Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 21 44296862 44296862 + Silent SNP G G C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr21:44296862G>C c.105C>G c.(103-105)ctC>ctG p.L35L BLCA 21 44272389 44272389 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr21:44272389G>A c.1021C>T c.(1021-1023)Cgt>Tgt p.R341C BLCA 21 44274683 44274683 + Silent SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr21:44274683G>C c.780C>G c.(778-780)ctC>ctG p.L260L BRCA 21 44270219 44270219 + Silent SNP C C T TCGA-AC-A5XU-01A-11D-A28B-09 TCGA-AC-A5XU-10A-01D-A28E-09 g.chr21:44270219C>T c.1179G>A c.(1177-1179)ccG>ccA p.P393P BRCA 21 44270341 44270342 + Frame_Shift_Ins INS - - A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 g.chr21:44270341_44270342insA c.1056_1057insT c.(1054-1059)ggcgcafs p.A353fs BRCA 21 44270347 44270348 + Frame_Shift_Ins INS - - A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 g.chr21:44270347_44270348insA c.1050_1051insT c.(1048-1053)tctgccfs p.A351fs BRCA 21 44279796 44279796 + Silent SNP G G A TCGA-E2-A15R-01A-11D-A10Y-09 TCGA-E2-A15R-10A-01D-A110-09 g.chr21:44279796G>A c.603C>T c.(601-603)ccC>ccT p.P201P BRCA 21 44282454 44282454 + Missense_Mutation SNP C C A TCGA-A2-A25C-01A-11D-A167-09 TCGA-A2-A25C-10A-01D-A167-09 g.chr21:44282454C>A c.504G>T c.(502-504)aaG>aaT p.K168N BRCA 21 44299550 44299550 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 g.chr21:44299550C>G c.56G>C c.(55-57)gGc>gCc p.G19A CESC 21 44273714 44273714 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr21:44273714G>A c.940C>T c.(940-942)Ctg>Ttg p.L314L CESC 21 44274710 44274710 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr21:44274710G>A c.753C>T c.(751-753)ttC>ttT p.F251F COAD 21 44270236 44270236 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr21:44270236G>A c.1162C>T c.(1162-1164)Cgg>Tgg p.R388W COAD 21 44270302 44270302 + Missense_Mutation SNP C C T TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr21:44270302C>T c.1096G>A c.(1096-1098)Gac>Aac p.D366N COAD 21 44270306 44270306 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr21:44270306C>T c.1092G>A c.(1090-1092)acG>acA p.T364T COAD 21 44275794 44275794 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr21:44275794delG c.724delC c.(724-726)cagfs p.Q242fs COAD 21 44279795 44279795 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr21:44279795C>T c.604G>A c.(604-606)Ggg>Agg p.G202R COAD 21 44293719 44293719 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr21:44293719C>T c.238G>A c.(238-240)Gat>Aat p.D80N COAD 21 44293771 44293771 + Silent SNP A A T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr21:44293771A>T c.186T>A c.(184-186)ggT>ggA p.G62G COADREAD 21 44270236 44270236 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr21:44270236G>A c.1162C>T c.(1162-1164)Cgg>Tgg p.R388W COADREAD 21 44270302 44270302 + Missense_Mutation SNP C C T TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr21:44270302C>T c.1096G>A c.(1096-1098)Gac>Aac p.D366N COADREAD 21 44270306 44270306 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr21:44270306C>T c.1092G>A c.(1090-1092)acG>acA p.T364T COADREAD 21 44275794 44275794 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr21:44275794delG c.724delC c.(724-726)cagfs p.Q242fs COADREAD 21 44279795 44279795 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr21:44279795C>T c.604G>A c.(604-606)Ggg>Agg p.G202R COADREAD 21 44293684 44293684 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:44293684T>C c.273A>G c.(271-273)aaA>aaG p.K91K COADREAD 21 44293719 44293719 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr21:44293719C>T c.238G>A c.(238-240)Gat>Aat p.D80N COADREAD 21 44293771 44293771 + Silent SNP A A T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr21:44293771A>T c.186T>A c.(184-186)ggT>ggA p.G62G DLBC 21 44273691 44273691 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr21:44273691G>A c.963C>T c.(961-963)ggC>ggT p.G321G ESCA 21 44275838 44275838 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr21:44275838C>T c.680G>A c.(679-681)tGt>tAt p.C227Y ESCA 21 44283655 44283655 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr21:44283655C>T c.348G>A c.(346-348)aaG>aaA p.K116K GBM 21 44296865 44296865 + Silent SNP G G A TCGA-06-2567-01A-01D-1494-08 TCGA-06-2567-10A-01D-1494-08 g.chr21:44296865G>A c.102C>T c.(100-102)agC>agT p.S34S GBMLGG 21 44283614 44283614 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:44283614G>A c.389C>T c.(388-390)tCg>tTg p.S130L GBMLGG 21 44296865 44296865 + Silent SNP G G A TCGA-06-2567-01A-01D-1494-08 TCGA-06-2567-10A-01D-1494-08 g.chr21:44296865G>A c.102C>T c.(100-102)agC>agT p.S34S HNSC 21 44274700 44274700 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr21:44274700C>G c.763G>C c.(763-765)Gag>Cag p.E255Q HNSC 21 44299516 44299516 + Splice_Site SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr21:44299516C>A c.e1+1 HNSC 21 44299570 44299570 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 g.chr21:44299570C>G c.36G>C c.(34-36)caG>caC p.Q12H LGG 21 44283614 44283614 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:44283614G>A c.389C>T c.(388-390)tCg>tTg p.S130L LIHC 21 44272435 44272435 + Splice_Site SNP C C A TCGA-2Y-A9GY-01A-11D-A382-10 TCGA-2Y-A9GY-10A-01D-A385-10 g.chr21:44272435C>A c.e10-1 LIHC 21 44274711 44274711 + Missense_Mutation SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr21:44274711A>G c.752T>C c.(751-753)tTc>tCc p.F251S LIHC 21 44282502 44282502 + Silent SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr21:44282502A>G c.456T>C c.(454-456)gcT>gcC p.A152A LUAD 21 44272435 44272435 + Splice_Site SNP C C T TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr21:44272435C>T c.e10-1 LUAD 21 44283572 44283572 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr21:44283572T>G c.431A>C c.(430-432)cAc>cCc p.H144P LUSC 21 44273748 44273748 + Silent SNP C C T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr21:44273748C>T c.906G>A c.(904-906)ggG>ggA p.G302G LUSC 21 44293671 44293671 + Missense_Mutation SNP G G C TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr21:44293671G>C c.286C>G c.(286-288)Ctg>Gtg p.L96V LUSC 21 44296822 44296822 + Missense_Mutation SNP C C T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr21:44296822C>T c.145G>A c.(145-147)Gaa>Aaa p.E49K OV 21 44270236 44270236 + Missense_Mutation SNP G G A TCGA-24-1603-01A-01W-0551-08 TCGA-24-1603-10A-01W-0551-08 g.chr21:44270236G>A c.1162C>T c.(1162-1164)Cgg>Tgg p.R388W PAAD 21 44272427 44272427 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:44272427G>A c.983C>T c.(982-984)cCt>cTt p.P328L PRAD 21 44283564 44283564 + Missense_Mutation SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 g.chr21:44283564T>C c.439A>G c.(439-441)Atg>Gtg p.M147V READ 21 44293684 44293684 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:44293684T>C c.273A>G c.(271-273)aaA>aaG p.K91K SKCM 21 44282451 44282451 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr21:44282451G>A c.507C>T c.(505-507)atC>atT p.I169I SKCM 21 44283566 44283566 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr21:44283566G>A c.437C>T c.(436-438)tCt>tTt p.S146F SKCM 21 44283681 44283681 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr21:44283681G>A c.322C>T c.(322-324)Ctg>Ttg p.L108L

