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 1 227077809 227077809 + Silent SNP C C T TCGA-OR-A5J3-01A-11D-A29I-10 TCGA-OR-A5J3-10A-01D-A29L-10 g.chr1:227077809C>T c.861C>T c.(859-861)ccC>ccT p.P287P BLCA 1 227071519 227071519 + Silent SNP G G A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 g.chr1:227071519G>A c.255G>A c.(253-255)gcG>gcA p.A85A BLCA 1 227071519 227071519 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr1:227071519G>A c.255G>A c.(253-255)gcG>gcA p.A85A BLCA 1 227075809 227075809 + Missense_Mutation SNP G G C TCGA-GU-A764-01A-11D-A34U-08 TCGA-GU-A764-10B-01D-A34X-08 g.chr1:227075809G>C c.516G>C c.(514-516)ttG>ttC p.L172F BLCA 1 227079026 227079026 + Missense_Mutation SNP C C G TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr1:227079026C>G c.934C>G c.(934-936)Cag>Gag p.Q312E BRCA 1 227069694 227069694 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 g.chr1:227069694G>A c.86G>A c.(85-87)cGc>cAc p.R29H BRCA 1 227069706 227069706 + Missense_Mutation SNP A A G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 g.chr1:227069706A>G c.98A>G c.(97-99)gAg>gGg p.E33G BRCA 1 227076718 227076718 + Missense_Mutation SNP C C T TCGA-BH-A0DK-01A-21W-A071-09 TCGA-BH-A0DK-11A-13W-A100-09 g.chr1:227076718C>T c.755C>T c.(754-756)gCg>gTg p.A252V BRCA 1 227077759 227077759 + Missense_Mutation SNP A A G TCGA-AO-A0J8-01A-21D-A045-09 TCGA-AO-A0J8-10A-01W-A055-09 g.chr1:227077759A>G c.811A>G c.(811-813)Aaa>Gaa p.K271E CESC 1 227079026 227079026 + Nonsense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr1:227079026C>T c.934C>T c.(934-936)Cag>Tag p.Q312* CHOL 1 227076607 227076607 + Missense_Mutation SNP G G A TCGA-W5-AA2R-01A-11D-A417-09 TCGA-W5-AA2R-10A-01D-A41A-09 g.chr1:227076607G>A c.644G>A c.(643-645)gGc>gAc p.G215D COAD 1 227069688 227069688 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:227069688C>T c.80C>T c.(79-81)aCg>aTg p.T27M COAD 1 227071480 227071480 + Silent SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr1:227071480G>A c.216G>A c.(214-216)ccG>ccA p.P72P COAD 1 227071564 227071564 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:227071564C>T c.300C>T c.(298-300)atC>atT p.I100I COAD 1 227076603 227076603 + Missense_Mutation SNP G G A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:227076603G>A c.640G>A c.(640-642)Gtg>Atg p.V214M COAD 1 227076673 227076673 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:227076673C>T c.710C>T c.(709-711)gCg>gTg p.A237V COAD 1 227076694 227076694 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:227076694T>A c.731T>A c.(730-732)aTc>aAc p.I244N COAD 1 227076734 227076734 + Silent SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:227076734C>T c.771C>T c.(769-771)ggC>ggT p.G257G COAD 1 227077740 227077740 + Silent SNP C C T TCGA-AA-3842-01A-01W-0995-10 TCGA-AA-3842-10A-01W-0995-10 g.chr1:227077740C>T c.792C>T c.(790-792)ctC>ctT p.L264L COAD 1 227077817 227077817 + Missense_Mutation SNP C C A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:227077817C>A c.869C>A c.(868-870)cCt>cAt p.P290H COAD 1 227083168 227083168 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:227083168C>T c.1235C>T c.(1234-1236)gCg>gTg p.A412V COAD 1 227083196 227083196 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:227083196G>A c.1263G>A c.(1261-1263)acG>acA p.T421T COADREAD 1 227069688 227069688 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:227069688C>T c.80C>T c.(79-81)aCg>aTg p.T27M COADREAD 1 227071480 227071480 + Silent SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr1:227071480G>A c.216G>A c.(214-216)ccG>ccA p.P72P COADREAD 1 227071564 227071564 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:227071564C>T c.300C>T c.(298-300)atC>atT p.I100I COADREAD 1 227073296 227073296 + Silent SNP C C T TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr1:227073296C>T c.414C>T c.(412-414)tcC>tcT p.S138S COADREAD 1 227076603 227076603 + Missense_Mutation SNP G G A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:227076603G>A c.640G>A c.(640-642)Gtg>Atg p.V214M COADREAD 1 227076673 227076673 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:227076673C>T c.710C>T c.(709-711)gCg>gTg p.A237V COADREAD 1 227076694 227076694 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:227076694T>A c.731T>A c.(730-732)aTc>aAc p.I244N COADREAD 1 227076734 227076734 + Silent SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:227076734C>T c.771C>T c.(769-771)ggC>ggT p.G257G COADREAD 1 227077740 227077740 + Silent SNP C C T TCGA-AA-3842-01A-01W-0995-10 TCGA-AA-3842-10A-01W-0995-10 g.chr1:227077740C>T c.792C>T c.(790-792)ctC>ctT p.L264L COADREAD 1 227077817 227077817 + Missense_Mutation SNP C C A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:227077817C>A c.869C>A c.(868-870)cCt>cAt p.P290H COADREAD 1 227083168 227083168 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:227083168C>T c.1235C>T c.(1234-1236)gCg>gTg p.A412V COADREAD 1 227083196 227083196 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:227083196G>A c.1263G>A c.(1261-1263)acG>acA p.T421T ESCA 1 227078994 227078994 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:227078994C>T c.902C>T c.(901-903)aCg>aTg p.T301M GBMLGG 1 227071420 227071420 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:227071420C>T c.156C>T c.(154-156)aaC>aaT p.N52N HNSC 1 227069674 227069674 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 g.chr1:227069674G>A c.66G>A c.(64-66)tcG>tcA p.S22S HNSC 1 227071565 227071565 + Missense_Mutation SNP G G A TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr1:227071565G>A c.301G>A c.(301-303)Gtg>Atg p.V101M HNSC 1 227079502 227079502 + Silent SNP C C G TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr1:227079502C>G c.1029C>G c.(1027-1029)ccC>ccG p.P343P KIPAN 1 227073330 227073330 + Missense_Mutation SNP G G T TCGA-CZ-5469-01A-01D-1501-10 TCGA-CZ-5469-11A-01D-1501-10 g.chr1:227073330G>T c.448G>T c.(448-450)Gtg>Ttg p.V150L KIPAN 1 227076606 227076606 + Missense_Mutation SNP G G A TCGA-CZ-4857-01A-01D-1373-10 TCGA-CZ-4857-11A-01D-1373-10 g.chr1:227076606G>A c.643G>A c.(643-645)Ggc>Agc p.G215S KIRC 1 227073330 227073330 + Missense_Mutation SNP G G T TCGA-CZ-5469-01A-01D-1501-10 TCGA-CZ-5469-11A-01D-1501-10 g.chr1:227073330G>T c.448G>T c.(448-450)Gtg>Ttg p.V150L KIRC 1 227076606 227076606 + Missense_Mutation SNP G G A TCGA-CZ-4857-01A-01D-1373-10 TCGA-CZ-4857-11A-01D-1373-10 g.chr1:227076606G>A c.643G>A c.(643-645)Ggc>Agc p.G215S LGG 1 227071420 227071420 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:227071420C>T c.156C>T c.(154-156)aaC>aaT p.N52N LIHC 1 227073343 227073343 + Missense_Mutation SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:227073343T>C c.461T>C c.(460-462)aTc>aCc p.I154T LIHC 1 227076565 227076566 + Frame_Shift_Ins INS - - C TCGA-DD-AAE6-01A-11D-A40R-10 TCGA-DD-AAE6-10A-01D-A40U-10 g.chr1:227076565_227076566insC c.602_603insC c.(601-606)taccccfs p.YP201fs LUAD 1 227071533 227071534 + Frame_Shift_Ins INS - - CA TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 g.chr1:227071533_227071534insCA c.269_270insCA c.(268-273)atgctgfs p.ML90fs LUAD 1 227071592 227071592 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:227071592C>T c.328C>T c.(328-330)Cgc>Tgc p.R110C LUAD 1 227073239 227073239 + Splice_Site SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr1:227073239C>T c.357C>T c.(355-357)ctC>ctT p.L119L LUAD 1 227073315 227073335 + In_Frame_Del DEL ATGATCAGCGTCATCGTGGTT ATGATCAGCGTCATCGTGGTT - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr1:227073315_227073335delATGATCAGCGTCATCGTGGTT c.433_453delATGATCAGCGTCATCGTGGTT c.(433-453)atgatcagcgtcatcgtggttdel p.MISVIVV145del LUAD 1 227075801 227075801 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr1:227075801G>T c.508G>T c.(508-510)Ggc>Tgc p.G170C LUAD 1 227076648 227076648 + Missense_Mutation SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr1:227076648C>A c.685C>A c.(685-687)Cag>Aag p.Q229K LUAD 1 227076674 227076674 + Silent SNP G G T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr1:227076674G>T c.711G>T c.(709-711)gcG>gcT p.A237A LUAD 1 227081775 227081775 + Frame_Shift_Del DEL G G - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr1:227081775delG c.1140delG c.(1138-1140)acgfs p.T380fs LUAD 1 227083161 227083161 + Missense_Mutation SNP A A C TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr1:227083161A>C c.1228A>C c.(1228-1230)Aag>Cag p.K410Q LUAD 1 227083208 227083208 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:227083208C>G c.1275C>G c.(1273-1275)atC>atG p.I425M LUSC 1 227071548 227071548 + Missense_Mutation SNP T T C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr1:227071548T>C c.284T>C c.(283-285)gTc>gCc p.V95A LUSC 1 227079483 227079483 + Missense_Mutation SNP C C T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr1:227079483C>T c.1010C>T c.(1009-1011)cCc>cTc p.P337L LUSC 1 227079536 227079536 + Missense_Mutation SNP G G A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr1:227079536G>A c.1063G>A c.(1063-1065)Gag>Aag p.E355K OV 1 227076726 227076726 + Missense_Mutation SNP A A T TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 g.chr1:227076726A>T c.763A>T c.(763-765)Atc>Ttc p.I255F OV 1 227079449 227079449 + Missense_Mutation SNP G G A TCGA-36-2539-01A-01D-1526-09 TCGA-36-2539-10A-01D-1526-09 g.chr1:227079449G>A c.976G>A c.(976-978)Gac>Aac p.D326N PAAD 1 227077790 227077790 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:227077790C>T c.842C>T c.(841-843)gCc>gTc p.A281V PRAD 1 227083146 227083146 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:227083146C>T c.1213C>T c.(1213-1215)Ctg>Ttg p.L405L READ 1 227073296 227073296 + Silent SNP C C T TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr1:227073296C>T c.414C>T c.(412-414)tcC>tcT p.S138S SARC 1 227071405 227071405 + Splice_Site SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr1:227071405G>A c.e5-1 SKCM 1 227069665 227069665 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr1:227069665C>T c.57C>T c.(55-57)tcC>tcT p.S19S SKCM 1 227069743 227069743 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr1:227069743C>T c.135C>T c.(133-135)gcC>gcT p.A45A SKCM 1 227071564 227071564 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:227071564C>T c.300C>T c.(298-300)atC>atT p.I100I SKCM 1 227076736 227076736 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr1:227076736C>T c.773C>T c.(772-774)gCc>gTc p.A258V SKCM 1 227077815 227077815 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:227077815C>T c.867C>T c.(865-867)ttC>ttT p.F289F SKCM 1 227081808 227081808 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr1:227081808C>T c.1173C>T c.(1171-1173)tgC>tgT p.C391C SKCM 1 227083261 227083261 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 g.chr1:227083261C>T c.1328C>T c.(1327-1329)tCc>tTc p.S443F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 227071519 227071519 single base substitution G A downstream_gene_variant BLCA-US 1 227071519 227071519 single base substitution G A exon_variant BLCA-US 1 227071519 227071519 single base substitution G A intron_variant BLCA-US 1 227071519 227071519 single base substitution G A synonymous_variant A118A 354G>A BLCA-US 1 227071519 227071519 single base substitution G A synonymous_variant A85A 255G>A BLCA-US 1 227071519 227071519 single base substitution G A upstream_gene_variant BRCA-EU 1 227053869 227053869 insertion of <=200bp - G upstream_gene_variant BRCA-EU 1 227053895 227053895 single base substitution G A upstream_gene_variant BRCA-EU 1 227055941 227055941 single base substitution C G upstream_gene_variant BRCA-EU 1 227057037 227057037 single base substitution A G upstream_gene_variant BRCA-EU 1 227057449 227057449 single base substitution G A upstream_gene_variant BRCA-EU 1 227057582 227057582 single base substitution G A upstream_gene_variant BRCA-EU 1 227058571 227058574 deletion of <=200bp GGCT - exon_variant BRCA-EU 1 227058571 227058574 deletion of <=200bp GGCT - intron_variant BRCA-EU 1 227058571 227058574 deletion of <=200bp GGCT - upstream_gene_variant BRCA-EU 1 227058579 227058579 single base substitution C G exon_variant BRCA-EU 1 227058579 227058579 single base substitution C G intron_variant BRCA-EU 1 227058579 227058579 single base substitution C G upstream_gene_variant BRCA-EU 1 227058720 227058720 single base substitution C T exon_variant BRCA-EU 1 227058720 227058720 single base substitution C T intron_variant BRCA-EU 1 227058720 227058720 single base substitution C T upstream_gene_variant BRCA-EU 1 227059953 227059953 single base substitution C A intron_variant BRCA-EU 1 227060354 227060354 single base substitution C G intron_variant BRCA-EU 1 227060486 227060486 single base substitution G A intron_variant BRCA-EU 1 227060753 227060753 single base substitution C T intron_variant BRCA-EU 1 227061735 227061735 single base substitution G T intron_variant BRCA-EU 1 227062146 227062146 single base substitution G T intron_variant BRCA-EU 1 227063552 227063552 single base substitution C T downstream_gene_variant BRCA-EU 1 227063552 227063552 single base substitution C T intron_variant BRCA-EU 1 227063552 227063552 single base substitution C T upstream_gene_variant BRCA-EU 1 227063623 227063623 single base substitution C G downstream_gene_variant BRCA-EU 1 227063623 227063623 single base substitution C G intron_variant BRCA-EU 1 227063623 227063623 single base substitution C G upstream_gene_variant BRCA-EU 1 227063885 227063885 single base substitution C T downstream_gene_variant BRCA-EU 1 227063885 227063885 single base substitution C T intron_variant BRCA-EU 1 227063885 227063885 single base substitution C T upstream_gene_variant BRCA-EU 1 227064416 227064416 single base substitution C G downstream_gene_variant BRCA-EU 1 227064416 