Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 40762971 40762971 + Missense_Mutation SNP G G C TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr5:40762971G>C c.1589C>G c.(1588-1590)tCt>tGt p.S530C BLCA 5 40763068 40763068 + Missense_Mutation SNP T T A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr5:40763068T>A c.1492A>T c.(1492-1494)Agc>Tgc p.S498C BLCA 5 40765069 40765069 + Missense_Mutation SNP G G A TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr5:40765069G>A c.1093C>T c.(1093-1095)Cat>Tat p.H365Y BLCA 5 40769524 40769524 + Nonsense_Mutation SNP G G T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr5:40769524G>T c.590C>A c.(589-591)tCa>tAa p.S197* BLCA 5 40769548 40769548 + Missense_Mutation SNP T T C TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr5:40769548T>C c.566A>G c.(565-567)aAc>aGc p.N189S BLCA 5 40769603 40769603 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr5:40769603G>C c.511C>G c.(511-513)Ctt>Gtt p.L171V BLCA 5 40771922 40771922 + Missense_Mutation SNP G G C TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr5:40771922G>C c.407C>G c.(406-408)tCt>tGt p.S136C BLCA 5 40775549 40775549 + Missense_Mutation SNP C C A TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr5:40775549C>A c.326G>T c.(325-327)gGa>gTa p.G109V BLCA 5 40777570 40777570 + Missense_Mutation SNP G G C TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr5:40777570G>C c.246C>G c.(244-246)ttC>ttG p.F82L BRCA 5 40763109 40763109 + Missense_Mutation SNP G G T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 g.chr5:40763109G>T c.1451C>A c.(1450-1452)gCc>gAc p.A484D BRCA 5 40767578 40767578 + Missense_Mutation SNP T T G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chr5:40767578T>G c.811A>C c.(811-813)Aaa>Caa p.K271Q BRCA 5 40771909 40771909 + Silent SNP A A G TCGA-E2-A1LA-01A-11D-A142-09 TCGA-E2-A1LA-10A-01D-A142-09 g.chr5:40771909A>G c.420T>C c.(418-420)taT>taC p.Y140Y BRCA 5 40775557 40775557 + Silent SNP A A G TCGA-A8-A09N-01A-11W-A019-09 TCGA-A8-A09N-10A-01W-A021-09 g.chr5:40775557A>G c.318T>C c.(316-318)taT>taC p.Y106Y BRCA 5 40798178 40798178 + Silent SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr5:40798178G>A c.114C>T c.(112-114)ttC>ttT p.F38F BRCA 5 40798188 40798189 + Frame_Shift_Ins INS - - C TCGA-BH-A0BM-01A-11W-A071-09 TCGA-BH-A0BM-11A-12W-A10F-09 g.chr5:40798188_40798189insC c.103_104insG c.(103-105)gtcfs p.V35fs COAD 5 40763122 40763122 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:40763122C>T c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K COAD 5 40765005 40765005 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr5:40765005C>T c.1157G>A c.(1156-1158)cGc>cAc p.R386H COAD 5 40765006 40765006 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:40765006G>A c.1156C>T c.(1156-1158)Cgc>Tgc p.R386C COAD 5 40765078 40765078 + Missense_Mutation SNP G G T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr5:40765078G>T c.1084C>A c.(1084-1086)Ctt>Att p.L362I COAD 5 40765292 40765292 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr5:40765292C>A c.870G>T c.(868-870)gaG>gaT p.E290D COAD 5 40771830 40771830 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:40771830C>T c.499G>A c.(499-501)Gct>Act p.A167T COAD 5 40777678 40777678 + Silent SNP A A G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:40777678A>G c.138T>C c.(136-138)caT>caC p.H46H COAD 5 40777689 40777689 + Splice_Site SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:40777689C>T c.e2-1 COAD 5 40798229 40798229 + Silent SNP C C T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr5:40798229C>T c.63G>A c.(61-63)cgG>cgA p.R21R COAD 5 40798245 40798245 + Missense_Mutation SNP T T C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr5:40798245T>C c.47A>G c.(46-48)cAg>cGg p.Q16R COADREAD 5 40763122 40763122 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:40763122C>T c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K COADREAD 5 40765005 40765005 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr5:40765005C>T c.1157G>A c.(1156-1158)cGc>cAc p.R386H COADREAD 5 40765006 40765006 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:40765006G>A c.1156C>T c.(1156-1158)Cgc>Tgc p.R386C COADREAD 5 40765078 40765078 + Missense_Mutation SNP G G T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr5:40765078G>T c.1084C>A c.(1084-1086)Ctt>Att p.L362I COADREAD 5 40765109 40765109 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:40765109G>T c.1053C>A c.(1051-1053)ttC>ttA p.F351L COADREAD 5 40765292 40765292 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr5:40765292C>A c.870G>T c.(868-870)gaG>gaT p.E290D COADREAD 5 40771830 40771830 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:40771830C>T c.499G>A c.(499-501)Gct>Act p.A167T COADREAD 5 40777678 40777678 + Silent SNP A A G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:40777678A>G c.138T>C c.(136-138)caT>caC p.H46H COADREAD 5 40777689 40777689 + Splice_Site SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:40777689C>T c.e2-1 COADREAD 5 40798229 40798229 + Silent SNP C C T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr5:40798229C>T c.63G>A c.(61-63)cgG>cgA p.R21R COADREAD 5 40798245 40798245 + Missense_Mutation SNP T T C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr5:40798245T>C c.47A>G c.(46-48)cAg>cGg p.Q16R DLBC 5 40765280 40765280 + Silent SNP A A G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr5:40765280A>G c.882T>C c.(880-882)taT>taC p.Y294Y DLBC 5 40798278 40798278 + Missense_Mutation SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr5:40798278C>T c.14G>A c.(13-15)aGt>aAt p.S5N ESCA 5 40764855 40764855 + Splice_Site SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr5:40764855T>G c.1307A>C c.(1306-1308)aAg>aCg p.K436T ESCA 5 40767573 40767573 + Silent SNP A A G TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr5:40767573A>G c.816T>C c.(814-816)gaT>gaC p.D272D ESCA 5 40767767 40767767 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr5:40767767T>C c.622A>G c.(622-624)Ata>Gta p.I208V ESCA 5 40771927 40771927 + Silent SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr5:40771927G>A c.402C>T c.(400-402)atC>atT p.I134I ESCA 5 40775593 40775593 + Silent SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chr5:40775593G>A c.282C>T c.(280-282)atC>atT p.I94I GBMLGG 5 40764715 40764715 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:40764715G>A c.1336C>T c.(1336-1338)Cga>Tga p.R446* GBMLGG 5 40765006 40765006 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:40765006G>A c.1156C>T c.(1156-1158)Cgc>Tgc p.R386C GBMLGG 5 40765101 40765101 + Missense_Mutation SNP G G A TCGA-DU-7015-01A-11D-2024-08 TCGA-DU-7015-10B-01D-2024-08 g.chr5:40765101G>A c.1061C>T c.(1060-1062)gCg>gTg p.A354V HNSC 5 40762911 40762911 + Missense_Mutation SNP C C G TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr5:40762911C>G c.1649G>C c.(1648-1650)tGt>tCt p.C550S HNSC 5 40765031 40765031 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 g.chr5:40765031G>A c.1131C>T c.(1129-1131)ttC>ttT p.F377F HNSC 5 40765109 40765109 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 g.chr5:40765109G>A c.1053C>T c.(1051-1053)ttC>ttT p.F351F HNSC 5 40765238 40765238 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:40765238A>G c.924T>C c.(922-924)tgT>tgC p.C308C HNSC 5 40767661 40767661 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 g.chr5:40767661T>C c.728A>G c.(727-729)tAt>tGt p.Y243C HNSC 5 40777689 40777689 + Splice_Site SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr5:40777689C>G c.e2-1 HNSC 5 40798208 40798208 + Silent SNP A A G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 g.chr5:40798208A>G c.84T>C c.(82-84)atT>atC p.I28I HNSC 5 40798216 40798216 + Missense_Mutation SNP G G T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 g.chr5:40798216G>T c.76C>A c.(76-78)Cac>Aac p.H26N KICH 5 40775606 40775606 + Splice_Site SNP C C T TCGA-KN-8418-01A-11D-2310-10 TCGA-KN-8418-11A-01D-2310-10 g.chr5:40775606C>T c.e3-1 KIPAN 5 40764924 40764924 + Missense_Mutation SNP C C A TCGA-5P-A9JV-01A-12D-A42J-10 TCGA-5P-A9JV-10A-01D-A42M-10 g.chr5:40764924C>A c.1238G>T c.(1237-1239)aGt>aTt p.S413I KIPAN 5 40775606 40775606 + Splice_Site SNP C C T TCGA-KN-8418-01A-11D-2310-10 TCGA-KN-8418-11A-01D-2310-10 g.chr5:40775606C>T c.e3-1 KIRP 5 40764924 40764924 + Missense_Mutation SNP C C A TCGA-5P-A9JV-01A-12D-A42J-10 TCGA-5P-A9JV-10A-01D-A42M-10 g.chr5:40764924C>A c.1238G>T c.(1237-1239)aGt>aTt p.S413I LGG 5 40764715 40764715 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:40764715G>A c.1336C>T c.(1336-1338)Cga>Tga p.R446* LGG 5 40765006 40765006 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:40765006G>A c.1156C>T c.(1156-1158)Cgc>Tgc p.R386C LGG 5 40765101 40765101 + Missense_Mutation SNP G G A TCGA-DU-7015-01A-11D-2024-08 TCGA-DU-7015-10B-01D-2024-08 g.chr5:40765101G>A c.1061C>T c.(1060-1062)gCg>gTg p.A354V LIHC 5 40762932 40762932 + Missense_Mutation SNP G G T TCGA-KR-A7K0-01A-12D-A33Q-10 TCGA-KR-A7K0-10A-01D-A33Q-10 g.chr5:40762932G>T c.1628C>A c.(1627-1629)aCa>aAa p.T543K LIHC 5 40763061 40763061 + Missense_Mutation SNP T T C TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr5:40763061T>C c.1499A>G c.(1498-1500)tAt>tGt p.Y500C LIHC 5 40764913 40764913 + Missense_Mutation SNP G G C TCGA-DD-AACF-01A-11D-A40R-10 TCGA-DD-AACF-10A-01D-A40U-10 g.chr5:40764913G>C c.1249C>G c.(1249-1251)Cca>Gca p.P417A LIHC 5 40777637 40777637 + Missense_Mutation SNP C C T TCGA-FV-A3I0-01A-11D-A22F-10 TCGA-FV-A3I0-11A-11D-A22F-10 g.chr5:40777637C>T c.179G>A c.(178-180)cGa>cAa p.R60Q LUAD 5 40764924 40764924 + Missense_Mutation SNP C C G TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr5:40764924C>G c.1238G>C c.(1237-1239)aGt>aCt p.S413T LUAD 5 40764982 40764982 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr5:40764982G>C c.1180C>G c.(1180-1182)Cca>Gca p.P394A LUAD 5 40765169 40765169 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr5:40765169C>G c.993G>C c.(991-993)ttG>ttC p.L331F LUAD 5 40767653 40767653 + Missense_Mutation SNP G G C TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr5:40767653G>C c.736C>G c.(736-738)Caa>Gaa p.Q246E LUAD 5 40771891 40771891 + Silent SNP C C A TCGA-MP-A4SW-01A-21D-A24P-08 TCGA-MP-A4SW-10A-01D-A24P-08 g.chr5:40771891C>A c.438G>T c.