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 21 44274710 44274710 single base substitution G C downstream_gene_variant BLCA-CN 21 44274710 44274710 single base substitution G C exon_variant BLCA-CN 21 44274710 44274710 single base substitution G C missense_variant F251L 753C>G BLCA-US 21 44272389 44272389 single base substitution G A downstream_gene_variant BLCA-US 21 44272389 44272389 single base substitution G A exon_variant BLCA-US 21 44272389 44272389 single base substitution G A missense_variant R341C 1021C>T BLCA-US 21 44274683 44274683 single base substitution G C downstream_gene_variant BLCA-US 21 44274683 44274683 single base substitution G C exon_variant BLCA-US 21 44274683 44274683 single base substitution G C synonymous_variant L260L 780C>G BRCA-EU 21 44258976 44258976 single base substitution C T downstream_gene_variant BRCA-EU 21 44259258 44259258 single base substitution C A downstream_gene_variant BRCA-EU 21 44260059 44260059 single base substitution G A downstream_gene_variant BRCA-EU 21 44261475 44261475 single base substitution C T downstream_gene_variant BRCA-EU 21 44262753 44262753 single base substitution G C downstream_gene_variant BRCA-EU 21 44262893 44262893 single base substitution G C downstream_gene_variant BRCA-EU 21 44262986 44262986 single base substitution G A downstream_gene_variant BRCA-EU 21 44263723 44263723 single base substitution G A intron_variant BRCA-EU 21 44264215 44264215 single base substitution C T intron_variant BRCA-EU 21 44264244 44264244 single base substitution C T intron_variant BRCA-EU 21 44266835 44266835 single base substitution G C downstream_gene_variant BRCA-EU 21 44266835 44266835 single base substitution G C intron_variant BRCA-EU 21 44268214 44268214 single base substitution G C downstream_gene_variant BRCA-EU 21 44268214 44268214 single base substitution G C intron_variant BRCA-EU 21 44268740 44268740 single base substitution C G downstream_gene_variant BRCA-EU 21 44268740 44268740 single base substitution C G intron_variant BRCA-EU 21 44269843 44269843 single base substitution G A 3_prime_UTR_variant BRCA-EU 21 44269843 44269843 single base substitution G A downstream_gene_variant BRCA-EU 21 44269843 44269843 single base substitution G A exon_variant BRCA-EU 21 44269843 44269843 single base substitution G A intron_variant BRCA-EU 21 44270896 44270896 single base substitution G T downstream_gene_variant BRCA-EU 21 44270896 44270896 single base substitution G T intron_variant BRCA-EU 21 44275674 44275674 single base substitution A G downstream_gene_variant BRCA-EU 21 44275674 44275674 single base substitution A G intron_variant BRCA-EU 21 44276079 44276079 single base substitution G A intron_variant BRCA-EU 21 44276958 44276958 single base substitution A G intron_variant BRCA-EU 21 44277765 44277765 single base substitution G A downstream_gene_variant BRCA-EU 21 44277765 44277765 single base substitution G A intron_variant BRCA-EU 21 44279303 44279303 single base substitution G A downstream_gene_variant BRCA-EU 21 44279303 44279303 single base substitution G A intron_variant BRCA-EU 21 44280272 44280272 single base substitution A G downstream_gene_variant BRCA-EU 21 44280272 44280272 single base substitution A G intron_variant BRCA-EU 21 44282227 44282227 single base substitution T A downstream_gene_variant BRCA-EU 21 44282227 44282227 single base substitution T A intron_variant BRCA-EU 21 44282549 44282549 single base substitution C T intron_variant BRCA-EU 21 44286133 44286133 single base substitution C A intron_variant BRCA-EU 21 44286642 44286643 deletion of <=200bp AA - intron_variant BRCA-EU 21 44288506 44288506 single base substitution C T intron_variant BRCA-EU 21 44289020 44289020 single base substitution G C intron_variant BRCA-EU 21 44292988 44292988 single base substitution G A intron_variant BRCA-EU 21 44293447 44293447 single base substitution G C intron_variant BRCA-EU 21 44293812 44293812 single base substitution G C intron_variant BRCA-EU 21 44296676 44296676 single base substitution G C intron_variant BRCA-EU 21 44296885 44296885 single base substitution G C splice_region_variant BRCA-EU 21 44296923 44296923 single base substitution G T intron_variant BRCA-EU 21 44297582 44297582 single base substitution T A intron_variant BRCA-EU 21 44297633 44297633 single base substitution T C intron_variant BRCA-EU 21 44298400 44298400 single base substitution G C intron_variant BRCA-EU 21 44298770 44298770 single base substitution G A intron_variant BRCA-EU 21 44299210 44299210 single base substitution G A exon_variant BRCA-EU 21 44299210 44299210 single base substitution G A intron_variant BRCA-EU 21 44299403 44299403 single base substitution C G exon_variant BRCA-EU 21 44299403 44299403 single base substitution C G intron_variant BRCA-EU 21 44299403 44299403 single base substitution C G upstream_gene_variant BRCA-EU 21 44299839 44299839 single base substitution G A upstream_gene_variant BRCA-EU 21 44299917 44299917 single base substitution G A upstream_gene_variant BRCA-EU 21 44300925 44300925 single base substitution C T upstream_gene_variant BRCA-EU 21 44303488 44303488 single base substitution A T upstream_gene_variant BRCA-EU 21 44304117 44304117 single base substitution T C upstream_gene_variant BRCA-EU 21 44304267 44304267 single base substitution C A upstream_gene_variant BRCA-FR 21 44261475 44261475 single base substitution C T downstream_gene_variant BRCA-FR 21 44278878 44278878 single base substitution G A downstream_gene_variant BRCA-FR 21 44278878 44278878 single base substitution G A intron_variant BRCA-FR 21 44285989 44285989 single base substitution G C intron_variant BRCA-FR 21 44287022 44287022 single base substitution C G intron_variant BRCA-FR 21 44297603 44297603 single base substitution G T intron_variant BRCA-FR 21 44299210 44299210 single base substitution G A exon_variant BRCA-FR 21 44299210 44299210 single base substitution G A intron_variant BRCA-UK 21 44264244 44264244 single base substitution C T intron_variant BRCA-UK 21 44293812 44293812 single base substitution G C intron_variant BRCA-US 21 44270341 44270341 insertion of <=200bp - A downstream_gene_variant BRCA-US 21 44270341 44270341 insertion of <=200bp - A exon_variant BRCA-US 21 44270341 44270341 insertion of <=200bp - A frameshift_variant A353V? BRCA-US 21 44270347 44270347 insertion of <=200bp - A downstream_gene_variant BRCA-US 21 44270347 44270347 insertion of <=200bp - A exon_variant BRCA-US 21 44270347 44270347 insertion of <=200bp - A frameshift_variant A351V? BRCA-US 21 44279796 44279796 single base substitution G A downstream_gene_variant BRCA-US 21 44279796 44279796 single base substitution G A exon_variant BRCA-US 21 44279796 44279796 single base substitution G A synonymous_variant P201P 603C>T BRCA-US 21 44282454 44282454 single base substitution C A exon_variant BRCA-US 21 44282454 44282454 single base substitution C A missense_variant K168N 504G>T BRCA-US 21 44299550 44299550 single base substitution C G exon_variant BRCA-US 21 44299550 44299550 single base substitution C G intron_variant BRCA-US 21 44299550 44299550 single base substitution C G missense_variant G19A 56G>C BRCA-US 21 44299550 44299550 single base substitution C G upstream_gene_variant BTCA-JP 21 44270276 44270276 single base substitution C G downstream_gene_variant BTCA-JP 21 44270276 44270276 single base substitution C G exon_variant BTCA-JP 21 44270276 44270276 single base substitution C G missense_variant K374N 1122G>C BTCA-JP 21 44273814 44273814 single base substitution C A downstream_gene_variant BTCA-JP 21 44273814 44273814 single base substitution C A exon_variant BTCA-JP 21 44273814 44273814 single base substitution C A missense_variant L280F 840G>T BTCA-JP 21 44274747 44274747 single base substitution A G downstream_gene_variant BTCA-JP 21 44274747 44274747 single base substitution A G intron_variant BTCA-JP 21 44275585 44275588 deletion of <=200bp TGTT - downstream_gene_variant BTCA-JP 21 44275585 44275588 deletion of <=200bp TGTT - intron_variant BTCA-JP 21 44283628 44283628 single base substitution G A exon_variant BTCA-JP 21 44283628 44283628 single base substitution G A synonymous_variant D125D 375C>T BTCA-JP 21 44296945 44296945 single base substitution T G intron_variant CESC-US 21 44273714 44273714 single base substitution G A downstream_gene_variant CESC-US 21 44273714 44273714 single base substitution G A exon_variant CESC-US 21 44273714 44273714 single base substitution G A synonymous_variant L314L 940C>T CESC-US 21 44274710 44274710 single base substitution G A