227064416 single base substitution C G intron_variant BRCA-EU 1 227064416 227064416 single base substitution C G upstream_gene_variant BRCA-EU 1 227065655 227065655 single base substitution G C downstream_gene_variant BRCA-EU 1 227065655 227065655 single base substitution G C intron_variant BRCA-EU 1 227065655 227065655 single base substitution G C upstream_gene_variant BRCA-EU 1 227066692 227066692 single base substitution G C downstream_gene_variant BRCA-EU 1 227066692 227066692 single base substitution G C intron_variant BRCA-EU 1 227066692 227066692 single base substitution G C upstream_gene_variant BRCA-EU 1 227067598 227067598 single base substitution G A downstream_gene_variant BRCA-EU 1 227067598 227067598 single base substitution G A intron_variant BRCA-EU 1 227067598 227067598 single base substitution G A upstream_gene_variant BRCA-EU 1 227067624 227067624 single base substitution G C downstream_gene_variant BRCA-EU 1 227067624 227067624 single base substitution G C intron_variant BRCA-EU 1 227067624 227067624 single base substitution G C upstream_gene_variant BRCA-EU 1 227067868 227067868 single base substitution G A downstream_gene_variant BRCA-EU 1 227067868 227067868 single base substitution G A intron_variant BRCA-EU 1 227067868 227067868 single base substitution G A upstream_gene_variant BRCA-EU 1 227068245 227068245 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 227068245 227068245 single base substitution C T downstream_gene_variant BRCA-EU 1 227068245 227068245 single base substitution C T intron_variant BRCA-EU 1 227068245 227068245 single base substitution C T upstream_gene_variant BRCA-EU 1 227068592 227068592 single base substitution C G intron_variant BRCA-EU 1 227068592 227068592 single base substitution C G upstream_gene_variant BRCA-EU 1 227069529 227069529 single base substitution T A intron_variant BRCA-EU 1 227069529 227069529 single base substitution T A upstream_gene_variant BRCA-EU 1 227070475 227070475 single base substitution C G downstream_gene_variant BRCA-EU 1 227070475 227070475 single base substitution C G intron_variant BRCA-EU 1 227070475 227070475 single base substitution C G upstream_gene_variant BRCA-EU 1 227070518 227070518 single base substitution C G downstream_gene_variant BRCA-EU 1 227070518 227070518 single base substitution C G intron_variant BRCA-EU 1 227070518 227070518 single base substitution C G upstream_gene_variant BRCA-EU 1 227070580 227070580 single base substitution G C downstream_gene_variant BRCA-EU 1 227070580 227070580 single base substitution G C intron_variant BRCA-EU 1 227070580 227070580 single base substitution G C upstream_gene_variant BRCA-EU 1 227072147 227072147 single base substitution T C downstream_gene_variant BRCA-EU 1 227072147 227072147 single base substitution T C intron_variant BRCA-EU 1 227072147 227072147 single base substitution T C upstream_gene_variant BRCA-EU 1 227072293 227072293 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 227072293 227072293 insertion of <=200bp - T intron_variant BRCA-EU 1 227072293 227072293 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 227072734 227072734 single base substitution C A downstream_gene_variant BRCA-EU 1 227072734 227072734 single base substitution C A intron_variant BRCA-EU 1 227073256 227073256 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 1 227073256 227073256 single base substitution C T downstream_gene_variant BRCA-EU 1 227073256 227073256 single base substitution C T exon_variant BRCA-EU 1 227073256 227073256 single base substitution C T intron_variant BRCA-EU 1 227073256 227073256 single base substitution C T missense_variant T125I 374C>T BRCA-EU 1 227073256 227073256 single base substitution C T missense_variant T158I 473C>T BRCA-EU 1 227073941 227073941 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 227073941 227073941 deletion of <=200bp T - intron_variant BRCA-EU 1 227073941 227073941 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 227077642 227077642 single base substitution G C downstream_gene_variant BRCA-EU 1 227077642 227077642 single base substitution G C intron_variant BRCA-EU 1 227077642 227077642 single base substitution G C upstream_gene_variant BRCA-EU 1 227078818 227078818 single base substitution C A intron_variant BRCA-EU 1 227079071 227079071 single base substitution C G downstream_gene_variant BRCA-EU 1 227079071 227079071 single base substitution C G intron_variant BRCA-EU 1 227079071 227079071 single base substitution C G splice_region_variant BRCA-EU 1 227081503 227081503 single base substitution G C downstream_gene_variant BRCA-EU 1 227081503 227081503 single base substitution G C intron_variant BRCA-EU 1 227084040 227084040 single base substitution G T downstream_gene_variant BRCA-EU 1 227084553 227084553 single base substitution G A downstream_gene_variant BRCA-EU 1 227084950 227084950 single base substitution A C downstream_gene_variant BRCA-EU 1 227085654 227085654 single base substitution C T downstream_gene_variant BRCA-EU 1 227086538 227086538 single base substitution A C downstream_gene_variant BRCA-EU 1 227087129 227087129 single base substitution T G downstream_gene_variant BRCA-EU 1 227087906 227087906 single base substitution T A downstream_gene_variant BRCA-FR 1 227055111 227055111 single base substitution C A upstream_gene_variant BRCA-FR 1 227060354 227060354 single base substitution C G intron_variant BRCA-FR 1 227062146 227062146 single base substitution G T intron_variant BRCA-FR 1 227066692 227066692 single base substitution G C downstream_gene_variant BRCA-FR 1 227066692 227066692 single base substitution G C intron_variant BRCA-FR 1 227066692 227066692 single base substitution G C upstream_gene_variant BRCA-FR 1 227075715 227075715 single base substitution C G downstream_gene_variant BRCA-FR 1 227075715 227075715 single base substitution C G intron_variant BRCA-FR 1 227075715 227075715 single base substitution C G upstream_gene_variant BRCA-FR 1 227077051 227077051 single base substitution G A downstream_gene_variant BRCA-FR 1 227077051 227077051 single base substitution G A intron_variant BRCA-FR 1 227077051 227077051 single base substitution G A upstream_gene_variant BRCA-FR 1 227085654 227085654 single base substitution C T downstream_gene_variant BRCA-UK 1 227066206 227066206 single base substitution C T downstream_gene_variant BRCA-UK 1 227066206 227066206 single base substitution C T intron_variant BRCA-UK 1 227066206 227066206 single base substitution C T upstream_gene_variant BRCA-UK 1 227070475 227070475 single base substitution C G downstream_gene_variant BRCA-UK 1 227070475 227070475 single base substitution C G intron_variant BRCA-UK 1 227070475 227070475 single base substitution C G upstream_gene_variant BRCA-US 1 227069694 227069694 single base substitution G A downstream_gene_variant BRCA-US 1 227069694 227069694 single base substitution G A exon_variant BRCA-US 1 227069694 227069694 single base substitution G A intron_variant BRCA-US 1 227069694 227069694 single base substitution G A missense_variant R29H 86G>A BRCA-US 1 227069694 227069694 single base substitution G A missense_variant R62H 185G>A BRCA-US 1 227069694 227069694 single base substitution G A upstream_gene_variant BRCA-US 1 227069706 227069706 single base substitution A G downstream_gene_variant BRCA-US 1 227069706 227069706 single base substitution A G exon_variant BRCA-US 1 227069706 227069706 single base substitution A G intron_variant BRCA-US 1 227069706 227069706 single base substitution A G missense_variant E33G 98A>G BRCA-US 1 227069706 227069706 single base substitution A G missense_variant E66G 197A>G BRCA-US 1 227069706 227069706 single base substitution A G upstream_gene_variant BRCA-US 1 227076718 227076718 single base substitution C T downstream_gene_variant BRCA-US 1 227076718 227076718 single base substitution C T exon_variant BRCA-US 1 227076718 227076718 single base substitution C T missense_variant A108V 323C>T BRCA-US 1 227076718 227076718 single base substitution C T missense_variant A252V 755C>T BRCA-US 1 227076718 227076718 single base substitution C T missense_variant A285V 854C>T BRCA-US 1 227076718 227076718 single base substitution C T missense_variant A79V 236C>T BRCA-US 1 227076718 227076718 single base substitution C T upstream_gene_variant BRCA-US 1 227077759 227077759 single base substitution A G downstream_gene_variant BRCA-US 1 227077759 227077759 single base substitution A G exon_variant BRCA-US 1 227077759 227077759 single base substitution A G intron_variant BRCA-US 1 227077759 227077759 single base substitution A G missense_variant K127E 379A>G BRCA-US 1 227077759 227077759 single base substitution A G missense_variant K271E 811A>G BRCA-US 1 227077759 227077759 single base substitution A G missense_variant K304E 910A>G BRCA-US 1 227077759 227077759 single base substitution A G missense_variant K98E 292A>G BRCA-US 1 227077759 227077759 single base substitution A G upstream_gene_variant BTCA-JP 1 227073220 227073220 single base substitution C T downstream_gene_variant BTCA-JP 1 227073220 227073220 single base substitution C T intron_variant BTCA-JP 1 227073296 227073296 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 1 227073296 227073296 single base substitution C T downstream_gene_variant BTCA-JP 1 227073296 227073296 single base substitution C T exon_variant BTCA-JP 1 227073296 227073296 single base substitution C T intron_variant BTCA-JP 1 227073296 227073296 single base substitution C T synonymous_variant S138S 414C>T BTCA-JP 1 227073296 227073296 single base substitution C T synonymous_variant S171S 513C>T BTCA-JP 1 227073296 227073296 single base substitution C T upstream_gene_variant BTCA-JP 1 227076719 227076719 single base substitution G A downstream_gene_variant BTCA-JP 1 227076719 227076719 single base substitution G A exon_variant BTCA-JP 1 227076719 227076719 single base substitution G A synonymous_variant A108A 324G>A BTCA-JP 1 227076719 227076719 single base substitution G A synonymous_variant A252A 756G>A BTCA-JP 1 227076719 227076719 single base substitution G A synonymous_variant A285A 855G>A BTCA-JP 1 227076719 227076719 single base substitution G A synonymous_variant A79A 237G>A BTCA-JP 1 227076719 227076719 single base substitution G A upstream_gene_variant CESC-US 1 227079026 227079026 single base substitution C T exon_variant CESC-US 1 227079026 227079026 single base substitution C T stop_gained Q139* 415C>T CESC-US 1 227079026 227079026 single base substitution C T stop_gained Q168* 502C>T CESC-US 1 227079026 227079026 single base substitution C T stop_gained Q279* 835C>T CESC-US 1 227079026 227079026 single base substitution C T stop_gained Q312* 934C>T CESC-US 1 227079026 227079026 single base substitution C T stop_gained Q345* 1033C>T CLLE-ES 1 227077315 227077315 single base substitution C T downstream_gene_variant CLLE-ES 1 227077315 227077315 single base substitution C T intron_variant CLLE-ES 1 227077315 227077315 single base substitution C T upstream_gene_variant CLLE-ES 1 227082138 227082138 single base substitution C T downstream_gene_variant CLLE-ES 1 227082138 227082138 single base substitution C T intron_variant COAD-US 1 227069688 227069688 single base substitution C T downstream_gene_variant COAD-US 1 227069688 227069688 single base substitution C T exon_variant COAD-US 1 227069688 227069688 single base substitution C T intron_variant COAD-US 1 227069688 227069688 single base substitution C T missense_variant T27M 80C>T COAD-US 1 227069688 227069688 single base substitution C T missense_variant T60M 179C>T COAD-US 1 227069688 227069688 single base substitution C T upstream_gene_variant COAD-US 1 227071480 227071480 single base substitution G A downstream_gene_variant COAD-US 1 227071480 227071480 single base substitution G A exon_variant COAD-US 1 227071480 227071480 single base substitution G A intron_variant COAD-US 1 227071480 227071480 single base substitution G A synonymous_variant P105P 315G>A COAD-US 1 227071480 227071480 single base substitution G A synonymous_variant P72P 216G>A COAD-US 1 227071480 227071480 single base substitution G A upstream_gene_variant COAD-US 1 227076603 227076603 single base substitution G A downstream_gene_variant COAD-US 1 227076603 227076603 single base substitution G A exon_variant COAD-US 1 227076603 227076603 single base substitution G A missense_variant V214M 640G>A COAD-US 1 227076603 227076603 single base substitution G A missense_variant V247M 739G>A COAD-US 1 227076603 227076603 single base substitution G A missense_variant V41M 121G>A COAD-US 1 227076603 227076603 single base substitution G A missense_variant V70M 208G>A COAD-US 1 227076603 227076603 single base substitution G A upstream_gene_variant COAD-US 1 227076673 227076673 single base substitution C T downstream_gene_variant COAD-US 1 227076673 227076673 single base substitution C T exon_variant COAD-US 1 227076673 227076673 single base substitution C T missense_variant A237V 710C>T COAD-US 1 227076673 227076673 single base substitution C T missense_variant A270V 809C>T COAD-US 1 227076673 227076673 single base substitution C T missense_variant A64V 191C>T COAD-US 1 227076673 227076673 single base substitution C T missense_variant A93V 278C>T COAD-US 1 227076673 227076673 single base substitution C T upstream_gene_variant COAD-US 1 227076694 227076694 single base substitution T A downstream_gene_variant COAD-US 1 227076694 227076694 single base substitution T A exon_variant COAD-US 1 227076694 227076694 single base substitution T A missense_variant I100N 299T>A COAD-US 1 227076694 227076694 single base substitution T A missense_variant I244N 731T>A COAD-US 1 227076694 227076694 single base substitution T A missense_variant I277N 830T>A COAD-US 1 227076694 