667 single base substitution C T intron_variant MELA-AU 4 1104137 1104137 single base substitution C T intron_variant MELA-AU 4 1104710 1104710 single base substitution G A intron_variant MELA-AU 4 1104742 1104742 single base substitution C T intron_variant MELA-AU 4 1105755 1105755 single base substitution C T intron_variant MELA-AU 4 1105778 1105778 single base substitution T C intron_variant MELA-AU 4 1105848 1105848 single base substitution C T intron_variant MELA-AU 4 1105992 1105992 single base substitution C T intron_variant MELA-AU 4 1106295 1106295 single base substitution C T intron_variant MELA-AU 4 1106314 1106314 single base substitution C T intron_variant MELA-AU 4 1107307 1107307 single base substitution T C 5_prime_UTR_variant MELA-AU 4 1107307 1107307 single base substitution T C exon_variant MELA-AU 4 1107307 1107307 single base substitution T C upstream_gene_variant MELA-AU 4 1108131 1108131 single base substitution C T upstream_gene_variant MELA-AU 4 1108184 1108184 single base substitution G A upstream_gene_variant MELA-AU 4 1108379 1108380 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant MELA-AU 4 1108948 1108948 single base substitution C T upstream_gene_variant MELA-AU 4 1109096 1109096 single base substitution G A upstream_gene_variant MELA-AU 4 1109179 1109179 single base substitution G A upstream_gene_variant MELA-AU 4 1109245 1109245 single base substitution G A upstream_gene_variant MELA-AU 4 1109589 1109589 single base substitution G A upstream_gene_variant MELA-AU 4 1109688 1109688 single base substitution C T upstream_gene_variant MELA-AU 4 1109717 1109717 single base substitution G A upstream_gene_variant MELA-AU 4 1109807 1109807 single base substitution G A upstream_gene_variant MELA-AU 4 1109975 1109975 single base substitution C T upstream_gene_variant MELA-AU 4 1110165 1110165 single base substitution C T upstream_gene_variant MELA-AU 4 1110180 1110180 single base substitution G A upstream_gene_variant MELA-AU 4 1110280 1110280 single base substitution C T upstream_gene_variant MELA-AU 4 1110339 1110339 single base substitution C T upstream_gene_variant MELA-AU 4 1110963 1110963 single base substitution C T upstream_gene_variant MELA-AU 4 1111497 1111497 single base substitution G A upstream_gene_variant MELA-AU 4 1111505 1111505 single base substitution C T upstream_gene_variant MELA-AU 4 1111506 1111506 single base substitution C T upstream_gene_variant MELA-AU 4 1111512 1111512 single base substitution C A upstream_gene_variant MELA-AU 4 1111596 1111596 single base substitution C T upstream_gene_variant MELA-AU 4 1112082 1112082 single base substitution G A upstream_gene_variant MELA-AU 4 1112125 1112125 single base substitution G A upstream_gene_variant MELA-AU 4 1112264 1112264 single base substitution A T upstream_gene_variant MELA-AU 4 1112278 1112278 single base substitution G A upstream_gene_variant ORCA-IN 4 1047335 1047354 deletion of <=200bp GTCAGCTCCCGGAGGGGAGC - downstream_gene_variant ORCA-IN 4 1058374 1058374 single base substitution T G intron_variant ORCA-IN 4 1088267 1088267 single base substitution C A downstream_gene_variant ORCA-IN 4 1088267 1088267 single base substitution C A intron_variant OV-AU 4 1057592 1057592 single base substitution G C intron_variant OV-AU 4 1058011 1058011 single base substitution A G intron_variant OV-AU 4 1072450 1072450 single base substitution A C intron_variant OV-AU 4 1072450 1072450 single base substitution A C upstream_gene_variant OV-AU 4 1074938 1074938 single base substitution G A downstream_gene_variant OV-AU 4 1074938 1074938 single base substitution G A intron_variant OV-AU 4 1075012 1075012 single base substitution C A downstream_gene_variant OV-AU 4 1075012 1075012 single base substitution C A intron_variant OV-AU 4 1079348 1079348 single base substitution C A downstream_gene_variant OV-AU 4 1079348 1079348 single base substitution C A intron_variant OV-AU 4 1079348 1079348 single base substitution C A upstream_gene_variant OV-AU 4 1082749 1082749 single base substitution G C downstream_gene_variant OV-AU 4 1082749 1082749 single base substitution G C intron_variant OV-AU 4 1104365 1104365 single base substitution G A intron_variant OV-AU 4 1104748 1104748 single base substitution C G intron_variant OV-AU 4 1105027 1105027 single base substitution A G intron_variant OV-AU 4 1105379 1105379 single base substitution C G intron_variant OV-AU 4 1110020 1110045 deletion of <=200bp AGAGATAAAATAAGTTGAATAGGCAG - upstream_gene_variant OV-AU 4 1111282 1111282 single base substitution T C upstream_gene_variant OV-AU 4 1111839 1111839 single base substitution T G upstream_gene_variant PACA-AU 4 1046222 1046222 single base substitution C G downstream_gene_variant PACA-AU 4 1047335 1047354 deletion of <=200bp GTCAGCTCCCGGAGGGGAGC - downstream_gene_variant PACA-AU 4 1049811 1049811 single base substitution G C downstream_gene_variant PACA-AU 4 1050123 1050123 single base substitution G A downstream_gene_variant PACA-AU 4 1050123 1050123 single base substitution G A exon_variant PACA-AU 4 1060295 1060295 single base substitution T A downstream_gene_variant PACA-AU 4 1060295 1060295 single base substitution T A intron_variant PACA-AU 4 1060307 1060307 single base substitution G T downstream_gene_variant PACA-AU 4 1060307 1060307 single base substitution G T intron_variant PACA-AU 4 1062102 1062102 single base substitution T C downstream_gene_variant PACA-AU 4 1062102 1062102 single base substitution T C intron_variant PACA-AU 4 1069247 1069247 single base substitution G A intron_variant PACA-AU 4 1069247 