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 16 2025627 2025627 + Silent SNP A A G TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr16:2025627A>G c.903A>G c.(901-903)gcA>gcG p.A301A BLCA 16 2024268 2024268 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr16:2024268G>A c.164G>A c.(163-165)gGg>gAg p.G55E BLCA 16 2025614 2025614 + Missense_Mutation SNP A A C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 g.chr16:2025614A>C c.890A>C c.(889-891)cAc>cCc p.H297P BLCA 16 2026926 2026926 + Silent SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr16:2026926C>T c.1404C>T c.(1402-1404)ctC>ctT p.L468L BLCA 16 2027238 2027238 + Missense_Mutation SNP G G C TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr16:2027238G>C c.1624G>C c.(1624-1626)Gat>Cat p.D542H BLCA 16 2028430 2028430 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr16:2028430G>A c.2251G>A c.(2251-2253)Gaa>Aaa p.E751K BLCA 16 2028584 2028584 + Silent SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr16:2028584C>G c.2325C>G c.(2323-2325)ctC>ctG p.L775L BRCA 16 2024405 2024405 + Missense_Mutation SNP A A G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 g.chr16:2024405A>G c.218A>G c.(217-219)gAc>gGc p.D73G BRCA 16 2025431 2025431 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr16:2025431G>C c.797G>C c.(796-798)gGc>gCc p.G266A BRCA 16 2027601 2027601 + Missense_Mutation SNP G G A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 g.chr16:2027601G>A c.1829G>A c.(1828-1830)gGg>gAg p.G610E CESC 16 2024380 2024380 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr16:2024380G>A c.193G>A c.(193-195)Gac>Aac p.D65N CESC 16 2027624 2027624 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 g.chr16:2027624G>C c.1852G>C c.(1852-1854)Gac>Cac p.D618H CESC 16 2027758 2027758 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr16:2027758G>C c.1915G>C c.(1915-1917)Gag>Cag p.E639Q COAD 16 2024786 2024786 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:2024786C>T c.402C>T c.(400-402)cgC>cgT p.R134R COAD 16 2026250 2026250 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:2026250C>T c.1227C>T c.(1225-1227)ggC>ggT p.G409G COAD 16 2026262 2026262 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr16:2026262C>T c.1239C>T c.(1237-1239)tgC>tgT p.C413C COADREAD 16 2024786 2024786 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:2024786C>T c.402C>T c.(400-402)cgC>cgT p.R134R COADREAD 16 2025189 2025189 + Splice_Site SNP T T C TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr16:2025189T>C c.637T>C c.(637-639)Tcc>Ccc p.S213P COADREAD 16 2026250 2026250 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:2026250C>T c.1227C>T c.(1225-1227)ggC>ggT p.G409G COADREAD 16 2026262 2026262 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr16:2026262C>T c.1239C>T c.(1237-1239)tgC>tgT p.C413C DLBC 16 2028220 2028220 + Splice_Site SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr16:2028220A>G c.2133A>G c.(2131-2133)aaA>aaG p.K711K ESCA 16 2024421 2024421 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chr16:2024421C>T c.234C>T c.(232-234)aaC>aaT p.N78N ESCA 16 2024606 2024606 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr16:2024606G>A c.305G>A c.(304-306)cGc>cAc p.R102H ESCA 16 2025698 2025698 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr16:2025698G>A c.974G>A c.(973-975)cGg>cAg p.R325Q GBM 16 2025082 2025082 + Silent SNP C C T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr16:2025082C>T c.618C>T c.(616-618)gaC>gaT p.D206D GBMLGG 16 2024560 2024560 + Missense_Mutation SNP G G C TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr16:2024560G>C c.259G>C c.(259-261)Gca>Cca p.A87P GBMLGG 16 2025082 2025082 + Silent SNP C C T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr16:2025082C>T c.618C>T c.(616-618)gaC>gaT p.D206D GBMLGG 16 2026095 2026095 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2026095C>T c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F GBMLGG 16 2027420 2027420 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2027420C>A c.1735C>A c.(1735-1737)Ctg>Atg p.L579M HNSC 16 2024602 2024602 + Missense_Mutation SNP A A C TCGA-CR-7380-01A-11D-2012-08 TCGA-CR-7380-10A-01D-2013-08 g.chr16:2024602A>C c.301A>C c.(301-303)Acc>Ccc p.T101P HNSC 16 2025058 2025058 + Silent SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr16:2025058C>T c.594C>T c.(592-594)gtC>gtT p.V198V HNSC 16 2025598 2025598 + Missense_Mutation SNP G G C TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr16:2025598G>C c.874G>C c.(874-876)Ggg>Cgg p.G292R HNSC 16 2025848 2025848 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr16:2025848C>T c.1027C>T c.(1027-1029)Ctt>Ttt p.L343F KICH 16 2026870 2026870 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr16:2026870C>T c.1348C>T c.(1348-1350)Cct>Tct p.P450S KIPAN 16 2026055 2026055 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr16:2026055A>G c.e12-1 KIPAN 16 2026870 2026870 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr16:2026870C>T c.1348C>T c.(1348-1350)Cct>Tct p.P450S KIRC 16 2026055 2026055 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr16:2026055A>G c.e12-1 LGG 16 2024560 2024560 + Missense_Mutation SNP G G C TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr16:2024560G>C c.259G>C c.(259-261)Gca>Cca p.A87P LGG 16 2026095 2026095 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2026095C>T c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F LGG 16 2027420 2027420 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2027420C>A c.1735C>A c.(1735-1737)Ctg>Atg p.L579M LIHC 16 2024958 2024958 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr16:2024958G>T c.494G>T c.(493-495)cGc>cTc p.R165L LIHC 16 2025894 2025894 + Missense_Mutation SNP G G T TCGA-WX-AA46-01A-11D-A38X-10 TCGA-WX-AA46-10A-01D-A38X-10 g.chr16:2025894G>T c.1073G>T c.(1072-1074)tGc>tTc p.C358F LIHC 16 2025898 2025898 + Silent SNP A A G TCGA-WX-AA46-01A-11D-A38X-10 TCGA-WX-AA46-10A-01D-A38X-10 g.chr16:2025898A>G c.1077A>G c.(1075-1077)ctA>ctG p.L359L LIHC 16 2026270 2026270 + Missense_Mutation SNP A A T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr16:2026270A>T c.1247A>T c.(1246-1248)cAg>cTg p.Q416L LIHC 16 2026901 2026901 + Missense_Mutation SNP C C T TCGA-DD-A4NF-01A-11D-A27I-10 TCGA-DD-A4NF-10A-01D-A27I-10 g.chr16:2026901C>T c.1379C>T c.(1378-1380)aCa>aTa p.T460I LIHC 16 2026919 2026919 + Missense_Mutation SNP C C T TCGA-G3-AAV4-01A-11D-A382-10 TCGA-G3-AAV4-10A-01D-A385-10 g.chr16:2026919C>T c.1397C>T c.(1396-1398)cCt>cTt p.P466L LIHC 16 2027159 2027159 + Silent SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr16:2027159T>C c.1545T>C c.(1543-1545)ggT>ggC p.G515G LUAD 16 2024386 2024386 + Nonsense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr16:2024386G>T c.199G>T c.(199-201)Gag>Tag p.E67* LUAD 16 2025196 2025196 + Missense_Mutation SNP G G A TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 g.chr16:2025196G>A c.644G>A c.(643-645)cGt>cAt p.R215H LUAD 16 2025241 2025241 + Missense_Mutation SNP C C T TCGA-78-8660-01A-11D-2393-08 TCGA-78-8660-10A-01D-2393-08 g.chr16:2025241C>T c.689C>T c.(688-690)aCg>aTg p.T230M LUAD 16 2025660 2025660 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 g.chr16:2025660C>T c.936C>T c.(934-936)gcC>gcT p.A312A LUAD 16 2025882 2025882 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr16:2025882C>T c.1061C>T c.(1060-1062)tCc>tTc p.S354F LUAD 16 2026110 2026110 + Missense_Mutation SNP G G A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr16:2026110G>A c.1183G>A c.(1183-1185)Gcc>Acc p.A395T LUAD 16 2026955 2026955 + Missense_Mutation SNP A A T TCGA-93-A4JP-01A-11D-A24P-08 TCGA-93-A4JP-10A-01D-A24P-08 g.chr16:2026955A>T c.1433A>T c.(1432-1434)cAt>cTt p.H478L LUSC 16 2024958 2024958 + Missense_Mutation SNP G G A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 g.chr16:2024958G>A c.494G>A c.(493-495)cGc>cAc p.R165H LUSC 16 2026220 2026220 + Missense_Mutation SNP C C A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr16:2026220C>A c.1197C>A c.(1195-1197)agC>agA p.S399R PAAD 16 2024605 2024605 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr16:2024605C>T c.304C>T c.(304-306)Cgc>Tgc p.R102C PAAD 16 2024811 2024811 + Missense_Mutation SNP G G A TCGA-IB-A7M4-01A-11D-A36O-08 TCGA-IB-A7M4-10A-01D-A367-08 g.chr16:2024811G>A c.427G>A c.(427-429)Ggg>Agg p.G143R PRAD 16 2025082 2025082 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr16:2025082C>T c.618C>T c.(616-618)gaC>gaT p.D206D READ 16 2025189 2025189 + Splice_Site SNP T T C TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr16:2025189T>C c.637T>C c.(637-639)Tcc>Ccc p.S213P SARC 16 2026921 2026921 + Missense_Mutation SNP A A T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 g.chr16:2026921A>T c.1399A>T c.