downstream_gene_variant CESC-US 21 44274710 44274710 single base substitution G A exon_variant CESC-US 21 44274710 44274710 single base substitution G A synonymous_variant F251F 753C>T CLLE-ES 21 44260366 44260366 single base substitution G A downstream_gene_variant CLLE-ES 21 44282210 44282210 single base substitution C T downstream_gene_variant CLLE-ES 21 44282210 44282210 single base substitution C T intron_variant CLLE-ES 21 44295232 44295232 single base substitution G A intron_variant COAD-US 21 44270229 44270229 single base substitution C T downstream_gene_variant COAD-US 21 44270229 44270229 single base substitution C T exon_variant COAD-US 21 44270229 44270229 single base substitution C T missense_variant R390Q 1169G>A COAD-US 21 44273858 44273858 single base substitution G A downstream_gene_variant COAD-US 21 44273858 44273858 single base substitution G A exon_variant COAD-US 21 44273858 44273858 single base substitution G A missense_variant P266S 796C>T COAD-US 21 44275794 44275794 deletion of <=200bp G - exon_variant COAD-US 21 44275794 44275794 deletion of <=200bp G - frameshift_variant Q242 COAD-US 21 44275794 44275794 deletion of <=200bp G - splice_region_variant COAD-US 21 44283574 44283574 single base substitution C T exon_variant COAD-US 21 44283574 44283574 single base substitution C T synonymous_variant G143G 429G>A COAD-US 21 44293719 44293719 single base substitution C T exon_variant COAD-US 21 44293719 44293719 single base substitution C T missense_variant D80N 238G>A COAD-US 21 44293744 44293744 single base substitution C G exon_variant COAD-US 21 44293744 44293744 single base substitution C G missense_variant K71N 213G>C COCA-CN 21 44268614 44268614 single base substitution A G downstream_gene_variant COCA-CN 21 44268614 44268614 single base substitution A G intron_variant COCA-CN 21 44273909 44273909 single base substitution G A downstream_gene_variant COCA-CN 21 44273909 44273909 single base substitution G A intron_variant COCA-CN 21 44293792 44293792 single base substitution C T exon_variant COCA-CN 21 44293792 44293792 single base substitution C T synonymous_variant A55A 165G>A COCA-CN 21 44293795 44293795 single base substitution G A exon_variant COCA-CN 21 44293795 44293795 single base substitution G A synonymous_variant D54D 162C>T COCA-CN 21 44296885 44296885 single base substitution G T splice_region_variant COCA-CN 21 44296935 44296935 single base substitution T A intron_variant EOPC-DE 21 44260094 44260094 single base substitution T C downstream_gene_variant EOPC-DE 21 44269293 44269293 single base substitution A G downstream_gene_variant EOPC-DE 21 44269293 44269293 single base substitution A G intron_variant ESAD-UK 21 44258354 44258354 single base substitution C T downstream_gene_variant ESAD-UK 21 44258759 44258759 single base substitution G A downstream_gene_variant ESAD-UK 21 44260263 44260263 single base substitution G A downstream_gene_variant ESAD-UK 21 44264637 44264637 single base substitution T G downstream_gene_variant ESAD-UK 21 44264637 44264637 single base substitution T G intron_variant ESAD-UK 21 44265548 44265548 single base substitution C A downstream_gene_variant ESAD-UK 21 44265548 44265548 single base substitution C A intron_variant ESAD-UK 21 44267355 44267355 single base substitution G A downstream_gene_variant ESAD-UK 21 44267355 44267355 single base substitution G A intron_variant ESAD-UK 21 44269657 44269657 single base substitution C T 3_prime_UTR_variant ESAD-UK 21 44269657 44269657 single base substitution C T exon_variant ESAD-UK 21 44269657 44269657 single base substitution C T intron_variant ESAD-UK 21 44271484 44271484 single base substitution G A downstream_gene_variant ESAD-UK 21 44271484 44271484 single base substitution G A intron_variant ESAD-UK 21 44277353 44277353 single base substitution C A intron_variant ESAD-UK 21 44280172 44280172 single base substitution G A downstream_gene_variant ESAD-UK 21 44280172 44280172 single base substitution G A intron_variant ESAD-UK 21 44283363 44283363 single base substitution C T intron_variant ESAD-UK 21 44287332 44287332 single base substitution C T intron_variant ESAD-UK 21 44287599 44287599 single base substitution C T intron_variant ESAD-UK 21 44289829 44289829 single base substitution G A intron_variant ESAD-UK 21 44292318 44292318 single base substitution T C intron_variant ESAD-UK 21 44301976 44301976 single base substitution G A upstream_gene_variant ESAD-UK 21 44304554 44304554 single base substitution C T upstream_gene_variant ESCA-CN 21 44275979 44275979 single base substitution T C intron_variant GBM-US 21 44296865 44296865 single base substitution G A exon_variant GBM-US 21 44296865 44296865 single base substitution G A synonymous_variant S34S 102C>T LAML-KR 21 44268542 44268542 single base substitution A G downstream_gene_variant LAML-KR 21 44268542 44268542 single base substitution A G intron_variant LAML-KR 21 44269753 44269753 single base substitution G A 3_prime_UTR_variant LAML-KR 21 44269753 44269753 single base substitution G A downstream_gene_variant LAML-KR 21 44269753 44269753 single base substitution G A exon_variant LAML-KR 21 44269753 44269753 single base substitution G A intron_variant LAML-KR 21 44302490 44302490 single base substitution C T upstream_gene_variant LICA-CN 21 44274702 44274702 single base substitution T A downstream_gene_variant LICA-CN 21 44274702 44274702 single base substitution T A exon_variant LICA-CN 21 44274702 44274702 single base substitution T A missense_variant Q254L 761A>T LICA-FR 21 44261205 44261205 single base substitution G A downstream_gene_variant LICA-FR 21 44267839 44267839 single base substitution T C downstream_gene_variant LICA-FR 21 44267839 44267839 single base substitution T C intron_variant LICA-FR 21 44268608 44268608 single base substitution G A downstream_gene_variant LICA-FR 21 44268608 44268608 single base substitution G A intron_variant LICA-FR 21 44268614 44268614 single base substitution A G downstream_gene_variant LICA-FR 21 44268614 44268614 single base substitution A G intron_variant LICA-FR 21 44270738 44270738 single base substitution C A downstream_gene_variant LICA-FR 21 44270738 44270738 single base substitution C A intron_variant LICA-FR 21 44278802 44278802 single base substitution A G downstream_gene_variant LICA-FR 21 44278802 44278802 single base substitution A G intron_variant LICA-FR 21 44282449 44282449 single base substitution C A exon_variant LICA-FR 21 44282449 44282449 single base substitution C A missense_variant R170L 509G>T LICA-FR 21 44287382 44287382 single base substitution T C intron_variant LICA-FR 21 44298152 44298152 insertion of <=200bp - A intron_variant LINC-JP 21 44260136 44260136 single base substitution T A downstream_gene_variant LINC-JP 21 44260190 44260190 insertion of <=200bp - C downstream_gene_variant LINC-JP 21 44278911 44278911 single base substitution G A downstream_gene_variant LINC-JP 21 44278911 44278911 single base substitution G A intron_variant LINC-JP 21 44282468 44282468 single base substitution C A exon_variant LINC-JP 21 44282468 44282468 single base substitution C A missense_variant D164Y 490G>T LINC-JP 21 44296945 44296945 single base substitution T G intron_variant LINC-JP 21 44301258 44301258 single base substitution C T upstream_gene_variant LIRI-JP 21 44263812 44263812 single base substitution T C intron_variant LIRI-JP 21 44271618 44271618 single base substitution T G downstream_gene_variant LIRI-JP 21 44271618 44271618 single base substitution T G intron_variant LIRI-JP 21 44271644 44271644 single base substitution T C downstream_gene_variant LIRI-JP 21 44271644 44271644 single base substitution T C intron_variant LIRI-JP 21 44272199 44272199 single base substitution T G downstream_gene_variant LIRI-JP 21 44272199 44272199 single base substitution T G intron_variant LIRI-JP 21 44277149 44277149 single base substitution C T intron_variant LIRI-JP 