1069247 single base substitution G A upstream_gene_variant PACA-AU 4 1069289 1069289 single base substitution G T intron_variant PACA-AU 4 1069289 1069289 single base substitution G T upstream_gene_variant PACA-AU 4 1073441 1073441 single base substitution G A 3_prime_UTR_variant PACA-AU 4 1073441 1073441 single base substitution G A exon_variant PACA-AU 4 1073441 1073441 single base substitution G A intron_variant PACA-AU 4 1073441 1073441 single base substitution G A missense_variant P167L 500C>T PACA-AU 4 1074709 1074709 single base substitution C T downstream_gene_variant PACA-AU 4 1074709 1074709 single base substitution C T intron_variant PACA-AU 4 1076746 1076746 single base substitution A G downstream_gene_variant PACA-AU 4 1076746 1076746 single base substitution A G intron_variant PACA-AU 4 1076746 1076746 single base substitution A G upstream_gene_variant PACA-AU 4 1085280 1085280 single base substitution C T downstream_gene_variant PACA-AU 4 1085280 1085280 single base substitution C T intron_variant PACA-AU 4 1087400 1087400 single base substitution G A downstream_gene_variant PACA-AU 4 1087400 1087400 single base substitution G A intron_variant PACA-AU 4 1087400 1087400 single base substitution G A missense_variant R217W 649C>T PACA-AU 4 1090264 1090264 single base substitution G A downstream_gene_variant PACA-AU 4 1090264 1090264 single base substitution G A exon_variant PACA-AU 4 1090264 1090264 single base substitution G A intron_variant PACA-AU 4 1094448 1094448 single base substitution C T downstream_gene_variant PACA-AU 4 1094448 1094448 single base substitution C T intron_variant PACA-AU 4 1094448 1094448 single base substitution C T upstream_gene_variant PACA-AU 4 1096572 1096572 single base substitution G A intron_variant PACA-AU 4 1096572 1096572 single base substitution G A upstream_gene_variant PACA-AU 4 1102306 1102306 single base substitution G A intron_variant PACA-AU 4 1103538 1103538 deletion of <=200bp C - intron_variant PACA-AU 4 1105951 1105951 single base substitution C T intron_variant PACA-AU 4 1107301 1107301 single base substitution G A 5_prime_UTR_variant PACA-AU 4 1107301 1107301 single base substitution G A exon_variant PACA-AU 4 1108381 1108381 deletion of <=200bp A - upstream_gene_variant PACA-AU 4 1110023 1110023 single base substitution G A upstream_gene_variant PACA-CA 4 1045346 1045346 single base substitution A G downstream_gene_variant PACA-CA 4 1050751 1050751 single base substitution G A 3_prime_UTR_variant PACA-CA 4 1050751 1050751 single base substitution G A exon_variant PACA-CA 4 1050751 1050751 single base substitution G A intron_variant PACA-CA 4 1054061 1054061 single base substitution C T intron_variant PACA-CA 4 1054061 1054061 single base substitution C T upstream_gene_variant PACA-CA 4 1054568 1054568 single base substitution G A intron_variant PACA-CA 4 1054568 1054568 single base substitution G A upstream_gene_variant PACA-CA 4 1057273 1057273 single base substitution C A intron_variant PACA-CA 4 1058742 1058742 single base substitution C T intron_variant PACA-CA 4 1059606 1059606 single base substitution T C intron_variant PACA-CA 4 1062072 1062072 single base substitution G A downstream_gene_variant PACA-CA 4 1062072 1062072 single base substitution G A intron_variant PACA-CA 4 1064482 1064482 single base substitution C T downstream_gene_variant PACA-CA 4 1064482 1064482 single base substitution C T intron_variant PACA-CA 4 1066419 1066419 single base substitution C T 3_prime_UTR_variant PACA-CA 4 1066419 1066419 single base substitution C T downstream_gene_variant PACA-CA 4 1066419 1066419 single base substitution C T intron_variant PACA-CA 4 1071583 1071583 single base substitution G T intron_variant PACA-CA 4 1071583 1071583 single base substitution G T upstream_gene_variant PACA-CA 4 1072831 1072831 single base substitution T C intron_variant PACA-CA 4 1072953 1072953 single base substitution A G intron_variant PACA-CA 4 1073916 1073916 single base substitution G A intron_variant PACA-CA 4 1074648 1074648 single base substitution C T downstream_gene_variant PACA-CA 4 1074648 1074648 single base substitution C T intron_variant PACA-CA 4 1076127 1076127 single base substitution G T downstream_gene_variant PACA-CA 4 1076127 1076127 single base substitution G T intron_variant PACA-CA 4 1076127 1076127 single base substitution G T upstream_gene_variant PACA-CA 4 1077372 1077373 deletion of <=200bp GC - downstream_gene_variant PACA-CA 4 1077372 1077373 deletion of <=200bp GC - intron_variant PACA-CA 4 1077372 1077373 deletion of <=200bp GC - upstream_gene_variant PACA-CA 4 1077385 1077385 single base substitution C A downstream_gene_variant PACA-CA 4 1077385 1077385 single base substitution C A intron_variant PACA-CA 4 1077385 1077385 single base substitution C A upstream_gene_variant PACA-CA 4 1079896 1079896 single base substitution C G intron_variant PACA-CA 4 1079896 1079896 single base substitution C G upstream_gene_variant PACA-CA 4 1082485 1082485 single base substitution G T downstream_gene_variant PACA-CA 4 1082485 1082485 single base substitution G T intron_variant PACA-CA 4 1084426 1084426 single base substitution C T downstream_gene_variant PACA-CA 4 1084426 1084426 single base substitution C T intron_variant PACA-CA 4 1084801 1084801 single base substitution G A downstream_gene_variant PACA-CA 4 1084801 1084801 single base substitution G A intron_variant PACA-CA 4 1086778 1086827 deletion of <=200bp CAGGGTCTGCGTGCTCAGTGCTGACGCAGCCTGTGGTAGGGCAGAGGCTG - downstream_gene_variant PACA-CA 4 1086778 1086827 deletion of <=200bp