(436-438)gtG>gtT p.V146V LUAD 5 40775031 40775031 + Intron SNP T T C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr5:40775031T>C LUAD 5 40798243 40798243 + Missense_Mutation SNP T T C TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr5:40798243T>C c.49A>G c.(49-51)Aaa>Gaa p.K17E PAAD 5 40767579 40767579 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr5:40767579G>T c.810C>A c.(808-810)atC>atA p.I270I PAAD 5 40769539 40769539 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:40769539G>A c.575C>T c.(574-576)gCa>gTa p.A192V READ 5 40765109 40765109 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:40765109G>T c.1053C>A c.(1051-1053)ttC>ttA p.F351L SARC 5 40765100 40765100 + Silent SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 g.chr5:40765100C>T c.1062G>A c.(1060-1062)gcG>gcA p.A354A SKCM 5 40764629 40764629 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr5:40764629G>A c.1422C>T c.(1420-1422)ttC>ttT p.F474F SKCM 5 40764857 40764857 + Nonsense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr5:40764857C>T c.1305G>A c.(1303-1305)tgG>tgA p.W435*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 40765100 40765100 single base substitution C T downstream_gene_variant BLCA-CN 5 40765100 40765100 single base substitution C T exon_variant BLCA-CN 5 40765100 40765100 single base substitution C T synonymous_variant A354A 1062G>A BLCA-CN 5 40765100 40765100 single base substitution C T synonymous_variant A369A 1107G>A BLCA-CN 5 40765100 40765100 single base substitution C T upstream_gene_variant BLCA-CN 5 40767653 40767653 single base substitution G C downstream_gene_variant BLCA-CN 5 40767653 40767653 single base substitution G C exon_variant BLCA-CN 5 40767653 40767653 single base substitution G C missense_variant Q246E 736C>G BLCA-CN 5 40767653 40767653 single base substitution G C missense_variant Q261E 781C>G BLCA-CN 5 40767653 40767653 single base substitution G C upstream_gene_variant BLCA-CN 5 40767729 40767729 single base substitution A G downstream_gene_variant BLCA-CN 5 40767729 40767729 single base substitution A G exon_variant BLCA-CN 5 40767729 40767729 single base substitution A G synonymous_variant C220C 660T>C BLCA-CN 5 40767729 40767729 single base substitution A G synonymous_variant C235C 705T>C BLCA-CN 5 40767729 40767729 single base substitution A G upstream_gene_variant BLCA-CN 5 40775601 40775601 single base substitution G A downstream_gene_variant BLCA-CN 5 40775601 40775601 single base substitution G A exon_variant BLCA-CN 5 40775601 40775601 single base substitution G A stop_gained Q83* 247C>T BLCA-CN 5 40775601 40775601 single base substitution G A stop_gained Q92* 274C>T BLCA-CN 5 40775601 40775601 single base substitution G A upstream_gene_variant BRCA-EU 5 40755157 40755157 single base substitution G C downstream_gene_variant BRCA-EU 5 40757503 40757503 deletion of <=200bp G - downstream_gene_variant BRCA-EU 5 40757953 40757953 single base substitution C T downstream_gene_variant BRCA-EU 5 40758205 40758205 single base substitution C T downstream_gene_variant BRCA-EU 5 40759299 40759299 single base substitution C T downstream_gene_variant BRCA-EU 5 40760507 40760507 single base substitution A C 3_prime_UTR_variant BRCA-EU 5 40760507 40760507 single base substitution A C downstream_gene_variant BRCA-EU 5 40760833 40760833 single base substitution C A 3_prime_UTR_variant BRCA-EU 5 40760833 40760833 single base substitution C A downstream_gene_variant BRCA-EU 5 40760994 40760994 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 5 40760994 40760994 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 40761649 40761649 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 40761649 40761649 single base substitution A G downstream_gene_variant BRCA-EU 5 40762694 40762694 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 40762694 40762694 single base substitution G A downstream_gene_variant BRCA-EU 5 40763078 40763078 single base substitution C T downstream_gene_variant BRCA-EU 5 40763078 40763078 single base substitution C T synonymous_variant S494S 1482G>A BRCA-EU 5 40763078 40763078 single base substitution C T synonymous_variant S509S 1527G>A BRCA-EU 5 40764915 40764915 single base substitution C T downstream_gene_variant BRCA-EU 5 40764915 40764915 single base substitution C T exon_variant BRCA-EU 5 40764915 40764915 single base substitution C T missense_variant R416Q 1247G>A BRCA-EU 5 40764915 40764915 single base substitution C T missense_variant R431Q 1292G>A BRCA-EU 5 40764915 40764915 single base substitution C T upstream_gene_variant BRCA-EU 5 40765104 40765104 single base substitution A T downstream_gene_variant BRCA-EU 5 40765104 40765104 single base substitution A T exon_variant BRCA-EU 5 40765104 40765104 single base substitution A T stop_gained L353* 1058T>A BRCA-EU 5 40765104 40765104 single base substitution A T stop_gained L368* 1103T>A BRCA-EU 5 40765104 40765104 single base substitution A T upstream_gene_variant BRCA-EU 5 40765513 40765513 single base substitution G C downstream_gene_variant BRCA-EU 5 40765513 40765513 single base substitution G C intron_variant BRCA-EU 5 40765513 40765513 single base substitution G C upstream_gene_variant BRCA-EU 5 40765578 40765578 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 40765578 40765578 deletion of <=200bp A - intron_variant BRCA-EU 5 40765578 40765578 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 40767130 40767130 single base substitution A C downstream_gene_variant BRCA-EU 5 40767130 40767130 single base substitution A C intron_variant BRCA-EU 5 40767130 40767130 single base substitution A C upstream_gene_variant BRCA-EU 5 40768233 40768233 single base substitution G C downstream_gene_variant BRCA-EU 5 40768233 40768233 single base substitution G C intron_variant BRCA-EU 5 40768233 40768233 single base substitution G C upstream_gene_variant BRCA-EU 5 40769093 40769093 single base substitution C T intron_variant BRCA-EU 5 40769093 40769093 single base substitution C T upstream_gene_variant BRCA-EU 5 40769741 40769741 single base substitution C G intron_variant BRCA-EU 5 40769741 40769741 single base substitution C G upstream_gene_variant BRCA-EU 5 40770678 40770678 single base substitution A C intron_variant BRCA-EU 5 40771405 40771405 single base substitution C G intron_variant BRCA-EU 5 40771646 40771646 single base substitution T A intron_variant BRCA-EU 5 40771692 40771692 insertion of <=200bp - AAT intron_variant BRCA-EU 5 40771870 40771870 single base substitution A G exon_variant BRCA-EU 5 40771870 40771870 single base substitution A G synonymous_variant P144P 432T>C BRCA-EU 5 40771870 40771870 single base substitution A G synonymous_variant P153P 459T>C BRCA-EU 5 40771870 40771870 single base substitution A G synonymous_variant P168P 504T>C BRCA-EU 5 40772445 40772445 single base substitution G A downstream_gene_variant BRCA-EU 5 40772445 40772445 single base substitution G A intron_variant BRCA-EU 5 40772445 40772445 single base substitution G A upstream_gene_variant BRCA-EU 5 40772762 40772762 single base substitution G C downstream_gene_variant BRCA-EU 5 40772762 40772762 single base substitution G C intron_variant BRCA-EU 5 40772762 40772762 single base substitution G C upstream_gene_variant BRCA-EU 5 40772822 40772822 single base substitution G C downstream_gene_variant BRCA-EU 5 40772822 40772822 single base substitution G C intron_variant BRCA-EU 5 40772822 40772822 single base substitution G C upstream_gene_variant BRCA-EU 5 40773061 40773061 single base substitution T A downstream_gene_variant BRCA-EU 5 40773061 40773061 single base substitution T A intron_variant BRCA-EU 5 40773061 40773061 single base substitution T A upstream_gene_variant BRCA-EU 5 40773723 40773723 single base substitution G T downstream_gene_variant BRCA-EU 5 40773723 40773723 single base substitution G T intron_variant BRCA-EU 5 40773723 40773723 single base substitution G T upstream_gene_variant BRCA-EU 5 40773724 40773724 single base substitution A G downstream_gene_variant BRCA-EU 5 40773724 40773724 single base substitution A G intron_variant BRCA-EU 5 40773724 40773724 single base substitution A G upstream_gene_variant BRCA-EU 5 40774397 40774397 single base substitution G T downstream_gene_variant BRCA-EU 5 40774397 40774397 single base substitution G T intron_variant BRCA-EU 5 40774397 40774397 single base substitution G T upstream_gene_variant BRCA-EU 5 40774579 40774579 single base substitution G T downstream_gene_variant BRCA-EU 5 40774579 40774579 single base substitution G T intron_variant BRCA-EU 5 40774579 40774579 single base substitution G T upstream_gene_variant BRCA-EU 5 40775443 40775443 single base substitution C A downstream_gene_variant BRCA-EU 5 40775443 40775443 single base substitution C A intron_variant BRCA-EU 5 40775443 40775443 single base substitution C A upstream_gene_variant BRCA-EU 5 40775472 40775472 single base substitution A T downstream_gene_variant BRCA-EU 5 40775472 40775472 single base substitution A T intron_variant BRCA-EU 5 40775472 40775472 single base substitution A T upstream_gene_variant BRCA-EU 5 40775706 40775706 single base substitution G C downstream_gene_variant BRCA-EU 5 40775706 40775706 single base substitution G C intron_variant BRCA-EU 5 40775706 40775706 single base substitution G C upstream_gene_variant BRCA-EU 5 40776403 40776403 single base substitution G C downstream_gene_variant BRCA-EU 5 40776403 40776403 single base substitution G C intron_variant BRCA-EU 5 40776403 40776403 single base substitution G C upstream_gene_variant BRCA-EU 5 40776440 40776440 single base substitution G C downstream_gene_variant BRCA-EU 5 40776440 40776440 single base substitution G C intron_variant BRCA-EU 5 40776440 40776440 single base substitution G C upstream_gene_variant BRCA-EU 5 40776856 40776856 single base substitution G A downstream_gene_variant BRCA-EU 5 40776856 40776856 single base substitution G A intron_variant BRCA-EU 5 40776856 40776856 single base substitution G A upstream_gene_variant BRCA-EU 5 40777864 40777864 single base substitution C T intron_variant BRCA-EU 5 40777996 40777996 single base substitution G A intron_variant BRCA-EU 5 40778032 40778032 single base substitution G A intron_variant BRCA-EU 5 40778398 40778398 single base substitution A T intron_variant BRCA-EU 5 40778970 40778970 single base substitution C G intron_variant BRCA-EU 5 40779997 40779997 insertion of <=200bp - A intron_variant BRCA-EU 5 40779997 40779998 deletion