21 44279175 44279175 single base substitution A T downstream_gene_variant LIRI-JP 21 44279175 44279175 single base substitution A T intron_variant LIRI-JP 21 44283852 44283852 single base substitution T C intron_variant LIRI-JP 21 44292822 44292822 single base substitution A G intron_variant LIRI-JP 21 44294575 44294575 single base substitution G A intron_variant LIRI-JP 21 44296931 44296931 insertion of <=200bp - A intron_variant LIRI-JP 21 44297529 44297529 single base substitution T C intron_variant LIRI-JP 21 44298996 44298996 single base substitution A T intron_variant LIRI-JP 21 44301544 44301544 single base substitution T G upstream_gene_variant LIRI-JP 21 44302638 44302638 single base substitution T C upstream_gene_variant LIRI-JP 21 44304504 44304504 single base substitution A G upstream_gene_variant LUSC-KR 21 44266013 44266013 single base substitution C A downstream_gene_variant LUSC-KR 21 44266013 44266013 single base substitution C A intron_variant LUSC-KR 21 44266218 44266218 single base substitution G A downstream_gene_variant LUSC-KR 21 44266218 44266218 single base substitution G A intron_variant LUSC-KR 21 44268862 44268862 single base substitution A G downstream_gene_variant LUSC-KR 21 44268862 44268862 single base substitution A G intron_variant LUSC-KR 21 44268872 44268872 single base substitution G A downstream_gene_variant LUSC-KR 21 44268872 44268872 single base substitution G A intron_variant LUSC-KR 21 44275044 44275044 single base substitution G C downstream_gene_variant LUSC-KR 21 44275044 44275044 single base substitution G C intron_variant LUSC-KR 21 44277513 44277513 single base substitution C T downstream_gene_variant LUSC-KR 21 44277513 44277513 single base substitution C T intron_variant LUSC-US 21 44273748 44273748 single base substitution C T downstream_gene_variant LUSC-US 21 44273748 44273748 single base substitution C T exon_variant LUSC-US 21 44273748 44273748 single base substitution C T synonymous_variant G302G 906G>A LUSC-US 21 44293671 44293671 single base substitution G C exon_variant LUSC-US 21 44293671 44293671 single base substitution G C intron_variant LUSC-US 21 44293671 44293671 single base substitution G C missense_variant L96V 286C>G LUSC-US 21 44296822 44296822 single base substitution C T exon_variant LUSC-US 21 44296822 44296822 single base substitution C T missense_variant E49K 145G>A MALY-DE 21 44260186 44260186 single base substitution C A downstream_gene_variant MALY-DE 21 44263513 44263516 deletion of <=200bp GTGC - intron_variant MALY-DE 21 44268070 44268070 single base substitution C T downstream_gene_variant MALY-DE 21 44268070 44268070 single base substitution C T intron_variant MALY-DE 21 44269154 44269154 single base substitution C T downstream_gene_variant MALY-DE 21 44269154 44269154 single base substitution C T intron_variant MALY-DE 21 44272153 44272153 single base substitution T C downstream_gene_variant MALY-DE 21 44272153 44272153 single base substitution T C intron_variant MALY-DE 21 44273374 44273374 single base substitution C T downstream_gene_variant MALY-DE 21 44273374 44273374 single base substitution C T intron_variant MALY-DE 21 44276468 44276468 single base substitution G T intron_variant MALY-DE 21 44283785 44283785 single base substitution G A intron_variant MALY-DE 21 44283985 44283985 single base substitution G A intron_variant MALY-DE 21 44290014 44290014 single base substitution T A intron_variant MALY-DE 21 44298530 44298530 deletion of <=200bp T - intron_variant MALY-DE 21 44304623 44304623 single base substitution G A upstream_gene_variant MELA-AU 21 44258923 44258923 single base substitution G T downstream_gene_variant MELA-AU 21 44258925 44258925 single base substitution G C downstream_gene_variant MELA-AU 21 44259957 44259957 single base substitution G A downstream_gene_variant MELA-AU 21 44260051 44260051 single base substitution G A downstream_gene_variant MELA-AU 21 44260095 44260095 single base substitution G A downstream_gene_variant MELA-AU 21 44260115 44260115 single base substitution G A downstream_gene_variant MELA-AU 21 44260160 44260160 single base substitution G A downstream_gene_variant MELA-AU 21 44260189 44260189 single base substitution G A downstream_gene_variant MELA-AU 21 44260245 44260245 single base substitution A C downstream_gene_variant MELA-AU 21 44260413 44260413 single base substitution G C downstream_gene_variant MELA-AU 21 44261363 44261363 single base substitution G A downstream_gene_variant MELA-AU 21 44261481 44261481 single base substitution G A downstream_gene_variant MELA-AU 21 44261487 44261488 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 44261490 44261491 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 44261742 44261742 single base substitution G A downstream_gene_variant MELA-AU 21 44261765 44261765 single base substitution C T downstream_gene_variant MELA-AU 21 44261869 44261869 single base substitution G A downstream_gene_variant MELA-AU 21 44262371 44262371 single base substitution G A downstream_gene_variant MELA-AU 21 44262738 44262738 single base substitution A T downstream_gene_variant MELA-AU 21 44262804 44262804 single base substitution G A downstream_gene_variant MELA-AU 21 44263628 44263628 single base substitution C T intron_variant MELA-AU 21 44263639 44263639 single base substitution G A intron_variant MELA-AU 21 44263747 44263747 single base substitution G A intron_variant MELA-AU 21 44263758 44263759 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 21 44263965 44263965 single base substitution G A intron_variant MELA-AU 21 44264205 44264205 single base substitution G A intron_variant MELA-AU 21 44265291 44265291 single base substitution G A downstream_gene_variant MELA-AU 21 44265291 44265291 single base substitution G A intron_variant MELA-AU 21 44266300 44266300 single base substitution A G downstream_gene_variant MELA-AU 21 44266300 44266300 single base substitution A G intron_variant MELA-AU 21 44266416 44266416 single base substitution G A downstream_gene_variant MELA-AU 21 44266416 44266416 single base substitution G A intron_variant MELA-AU 21 44266446 44266446 single base substitution G A downstream_gene_variant MELA-AU 21 44266446 44266446 single base substitution G A intron_variant MELA-AU 21 44266471 44266471 single base substitution G A downstream_gene_variant MELA-AU 21 44266471 44266471 single base substitution G A intron_variant MELA-AU 21 44266518 44266518 single base substitution G A downstream_gene_variant MELA-AU 21 44266518 44266518 single base substitution G A intron_variant MELA-AU 21 44266923 44266923 single base substitution G A downstream_gene_variant MELA-AU 21 44266923 44266923 single base substitution G A intron_variant MELA-AU 21 44267831 44267831 single base substitution A C downstream_gene_variant MELA-AU 21 44267831 44267831 single base substitution A C intron_variant MELA-AU 21 44268170 44268170 single base substitution C T downstream_gene_variant MELA-AU 21 44268170 44268170 single base substitution C T intron_variant MELA-AU 21 44268205 44268205 single base substitution G A downstream_gene_variant MELA-AU 21 44268205 44268205 single base substitution G A intron_variant MELA-AU 21 44268407 44268407 single base substitution G A downstream_gene_variant MELA-AU 21 44268407 44268407 single base substitution G A intron_variant MELA-AU 21 44268699 44268699 single base substitution G A downstream_gene_variant MELA-AU 21 44268699 44268699 single base substitution G A intron_variant MELA-AU 21 44268800 44268800 single base substitution G A downstream_gene_variant MELA-AU 21 44268800 44268800 single base substitution G A intron_variant MELA-AU 21 44268835 44268835 single base substitution G A downstream_gene_variant MELA-AU 21 44268835 44268835 single base substitution G A intron_variant MELA-AU 21 44269122 44269122 single base substitution G A downstream_gene_variant MELA-AU 21 44269122 44269122 single base