CAGGGTCTGCGTGCTCAGTGCTGACGCAGCCTGTGGTAGGGCAGAGGCTG - intron_variant PACA-CA 4 1088078 1088078 single base substitution G A downstream_gene_variant PACA-CA 4 1088078 1088078 single base substitution G A intron_variant PACA-CA 4 1088221 1088221 single base substitution C T downstream_gene_variant PACA-CA 4 1088221 1088221 single base substitution C T intron_variant PACA-CA 4 1088973 1088973 single base substitution C T downstream_gene_variant PACA-CA 4 1088973 1088973 single base substitution C T intron_variant PACA-CA 4 1089239 1089239 single base substitution A C downstream_gene_variant PACA-CA 4 1089239 1089239 single base substitution A C intron_variant PACA-CA 4 1089608 1089608 single base substitution T C downstream_gene_variant PACA-CA 4 1089608 1089608 single base substitution T C intron_variant PACA-CA 4 1090443 1090443 single base substitution G A downstream_gene_variant PACA-CA 4 1090443 1090443 single base substitution G A exon_variant PACA-CA 4 1090443 1090443 single base substitution G A intron_variant PACA-CA 4 1091164 1091164 single base substitution G A downstream_gene_variant PACA-CA 4 1091164 1091164 single base substitution G A intron_variant PACA-CA 4 1092097 1092097 single base substitution T A downstream_gene_variant PACA-CA 4 1092097 1092097 single base substitution T A intron_variant PACA-CA 4 1099308 1099308 single base substitution G A intron_variant PACA-CA 4 1099692 1099692 single base substitution G A intron_variant PACA-CA 4 1100295 1100295 single base substitution A C intron_variant PACA-CA 4 1100795 1100795 single base substitution C T intron_variant PACA-CA 4 1101305 1101305 single base substitution G A intron_variant PACA-CA 4 1108469 1108469 single base substitution C T upstream_gene_variant PACA-CA 4 1110481 1110481 single base substitution G A upstream_gene_variant PAEN-AU 4 1068938 1068938 single base substitution G T intron_variant PAEN-AU 4 1068938 1068938 single base substitution G T upstream_gene_variant PAEN-AU 4 1089791 1089791 single base substitution C T downstream_gene_variant PAEN-AU 4 1089791 1089791 single base substitution C T intron_variant PAEN-AU 4 1104631 1104631 single base substitution G C intron_variant PAEN-IT 4 1091713 1091713 single base substitution C T downstream_gene_variant PAEN-IT 4 1091713 1091713 single base substitution C T intron_variant PBCA-DE 4 1047472 1047472 single base substitution T C downstream_gene_variant PBCA-DE 4 1047482 1047482 single base substitution A C downstream_gene_variant PBCA-DE 4 1047483 1047483 single base substitution T C downstream_gene_variant PBCA-DE 4 1047484 1047484 single base substitution A G downstream_gene_variant PBCA-DE 4 1047512 1047512 single base substitution A C downstream_gene_variant PBCA-DE 4 1047547 1047547 single base substitution C G downstream_gene_variant PBCA-DE 4 1048769 1048769 single base substitution A G downstream_gene_variant PBCA-DE 4 1057902 1057902 single base substitution G T intron_variant PBCA-DE 4 1059327 1059327 single base substitution C A intron_variant PBCA-DE 4 1062407 1062407 single base substitution C T downstream_gene_variant PBCA-DE 4 1062407 1062407 single base substitution C T intron_variant PBCA-DE 4 1072920 1072920 single base substitution A G intron_variant PBCA-DE 4 1075444 1075444 deletion of <=200bp A - downstream_gene_variant PBCA-DE 4 1075444 1075444 deletion of <=200bp A - exon_variant PBCA-DE 4 1075444 1075444 deletion of <=200bp A - intron_variant PBCA-DE 4 1075444 1075444 deletion of <=200bp A - upstream_gene_variant PBCA-DE 4 1086778 1086827 deletion of <=200bp CAGGGTCTGCGTGCTCAGTGCTGACGCAGCCTGTGGTAGGGCAGAGGCTG - downstream_gene_variant PBCA-DE 4 1086778 1086827 deletion of <=200bp CAGGGTCTGCGTGCTCAGTGCTGACGCAGCCTGTGGTAGGGCAGAGGCTG - intron_variant PBCA-DE 4 1090443 1090443 single base substitution G A downstream_gene_variant PBCA-DE 4 1090443 1090443 single base substitution G A exon_variant PBCA-DE 4 1090443 1090443 single base substitution G A intron_variant PBCA-DE 4 1106397 1106397 single base substitution C T intron_variant PBCA-DE 4 1109076 1109076 single base substitution T C upstream_gene_variant PRAD-CA 4 1047484 1047484 single base substitution A G downstream_gene_variant PRAD-CA 4 1047632 1047632 single base substitution A C downstream_gene_variant PRAD-CA 4 1053877 1053877 single base substitution A C intron_variant PRAD-CA 4 1053877 1053877 single base substitution A C upstream_gene_variant PRAD-CA 4 1064101 1064101 single base substitution A G downstream_gene_variant PRAD-CA 4 1064101 1064101 single base substitution A G intron_variant PRAD-CA 4 1064346 1064346 single base substitution A G downstream_gene_variant PRAD-CA 4 1064346 1064346 single base substitution A G intron_variant PRAD-CA 4 1064355 1064355 single base substitution T C downstream_gene_variant PRAD-CA 4 1064355 1064355 single base substitution T C intron_variant PRAD-CA 4 1069240 1069240 single base substitution C T intron_variant PRAD-CA 4 1069240 1069240 single base substitution C T upstream_gene_variant PRAD-CA 4 1071611 1071611 single base substitution T C intron_variant PRAD-CA 4 1071611 1071611 single base substitution T C upstream_gene_variant PRAD-CA 4 1078302 1078302 single base substitution G T downstream_gene_variant PRAD-CA 4 1078302 1078302 single base substitution G T intron_variant PRAD-CA 4 1078302 1078302 single base substitution G T upstream_gene_variant PRAD-CA 4 1089313 1089313 single base substitution T C downstream_gene_variant PRAD-CA 4 1089313 1089313 single base substitution T C intron_variant PRAD-CA 4 1090443 1090443 single base substitution