of <=200bp AA - intron_variant BRCA-EU 5 40780228 40780228 single base substitution G A intron_variant BRCA-EU 5 40781522 40781522 single base substitution C G intron_variant BRCA-EU 5 40782154 40782154 single base substitution G C intron_variant BRCA-EU 5 40783198 40783198 insertion of <=200bp - AC intron_variant BRCA-EU 5 40783583 40783583 single base substitution G A intron_variant BRCA-EU 5 40784928 40784928 single base substitution G A intron_variant BRCA-EU 5 40785498 40785498 single base substitution C T intron_variant BRCA-EU 5 40785834 40785834 single base substitution C A intron_variant BRCA-EU 5 40785998 40785998 single base substitution T C intron_variant BRCA-EU 5 40786141 40786141 single base substitution G C intron_variant BRCA-EU 5 40786780 40786780 single base substitution C T intron_variant BRCA-EU 5 40787076 40787076 single base substitution A G intron_variant BRCA-EU 5 40787132 40787132 single base substitution A G intron_variant BRCA-EU 5 40788848 40788848 single base substitution G A intron_variant BRCA-EU 5 40788928 40788928 single base substitution C A intron_variant BRCA-EU 5 40789652 40789652 single base substitution G C intron_variant BRCA-EU 5 40790630 40790630 single base substitution T C intron_variant BRCA-EU 5 40791500 40791500 single base substitution C A intron_variant BRCA-EU 5 40792114 40792114 single base substitution A G intron_variant BRCA-EU 5 40792129 40792129 single base substitution A G intron_variant BRCA-EU 5 40795221 40795221 single base substitution A C intron_variant BRCA-EU 5 40797845 40797845 single base substitution G C intron_variant BRCA-EU 5 40798382 40798382 single base substitution C G 5_prime_UTR_variant BRCA-EU 5 40798382 40798382 single base substitution C G upstream_gene_variant BRCA-EU 5 40798809 40798809 single base substitution A G upstream_gene_variant BRCA-EU 5 40799050 40799050 single base substitution G A upstream_gene_variant BRCA-EU 5 40799668 40799668 single base substitution G C upstream_gene_variant BRCA-EU 5 40800044 40800044 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 40800775 40800775 single base substitution C T upstream_gene_variant BRCA-EU 5 40800784 40800784 single base substitution C T upstream_gene_variant BRCA-EU 5 40801316 40801316 single base substitution G A upstream_gene_variant BRCA-EU 5 40801468 40801468 single base substitution G A upstream_gene_variant BRCA-EU 5 40802100 40802100 single base substitution C A upstream_gene_variant BRCA-EU 5 40802494 40802494 single base substitution C T upstream_gene_variant BRCA-FR 5 40755157 40755157 single base substitution G C downstream_gene_variant BRCA-FR 5 40757210 40757210 single base substitution C T downstream_gene_variant BRCA-FR 5 40768233 40768233 single base substitution G C downstream_gene_variant BRCA-FR 5 40768233 40768233 single base substitution G C intron_variant BRCA-FR 5 40768233 40768233 single base substitution G C upstream_gene_variant BRCA-FR 5 40774397 40774397 single base substitution G T downstream_gene_variant BRCA-FR 5 40774397 40774397 single base substitution G T intron_variant BRCA-FR 5 40774397 40774397 single base substitution G T upstream_gene_variant BRCA-FR 5 40775443 40775443 single base substitution C A downstream_gene_variant BRCA-FR 5 40775443 40775443 single base substitution C A intron_variant BRCA-FR 5 40775443 40775443 single base substitution C A upstream_gene_variant BRCA-FR 5 40775472 40775472 single base substitution A T downstream_gene_variant BRCA-FR 5 40775472 40775472 single base substitution A T intron_variant BRCA-FR 5 40775472 40775472 single base substitution A T upstream_gene_variant BRCA-FR 5 40775706 40775706 single base substitution G C downstream_gene_variant BRCA-FR 5 40775706 40775706 single base substitution G C intron_variant BRCA-FR 5 40775706 40775706 single base substitution G C upstream_gene_variant BRCA-FR 5 40778398 40778398 single base substitution A T intron_variant BRCA-FR 5 40783974 40783974 single base substitution G A intron_variant BRCA-FR 5 40792114 40792114 single base substitution A G intron_variant BRCA-FR 5 40797845 40797845 single base substitution G C intron_variant BRCA-FR 5 40802099 40802099 single base substitution A T upstream_gene_variant BRCA-UK 5 40788928 40788928 single base substitution C A intron_variant BRCA-UK 5 40793148 40793148 single base substitution G A intron_variant BRCA-US 5 40763109 40763109 single base substitution G T downstream_gene_variant BRCA-US 5 40763109 40763109 single base substitution G T missense_variant A484D 1451C>A BRCA-US 5 40763109 40763109 single base substitution G T missense_variant A499D 1496C>A BRCA-US 5 40767578 40767578 single base substitution T G downstream_gene_variant BRCA-US 5 40767578 40767578 single base substitution T G exon_variant BRCA-US 5 40767578 40767578 single base substitution T G missense_variant K271Q 811A>C BRCA-US 5 40767578 40767578 single base substitution T G missense_variant K286Q 856A>C BRCA-US 5 40767578 40767578 single base substitution T G upstream_gene_variant BRCA-US 5 40771909 40771909 single base substitution A G exon_variant BRCA-US 5 40771909 40771909 single base substitution A G synonymous_variant Y131Y 393T>C BRCA-US 5 40771909 40771909 single base substitution A G synonymous_variant Y140Y 420T>C BRCA-US 5 40771909 40771909 single base substitution A G synonymous_variant Y155Y 465T>C BRCA-US 5 40775557 40775557 single base substitution A G downstream_gene_variant BRCA-US 5 40775557 40775557 single base substitution A G exon_variant BRCA-US 5 40775557 40775557 single base substitution A G synonymous_variant Y106Y 318T>C BRCA-US 5 40775557 40775557 single base substitution A G synonymous_variant Y97Y 291T>C BRCA-US 5 40775557 40775557 single base substitution A G upstream_gene_variant BRCA-US 5 40798178 40798178 single base substitution G A exon_variant BRCA-US 5 40798178 40798178 single base substitution G A synonymous_variant F29F 87C>T BRCA-US 5 40798178 40798178 single base substitution G A synonymous_variant F38F 114C>T BRCA-US 5 40798188 40798188 insertion of <=200bp - C exon_variant BRCA-US 5 40798188 40798188 insertion of <=200bp - C frameshift_variant V26V? BRCA-US 5 40798188 40798188 insertion of <=200bp - C frameshift_variant V35V? BTCA-JP 5 40762910 40762910 single base substitution A G downstream_gene_variant BTCA-JP 5 40762910 40762910 single base substitution A G synonymous_variant C550C 1650T>C BTCA-JP 5 40762910 40762910 single base substitution A G synonymous_variant C565C 1695T>C BTCA-JP 5 40765152 40765152 single base substitution A G downstream_gene_variant BTCA-JP 5 40765152 40765152 single base substitution A G exon_variant BTCA-JP 5 40765152 40765152 single base substitution A G missense_variant L337P 1010T>C BTCA-JP 5 40765152 40765152 single base substitution A G missense_variant L352P 1055T>C BTCA-JP 5 40765152 40765152 single base substitution A G upstream_gene_variant BTCA-JP 5 40798070 40798070 single base substitution G A intron_variant CLLE-ES 5 40767509 40767509 single base substitution T C downstream_gene_variant CLLE-ES 5 40767509 40767509 single base substitution T C intron_variant CLLE-ES 5 40767509 40767509 single base substitution T C upstream_gene_variant CLLE-ES 5 40768606 40768606 single base substitution T A 3_prime_UTR_variant CLLE-ES 5 40768606 40768606 single base substitution T A intron_variant CLLE-ES 5 40768606 40768606 single base substitution T A upstream_gene_variant CLLE-ES 5 40773662 40773662 single base substitution A C downstream_gene_variant CLLE-ES 5 40773662 40773662 single base substitution A C intron_variant CLLE-ES 5 40773662 40773662 single base substitution A C upstream_gene_variant CLLE-ES 5 40782694 40782694 single base substitution T A intron_variant COAD-US 5 40763122 40763122 single base substitution C T downstream_gene_variant COAD-US 5 40763122 40763122 single base substitution C T missense_variant E480K 1438G>A COAD-US 5 40763122 40763122 single base substitution C T missense_variant E495K 1483G>A COAD-US 5 40765005 40765005 single base substitution C T downstream_gene_variant COAD-US 5 40765005 40765005 single base substitution C T exon_variant COAD-US 5 40765005 40765005 single base substitution C T missense_variant R386H 1157G>A COAD-US 5 40765005 40765005 single base substitution C T missense_variant R401H 1202G>A COAD-US 5 40765005 40765005 single base substitution C T upstream_gene_variant COAD-US 5 40765006 40765006 single base substitution G A downstream_gene_variant COAD-US 5 40765006 40765006 single base substitution G A exon_variant COAD-US 5 40765006 40765006 single base substitution G A missense_variant R386C 1156C>T COAD-US 5 40765006 40765006 single base substitution G A missense_variant R401C 1201C>T COAD-US 5 40765006 40765006 single base substitution G A upstream_gene_variant COAD-US 5 40765292 40765292 single base substitution C A downstream_gene_variant COAD-US 5 40765292 40765292 single base substitution C A exon_variant COAD-US 5 40765292 40765292 single base substitution C A missense_variant E290D 870G>T COAD-US 5 40765292 40765292 single base substitution C A missense_variant E305D 915G>T COAD-US 5 40765292 40765292 single base substitution C A upstream_gene_variant COAD-US 5 40777689 40777689 single base substitution C T splice_acceptor_variant COCA-CN 5 40764769 40764769 single base substitution G C downstream_gene_variant COCA-CN 5 40764769 40764769 single base substitution G C intron_variant COCA-CN 5 40764845 40764845 single base substitution C A downstream_gene_variant COCA-CN 5 40764845 40764845 single base substitution C A intron_variant COCA-CN 5 40765434 40765434 single base substitution T C downstream_gene_variant COCA-CN 5 40765434 40765434 single base substitution T C intron_variant COCA-CN 5 40765434 40765434 single base substitution T C upstream_gene_variant COCA-CN 5 40769054 40769054 single base substitution G T intron_variant COCA-CN 5 40769054 40769054 single base substitution G T upstream_gene_variant COCA-CN 5 40769065 40769065 single base substitution C A intron_variant COCA-CN 5 40769065 40769065 single base substitution C A upstream_gene_variant COCA-CN 5 40772005 40772005 single base substitution C A intron_variant COCA-CN 5 40772005 40772005 single base substitution C A upstream_gene_variant COCA-CN 5 40790640 40790640 single base substitution T G intron_variant COCA-CN 5 40802499 40802499 single base substitution C