substitution G A intron_variant MELA-AU 21 44269188 44269188 single base substitution G A downstream_gene_variant MELA-AU 21 44269188 44269188 single base substitution G A intron_variant MELA-AU 21 44269335 44269336 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 21 44269335 44269336 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 21 44269335 44269336 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 44269725 44269725 single base substitution G A 3_prime_UTR_variant MELA-AU 21 44269725 44269725 single base substitution G A downstream_gene_variant MELA-AU 21 44269725 44269725 single base substitution G A exon_variant MELA-AU 21 44269725 44269725 single base substitution G A intron_variant MELA-AU 21 44270484 44270484 single base substitution C T downstream_gene_variant MELA-AU 21 44270484 44270484 single base substitution C T intron_variant MELA-AU 21 44270966 44270966 single base substitution G C downstream_gene_variant MELA-AU 21 44270966 44270966 single base substitution G C intron_variant MELA-AU 21 44271127 44271127 single base substitution C T downstream_gene_variant MELA-AU 21 44271127 44271127 single base substitution C T intron_variant MELA-AU 21 44271685 44271685 single base substitution C T downstream_gene_variant MELA-AU 21 44271685 44271685 single base substitution C T intron_variant MELA-AU 21 44272315 44272315 single base substitution G A downstream_gene_variant MELA-AU 21 44272315 44272315 single base substitution G A intron_variant MELA-AU 21 44273871 44273871 single base substitution G A downstream_gene_variant MELA-AU 21 44273871 44273871 single base substitution G A intron_variant MELA-AU 21 44274062 44274063 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 44274062 44274063 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 44274587 44274588 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 44274587 44274588 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 44274643 44274643 single base substitution G A downstream_gene_variant MELA-AU 21 44274643 44274643 single base substitution G A intron_variant MELA-AU 21 44275104 44275104 single base substitution T C downstream_gene_variant MELA-AU 21 44275104 44275104 single base substitution T C intron_variant MELA-AU 21 44275316 44275316 single base substitution C T downstream_gene_variant MELA-AU 21 44275316 44275316 single base substitution C T intron_variant MELA-AU 21 44275716 44275716 single base substitution G A downstream_gene_variant MELA-AU 21 44275716 44275716 single base substitution G A intron_variant MELA-AU 21 44275818 44275819 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 21 44275818 44275819 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant QE233QK MELA-AU 21 44276204 44276204 single base substitution G A intron_variant MELA-AU 21 44276300 44276300 single base substitution G A intron_variant MELA-AU 21 44276694 44276694 single base substitution A G intron_variant MELA-AU 21 44277061 44277061 single base substitution G A intron_variant MELA-AU 21 44277289 44277290 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 44278094 44278094 single base substitution G A downstream_gene_variant MELA-AU 21 44278094 44278094 single base substitution G A intron_variant MELA-AU 21 44278502 44278503 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 44278502 44278503 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 44278558 44278558 single base substitution G A downstream_gene_variant MELA-AU 21 44278558 44278558 single base substitution G A intron_variant MELA-AU 21 44278907 44278907 single base substitution A G downstream_gene_variant MELA-AU 21 44278907 44278907 single base substitution A G intron_variant MELA-AU 21 44279593 44279593 single base substitution C T downstream_gene_variant MELA-AU 21 44279593 44279593 single base substitution C T intron_variant MELA-AU 21 44279809 44279810 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 21 44279809 44279810 multiple base substitution (>=2bp and <=200bp) AC CT exon_variant MELA-AU 21 44279809 44279810 multiple base substitution (>=2bp and <=200bp) AC CT missense_variant V197R 589GT>AG MELA-AU 21 44281011 44281011 single base substitution A G downstream_gene_variant MELA-AU 21 44281011 44281011 single base substitution A G intron_variant MELA-AU 21 44281034 44281035 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 44281034 44281035 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 44282289 44282289 single base substitution C G downstream_gene_variant MELA-AU 21 44282289 44282289 single base substitution C G intron_variant MELA-AU 21 44282893 44282893 single base substitution C T intron_variant MELA-AU 21 44283141 44283141 single base substitution G A intron_variant MELA-AU 21 44283612 44283612 single base substitution C T exon_variant MELA-AU 21 44283612 44283612 single base substitution C T missense_variant V131M 391G>A MELA-AU 21 44283681 44283681 single base substitution G A exon_variant MELA-AU 21 44283681 44283681 single base substitution G A synonymous_variant L108L 322C>T MELA-AU 21 44283701 44283701 single base substitution A C exon_variant MELA-AU 21 44283701 44283701 single base substitution A C missense_variant V101G 302T>G MELA-AU 21 44283718 44283718 single base substitution G A intron_variant MELA-AU 21 44284110 44284110 single base substitution G A intron_variant MELA-AU 21 44284584 44284584 single base substitution G A intron_variant MELA-AU 21 44284598 44284598 single base substitution C T intron_variant MELA-AU 21 44284895 44284895 single base substitution C T intron_variant MELA-AU 21 44285184 44285184 single base substitution G A intron_variant MELA-AU 21 44285969 44285969 single base substitution G A intron_variant MELA-AU 21 44286305 44286306 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 21 44286749 44286749 single base substitution T C intron_variant MELA-AU 21 44287224 44287224 single base substitution G A intron_variant MELA-AU 21 44288467 44288467 single base substitution C T intron_variant MELA-AU 21 44288554 44288554 single base substitution G A intron_variant MELA-AU 21 44288554 44288554 single base substitution G T intron_variant MELA-AU 21 44288883 44288883 single base substitution G A intron_variant MELA-AU 21 44289626 44289626 single base substitution C T intron_variant MELA-AU 21 44289776 44289776 single base substitution G A intron_variant MELA-AU 21 44289992 44289992 single base substitution G A intron_variant MELA-AU 21 44291518 44291518 single base substitution C T intron_variant MELA-AU 21 44291568 44291568 single base substitution G A intron_variant MELA-AU 21 44291893 44291893 single base substitution A G intron_variant MELA-AU 21 44291917 44291917 single base substitution G A intron_variant MELA-AU 21 44292219 44292219 single base substitution C T intron_variant MELA-AU 21 44292991 44292991 single base substitution G A intron_variant MELA-AU 21 44293125 44293125 single base substitution G A intron_variant MELA-AU 21 44293128 44293128 deletion of <=200bp A - intron_variant MELA-AU 21 44293247 44293247 deletion of <=200bp A - intron_variant MELA-AU 21 44293682 44293682 single base substitution G A exon_variant MELA-AU 21 44293682 44293682 single base substitution G A intron_variant MELA-AU 21 44293682 44293682 single base substitution G A missense_variant P92L 275C>T MELA-AU 21 44293759 44293759 single base substitution C T exon_variant MELA-AU 21 44293759 44293759 single base substitution C T synonymous_variant A66A 198G>A MELA-AU 21 44293790 44293790 single base substitution G A exon_variant MELA-AU 21 44293790 44293790 single base substitution G A missense_variant P56L 167C>T MELA-AU 21 44293955 44293955 single base substitution G A intron_variant MELA-AU 21 44294716 44294716 single base substitution G A intron_variant MELA-AU 21 44295028 44295028 single base substitution C T intron_variant MELA-AU 21 44295033 44295033 single base substitution C T intron_variant MELA-AU 21 