G A downstream_gene_variant PRAD-CA 4 1090443 1090443 single base substitution G A exon_variant PRAD-CA 4 1090443 1090443 single base substitution G A intron_variant PRAD-CA 4 1101472 1101472 single base substitution T C intron_variant PRAD-UK 4 1052105 1052105 single base substitution C A intron_variant PRAD-UK 4 1052105 1052105 single base substitution C A splice_region_variant PRAD-UK 4 1057467 1057467 deletion of <=200bp A - intron_variant PRAD-UK 4 1067494 1067494 single base substitution C T exon_variant PRAD-UK 4 1067494 1067494 single base substitution C T intron_variant PRAD-UK 4 1069359 1069359 single base substitution A T intron_variant PRAD-UK 4 1069359 1069359 single base substitution A T upstream_gene_variant PRAD-UK 4 1073225 1073225 single base substitution C A intron_variant PRAD-UK 4 1074253 1074253 single base substitution C A intron_variant PRAD-UK 4 1089889 1089889 single base substitution C T downstream_gene_variant PRAD-UK 4 1089889 1089889 single base substitution C T intron_variant PRAD-UK 4 1108209 1108209 single base substitution G A upstream_gene_variant PRAD-US 4 1067393 1067393 single base substitution G A 3_prime_UTR_variant PRAD-US 4 1067393 1067393 single base substitution G A exon_variant PRAD-US 4 1067393 1067393 single base substitution G A stop_gained R190* 568C>T RECA-EU 4 1047492 1047492 single base substitution C A downstream_gene_variant RECA-EU 4 1060909 1060909 single base substitution G C downstream_gene_variant RECA-EU 4 1060909 1060909 single base substitution G C intron_variant RECA-EU 4 1063028 1063028 single base substitution T C downstream_gene_variant RECA-EU 4 1063028 1063028 single base substitution T C intron_variant RECA-EU 4 1078368 1078368 single base substitution A G downstream_gene_variant RECA-EU 4 1078368 1078368 single base substitution A G intron_variant RECA-EU 4 1078368 1078368 single base substitution A G upstream_gene_variant RECA-EU 4 1081847 1081847 single base substitution G A intron_variant RECA-EU 4 1082838 1082838 single base substitution T A downstream_gene_variant RECA-EU 4 1082838 1082838 single base substitution T A intron_variant RECA-EU 4 1103898 1103898 single base substitution T A intron_variant RECA-EU 4 1108441 1108441 single base substitution T C upstream_gene_variant RECA-EU 4 1110602 1110602 single base substitution C T upstream_gene_variant SKCA-BR 4 1047334 1047354 deletion of <=200bp AGTCAGCTCCCGGAGGGGAGC - downstream_gene_variant SKCA-BR 4 1047354 1047354 single base substitution C A downstream_gene_variant SKCA-BR 4 1047484 1047484 insertion of <=200bp - AGAGGGGACAGTCAGCTCCCG downstream_gene_variant SKCA-BR 4 1047512 1047512 single base substitution A C downstream_gene_variant SKCA-BR 4 1047532 1047532 single base substitution C A downstream_gene_variant SKCA-BR 4 1047547 1047547 single base substitution C G downstream_gene_variant SKCA-BR 4 1047604 1047604 single base substitution G A downstream_gene_variant SKCA-BR 4 1047624 1047624 single base substitution G A downstream_gene_variant SKCA-BR 4 1047632 1047632 single base substitution A G downstream_gene_variant SKCA-BR 4 1048307 1048307 single base substitution G C downstream_gene_variant SKCA-BR 4 1048715 1048715 single base substitution A G downstream_gene_variant SKCA-BR 4 1048728 1048728 single base substitution T C downstream_gene_variant SKCA-BR 4 1048757 1048757 single base substitution C A downstream_gene_variant SKCA-BR 4 1048763 1048763 single base substitution A G downstream_gene_variant SKCA-BR 4 1048767 1048767 single base substitution A C downstream_gene_variant SKCA-BR 4 1048769 1048769 single base substitution A G downstream_gene_variant SKCA-BR 4 1049072 1049072 single base substitution T C downstream_gene_variant SKCA-BR 4 1052095 1052095 insertion of <=200bp - CG intron_variant SKCA-BR 4 1053407 1053407 single base substitution C T intron_variant SKCA-BR 4 1053407 1053407 single base substitution C T upstream_gene_variant SKCA-BR 4 1053900 1053902 deletion of <=200bp AAG - intron_variant SKCA-BR 4 1053900 1053902 deletion of <=200bp AAG - upstream_gene_variant SKCA-BR 4 1054669 1054669 single base substitution C T intron_variant SKCA-BR 4 1054669 1054669 single base substitution C T upstream_gene_variant SKCA-BR 4 1055301 1055301 single base substitution G A intron_variant SKCA-BR 4 1055301 1055301 single base substitution G A upstream_gene_variant SKCA-BR 4 1055833 1055833 single base substitution G A intron_variant SKCA-BR 4 1055833 1055833 single base substitution G A upstream_gene_variant SKCA-BR 4 1056246 1056246 single base substitution C T intron_variant SKCA-BR 4 1056246 1056246 single base substitution C T upstream_gene_variant SKCA-BR 4 1058032 1058032 single base substitution G A intron_variant SKCA-BR 4 1058944 1058944 single base substitution G A intron_variant SKCA-BR 4 1059129 1059129 single base substitution G A intron_variant SKCA-BR 4 1059944 1059944 single base substitution C T intron_variant SKCA-BR 4 1060185 1060185 single base substitution C T intron_variant SKCA-BR 4 1062755 1062755 single base substitution G A downstream_gene_variant SKCA-BR 4 1062755 1062755 single base substitution G A intron_variant SKCA-BR 4 1063922 1063922 single base substitution G A downstream_gene_variant SKCA-BR 4 1063922 1063922 single base substitution G A intron_variant SKCA-BR 4 1063931 1063931 single base substitution C T downstream_gene_variant SKCA-BR 4 1063931 1063931 single base substitution C T intron_variant SKCA-BR 4 1064101 1064101 single base substitution A G downstream_gene_variant SKCA-BR 4 1064101 1064101 single