(1399-1401)Atc>Ttc p.I467F SARC 16 2027654 2027654 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr16:2027654C>T c.1882C>T c.(1882-1884)Cga>Tga p.R628* SKCM 16 2024083 2024083 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:2024083C>T c.68C>T c.(67-69)cCt>cTt p.P23L SKCM 16 2024953 2024953 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr16:2024953T>C c.489T>C c.(487-489)ccT>ccC p.P163P SKCM 16 2024990 2024990 + Missense_Mutation SNP G G C TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr16:2024990G>C c.526G>C c.(526-528)Gcc>Ccc p.A176P SKCM 16 2025406 2025406 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr16:2025406C>T c.772C>T c.(772-774)Cca>Tca p.P258S SKCM 16 2025407 2025407 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr16:2025407C>T c.773C>T c.(772-774)cCa>cTa p.P258L SKCM 16 2025692 2025692 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:2025692C>T c.968C>T c.(967-969)tCc>tTc p.S323F SKCM 16 2025693 2025693 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr16:2025693C>T c.969C>T c.(967-969)tcC>tcT p.S323S SKCM 16 2025694 2025694 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr16:2025694C>T c.970C>T c.(970-972)Ctg>Ttg p.L324L SKCM 16 2025811 2025811 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr16:2025811C>T c.990C>T c.(988-990)ttC>ttT p.F330F SKCM 16 2026061 2026061 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:2026061C>T c.1134C>T c.(1132-1134)atC>atT p.I378I SKCM 16 2027060 2027060 + Silent SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr16:2027060C>T c.1446C>T c.(1444-1446)atC>atT p.I482I SKCM 16 2027165 2027165 + Silent SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr16:2027165C>T c.1551C>T c.(1549-1551)ttC>ttT p.F517F SKCM 16 2028154 2028154 + Silent SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr16:2028154C>T c.2067C>T c.(2065-2067)atC>atT p.I689I SKCM 16 2028358 2028358 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr16:2028358C>T c.2179C>T c.(2179-2181)Cac>Tac p.H727Y SKCM 16 2028377 2028377 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr16:2028377C>T c.2198C>T c.(2197-2199)gCc>gTc p.A733V SKCM 16 2028390 2028390 + Silent SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 g.chr16:2028390G>T c.2211G>T c.(2209-2211)gtG>gtT p.V737V

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 16 2024268 2024268 single base substitution G A exon_variant BLCA-US 16 2024268 2024268 single base substitution G A missense_variant G55E 164G>A BLCA-US 16 2024268 2024268 single base substitution G A upstream_gene_variant BLCA-US 16 2029284 2029284 single base substitution C G 3_prime_UTR_variant BLCA-US 16 2029284 2029284 single base substitution C G downstream_gene_variant BLCA-US 16 2029448 2029448 single base substitution C G 3_prime_UTR_variant BLCA-US 16 2029448 2029448 single base substitution C G downstream_gene_variant BLCA-US 16 2029466 2029466 single base substitution G T 3_prime_UTR_variant BLCA-US 16 2029466 2029466 single base substitution G T downstream_gene_variant BRCA-EU 16 2018413 2018413 single base substitution A G upstream_gene_variant BRCA-EU 16 2019354 2019354 single base substitution C T upstream_gene_variant BRCA-EU 16 2019796 2019796 single base substitution C T upstream_gene_variant BRCA-EU 16 2020672 2020672 single base substitution T A upstream_gene_variant BRCA-EU 16 2021662 2021662 single base substitution G C upstream_gene_variant BRCA-EU 16 2024252 2024252 single base substitution C G exon_variant BRCA-EU 16 2024252 2024252 single base substitution C G missense_variant L50V 148C>G BRCA-EU 16 2024252 2024252 single base substitution C G upstream_gene_variant BRCA-EU 16 2024366 2024366 single base substitution C A intron_variant BRCA-EU 16 2024366 2024366 single base substitution C A upstream_gene_variant BRCA-EU 16 2025222 2025222 single base substitution C T downstream_gene_variant BRCA-EU 16 2025222 2025222 single base substitution C T exon_variant BRCA-EU 16 2025222 2025222 single base substitution C T missense_variant L131F 391C>T BRCA-EU 16 2025222 2025222 single base substitution C T missense_variant L224F 670C>T BRCA-EU 16 2025222 2025222 single base substitution C T upstream_gene_variant BRCA-EU 16 2026656 2026656 single base substitution C T downstream_gene_variant BRCA-EU 16 2026656 2026656 single base substitution C T intron_variant BRCA-EU 16 2026656 2026656 single base substitution C T upstream_gene_variant BRCA-EU 16 2030494 2030494 single base substitution A G 3_prime_UTR_variant BRCA-EU 16 2030494 2030494 single base substitution A G downstream_gene_variant BRCA-EU 16 2032758 2032758 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 2032758 2032758 single base substitution C T downstream_gene_variant BRCA-EU 16 2033168 2033168 single base substitution G C downstream_gene_variant BRCA-EU 16 2033323 2033323 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 2033424 2033424 single base substitution G C downstream_gene_variant BRCA-EU 16 2033718 2033718 single base substitution G A downstream_gene_variant BRCA-EU 16 2036945 2036945 single base substitution G T downstream_gene_variant BRCA-EU 16 2037733 2037735 deletion of <=200bp CTT - downstream_gene_variant BRCA-FR 16 2017469 2017469 single base substitution G T upstream_gene_variant BRCA-FR 16 2021662 2021662 single base substitution G C upstream_gene_variant BRCA-UK 16 2019796 2019796 single base substitution C T upstream_gene_variant BRCA-UK 16 2023227 2023227 single base substitution G C intron_variant BRCA-UK 16 2023227 2023227 single base substitution G C upstream_gene_variant BRCA-US 16 2024405 2024405 single base substitution A G exon_variant BRCA-US 16 2024405 2024405 single base substitution A G missense_variant D73G 218A>G BRCA-US 16 2024405 2024405 single base substitution A G upstream_gene_variant BRCA-US 16 2025431 2025431 single base substitution G C downstream_gene_variant BRCA-US 16 2025431 2025431 single base substitution G C exon_variant BRCA-US 16 2025431 2025431 single base substitution G C missense_variant G173A 518G>C BRCA-US 16 2025431 2025431 single base substitution G C missense_variant G266A 797G>C BRCA-US 16 2025431 2025431 single base substitution G C upstream_gene_variant BRCA-US 16 2027601 2027601 single base substitution G A downstream_gene_variant BRCA-US 16 2027601 2027601 single base substitution G A exon_variant BRCA-US 16 2027601 2027601 single base substitution G A missense_variant G498E 1493G>A BRCA-US 16 2027601 2027601 single base substitution G A missense_variant G610E 1829G>A BRCA-US 16 2029831 2029831 single base substitution C T 3_prime_UTR_variant BRCA-US 16 2029831 2029831 single base substitution C T downstream_gene_variant BRCA-US 16 2029885 2029885 single base substitution G A 3_prime_UTR_variant BRCA-US 16 2029885 2029885 single base substitution G A downstream_gene_variant BRCA-US 16 2030976 2030976 single base substitution G A 3_prime_UTR_variant BRCA-US 16 2030976 2030976 single base substitution G A downstream_gene_variant BTCA-JP 16 2017903 2017903 single base substitution G A upstream_gene_variant BTCA-JP 16 2018616 2018616 single base substitution C A upstream_gene_variant BTCA-JP 16 2028513 2028513 single base substitution G A downstream_gene_variant BTCA-JP 16 2028513 2028513 single base substitution G A intron_variant BTCA-JP 16 2030084 2030084 single base substitution T C 3_prime_UTR_variant BTCA-JP 16 2030084 2030084 single base substitution T C downstream_gene_variant CESC-US 16 2017754 2017754 single base substitution G C upstream_gene_variant CESC-US 16 2018792 2018792 single base substitution G A upstream_gene_variant CESC-US 16 2024380 2024380 single base substitution G A exon_variant CESC-US 16 2024380 2024380 single base substitution G A missense_variant D65N 193G>A CESC-US 16 2024380 2024380 single base substitution G A upstream_gene_variant CESC-US 16 2027624 2027624 single base substitution G C downstream_gene_variant CESC-US 16 2027624 2027624 single base substitution G C exon_variant CESC-US 16 2027624 2027624 single base substitution G C missense_variant D506H 1516G>C CESC-US 16 2027624 2027624 single base substitution G C missense_variant D618H 1852G>C CESC-US 16 2027758 2027758 single base substitution G C downstream_gene_variant CESC-US 16 2027758 2027758 single base substitution G C exon_variant CESC-US 16 2027758 2027758 single base substitution G C missense_variant E527Q 1579G>C CESC-US 16 2027758 2027758 single base substitution G C missense_variant E639Q 1915G>C CESC-US 16 2029514 2029514 single base substitution C T 3_prime_UTR_variant CESC-US 16 2029514 2029514 single base substitution C T downstream_gene_variant CLLE-ES 16 2019658 2019658 single base substitution G A upstream_gene_variant COAD-US 16 2018555 2018555 single base substitution C A upstream_gene_variant COAD-US 16 2018580 2018580 single