44295067 44295067 single base substitution A G intron_variant MELA-AU 21 44295103 44295103 single base substitution G A intron_variant MELA-AU 21 44295132 44295132 single base substitution G A intron_variant MELA-AU 21 44295238 44295238 single base substitution G A intron_variant MELA-AU 21 44295964 44295964 single base substitution G A intron_variant MELA-AU 21 44296248 44296248 single base substitution T C intron_variant MELA-AU 21 44296521 44296521 single base substitution G A intron_variant MELA-AU 21 44296581 44296581 single base substitution C T intron_variant MELA-AU 21 44296769 44296769 single base substitution G A intron_variant MELA-AU 21 44297381 44297381 single base substitution G A intron_variant MELA-AU 21 44297765 44297765 single base substitution G A intron_variant MELA-AU 21 44298630 44298630 single base substitution G A intron_variant MELA-AU 21 44299528 44299528 single base substitution G A exon_variant MELA-AU 21 44299528 44299528 single base substitution G A intron_variant MELA-AU 21 44299528 44299528 single base substitution G A synonymous_variant S26S 78C>T MELA-AU 21 44299528 44299528 single base substitution G A upstream_gene_variant MELA-AU 21 44299605 44299605 single base substitution T A exon_variant MELA-AU 21 44299605 44299605 single base substitution T A initiator_codon_variant M1L 1A>T MELA-AU 21 44299605 44299605 single base substitution T A intron_variant MELA-AU 21 44299605 44299605 single base substitution T A upstream_gene_variant MELA-AU 21 44299890 44299890 single base substitution C T upstream_gene_variant MELA-AU 21 44299914 44299914 single base substitution C T upstream_gene_variant MELA-AU 21 44300539 44300539 single base substitution C T upstream_gene_variant MELA-AU 21 44301223 44301223 single base substitution A T upstream_gene_variant MELA-AU 21 44301237 44301237 single base substitution G A upstream_gene_variant MELA-AU 21 44301548 44301548 single base substitution T A upstream_gene_variant MELA-AU 21 44302256 44302256 single base substitution C T upstream_gene_variant MELA-AU 21 44302758 44302758 single base substitution C T upstream_gene_variant MELA-AU 21 44302820 44302820 single base substitution C T upstream_gene_variant MELA-AU 21 44303479 44303479 single base substitution C T upstream_gene_variant MELA-AU 21 44303789 44303789 single base substitution G A upstream_gene_variant ORCA-IN 21 44265471 44265471 single base substitution G A downstream_gene_variant ORCA-IN 21 44265471 44265471 single base substitution G A intron_variant ORCA-IN 21 44269078 44269078 single base substitution T A downstream_gene_variant ORCA-IN 21 44269078 44269078 single base substitution T A intron_variant ORCA-IN 21 44269204 44269204 single base substitution T A downstream_gene_variant ORCA-IN 21 44269204 44269204 single base substitution T A intron_variant ORCA-IN 21 44274674 44274674 single base substitution G T downstream_gene_variant ORCA-IN 21 44274674 44274674 single base substitution G T exon_variant ORCA-IN 21 44274674 44274674 single base substitution G T missense_variant D263E 789C>A ORCA-IN 21 44274674 44274674 single base substitution G T splice_region_variant ORCA-IN 21 44282460 44282460 single base substitution G A exon_variant ORCA-IN 21 44282460 44282460 single base substitution G A synonymous_variant D166D 498C>T OV-AU 21 44263482 44263482 single base substitution T C intron_variant OV-AU 21 44279716 44279716 single base substitution A C downstream_gene_variant OV-AU 21 44279716 44279716 single base substitution A C intron_variant OV-AU 21 44279864 44279864 single base substitution C T downstream_gene_variant OV-AU 21 44279864 44279864 single base substitution C T intron_variant OV-AU 21 44280344 44280344 single base substitution C T downstream_gene_variant OV-AU 21 44280344 44280344 single base substitution C T intron_variant OV-AU 21 44281318 44281318 single base substitution G T downstream_gene_variant OV-AU 21 44281318 44281318 single base substitution G T intron_variant OV-AU 21 44284780 44284780 single base substitution G A intron_variant OV-AU 21 44286163 44286163 single base substitution C A intron_variant OV-AU 21 44292245 44292245 single base substitution C T intron_variant OV-AU 21 44295917 44295917 single base substitution T G intron_variant OV-AU 21 44303944 44303944 single base substitution G A upstream_gene_variant PACA-AU 21 44266468 44266468 single base substitution G A downstream_gene_variant PACA-AU 21 44266468 44266468 single base substitution G A intron_variant PACA-AU 21 44268557 44268557 single base substitution A C downstream_gene_variant PACA-AU 21 44268557 44268557 single base substitution A C intron_variant PACA-AU 21 44275001 44275001 single base substitution C A downstream_gene_variant PACA-AU 21 44275001 44275001 single base substitution C A intron_variant PACA-AU 21 44279486 44279486 single base substitution C A downstream_gene_variant PACA-AU 21 44279486 44279486 single base substitution C A intron_variant PACA-AU 21 44284236 44284236 single base substitution A G intron_variant PACA-AU 21 44287234 44287234 single base substitution C T intron_variant PACA-AU 21 44287850 44287850 single base substitution C A intron_variant PACA-AU 21 44295028 44295028 single base substitution C G intron_variant PACA-AU 21 44301386 44301386 single base substitution G A upstream_gene_variant PACA-AU 21 44303031 44303031 single base substitution A G upstream_gene_variant PACA-CA 21 44260095 44260095 single base substitution G A downstream_gene_variant PACA-CA 21 44260153 44260153 single base substitution C T downstream_gene_variant PACA-CA 21 44261611 44261611 single base substitution G A downstream_gene_variant PACA-CA 21 44272316 44272316 single base substitution G C downstream_gene_variant PACA-CA 21 44272316 44272316 single base substitution G C intron_variant PACA-CA 21 44272872 44272903 deletion of <=200bp AAAATTAGCCGGGTGTGGTGGCGCATGCCTGT - downstream_gene_variant PACA-CA 21 44272872 44272903 deletion of <=200bp AAAATTAGCCGGGTGTGGTGGCGCATGCCTGT - intron_variant PACA-CA 21 44277243 44277243 single base substitution C G intron_variant PACA-CA 21 44277837 44277837 single base substitution A T downstream_gene_variant PACA-CA 21 44277837 44277837 single base substitution A T intron_variant PACA-CA 21 44285066 44285066 single base substitution G A intron_variant PACA-CA 21 44287812 44287812 single base substitution G C intron_variant PACA-CA 21 44287857 44287857 single base substitution G C intron_variant PACA-CA 21 44298113 44298113 single base substitution C T intron_variant PAEN-AU 21 44267056 44267056 single base substitution G A downstream_gene_variant PAEN-AU 21 44267056 44267056 single base substitution G A intron_variant PBCA-DE 21 44260192 44260192 single base substitution G A downstream_gene_variant PBCA-DE 21 44268689 44268689 insertion of <=200bp - CA downstream_gene_variant PBCA-DE 21 44268689 44268689 insertion of <=200bp - CA intron_variant PBCA-DE 21 44269021 44269021 single base substitution A G downstream_gene_variant PBCA-DE 21 44269021 44269021 single base substitution A G intron_variant PBCA-DE 21 44274657 44274657 single base substitution G T downstream_gene_variant PBCA-DE 21 44274657 44274657 single base substitution G T intron_variant PBCA-DE 21 44276904 44276905 deletion of <=200bp CA - intron_variant PBCA-DE 21 44294078 44294078 single base substitution C A intron_variant PBCA-DE 21 44294667 44294667 single base substitution C A intron_variant PBCA-DE 21 44295506 44295506 insertion of <=200bp - A intron_variant PBCA-DE 21 44303736 44303736 single base substitution G A upstream_gene_variant PRAD-CA 21 44268752 44268752 single base substitution A T downstream_gene_variant PRAD-CA 21 44268752 44268752 single base substitution A T intron_variant PRAD-CA 21 44271212 44271212 single base substitution C T downstream_gene_variant PRAD-CA 21 44271212 44271212 single base substitution C T intron_variant PRAD-CA 21 44285060 44285060 