base substitution A G intron_variant SKCA-BR 4 1065719 1065719 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 1065719 1065719 single base substitution G A downstream_gene_variant SKCA-BR 4 1065719 1065719 single base substitution G A intron_variant SKCA-BR 4 1068233 1068233 single base substitution C T intron_variant SKCA-BR 4 1068233 1068233 single base substitution C T upstream_gene_variant SKCA-BR 4 1068249 1068249 single base substitution C T intron_variant SKCA-BR 4 1068249 1068249 single base substitution C T upstream_gene_variant SKCA-BR 4 1068839 1068839 single base substitution C T intron_variant SKCA-BR 4 1068839 1068839 single base substitution C T upstream_gene_variant SKCA-BR 4 1069539 1069539 single base substitution C T intron_variant SKCA-BR 4 1069539 1069539 single base substitution C T upstream_gene_variant SKCA-BR 4 1070642 1070642 single base substitution C T intron_variant SKCA-BR 4 1070642 1070642 single base substitution C T upstream_gene_variant SKCA-BR 4 1072160 1072160 single base substitution C T intron_variant SKCA-BR 4 1072160 1072160 single base substitution C T upstream_gene_variant SKCA-BR 4 1072726 1072726 single base substitution T C intron_variant SKCA-BR 4 1075598 1075598 single base substitution C T downstream_gene_variant SKCA-BR 4 1075598 1075598 single base substitution C T exon_variant SKCA-BR 4 1075598 1075598 single base substitution C T intron_variant SKCA-BR 4 1075598 1075598 single base substitution C T upstream_gene_variant SKCA-BR 4 1075771 1075771 single base substitution C T downstream_gene_variant SKCA-BR 4 1075771 1075771 single base substitution C T intron_variant SKCA-BR 4 1075771 1075771 single base substitution C T upstream_gene_variant SKCA-BR 4 1077495 1077495 single base substitution C T downstream_gene_variant SKCA-BR 4 1077495 1077495 single base substitution C T intron_variant SKCA-BR 4 1077495 1077495 single base substitution C T upstream_gene_variant SKCA-BR 4 1079067 1079067 single base substitution C T downstream_gene_variant SKCA-BR 4 1079067 1079067 single base substitution C T intron_variant SKCA-BR 4 1079067 1079067 single base substitution C T upstream_gene_variant SKCA-BR 4 1079943 1079943 single base substitution C T intron_variant SKCA-BR 4 1079943 1079943 single base substitution C T upstream_gene_variant SKCA-BR 4 1080167 1080167 single base substitution G A intron_variant SKCA-BR 4 1080167 1080167 single base substitution G A upstream_gene_variant SKCA-BR 4 1081618 1081618 single base substitution A C intron_variant SKCA-BR 4 1081862 1081862 single base substitution G A intron_variant SKCA-BR 4 1084600 1084600 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 1084600 1084600 single base substitution C T downstream_gene_variant SKCA-BR 4 1084600 1084600 single base substitution C T exon_variant SKCA-BR 4 1084600 1084600 single base substitution C T synonymous_variant R91R 273G>A SKCA-BR 4 1085461 1085461 single base substitution G A downstream_gene_variant SKCA-BR 4 1085461 1085461 single base substitution G A intron_variant SKCA-BR 4 1086121 1086121 single base substitution G A downstream_gene_variant SKCA-BR 4 1086121 1086121 single base substitution G A intron_variant SKCA-BR 4 1086245 1086245 single base substitution C T downstream_gene_variant SKCA-BR 4 1086245 1086245 single base substitution C T intron_variant SKCA-BR 4 1086764 1086764 single base substitution A G downstream_gene_variant SKCA-BR 4 1086764 1086764 single base substitution A G intron_variant SKCA-BR 4 1087617 1087617 single base substitution C A downstream_gene_variant SKCA-BR 4 1087617 1087617 single base substitution C A intron_variant SKCA-BR 4 1087617 1087617 single base substitution C A missense_variant Q144H 432G>T SKCA-BR 4 1087699 1087699 single base substitution C T downstream_gene_variant SKCA-BR 4 1087699 1087699 single base substitution C T intron_variant SKCA-BR 4 1087699 1087699 single base substitution C T missense_variant R117K 350G>A SKCA-BR 4 1088197 1088197 single base substitution T G downstream_gene_variant SKCA-BR 4 1088197 1088197 single base substitution T G intron_variant SKCA-BR 4 1089077 1089077 single base substitution T C downstream_gene_variant SKCA-BR 4 1089077 1089077 single base substitution T C intron_variant SKCA-BR 4 1089647 1089647 single base substitution C G downstream_gene_variant SKCA-BR 4 1089647 1089647 single base substitution C G intron_variant SKCA-BR 4 1090423 1090423 single base substitution T C downstream_gene_variant SKCA-BR 4 1090423 1090423 single base substitution T C exon_variant SKCA-BR 4 1090423 1090423 single base substitution T C intron_variant SKCA-BR 4 1090682 1090682 single base substitution C T downstream_gene_variant SKCA-BR 4 1090682 1090682 single base substitution C T intron_variant SKCA-BR 4 1094245 1094245 single base substitution G A downstream_gene_variant SKCA-BR 4 1094245 1094245 single base substitution G A intron_variant SKCA-BR 4 1094245 1094245 single base substitution G A upstream_gene_variant SKCA-BR 4 1096153 1096153 single base substitution G A intron_variant SKCA-BR 4 1096153 1096153 single base substitution G A upstream_gene_variant SKCA-BR 4 1096158 1096158 single base substitution C G intron_variant SKCA-BR 4 1096158 1096158 single base substitution C G upstream_gene_variant SKCA-BR 4 1096808 1096808 single base substitution A C intron_variant SKCA-BR 4 1096808 1096808 single base substitution A C upstream_gene_variant SKCA-BR 4 1099208 1099208 single base substitution C T intron_variant SKCA-BR 4 1101473 1101473 single base substitution C T intron_variant