base substitution G A upstream_gene_variant COAD-US 16 2018715 2018715 single base substitution G A upstream_gene_variant COAD-US 16 2018823 2018823 single base substitution C A upstream_gene_variant COAD-US 16 2018825 2018825 single base substitution C A upstream_gene_variant COAD-US 16 2024786 2024786 single base substitution C T 3_prime_UTR_variant COAD-US 16 2024786 2024786 single base substitution C T exon_variant COAD-US 16 2024786 2024786 single base substitution C T synonymous_variant R134R 402C>T COAD-US 16 2024786 2024786 single base substitution C T synonymous_variant R41R 123C>T COAD-US 16 2024786 2024786 single base substitution C T upstream_gene_variant COAD-US 16 2025206 2025206 single base substitution A C downstream_gene_variant COAD-US 16 2025206 2025206 single base substitution A C exon_variant COAD-US 16 2025206 2025206 single base substitution A C synonymous_variant I125I 375A>C COAD-US 16 2025206 2025206 single base substitution A C synonymous_variant I218I 654A>C COAD-US 16 2025206 2025206 single base substitution A C upstream_gene_variant COAD-US 16 2025587 2025587 single base substitution C T downstream_gene_variant COAD-US 16 2025587 2025587 single base substitution C T exon_variant COAD-US 16 2025587 2025587 single base substitution C T missense_variant P195L 584C>T COAD-US 16 2025587 2025587 single base substitution C T missense_variant P288L 863C>T COAD-US 16 2025587 2025587 single base substitution C T upstream_gene_variant COAD-US 16 2025604 2025604 single base substitution G C downstream_gene_variant COAD-US 16 2025604 2025604 single base substitution G C exon_variant COAD-US 16 2025604 2025604 single base substitution G C missense_variant E201Q 601G>C COAD-US 16 2025604 2025604 single base substitution G C missense_variant E294Q 880G>C COAD-US 16 2025604 2025604 single base substitution G C upstream_gene_variant COAD-US 16 2025678 2025678 single base substitution C A downstream_gene_variant COAD-US 16 2025678 2025678 single base substitution C A exon_variant COAD-US 16 2025678 2025678 single base substitution C A synonymous_variant L225L 675C>A COAD-US 16 2025678 2025678 single base substitution C A synonymous_variant L318L 954C>A COAD-US 16 2025678 2025678 single base substitution C A upstream_gene_variant COAD-US 16 2026250 2026250 single base substitution C T downstream_gene_variant COAD-US 16 2026250 2026250 single base substitution C T exon_variant COAD-US 16 2026250 2026250 single base substitution C T synonymous_variant G316G 948C>T COAD-US 16 2026250 2026250 single base substitution C T synonymous_variant G409G 1227C>T COAD-US 16 2026250 2026250 single base substitution C T upstream_gene_variant COAD-US 16 2026262 2026262 single base substitution C T downstream_gene_variant COAD-US 16 2026262 2026262 single base substitution C T exon_variant COAD-US 16 2026262 2026262 single base substitution C T splice_region_variant COAD-US 16 2026262 2026262 single base substitution C T synonymous_variant C413C 1239C>T COAD-US 16 2026262 2026262 single base substitution C T upstream_gene_variant COAD-US 16 2027139 2027139 single base substitution C T downstream_gene_variant COAD-US 16 2027139 2027139 single base substitution C T exon_variant COAD-US 16 2027139 2027139 single base substitution C T missense_variant P397S 1189C>T COAD-US 16 2027139 2027139 single base substitution C T missense_variant P509S 1525C>T COAD-US 16 2027584 2027584 single base substitution C T downstream_gene_variant COAD-US 16 2027584 2027584 single base substitution C T exon_variant COAD-US 16 2027584 2027584 single base substitution C T synonymous_variant H492H 1476C>T COAD-US 16 2027584 2027584 single base substitution C T synonymous_variant H604H 1812C>T COAD-US 16 2028402 2028402 single base substitution A C downstream_gene_variant COAD-US 16 2028402 2028402 single base substitution A C exon_variant COAD-US 16 2028402 2028402 single base substitution A C synonymous_variant R629R 1887A>C COAD-US 16 2028402 2028402 single base substitution A C synonymous_variant R741R 2223A>C COAD-US 16 2030115 2030116 deletion of <=200bp TG - 3_prime_UTR_variant COAD-US 16 2030115 2030116 deletion of <=200bp TG - downstream_gene_variant COAD-US 16 2030127 2030127 single base substitution G A 3_prime_UTR_variant COAD-US 16 2030127 2030127 single base substitution G A downstream_gene_variant COAD-US 16 2030700 2030700 single base substitution C T 3_prime_UTR_variant COAD-US 16 2030700 2030700 single base substitution C T downstream_gene_variant COAD-US 16 2030702 2030702 single base substitution C T 3_prime_UTR_variant COAD-US 16 2030702 2030702 single base substitution C T downstream_gene_variant COCA-CN 16 2017783 2017783 single base substitution G T upstream_gene_variant COCA-CN 16 2018329 2018329 single base substitution C T upstream_gene_variant COCA-CN 16 2018748 2018748 single base substitution G T upstream_gene_variant COCA-CN 16 2019427 2019427 single base substitution A G upstream_gene_variant COCA-CN 16 2024471 2024471 single base substitution C A intron_variant COCA-CN 16 2024471 2024471 single base substitution C A upstream_gene_variant COCA-CN 16 2024709 2024709 single base substitution G A intron_variant COCA-CN 16 2024709 2024709 single base substitution G A upstream_gene_variant COCA-CN 16 2025698 2025698 single base substitution G A downstream_gene_variant COCA-CN 16 2025698 2025698 single base substitution G A exon_variant COCA-CN 16 2025698 2025698 single base substitution G A missense_variant R232Q 695G>A COCA-CN 16 2025698 2025698 single base substitution G A missense_variant R325Q 974G>A COCA-CN 16 2025698 2025698 single base substitution G A upstream_gene_variant COCA-CN 16 2027521 2027521 single base substitution G A downstream_gene_variant COCA-CN 16 2027521 2027521 single base substitution G A exon_variant COCA-CN 16 2027521 2027521 single base substitution G A synonymous_variant S471S 1413G>A COCA-CN 16 2027521 2027521 single base substitution G A synonymous_variant S583S 1749G>A COCA-CN 16 2030802 2030802 single base substitution A G 3_prime_UTR_variant COCA-CN 16 2030802 2030802 single base substitution A G downstream_gene_variant EOPC-DE 16 2017142 2017142 single base substitution G A upstream_gene_variant ESAD-UK 16 2020617 2020617 insertion of <=200bp - G upstream_gene_variant ESAD-UK 16 2023791 2023791 single base substitution G T intron_variant ESAD-UK 16 2023791 2023791 single base substitution G T upstream_gene_variant ESAD-UK 16 2023797 2023797 single base substitution C G intron_variant ESAD-UK 16 2023797 2023797 single base substitution C G upstream_gene_variant ESAD-UK 16 2028856 2028856 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 2028856 2028856 single base substitution C T downstream_gene_variant ESAD-UK 16 2030382 2030382 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 2030382 2030382 single base substitution C T downstream_gene_variant ESAD-UK 16 2031235 2031235 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 2031235 2031235 single base substitution C T downstream_gene_variant ESAD-UK 16 2032113 2032113 single base substitution C G 3_prime_UTR_variant ESAD-UK 16 2032113 2032113 single base substitution C G downstream_gene_variant ESAD-UK 16 2033514 2033514 single base substitution C T downstream_gene_variant ESCA-CN 16 2018792 2018792 single base substitution G A upstream_gene_variant ESCA-CN 16 2024609 2024609 single base substitution T A 3_prime_UTR_variant ESCA-CN 16 2024609 2024609 single base substitution T A exon_variant ESCA-CN 16 2024609 2024609 single base substitution T A missense_variant L103Q 308T>A ESCA-CN 16 2024609 2024609 single base substitution T A missense_variant L10Q 29T>A ESCA-CN 16 2024609 2024609 single base substitution T A upstream_gene_variant ESCA-CN 16 2024779 2024779 single base substitution C T 3_prime_UTR_variant ESCA-CN 16 2024779 2024779 single base substitution C T exon_variant ESCA-CN 16 2024779 2024779 single base substitution C T missense_variant A132V 395C>T ESCA-CN 16 2024779 2024779 single base substitution C T missense_variant A39V 116C>T ESCA-CN 16 2024779 2024779 single base substitution C T upstream_gene_variant GBM-US 16 2018613 2018613 insertion of <=200bp - C upstream_gene_variant GBM-US 16 2025082 2025082 single base substitution C T downstream_gene_variant GBM-US 16 2025082 2025082 single base substitution C T exon_variant GBM-US 16 2025082 2025082 single base substitution C T synonymous_variant D113D 339C>T GBM-US 16 2025082 2025082 single base substitution C T synonymous_variant D206D 618C>T GBM-US 16 2025082 2025082 single base substitution C T upstream_gene_variant KIRC-US 16 2018623 2018623 single base substitution C A upstream_gene_variant KIRC-US 16 2031172 2031172 insertion of <=200bp - C 3_prime_UTR_variant KIRC-US 16 2031172 2031172 insertion