T upstream_gene_variant EOPC-DE 5 40799397 40799397 single base substitution T C upstream_gene_variant ESAD-UK 5 40755064 40755070 deletion of <=200bp CAACATC - downstream_gene_variant ESAD-UK 5 40755074 40755074 deletion of <=200bp G - downstream_gene_variant ESAD-UK 5 40755225 40755225 single base substitution T C downstream_gene_variant ESAD-UK 5 40755318 40755318 single base substitution T G downstream_gene_variant ESAD-UK 5 40755963 40755963 single base substitution T C downstream_gene_variant ESAD-UK 5 40757740 40757740 single base substitution A G downstream_gene_variant ESAD-UK 5 40758406 40758406 single base substitution C A downstream_gene_variant ESAD-UK 5 40758677 40758677 single base substitution G C downstream_gene_variant ESAD-UK 5 40759971 40759971 single base substitution G T 3_prime_UTR_variant ESAD-UK 5 40759971 40759971 single base substitution G T downstream_gene_variant ESAD-UK 5 40761123 40761123 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 40761123 40761123 single base substitution A G downstream_gene_variant ESAD-UK 5 40763203 40763203 single base substitution T A downstream_gene_variant ESAD-UK 5 40763203 40763203 single base substitution T A intron_variant ESAD-UK 5 40763317 40763317 single base substitution C G downstream_gene_variant ESAD-UK 5 40763317 40763317 single base substitution C G intron_variant ESAD-UK 5 40765595 40765595 single base substitution A C downstream_gene_variant ESAD-UK 5 40765595 40765595 single base substitution A C intron_variant ESAD-UK 5 40765595 40765595 single base substitution A C upstream_gene_variant ESAD-UK 5 40765983 40765983 single base substitution G A downstream_gene_variant ESAD-UK 5 40765983 40765983 single base substitution G A intron_variant ESAD-UK 5 40765983 40765983 single base substitution G A upstream_gene_variant ESAD-UK 5 40768595 40768595 single base substitution T A 3_prime_UTR_variant ESAD-UK 5 40768595 40768595 single base substitution T A intron_variant ESAD-UK 5 40768595 40768595 single base substitution T A upstream_gene_variant ESAD-UK 5 40772103 40772103 single base substitution T C intron_variant ESAD-UK 5 40772103 40772103 single base substitution T C upstream_gene_variant ESAD-UK 5 40772720 40772720 single base substitution T G downstream_gene_variant ESAD-UK 5 40772720 40772720 single base substitution T G intron_variant ESAD-UK 5 40772720 40772720 single base substitution T G upstream_gene_variant ESAD-UK 5 40773432 40773432 insertion of <=200bp - TA downstream_gene_variant ESAD-UK 5 40773432 40773432 insertion of <=200bp - TA intron_variant ESAD-UK 5 40773432 40773432 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 5 40773739 40773739 single base substitution G C downstream_gene_variant ESAD-UK 5 40773739 40773739 single base substitution G C intron_variant ESAD-UK 5 40773739 40773739 single base substitution G C upstream_gene_variant ESAD-UK 5 40775851 40775851 single base substitution C A downstream_gene_variant ESAD-UK 5 40775851 40775851 single base substitution C A intron_variant ESAD-UK 5 40775851 40775851 single base substitution C A upstream_gene_variant ESAD-UK 5 40776855 40776855 single base substitution G A downstream_gene_variant ESAD-UK 5 40776855 40776855 single base substitution G A intron_variant ESAD-UK 5 40776855 40776855 single base substitution G A upstream_gene_variant ESAD-UK 5 40777306 40777306 single base substitution G T exon_variant ESAD-UK 5 40777306 40777306 single base substitution G T intron_variant ESAD-UK 5 40777468 40777468 single base substitution T A exon_variant ESAD-UK 5 40777468 40777468 single base substitution T A intron_variant ESAD-UK 5 40780428 40780428 single base substitution C G intron_variant ESAD-UK 5 40780838 40780838 single base substitution G A intron_variant ESAD-UK 5 40783667 40783667 single base substitution G A intron_variant ESAD-UK 5 40785005 40785005 single base substitution G C intron_variant ESAD-UK 5 40785013 40785013 single base substitution T A intron_variant ESAD-UK 5 40785502 40785502 single base substitution C T intron_variant ESAD-UK 5 40785683 40785683 single base substitution A T intron_variant ESAD-UK 5 40785790 40785790 single base substitution G A intron_variant ESAD-UK 5 40790130 40790130 single base substitution G A intron_variant ESAD-UK 5 40790919 40790919 single base substitution G C intron_variant ESAD-UK 5 40795517 40795517 deletion of <=200bp A - intron_variant ESAD-UK 5 40796299 40796299 single base substitution T C intron_variant ESAD-UK 5 40797190 40797194 deletion of <=200bp CTTTT - intron_variant ESCA-CN 5 40764682 40764682 single base substitution T A downstream_gene_variant ESCA-CN 5 40764682 40764682 single base substitution T A exon_variant ESCA-CN 5 40764682 40764682 single base substitution T A stop_gained K457* 1369A>T ESCA-CN 5 40764682 40764682 single base substitution T A stop_gained K472* 1414A>T ESCA-CN 5 40764965 40764965 single base substitution G A downstream_gene_variant ESCA-CN 5 40764965 40764965 single base substitution G A exon_variant ESCA-CN 5 40764965 40764965 single base substitution G A synonymous_variant H399H 1197C>T ESCA-CN 5 40764965 40764965 single base substitution G A synonymous_variant H414H 1242C>T ESCA-CN 5 40764965 40764965 single base substitution G A upstream_gene_variant ESCA-CN 5 40777570 40777570 single base substitution G C exon_variant ESCA-CN 5 40777570 40777570 single base substitution G C missense_variant F73L 219C>G ESCA-CN 5 40777570 40777570 single base substitution G C missense_variant F82L 246C>G ESCA-CN 5 40798354 40798354 single base substitution T G 5_prime_UTR_variant ESCA-CN 5 40798354 40798354 single base substitution T G upstream_gene_variant LAML-KR 5 40800507 40800507 single base substitution A C upstream_gene_variant LGG-US 5 40765101 40765101 single base substitution G A downstream_gene_variant LGG-US 5 40765101 40765101 single base substitution G A exon_variant LGG-US 5 40765101 40765101 single base substitution G A missense_variant A354V 1061C>T LGG-US 5 40765101 40765101 single base substitution G A missense_variant A369V 1106C>T LGG-US 5 40765101 40765101 single base substitution G A upstream_gene_variant LICA-CN 5 40775529 40775529 single base substitution T A downstream_gene_variant LICA-CN 5 40775529 40775529 single base substitution T A exon_variant LICA-CN 5 40775529 40775529 single base substitution T A missense_variant I107F 319A>T LICA-CN 5 40775529 40775529 single base substitution T A missense_variant I116F 346A>T LICA-CN 5 40775529 40775529 single base substitution T A upstream_gene_variant LICA-CN 5 40777569 40777569 single base substitution T A exon_variant LICA-CN 5 40777569 40777569 single base substitution T A missense_variant R74W 220A>T LICA-CN 5 40777569 40777569 single base substitution T A missense_variant R83W 247A>T LICA-FR 5 40775056 40775056 single base substitution C T downstream_gene_variant LICA-FR 5 40775056 40775056 single base substitution C T intron_variant LICA-FR 5 40775056 40775056 single base substitution C T missense_variant V128I 382G>A LICA-FR 5 40775056 40775056 single base substitution C T upstream_gene_variant LIHC-US 5 40762932 40762932 single base substitution G T downstream_gene_variant LIHC-US 5 40762932 40762932 single base substitution G T missense_variant T543K 1628C>A LIHC-US 5 40762932 40762932 single base substitution G T missense_variant T558K 1673C>A LIHC-US 5 40763061 40763061 single base substitution T C downstream_gene_variant LIHC-US 5 40763061 40763061 single base substitution T C missense_variant Y500C 1499A>G LIHC-US 5 40763061 40763061 single base substitution T C missense_variant Y515C 1544A>G LIHC-US 5 40777637 40777637 single base substitution C T exon_variant LIHC-US 5 40777637 40777637 single base substitution C T missense_variant R51Q 152G>A LIHC-US 5 40777637 40777637 single base substitution C T missense_variant R60Q 179G>A LINC-JP 5 40755111 40755111 single base substitution A C downstream_gene_variant LINC-JP 5 40763048 40763048 single base substitution T C downstream_gene_variant LINC-JP 5 40763048 40763048 single base substitution T C synonymous_variant Q504Q 1512A>G LINC-JP 5 40763048 40763048 single base substitution T C synonymous_variant Q519Q 1557A>G LINC-JP 5 40770756 40770756 single base substitution C T intron_variant LINC-JP 5 40789760 40789760 single base substitution T C intron_variant LIRI-JP 5 40754807 40754807 single base substitution G A downstream_gene_variant LIRI-JP 5 40755335 40755335 single base substitution A C downstream_gene_variant LIRI-JP 5 40755612 40755612 single base substitution C A downstream_gene_variant LIRI-JP 5 40756953 40756953 single base substitution G A downstream_gene_variant LIRI-JP 5 40757224 40757224 single base substitution G A downstream_gene_variant LIRI-JP 5 40757461 40757461 single base substitution C T downstream_gene_variant LIRI-JP 5 40757580 40757580 single base substitution G A downstream_gene_variant LIRI-JP 5 40759836 40759836 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 40759836 40759836 single base substitution A G downstream_gene_variant LIRI-JP 5 40759894 40759894 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 40759894 40759894 single base substitution A C downstream_gene_variant LIRI-JP 5 40760437 40760437 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 40760437 40760437 single base substitution A G downstream_gene_variant LIRI-JP 5 40761517 40761517 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 40761517 40761517 single base substitution A C downstream_gene_variant LIRI-JP 5 40766280 40766286 deletion of <=200bp TGCCGTG - downstream_gene_variant LIRI-JP 5 40766280 40766286 deletion of <=200bp TGCCGTG - intron_variant LIRI-JP 5 40766280 40766286 deletion of <=200bp TGCCGTG - upstream_gene_variant LIRI-JP 5 40766656 40766656 single base substitution C A downstream_gene_variant LIRI-JP 5 40766656 40766656 single base substitution C A intron_variant LIRI-JP 5 40766656 40766656 single base substitution C A upstream_gene_variant LIRI-JP 5 40767293 40767293 single base substitution T C downstream_gene_variant LIRI-JP 5 40767293 40767293 single base substitution T C intron_variant LIRI-JP 5 40767293 40767293 single base substitution T C upstream_gene_variant LIRI-JP 5 40771246 40771246 single base substitution C T intron_variant LIRI-JP 5 40771525 40771525 single base substitution G T intron_variant LIRI-JP 5 40780132 40780132 