SKCA-BR 4 1105314 1105314 single base substitution C T intron_variant SKCA-BR 4 1105332 1105332 single base substitution C T intron_variant SKCA-BR 4 1108793 1108793 single base substitution C T upstream_gene_variant SKCA-BR 4 1110770 1110770 single base substitution C T upstream_gene_variant SKCM-US 4 1084575 1084575 single base substitution C T 3_prime_UTR_variant SKCM-US 4 1084575 1084575 single base substitution C T downstream_gene_variant SKCM-US 4 1084575 1084575 single base substitution C T exon_variant SKCM-US 4 1084575 1084575 single base substitution C T missense_variant E100K 298G>A SKCM-US 4 1090587 1090587 single base substitution C T 3_prime_UTR_variant SKCM-US 4 1090587 1090587 single base substitution C T downstream_gene_variant SKCM-US 4 1090587 1090587 single base substitution C T exon_variant SKCM-US 4 1090587 1090587 single base substitution C T missense_variant S71N 212G>A SKCM-US 4 1102144 1102144 single base substitution A G exon_variant SKCM-US 4 1102144 1102144 single base substitution A G intron_variant SKCM-US 4 1102144 1102144 single base substitution A G missense_variant L53S 158T>C SKCM-US 4 1107151 1107151 single base substitution G A exon_variant SKCM-US 4 1107151 1107151 single base substitution G A synonymous_variant L34L 102C>T STAD-US 4 1066733 1066733 single base substitution C T 3_prime_UTR_variant STAD-US 4 1066733 1066733 single base substitution C T intron_variant STAD-US 4 1066733 1066733 single base substitution C T missense_variant D275N 823G>A STAD-US 4 1067437 1067437 single base substitution G A 3_prime_UTR_variant STAD-US 4 1067437 1067437 single base substitution G A exon_variant STAD-US 4 1067437 1067437 single base substitution G A missense_variant A175V 524C>T STAD-US 4 1075367 1075368 deletion of <=200bp TT - 3_prime_UTR_variant STAD-US 4 1075367 1075368 deletion of <=200bp TT - downstream_gene_variant STAD-US 4 1075367 1075368 deletion of <=200bp TT - exon_variant STAD-US 4 1075367 1075368 deletion of <=200bp TT - frameshift_variant KS134 STAD-US 4 1075367 1075368 deletion of <=200bp TT - intron_variant UCEC-US 4 1066796 1066796 single base substitution G C 3_prime_UTR_variant UCEC-US 4 1066796 1066796 single base substitution G C intron_variant UCEC-US 4 1066796 1066796 single base substitution G C missense_variant P254A 760C>G UCEC-US 4 1067393 1067393 single base substitution G A 3_prime_UTR_variant UCEC-US 4 1067393 1067393 single base substitution G A exon_variant UCEC-US 4 1067393 1067393 single base substitution G A stop_gained R190* 568C>T UCEC-US 4 1067427 1067427 single base substitution C T 3_prime_UTR_variant UCEC-US 4 1067427 1067427 single base substitution C T exon_variant UCEC-US 4 1067427 1067427 single base substitution C T synonymous_variant A178A 534G>A UCEC-US 4 1073454 1073454 single base substitution G T 3_prime_UTR_variant UCEC-US 4 1073454 1073454 single base substitution G T exon_variant UCEC-US 4 1073454 1073454 single base substitution G T intron_variant UCEC-US 4 1073454 1073454 single base substitution G T missense_variant L163I 487C>A UCEC-US 4 1073468 1073468 single base substitution G A 3_prime_UTR_variant UCEC-US 4 1073468 1073468 single base substitution G A exon_variant UCEC-US 4 1073468 1073468 single base substitution G A intron_variant UCEC-US 4 1073468 1073468 single base substitution G A missense_variant S158L 473C>T UCEC-US 4 1075399 1075399 single base substitution G T 3_prime_UTR_variant UCEC-US 4 1075399 1075399 single base substitution G T downstream_gene_variant UCEC-US 4 1075399 1075399 single base substitution G T exon_variant UCEC-US 4 1075399 1075399 single base substitution G T intron_variant UCEC-US 4 1075399 1075399 single base substitution G T stop_gained S124* 371C>A UCEC-US 4 1075399 1075399 single base substitution G T upstream_gene_variant UCEC-US 4 1079723 1079723 single base substitution G T 3_prime_UTR_variant UCEC-US 4 1079723 1079723 single base substitution G T exon_variant UCEC-US 4 1079723 1079723 single base substitution G T missense_variant S108Y 323C>A UCEC-US 4 1079723 1079723 single base substitution G T upstream_gene_variant UCEC-US 4 1107171 1107171 single base substitution C T exon_variant UCEC-US 4 1107171 1107171 single base substitution C T missense_variant V28M 82G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2521243 COSM5886357 c.575-7C>T p.? Unknown 4:1073200-1073200 - TCGA-DD-A4NV-01 COSM4916481 c.31T>A p.F11I Substitution - Missense 4:1113434-1113434 - TCGA-AX-A05Z-01 COSM1049798 c.568C>T p.R190* Substitution - Nonsense 4:1073605-1073605 - CN-AML-08-T COSM3760327 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - CN-AML-08-T COSM3760329 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - CSCC-18-T COSM4541256 c.296G>A p.R99K Substitution - Missense 4:1090789-1090789 - PD5960a COSM5778576 c.751A>G p.K251E Substitution - Missense 4:1073017-1073017 - Sample_1 COSM3760327 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - pfg166T COSM4748417 c.460G>A p.D154N Substitution - Missense 4:1081423-1081423 - PDA_058 COSM5000997 c.841G>T p.A281S Substitution - Missense 4:1072927-1072927 - CSCC-1-T COSM4483277 c.268C>T p.H90Y Substitution - Missense 4:1090817-1090817 - STC252 COSM5060050 c.234G>A p.R78R Substitution - coding silent 4:1096777-1096777 - HT29 COSM1670839 c.566G>A p.G189E Substitution - Missense 4:1073607-1073607 - H358 COSM1194137 c.184A>T p.I62F Substitution - Missense 4:1096827-1096827 - pfg166T COSM4748416 c.460G>A p.D154N Substitution - Missense 4:1081423-1081423 - TCGA-EE-A3J3-06 COSM3916943 c.102C>T p.L34L Substitution - coding silent 4:1113363-1113363 - RK177_C01 COSM1633405 c.118A>C p.N40H Substitution - Missense 4:1108396-1108396 - TCGA-BP-4159-01 COSM3365450 c.426C>T p.H142H Substitution - coding silent 4:1081457-1081457 - TCGA-CG-5733-01 COSM4121161 c.823G>A p.D275N Substitution - Missense 4:1072945-1072945 - TCGA-DM-A28H-01 COSM5170926 c.562G>A p.D188N Substitution - Missense 4:1073611-1073611 - LUAD-NYU696 COSM376074 c.129G>A p.L43L Substitution - coding silent 4:1108385-1108385 - PD5960a COSM5778577 c.698A>G p.