of <=200bp - C downstream_gene_variant KIRC-US 16 2035868 2035868 single base substitution C T downstream_gene_variant KIRP-US 16 2035934 2035934 single base substitution A C downstream_gene_variant KIRP-US 16 2035967 2035967 single base substitution T A downstream_gene_variant LAML-KR 16 2019550 2019550 single base substitution T C upstream_gene_variant LAML-KR 16 2019666 2019666 single base substitution G T upstream_gene_variant LAML-KR 16 2024131 2024131 single base substitution T C exon_variant LAML-KR 16 2024131 2024131 single base substitution T C intron_variant LAML-KR 16 2024131 2024131 single base substitution T C upstream_gene_variant LAML-KR 16 2036142 2036142 single base substitution C G downstream_gene_variant LGG-US 16 2018730 2018730 deletion of <=200bp C - upstream_gene_variant LICA-CN 16 2031142 2031142 single base substitution T A 3_prime_UTR_variant LICA-CN 16 2031142 2031142 single base substitution T A downstream_gene_variant LICA-FR 16 2018632 2018632 single base substitution C T upstream_gene_variant LICA-FR 16 2021880 2021880 single base substitution T G upstream_gene_variant LICA-FR 16 2022049 2022049 single base substitution C T 5_prime_UTR_variant LICA-FR 16 2022049 2022049 single base substitution C T upstream_gene_variant LICA-FR 16 2024545 2024545 single base substitution G A 3_prime_UTR_variant LICA-FR 16 2024545 2024545 single base substitution G A exon_variant LICA-FR 16 2024545 2024545 single base substitution G A missense_variant V82M 244G>A LICA-FR 16 2024545 2024545 single base substitution G A upstream_gene_variant LICA-FR 16 2026824 2026824 single base substitution G C downstream_gene_variant LICA-FR 16 2026824 2026824 single base substitution G C exon_variant LICA-FR 16 2026824 2026824 single base substitution G C missense_variant E322D 966G>C LICA-FR 16 2026824 2026824 single base substitution G C missense_variant E434D 1302G>C LICA-FR 16 2026824 2026824 single base substitution G C upstream_gene_variant LICA-FR 16 2028613 2028613 single base substitution G T downstream_gene_variant LICA-FR 16 2028613 2028613 single base substitution G T exon_variant LICA-FR 16 2028613 2028613 single base substitution G T missense_variant W673L 2018G>T LICA-FR 16 2028613 2028613 single base substitution G T missense_variant W785L 2354G>T LICA-FR 16 2034230 2034230 single base substitution C T downstream_gene_variant LICA-FR 16 2035917 2035917 single base substitution G A downstream_gene_variant LIHC-US 16 2026270 2026270 single base substitution A T downstream_gene_variant LIHC-US 16 2026270 2026270 single base substitution A T exon_variant LIHC-US 16 2026270 2026270 single base substitution A T intron_variant LIHC-US 16 2026270 2026270 single base substitution A T missense_variant Q416L 1247A>T LIHC-US 16 2026270 2026270 single base substitution A T upstream_gene_variant LIHC-US 16 2026901 2026901 single base substitution C T downstream_gene_variant LIHC-US 16 2026901 2026901 single base substitution C T exon_variant LIHC-US 16 2026901 2026901 single base substitution C T missense_variant T348I 1043C>T LIHC-US 16 2026901 2026901 single base substitution C T missense_variant T460I 1379C>T LIHC-US 16 2026901 2026901 single base substitution C T upstream_gene_variant LIHC-US 16 2027783 2027783 single base substitution A G downstream_gene_variant LIHC-US 16 2027783 2027783 single base substitution A G exon_variant LIHC-US 16 2027783 2027783 single base substitution A G missense_variant Q535R 1604A>G LIHC-US 16 2027783 2027783 single base substitution A G missense_variant Q647R 1940A>G LINC-JP 16 2017142 2017142 single base substitution G A upstream_gene_variant LINC-JP 16 2021228 2021228 single base substitution C T upstream_gene_variant LINC-JP 16 2024921 2024921 single base substitution G T downstream_gene_variant LINC-JP 16 2024921 2024921 single base substitution G T splice_region_variant LINC-JP 16 2024921 2024921 single base substitution G T upstream_gene_variant LINC-JP 16 2025640 2025640 single base substitution G T downstream_gene_variant LINC-JP 16 2025640 2025640 single base substitution G T exon_variant LINC-JP 16 2025640 2025640 single base substitution G T missense_variant V213L 637G>T LINC-JP 16 2025640 2025640 single base substitution G T missense_variant V306L 916G>T LINC-JP 16 2025640 2025640 single base substitution G T upstream_gene_variant LINC-JP 16 2026184 2026184 single base substitution G T downstream_gene_variant LINC-JP 16 2026184 2026184 single base substitution G T intron_variant LINC-JP 16 2026184 2026184 single base substitution G T upstream_gene_variant LINC-JP 16 2026985 2026985 single base substitution G A downstream_gene_variant LINC-JP 16 2026985 2026985 single base substitution G A intron_variant LINC-JP 16 2026985 2026985 single base substitution G A upstream_gene_variant LINC-JP 16 2028078 2028078 insertion of <=200bp - G downstream_gene_variant LINC-JP 16 2028078 2028078 insertion of <=200bp - G intron_variant LINC-JP 16 2028440 2028440 single base substitution G A downstream_gene_variant LINC-JP 16 2028440 2028440 single base substitution G A exon_variant LINC-JP 16 2028440 2028440 single base substitution G A missense_variant R642Q 1925G>A LINC-JP 16 2028440 2028440 single base substitution G A missense_variant R754Q 2261G>A LINC-JP 16 2028671 2028671 single base substitution A G downstream_gene_variant LINC-JP 16 2028671 2028671 single base substitution A G exon_variant LINC-JP 16 2028671 2028671 single base substitution A G synonymous_variant K692K 2076A>G LINC-JP 16 2028671 2028671 single base substitution A G synonymous_variant K804K 2412A>G LIRI-JP 16 2022091 2022091 single base substitution G C 5_prime_UTR_variant LIRI-JP 16 2022091 2022091 single base substitution G C exon_variant LIRI-JP 16 2022091 2022091 single base substitution G C upstream_gene_variant LIRI-JP 16 2026960 2026960 single base substitution A G downstream_gene_variant LIRI-JP 16 2026960 2026960 single base substitution A G missense_variant K368E 1102A>G LIRI-JP 16 2026960 2026960 single base substitution A G missense_variant K480E 1438A>G LIRI-JP 16 2026960 2026960 single base substitution A G splice_region_variant LIRI-JP 16 2026960 2026960 single base substitution A G upstream_gene_variant LIRI-JP 16 2028897 2028897 single base substitution C A 3_prime_UTR_variant LIRI-JP 16 2028897 2028897 single base substitution C A downstream_gene_variant LIRI-JP 16 2032487 2032487 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 2032487 2032487 single base substitution C T downstream_gene_variant LUSC-KR 16 2019569 2019569 single base substitution C T upstream_gene_variant LUSC-KR 16 2019795 2019795 single base substitution A G upstream_gene_variant LUSC-KR 16 2027743 2027743 single base substitution G T downstream_gene_variant LUSC-KR 16 2027743 2027743 single base substitution G T missense_variant D522Y 1564G>T LUSC-KR 16 2027743 2027743 single base substitution G T missense_variant D634Y 1900G>T LUSC-KR 16 2027743 2027743 single base substitution G T splice_region_variant LUSC-KR 16 2029834 2029834 single base substitution G T 3_prime_UTR_variant LUSC-KR 16 2029834 2029834 single base substitution G T downstream_gene_variant LUSC-US 16 2024958 2024958 single base substitution G A downstream_gene_variant LUSC-US 16 2024958 2024958 single base substitution G A exon_variant LUSC-US 16 2024958 2024958 single base substitution G A missense_variant R165H 494G>A LUSC-US 16 2024958 2024958 single base substitution G A missense_variant R72H 215G>A LUSC-US 16 2024958 2024958 single base substitution G A upstream_gene_variant LUSC-US 16 2026220 2026220 single base substitution C A downstream_gene_variant LUSC-US 16 2026220 2026220 single base substitution C A exon_variant LUSC-US 16 2026220 2026220 single base substitution C A missense_variant S306R 918C>A LUSC-US 16 2026220 2026220 single base substitution C A missense_variant S399R 1197C>A LUSC-US 16 2026220 2026220 single base substitution C A upstream_gene_variant LUSC-US 16 2035935 2035935 single base substitution A G downstream_gene_variant MALY-DE 16 2020551 2020552 deletion of <=200bp TG - upstream_gene_variant MALY-DE 16 2022099 2022099 single base substitution C T 5_prime_UTR_variant MALY-DE 16 2022099 2022099 single base substitution C T exon_variant MALY-DE 16 2022099 2022099 single base substitution C T upstream_gene_variant MALY-DE 16 2022252 2022252 single base substitution C G intron_variant MALY-DE 16 2022252 2022252 single base substitution C G upstream_gene_variant MALY-DE 16 2027323 2027323 single base substitution G A downstream_gene_variant MALY-DE 16 2027323 2027323 single base substitution G A exon_variant MALY-DE 16 2027323 2027323 single base substitution G A intron_variant MALY-DE 16 2031416 2031416 single base substitution G C 3_prime_UTR_variant