single base substitution T A intron_variant LIRI-JP 5 40782349 40782349 single base substitution T C intron_variant LIRI-JP 5 40783042 40783042 single base substitution T A intron_variant LIRI-JP 5 40783147 40783147 single base substitution A G intron_variant LIRI-JP 5 40783284 40783284 single base substitution A C intron_variant LIRI-JP 5 40783546 40783547 deletion of <=200bp TG - intron_variant LIRI-JP 5 40785999 40785999 single base substitution T C intron_variant LIRI-JP 5 40787848 40787848 single base substitution C G intron_variant LIRI-JP 5 40788102 40788102 single base substitution A C intron_variant LIRI-JP 5 40789760 40789760 single base substitution T C intron_variant LIRI-JP 5 40790000 40790000 single base substitution T C intron_variant LIRI-JP 5 40791878 40791878 single base substitution A C intron_variant LIRI-JP 5 40792839 40792839 single base substitution T C intron_variant LIRI-JP 5 40793023 40793023 single base substitution G C intron_variant LIRI-JP 5 40793719 40793719 single base substitution T C intron_variant LIRI-JP 5 40793795 40793795 single base substitution T C intron_variant LIRI-JP 5 40796089 40796089 single base substitution T A intron_variant LIRI-JP 5 40796138 40796138 single base substitution G A intron_variant LIRI-JP 5 40797093 40797093 single base substitution C T intron_variant LUSC-KR 5 40754827 40754827 single base substitution G C downstream_gene_variant LUSC-KR 5 40756174 40756174 single base substitution C A downstream_gene_variant LUSC-KR 5 40761275 40761275 single base substitution G A 3_prime_UTR_variant LUSC-KR 5 40761275 40761275 single base substitution G A downstream_gene_variant LUSC-KR 5 40761294 40761294 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 40761294 40761294 single base substitution T C downstream_gene_variant LUSC-KR 5 40762390 40762390 single base substitution G A 3_prime_UTR_variant LUSC-KR 5 40762390 40762390 single base substitution G A downstream_gene_variant LUSC-KR 5 40768195 40768195 single base substitution C A downstream_gene_variant LUSC-KR 5 40768195 40768195 single base substitution C A intron_variant LUSC-KR 5 40768195 40768195 single base substitution C A upstream_gene_variant LUSC-KR 5 40770004 40770004 single base substitution C A intron_variant LUSC-KR 5 40771105 40771105 single base substitution A T intron_variant LUSC-KR 5 40772939 40772939 single base substitution T C downstream_gene_variant LUSC-KR 5 40772939 40772939 single base substitution T C intron_variant LUSC-KR 5 40772939 40772939 single base substitution T C upstream_gene_variant LUSC-KR 5 40779569 40779569 single base substitution C A intron_variant LUSC-KR 5 40784564 40784564 single base substitution C A intron_variant LUSC-KR 5 40795562 40795562 single base substitution A G intron_variant LUSC-KR 5 40796475 40796475 single base substitution C G intron_variant LUSC-KR 5 40797972 40797972 single base substitution A C intron_variant LUSC-KR 5 40801240 40801240 single base substitution T C upstream_gene_variant LUSC-KR 5 40801802 40801802 single base substitution T G upstream_gene_variant MALY-DE 5 40759768 40759768 single base substitution A T 3_prime_UTR_variant MALY-DE 5 40759768 40759768 single base substitution A T downstream_gene_variant MALY-DE 5 40760841 40760841 single base substitution C T 3_prime_UTR_variant MALY-DE 5 40760841 40760841 single base substitution C T downstream_gene_variant MALY-DE 5 40766598 40766598 single base substitution G A downstream_gene_variant MALY-DE 5 40766598 40766598 single base substitution G A intron_variant MALY-DE 5 40766598 40766598 single base substitution G A upstream_gene_variant MALY-DE 5 40769407 40769407 single base substitution C T intron_variant MALY-DE 5 40769407 40769407 single base substitution C T upstream_gene_variant MALY-DE 5 40770222 40770222 single base substitution A G intron_variant MALY-DE 5 40794064 40794064 single base substitution C T intron_variant MALY-DE 5 40794065 40794065 single base substitution G A intron_variant MALY-DE 5 40797915 40797915 single base substitution A C intron_variant MALY-DE 5 40802494 40802494 single base substitution C G upstream_gene_variant MELA-AU 5 40755388 40755388 single base substitution C A downstream_gene_variant MELA-AU 5 40757215 40757215 single base substitution G A downstream_gene_variant MELA-AU 5 40758749 40758749 single base substitution T C downstream_gene_variant MELA-AU 5 40759751 40759751 single base substitution G A 3_prime_UTR_variant MELA-AU 5 40759751 40759751 single base substitution G A downstream_gene_variant MELA-AU 5 40762303 40762304 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 40762303 40762304 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 40762427 40762427 single base substitution G A 3_prime_UTR_variant MELA-AU 5 40762427 40762427 single base substitution G A downstream_gene_variant MELA-AU 5 40764278 40764278 single base substitution G A downstream_gene_variant MELA-AU 5 40764278 40764278 single base substitution G A intron_variant MELA-AU 5 40764297 40764297 single base substitution C G downstream_gene_variant MELA-AU 5 40764297 40764297 single base substitution C G intron_variant MELA-AU 5 40764629 40764629 single base substitution G A downstream_gene_variant MELA-AU 5 40764629 40764629 single base substitution G A exon_variant MELA-AU 5 40764629 40764629 single base substitution G A synonymous_variant F474F 1422C>T MELA-AU 5 40764629 40764629 single base substitution G A synonymous_variant F489F 1467C>T MELA-AU 5 40765037 40765037 single base substitution T A downstream_gene_variant MELA-AU 5 40765037 40765037 single base substitution T A exon_variant MELA-AU 5 40765037 40765037 single base substitution T A synonymous_variant V375V 1125A>T MELA-AU 5 40765037 40765037 single base substitution T A synonymous_variant V390V 1170A>T MELA-AU 5 40765037 40765037 single base substitution T A upstream_gene_variant MELA-AU 5 40765083 40765083 single base substitution G A downstream_gene_variant MELA-AU 5 40765083 40765083 single base substitution G A exon_variant MELA-AU 5 40765083 40765083 single base substitution G A missense_variant S360F 1079C>T MELA-AU 5 40765083 40765083 single base substitution G A missense_variant S375F 1124C>T MELA-AU 5 40765083 40765083 single base substitution G A upstream_gene_variant MELA-AU 5 40765180 40765180 single base substitution G A downstream_gene_variant MELA-AU 5 40765180 40765180 single base substitution G A exon_variant MELA-AU 5 40765180 40765180 single base substitution G A stop_gained Q328* 982C>T MELA-AU 5 40765180 40765180 single base substitution G A stop_gained Q343* 1027C>T MELA-AU 5 40765180 40765180 single base substitution G A upstream_gene_variant MELA-AU 5 40765348 40765348 single base substitution A C downstream_gene_variant MELA-AU 5 40765348 40765348 single base substitution A C intron_variant MELA-AU 5 40765348 40765348 single base substitution A C splice_region_variant MELA-AU 5 40765348 40765348 single base substitution A C upstream_gene_variant MELA-AU 5 40765473 40765473 single base substitution G A downstream_gene_variant MELA-AU 5 40765473 40765473 single base substitution G A intron_variant MELA-AU 5 40765473 40765473 single base substitution G A upstream_gene_variant MELA-AU 5 40765517 40765517 single base substitution G T downstream_gene_variant MELA-AU 5 40765517 40765517 single base substitution G T intron_variant MELA-AU 5 40765517 40765517 single base substitution G T upstream_gene_variant MELA-AU 5 40765862 40765862 single base substitution A C downstream_gene_variant MELA-AU 5 40765862 40765862 single base substitution A C intron_variant MELA-AU 5 40765862 40765862 single base substitution A C upstream_gene_variant MELA-AU 5 40766048 40766048 single base substitution C T downstream_gene_variant MELA-AU 5 40766048 40766048 single base substitution C T intron_variant MELA-AU 5 40766048 40766048 single base substitution C T upstream_gene_variant MELA-AU 5 40766049 40766049 single base substitution G A downstream_gene_variant MELA-AU 5 40766049 40766049 single base substitution G A intron_variant MELA-AU 5 40766049 40766049 single base substitution G A upstream_gene_variant MELA-AU 5 40766132 40766132 single base substitution G A downstream_gene_variant MELA-AU 5 40766132 40766132 single base substitution G A intron_variant MELA-AU 5 40766132 40766132 single base substitution G A upstream_gene_variant MELA-AU 5 40766781 40766781 single base substitution C A downstream_gene_variant MELA-AU 5 40766781 40766781 single base substitution C A intron_variant MELA-AU 5 40766781 40766781 single base substitution C A upstream_gene_variant MELA-AU 5 40767110 40767110 single base substitution A C downstream_gene_variant MELA-AU 5 40767110 40767110 single base substitution A C intron_variant MELA-AU 5 40767110 40767110 single base substitution A C upstream_gene_variant MELA-AU 5 40767692 40767692 single base substitution G A downstream_gene_variant MELA-AU 5 40767692 40767692 single base substitution G A exon_variant MELA-AU 5 40767692 40767692 single base substitution G A missense_variant L233F 697C>T MELA-AU 5 40767692 40767692 single base substitution G A missense_variant L248F 742C>T MELA-AU 5 40767692 40767692 single base substitution G A upstream_gene_variant MELA-AU 5 40768925 40768925 single base substitution T C 3_prime_UTR_variant MELA-AU 5 40768925 40768925 single base substitution T C intron_variant MELA-AU 5 40768925 40768925 single base substitution T C upstream_gene_variant MELA-AU 5 40769465 40769465 single base substitution G A intron_variant MELA-AU 5 40769465 40769465 single base substitution G A upstream_gene_variant MELA-AU 5 40770546 40770546 single base substitution G A intron_variant MELA-AU 5 40770641 40770641 single base substitution C T intron_variant MELA-AU 5 40771760 40771760 single base substitution G C intron_variant MELA-AU 5 40772173 40772173 single base substitution G A downstream_gene_variant MELA-AU 5 40772173 40772173 single base substitution G A intron_variant MELA-AU 5 40772173 40772173 single base substitution G A upstream_gene_variant MELA-AU 5 40772754 40772754 single base substitution G A downstream_gene_variant MELA-AU 5 40772754 40772754 single base substitution G A intron_variant MELA-AU 5 40772754 40772754 single base substitution G A upstream_gene_variant MELA-AU 5 40773058 40773058 single base substitution C T downstream_gene_variant MELA-AU 