227076694 single base substitution T A missense_variant I71N 212T>A COAD-US 1 227076694 227076694 single base substitution T A upstream_gene_variant COAD-US 1 227076734 227076734 single base substitution C T downstream_gene_variant COAD-US 1 227076734 227076734 single base substitution C T exon_variant COAD-US 1 227076734 227076734 single base substitution C T synonymous_variant G113G 339C>T COAD-US 1 227076734 227076734 single base substitution C T synonymous_variant G257G 771C>T COAD-US 1 227076734 227076734 single base substitution C T synonymous_variant G290G 870C>T COAD-US 1 227076734 227076734 single base substitution C T synonymous_variant G84G 252C>T COAD-US 1 227076734 227076734 single base substitution C T upstream_gene_variant COAD-US 1 227083196 227083196 single base substitution G A 3_prime_UTR_variant COAD-US 1 227083196 227083196 single base substitution G A downstream_gene_variant COAD-US 1 227083196 227083196 single base substitution G A exon_variant COAD-US 1 227083196 227083196 single base substitution G A synonymous_variant T277T 831G>A COAD-US 1 227083196 227083196 single base substitution G A synonymous_variant T388T 1164G>A COAD-US 1 227083196 227083196 single base substitution G A synonymous_variant T420T 1260G>A COAD-US 1 227083196 227083196 single base substitution G A synonymous_variant T421T 1263G>A COAD-US 1 227083196 227083196 single base substitution G A synonymous_variant T454T 1362G>A COCA-CN 1 227071364 227071364 single base substitution G A downstream_gene_variant COCA-CN 1 227071364 227071364 single base substitution G A intron_variant COCA-CN 1 227071364 227071364 single base substitution G A upstream_gene_variant COCA-CN 1 227071456 227071456 single base substitution C T downstream_gene_variant COCA-CN 1 227071456 227071456 single base substitution C T exon_variant COCA-CN 1 227071456 227071456 single base substitution C T intron_variant COCA-CN 1 227071456 227071456 single base substitution C T synonymous_variant V64V 192C>T COCA-CN 1 227071456 227071456 single base substitution C T synonymous_variant V97V 291C>T COCA-CN 1 227071456 227071456 single base substitution C T upstream_gene_variant COCA-CN 1 227071676 227071676 single base substitution T G downstream_gene_variant COCA-CN 1 227071676 227071676 single base substitution T G intron_variant COCA-CN 1 227071676 227071676 single base substitution T G upstream_gene_variant COCA-CN 1 227077713 227077713 single base substitution C T downstream_gene_variant COCA-CN 1 227077713 227077713 single base substitution C T intron_variant COCA-CN 1 227077713 227077713 single base substitution C T upstream_gene_variant COCA-CN 1 227081683 227081683 single base substitution C T downstream_gene_variant COCA-CN 1 227081683 227081683 single base substitution C T intron_variant COCA-CN 1 227083108 227083108 single base substitution C T downstream_gene_variant COCA-CN 1 227083108 227083108 single base substitution C T intron_variant COCA-CN 1 227085440 227085440 single base substitution A G downstream_gene_variant ESAD-UK 1 227053868 227053868 single base substitution T G upstream_gene_variant ESAD-UK 1 227054129 227054129 single base substitution C T upstream_gene_variant ESAD-UK 1 227055520 227055520 single base substitution G C upstream_gene_variant ESAD-UK 1 227055686 227055686 single base substitution A G upstream_gene_variant ESAD-UK 1 227056203 227056203 single base substitution G T upstream_gene_variant ESAD-UK 1 227058669 227058669 single base substitution G A exon_variant ESAD-UK 1 227058669 227058669 single base substitution G A intron_variant ESAD-UK 1 227058669 227058669 single base substitution G A upstream_gene_variant ESAD-UK 1 227059909 227059909 single base substitution G A intron_variant ESAD-UK 1 227060374 227060374 single base substitution G A intron_variant ESAD-UK 1 227062086 227062086 single base substitution A G intron_variant ESAD-UK 1 227065501 227065501 single base substitution G A downstream_gene_variant ESAD-UK 1 227065501 227065501 single base substitution G A intron_variant ESAD-UK 1 227065501 227065501 single base substitution G A upstream_gene_variant ESAD-UK 1 227068322 227068322 single base substitution A C 5_prime_UTR_variant ESAD-UK 1 227068322 227068322 single base substitution A C intron_variant ESAD-UK 1 227068322 227068322 single base substitution A C upstream_gene_variant ESAD-UK 1 227069275 227069275 single base substitution A T intron_variant ESAD-UK 1 227069275 227069275 single base substitution A T upstream_gene_variant ESAD-UK 1 227072623 227072623 single base substitution T A downstream_gene_variant ESAD-UK 1 227072623 227072623 single base substitution T A intron_variant ESAD-UK 1 227073297 227073297 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 1 227073297 227073297 single base substitution G T downstream_gene_variant ESAD-UK 1 227073297 227073297 single base substitution G T exon_variant ESAD-UK 1 227073297 227073297 single base substitution G T intron_variant ESAD-UK 1 227073297 227073297 single base substitution G T missense_variant V139L 415G>T ESAD-UK 1 227073297 227073297 single base substitution G T missense_variant V172L 514G>T ESAD-UK 1 227073297 227073297 single base substitution G T upstream_gene_variant ESAD-UK 1 227073775 227073775 single base substitution G A downstream_gene_variant ESAD-UK 1 227073775 227073775 single base substitution G A intron_variant ESAD-UK 1 227073775 227073775 single base substitution G A upstream_gene_variant ESAD-UK 1 227075258 227075258 single base substitution G A downstream_gene_variant ESAD-UK 1 227075258 227075258 single base substitution G A intron_variant ESAD-UK 1 227075258 227075258 single base substitution G A upstream_gene_variant ESAD-UK 1 227075788 227075788 single base substitution C G downstream_gene_variant ESAD-UK 1 227075788 227075788 single base substitution C G splice_region_variant ESAD-UK 1 227075788 227075788 single base substitution C G upstream_gene_variant ESAD-UK 1 227076465 227076465 single base substitution G A downstream_gene_variant ESAD-UK 1 227076465 227076465 single base substitution G A intron_variant ESAD-UK 1 227076465 227076465 single base substitution G A upstream_gene_variant ESAD-UK 1 227077412 227077412 single base substitution G T downstream_gene_variant ESAD-UK 1 227077412 227077412 single base substitution G T intron_variant ESAD-UK 1 227077412 227077412 single base substitution G T upstream_gene_variant ESAD-UK 1 227080967 227080967 single base substitution C A downstream_gene_variant ESAD-UK 1 227080967 227080967 single base substitution C A intron_variant ESAD-UK 1 227081712 227081712 single base substitution C T downstream_gene_variant ESAD-UK 1 227081712 227081712 single base substitution C T exon_variant ESAD-UK 1 227081712 227081712 single base substitution C T synonymous_variant G215G 645C>T ESAD-UK 1 227081712 227081712 single base substitution C T synonymous_variant G326G 978C>T ESAD-UK 1 227081712 227081712 single base substitution C T synonymous_variant G358G 1074C>T ESAD-UK 1 227081712 227081712 single base substitution C T synonymous_variant G359G 1077C>T ESAD-UK 1 227081712 227081712 single base substitution C T synonymous_variant G392G 1176C>T ESAD-UK 1 227082121 227082121 single base substitution T G downstream_gene_variant ESAD-UK 1 227082121 227082121 single base substitution T G intron_variant ESAD-UK 1 227086721 227086721 single base substitution C A downstream_gene_variant ESAD-UK 1 227087518 227087518 single base substitution C T downstream_gene_variant ESAD-UK 1 227087725 227087725 single base substitution C T downstream_gene_variant ESAD-UK 1 227087983 227087983 single base substitution G A downstream_gene_variant ESAD-UK 1 227088204 227088204 single base substitution C T downstream_gene_variant ESCA-CN 1 227077797 227077797 single base substitution G C downstream_gene_variant ESCA-CN 1 227077797 227077797 single base substitution G C exon_variant ESCA-CN 1 227077797 227077797 single base substitution G C intron_variant ESCA-CN 1 227077797 227077797 single base substitution G C missense_variant E110D 330G>C ESCA-CN 1 227077797 227077797 single base substitution G C missense_variant E139D 417G>C ESCA-CN 1 227077797 227077797 single base substitution G C missense_variant E283D 849G>C ESCA-CN 1 227077797 227077797 single base substitution G C missense_variant E316D 948G>C ESCA-CN 1 227077797 227077797 single base substitution G C upstream_gene_variant KIRC-US 1 227073330 227073330 single base substitution G T downstream_gene_variant KIRC-US 1 227073330 227073330 single base substitution G T exon_variant KIRC-US 1 227073330 227073330 single base substitution G T intron_variant KIRC-US 1 227073330 227073330 single base substitution G T missense_variant V150L 448G>T KIRC-US 1 227073330 227073330 single base substitution G T missense_variant V183L 547G>T KIRC-US 1 227073330 227073330 single base substitution G T missense_variant V6L 16G>T KIRC-US 1 227073330 227073330 single base substitution G T upstream_gene_variant KIRC-US 1 227076606 227076606 single base substitution G A downstream_gene_variant KIRC-US 1 227076606 227076606 single base substitution G A exon_variant KIRC-US 1 227076606 227076606 single base substitution G A missense_variant G215S 643G>A KIRC-US 1 227076606 227076606 single base substitution G A missense_variant G248S 742G>A KIRC-US 1 227076606 227076606 single base substitution G A missense_variant G42S 124G>A KIRC-US 1 227076606 227076606 single base substitution G A missense_variant G71S 211G>A KIRC-US 1 227076606 227076606 single base substitution G A upstream_gene_variant KIRC-US 1 227076706 227076706 single base substitution C A downstream_gene_variant KIRC-US 1 227076706 227076706 single base substitution C A exon_variant KIRC-US 1 227076706 227076706 single base substitution C A missense_variant P104Q 311C>A KIRC-US 1 227076706 227076706 single base substitution C A missense_variant P248Q 743C>A KIRC-US 1 227076706 227076706 single base substitution C A missense_variant P281Q 842C>A KIRC-US 1 227076706 227076706 single base substitution C A missense_variant P75Q 224C>A KIRC-US 1 227076706 227076706 single base substitution C A upstream_gene_variant LAML-KR 1 227071525 227071525 single base substitution C T downstream_gene_variant LAML-KR 1 227071525 227071525 single base substitution C T exon_variant LAML-KR 1 227071525 227071525 single base substitution C T intron_variant LAML-KR 1 227071525 227071525 single base substitution C T synonymous_variant H120H 360C>T LAML-KR 1 227071525 227071525 single base substitution C T synonymous_variant H87H 261C>T LAML-KR 1 227071525 227071525 single base substitution C T upstream_gene_variant LAML-KR 1 227085155 227085155 single base substitution G A downstream_gene_variant LAML-KR 1 227085646 227085646 single base substitution C T downstream_gene_variant LICA-CN 1 227076533 227076533 single base substitution A G downstream_gene_variant LICA-CN 1 227076533 227076533 single base substitution A G exon_variant LICA-CN 1 227076533 227076533 single base substitution A G synonymous_variant E17E 51A>G LICA-CN 1 227076533 227076533 single base substitution A G synonymous_variant E190E 570A>G LICA-CN 1 227076533 227076533 single base substitution A G synonymous_variant E223E 669A>G LICA-CN 1 227076533 227076533 single base substitution A G synonymous_variant E46E 138A>G LICA-CN 1 227076533 227076533 single base substitution A G upstream_gene_variant LICA-CN 1 227083154 227083154 single base substitution T A 3_prime_UTR_variant LICA-CN 1 227083154 227083154 single base substitution T A downstream_gene_variant LICA-CN 1 227083154 227083154 single base substitution T A exon_variant LICA-CN 1 227083154 227083154 single base substitution T A synonymous_variant A263A 789T>A LICA-CN 1 227083154 227083154 single base substitution T A synonymous_variant A374A 1122T>A LICA-CN 1 227083154 227083154 single base substitution T A synonymous_variant A406A 1218T>A LICA-CN 1 227083154 227083154 single base substitution T A synonymous_variant A407A 1221T>A LICA-CN 1 227083154 227083154 single base substitution T A synonymous_variant A440A 1320T>A LICA-FR 1 227053876 227053876 single base substitution G T upstream_gene_variant LICA-FR 1 227067257 227067257 single base substitution A T downstream_gene_variant LICA-FR 1 227067257 227067257 single base substitution A T intron_variant LICA-FR 1 227067257 227067257 single base substitution A T upstream_gene_variant LICA-FR 1 227083170 227083170 single base substitution C A 3_prime_UTR_variant LICA-FR 1 227083170 227083170 single base substitution C A downstream_gene_variant LICA-FR 1 227083170 227083170 single base substitution C A exon_variant LICA-FR 1 227083170 227083170 single base substitution C A missense_variant L269M 805C>A LICA-FR 1 227083170 227083170 single base substitution C A missense_variant L380M 1138C>A LICA-FR 1 227083170 227083170 single base substitution C A missense_variant L412M 1234C>A LICA-FR 1 227083170 227083170 single base substitution C A missense_variant L413M 1237C>A LICA-FR 1 227083170 227083170 single base substitution C A missense_variant L446M 1336C>A LINC-JP 1 227063445 227063445 single base substitution C A downstream_gene_variant LINC-JP 1 227063445 227063445 single base substitution C A intron_variant LINC-JP 1 227063445 227063445 single base substitution C A upstream_gene_variant LINC-JP 1 227069471 227069471 single base substitution A G intron_variant LINC-JP 1 227069471 227069471 single base substitution A G upstream_gene_variant LINC-JP 1 227069554 227069554 single base substitution A G intron_variant LINC-JP 1 227069554 227069554 single base substitution A G upstream_gene_variant LINC-JP 1 227069580 227069580 single base substitution T G intron_variant LINC-JP 1 227069580 227069580 