MALY-DE 16 2031416 2031416 single base substitution G C downstream_gene_variant MELA-AU 16 2017073 2017073 single base substitution C T upstream_gene_variant MELA-AU 16 2017095 2017095 single base substitution C T upstream_gene_variant MELA-AU 16 2017298 2017298 single base substitution C T upstream_gene_variant MELA-AU 16 2018224 2018224 single base substitution C T upstream_gene_variant MELA-AU 16 2018381 2018381 single base substitution G A upstream_gene_variant MELA-AU 16 2018506 2018506 single base substitution C T upstream_gene_variant MELA-AU 16 2018730 2018731 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2018778 2018778 single base substitution G C upstream_gene_variant MELA-AU 16 2019718 2019718 single base substitution G A upstream_gene_variant MELA-AU 16 2019829 2019829 single base substitution G A upstream_gene_variant MELA-AU 16 2021132 2021132 single base substitution G A upstream_gene_variant MELA-AU 16 2021472 2021472 single base substitution G A upstream_gene_variant MELA-AU 16 2021984 2021984 single base substitution G A upstream_gene_variant MELA-AU 16 2021995 2021995 single base substitution G A upstream_gene_variant MELA-AU 16 2022020 2022020 single base substitution G A upstream_gene_variant MELA-AU 16 2022394 2022394 single base substitution G A intron_variant MELA-AU 16 2022394 2022394 single base substitution G A upstream_gene_variant MELA-AU 16 2022587 2022587 single base substitution T C intron_variant MELA-AU 16 2022587 2022587 single base substitution T C upstream_gene_variant MELA-AU 16 2023065 2023065 single base substitution T G intron_variant MELA-AU 16 2023065 2023065 single base substitution T G upstream_gene_variant MELA-AU 16 2024030 2024030 single base substitution C T intron_variant MELA-AU 16 2024030 2024030 single base substitution C T upstream_gene_variant MELA-AU 16 2024159 2024159 single base substitution G T exon_variant MELA-AU 16 2024159 2024159 single base substitution G T intron_variant MELA-AU 16 2024159 2024159 single base substitution G T upstream_gene_variant MELA-AU 16 2025759 2025759 single base substitution C T downstream_gene_variant MELA-AU 16 2025759 2025759 single base substitution C T intron_variant MELA-AU 16 2025759 2025759 single base substitution C T upstream_gene_variant MELA-AU 16 2026200 2026200 single base substitution C T downstream_gene_variant MELA-AU 16 2026200 2026200 single base substitution C T intron_variant MELA-AU 16 2026200 2026200 single base substitution C T upstream_gene_variant MELA-AU 16 2026201 2026201 single base substitution C T downstream_gene_variant MELA-AU 16 2026201 2026201 single base substitution C T intron_variant MELA-AU 16 2026201 2026201 single base substitution C T upstream_gene_variant MELA-AU 16 2026662 2026662 single base substitution C T downstream_gene_variant MELA-AU 16 2026662 2026662 single base substitution C T intron_variant MELA-AU 16 2026662 2026662 single base substitution C T upstream_gene_variant MELA-AU 16 2026883 2026883 single base substitution C T downstream_gene_variant MELA-AU 16 2026883 2026883 single base substitution C T exon_variant MELA-AU 16 2026883 2026883 single base substitution C T missense_variant A342V 1025C>T MELA-AU 16 2026883 2026883 single base substitution C T missense_variant A454V 1361C>T MELA-AU 16 2026883 2026883 single base substitution C T upstream_gene_variant MELA-AU 16 2027494 2027494 single base substitution C T downstream_gene_variant MELA-AU 16 2027494 2027494 single base substitution C T exon_variant MELA-AU 16 2027494 2027494 single base substitution C T intron_variant MELA-AU 16 2027548 2027548 single base substitution C T downstream_gene_variant MELA-AU 16 2027548 2027548 single base substitution C T exon_variant MELA-AU 16 2027548 2027548 single base substitution C T synonymous_variant I480I 1440C>T MELA-AU 16 2027548 2027548 single base substitution C T synonymous_variant I592I 1776C>T MELA-AU 16 2027668 2027668 single base substitution G A downstream_gene_variant MELA-AU 16 2027668 2027668 single base substitution G A exon_variant MELA-AU 16 2027668 2027668 single base substitution G A stop_gained W520* 1560G>A MELA-AU 16 2027668 2027668 single base substitution G A stop_gained W632* 1896G>A MELA-AU 16 2028003 2028004 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 2028003 2028004 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 16 2028003 2028004 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant R556Q 1667GG>AA MELA-AU 16 2028003 2028004 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant R668Q 2003GG>AA MELA-AU 16 2028082 2028082 single base substitution G A downstream_gene_variant MELA-AU 16 2028082 2028082 single base substitution G A intron_variant MELA-AU 16 2028154 2028154 single base substitution C T downstream_gene_variant MELA-AU 16 2028154 2028154 single base substitution C T exon_variant MELA-AU 16 2028154 2028154 single base substitution C T synonymous_variant I577I 1731C>T MELA-AU 16 2028154 2028154 single base substitution C T synonymous_variant I689I 2067C>T MELA-AU 16 2028494 2028494 single base substitution T C downstream_gene_variant MELA-AU 16 2028494 2028494 single base substitution T C intron_variant MELA-AU 16 2028535 2028535 single base substitution C T downstream_gene_variant MELA-AU 16 2028535 2028535 single base substitution C T intron_variant MELA-AU 16 2029123 2029123 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2029123 2029123 single base substitution C T downstream_gene_variant MELA-AU 16 2029268 2029268 single base substitution G A 3_prime_UTR_variant MELA-AU 16 2029268 2029268 single base substitution G A downstream_gene_variant MELA-AU 16 2029386 2029387 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 16 2029386 2029387 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 2029660 2029660 single base substitution G A 3_prime_UTR_variant MELA-AU 16 2029660 2029660 single base substitution G A downstream_gene_variant MELA-AU 16 2029975 2029975 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2029975 2029975 single base substitution C T downstream_gene_variant MELA-AU 16 2030635 2030635 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2030635 2030635 single base substitution C T downstream_gene_variant MELA-AU 16 2031080 2031080 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2031080 2031080 single base substitution C T downstream_gene_variant MELA-AU 16 2031401 2031401 single base substitution G A 3_prime_UTR_variant MELA-AU 16 2031401 2031401 single base substitution G A downstream_gene_variant MELA-AU 16 2032698 2032698 single base substitution A G 3_prime_UTR_variant MELA-AU 16 2032698 2032698 single base substitution A G downstream_gene_variant MELA-AU 16 2033241 2033241 single base substitution C T downstream_gene_variant MELA-AU 16 2033460 2033460 single base substitution A G downstream_gene_variant MELA-AU 16 2033671 2033671 single base substitution G A downstream_gene_variant MELA-AU 16 2034717 2034717 single base substitution G A downstream_gene_variant MELA-AU 16 2034742 2034742 single base substitution C T downstream_gene_variant MELA-AU 16 2035857 2035857 single base substitution C T downstream_gene_variant MELA-AU 16 2035969 2035969 single base substitution C T downstream_gene_variant MELA-AU 16 2036548 2036548 single base substitution C T downstream_gene_variant MELA-AU 16 2036903 2036903 single base substitution C T downstream_gene_variant MELA-AU 16 2036956 2036957 multiple base substitution (>=2bp and <=200bp) CT TA downstream_gene_variant MELA-AU 16 2037273 2037273 single base substitution C T downstream_gene_variant MELA-AU 16 2037338 2037338 single base substitution C T downstream_gene_variant MELA-AU 16 2037668 2037669 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 16 2018740 2018740 single base substitution G T upstream_gene_variant ORCA-IN 16 2018766 2018766 single base substitution C G upstream_gene_variant ORCA-IN 16 2022174 2022174 single base substitution G T exon_variant ORCA-IN 16 2022174 2022174 single base substitution G T missense_variant E3D 9G>T ORCA-IN 16 2022174 2022174 single base substitution G T upstream_gene_variant ORCA-IN 16 2024071 2024071 single base substitution G A exon_variant ORCA-IN 16 2024071 2024071 single base substitution G A missense_variant R19H 56G>A ORCA-IN 16 2024071 2024071 single base substitution G A upstream_gene_variant OV-AU 16 2018548 2018548 single base substitution G C upstream_gene_variant OV-AU 16 2019107 2019107 single base substitution G A upstream_gene_variant OV-AU 16 2027624 2027624 single base substitution G A downstream_gene_variant OV-AU 16 2027624 2027624 single base substitution G A exon_variant OV-AU 16 2027624 2027624 single base substitution G A missense_variant D506N 1516G>A OV-AU 16 2027624 2027624 single base substitution