5 40773058 40773058 single base substitution C T intron_variant MELA-AU 5 40773058 40773058 single base substitution C T upstream_gene_variant MELA-AU 5 40773380 40773380 single base substitution G A downstream_gene_variant MELA-AU 5 40773380 40773380 single base substitution G A intron_variant MELA-AU 5 40773380 40773380 single base substitution G A upstream_gene_variant MELA-AU 5 40774150 40774150 single base substitution A C downstream_gene_variant MELA-AU 5 40774150 40774150 single base substitution A C intron_variant MELA-AU 5 40774150 40774150 single base substitution A C upstream_gene_variant MELA-AU 5 40774696 40774697 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 40774696 40774697 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 40774696 40774697 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 40775070 40775070 single base substitution G A downstream_gene_variant MELA-AU 5 40775070 40775070 single base substitution G A intron_variant MELA-AU 5 40775070 40775070 single base substitution G A missense_variant S123F 368C>T MELA-AU 5 40775070 40775070 single base substitution G A upstream_gene_variant MELA-AU 5 40776740 40776740 single base substitution G A downstream_gene_variant MELA-AU 5 40776740 40776740 single base substitution G A intron_variant MELA-AU 5 40776740 40776740 single base substitution G A upstream_gene_variant MELA-AU 5 40777087 40777087 single base substitution G A downstream_gene_variant MELA-AU 5 40777087 40777087 single base substitution G A intron_variant MELA-AU 5 40777947 40777947 single base substitution G A intron_variant MELA-AU 5 40778092 40778092 single base substitution C G intron_variant MELA-AU 5 40778804 40778804 single base substitution G A intron_variant MELA-AU 5 40778833 40778833 single base substitution T C intron_variant MELA-AU 5 40780803 40780803 single base substitution G A intron_variant MELA-AU 5 40781559 40781559 single base substitution G A intron_variant MELA-AU 5 40781925 40781925 single base substitution G A intron_variant MELA-AU 5 40782008 40782008 single base substitution C T intron_variant MELA-AU 5 40782499 40782499 single base substitution G A intron_variant MELA-AU 5 40782679 40782679 single base substitution T C intron_variant MELA-AU 5 40783085 40783085 single base substitution A G intron_variant MELA-AU 5 40783265 40783265 single base substitution G A intron_variant MELA-AU 5 40783394 40783394 single base substitution G A intron_variant MELA-AU 5 40783471 40783471 single base substitution A T intron_variant MELA-AU 5 40783848 40783848 single base substitution G A intron_variant MELA-AU 5 40785204 40785204 single base substitution G C intron_variant MELA-AU 5 40785626 40785626 deletion of <=200bp A - intron_variant MELA-AU 5 40786115 40786115 single base substitution G T intron_variant MELA-AU 5 40786623 40786623 single base substitution A C intron_variant MELA-AU 5 40786634 40786634 single base substitution G A intron_variant MELA-AU 5 40786670 40786670 single base substitution T C intron_variant MELA-AU 5 40786744 40786744 single base substitution A G intron_variant MELA-AU 5 40787643 40787643 single base substitution T G intron_variant MELA-AU 5 40787988 40787988 single base substitution A G intron_variant MELA-AU 5 40788275 40788275 single base substitution C G intron_variant MELA-AU 5 40788437 40788437 single base substitution G A intron_variant MELA-AU 5 40788664 40788664 single base substitution G A intron_variant MELA-AU 5 40789000 40789000 single base substitution A G intron_variant MELA-AU 5 40789599 40789599 single base substitution C T intron_variant MELA-AU 5 40790441 40790441 single base substitution G C intron_variant MELA-AU 5 40790640 40790640 single base substitution T G intron_variant MELA-AU 5 40791568 40791569 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 40791807 40791807 single base substitution A G intron_variant MELA-AU 5 40791823 40791823 single base substitution T C intron_variant MELA-AU 5 40792381 40792381 single base substitution A C intron_variant MELA-AU 5 40792692 40792692 single base substitution T A intron_variant MELA-AU 5 40792793 40792793 single base substitution G A intron_variant MELA-AU 5 40793481 40793481 single base substitution C T intron_variant MELA-AU 5 40794099 40794099 single base substitution G A intron_variant MELA-AU 5 40794179 40794179 single base substitution G A intron_variant MELA-AU 5 40795516 40795516 single base substitution T A intron_variant MELA-AU 5 40795993 40795993 single base substitution G A intron_variant MELA-AU 5 40796424 40796424 single base substitution A C intron_variant MELA-AU 5 40796490 40796490 single base substitution G A intron_variant MELA-AU 5 40796706 40796706 single base substitution G A intron_variant MELA-AU 5 40798880 40798880 single base substitution C T upstream_gene_variant MELA-AU 5 40799543 40799543 single base substitution G A upstream_gene_variant MELA-AU 5 40799970 40799970 single base substitution T A upstream_gene_variant MELA-AU 5 40800035 40800035 single base substitution C T upstream_gene_variant MELA-AU 5 40800686 40800686 single base substitution C T upstream_gene_variant MELA-AU 5 40802411 40802411 single base substitution T C upstream_gene_variant MELA-AU 5 40802467 40802467 single base substitution C T upstream_gene_variant MELA-AU 5 40803313 40803313 single base substitution C T upstream_gene_variant ORCA-IN 5 40779348 40779348 single base substitution T C intron_variant ORCA-IN 5 40787085 40787085 single base substitution G C intron_variant OV-AU 5 40754530 40754530 single base substitution C G downstream_gene_variant OV-AU 5 40754927 40754927 single base substitution T C downstream_gene_variant OV-AU 5 40755083 40755083 single base substitution T G downstream_gene_variant OV-AU 5 40769401 40769401 single base substitution A C intron_variant OV-AU 5 40769401 40769401 single base substitution A C upstream_gene_variant OV-AU 5 40771872 40771872 single base substitution G A exon_variant OV-AU 5 40771872 40771872 single base substitution G A missense_variant P144S 430C>T OV-AU 5 40771872 40771872 single base substitution G A missense_variant P153S 457C>T OV-AU 5 40771872 40771872 single base substitution G A missense_variant P168S 502C>T OV-AU 5 40799618 40799618 single base substitution G C upstream_gene_variant OV-AU 5 40801907 40801907 single base substitution A T upstream_gene_variant PACA-AU 5 40754779 40754779 single base substitution G A downstream_gene_variant PACA-AU 5 40756497 40756497 single base substitution G A downstream_gene_variant PACA-AU 5 40764125 40764125 single base substitution C A downstream_gene_variant PACA-AU 5 40764125 40764125 single base substitution C A intron_variant PACA-AU 5 40764126 40764126 single base substitution C A downstream_gene_variant PACA-AU 5 40764126 40764126 single base substitution C A intron_variant PACA-AU 5 40768013 40768013 single base substitution A G downstream_gene_variant PACA-AU 5 40768013 40768013 single base substitution A G intron_variant PACA-AU 5 40768013 40768013 single base substitution A G upstream_gene_variant PACA-AU 5 40775247 40775247 single base substitution A C downstream_gene_variant PACA-AU 5 40775247 40775247 single base substitution A C intron_variant PACA-AU 5 40775247 40775247 single base substitution A C upstream_gene_variant PACA-AU 5 40777051 40777051 single base substitution G A downstream_gene_variant PACA-AU 5 40777051 40777051 single base substitution G A intron_variant PACA-AU 5 40777907 40777907 single base substitution G A intron_variant PACA-AU 5 40779234 40779234 single base substitution A G intron_variant PACA-AU 5 40787813 40787813 deletion of <=200bp G - intron_variant PACA-AU 5 40789271 40789271 single base substitution C T intron_variant PACA-AU 5 40790546 40790546 single base substitution C A intron_variant PACA-AU 5 40793601 40793604 deletion of <=200bp TACT - intron_variant PACA-AU 5 40797488 40797488 single base substitution G T intron_variant PACA-AU 5 40798240 40798240 single base substitution G A exon_variant PACA-AU 5 40798240 40798240 single base substitution G A missense_variant H18Y 52C>T PACA-AU 5 40798240 40798240 single base substitution G A missense_variant H9Y 25C>T PACA-AU 5 40802083 40802083 single base substitution G A upstream_gene_variant PACA-AU 5 40802397 40802397 single base substitution C T upstream_gene_variant PACA-CA 5 40761288 40761288 single base substitution G A 3_prime_UTR_variant PACA-CA 5 40761288 40761288 single base substitution G A downstream_gene_variant PACA-CA 5 40761711 40761711 deletion of <=200bp G - 3_prime_UTR_variant PACA-CA 5 40761711 40761711 deletion of <=200bp G - downstream_gene_variant PACA-CA 5 40762202 40762202 single base substitution G A 3_prime_UTR_variant PACA-CA 5 40762202 40762202 single base substitution G A downstream_gene_variant PACA-CA 5 40765050 40765050 single base substitution T C downstream_gene_variant PACA-CA 5 40765050 40765050 single base substitution T C exon_variant PACA-CA 5 40765050 40765050 single base substitution T C missense_variant H371R 1112A>G PACA-CA 5 40765050 40765050 single base substitution T C missense_variant H386R 1157A>G PACA-CA 5 40765050 40765050 single base substitution T C upstream_gene_variant PACA-CA 5 40766023 40766023 single base substitution G A downstream_gene_variant PACA-CA 5 40766023 40766023 single base substitution G A intron_variant PACA-CA 5 40766023 40766023 single base substitution G A upstream_gene_variant PACA-CA 5 40766267 40766267 single base substitution G A downstream_gene_variant PACA-CA 5 40766267 40766267 single base substitution G A intron_variant PACA-CA 5 40766267 40766267 single base substitution G A upstream_gene_variant PACA-CA 5 40766570 40766570 single base substitution G A downstream_gene_variant PACA-CA 5 40766570 40766570 single base substitution G A intron_variant PACA-CA 5 40766570 40766570 single base substitution G A upstream_gene_variant PACA-CA 5 40766600 40766600 single base substitution C T downstream_gene_variant PACA-CA 5 40766600 40766600 single base substitution C T intron_variant PACA-CA 5 40766600 40766600 single base substitution C T upstream_gene_variant PACA-CA 5 40767120 40767120 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 40767120 40767120 deletion of <=200bp A - intron_variant PACA-CA 5 40767120 40767120 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 40773064 40773064 single base