*233* Substitution - coding silent 4:1073017-1073017 - TCGA-D1-A163-01 COSM1049980 c.82G>A p.V28M Substitution - Missense 4:1113383-1113383 - TCGA-AP-A0LM-01 COSM1049800 c.534G>A p.A178A Substitution - coding silent 4:1073639-1073639 - SNUH_G76_S1 COSM4417239 c.110-3T>C p.? Unknown 4:1108407-1108407 - CN-AML-NR-08-Dx COSM3760327 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - TCGA-B2-3924-01 COSM480725 c.460G>C p.D154H Substitution - Missense 4:1081423-1081423 - 070T COSM1730553 c.651C>T p.V217V Substitution - coding silent 4:1073117-1073117 - 1T COSM108376 c.786C>T p.A262A Substitution - coding silent 4:1072982-1072982 - 8044424 COSM3392654 c.500C>T p.P167L Substitution - Missense 4:1079653-1079653 - HCC66T COSM1618237 c.303+3A>T p.? Unknown 4:1090779-1090779 - TCGA-BS-A0U7-01 COSM1049797 c.604A>G p.I202V Substitution - Missense 4:1073164-1073164 - TCGA-AX-A05Z-01 COSM1049799 c.568C>T p.R190* Substitution - Nonsense 4:1073605-1073605 - TCGA-AG-A011-01 COSM290017 c.454G>T p.A152S Substitution - Missense 4:1081429-1081429 - STC252 COSM5060048 c.234G>A p.R78R Substitution - coding silent 4:1096777-1096777 - TCGA-AZ-6599-01 COSM5141818 c.838C>T p.P280S Substitution - Missense 4:1072930-1072930 - B81-2 COSM1730553 c.651C>T p.V217V Substitution - coding silent 4:1073117-1073117 - SNUH_G10_S1 COSM3760329 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - TCGA-CM-4743-01 COSM1426200 c.492_493delTC p.P165fs*4 Deletion - Frameshift 4:1079660-1079661 - SW48 COSM4656398 c.75C>T p.C25C Substitution - coding silent 4:1113390-1113390 - sysucc-880T COSM5463303 c.363-10A>G p.? Unknown 4:1081629-1081629 - B81-2 COSM1730554 c.598C>T p.H200Y Substitution - Missense 4:1073117-1073117 - sysucc-880T COSM5463304 c.363-10A>G p.? Unknown 4:1081629-1081629 - TCGA-F4-6570-01 COSM1426236 c.335C>A p.S112* Substitution - Nonsense 4:1085923-1085923 - LUAD-S01315 COSM345578 c.514G>C p.E172Q Substitution - Missense 4:1073659-1073659 - 35M COSM5582379 c.186C>T p.I62I Substitution - coding silent 4:1096825-1096825 - TCGA-EE-A20F-06 COSM3598948 c.298G>A p.E100K Substitution - Missense 4:1090787-1090787 - TCGA-D1-A163-01 COSM1049981 c.82G>A p.V28M Substitution - Missense 4:1113383-1113383 - RK186_C01 COSM3767644 c.153A>G p.T51T Substitution - coding silent 4:1108361-1108361 - Patient_4_Relapse COSM5414963 c.455C>G p.A152G Substitution - Missense 4:1081428-1081428 - 587376 COSM1223964 c.349G>T p.E117* Substitution - Nonsense 4:1085909-1085909 - TCGA-BH-A1F5-01 COSM1485595 c.46A>C p.R16R Substitution - coding silent 4:1113419-1113419 - Patient_4_Relapse COSM5414964 c.455C>G p.A152G Substitution - Missense 4:1081428-1081428 - TCGA-D1-A17Q-01 COSM1049858 c.323C>A p.S108Y Substitution - Missense 4:1085935-1085935 - SNUH_G76_S1 COSM4417241 c.110-3T>C p.? Unknown 4:1108407-1108407 - TCGA-DD-A4NV-01 COSM4916479 c.31T>A p.F11I Substitution - Missense 4:1113434-1113434 - TCGA-AA-A010-01 COSM284627 c.473C>T p.S158L Substitution - Missense 4:1079680-1079680 - 8044424 COSM3392653 c.500C>T p.P167L Substitution - Missense 4:1079653-1079653 - LUAD-NYU696 COSM376075 c.129G>A p.L43L Substitution - coding silent 4:1108385-1108385 - TCGA-KK-A59V-01 COSM1049798 c.568C>T p.R190* Substitution - Nonsense 4:1073605-1073605 - 587376 COSM1223963 c.349G>T p.E117* Substitution - Nonsense 4:1085909-1085909 - PTC-7C COSM3760327 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - LAU108 COSM233272 c.499C>T p.P167S Substitution - Missense 4:1079654-1079654 - LUAD-YINHD COSM350948 c.680G>T p.R227L Substitution - Missense 4:1073035-1073035 - TCGA-EK-A2PG-01 COSM4819745 c.259C>G p.Q87E Substitution - Missense 4:1090826-1090826 - LUAD-S01315 COSM345577 c.514G>C p.E172Q Substitution - Missense 4:1073659-1073659 - sysucc-1188T COSM4417239 c.110-3T>C p.? Unknown 4:1108407-1108407 - B81-2-Tumor COSM1730553 c.651C>T p.V217V Substitution - coding silent 4:1073117-1073117 - TCGA-NH-A50V-01 COSM3006239 c.90C>T p.C30C Substitution - coding silent 4:1113375-1113375 - HT-29 COSM1670839 c.566G>A p.G189E Substitution - Missense 4:1073607-1073607 - TCGA-NH-A50V-01 COSM3006237 c.90C>T p.C30C Substitution - coding silent 4:1113375-1113375 - TCGA-BR-6452-01 COSM4121162 c.524C>T p.A175V Substitution - Missense 4:1073649-1073649 - LUAD-S01345 COSM405078 c.657_658delCA p.G221fs*30 Deletion - Frameshift 4:1073110-1073111 - PTC-7C COSM3760329 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - RK177_C01 COSM1633403 c.118A>C p.N40H Substitution - Missense 4:1108396-1108396 - TCGA-F4-6570-01 COSM1426237 c.335C>A p.S112* Substitution - Nonsense 4:1085923-1085923 - 070T COSM1730554 c.598C>T p.H200Y Substitution - Missense 4:1073117-1073117 - TCGA-BR-6452-01 COSM4121163 c.524C>T p.A175V Substitution - Missense 4:1073649-1073649 - TCGA-DM-A285-01 COSM3760327 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - LUAD-YINHD COSM350947 c.733G>T p.G245W Substitution - Missense 4:1073035-1073035 - TCGA-LG-A6GG-01 COSM4939500 c.248T>A p.I83N Substitution - Missense 4:1090837-1090837 - YUPEET COSM1694064 c.542_543CC>TT p.S181F Substitution - Missense 4:1073630-1073631 - TCGA-KK-A59V-01 COSM1049799 c.568C>T