G A missense_variant D618N 1852G>A OV-AU 16 2029481 2029481 single base substitution C A 3_prime_UTR_variant OV-AU 16 2029481 2029481 single base substitution C A downstream_gene_variant OV-AU 16 2036204 2036204 single base substitution G A downstream_gene_variant OV-AU 16 2036557 2036557 single base substitution T A downstream_gene_variant PACA-AU 16 2017141 2017141 single base substitution C T upstream_gene_variant PACA-AU 16 2018699 2018699 single base substitution C T upstream_gene_variant PACA-AU 16 2022149 2022151 deletion of <=200bp GCG - 5_prime_UTR_variant PACA-AU 16 2022149 2022151 deletion of <=200bp GCG - exon_variant PACA-AU 16 2022149 2022151 deletion of <=200bp GCG - upstream_gene_variant PACA-AU 16 2024881 2024881 single base substitution C G downstream_gene_variant PACA-AU 16 2024881 2024881 single base substitution C G intron_variant PACA-AU 16 2024881 2024881 single base substitution C G upstream_gene_variant PACA-AU 16 2025433 2025433 single base substitution G A downstream_gene_variant PACA-AU 16 2025433 2025433 single base substitution G A exon_variant PACA-AU 16 2025433 2025433 single base substitution G A missense_variant D174N 520G>A PACA-AU 16 2025433 2025433 single base substitution G A missense_variant D267N 799G>A PACA-AU 16 2025433 2025433 single base substitution G A upstream_gene_variant PACA-AU 16 2025822 2025822 single base substitution G C downstream_gene_variant PACA-AU 16 2025822 2025822 single base substitution G C exon_variant PACA-AU 16 2025822 2025822 single base substitution G C missense_variant S241T 722G>C PACA-AU 16 2025822 2025822 single base substitution G C missense_variant S334T 1001G>C PACA-AU 16 2025822 2025822 single base substitution G C upstream_gene_variant PACA-AU 16 2028642 2028642 single base substitution G A downstream_gene_variant PACA-AU 16 2028642 2028642 single base substitution G A exon_variant PACA-AU 16 2028642 2028642 single base substitution G A missense_variant A683T 2047G>A PACA-AU 16 2028642 2028642 single base substitution G A missense_variant A795T 2383G>A PACA-AU 16 2029619 2029619 single base substitution C T 3_prime_UTR_variant PACA-AU 16 2029619 2029619 single base substitution C T downstream_gene_variant PACA-AU 16 2031460 2031460 single base substitution C T 3_prime_UTR_variant PACA-AU 16 2031460 2031460 single base substitution C T downstream_gene_variant PACA-AU 16 2035844 2035844 single base substitution C G downstream_gene_variant PACA-CA 16 2017542 2017545 deletion of <=200bp TGTG - upstream_gene_variant PACA-CA 16 2024461 2024461 single base substitution C T intron_variant PACA-CA 16 2024461 2024461 single base substitution C T upstream_gene_variant PACA-CA 16 2024702 2024702 deletion of <=200bp G - intron_variant PACA-CA 16 2024702 2024702 deletion of <=200bp G - upstream_gene_variant PACA-CA 16 2026715 2026715 single base substitution G A downstream_gene_variant PACA-CA 16 2026715 2026715 single base substitution G A intron_variant PACA-CA 16 2026715 2026715 single base substitution G A upstream_gene_variant PACA-CA 16 2027598 2027598 deletion of <=200bp G - downstream_gene_variant PACA-CA 16 2027598 2027598 deletion of <=200bp G - exon_variant PACA-CA 16 2027598 2027598 deletion of <=200bp G - frameshift_variant W497 PACA-CA 16 2027598 2027598 deletion of <=200bp G - frameshift_variant W609 PACA-CA 16 2028891 2028891 single base substitution C T 3_prime_UTR_variant PACA-CA 16 2028891 2028891 single base substitution C T downstream_gene_variant PACA-CA 16 2032191 2032191 single base substitution C T 3_prime_UTR_variant PACA-CA 16 2032191 2032191 single base substitution C T downstream_gene_variant PACA-CA 16 2035697 2035697 single base substitution C A downstream_gene_variant PACA-CA 16 2037215 2037215 single base substitution G C downstream_gene_variant PAEN-IT 16 2019717 2019717 single base substitution C T upstream_gene_variant PBCA-DE 16 2021219 2021219 insertion of <=200bp - T upstream_gene_variant PBCA-DE 16 2033306 2033306 single base substitution A G downstream_gene_variant PBCA-DE 16 2033323 2033323 deletion of <=200bp T - downstream_gene_variant PBCA-DE 16 2037370 2037370 single base substitution C T downstream_gene_variant PRAD-CA 16 2021066 2021066 single base substitution C G upstream_gene_variant PRAD-UK 16 2020649 2020649 single base substitution G A upstream_gene_variant PRAD-UK 16 2024715 2024715 insertion of <=200bp - A intron_variant PRAD-UK 16 2024715 2024715 insertion of <=200bp - A upstream_gene_variant PRAD-US 16 2025082 2025082 single base substitution C T downstream_gene_variant PRAD-US 16 2025082 2025082 single base substitution C T exon_variant PRAD-US 16 2025082 2025082 single base substitution C T synonymous_variant D113D 339C>T PRAD-US 16 2025082 2025082 single base substitution C T synonymous_variant D206D 618C>T PRAD-US 16 2025082 2025082 single base substitution C T upstream_gene_variant PRAD-US 16 2030958 2030958 single base substitution G A 3_prime_UTR_variant PRAD-US 16 2030958 2030958 single base substitution G A downstream_gene_variant READ-US 16 2018650 2018650 single base substitution G A upstream_gene_variant READ-US 16 2025604 2025604 single base substitution G C downstream_gene_variant READ-US 16 2025604 2025604 single base substitution G C exon_variant READ-US 16 2025604 2025604 single base substitution G C missense_variant E201Q 601G>C READ-US 16 2025604 2025604 single base substitution G C missense_variant E294Q 880G>C READ-US 16 2025604 2025604 single base substitution G C upstream_gene_variant READ-US 16 2029083 2029083 single base substitution G A 3_prime_UTR_variant READ-US 16 2029083 2029083 single base substitution G A downstream_gene_variant READ-US 16 2030008 2030008 single base substitution C T 3_prime_UTR_variant READ-US 16 2030008 2030008 single base substitution C T downstream_gene_variant RECA-EU 16 2024355 2024355 single base substitution G T intron_variant RECA-EU 16 2024355 2024355 single base substitution G T upstream_gene_variant SKCA-BR 16 2018633 2018633 single base substitution A C upstream_gene_variant SKCA-BR 16 2021965 2021965 single base substitution G A upstream_gene_variant SKCA-BR 16 2021984 2021984 single base substitution G A upstream_gene_variant SKCA-BR 16 2024933 2024933 single base substitution G A downstream_gene_variant SKCA-BR 16 2024933 2024933 single base substitution G A exon_variant SKCA-BR 16 2024933 2024933 single base substitution G A missense_variant V157M 469G>A SKCA-BR 16 2024933 2024933 single base substitution G A missense_variant V64M 190G>A SKCA-BR 16 2024933 2024933 single base substitution G A upstream_gene_variant SKCA-BR 16 2025970 2025970 single base substitution C T downstream_gene_variant SKCA-BR 16 2025970 2025970 single base substitution C T intron_variant SKCA-BR 16 2025970 2025970 single base substitution C T upstream_gene_variant SKCA-BR 16 2027476 2027476 single base substitution A G downstream_gene_variant SKCA-BR 16 2027476 2027476 single base substitution A G exon_variant SKCA-BR 16 2027476 2027476 single base substitution A G intron_variant SKCA-BR 16 2028651 2028651 single base substitution A C downstream_gene_variant SKCA-BR 16 2028651 2028651 single base substitution A C exon_variant SKCA-BR 16 2028651 2028651 single base substitution A C missense_variant T686P 2056A>C SKCA-BR 16 2028651 2028651 single base substitution A C missense_variant T798P 2392A>C SKCA-BR 16 2029445 2029445 single base substitution G A 3_prime_UTR_variant SKCA-BR 16 2029445 2029445 single base substitution G A downstream_gene_variant SKCA-BR 16 2034186 2034186 single base substitution G A downstream_gene_variant SKCA-BR 16 2035158 2035158 single base substitution T C downstream_gene_variant SKCA-BR 16 2037698 2037698 single base substitution C T downstream_gene_variant SKCM-US 16 2017795 2017795 single base substitution G A upstream_gene_variant SKCM-US 16 2018561 2018561 single base substitution G A upstream_gene_variant SKCM-US 16 2024083 2024083 single base substitution C T exon_variant SKCM-US 16 2024083 2024083 single base substitution C T missense_variant P23L 68C>T SKCM-US 16 2024083 2024083 single base substitution C T upstream_gene_variant SKCM-US 16 2024798 2024798 single base substitution C T downstream_gene_variant SKCM-US 16 2024798 2024798 single base substitution C T exon_variant SKCM-US 16 2024798 2024798 single base substitution C T synonymous_variant I138I 414C>T SKCM-US 16 2024798 2024798 single base substitution C T synonymous_variant I45I 135C>T SKCM-US 16 2024798 2024798 single base substitution C T upstream_gene_variant SKCM-US 16 2024953 2024953 single base substitution T C downstream_gene_variant SKCM-US 16 2024953 2024953 single base substitution T C exon_variant SKCM-US 16 2024953 2024953 single base substitution T C synonymous_variant P163P 489T>C