single base substitution T G upstream_gene_variant LINC-JP 1 227071670 227071670 single base substitution A G downstream_gene_variant LINC-JP 1 227071670 227071670 single base substitution A G intron_variant LINC-JP 1 227071670 227071670 single base substitution A G upstream_gene_variant LINC-JP 1 227079013 227079013 single base substitution G T exon_variant LINC-JP 1 227079013 227079013 single base substitution G T synonymous_variant L134L 402G>T LINC-JP 1 227079013 227079013 single base substitution G T synonymous_variant L163L 489G>T LINC-JP 1 227079013 227079013 single base substitution G T synonymous_variant L274L 822G>T LINC-JP 1 227079013 227079013 single base substitution G T synonymous_variant L307L 921G>T LINC-JP 1 227079013 227079013 single base substitution G T synonymous_variant L340L 1020G>T LINC-JP 1 227081709 227081709 single base substitution G A downstream_gene_variant LINC-JP 1 227081709 227081709 single base substitution G A splice_region_variant LINC-JP 1 227083164 227083164 insertion of <=200bp - TA 3_prime_UTR_variant LINC-JP 1 227083164 227083164 insertion of <=200bp - TA downstream_gene_variant LINC-JP 1 227083164 227083164 insertion of <=200bp - TA exon_variant LINC-JP 1 227083164 227083164 insertion of <=200bp - TA frameshift_variant K267*? LINC-JP 1 227083164 227083164 insertion of <=200bp - TA frameshift_variant K378*? LINC-JP 1 227083164 227083164 insertion of <=200bp - TA frameshift_variant K410*? LINC-JP 1 227083164 227083164 insertion of <=200bp - TA frameshift_variant K411*? LINC-JP 1 227083164 227083164 insertion of <=200bp - TA frameshift_variant K444*? LIRI-JP 1 227060211 227060211 single base substitution A G intron_variant LIRI-JP 1 227064235 227064235 single base substitution C T downstream_gene_variant LIRI-JP 1 227064235 227064235 single base substitution C T intron_variant LIRI-JP 1 227064235 227064235 single base substitution C T upstream_gene_variant LIRI-JP 1 227067537 227067537 single base substitution T A downstream_gene_variant LIRI-JP 1 227067537 227067537 single base substitution T A intron_variant LIRI-JP 1 227067537 227067537 single base substitution T A upstream_gene_variant LIRI-JP 1 227068100 227068100 single base substitution A G downstream_gene_variant LIRI-JP 1 227068100 227068100 single base substitution A G intron_variant LIRI-JP 1 227068100 227068100 single base substitution A G upstream_gene_variant LIRI-JP 1 227069866 227069866 single base substitution G T downstream_gene_variant LIRI-JP 1 227069866 227069866 single base substitution G T intron_variant LIRI-JP 1 227069866 227069866 single base substitution G T upstream_gene_variant LIRI-JP 1 227070343 227070343 single base substitution A G downstream_gene_variant LIRI-JP 1 227070343 227070343 single base substitution A G intron_variant LIRI-JP 1 227070343 227070343 single base substitution A G upstream_gene_variant LIRI-JP 1 227085856 227085856 single base substitution A G downstream_gene_variant LIRI-JP 1 227087986 227087986 single base substitution G T downstream_gene_variant LUSC-KR 1 227054086 227054086 single base substitution A T upstream_gene_variant LUSC-KR 1 227054100 227054100 single base substitution G A upstream_gene_variant LUSC-KR 1 227054987 227054987 single base substitution C T upstream_gene_variant LUSC-KR 1 227060923 227060923 single base substitution A G intron_variant LUSC-KR 1 227063032 227063032 single base substitution C T intron_variant LUSC-KR 1 227068322 227068322 single base substitution A C 5_prime_UTR_variant LUSC-KR 1 227068322 227068322 single base substitution A C intron_variant LUSC-KR 1 227068322 227068322 single base substitution A C upstream_gene_variant LUSC-KR 1 227070252 227070252 single base substitution C G downstream_gene_variant LUSC-KR 1 227070252 227070252 single base substitution C G intron_variant LUSC-KR 1 227070252 227070252 single base substitution C G upstream_gene_variant LUSC-KR 1 227070508 227070508 single base substitution T G downstream_gene_variant LUSC-KR 1 227070508 227070508 single base substitution T G intron_variant LUSC-KR 1 227070508 227070508 single base substitution T G upstream_gene_variant LUSC-KR 1 227073279 227073279 single base substitution C G 5_prime_UTR_variant LUSC-KR 1 227073279 227073279 single base substitution C G downstream_gene_variant LUSC-KR 1 227073279 227073279 single base substitution C G exon_variant LUSC-KR 1 227073279 227073279 single base substitution C G intron_variant LUSC-KR 1 227073279 227073279 single base substitution C G missense_variant Q133E 397C>G LUSC-KR 1 227073279 227073279 single base substitution C G missense_variant Q166E 496C>G LUSC-KR 1 227073279 227073279 single base substitution C G upstream_gene_variant LUSC-KR 1 227074312 227074312 single base substitution C T downstream_gene_variant LUSC-KR 1 227074312 227074312 single base substitution C T intron_variant LUSC-KR 1 227074312 227074312 single base substitution C T upstream_gene_variant LUSC-KR 1 227078631 227078631 single base substitution G T exon_variant LUSC-KR 1 227078631 227078631 single base substitution G T intron_variant LUSC-KR 1 227079057 227079057 single base substitution A G downstream_gene_variant LUSC-KR 1 227079057 227079057 single base substitution A G exon_variant LUSC-KR 1 227079057 227079057 single base substitution A G missense_variant E178G 533A>G LUSC-KR 1 227079057 227079057 single base substitution A G missense_variant E289G 866A>G LUSC-KR 1 227079057 227079057 single base substitution A G missense_variant E322G 965A>G LUSC-KR 1 227079057 227079057 single base substitution A G missense_variant E355G 1064A>G LUSC-KR 1 227081850 227081850 single base substitution G A downstream_gene_variant LUSC-KR 1 227081850 227081850 single base substitution G A intron_variant LUSC-KR 1 227083407 227083407 single base substitution C G 3_prime_UTR_variant LUSC-KR 1 227083407 227083407 single base substitution C G downstream_gene_variant LUSC-KR 1 227083407 227083407 single base substitution C G intron_variant LUSC-KR 1 227085112 227085112 single base substitution G C downstream_gene_variant LUSC-KR 1 227087047 227087047 single base substitution C A downstream_gene_variant LUSC-US 1 227071548 227071548 single base substitution T C downstream_gene_variant LUSC-US 1 227071548 227071548 single base substitution T C exon_variant LUSC-US 1 227071548 227071548 single base substitution T C intron_variant LUSC-US 1 227071548 227071548 single base substitution T C missense_variant V128A 383T>C LUSC-US 1 227071548 227071548 single base substitution T C missense_variant V95A 284T>C LUSC-US 1 227071548 227071548 single base substitution T C upstream_gene_variant LUSC-US 1 227079483 227079483 single base substitution C T downstream_gene_variant LUSC-US 1 227079483 227079483 single base substitution C T exon_variant LUSC-US 1 227079483 227079483 single base substitution C T missense_variant P193L 578C>T LUSC-US 1 227079483 227079483 single base substitution C T missense_variant P304L 911C>T LUSC-US 1 227079483 227079483 single base substitution C T missense_variant P336L 1007C>T LUSC-US 1 227079483 227079483 single base substitution C T missense_variant P337L 1010C>T LUSC-US 1 227079483 227079483 single base substitution C T missense_variant P370L 1109C>T LUSC-US 1 227079536 227079536 single base substitution G A downstream_gene_variant LUSC-US 1 227079536 227079536 single base substitution G A exon_variant LUSC-US 1 227079536 227079536 single base substitution G A missense_variant E211K 631G>A LUSC-US 1 227079536 227079536 single base substitution G A missense_variant E322K 964G>A LUSC-US 1 227079536 227079536 single base substitution G A missense_variant E354K 1060G>A LUSC-US 1 227079536 227079536 single base substitution G A missense_variant E355K 1063G>A LUSC-US 1 227079536 227079536 single base substitution G A missense_variant E388K 1162G>A MALY-DE 1 227053340 227053340 single base substitution A T upstream_gene_variant MALY-DE 1 227054309 227054309 single base substitution T G upstream_gene_variant MALY-DE 1 227057783 227057783 single base substitution C T upstream_gene_variant MALY-DE 1 227064235 227064235 single base substitution C T downstream_gene_variant MALY-DE 1 227064235 227064235 single base substitution C T intron_variant MALY-DE 1 227064235 227064235 single base substitution C T upstream_gene_variant MALY-DE 1 227064402 227064402 single base substitution A T downstream_gene_variant MALY-DE 1 227064402 227064402 single base substitution A T intron_variant MALY-DE 1 227064402 227064402 single base substitution A T upstream_gene_variant MALY-DE 1 227068243 227068246 deletion of <=200bp GACA - 5_prime_UTR_variant MALY-DE 1 227068243 227068246 deletion of <=200bp GACA - downstream_gene_variant MALY-DE 1 227068243 227068246 deletion of <=200bp GACA - intron_variant MALY-DE 1 227068243 227068246 deletion of <=200bp GACA - upstream_gene_variant MALY-DE 1 227068322 227068322 single base substitution A C 5_prime_UTR_variant MALY-DE 1 227068322 227068322 single base substitution A C intron_variant MALY-DE 1 227068322 227068322 single base substitution A C upstream_gene_variant MALY-DE 1 227074826 227074826 single base substitution G A downstream_gene_variant MALY-DE 1 227074826 227074826 single base substitution G A intron_variant MALY-DE 1 227074826 227074826 single base substitution G A upstream_gene_variant MALY-DE 1 227077087 227077087 single base substitution C G downstream_gene_variant MALY-DE 1 227077087 227077087 single base substitution C G intron_variant MALY-DE 1 227077087 227077087 single base substitution C G upstream_gene_variant MALY-DE 1 227082213 227082213 single base substitution T C downstream_gene_variant MALY-DE 1 227082213 227082213 single base substitution T C intron_variant MALY-DE 1 227085336 227085336 single base substitution C T downstream_gene_variant MELA-AU 1 227053072 227053072 single base substitution G A upstream_gene_variant MELA-AU 1 227053833 227053833 single base substitution G A upstream_gene_variant MELA-AU 1 227053958 227053958 single base substitution G A upstream_gene_variant MELA-AU 1 227054331 227054332 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 227054982 227054982 single base substitution G A upstream_gene_variant MELA-AU 1 227055074 227055074 single base substitution G A upstream_gene_variant MELA-AU 1 227055385 227055385 single base substitution G A upstream_gene_variant MELA-AU 1 227056307 227056307 single base substitution G A upstream_gene_variant MELA-AU 1 227056764 227056764 single base substitution G A upstream_gene_variant MELA-AU 1 227057049 227057049 single base substitution C T upstream_gene_variant MELA-AU 1 227057456 227057456 single base substitution G A upstream_gene_variant MELA-AU 1 227057993 227057993 single base substitution A G 5_prime_UTR_variant MELA-AU 1 227057993 227057993 single base substitution A G upstream_gene_variant MELA-AU 1 227057999 227057999 single base substitution G A 5_prime_UTR_variant MELA-AU 1 227057999 227057999 single base substitution G A upstream_gene_variant MELA-AU 1 227058466 227058466 single base substitution C T intron_variant MELA-AU 1 227058466 227058466 single base substitution C T upstream_gene_variant MELA-AU 1 227059169 227059169 single base substitution C T intron_variant MELA-AU 1 227059255 227059256 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 227059443 227059443 single base substitution C T intron_variant MELA-AU 1 227059607 227059607 single base substitution G A intron_variant MELA-AU 1 227059920 227059920 single base substitution G A intron_variant MELA-AU 1 227060661 227060661 single base substitution C T intron_variant MELA-AU 1 227062625 227062626 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 1 227062638 227062638 single base substitution C T intron_variant MELA-AU 1 227063054 227063054 single base substitution C T intron_variant MELA-AU 1 227063604 227063604 single base substitution C T downstream_gene_variant MELA-AU 1 227063604 227063604 single base substitution C T intron_variant MELA-AU 1 227063604 227063604 single base substitution C T upstream_gene_variant MELA-AU 1 227063925 227063925 single base substitution C T downstream_gene_variant MELA-AU 1 227063925 227063925 single base substitution C T intron_variant MELA-AU 1 227063925 227063925 single base substitution C T upstream_gene_variant MELA-AU 1 227063990 227063990 single base substitution G A downstream_gene_variant MELA-AU 1 227063990 227063990 single base substitution G A intron_variant MELA-AU 1 227063990 227063990 single base substitution G A upstream_gene_variant MELA-AU 1 227064024 227064024 single base substitution C T downstream_gene_variant MELA-AU 1 227064024 227064024 single base substitution C T intron_variant MELA-AU 1 227064024 227064024 single base substitution C T upstream_gene_variant MELA-AU 1 227064121 227064121 single base substitution C T downstream_gene_variant MELA-AU 1 227064121 227064121 single base substitution C T intron_variant MELA-AU 1 227064121 227064121 single base substitution C T upstream_gene_variant MELA-AU 1 227064430 227064430 single base substitution T A downstream_gene_variant MELA-AU 1 227064430 227064430 single base substitution T A intron_variant MELA-AU 1 227064430 227064430 single base substitution T A upstream_gene_variant MELA-AU 1 227064693 227064693 single base substitution C T downstream_gene_variant MELA-AU 1 227064693 227064693 single base substitution C T intron_variant MELA-AU 1 227064693 227064693 single base substitution C T upstream_gene_variant MELA-AU 1 227064833 227064833 single base substitution G A downstream_gene_variant MELA-AU 1 227064833 227064833 single base substitution G A intron_variant MELA-AU 1 227064833 227064833 single base substitution G A upstream_gene_variant MELA-AU 1 227065110 227065110 