single base substitution C T intron_variant PRAD-UK 21 44264394 44264394 single base substitution G T downstream_gene_variant PRAD-UK 21 44264394 44264394 single base substitution G T intron_variant PRAD-UK 21 44284661 44284661 single base substitution G A intron_variant PRAD-UK 21 44294621 44294621 single base substitution A G intron_variant PRAD-US 21 44283564 44283564 single base substitution T C exon_variant PRAD-US 21 44283564 44283564 single base substitution T C missense_variant M147V 439A>G RECA-EU 21 44261323 44261323 single base substitution G A downstream_gene_variant RECA-EU 21 44268203 44268203 single base substitution A C downstream_gene_variant RECA-EU 21 44268203 44268203 single base substitution A C intron_variant RECA-EU 21 44281231 44281231 single base substitution C T downstream_gene_variant RECA-EU 21 44281231 44281231 single base substitution C T intron_variant RECA-EU 21 44301936 44301936 single base substitution C T upstream_gene_variant RECA-EU 21 44304411 44304411 single base substitution C T upstream_gene_variant SKCA-BR 21 44259250 44259250 single base substitution C G downstream_gene_variant SKCA-BR 21 44260094 44260094 single base substitution T C downstream_gene_variant SKCA-BR 21 44260104 44260104 single base substitution G A downstream_gene_variant SKCA-BR 21 44260154 44260154 single base substitution A G downstream_gene_variant SKCA-BR 21 44260161 44260161 single base substitution A G downstream_gene_variant SKCA-BR 21 44261537 44261537 single base substitution A C downstream_gene_variant SKCA-BR 21 44262086 44262103 deletion of <=200bp GGCCAGTCCCCGCCAGGT - downstream_gene_variant SKCA-BR 21 44264041 44264041 single base substitution T C intron_variant SKCA-BR 21 44264451 44264451 single base substitution G A downstream_gene_variant SKCA-BR 21 44264451 44264451 single base substitution G A intron_variant SKCA-BR 21 44267108 44267108 single base substitution A C downstream_gene_variant SKCA-BR 21 44267108 44267108 single base substitution A C intron_variant SKCA-BR 21 44268036 44268036 single base substitution C A downstream_gene_variant SKCA-BR 21 44268036 44268036 single base substitution C A intron_variant SKCA-BR 21 44272986 44272986 single base substitution T C downstream_gene_variant SKCA-BR 21 44272986 44272986 single base substitution T C intron_variant SKCA-BR 21 44273677 44273677 single base substitution A C downstream_gene_variant SKCA-BR 21 44273677 44273677 single base substitution A C splice_donor_variant SKCA-BR 21 44277121 44277121 single base substitution A C intron_variant SKCA-BR 21 44286106 44286106 single base substitution T C intron_variant SKCA-BR 21 44286594 44286594 single base substitution G A intron_variant SKCA-BR 21 44286791 44286791 single base substitution A C intron_variant SKCA-BR 21 44290206 44290207 deletion of <=200bp AT - intron_variant SKCA-BR 21 44291827 44291827 single base substitution A C intron_variant SKCA-BR 21 44292284 44292284 single base substitution G A intron_variant SKCA-BR 21 44292767 44292767 single base substitution G A intron_variant SKCA-BR 21 44292770 44292770 single base substitution T G intron_variant SKCA-BR 21 44294447 44294447 single base substitution A T intron_variant SKCA-BR 21 44297334 44297334 single base substitution A C intron_variant SKCA-BR 21 44298408 44298408 single base substitution C A intron_variant SKCA-BR 21 44298460 44298460 single base substitution A C intron_variant SKCA-BR 21 44299608 44299608 single base substitution A C 5_prime_UTR_variant SKCA-BR 21 44299608 44299608 single base substitution A C exon_variant SKCA-BR 21 44299608 44299608 single base substitution A C intron_variant SKCA-BR 21 44299608 44299608 single base substitution A C upstream_gene_variant SKCA-BR 21 44299792 44299792 single base substitution T G upstream_gene_variant SKCA-BR 21 44299811 44299811 single base substitution T G upstream_gene_variant SKCA-BR 21 44303424 44303426 deletion of <=200bp CTT - upstream_gene_variant SKCM-US 21 44282451 44282451 single base substitution G A exon_variant SKCM-US 21 44282451 44282451 single base substitution G A synonymous_variant I169I 507C>T SKCM-US 21 44283566 44283566 single base substitution G A exon_variant SKCM-US 21 44283566 44283566 single base substitution G A missense_variant S146F 437C>T SKCM-US 21 44283681 44283681 single base substitution G A exon_variant SKCM-US 21 44283681 44283681 single base substitution G A synonymous_variant L108L 322C>T STAD-US 21 44270183 44270183 single base substitution C T downstream_gene_variant STAD-US 21 44270183 44270183 single base substitution C T exon_variant STAD-US 21 44270183 44270183 single base substitution C T synonymous_variant P405P 1215G>A STAD-US 21 44273682 44273682 single base substitution C T downstream_gene_variant STAD-US 21 44273682 44273682 single base substitution C T exon_variant STAD-US 21 44273682 44273682 single base substitution C T stop_gained W324* 972G>A STAD-US 21 44283598 44283598 single base substitution G A exon_variant STAD-US 21 44283598 44283598 single base substitution G A synonymous_variant H135H 405C>T THCA-SA 21 44270203 44270203 single base substitution G T downstream_gene_variant THCA-SA 21 44270203 44270203 single base substitution G T exon_variant THCA-SA 21 44270203 44270203 single base substitution G T missense_variant H399N 1195C>A UCEC-US 21 44270184 44270184 single base substitution G T downstream_gene_variant UCEC-US 21 44270184 44270184 single base substitution G T exon_variant UCEC-US 21 44270184 44270184 single base substitution G T missense_variant P405Q 1214C>A UCEC-US 21 44275801 44275801 single base substitution C A exon_variant UCEC-US 21 44275801 44275801 single base substitution C A missense_variant Q239H 717G>T UCEC-US 21 44279795 44279795 single base substitution C T downstream_gene_variant UCEC-US 21 44279795 44279795 single base substitution C T exon_variant UCEC-US 21 44279795 44279795 single base substitution C T missense_variant G202R 604G>A UCEC-US 21 44283567 44283567 single base substitution A G exon_variant UCEC-US 21 44283567 44283567 single base substitution A G missense_variant S146P 436T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-E2-A15I-01 COSM3841990 c.56G>C p.G19A Substitution - Missense 21:42879440-42879440 - PDA_074 COSM3758913 c.1169G>A p.R390Q Substitution - Missense 21:42850119-42850119 - YUKAT COSM5392978 c.384C>T p.S128S Substitution - coding silent 21:42863509-42863509 - TCGA-A6-6141-01 COSM1414295 c.238G>A p.D80N Substitution - Missense 21:42873609-42873609 - NYU321 COSM4770761 c.660delC p.S220fs*114 Deletion - Frameshift 21:42855748-42855748 - TARGET-30-PAKVUY COSM1288938 c.24G>A p.A8A Substitution - coding silent 21:42879472-42879472 - YUTUR COSM5392979 c.259C>T p.L87F Substitution - Missense 21:42873588-42873588 - TCGA-AO-A0JB-01 COSM5834050 c.1056_1057insT p.A353fs*>61 Insertion - Frameshift 21:42850231-42850232 - 2492723 COSM5723193 c.438T>C p.S146S Substitution - coding silent 21:42863455-42863455 - TCGA-D5-6930-01 COSM3758914 c.796C>T p.P266S Substitution - Missense 21:42853748-42853748 - TCGA-AM-5821-01 COSM3758916 c.213G>C p.K71N Substitution - Missense 21:42873634-42873634 - TCGA-HC-7077-01 COSM3673195 c.439A>G p.M147V Substitution - Missense 21:42863454-42863454 - 2492721 COSM5723193 c.438T>C p.S146S Substitution - coding silent 21:42863455-42863455 - 587302 COSM1232583 c.1178C>T p.P393L Substitution - Missense 21:42850110-42850110 - CSCC-40-T COSM4568374 c.1115T>C p.L372P Substitution - Missense 21:42850173-42850173 - PT49 COSM5936688 c.1121A>G p.K374R Substitution - Missense 21:42850167-42850167 - sysucc-1163T COSM5458872 c.165G>A p.A55A Substitution - coding silent 21:42873682-42873682 - BD57T COSM5511186 c.375C>T p.D125D Substitution - coding silent 21:42863518-42863518 - 2492722 COSM5723192 c.1109C>T p.S370F Substitution - Missense 21:42850179-42850179 - LS174T COSM2819960 c.736G>A p.A246T Substitution - Missense 