SKCM-US 16 2024953 2024953 single base substitution T C synonymous_variant P70P 210T>C SKCM-US 16 2024953 2024953 single base substitution T C upstream_gene_variant SKCM-US 16 2024990 2024990 single base substitution G C downstream_gene_variant SKCM-US 16 2024990 2024990 single base substitution G C exon_variant SKCM-US 16 2024990 2024990 single base substitution G C missense_variant A176P 526G>C SKCM-US 16 2024990 2024990 single base substitution G C missense_variant A83P 247G>C SKCM-US 16 2024990 2024990 single base substitution G C upstream_gene_variant SKCM-US 16 2025061 2025084 deletion of <=200bp CTCACTGGCCTTCAGCGCCGACGG - downstream_gene_variant SKCM-US 16 2025061 2025084 deletion of <=200bp CTCACTGGCCTTCAGCGCCGACGG - exon_variant SKCM-US 16 2025061 2025084 deletion of <=200bp CTCACTGGCCTTCAGCGCCGACGG - inframe_deletion TSLAFSADG106T SKCM-US 16 2025061 2025084 deletion of <=200bp CTCACTGGCCTTCAGCGCCGACGG - inframe_deletion TSLAFSADG199T SKCM-US 16 2025061 2025084 deletion of <=200bp CTCACTGGCCTTCAGCGCCGACGG - upstream_gene_variant SKCM-US 16 2025386 2025386 single base substitution C T downstream_gene_variant SKCM-US 16 2025386 2025386 single base substitution C T exon_variant SKCM-US 16 2025386 2025386 single base substitution C T missense_variant S158F 473C>T SKCM-US 16 2025386 2025386 single base substitution C T missense_variant S251F 752C>T SKCM-US 16 2025386 2025386 single base substitution C T upstream_gene_variant SKCM-US 16 2025692 2025692 single base substitution C T downstream_gene_variant SKCM-US 16 2025692 2025692 single base substitution C T exon_variant SKCM-US 16 2025692 2025692 single base substitution C T missense_variant S230F 689C>T SKCM-US 16 2025692 2025692 single base substitution C T missense_variant S323F 968C>T SKCM-US 16 2025692 2025692 single base substitution C T upstream_gene_variant SKCM-US 16 2025811 2025811 single base substitution C T downstream_gene_variant SKCM-US 16 2025811 2025811 single base substitution C T splice_region_variant SKCM-US 16 2025811 2025811 single base substitution C T upstream_gene_variant SKCM-US 16 2025874 2025874 single base substitution C T downstream_gene_variant SKCM-US 16 2025874 2025874 single base substitution C T exon_variant SKCM-US 16 2025874 2025874 single base substitution C T synonymous_variant V258V 774C>T SKCM-US 16 2025874 2025874 single base substitution C T synonymous_variant V351V 1053C>T SKCM-US 16 2025874 2025874 single base substitution C T upstream_gene_variant SKCM-US 16 2026061 2026061 single base substitution C T downstream_gene_variant SKCM-US 16 2026061 2026061 single base substitution C T exon_variant SKCM-US 16 2026061 2026061 single base substitution C T synonymous_variant I285I 855C>T SKCM-US 16 2026061 2026061 single base substitution C T synonymous_variant I378I 1134C>T SKCM-US 16 2026061 2026061 single base substitution C T upstream_gene_variant SKCM-US 16 2027060 2027060 single base substitution C T downstream_gene_variant SKCM-US 16 2027060 2027060 single base substitution C T exon_variant SKCM-US 16 2027060 2027060 single base substitution C T synonymous_variant I370I 1110C>T SKCM-US 16 2027060 2027060 single base substitution C T synonymous_variant I482I 1446C>T SKCM-US 16 2027165 2027165 single base substitution C T downstream_gene_variant SKCM-US 16 2027165 2027165 single base substitution C T exon_variant SKCM-US 16 2027165 2027165 single base substitution C T synonymous_variant F405F 1215C>T SKCM-US 16 2027165 2027165 single base substitution C T synonymous_variant F517F 1551C>T SKCM-US 16 2027386 2027386 single base substitution G A downstream_gene_variant SKCM-US 16 2027386 2027386 single base substitution G A exon_variant SKCM-US 16 2027386 2027386 single base substitution G A synonymous_variant L455L 1365G>A SKCM-US 16 2027386 2027386 single base substitution G A synonymous_variant L567L 1701G>A SKCM-US 16 2028154 2028154 single base substitution C T downstream_gene_variant SKCM-US 16 2028154 2028154 single base substitution C T exon_variant SKCM-US 16 2028154 2028154 single base substitution C T synonymous_variant I577I 1731C>T SKCM-US 16 2028154 2028154 single base substitution C T synonymous_variant I689I 2067C>T SKCM-US 16 2028358 2028358 single base substitution C T downstream_gene_variant SKCM-US 16 2028358 2028358 single base substitution C T exon_variant SKCM-US 16 2028358 2028358 single base substitution C T missense_variant H615Y 1843C>T SKCM-US 16 2028358 2028358 single base substitution C T missense_variant H727Y 2179C>T SKCM-US 16 2028377 2028377 single base substitution C T downstream_gene_variant SKCM-US 16 2028377 2028377 single base substitution C T exon_variant SKCM-US 16 2028377 2028377 single base substitution C T missense_variant A621V 1862C>T SKCM-US 16 2028377 2028377 single base substitution C T missense_variant A733V 2198C>T SKCM-US 16 2029903 2029903 single base substitution G A 3_prime_UTR_variant SKCM-US 16 2029903 2029903 single base substitution G A downstream_gene_variant SKCM-US 16 2035946 2035946 single base substitution C A downstream_gene_variant STAD-US 16 2018579 2018579 single base substitution C A upstream_gene_variant STAD-US 16 2024271 2024271 single base substitution C T exon_variant STAD-US 16 2024271 2024271 single base substitution C T missense_variant A56V 167C>T STAD-US 16 2024271 2024271 single base substitution C T upstream_gene_variant STAD-US 16 2024398 2024398 single base substitution G T exon_variant STAD-US 16 2024398 2024398 single base substitution G T missense_variant A71S 211G>T STAD-US 16 2024398 2024398 single base substitution G T upstream_gene_variant STAD-US 16 2024837 2024837 single base substitution C T downstream_gene_variant STAD-US 16 2024837 2024837 single base substitution C T exon_variant STAD-US 16 2024837 2024837 single base substitution C T synonymous_variant P151P 453C>T STAD-US 16 2024837 2024837 single base substitution C T synonymous_variant P58P 174C>T STAD-US 16 2024837 2024837 single base substitution C T upstream_gene_variant STAD-US 16 2024963 2024963 single base substitution C T downstream_gene_variant STAD-US 16 2024963 2024963 single base substitution C T exon_variant STAD-US 16 2024963 2024963 single base substitution C T synonymous_variant L167L 499C>T STAD-US 16 2024963 2024963 single base substitution C T synonymous_variant L74L 220C>T STAD-US 16 2024963 2024963 single base substitution C T upstream_gene_variant STAD-US 16 2025090 2025090 single base substitution C T downstream_gene_variant STAD-US 16 2025090 2025090 single base substitution C T exon_variant STAD-US 16 2025090 2025090 single base substitution C T missense_variant T116I 347C>T STAD-US 16 2025090 2025090 single base substitution C T missense_variant T209I 626C>T STAD-US 16 2025090 2025090 single base substitution C T upstream_gene_variant STAD-US 16 2025196 2025196 single base substitution G A downstream_gene_variant STAD-US 16 2025196 2025196 single base substitution G A exon_variant STAD-US 16 2025196 2025196 single base substitution G A missense_variant R122H 365G>A STAD-US 16 2025196 2025196 single base substitution G A missense_variant R215H 644G>A STAD-US 16 2025196 2025196 single base substitution G A upstream_gene_variant STAD-US 16 2025588 2025588 single base substitution G A downstream_gene_variant STAD-US 16 2025588 2025588 single base substitution G A exon_variant STAD-US 16 2025588 2025588 single base substitution G A synonymous_variant P195P 585G>A STAD-US 16 2025588 2025588 single base substitution G A synonymous_variant P288P 864G>A STAD-US 16 2025588 2025588 single base substitution G A upstream_gene_variant STAD-US 16 2026090 2026090 single base substitution G T downstream_gene_variant STAD-US 16 2026090 2026090 single base substitution G T exon_variant STAD-US 16 2026090 2026090 single base substitution G T missense_variant G295V 884G>T STAD-US 16 2026090 2026090 single base substitution G T missense_variant G388V 1163G>T STAD-US 16 2026090 2026090 single base substitution G T upstream_gene_variant STAD-US 16 2026277 2026277 single base substitution C T downstream_gene_variant STAD-US 16 2026277 2026277 single base substitution C T exon_variant STAD-US 16 2026277 2026277 single base substitution C T intron_variant STAD-US 16 2026277 2026277 single base substitution C T synonymous_variant S418S 1254C>T STAD-US 16 2026277 2026277 single base substitution C T upstream_gene_variant STAD-US 16 2028044 2028044 single base substitution G A downstream_gene_variant STAD-US 16 2028044 2028044 single base substitution G A exon_variant STAD-US 16 2028044 2028044 single base substitution G A missense_variant V570M 1708G>A STAD-US 16 2028044 2028044 single base substitution G A missense_variant V682M 2044G>A THCA-SA 16 2027764 2027764 single base substitution G A downstream_gene_variant