substitution A G downstream_gene_variant PACA-CA 5 40773064 40773064 single base substitution A G intron_variant PACA-CA 5 40773064 40773064 single base substitution A G upstream_gene_variant PACA-CA 5 40773382 40773382 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 40773382 40773382 insertion of <=200bp - A intron_variant PACA-CA 5 40773382 40773382 insertion of <=200bp - A upstream_gene_variant PACA-CA 5 40779847 40779847 single base substitution A T intron_variant PACA-CA 5 40780495 40780495 single base substitution G C intron_variant PACA-CA 5 40781840 40781840 insertion of <=200bp - A intron_variant PACA-CA 5 40783119 40783119 single base substitution A T intron_variant PACA-CA 5 40787654 40787654 single base substitution C A intron_variant PACA-CA 5 40788157 40788157 deletion of <=200bp A - intron_variant PACA-CA 5 40788856 40788856 single base substitution G A intron_variant PACA-CA 5 40788943 40788943 single base substitution A G intron_variant PACA-CA 5 40790154 40790154 single base substitution T A intron_variant PACA-CA 5 40794945 40794945 single base substitution A G intron_variant PACA-CA 5 40795080 40795080 single base substitution G C intron_variant PACA-CA 5 40795136 40795136 insertion of <=200bp - ACACAA intron_variant PACA-CA 5 40799828 40799828 single base substitution G T upstream_gene_variant PACA-CA 5 40802764 40802764 single base substitution G A upstream_gene_variant PAEN-IT 5 40781638 40781638 single base substitution G A intron_variant PAEN-IT 5 40795327 40795327 single base substitution T C intron_variant PAEN-IT 5 40802259 40802259 single base substitution G A upstream_gene_variant PBCA-DE 5 40759476 40759476 single base substitution C T downstream_gene_variant PBCA-DE 5 40764440 40764440 single base substitution T C downstream_gene_variant PBCA-DE 5 40764440 40764440 single base substitution T C exon_variant PBCA-DE 5 40764440 40764440 single base substitution T C intron_variant PBCA-DE 5 40765589 40765589 deletion of <=200bp G - downstream_gene_variant PBCA-DE 5 40765589 40765589 deletion of <=200bp G - intron_variant PBCA-DE 5 40765589 40765589 deletion of <=200bp G - upstream_gene_variant PBCA-DE 5 40770222 40770222 single base substitution A G intron_variant PBCA-DE 5 40780694 40780694 single base substitution G C intron_variant PBCA-DE 5 40781847 40781847 single base substitution C A intron_variant PBCA-DE 5 40782912 40782912 single base substitution C T intron_variant PBCA-DE 5 40799864 40799864 single base substitution C T upstream_gene_variant PBCA-DE 5 40800358 40800358 single base substitution C G upstream_gene_variant PRAD-CA 5 40755686 40755686 single base substitution A C downstream_gene_variant PRAD-CA 5 40790640 40790640 single base substitution T G intron_variant PRAD-CA 5 40796964 40796964 single base substitution A G intron_variant PRAD-UK 5 40755927 40755927 single base substitution T C downstream_gene_variant PRAD-UK 5 40759641 40759641 single base substitution T C 3_prime_UTR_variant PRAD-UK 5 40759641 40759641 single base substitution T C downstream_gene_variant PRAD-UK 5 40768107 40768107 single base substitution G A downstream_gene_variant PRAD-UK 5 40768107 40768107 single base substitution G A intron_variant PRAD-UK 5 40768107 40768107 single base substitution G A upstream_gene_variant PRAD-UK 5 40792863 40792863 single base substitution C A intron_variant PRAD-UK 5 40797793 40797793 single base substitution A T intron_variant PRAD-UK 5 40801365 40801365 single base substitution G A upstream_gene_variant PRAD-UK 5 40801468 40801468 single base substitution G A upstream_gene_variant PRAD-UK 5 40803388 40803388 single base substitution C A upstream_gene_variant READ-US 5 40775046 40775046 single base substitution G A downstream_gene_variant READ-US 5 40775046 40775046 single base substitution G A intron_variant READ-US 5 40775046 40775046 single base substitution G A missense_variant T131I 392C>T READ-US 5 40775046 40775046 single base substitution G A upstream_gene_variant RECA-EU 5 40763529 40763529 single base substitution A T downstream_gene_variant RECA-EU 5 40763529 40763529 single base substitution A T intron_variant RECA-EU 5 40764189 40764189 single base substitution T A downstream_gene_variant RECA-EU 5 40764189 40764189 single base substitution T A intron_variant RECA-EU 5 40768243 40768243 single base substitution T G downstream_gene_variant RECA-EU 5 40768243 40768243 single base substitution T G intron_variant RECA-EU 5 40768243 40768243 single base substitution T G upstream_gene_variant RECA-EU 5 40769506 40769506 single base substitution A T intron_variant RECA-EU 5 40769506 40769506 single base substitution A T upstream_gene_variant RECA-EU 5 40771579 40771579 single base substitution G A intron_variant RECA-EU 5 40774652 40774652 single base substitution T C downstream_gene_variant RECA-EU 5 40774652 40774652 single base substitution T C intron_variant RECA-EU 5 40774652 40774652 single base substitution T C upstream_gene_variant RECA-EU 5 40775908 40775908 single base substitution T A downstream_gene_variant RECA-EU 5 40775908 40775908 single base substitution T A intron_variant RECA-EU 5 40775908 40775908 single base substitution T A upstream_gene_variant RECA-EU 5 40790629 40790629 single base substitution T C intron_variant RECA-EU 5 40790818 40790818 single base substitution T C intron_variant RECA-EU 5 40791469 40791469 single base substitution T A intron_variant RECA-EU 5 40796188 40796188 single base substitution G T intron_variant SKCA-BR 5 40755786 40755786 single base substitution A C downstream_gene_variant SKCA-BR 5 40756508 40756508 single base substitution A T downstream_gene_variant SKCA-BR 5 40757041 40757041 single base substitution C T downstream_gene_variant SKCA-BR 5 40767821 40767821 single base substitution A G downstream_gene_variant SKCA-BR 5 40767821 40767821 single base substitution A G intron_variant SKCA-BR 5 40767821 40767821 single base substitution A G upstream_gene_variant SKCA-BR 5 40767994 40767994 single base substitution G A downstream_gene_variant SKCA-BR 5 40767994 40767994 single base substitution G A intron_variant SKCA-BR 5 40767994 40767994 single base substitution G A upstream_gene_variant SKCA-BR 5 40770526 40770526 insertion of <=200bp - CCACTG intron_variant SKCA-BR 5 40783163 40783163 single base substitution T C intron_variant SKCA-BR 5 40791672 40791672 single base substitution G C intron_variant SKCA-BR 5 40793384 40793384 single base substitution C G intron_variant SKCA-BR 5 40793696 40793696 single base substitution C G intron_variant SKCA-BR 5 40794203 40794203 insertion of <=200bp - CA intron_variant SKCA-BR 5 40795108 40795108 single base substitution T C intron_variant SKCA-BR 5 40795110 40795110 single base substitution T C intron_variant SKCA-BR 5 40798348 40798348 single base substitution A G 5_prime_UTR_variant SKCA-BR 5 40798348 40798348 single base substitution A G upstream_gene_variant SKCM-US 5 40764629 40764629 single base substitution G A downstream_gene_variant SKCM-US 5 40764629 40764629 single base substitution G A exon_variant SKCM-US 5 40764629 40764629 single base substitution G A synonymous_variant F474F 1422C>T SKCM-US 5 40764629 40764629 single base substitution G A synonymous_variant F489F 1467C>T SKCM-US 5 40764857 40764857 single base substitution C T downstream_gene_variant SKCM-US 5 40764857 40764857 single base substitution C T exon_variant SKCM-US 5 40764857 40764857 single base substitution C T stop_gained W435* 1305G>A SKCM-US 5 40764857 40764857 single base substitution C T stop_gained W450* 1350G>A STAD-US 5 40764627 40764627 single base substitution C T downstream_gene_variant STAD-US 5 40764627 40764627 single base substitution C T exon_variant STAD-US 5 40764627 40764627 single base substitution C T missense_variant R475H 1424G>A STAD-US 5 40764627 40764627 single base substitution C T missense_variant R490H 1469G>A STAD-US 5 40767575 40767575 single base substitution C A downstream_gene_variant STAD-US 5 40767575 40767575 single base substitution C A exon_variant STAD-US 5 40767575 40767575 single base substitution C A missense_variant D272Y 814G>T STAD-US 5 40767575 40767575 single base substitution C A missense_variant D287Y 859G>T STAD-US 5 40767575 40767575 single base substitution C A upstream_gene_variant STAD-US 5 40767586 40767586 single base substitution G A downstream_gene_variant STAD-US 5 40767586 40767586 single base substitution G A exon_variant STAD-US 5 40767586 40767586 single base substitution G A missense_variant A268V 803C>T STAD-US 5 40767586 40767586 single base substitution G A missense_variant A283V 848C>T STAD-US 5 40767586 40767586 single base substitution G A upstream_gene_variant STAD-US 5 40769572 40769572 deletion of <=200bp A - exon_variant STAD-US 5 40769572 40769572 deletion of <=200bp A - frameshift_variant L172 STAD-US 5 40769572 40769572 deletion of <=200bp A - frameshift_variant L181 STAD-US 5 40769572 40769572 deletion of <=200bp A - frameshift_variant L196 STAD-US 5 40769572 40769572 deletion of <=200bp A - intron_variant STAD-US 5 40769572 40769572 deletion of <=200bp A - upstream_gene_variant STAD-US 5 40775544 40775546 deletion of <=200bp CTC - disruptive_inframe_deletion GE101E STAD-US 5 40775544 40775546 deletion of <=200bp CTC - disruptive_inframe_deletion GE110E STAD-US 5 40775544 40775546 deletion of <=200bp CTC - downstream_gene_variant STAD-US 5 40775544 40775546 deletion of <=200bp CTC - exon_variant STAD-US 5 40775544 40775546 deletion of <=200bp CTC - upstream_gene_variant STAD-US 5 40777625 40777625 single base substitution C T exon_variant STAD-US 5 40777625 40777625 single base substitution C T missense_variant R55Q 164G>A STAD-US 5 40777625 40777625 single base substitution C T missense_variant R64Q 191G>A UCEC-US 5 40762891 40762891 single base substitution G T downstream_gene_variant UCEC-US 5 40762891 40762891 single base substitution G T missense_variant L557I 1669C>A UCEC-US 5 40762891 40762891 single base substitution G T missense_variant L572I 1714C>A UCEC-US 5 40762927 40762927 single base substitution C A downstream_gene_variant UCEC-US 5 40762927 40762927 single base substitution C A stop_gained E545* 1633G>T UCEC-US 5 40762927 40762927 single base substitution C A stop_gained E560* 1678G>T UCEC-US 5 40764721 40764721 single base substitution G A downstream_gene_variant UCEC-US 5 40764721 40764721 single