single base substitution G A downstream_gene_variant MELA-AU 1 227065110 227065110 single base substitution G A intron_variant MELA-AU 1 227065110 227065110 single base substitution G A upstream_gene_variant MELA-AU 1 227065871 227065871 single base substitution C T downstream_gene_variant MELA-AU 1 227065871 227065871 single base substitution C T intron_variant MELA-AU 1 227065871 227065871 single base substitution C T upstream_gene_variant MELA-AU 1 227066311 227066312 multiple base substitution (>=2bp and <=200bp) TC CT downstream_gene_variant MELA-AU 1 227066311 227066312 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 1 227066311 227066312 multiple base substitution (>=2bp and <=200bp) TC CT upstream_gene_variant MELA-AU 1 227067225 227067225 single base substitution C T downstream_gene_variant MELA-AU 1 227067225 227067225 single base substitution C T intron_variant MELA-AU 1 227067225 227067225 single base substitution C T upstream_gene_variant MELA-AU 1 227067659 227067659 single base substitution C T downstream_gene_variant MELA-AU 1 227067659 227067659 single base substitution C T intron_variant MELA-AU 1 227067659 227067659 single base substitution C T upstream_gene_variant MELA-AU 1 227067786 227067786 single base substitution C T downstream_gene_variant MELA-AU 1 227067786 227067786 single base substitution C T intron_variant MELA-AU 1 227067786 227067786 single base substitution C T upstream_gene_variant MELA-AU 1 227068174 227068174 single base substitution T G 5_prime_UTR_variant MELA-AU 1 227068174 227068174 single base substitution T G downstream_gene_variant MELA-AU 1 227068174 227068174 single base substitution T G intron_variant MELA-AU 1 227068174 227068174 single base substitution T G upstream_gene_variant MELA-AU 1 227068322 227068322 single base substitution A C 5_prime_UTR_variant MELA-AU 1 227068322 227068322 single base substitution A C intron_variant MELA-AU 1 227068322 227068322 single base substitution A C upstream_gene_variant MELA-AU 1 227069038 227069038 single base substitution C T intron_variant MELA-AU 1 227069038 227069038 single base substitution C T upstream_gene_variant MELA-AU 1 227069049 227069049 single base substitution C T intron_variant MELA-AU 1 227069049 227069049 single base substitution C T upstream_gene_variant MELA-AU 1 227069585 227069585 single base substitution C T intron_variant MELA-AU 1 227069585 227069585 single base substitution C T splice_region_variant MELA-AU 1 227069585 227069585 single base substitution C T upstream_gene_variant MELA-AU 1 227069665 227069665 single base substitution C T exon_variant MELA-AU 1 227069665 227069665 single base substitution C T intron_variant MELA-AU 1 227069665 227069665 single base substitution C T synonymous_variant S19S 57C>T MELA-AU 1 227069665 227069665 single base substitution C T synonymous_variant S52S 156C>T MELA-AU 1 227069665 227069665 single base substitution C T upstream_gene_variant MELA-AU 1 227070329 227070329 single base substitution C T downstream_gene_variant MELA-AU 1 227070329 227070329 single base substitution C T intron_variant MELA-AU 1 227070329 227070329 single base substitution C T upstream_gene_variant MELA-AU 1 227070597 227070597 single base substitution A G downstream_gene_variant MELA-AU 1 227070597 227070597 single base substitution A G intron_variant MELA-AU 1 227070597 227070597 single base substitution A G upstream_gene_variant MELA-AU 1 227070950 227070950 single base substitution C T downstream_gene_variant MELA-AU 1 227070950 227070950 single base substitution C T intron_variant MELA-AU 1 227070950 227070950 single base substitution C T upstream_gene_variant MELA-AU 1 227072364 227072364 single base substitution C T 5_prime_UTR_variant MELA-AU 1 227072364 227072364 single base substitution C T downstream_gene_variant MELA-AU 1 227072364 227072364 single base substitution C T intron_variant MELA-AU 1 227072441 227072441 single base substitution C T downstream_gene_variant MELA-AU 1 227072441 227072441 single base substitution C T intron_variant MELA-AU 1 227073165 227073165 single base substitution C T downstream_gene_variant MELA-AU 1 227073165 227073165 single base substitution C T intron_variant MELA-AU 1 227073232 227073232 single base substitution C A downstream_gene_variant MELA-AU 1 227073232 227073232 single base substitution C A intron_variant MELA-AU 1 227073232 227073232 single base substitution C A splice_region_variant MELA-AU 1 227073329 227073329 single base substitution C T downstream_gene_variant MELA-AU 1 227073329 227073329 single base substitution C T exon_variant MELA-AU 1 227073329 227073329 single base substitution C T intron_variant MELA-AU 1 227073329 227073329 single base substitution C T synonymous_variant I149I 447C>T MELA-AU 1 227073329 227073329 single base substitution C T synonymous_variant I182I 546C>T MELA-AU 1 227073329 227073329 single base substitution C T synonymous_variant I5I 15C>T MELA-AU 1 227073329 227073329 single base substitution C T upstream_gene_variant MELA-AU 1 227073422 227073422 single base substitution C T downstream_gene_variant MELA-AU 1 227073422 227073422 single base substitution C T intron_variant MELA-AU 1 227073422 227073422 single base substitution C T upstream_gene_variant MELA-AU 1 227073525 227073525 single base substitution C T downstream_gene_variant MELA-AU 1 227073525 227073525 single base substitution C T intron_variant MELA-AU 1 227073525 227073525 single base substitution C T upstream_gene_variant MELA-AU 1 227073863 227073863 single base substitution C T downstream_gene_variant MELA-AU 1 227073863 227073863 single base substitution C T intron_variant MELA-AU 1 227073863 227073863 single base substitution C T upstream_gene_variant MELA-AU 1 227074235 227074236 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 227074235 227074236 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 227074235 227074236 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 227074236 227074236 single base substitution C T downstream_gene_variant MELA-AU 1 227074236 227074236 single base substitution C T intron_variant MELA-AU 1 227074236 227074236 single base substitution C T upstream_gene_variant MELA-AU 1 227074449 227074449 single base substitution C T downstream_gene_variant MELA-AU 1 227074449 227074449 single base substitution C T intron_variant MELA-AU 1 227074449 227074449 single base substitution C T upstream_gene_variant MELA-AU 1 227075662 227075663 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 1 227075662 227075663 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 227075662 227075663 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 1 227076159 227076159 single base substitution C T downstream_gene_variant MELA-AU 1 227076159 227076159 single base substitution C T intron_variant MELA-AU 1 227076159 227076159 single base substitution C T upstream_gene_variant MELA-AU 1 227076321 227076321 single base substitution C T downstream_gene_variant MELA-AU 1 227076321 227076321 single base substitution C T intron_variant MELA-AU 1 227076321 227076321 single base substitution C T upstream_gene_variant MELA-AU 1 227076450 227076450 single base substitution T C downstream_gene_variant MELA-AU 1 227076450 227076450 single base substitution T C intron_variant MELA-AU 1 227076450 227076450 single base substitution T C upstream_gene_variant MELA-AU 1 227077364 227077364 single base substitution C T downstream_gene_variant MELA-AU 1 227077364 227077364 single base substitution C T intron_variant MELA-AU 1 227077364 227077364 single base substitution C T upstream_gene_variant MELA-AU 1 227077529 227077529 single base substitution T A downstream_gene_variant MELA-AU 1 227077529 227077529 single base substitution T A intron_variant MELA-AU 1 227077529 227077529 single base substitution T A upstream_gene_variant MELA-AU 1 227077572 227077572 single base substitution C T downstream_gene_variant MELA-AU 1 227077572 227077572 single base substitution C T intron_variant MELA-AU 1 227077572 227077572 single base substitution C T upstream_gene_variant MELA-AU 1 227079176 227079176 single base substitution G A downstream_gene_variant MELA-AU 1 227079176 227079176 single base substitution G A intron_variant MELA-AU 1 227079236 227079236 single base substitution C T downstream_gene_variant MELA-AU 1 227079236 227079236 single base substitution C T intron_variant MELA-AU 1 227079313 227079313 single base substitution G A downstream_gene_variant MELA-AU 1 227079313 227079313 single base substitution G A intron_variant MELA-AU 1 227079325 227079325 single base substitution C T downstream_gene_variant MELA-AU 1 227079325 227079325 single base substitution C T intron_variant MELA-AU 1 227079613 227079613 single base substitution C T downstream_gene_variant MELA-AU 1 227079613 227079613 single base substitution C T intron_variant MELA-AU 1 227079662 227079662 insertion of <=200bp - T downstream_gene_variant MELA-AU 1 227079662 227079662 insertion of <=200bp - T intron_variant MELA-AU 1 227079910 227079910 single base substitution C T downstream_gene_variant MELA-AU 1 227079910 227079910 single base substitution C T intron_variant MELA-AU 1 227080664 227080664 single base substitution C T downstream_gene_variant MELA-AU 1 227080664 227080664 single base substitution C T intron_variant MELA-AU 1 227080807 227080808 multiple base substitution (>=2bp and <=200bp) TT AC downstream_gene_variant MELA-AU 1 227080807 227080808 multiple base substitution (>=2bp and <=200bp) TT AC intron_variant MELA-AU 1 227080881 227080881 single base substitution C T downstream_gene_variant MELA-AU 1 227080881 227080881 single base substitution C T intron_variant MELA-AU 1 227080891 227080891 single base substitution C T downstream_gene_variant MELA-AU 1 227080891 227080891 single base substitution C T intron_variant MELA-AU 1 227081066 227081066 single base substitution G A downstream_gene_variant MELA-AU 1 227081066 227081066 single base substitution G A intron_variant MELA-AU 1 227081284 227081284 single base substitution G A downstream_gene_variant MELA-AU 1 227081284 227081284 single base substitution G A intron_variant MELA-AU 1 227082098 227082098 single base substitution G T downstream_gene_variant MELA-AU 1 227082098 227082098 single base substitution G T intron_variant MELA-AU 1 227082451 227082451 single base substitution C T downstream_gene_variant MELA-AU 1 227082451 227082451 single base substitution C T intron_variant MELA-AU 1 227082588 227082588 single base substitution C T downstream_gene_variant MELA-AU 1 227082588 227082588 single base substitution C T intron_variant MELA-AU 1 227083452 227083452 single base substitution C T 3_prime_UTR_variant MELA-AU 1 227083452 227083452 single base substitution C T downstream_gene_variant MELA-AU 1 227083452 227083452 single base substitution C T intron_variant MELA-AU 1 227083652 227083652 single base substitution C T 3_prime_UTR_variant MELA-AU 1 227083652 227083652 single base substitution C T downstream_gene_variant MELA-AU 1 227083653 227083653 single base substitution C T 3_prime_UTR_variant MELA-AU 1 227083653 227083653 single base substitution C T downstream_gene_variant MELA-AU 1 227083898 227083898 insertion of <=200bp - A downstream_gene_variant MELA-AU 1 227083931 227083931 single base substitution C T downstream_gene_variant MELA-AU 1 227084018 227084018 single base substitution T C downstream_gene_variant MELA-AU 1 227084184 227084184 single base substitution T C downstream_gene_variant MELA-AU 1 227086112 227086112 single base substitution C T downstream_gene_variant MELA-AU 1 227086168 227086169 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 227086172 227086172 single base substitution C T downstream_gene_variant MELA-AU 1 227086622 227086623 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 227086626 227086626 single base substitution C T downstream_gene_variant MELA-AU 1 227086729 227086729 single base substitution T C downstream_gene_variant MELA-AU 1 227086782 227086782 single base substitution C T downstream_gene_variant MELA-AU 1 227086810 227086810 single base substitution C T downstream_gene_variant MELA-AU 1 227087061 227087061 single base substitution C T downstream_gene_variant MELA-AU 1 227087389 227087389 single base substitution C T downstream_gene_variant MELA-AU 1 227087532 227087532 single base substitution C T downstream_gene_variant MELA-AU 1 227087552 227087552 single base substitution T C downstream_gene_variant MELA-AU 1 227087638 227087638 single base substitution C T downstream_gene_variant MELA-AU 1 227087695 227087695 single base substitution C T downstream_gene_variant MELA-AU 1 227087899 227087899 single base substitution C T downstream_gene_variant MELA-AU 1 227087915 227087915 single base substitution G A downstream_gene_variant ORCA-IN 1 227071448 227071448 single base substitution C A downstream_gene_variant ORCA-IN 1 227071448 227071448 single base substitution C A exon_variant ORCA-IN 1 227071448 227071448 single base substitution C A intron_variant ORCA-IN 1 227071448 227071448 single base substitution C A missense_variant R62S 184C>A ORCA-IN 1 227071448 227071448 single base substitution C A missense_variant R95S 283C>A ORCA-IN 1 227071448 227071448 single base substitution C A upstream_gene_variant ORCA-IN 1 227086942 227086942 deletion of <=200bp T - downstream_gene_variant OV-AU 1 227062313 227062313 single base substitution A G intron_variant OV-AU 1 227066632 227066632 single base substitution G T downstream_gene_variant OV-AU 1 227066632 227066632 single base substitution G T intron_variant OV-AU 1 227066632 227066632 single base substitution G T upstream_gene_variant OV-AU 1 227067388 227067388 single base substitution T C downstream_gene_variant