21:42854617-42854617 - TCGA-A2-A25C-01 COSM1483978 c.504G>T p.K168N Substitution - Missense 21:42862344-42862344 - TCGA-E2-A15R-01 COSM444543 c.603C>T p.P201P Substitution - coding silent 21:42859686-42859686 - TCGA-BR-6452-01 COSM4101820 c.1215G>A p.P405P Substitution - coding silent 21:42850073-42850073 - Case5 COSM1579430 c.607C>A p.L203M Substitution - Missense 21:42859682-42859682 - Pat_41_B COSM5858705 c.1159C>T p.Q387* Substitution - Nonsense 21:42850129-42850129 - TCGA-AP-A051-01 COSM1031097 c.1214C>A p.P405Q Substitution - Missense 21:42850074-42850074 - C086 COSM5541711 c.415C>T p.R139C Substitution - Missense 21:42863478-42863478 - PTC-7C COSM3758914 c.796C>T p.P266S Substitution - Missense 21:42853748-42853748 - S00838 COSM5661588 c.301G>T p.V101L Substitution - Missense 21:42863592-42863592 - SW48 COSM2819966 c.320C>T p.A107V Substitution - Missense 21:42863573-42863573 - Pat_15_B COSM5858706 c.545C>T p.S182F Substitution - Missense 21:42862303-42862303 - TCGA-24-2293-01 COSM117935 c.985G>T p.E329* Substitution - Nonsense 21:42852315-42852315 - 2492720 COSM5723192 c.1109C>T p.S370F Substitution - Missense 21:42850179-42850179 - 587376 COSM1232585 c.1021C>T p.R341C Substitution - Missense 21:42852279-42852279 - TCGA-66-2773-01 COSM725058 c.286C>G p.L96V Substitution - Missense 21:42873561-42873561 - LIM1899 COSM4640327 c.527C>T p.A176V Substitution - Missense 21:42862321-42862321 - TCGA-AP-A0LM-01 COSM188593 c.604G>A p.G202R Substitution - Missense 21:42859685-42859685 - TCGA-AM-5820-01 COSM3758915 c.429G>A p.G143G Substitution - coding silent 21:42863464-42863464 - TCGA-FD-A3B3-01 COSM1307845 c.780C>G p.L260L Substitution - coding silent 21:42854573-42854573 - SMYM-PRGP COSM3727672 c.1134A>C p.R378S Substitution - Missense 21:42850154-42850154 - PA285 COSM1163301 c.183C>T p.S61S Substitution - coding silent 21:42873664-42873664 - B104-0-Tumor COSM1751668 c.753C>G p.F251L Substitution - Missense 21:42854600-42854600 - TCGA-EE-A29V-06 COSM3551206 c.507C>T p.I169I Substitution - coding silent 21:42862341-42862341 - T578 COSM1232585 c.1021C>T p.R341C Substitution - Missense 21:42852279-42852279 - ACINAR28 COSM1734553 c.652T>C p.Y218H Substitution - Missense 21:42855756-42855756 - 2492723 COSM5723192 c.1109C>T p.S370F Substitution - Missense 21:42850179-42850179 - CSCC-19-T COSM4500980 c.577C>G p.R193G Substitution - Missense 21:42859712-42859712 - HCC086T COSM5813233 c.761A>T p.Q254L Substitution - Missense 21:42854592-42854592 - 3 COSM5541711 c.415C>T p.R139C Substitution - Missense 21:42863478-42863478 - TCGA-06-2567-01 COSM2153083 c.102C>T p.S34S Substitution - coding silent 21:42876755-42876755 - U373 COSM5712962 c.1173T>G p.S391R Substitution - Missense 21:42850115-42850115 - PTC_441 COSM5957465 c.1195C>A p.H399N Substitution - Missense 21:42850093-42850093 - TCGA-FD-A3B3-01 COSM1232585 c.1021C>T p.R341C Substitution - Missense 21:42852279-42852279 - TCGA-EE-A2M5-06 COSM3551208 c.322C>T p.L108L Substitution - coding silent 21:42863571-42863571 - AA1934 COSM4169119 c.950A>G p.Y317C Substitution - Missense 21:42853594-42853594 - sysucc-834T COSM4740954 c.162C>T p.D54D Substitution - coding silent 21:42873685-42873685 - CHC2113T COSM4788415 c.509G>T p.R170L Substitution - Missense 21:42862339-42862339 - 2492722 COSM5723193 c.438T>C p.S146S Substitution - coding silent 21:42863455-42863455 - H1155 COSM1195523 c.994G>A p.V332M Substitution - Missense 21:42852306-42852306 - 2492721 COSM5723192 c.1109C>T p.S370F Substitution - Missense 21:42850179-42850179 - TCGA-BR-6452-01 COSM4101821 c.972G>A p.W324* Substitution - Nonsense 21:42853572-42853572 - BN43T COSM1616110 c.490G>T p.D164Y Substitution - Missense 21:42862358-42862358 - TCGA-37-4133-01 COSM725059 c.906G>A p.G302G Substitution - coding silent 21:42853638-42853638 - TCGA-D1-A103-01 COSM1031099 c.436T>C p.S146P Substitution - Missense 21:42863457-42863457 - Sample_1 COSM3758916 c.213G>C p.K71N Substitution - Missense 21:42873634-42873634 - YUZINO COSM1714052 c.743_744GG>AT p.R248N Substitution - Missense 21:42854609-42854610 - TCGA-IR-A3LK-01 COSM2819959 c.753C>T p.F251F Substitution - coding silent 21:42854600-42854600 - TCGA-06-2567 COSM2153083 c.102C>T p.S34S Substitution - coding silent 21:42876755-42876755 - TCGA-AA-A02Y-01 COSM301079 c.1096G>A p.D366N Substitution - Missense 21:42850192-42850192 - PD7069a COSM5788788 c.90-8C>G p.? Unknown 21:42876775-42876775 - CHC2113T COSM4788415 c.509G>T p.R170L Substitution - Missense 21:42862339-42862339 - TCGA-AP-A059-01 COSM1031098 c.717G>T p.Q239H Substitution - Missense 21:42855691-42855691 - T4 COSM3758914 c.796C>T p.P266S Substitution - Missense 21:42853748-42853748 - 2492720 COSM5723193 c.438T>C p.S146S Substitution - coding silent 21:42863455-42863455 - PTC-7C COSM3758913 c.1169G>A p.R390Q Substitution - Missense 21:42850119-42850119 - H23 COSM1196358 c.787G>A p.D263N Substitution - Missense 21:42854566-42854566 - CSCC-55-T COSM4501316 c.585C>T p.S195S Substitution - coding silent 21:42859704-42859704 - TCGA-EK-A2RA-01 COSM4848150 c.940C>T p.L314L Substitution - coding silent 21:42853604-42853604 - TCGA-AO-A0JB-01 COSM5834051 c.1050_1051insT p.A351fs*>63 Insertion - Frameshift 21:42850237-42850238 - S00050 COSM5657169 c.469G>T p.D157Y Substitution - Missense 21:42862379-42862379 - CSCC-44-T COSM4497070 c.489C>T p.A163A Substitution - coding silent 21:42862359-42862359 - pfg043T COSM4754075 c.803T>A p.V268D Substitution - Missense 21:42853741-42853741 - T3503 COSM4740954 c.162C>T p.D54D Substitution - coding silent 21:42873685-42873685 - TCGA-B7-5816-01 COSM4101822 c.405C>T p.H135H Substitution - coding silent 21:42863488-42863488 - TCGA-24-1603-01 COSM73278 c.1162C>T p.R388W Substitution - Missense 21:42850126-42850126 - 91577 COSM330397 c.566+4delA p.? Unknown 21:42862278-42862278 - S02139 COSM5674414 c.915G>C p.V305V Substitution - coding silent 21:42853629-42853629 - TCGA-22-4613-01 COSM725057 c.145G>A p.E49K Substitution - Missense 21:42876712-42876712 - LS180 COSM2819960 c.736G>A p.A246T Substitution - Missense 21:42854617-42854617 - TCGA-G4-6588-01 COSM1414294 c.724delC p.Q242fs*92 Deletion - Frameshift 21:42855684-42855684 - B104-0 COSM1751668 c.753C>G p.F251L Substitution - Missense 21:42854600-42854600 - OSCC-GB_01100111 COSM4888406 c.789C>A p.D263E Substitution - Missense 21:42854564-42854564 - 587278 COSM1232584 c.251G>A p.R84H Substitution - Missense 21:42873596-42873596 - TCGA-AM-5821-01 COSM3758913 c.1169G>A p.R390Q Substitution - Missense 21:42850119-42850119 - TCGA-D3-A5GO-06 COSM3551207 c.437C>T p.S146F Substitution - Missense 21:42863456-42863456 - HCC138T COSM1616109 c.627+7G>T p.? Unknown 21:42859655-42859655 - OSCC-GB_01170111 COSM5954021 c.498C>T p.D166D Substitution - coding silent 21:42862350-42862350 - BN43 COSM1616110 c.490G>T p.D164Y Substitution - Missense 21:42862358-42862358 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.248815 21q22.3 605924 2423773|CGAP|BC001074|C/G|non-coding||179|Validated; 2423773|CGAP|BC006341|C/G|coding|Lys71Asn|248|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.K168N c.504G>T 21 44282454 BRCA C A Nonsense p.E329* c.985G>T 21 44272425 OV C A Synonymous p.P405P c.1215G>T 21 44270183 CM C G Missense p.Q12H c.36G>C 21 44299570 HNSC C T IntronicSNV . c.89+134G>A 21 44299383 CM C T Missense p.D366N c.1096G>A 21 44270302 COREAD C T Missense p.E49K c.145G>A 21 44296822 LUSC C T Synonymous p.A8A c.24G>A 21 44299582 NB C T Synonymous p.G302G c.906G>A 21 44273748 LUSC G A Missense p.R341C c.1021C>T 21 44272389 BLCA G A Missense p.R388W c.1162C>T 21 44270236 OV G A Synonymous p.H135H c.405C>T 21 44283598 STAD G A Synonymous p.I169I c.507C>T 21 44282451 CM G A Synonymous p.L108L c.322C>T 21 44283681 CM G A Synonymous p.P201P c.603C>T 21 44279796 BRCA G A Synonymous p.S34S c.102C>T 21 44296865 GBM G C Missense p.L96V c.286C>G 21 44293671 LUSC G C Synonymous p.L260L c.780C>G 21 44274683 BLCA T C Missense p.M147V c.439A>G 21 44283564 PRAD