base substitution G A exon_variant UCEC-US 5 40764721 40764721 single base substitution G A missense_variant R444C 1330C>T UCEC-US 5 40764721 40764721 single base substitution G A missense_variant R459C 1375C>T UCEC-US 5 40764941 40764941 single base substitution C T downstream_gene_variant UCEC-US 5 40764941 40764941 single base substitution C T exon_variant UCEC-US 5 40764941 40764941 single base substitution C T stop_gained W407* 1221G>A UCEC-US 5 40764941 40764941 single base substitution C T stop_gained W422* 1266G>A UCEC-US 5 40764941 40764941 single base substitution C T upstream_gene_variant UCEC-US 5 40765114 40765114 single base substitution C A downstream_gene_variant UCEC-US 5 40765114 40765114 single base substitution C A exon_variant UCEC-US 5 40765114 40765114 single base substitution C A missense_variant D350Y 1048G>T UCEC-US 5 40765114 40765114 single base substitution C A missense_variant D365Y 1093G>T UCEC-US 5 40765114 40765114 single base substitution C A upstream_gene_variant UCEC-US 5 40777567 40777567 single base substitution C T exon_variant UCEC-US 5 40777567 40777567 single base substitution C T synonymous_variant R74R 222G>A UCEC-US 5 40777567 40777567 single base substitution C T synonymous_variant R83R 249G>A UCEC-US 5 40777575 40777575 single base substitution G C exon_variant UCEC-US 5 40777575 40777575 single base substitution G C missense_variant L72V 214C>G UCEC-US 5 40777575 40777575 single base substitution G C missense_variant L81V 241C>G UCEC-US 5 40798287 40798287 single base substitution C T exon_variant UCEC-US 5 40798287 40798287 single base substitution C T missense_variant R2H 5G>A UCEC-US 5 40798287 40798287 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PAPNNX COSM5005086 c.383G>A p.R128Q Substitution - Missense 5:40771844-40771844 - AOCS-139-19-0 COSM4141818 c.457C>T p.P153S Substitution - Missense 5:40771770-40771770 - TCGA-AA-3510-01 COSM1437554 c.1438G>A p.E480K Substitution - Missense 5:40763020-40763020 - QC2-34-T2 COSM5654733 c.1592C>T p.S531F Substitution - Missense 5:40762866-40762866 - B59-3 COSM1754284 c.660T>C p.C220C Substitution - coding silent 5:40767627-40767627 - TCGA-D5-6927-01 COSM1437556 c.1157G>A p.R386H Substitution - Missense 5:40764903-40764903 - B59-3-Tumor COSM1754284 c.660T>C p.C220C Substitution - coding silent 5:40767627-40767627 - BN37 COSM1620332 c.1512A>G p.Q504Q Substitution - coding silent 5:40762946-40762946 - B77-Tumor COSM1754280 c.1062G>A p.A354A Substitution - coding silent 5:40764998-40764998 - B96-Tumor COSM1754282 c.736C>G p.Q246E Substitution - Missense 5:40767551-40767551 - TCGA-C8-A12P-01 COSM1486780 c.114C>T p.F38F Substitution - coding silent 5:40798076-40798076 - C113 COSM4441257 c.1213G>A p.A405T Substitution - Missense 5:40764847-40764847 - HCC066T COSM5821132 c.247A>T p.R83W Substitution - Missense 5:40777467-40777467 - CSCC-41-T COSM4521068 c.1048G>A p.D350N Substitution - Missense 5:40765012-40765012 - T578 COSM2689910 c.179G>A p.R60Q Substitution - Missense 5:40777535-40777535 - D11 COSM4606459 c.1007A>G p.H336R Substitution - Missense 5:40765053-40765053 - TCGA-KR-A7K0-01 COSM4918151 c.1628C>A p.T543K Substitution - Missense 5:40762830-40762830 - 61 COSM5737215 c.1615C>A p.P539T Substitution - Missense 5:40762843-40762843 - B22 COSM1754286 c.274C>T p.Q92* Substitution - Nonsense 5:40775499-40775499 - PT47 COSM5930258 c.1126C>T p.P376S Substitution - Missense 5:40764934-40764934 - HCT15 COSM2689865 c.1383G>A p.Q461Q Substitution - coding silent 5:40764566-40764566 - TCGA-A2-A0CO-01 COSM3828068 c.1451C>A p.A484D Substitution - Missense 5:40763007-40763007 - TCGA-CA-6717-01 COSM1437562 c.128-1G>A p.? Unknown 5:40777587-40777587 - TCGA-AX-A063-01 COSM1068158 c.1221G>A p.W407* Substitution - Nonsense 5:40764839-40764839 - TCGA-CM-6162-01 COSM1437558 c.1156C>T p.R386C Substitution - Missense 5:40764904-40764904 - B77 COSM1754280 c.1062G>A p.A354A Substitution - coding silent 5:40764998-40764998 - HCC1143 COSM33502 c.47A>G p.Q16R Substitution - Missense 5:40798143-40798143 - S02397 COSM5699338 c.1308G>T p.K436N Substitution - Missense 5:40764752-40764752 - S40_post COSM5574899 c.115G>T p.G39C Substitution - Missense 5:40798075-40798075 - TCGA-BR-6452-01 COSM3855272 c.191G>A p.R64Q Substitution - Missense 5:40777523-40777523 - RW7213 COSM4650041 c.36A>C p.T12T Substitution - coding silent 5:40798154-40798154 - CSCC-44-T COSM4446965 c.509-3C>G p.? Unknown 5:40769506-40769506 - S02376 COSM3784897 c.52C>T p.H18Y Substitution - Missense 5:40798138-40798138 - TCGA-AY-6197-01 COSM1437560 c.870G>T p.E290D Substitution - Missense 5:40765190-40765190 - DLD1 COSM2689865 c.1383G>A p.Q461Q Substitution - coding silent 5:40764566-40764566 - TCGA-D1-A16X-01 COSM1068160 c.1048G>T p.D350Y Substitution - Missense 5:40765012-40765012 - ESCC_163 COSM5648074 c.908C>A p.A303D Substitution - Missense 5:40765152-40765152 - TCGA-D7-8572-01 COSM3855266 c.1424G>A p.R475H Substitution - Missense 5:40764525-40764525 - TCGA-D1-A16X-01 COSM1068168 c.5G>A p.R2H Substitution - Missense 5:40798185-40798185 - TCGA-HU-A4GN-01 COSM3855270 c.803C>T p.A268V Substitution - Missense 5:40767484-40767484 - PD14460a COSM5780518 c.1058T>A p.L353* Substitution - Nonsense 5:40765002-40765002 - TCGA-A8-A09N-01 COSM1486779 c.318T>C p.Y106Y Substitution - coding silent 5:40775455-40775455 - TCGA-AX-A05Z-01 COSM1068152 c.1633G>T p.E545* Substitution - Nonsense 5:40762825-40762825 - CSCC-27-T COSM4495393 c.407C>T p.S136F Substitution - Missense 5:40771820-40771820 - ESCC_BICR_047T COSM5430427 c.246C>G p.F82L Substitution - Missense 5:40777468-40777468 - TCGA-CC-A7IK-01 COSM4925015 c.1499A>G p.Y500C Substitution - Missense 5:40762959-40762959 - Pat_63_B COSM1437554 c.1438G>A p.E480K Substitution - Missense 5:40763020-40763020 - TCGA-BH-A18V-01 COSM1486776 c.811A>C p.K271Q Substitution - Missense 5:40767476-40767476 - TCGA-E2-A1LA-01 COSM1486778 c.420T>C p.Y140Y Substitution - coding silent 5:40771807-40771807 - 2318503 COSM4777408 c.386G>A p.R129H Substitution - Missense 5:40771841-40771841 - 19M COSM5579395 c.1571C>T p.S524F Substitution - Missense 5:40762887-40762887 - YUKAT COSM5403494 c.209G>A p.G70E Substitution - Missense 5:40777505-40777505 - ESCC_163 COSM5648072 c.909C>A p.A303A Substitution - coding silent 5:40765151-40765151 - BN37T COSM1620332 c.1512A>G p.Q504Q Substitution - coding silent 5:40762946-40762946 - SNU-283 COSM2689889 c.819C>A p.I273I Substitution - coding silent 5:40767468-40767468 - B96 COSM1754282 c.736C>G p.Q246E Substitution - Missense 5:40767551-40767551 - TCGA-CW-5589-01 COSM1645896 c.693A>C p.P231P Substitution - coding silent 5:40767594-40767594 - TCGA-B5-A11N-01 COSM1068162 c.249G>A p.R83R Substitution - coding silent 5:40777465-40777465 - Single_Sample COSM4606459 c.1007A>G p.H336R Substitution - Missense 5:40765053-40765053 - Pat_59_B COSM5868531 c.1202G>A p.G401D Substitution - Missense 5:40764858-40764858 - ESCC-219T COSM3941319 c.1197C>T p.H399H Substitution - coding silent 5:40764863-40764863 - TCGA-BH-A0BM-01 COSM5835041 c.103_104insG p.V35fs*13 Insertion - Frameshift 5:40798086-40798087 - B22-Tumor COSM1754286 c.274C>T p.Q92* Substitution - Nonsense 5:40775499-40775499 - TCGA-AB-2816-03 COSM1319198 c.634G>T p.G212W Substitution - Missense 5:40767653-40767653 - TCGA-DU-7015-01 COSM3975542 c.1061C>T p.A354V Substitution - Missense 5:40764999-40764999 - Au4 COSM5604591 c.697C>T p.L233F Substitution - Missense 5:40767590-40767590 - HCC025T COSM5803571 c.346A>T p.I116F Substitution - Missense 5:40775427-40775427 - YULONE COSM5403496 c.44A>T p.K15M Substitution - Missense 5:40798146-40798146 - T2269 COSM4717645 c.1337G>A p.R446Q Substitution - Missense 5:40764612-40764612 - TCGA-CZ-5470-01 COSM1645897 c.1309-2A>G p.? Unknown 5:40764642-40764642 - TCGA-EE-A2MJ-06 COSM3616409 c.1305G>A p.W435* Substitution - Nonsense 5:40764755-40764755 - TCGA-FV-A3I0-01 COSM2689910 c.179G>A p.R60Q Substitution - Missense 5:40777535-40777535 - TCGA-BR-8680-01 COSM3855268 c.814G>T p.D272Y Substitution - Missense 5:40767473-40767473 - TCGA-AX-A05Z-01 COSM1068150 c.1669C>A p.L557I Substitution - Missense 5:40762789-40762789 - PTC-14C COSM4159873 c.749C>A p.P250H Substitution - Missense 5:40767538-40767538 - TCGA-EE-A2M5-06 COSM3920076 c.1422C>T p.F474F Substitution - coding silent 5:40764527-40764527 - TCGA-EY-A1GS-01 COSM1068164 c.241C>G p.L81V Substitution - Missense 5:40777473-40777473 - 8014771 COSM3784897 c.52C>T p.H18Y Substitution - Missense 5:40798138-40798138 - ZZUFHECRKL-G047T COSM5433930 c.1369A>T p.K457* Substitution - Nonsense 5:40764580-40764580 - LN229 COSM2689869 c.1348C>G p.P450A Substitution - Missense 5:40764601-40764601 - 399 COSM4429284 c.1589C>G p.S530C Substitution - Missense 5:40762869-40762869 - TCGA-D1-A17S-01 COSM1068156 c.1330C>T p.R444C Substitution - Missense 5:40764619-40764619 - P100 COSM5008838 c.1279G>A p.A427T Substitution - Missense 5:40764781-40764781 - TCGA-B5-A0JY-01 COSM1068152 c.1633G>T p.E545* Substitution - Nonsense 5:40762825-40762825 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.43322 5p12 602739 1513200|dbSNP|BC037303|A/C|non-coding||1669|Candidate; 1513200|dbSNP|BC048980|A/C|non-coding||1911|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.408+1368T>G 5 40773662 CLL A G Missense p.Q16R c.47A>G 5 40798245 BRCA A G Synonymous p.I28I c.84T>C 5 40798208 HNSC A G Synonymous p.Y106Y c.318T>C 5 40775557 BRCA A G Synonymous p.Y155Y c.465T>C 5 40771909 BRCA C A IntronicSNV . c.128-3066G>T 5 40780754 NSCLC C A IntronicSNV . c.128-3067G>T 5 40780755 NSCLC C A Missense p.R21L c.62G>T 5 40798230 LUAD C G Missense p.S428T c.1283G>C 5 40764924 LUAD C G SpliceAcceptorSNV . c.128-1G>C 5 40777689 HNSC C T Nonsense p.W422* c.1266G>A 5 40764941 UCEC C T Nonsense p.W450* c.1350G>A 5 40764857 CM C T Synonymous p.K9K c.27G>A 5 40798265 CM C T Synonymous p.R21R c.63G>A 5 40798229 COREAD G A Missense p.R459C c.1375C>T 5 40764721 UCEC G A Synonymous p.F38F c.114C>T 5 40798178 BRCA G A Synonymous p.F392F c.1176C>T 5 40765031 HNSC G A Synonymous p.F489F c.1467C>T 5 40764629 CM G A Synonymous p.I94I c.282C>T 5 40775593 HNSC G C Missense p.L81V c.241C>G 5 40777575 UCEC G C Missense p.P409A c.1225C>G 5 40764982 LUAD G T Missense p.H26N c.76C>A 5 40798216 HNSC T C Missense p.Y258C c.773A>G 5 40767661 HNSC T G Missense p.K286Q c.856A>C 5 40767578 BRCA T G Missense p.N264H c.790A>C 5 40767644 SCLC T G Synonymous p.G236G c.708A>C 5 40767726 STAD