OV-AU 1 227067388 227067388 single base substitution T C intron_variant OV-AU 1 227067388 227067388 single base substitution T C upstream_gene_variant OV-AU 1 227068877 227068877 single base substitution C G intron_variant OV-AU 1 227068877 227068877 single base substitution C G upstream_gene_variant OV-AU 1 227082434 227082434 single base substitution G T downstream_gene_variant OV-AU 1 227082434 227082434 single base substitution G T intron_variant OV-AU 1 227083094 227083094 single base substitution C G downstream_gene_variant OV-AU 1 227083094 227083094 single base substitution C G intron_variant OV-AU 1 227087726 227087726 single base substitution G A downstream_gene_variant OV-AU 1 227088778 227088778 single base substitution G A downstream_gene_variant PACA-AU 1 227053135 227053135 single base substitution T C upstream_gene_variant PACA-AU 1 227053533 227053533 single base substitution C T upstream_gene_variant PACA-AU 1 227053882 227053882 single base substitution G A upstream_gene_variant PACA-AU 1 227055983 227055983 single base substitution C A upstream_gene_variant PACA-AU 1 227059150 227059150 single base substitution C G intron_variant PACA-AU 1 227066282 227066282 single base substitution G T downstream_gene_variant PACA-AU 1 227066282 227066282 single base substitution G T intron_variant PACA-AU 1 227066282 227066282 single base substitution G T upstream_gene_variant PACA-AU 1 227067113 227067113 single base substitution T C downstream_gene_variant PACA-AU 1 227067113 227067113 single base substitution T C intron_variant PACA-AU 1 227067113 227067113 single base substitution T C upstream_gene_variant PACA-AU 1 227078247 227078247 single base substitution A G downstream_gene_variant PACA-AU 1 227078247 227078247 single base substitution A G intron_variant PACA-AU 1 227078247 227078247 single base substitution A G upstream_gene_variant PACA-AU 1 227082060 227082060 single base substitution G T downstream_gene_variant PACA-AU 1 227082060 227082060 single base substitution G T intron_variant PACA-AU 1 227083657 227083657 single base substitution C T 3_prime_UTR_variant PACA-AU 1 227083657 227083657 single base substitution C T downstream_gene_variant PACA-AU 1 227085719 227085719 single base substitution G A downstream_gene_variant PACA-CA 1 227053836 227053836 single base substitution A G upstream_gene_variant PACA-CA 1 227054184 227054184 single base substitution G A upstream_gene_variant PACA-CA 1 227057356 227057356 single base substitution C T upstream_gene_variant PACA-CA 1 227060737 227060737 single base substitution G A intron_variant PACA-CA 1 227061118 227061118 deletion of <=200bp A - intron_variant PACA-CA 1 227063892 227063892 single base substitution C A downstream_gene_variant PACA-CA 1 227063892 227063892 single base substitution C A intron_variant PACA-CA 1 227063892 227063892 single base substitution C A upstream_gene_variant PACA-CA 1 227063898 227063898 single base substitution G C downstream_gene_variant PACA-CA 1 227063898 227063898 single base substitution G C intron_variant PACA-CA 1 227063898 227063898 single base substitution G C upstream_gene_variant PACA-CA 1 227067734 227067734 single base substitution G T downstream_gene_variant PACA-CA 1 227067734 227067734 single base substitution G T intron_variant PACA-CA 1 227067734 227067734 single base substitution G T upstream_gene_variant PACA-CA 1 227068164 227068164 single base substitution G T downstream_gene_variant PACA-CA 1 227068164 227068164 single base substitution G T intron_variant PACA-CA 1 227068164 227068164 single base substitution G T splice_region_variant PACA-CA 1 227068164 227068164 single base substitution G T upstream_gene_variant PACA-CA 1 227068187 227068187 single base substitution T C 5_prime_UTR_variant PACA-CA 1 227068187 227068187 single base substitution T C downstream_gene_variant PACA-CA 1 227068187 227068187 single base substitution T C intron_variant PACA-CA 1 227068187 227068187 single base substitution T C upstream_gene_variant PACA-CA 1 227068322 227068322 single base substitution A C 5_prime_UTR_variant PACA-CA 1 227068322 227068322 single base substitution A C intron_variant PACA-CA 1 227068322 227068322 single base substitution A C upstream_gene_variant PACA-CA 1 227073742 227073742 single base substitution T A downstream_gene_variant PACA-CA 1 227073742 227073742 single base substitution T A intron_variant PACA-CA 1 227073742 227073742 single base substitution T A upstream_gene_variant PACA-CA 1 227075141 227075141 single base substitution C T downstream_gene_variant PACA-CA 1 227075141 227075141 single base substitution C T intron_variant PACA-CA 1 227075141 227075141 single base substitution C T upstream_gene_variant PACA-CA 1 227076607 227076615 deletion of <=200bp GCATGGTGT - downstream_gene_variant PACA-CA 1 227076607 227076615 deletion of <=200bp GCATGGTGT - exon_variant PACA-CA 1 227076607 227076615 deletion of <=200bp GCATGGTGT - inframe_deletion GMVC215G PACA-CA 1 227076607 227076615 deletion of <=200bp GCATGGTGT - inframe_deletion GMVC248G PACA-CA 1 227076607 227076615 deletion of <=200bp GCATGGTGT - inframe_deletion GMVC42G PACA-CA 1 227076607 227076615 deletion of <=200bp GCATGGTGT - inframe_deletion GMVC71G PACA-CA 1 227076607 227076615 deletion of <=200bp GCATGGTGT - upstream_gene_variant PACA-CA 1 227077414 227077414 insertion of <=200bp - ATTA downstream_gene_variant PACA-CA 1 227077414 227077414 insertion of <=200bp - ATTA intron_variant PACA-CA 1 227077414 227077414 insertion of <=200bp - ATTA upstream_gene_variant PACA-CA 1 227079172 227079172 single base substitution A G downstream_gene_variant PACA-CA 1 227079172 227079172 single base substitution A G intron_variant PACA-CA 1 227083209 227083209 single base substitution T G 3_prime_UTR_variant PACA-CA 1 227083209 227083209 single base substitution T G downstream_gene_variant PACA-CA 1 227083209 227083209 single base substitution T G exon_variant PACA-CA 1 227083209 227083209 single base substitution T G missense_variant F282V 844T>G PACA-CA 1 227083209 227083209 single base substitution T G missense_variant F393V 1177T>G PACA-CA 1 227083209 227083209 single base substitution T G missense_variant F425V 1273T>G PACA-CA 1 227083209 227083209 single base substitution T G missense_variant F426V 1276T>G PACA-CA 1 227083209 227083209 single base substitution T G missense_variant F459V 1375T>G PACA-CA 1 227084196 227084196 single base substitution C G downstream_gene_variant PACA-CA 1 227085552 227085552 single base substitution G A downstream_gene_variant PACA-CA 1 227086107 227086107 single base substitution G C downstream_gene_variant PACA-CA 1 227087054 227087054 single base substitution C T downstream_gene_variant PAEN-AU 1 227058538 227058538 single base substitution G A intron_variant PAEN-AU 1 227058538 227058538 single base substitution G A upstream_gene_variant PAEN-AU 1 227062478 227062478 single base substitution G T intron_variant PAEN-AU 1 227073627 227073627 single base substitution G A downstream_gene_variant PAEN-AU 1 227073627 227073627 single base substitution G A intron_variant PAEN-AU 1 227073627 227073627 single base substitution G A upstream_gene_variant PAEN-IT 1 227065198 227065198 single base substitution C T downstream_gene_variant PAEN-IT 1 227065198 227065198 single base substitution C T intron_variant PAEN-IT 1 227065198 227065198 single base substitution C T upstream_gene_variant PBCA-DE 1 227068243 227068246 deletion of <=200bp GACA - 5_prime_UTR_variant PBCA-DE 1 227068243 227068246 deletion of <=200bp GACA - downstream_gene_variant PBCA-DE 1 227068243 227068246 deletion of <=200bp GACA - intron_variant PBCA-DE 1 227068243 227068246 deletion of <=200bp GACA - upstream_gene_variant PBCA-DE 1 227068322 227068322 single base substitution A C 5_prime_UTR_variant PBCA-DE 1 227068322 227068322 single base substitution A C intron_variant PBCA-DE 1 227068322 227068322 single base substitution A C upstream_gene_variant PBCA-DE 1 227069693 227069693 single base substitution C T downstream_gene_variant PBCA-DE 1 227069693 227069693 single base substitution C T exon_variant PBCA-DE 1 227069693 227069693 single base substitution C T intron_variant PBCA-DE 1 227069693 227069693 single base substitution C T missense_variant R29C 85C>T PBCA-DE 1 227069693 227069693 single base substitution C T missense_variant R62C 184C>T PBCA-DE 1 227069693 227069693 single base substitution C T upstream_gene_variant PBCA-DE 1 227070771 227070771 single base substitution G A downstream_gene_variant PBCA-DE 1 227070771 227070771 single base substitution G A intron_variant PBCA-DE 1 227070771 227070771 single base substitution G A upstream_gene_variant PBCA-DE 1 227073324 227073324 single base substitution G A downstream_gene_variant PBCA-DE 1 227073324 227073324 single base substitution G A exon_variant PBCA-DE 1 227073324 227073324 single base substitution G A intron_variant PBCA-DE 1 227073324 227073324 single base substitution G A missense_variant V148I 442G>A PBCA-DE 1 227073324 227073324 single base substitution G A missense_variant V181I 541G>A PBCA-DE 1 227073324 227073324 single base substitution G A missense_variant V4I 10G>A PBCA-DE 1 227073324 227073324 single base substitution G A upstream_gene_variant PBCA-DE 1 227080341 227080341 single base substitution C T downstream_gene_variant PBCA-DE 1 227080341 227080341 single base substitution C T intron_variant PBCA-DE 1 227083371 227083371 single base substitution G T 3_prime_UTR_variant PBCA-DE 1 227083371 227083371 single base substitution G T downstream_gene_variant PBCA-DE 1 227083371 227083371 single base substitution G T intron_variant PRAD-CA 1 227061468 227061468 single base substitution A G intron_variant PRAD-CA 1 227068322 227068322 single base substitution A C 5_prime_UTR_variant PRAD-CA 1 227068322 227068322 single base substitution A C intron_variant PRAD-CA 1 227068322 227068322 single base substitution A C upstream_gene_variant PRAD-CA 1 227074684 227074684 single base substitution G A downstream_gene_variant PRAD-CA 1 227074684 227074684 single base substitution G A intron_variant PRAD-CA 1 227074684 227074684 single base substitution G A upstream_gene_variant PRAD-CA 1 227075060 227075060 single base substitution G A downstream_gene_variant PRAD-CA 1 227075060 227075060 single base substitution G A intron_variant PRAD-CA 1 227075060 227075060 single base substitution G A upstream_gene_variant PRAD-CA 1 227075984 227075984 single base substitution G A downstream_gene_variant PRAD-CA 1 227075984 227075984 single base substitution G A intron_variant PRAD-CA 1 227075984 227075984 single base substitution G A upstream_gene_variant PRAD-CA 1 227088591 227088591 single base substitution G A downstream_gene_variant PRAD-UK 1 227069338 227069338 single base substitution G A intron_variant PRAD-UK 1 227069338 227069338 single base substitution G A upstream_gene_variant READ-US 1 227083199 227083199 single base substitution C T 3_prime_UTR_variant READ-US 1 227083199 227083199 single base substitution C T downstream_gene_variant READ-US 1 227083199 227083199 single base substitution C T exon_variant READ-US 1 227083199 227083199 single base substitution C T synonymous_variant F278F 834C>T READ-US 1 227083199 227083199 single base substitution C T synonymous_variant F389F 1167C>T READ-US 1 227083199 227083199 single base substitution C T synonymous_variant F421F 1263C>T READ-US 1 227083199 227083199 single base substitution C T synonymous_variant F422F 1266C>T READ-US 1 227083199 227083199 single base substitution C T synonymous_variant F455F 1365C>T RECA-EU 1 227061096 227061096 single base substitution T C intron_variant RECA-EU 1 227063744 227063744 single base substitution G A downstream_gene_variant RECA-EU 1 227063744 227063744 single base substitution G A intron_variant RECA-EU 1 227063744 227063744 single base substitution G A upstream_gene_variant RECA-EU 1 227066502 227066502 single base substitution C A downstream_gene_variant RECA-EU 1 227066502 227066502 single base substitution C A intron_variant RECA-EU 1 227066502 227066502 single base substitution C A upstream_gene_variant SKCA-BR 1 227061310 227061310 single base substitution T G intron_variant SKCA-BR 1 227062485 227062485 single base substitution C G intron_variant SKCA-BR 1 227065788 227065788 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 227065788 227065788 insertion of <=200bp - CT intron_variant SKCA-BR 1 227065788 227065788 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 1 227068227 227068227 single base substitution G A 5_prime_UTR_variant SKCA-BR 1 227068227 227068227 single base substitution G A downstream_gene_variant SKCA-BR 1 227068227 227068227 single base substitution G A intron_variant SKCA-BR 1 227068227 227068227 single base substitution G A upstream_gene_variant SKCA-BR 1 227068242 227068246 deletion of <=200bp GGACA - 5_prime_UTR_variant SKCA-BR 1 227068242 227068246 deletion of <=200bp GGACA - downstream_gene_variant SKCA-BR 1 227068242 227068246 deletion of <=200bp GGACA - intron_variant SKCA-BR 1 227068242 227068246 deletion of <=200bp GGACA - upstream_gene_variant SKCA-BR 1 227068246 227068268 deletion of <=200bp AGACAGCGATCACTCAGCCTCTG - 5_prime_UTR_variant SKCA-BR 1 227068246 227068268 deletion of <=200bp AGACAGCGATCACTCAGCCTCTG - downstream_gene_variant SKCA-BR 1 227068246 227068268 deletion of <=200bp AGACAGCGATCACTCAGCCTCTG - intron_variant SKCA-BR 1 227068246 227068268 deletion of <=200bp AGACAGCGATCACTCAGCCTCTG - upstream_gene_variant SKCA-BR 1 227068613 227068613 single base substitution C T intron_variant SKCA-BR 1 227068613 227068613 single base substitution C T upstream_gene_variant SKCA-BR 1 227068615 227068615 single base substitution C T intron_variant SKCA-BR 1 