p.R190* Substitution - Nonsense 4:1073605-1073605 - LUAD-S01345 COSM405079 c.604_605delCA p.Q202fs*8 Deletion - Frameshift 4:1073110-1073111 - B81-2-Tumor COSM1730554 c.598C>T p.H200Y Substitution - Missense 4:1073117-1073117 - HT-29 COSM1670840 c.566G>A p.G189E Substitution - Missense 4:1073607-1073607 - TCGA-CA-6717-01 COSM3696381 c.501G>A p.P167P Substitution - coding silent 4:1079652-1079652 - T12 COSM236852 c.592G>A p.V198M Substitution - Missense 4:1073123-1073123 - TCGA-EK-A2PG-01 COSM4819744 c.259C>G p.Q87E Substitution - Missense 4:1090826-1090826 - TCGA-AP-A056-01 COSM284627 c.473C>T p.S158L Substitution - Missense 4:1079680-1079680 - TCGA-B2-3924-01 COSM480726 c.460G>C p.D154H Substitution - Missense 4:1081423-1081423 - TCGA-AP-A056-01 COSM1049850 c.371C>A p.S124* Substitution - Nonsense 4:1081611-1081611 - TCGA-EE-A2GI-06 COSM3598965 c.212G>A p.S71N Substitution - Missense 4:1096799-1096799 - 35M COSM5582381 c.186C>T p.I62I Substitution - coding silent 4:1096825-1096825 - TCGA-BG-A2AE-01 COSM1049796 c.760C>G p.P254A Substitution - Missense 4:1073008-1073008 - Sample_1 COSM3760329 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - TCGA-AP-A056-01 COSM284628 c.473C>T p.S158L Substitution - Missense 4:1079680-1079680 - SNU-C4 COSM4653756 c.782G>T p.R261M Substitution - Missense 4:1072986-1072986 - TCGA-DM-A285-01 COSM3760329 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - CN-AML-NR-08-Dx COSM3760329 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - PD11743a COSM5790168 c.39G>A p.P13P Substitution - coding silent 4:1113426-1113426 - TCGA-BH-A1F5-01 COSM1485597 c.46A>C p.R16R Substitution - coding silent 4:1113419-1113419 - LAU108 COSM233271 c.499C>T p.P167S Substitution - Missense 4:1079654-1079654 - SNUH_G10_S1 COSM3760327 c.174C>T p.T58T Substitution - coding silent 4:1096837-1096837 - TCGA-EE-A2GI-06 COSM3598963 c.212G>A p.S71N Substitution - Missense 4:1096799-1096799 - RK186_C01 COSM3767646 c.153A>G p.T51T Substitution - coding silent 4:1108361-1108361 - HCC66T COSM1618236 c.303+3A>T p.? Unknown 4:1090779-1090779 - TCGA-LG-A6GG-01 COSM4939499 c.248T>A p.I83N Substitution - Missense 4:1090837-1090837 - SC_9080 COSM5567157 c.25C>A p.R9S Substitution - Missense 4:1113440-1113440 - CSCC-18-T COSM4541255 c.296G>A p.R99K Substitution - Missense 4:1090789-1090789 - SW48 COSM4656396 c.75C>T p.C25C Substitution - coding silent 4:1113390-1113390 - TCGA-EE-A20F-06 COSM3598949 c.298G>A p.E100K Substitution - Missense 4:1090787-1090787 - HCC66 COSM1618236 c.303+3A>T p.? Unknown 4:1090779-1090779 - HT29 COSM1670840 c.566G>A p.G189E Substitution - Missense 4:1073607-1073607 - SC_9080 COSM5567159 c.25C>A p.R9S Substitution - Missense 4:1113440-1113440 - TCGA-DM-A28H-01 COSM5170925 c.562G>A p.D188N Substitution - Missense 4:1073611-1073611 - HCC66 COSM1618237 c.303+3A>T p.? Unknown 4:1090779-1090779 - H358 COSM1194139 c.184A>T p.I62F Substitution - Missense 4:1096827-1096827 - TCGA-AG-A011-01 COSM290018 c.454G>T p.A152S Substitution - Missense 4:1081429-1081429 - TCGA-B5-A11E-01 COSM1049848 c.487C>A p.L163I Substitution - Missense 4:1079666-1079666 - sysucc-1188T COSM4417241 c.110-3T>C p.? Unknown 4:1108407-1108407 - TCGA-B5-A11E-01 COSM1049847 c.487C>A p.L163I Substitution - Missense 4:1079666-1079666 - TCGA-BP-4159-01 COSM3365451 c.426C>T p.H142H Substitution - coding silent 4:1081457-1081457 - TCGA-CM-4743-01 COSM1426201 c.492_493delTC p.P165fs*4 Deletion - Frameshift 4:1079660-1079661 - TCGA-D1-A17Q-01 COSM1049859 c.323C>A p.S108Y Substitution - Missense 4:1085935-1085935 - CSCC-1-T COSM4483276 c.268C>T p.H90Y Substitution - Missense 4:1090817-1090817 - TCGA-AP-A056-01 COSM1049849 c.371C>A p.S124* Substitution - Nonsense 4:1081611-1081611 - TCGA-CA-6717-01 COSM3696382 c.501G>A p.P167P Substitution - coding silent 4:1079652-1079652 - YUPEET COSM1694063 c.542_543CC>TT p.S181F Substitution - Missense 4:1073630-1073631 - TCGA-AA-A010-01 COSM284628 c.473C>T p.S158L Substitution - Missense 4:1079680-1079680 - TCGA-EE-A3J3-06 COSM3916945 c.102C>T p.L34L Substitution - coding silent 4:1113363-1113363 - 587376 COSM1223962 c.889T>G p.F297V Substitution - Missense 4:1072879-1072879 - TCGA-ER-A19P-06 COSM3599003 c.158T>C p.L53S Substitution - Missense 4:1108356-1108356 - T12 COSM236853 c.645G>A p.E215E Substitution - coding silent 4:1073123-1073123 - PD11743a COSM5790166 c.39G>A p.P13P Substitution - coding silent 4:1113426-1113426 - TCGA-ER-A19P-06 COSM3599001 c.158T>C p.L53S Substitution - Missense 4:1108356-1108356 - TCGA-AP-A0LM-01 COSM1049801 c.534G>A p.A178A Substitution - coding silent 4:1073639-1073639 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.248290 4p16.3 612041

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L53S c.158T>C 4 1102144 CM A T IntronicSNV . c.171+214T>A 4 1101917 CLL C A Missense p.A152S c.454G>T 4 1075217 COREAD C A Missense p.R169I c.506G>T 4 1073435 LUAD C A Missense p.W204L c.611G>T 4 1066945 LUAD C G IntronicSNV . c.171+3396G>C 4 1098735 CLL C G Missense p.D154H c.460G>C 4 1075211 RCCC C T IntronicSNV . c.172-4335G>A 4 1094962 HC C T IntronicSNV . c.246+113G>A 4 1090440 CM C T Missense p.E100K c.298G>A 4 1084575 CM C T Missense p.M1I c.3G>A 4 1107250 CM C T Missense p.S71N c.212G>A 4 1090587 CM C T Missense p.V28M c.82G>A 4 1107171 UCEC G A IntronicSNV . c.246+1587C>T 4 1088966 CM G A Missense p.T248I c.743C>T 4 1066813 LUAD G A Synonymous p.H142H c.426C>T 4 1075245 RCCC G A Synonymous p.L34L c.102C>T 4 1107151 CM G C Missense p.P254A c.760C>G 4 1066796 UCEC G C Missense p.S164C c.491C>G 4 1073450 LUAD T G Synonymous p.R16R c.46A>C 4 1107207 BRCA