227068615 227068615 single base substitution C T upstream_gene_variant SKCA-BR 1 227068803 227068803 single base substitution C T intron_variant SKCA-BR 1 227068803 227068803 single base substitution C T upstream_gene_variant SKCA-BR 1 227069893 227069893 single base substitution C T downstream_gene_variant SKCA-BR 1 227069893 227069893 single base substitution C T intron_variant SKCA-BR 1 227069893 227069893 single base substitution C T upstream_gene_variant SKCA-BR 1 227074002 227074002 single base substitution C T downstream_gene_variant SKCA-BR 1 227074002 227074002 single base substitution C T intron_variant SKCA-BR 1 227074002 227074002 single base substitution C T upstream_gene_variant SKCA-BR 1 227079397 227079397 single base substitution C T downstream_gene_variant SKCA-BR 1 227079397 227079397 single base substitution C T intron_variant SKCA-BR 1 227080452 227080452 single base substitution G A downstream_gene_variant SKCA-BR 1 227080452 227080452 single base substitution G A intron_variant SKCA-BR 1 227080482 227080482 single base substitution A C downstream_gene_variant SKCA-BR 1 227080482 227080482 single base substitution A C intron_variant SKCA-BR 1 227086195 227086195 single base substitution T C downstream_gene_variant SKCA-BR 1 227086197 227086197 single base substitution T A downstream_gene_variant SKCA-BR 1 227086547 227086547 single base substitution C T downstream_gene_variant SKCA-BR 1 227086937 227086937 single base substitution T C downstream_gene_variant SKCA-BR 1 227088606 227088606 single base substitution A G downstream_gene_variant SKCA-BR 1 227088608 227088608 single base substitution C T downstream_gene_variant SKCM-US 1 227069665 227069665 single base substitution C T exon_variant SKCM-US 1 227069665 227069665 single base substitution C T intron_variant SKCM-US 1 227069665 227069665 single base substitution C T synonymous_variant S19S 57C>T SKCM-US 1 227069665 227069665 single base substitution C T synonymous_variant S52S 156C>T SKCM-US 1 227069665 227069665 single base substitution C T upstream_gene_variant SKCM-US 1 227069743 227069743 single base substitution C T downstream_gene_variant SKCM-US 1 227069743 227069743 single base substitution C T exon_variant SKCM-US 1 227069743 227069743 single base substitution C T intron_variant SKCM-US 1 227069743 227069743 single base substitution C T synonymous_variant A45A 135C>T SKCM-US 1 227069743 227069743 single base substitution C T synonymous_variant A78A 234C>T SKCM-US 1 227069743 227069743 single base substitution C T upstream_gene_variant SKCM-US 1 227071564 227071564 single base substitution C T downstream_gene_variant SKCM-US 1 227071564 227071564 single base substitution C T exon_variant SKCM-US 1 227071564 227071564 single base substitution C T intron_variant SKCM-US 1 227071564 227071564 single base substitution C T synonymous_variant I100I 300C>T SKCM-US 1 227071564 227071564 single base substitution C T synonymous_variant I133I 399C>T SKCM-US 1 227071564 227071564 single base substitution C T upstream_gene_variant SKCM-US 1 227076736 227076736 single base substitution C T downstream_gene_variant SKCM-US 1 227076736 227076736 single base substitution C T exon_variant SKCM-US 1 227076736 227076736 single base substitution C T missense_variant A114V 341C>T SKCM-US 1 227076736 227076736 single base substitution C T missense_variant A258V 773C>T SKCM-US 1 227076736 227076736 single base substitution C T missense_variant A291V 872C>T SKCM-US 1 227076736 227076736 single base substitution C T missense_variant A85V 254C>T SKCM-US 1 227076736 227076736 single base substitution C T upstream_gene_variant SKCM-US 1 227077815 227077815 single base substitution C T downstream_gene_variant SKCM-US 1 227077815 227077815 single base substitution C T exon_variant SKCM-US 1 227077815 227077815 single base substitution C T intron_variant SKCM-US 1 227077815 227077815 single base substitution C T synonymous_variant F116F 348C>T SKCM-US 1 227077815 227077815 single base substitution C T synonymous_variant F145F 435C>T SKCM-US 1 227077815 227077815 single base substitution C T synonymous_variant F289F 867C>T SKCM-US 1 227077815 227077815 single base substitution C T synonymous_variant F322F 966C>T SKCM-US 1 227077815 227077815 single base substitution C T upstream_gene_variant SKCM-US 1 227083261 227083261 single base substitution C T downstream_gene_variant SKCM-US 1 227083261 227083261 single base substitution C T intron_variant SKCM-US 1 227083261 227083261 single base substitution C T missense_variant S299F 896C>T SKCM-US 1 227083261 227083261 single base substitution C T missense_variant S410F 1229C>T SKCM-US 1 227083261 227083261 single base substitution C T missense_variant S442F 1325C>T SKCM-US 1 227083261 227083261 single base substitution C T missense_variant S443F 1328C>T SKCM-US 1 227083261 227083261 single base substitution C T missense_variant S476F 1427C>T STAD-US 1 227075861 227075861 single base substitution T C downstream_gene_variant STAD-US 1 227075861 227075861 single base substitution T C splice_donor_variant STAD-US 1 227075861 227075861 single base substitution T C upstream_gene_variant STAD-US 1 227076545 227076545 single base substitution C A downstream_gene_variant STAD-US 1 227076545 227076545 single base substitution C A exon_variant STAD-US 1 227076545 227076545 single base substitution C A synonymous_variant T194T 582C>A STAD-US 1 227076545 227076545 single base substitution C A synonymous_variant T21T 63C>A STAD-US 1 227076545 227076545 single base substitution C A synonymous_variant T227T 681C>A STAD-US 1 227076545 227076545 single base substitution C A synonymous_variant T50T 150C>A STAD-US 1 227076545 227076545 single base substitution C A upstream_gene_variant STAD-US 1 227079049 227079049 single base substitution C T downstream_gene_variant STAD-US 1 227079049 227079049 single base substitution C T exon_variant STAD-US 1 227079049 227079049 single base substitution C T synonymous_variant Y175Y 525C>T STAD-US 1 227079049 227079049 single base substitution C T synonymous_variant Y286Y 858C>T STAD-US 1 227079049 227079049 single base substitution C T synonymous_variant Y319Y 957C>T STAD-US 1 227079049 227079049 single base substitution C T synonymous_variant Y352Y 1056C>T STAD-US 1 227081737 227081737 single base substitution A G 3_prime_UTR_variant STAD-US 1 227081737 227081737 single base substitution A G downstream_gene_variant STAD-US 1 227081737 227081737 single base substitution A G exon_variant STAD-US 1 227081737 227081737 single base substitution A G missense_variant I224V 670A>G STAD-US 1 227081737 227081737 single base substitution A G missense_variant I335V 1003A>G STAD-US 1 227081737 227081737 single base substitution A G missense_variant I367V 1099A>G STAD-US 1 227081737 227081737 single base substitution A G missense_variant I368V 1102A>G STAD-US 1 227081737 227081737 single base substitution A G missense_variant I401V 1201A>G THCA-SA 1 227069737 227069737 single base substitution C T downstream_gene_variant THCA-SA 1 227069737 227069737 single base substitution C T exon_variant THCA-SA 1 227069737 227069737 single base substitution C T intron_variant THCA-SA 1 227069737 227069737 single base substitution C T synonymous_variant N43N 129C>T THCA-SA 1 227069737 227069737 single base substitution C T synonymous_variant N76N 228C>T THCA-SA 1 227069737 227069737 single base substitution C T upstream_gene_variant THCA-SA 1 227071449 227071449 single base substitution G A downstream_gene_variant THCA-SA 1 227071449 227071449 single base substitution G A exon_variant THCA-SA 1 227071449 227071449 single base substitution G A intron_variant THCA-SA 1 227071449 227071449 single base substitution G A missense_variant R62H 185G>A THCA-SA 1 227071449 227071449 single base substitution G A missense_variant R95H 284G>A THCA-SA 1 227071449 227071449 single base substitution G A upstream_gene_variant THCA-SA 1 227071525 227071525 single base substitution C T downstream_gene_variant THCA-SA 1 227071525 227071525 single base substitution C T exon_variant THCA-SA 1 227071525 227071525 single base substitution C T intron_variant THCA-SA 1 227071525 227071525 single base substitution C T synonymous_variant H120H 360C>T THCA-SA 1 227071525 227071525 single base substitution C T synonymous_variant H87H 261C>T THCA-SA 1 227071525 227071525 single base substitution C T upstream_gene_variant THCA-SA 1 227083550 227083550 single base substitution C T 3_prime_UTR_variant THCA-SA 1 227083550 227083550 single base substitution C T downstream_gene_variant UCEC-US 1 227069694 227069694 single base substitution G A downstream_gene_variant UCEC-US 1 227069694 227069694 single base substitution G A exon_variant UCEC-US 1 227069694 227069694 single base substitution G A intron_variant UCEC-US 1 227069694 227069694 single base substitution G A missense_variant R29H 86G>A UCEC-US 1 227069694 227069694 single base substitution G A missense_variant R62H 185G>A UCEC-US 1 227069694 227069694 single base substitution G A upstream_gene_variant UCEC-US 1 227073295 227073295 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 227073295 227073295 single base substitution C G downstream_gene_variant UCEC-US 1 227073295 227073295 single base substitution C G exon_variant UCEC-US 1 227073295 227073295 single base substitution C G intron_variant UCEC-US 1 227073295 227073295 single base substitution C G missense_variant S138C 413C>G UCEC-US 1 227073295 227073295 single base substitution C G missense_variant S171C 512C>G UCEC-US 1 227073295 227073295 single base substitution C G upstream_gene_variant UCEC-US 1 227073357 227073357 single base substitution C A downstream_gene_variant UCEC-US 1 227073357 227073357 single base substitution C A exon_variant UCEC-US 1 227073357 227073357 single base substitution C A intron_variant UCEC-US 1 227073357 227073357 single base substitution C A missense_variant L159I 475C>A UCEC-US 1 227073357 227073357 single base substitution C A missense_variant L15I 43C>A UCEC-US 1 227073357 227073357 single base substitution C A missense_variant L192I 574C>A UCEC-US 1 227073357 227073357 single base substitution C A upstream_gene_variant UCEC-US 1 227075812 227075812 single base substitution C T 5_prime_UTR_variant UCEC-US 1 227075812 227075812 single base substitution C T downstream_gene_variant UCEC-US 1 227075812 227075812 single base substitution C T exon_variant UCEC-US 1 227075812 227075812 single base substitution C T synonymous_variant I173I 519C>T UCEC-US 1 227075812 227075812 single base substitution C T synonymous_variant I206I 618C>T UCEC-US 1 227075812 227075812 single base substitution C T synonymous_variant I29I 87C>T UCEC-US 1 227075812 227075812 single base substitution C T upstream_gene_variant UCEC-US 1 227076664 227076664 single base substitution T C downstream_gene_variant UCEC-US 1 227076664 227076664 single base substitution T C exon_variant UCEC-US 1 227076664 227076664 single base substitution T C missense_variant M234T 701T>C UCEC-US 1 227076664 227076664 single base substitution T C missense_variant M267T 800T>C UCEC-US 1 227076664 227076664 single base substitution T C missense_variant M61T 182T>C UCEC-US 1 227076664 227076664 single base substitution T C missense_variant M90T 269T>C UCEC-US 1 227076664 227076664 single base substitution T C upstream_gene_variant UCEC-US 1 227077799 227077799 single base substitution G T downstream_gene_variant UCEC-US 1 227077799 227077799 single base substitution G T exon_variant UCEC-US 1 227077799 227077799 single base substitution G T intron_variant UCEC-US 1 227077799 227077799 single base substitution G T missense_variant R111I 332G>T UCEC-US 1 227077799 227077799 single base substitution G T missense_variant R140I 419G>T UCEC-US 1 227077799 227077799 single base substitution G T missense_variant R284I 851G>T UCEC-US 1 227077799 227077799 single base substitution G T missense_variant R317I 950G>T UCEC-US 1 227077799 227077799 single base substitution G T upstream_gene_variant UCEC-US 1 227079056 227079056 single base substitution G A downstream_gene_variant UCEC-US 1 227079056 227079056 single base substitution G A exon_variant UCEC-US 1 227079056 227079056 single base substitution G A missense_variant E178K 532G>A UCEC-US 1 227079056 227079056 single base substitution G A missense_variant E289K 865G>A UCEC-US 1 227079056 227079056 single base substitution G A missense_variant E322K 964G>A UCEC-US 1 227079056 227079056 single base substitution G A missense_variant E355K 1063G>A UCEC-US 1 227081780 227081780 single base substitution G C 3_prime_UTR_variant UCEC-US 1 227081780 227081780 single base substitution G C downstream_gene_variant UCEC-US 1 227081780 227081780 single base substitution G C exon_variant UCEC-US 1 227081780 227081780 single base substitution G C missense_variant S238T 713G>C UCEC-US 1 227081780 227081780 single base substitution G C missense_variant S349T 1046G>C UCEC-US 1 227081780 227081780 single base substitution G C missense_variant S381T 1142G>C UCEC-US 1 227081780 227081780 single base substitution G C missense_variant S382T 1145G>C UCEC-US 1 227081780 227081780 single base substitution G C missense_variant S415T 1244G>C UCEC-US 1 227081812 227081812 single base substitution G A 3_prime_UTR_variant UCEC-US 1 227081812 227081812 single base substitution G A downstream_gene_variant UCEC-US 1 227081812 227081812 single base substitution G A exon_variant UCEC-US 1 227081812 227081812 single base substitution G A missense_variant V249M 745G>A UCEC-US 1 227081812 227081812 single base substitution G A missense_variant V360M 1078G>A UCEC-US 1 227081812 227081812 single base substitution G A missense_variant V392M 1174G>A UCEC-US 1 227081812 227081812 single base substitution G A missense_variant V393M 1177G>A UCEC-US 1 227081812 227081812 single base substitution G A missense_variant V426M 1276G>A UCEC-US 1 227083146 227083146 single base substitution C T 3_prime_UTR_variant UCEC-US 1 227083146 227083146 single base substitution C T downstream_gene_variant UCEC-US 1 227083146 227083146 single base substitution C T exon_variant UCEC-US 1 227083146 227083146 single base substitution C T synonymous_variant L261L 781C>T UCEC-US 1 227083146 227083146 single base substitution C T synonymous_variant L372L 1114C>T UCEC-US 1 227083146 227083146 single base substitution C T synonymous_variant L404L 1210C>T UCEC-US 1 227083146 227083146 single base substitution C T synonymous_variant L405L 1213C>T UCEC-US 1 227083146 227083146 single base substitution C T synonymous_variant L438L 1312C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-29-T COSM4462708 c.1257C>T p.S419S Substitution - coding silent 1:226895489-226895489 + TCGA-BT-A3PJ-01 COSM414602 c.255G>A p.A85A Substitution - coding silent 1:226883818-226883818 + LUAD-YINHD COSM349980 c.51G>T p.R17R Substitution - coding silent 1:226881958-226881958 + TCGA-29-1698-01 COSM1320438 c.763A>T p.I255F Substitution - Missense 1:226889025-226889025 + TCGA-BS-A0UV-01 COSM904779 c.1177G>A p.V393M Substitution - Missense 1:226894111-226894111 + NCI-H727 COSM1961952 c.1144A>T p.S382C Substitution - Missense 1:226894078-226894078 + CSCC-15-T COSM4566482 c.390_391GG>AA p.V131M Substitution - Missense 1:226885571-226885572 + TCGA-D3-A51T-06 COSM3484312 c.867C>T p.F289F Substitution - coding silent 1:226890114-226890114 + 66 COSM5742813 c.342G>T p.E114D Substitution - Missense 1:226883905-226883905 + 1N28-VS-1T28 COSM4973719 c.415G>A p.V139M Substitution - Missense 1:226885596-226885596 + 61 COSM5735856 c.442G>A p.V148I Substitution - Missense 1:226885623-226885623 + TCGA-BK-A0C9-01 COSM904775 c.778T>C p.S260P Substitution - Missense 1:226889040-226889040 + SWE-42 COSM1179983 c.441C>T p.S147S Substitution - coding silent 1:226885622-226885622 + TCGA-CG-4305-01 COSM4028750 c.957C>T p.Y319Y Substitution - coding silent 1:226891348-226891348 + TCGA-D3-A1QB-06 COSM3484309 c.135C>T p.A45A Substitution - coding silent 1:226882042-226882042 + TCGA-AC-A3W5-01 COSM904769 c.86G>A p.R29H Substitution - Missense 1:226881993-226881993 + HCC093T COSM5810868 c.1221T>A p.A407A Substitution - coding silent 1:226895453-226895453 + YULAN COSM1689923 c.1010_1011CC>AT p.P337H Substitution - Missense 1:226891782-226891783 + 389 COSM95094 c.1130C>T p.A377V Substitution - Missense 1:226894064-226894064 + CSCC-29-T COSM4476321 c.205C>T p.P69S Substitution - Missense 1:226883768-226883768 + C058 COSM5525470 c.465C>T p.F155F Substitution - coding silent 1:226885646-226885646 + 3844_T COSM3977116 c.1096G>C p.D366H Substitution - Missense 1:226894030-226894030 + TCGA-D1-A177-01 COSM904780 c.1213C>T p.L405L Substitution - coding silent 1:226895445-226895445 + TCGA-D3-A3C6-06 COSM3484314 c.1328C>T p.S443F Substitution - Missense 1:226895560-226895560 + 112281 COSM95094 c.1130C>T p.A377V Substitution - Missense 1:226894064-226894064 + KM12 COSM1961929 c.63G>A p.M21I Substitution - Missense 1:226881970-226881970 + CN-AML-NR-08-Dx COSM4143427 c.261C>T p.H87H Substitution - coding silent 1:226883824-226883824 + 3N08-VS-3T08 COSM4978975 c.447C>T p.I149I Substitution - coding silent 1:226885628-226885628 + PT37 COSM5917356 c.668G>A p.G223D Substitution - Missense 1:226888930-226888930 + TCGA-EE-A20C-06 COSM3484307 c.57C>T p.S19S Substitution - coding silent 1:226881964-226881964 + PT14_1 COSM4232740 c.958G>A p.D320N Substitution - Missense 1:226891349-226891349 + ESCC_BICR_067T COSM5433379 c.849G>C p.E283D Substitution - Missense 1:226890096-226890096 + TCGA-D7-6527-01 COSM4028752 c.1102A>G p.I368V Substitution - Missense 1:226894036-226894036 + TCGA-EX-A1H5-01 COSM459570 c.592G>T p.A198S Substitution - Missense 1:226888854-226888854 + S02237 COSM5676372 c.974A>G p.E325G Substitution - Missense 1:226891746-226891746 + TCGA-AO-A0J8-01 COSM425470 c.811A>G p.K271E Substitution - Missense 1:226890058-226890058 + ESO-640 COSM904769 c.86G>A p.R29H Substitution - Missense 1:226881993-226881993 + TCGA-AP-A059-01 COSM904777 c.964G>A p.E322K Substitution - Missense 1:226891355-226891355 + C086 COSM284320 c.300C>T p.I100I Substitution - coding silent 1:226883863-226883863 + TCGA-B6-A0RH-01 COSM425468 c.98A>G p.E33G Substitution - Missense 1:226882005-226882005 + TCGA-AP-A0LE-01 COSM904770 c.401G>A p.R134H Substitution - Missense 1:226885582-226885582 + TCGA-CM-5348-01 COSM1339320 c.216G>A p.P72P Substitution - coding silent 1:226883779-226883779 + HCC48 COSM1601732 c.1074G>A p.R358R Substitution - coding silent 1:226894008-226894008 + BD167T COSM5501032 c.756G>A p.A252A Substitution - coding silent 1:226889018-226889018 + TCGA-CG-4306-01 COSM4028746 c.566+2T>C p.? Unknown 1:226888160-226888160 + 35M COSM5582257 c.1004C>T p.S335L Substitution - Missense 1:226891776-226891776 + TCGA-22-4599-01 COSM679335 c.1010C>T p.P337L Substitution - Missense 1:226891782-226891782 + TCGA-CM-6171-01 COSM1339319 c.80C>T p.T27M Substitution - Missense 1:226881987-226881987 + TCGA-BT-A20Q-01 COSM414602 c.255G>A p.A85A Substitution - coding silent 1:226883818-226883818 + GC_315T-GC_315N COSM4773740 c.249C>T p.Y83Y Substitution - coding silent 1:226883812-226883812 + TCGA-D1-A17Q-01 COSM904773 c.519C>T p.I173I Substitution - coding silent 1:226888111-226888111 + HCC066T COSM5821079 c.570A>G p.E190E Substitution - coding silent 1:226888832-226888832 + SNUH_G76_S1 COSM4417773 c.69T>C p.A23A Substitution - coding silent 1:226881976-226881976 + LUAD-YINHD COSM349981 c.258G>T p.K86N Substitution - Missense 1:226883821-226883821 + TCGA-DA-A3F8-06 COSM1689922 c.773C>T p.A258V Substitution - Missense 1:226889035-226889035 + TCGA-CZ-4857-01 COSM3360716 c.643G>A p.G215S Substitution - Missense 1:226888905-226888905 + 2521252 COSM5888610 c.628A>T p.N210Y Substitution - Missense 1:226888890-226888890 + Gp5D COSM904780 c.1213C>T p.L405L Substitution - coding silent 1:226895445-226895445 + T3658 COSM4718356 c.772G>A p.A258T Substitution - Missense 1:226889034-226889034 + TCGA-AA-3842-01 COSM295242 c.792C>T p.L264L Substitution - coding silent 1:226890039-226890039 + PD4844a COSM5797582 c.374C>T p.T125I Substitution - Missense 1:226885555-226885555 + YUKLAB COSM1689921 c.311C>G p.A104G Substitution - Missense 1:226883874-226883874 + PT49 COSM5934392 c.142-6C>T p.? Unknown 1:226883699-226883699 + LP6005334-DNA_D02 COSM5035543 c.1077C>T p.G359G Substitution - coding silent 1:226894011-226894011 + PTC-14C COSM4143427 c.261C>T p.H87H Substitution - coding silent 1:226883824-226883824 + 37T COSM3710617 c.184C>A p.R62S Substitution - Missense 1:226883747-226883747 + CSCC-59-T COSM4507130 c.738C>A p.Y246* Substitution - Nonsense 1:226889000-226889000 + CSCC-5-T COSM4450148 c.467_472delTGGTGG p.V157_V158delVV Deletion - In frame 1:226885648-226885653 + ESO-708 COSM1263231 c.329G>A p.R110H Substitution - Missense 1:226883892-226883892 + TCGA-CK-5916-01 COSM1339321 c.640G>A p.V214M Substitution - Missense 1:226888902-226888902 + SWE-54A COSM1178404 c.756G>C p.A252A Substitution - coding silent 1:226889018-226889018 + TCGA-BH-A0DK-01 COSM425469 c.755C>T p.A252V Substitution - Missense 1:226889017-226889017 + TCGA-18-3421-01 COSM679336 c.284T>C p.V95A Substitution - Missense 1:226883847-226883847 + CSCC-15-T COSM4493364 c.413C>T p.S138F Substitution - Missense 1:226885594-226885594 + SNUH_G76_S1 COSM4143427 c.261C>T p.H87H Substitution - coding silent 1:226883824-226883824 + HCC54T COSM1601731 c.921G>T p.L307L Substitution - coding silent 1:226891312-226891312 + CSCC-31-T COSM4560656 c.851G>A p.R284K Substitution - Missense 1:226890098-226890098 + 86570 COSM95093 c.527C>T p.S176L Substitution - Missense 1:226888119-226888119 + TCGA-BS-A0UF-01 COSM904769 c.86G>A p.R29H Substitution - Missense 1:226881993-226881993 + 08-P054 COSM4576957 c.84G>A p.P28P Substitution - coding silent 1:226881991-226881991 + sysucc-918T COSM5453445 c.192C>T p.V64V Substitution - coding silent 1:226883755-226883755 + CSCC-27-T COSM4519496 c.1012G>A p.E338K Substitution - Missense 1:226891784-226891784 + TCGA-F4-6570-01 COSM1339322 c.710C>T p.A237V Substitution - Missense 1:226888972-226888972 + TCGA-AD-6895-01 COSM1339323 c.731T>A p.I244N Substitution - Missense 1:226888993-226888993 + TCGA-D5-6927-01 COSM1339324 c.771C>T p.G257G Substitution - coding silent 1:226889033-226889033 + T23 COSM4143427 c.261C>T p.H87H Substitution - coding silent 1:226883824-226883824 + TCGA-FW-A3R5-06 COSM284320 c.300C>T p.I100I Substitution - coding silent 1:226883863-226883863 + TCGA-EK-A2RK-01 COSM4829080 c.934C>T p.Q312* Substitution - Nonsense 1:226891325-226891325 + TCGA-EI-6917-01 COSM3418833 c.1266C>T p.F422F Substitution - coding silent 1:226895498-226895498 + LUAD-YINHD COSM349982 c.576C>G p.L192L Substitution - coding silent 1:226888838-226888838 + CHC1545T COSM4787573 c.1237C>A p.L413M Substitution - Missense 1:226895469-226895469 + PD8964a COSM5800094 c.970+9C>G p.? Unknown 1:226891370-226891370 + LS411 COSM1961945 c.589G>A p.V197M Substitution - Missense 1:226888851-226888851 + TCGA-DI-A0WH-01 COSM904778 c.1145G>C p.S382T Substitution - Missense 1:226894079-226894079 + TCGA-BS-A0UJ-01 COSM904774 c.701T>C p.M234T Substitution - Missense 1:226888963-226888963 + CN-AML-08-T COSM4143427 c.261C>T p.H87H Substitution - coding silent 1:226883824-226883824 + CHC1545T COSM4787573 c.1237C>A p.L413M Substitution - Missense 1:226895469-226895469 + TCGA-B0-4703-01 COSM3360718 c.743C>A p.P248Q Substitution - Missense 1:226889005-226889005 + CCK81 COSM1961931 c.101G>A p.G34D Substitution - Missense 1:226882008-226882008 + TCGA-AX-A0J0-01 COSM904776 c.851G>T p.R284I Substitution - Missense 1:226890098-226890098 + PT52 COSM5938752 c.860C>T p.P287L Substitution - Missense 1:226890107-226890107 + J30_T COSM3977114 c.965A>C p.E322A Substitution - Missense 1:226891356-226891356 + HCC48T COSM1601732 c.1074G>A p.R358R Substitution - coding silent 1:226894008-226894008 + TCGA-B5-A11R-01 COSM904771 c.413C>G p.S138C Substitution - Missense 1:226885594-226885594 + SNUH_G76_S1 COSM4415168 c.129C>T p.N43N Substitution - coding silent 1:226882036-226882036 + PT36 COSM5914747 c.142-7C>T p.? Unknown 1:226883698-226883698 + TCGA-BR-8487-01 COSM4028748 c.582C>A p.T194T Substitution - coding silent 1:226888844-226888844 + SNUH_G73_S1 COSM4143427 c.261C>T p.H87H Substitution - coding silent 1:226883824-226883824 + C467 COSM1339322 c.710C>T p.A237V Substitution - Missense 1:226888972-226888972 + HCC84T COSM1601733 c.1230_1231insTA p.K411fs*1 Insertion - Frameshift 1:226895462-226895463 + CSCC-59-T COSM4455362 c.744A>G p.P248P Substitution - coding silent 1:226889006-226889006 + BD6T COSM1560248 c.414C>T p.S138S Substitution - coding silent 1:226885595-226885595 + TCGA-AP-A059-01 COSM904772 c.475C>A p.L159I Substitution - Missense 1:226885656-226885656 + HCT15 COSM1961928 c.26G>A p.S9N Substitution - Missense 1:226881933-226881933 + SNUH_G73_S1 COSM4415168 c.129C>T p.N43N Substitution - coding silent 1:226882036-226882036 + LUAD-S01478 COSM399870 c.1346G>C p.*449S Nonstop extension 1:226895578-226895578 + TCGA-18-3416-01 COSM679334 c.1063G>A p.E355K Substitution - Missense 1:226891835-226891835 + DLD1 COSM4622553 c.223C>A p.L75M Substitution - Missense 1:226883786-226883786 + OSCC-GB_00370111 COSM3710617 c.184C>A p.R62S Substitution - Missense 1:226883747-226883747 + TCGA-CZ-5469-01 COSM464048 c.448G>T p.V150L Substitution - Missense 1:226885629-226885629 + HCC54 COSM1601731 c.921G>T p.L307L Substitution - coding silent 1:226891312-226891312 + YUGAFFE COSM1689922 c.773C>T p.A258V Substitution - Missense 1:226889035-226889035 + TCGA-BG-A18B-01 COSM904781 c.1263G>A p.T421T Substitution - coding silent 1:226895495-226895495 + TCGA-AA-A010-01 COSM284320 c.300C>T p.I100I Substitution - coding silent 1:226883863-226883863 + TCGA-A6-6780-01 COSM904781 c.1263G>A p.T421T Substitution - coding silent 1:226895495-226895495 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.25363 1q31-q42 600759 2442862|CGAP|BC006365|C/T|non-coding||2237|Validated; 2442863|CGAP|BC006365|C/T|non-coding||300|Candidate; 2442866|CGAP|BC006365|C/T|coding|His87His|881|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E33G c.98A>G 1 227069706 BRCA A G Missense p.I368V c.1102A>G 1 227081737 STAD A G Missense p.K271E c.811A>G 1 227077759 BRCA - CA Frameshift p.L91Hfs*10 c.271_272insAC 1 227071534 LUAD C A Missense p.P248Q c.743C>A 1 227076706 RCCC C A Missense p.Q229K c.685C>A 1 227076648 LUAD C G Missense p.S138C c.413C>G 1 227073295 UCEC C T IntronicSNV . c.1-1277C>T 1 227068332 CM C T Missense p.A252V c.755C>T 1 227076718 BRCA C T Missense p.A258V c.773C>T 1 227076736 CM C T Missense p.P337L c.1010C>T 1 227079483 LUSC C T Missense p.S443F c.1328C>T 1 227083261 CM C T Synonymous p.A45A c.135C>T 1 227069743 CM C T Synonymous p.L119L c.357C>T 1 227073239 LUAD C T Synonymous p.L264L c.792C>T 1 227077740 COREAD C T Synonymous p.L405L c.1213C>T 1 227083146 UCEC C T Synonymous p.L97L c.289C>T 1 227071553 CM C T Synonymous p.S19S c.57C>T 1 227069665 CM C T Synonymous p.Y319Y c.957C>T 1 227079049 STAD G A Missense p.C65Y c.194G>A 1 227071458 MM G A Missense p.E355K c.1063G>A 1 227079536 LUSC G A Missense p.G215S c.643G>A 1 227076606 RCCC G A Missense p.R110H c.329G>A 1 227071593 ESCA G A Missense p.V148I c.442G>A 1 227073324 MB G A Synonymous p.A85A c.255G>A 1 227071519 BLCA G A Synonymous p.S22S c.66G>A 1 227069674 HNSC G C Missense p.S382T c.1145G>C 1 227081780 UCEC G - Frameshift p.G381Afs*21 c.1142delG 1 227081775 LUAD G T Missense p.V150L c.448G>T 1 227073330 RCCC T C Missense p.V95A c.284T>C 1 227071548 LUSC T C SpliceDonorSNV . c.566+2T>C 1 227075861 STAD