THCA-SA 16 2027764 2027764 single base substitution G A exon_variant THCA-SA 16 2027764 2027764 single base substitution G A missense_variant A529T 1585G>A THCA-SA 16 2027764 2027764 single base substitution G A missense_variant A641T 1921G>A UCEC-US 16 2017280 2017280 single base substitution C T upstream_gene_variant UCEC-US 16 2017301 2017301 single base substitution C T upstream_gene_variant UCEC-US 16 2017804 2017804 single base substitution T G upstream_gene_variant UCEC-US 16 2018738 2018738 single base substitution C T upstream_gene_variant UCEC-US 16 2018741 2018741 single base substitution C T upstream_gene_variant UCEC-US 16 2024810 2024810 single base substitution C T downstream_gene_variant UCEC-US 16 2024810 2024810 single base substitution C T exon_variant UCEC-US 16 2024810 2024810 single base substitution C T synonymous_variant Y142Y 426C>T UCEC-US 16 2024810 2024810 single base substitution C T synonymous_variant Y49Y 147C>T UCEC-US 16 2024810 2024810 single base substitution C T upstream_gene_variant UCEC-US 16 2025077 2025077 single base substitution G A downstream_gene_variant UCEC-US 16 2025077 2025077 single base substitution G A exon_variant UCEC-US 16 2025077 2025077 single base substitution G A missense_variant A112T 334G>A UCEC-US 16 2025077 2025077 single base substitution G A missense_variant A205T 613G>A UCEC-US 16 2025077 2025077 single base substitution G A upstream_gene_variant UCEC-US 16 2025572 2025572 single base substitution A G downstream_gene_variant UCEC-US 16 2025572 2025572 single base substitution A G exon_variant UCEC-US 16 2025572 2025572 single base substitution A G missense_variant Y190C 569A>G UCEC-US 16 2025572 2025572 single base substitution A G missense_variant Y283C 848A>G UCEC-US 16 2025572 2025572 single base substitution A G upstream_gene_variant UCEC-US 16 2025588 2025588 single base substitution G A downstream_gene_variant UCEC-US 16 2025588 2025588 single base substitution G A exon_variant UCEC-US 16 2025588 2025588 single base substitution G A synonymous_variant P195P 585G>A UCEC-US 16 2025588 2025588 single base substitution G A synonymous_variant P288P 864G>A UCEC-US 16 2025588 2025588 single base substitution G A upstream_gene_variant UCEC-US 16 2027399 2027399 single base substitution G A downstream_gene_variant UCEC-US 16 2027399 2027399 single base substitution G A exon_variant UCEC-US 16 2027399 2027399 single base substitution G A missense_variant V460M 1378G>A UCEC-US 16 2027399 2027399 single base substitution G A missense_variant V572M 1714G>A UCEC-US 16 2028439 2028439 single base substitution C T downstream_gene_variant UCEC-US 16 2028439 2028439 single base substitution C T exon_variant UCEC-US 16 2028439 2028439 single base substitution C T missense_variant R642W 1924C>T UCEC-US 16 2028439 2028439 single base substitution C T missense_variant R754W 2260C>T UCEC-US 16 2028594 2028594 single base substitution G A downstream_gene_variant UCEC-US 16 2028594 2028594 single base substitution G A exon_variant UCEC-US 16 2028594 2028594 single base substitution G A missense_variant A667T 1999G>A UCEC-US 16 2028594 2028594 single base substitution G A missense_variant A779T 2335G>A UCEC-US 16 2030074 2030074 single base substitution A G 3_prime_UTR_variant UCEC-US 16 2030074 2030074 single base substitution A G downstream_gene_variant UCEC-US 16 2030445 2030445 single base substitution G A 3_prime_UTR_variant UCEC-US 16 2030445 2030445 single base substitution G A downstream_gene_variant UCEC-US 16 2035969 2035969 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AG-3725-01 COSM434785 c.880G>C p.E294Q Substitution - Missense 16:1975603-1975603 + RKO COSM2129482 c.1187A>G p.K396R Substitution - Missense 16:1976113-1976113 + OSCC-GB_00650111 COSM4890434 c.9G>T p.E3D Substitution - Missense 16:1972173-1972173 + SC_9094 COSM5550558 c.2380G>A p.A794T Substitution - Missense 16:1978638-1978638 + TCGA-EB-A3Y7-01 COSM3506858 c.1053C>T p.V351V Substitution - coding silent 16:1975873-1975873 + TCGA-G3-A25S-01 COSM4926988 c.1940A>G p.Q647R Substitution - Missense 16:1977782-1977782 + sysucc-880T COSM5462509 c.974G>A p.R325Q Substitution - Missense 16:1975697-1975697 + TCGA-24-2267-01 COSM117662 c.112C>T p.H38Y Substitution - Missense 16:1974215-1974215 + TCGA-EE-A3J8-06 COSM3506864 c.2198C>T p.A733V Substitution - Missense 16:1978376-1978376 + SJHGG029_R COSM434785 c.880G>C p.E294Q Substitution - Missense 16:1975603-1975603 + T1154 COSM4732478 c.1275C>T p.G425G Substitution - coding silent 16:1976297-1976297 + SC_9058 COSM5563540 c.879G>A p.Q293Q Substitution - coding silent 16:1975602-1975602 + PR-00-1165 COSM247742 c.909C>T p.T303T Substitution - coding silent 16:1975632-1975632 + PT17_1 COSM5899141 c.190-5C>T p.? Unknown 16:1974371-1974371 + S0029 COSM5882674 c.1592C>T p.P531L Substitution - Missense 16:1977205-1977205 + TCGA-EE-A2MS-06 COSM3506857 c.990C>T p.F330F Substitution - coding silent 16:1975810-1975810 + TCGA-AM-5820-01 COSM3754758 c.654A>C p.I218I Substitution - coding silent 16:1975205-1975205 + 587332 COSM1228666 c.161C>T p.S54L Substitution - Missense 16:1974264-1974264 + TCGA-C8-A26Y-01 COSM3817418 c.797G>C p.G266A Substitution - Missense 16:1975430-1975430 + LS174T COSM2129506 c.2125G>A p.D709N Substitution - Missense 16:1978211-1978211 + TCGA-FW-A3R5-06 COSM3888053 c.968C>T p.S323F Substitution - Missense 16:1975691-1975691 + TCGA-BR-4368-01 COSM4058936 c.453C>T p.P151P Substitution - coding silent 16:1974836-1974836 + RC-2 COSM328542 c.2322C>T p.T774T Substitution - coding silent 16:1978580-1978580 + ccRCC-59 COSM1659737 c.2147G>T p.R716L Substitution - Missense 16:1978325-1978325 + PTC-515C COSM4128768 c.1786G>T p.E596* Substitution - Nonsense 16:1977557-1977557 + SNU-175 COSM2129489 c.1540C>T p.L514L Substitution - coding silent 16:1977153-1977153 + CHC320T COSM3765865 c.2418A>G p.A806A Substitution - coding silent 16:1978676-1978676 + ESO-732 COSM1267496 c.1003_1005delGAG p.E336delE Deletion - In frame 16:1975823-1975825 + RC-19 COSM328542 c.2322C>T p.T774T Substitution - coding silent 16:1978580-1978580 + TCGA-AP-A0LM-01 COSM967986 c.848A>G p.Y283C Substitution - Missense 16:1975571-1975571 + PTC-28C COSM3754758 c.654A>C p.I218I Substitution - coding silent 16:1975205-1975205 + TCGA-EE-A2MJ-06 COSM3506863 c.2179C>T p.H727Y Substitution - Missense 16:1978357-1978357 + LUAD-D02326 COSM371769 c.1054G>A p.V352M Substitution - Missense 16:1975874-1975874 + TCGA-AU-6004-01 COSM434787 c.2223A>C p.R741R Substitution - coding silent 16:1978401-1978401 + TCGA-B7-5816-01 COSM4058940 c.1163G>T p.G388V Substitution - Missense 16:1976089-1976089 + TCGA-JX-A3Q8-01 COSM4833594 c.1852G>C p.D618H Substitution - Missense 16:1977623-1977623 + TCGA-AP-A0LM-01 COSM967991 c.2335G>A p.A779T Substitution - Missense 16:1978593-1978593 + PT48 COSM5933492 c.94-6C>G p.? Unknown 16:1974191-1974191 + TCGA-A2-A0CT-01 COSM434784 c.218A>G p.D73G Substitution - Missense 16:1974404-1974404 + TCGA-D3-A3ML-06 COSM3506862 c.2067C>T p.I689I Substitution - coding silent 16:1978153-1978153 + HCC39T COSM1609008 c.916G>T p.V306L Substitution - Missense 16:1975639-1975639 + YUGOE COSM1708627 c.707T>G p.F236C Substitution - Missense 16:1975258-1975258 + PR-00-1165 COSM247743 c.1181G>A p.C394Y Substitution - Missense 16:1976107-1976107 + TCGA-EB-A3XB-01 COSM3506861 c.1701G>A p.L567L Substitution - coding silent 16:1977385-1977385 + BN24 COSM1609009 c.2261G>A p.R754Q Substitution - Missense 16:1978439-1978439 + RK140_C01 COSM3701055 c.1438A>G p.K480E Substitution - Missense 16:1976959-1976959 + Pat_24_A COSM5850351 c.1502G>A p.R501H Substitution - Missense 16:1977115-1977115 + TCGA-GF-A6C9-06 COSM4900331 c.489T>C p.P163P Substitution - coding silent 16:1974952-1974952 + TCGA-AM-5820-01 COSM3754760 c.954C>A p.L318L Substitution - coding silent 16:1975677-1975677 + TCGA-32-5222-01 COSM3402131 c.618C>T p.D206D Substitution - coding silent 16:1975081-1975081 + TCGA-AD-6964-01 COSM3690687 c.1525C>T p.P509S Substitution - Missense 16:1977138-1977138 + HCC25T COSM1609010 c.2412A>G p.K804K Substitution - coding silent 16:1978670-1978670 + TCGA-CD-5798-01 COSM4058942 c.2044G>A p.V682M Substitution - Missense 16:1978043-1978043 + CSCC-55-T COSM4463756 c.1304C>T p.S435F Substitution - Missense 16:1976825-1976825 + EGC15 COSM2129457 c.397G>A p.V133M Substitution - Missense 16:1974780-1974780 + STC297 COSM5054702 c.1662C>T p.S554S Substitution - coding silent 16:1977275-1977275 + TCGA-HF-7132-01 COSM4058938 c.626C>T p.T209I Substitution - Missense 16:1975089-1975089 + TCGA-37-4135-01 COSM702548 c.1197C>A p.S399R Substitution - Missense 16:1976219-1976219 + UM-SCC-2 COSM2129461 c.480C>G p.H160Q Substitution - Missense 16:1974943-1974943 + HX34T COSM3706905 c.465-8G>T p.? Unknown 16:1974920-1974920 + TCGA-D1-A167-01 COSM967984 c.426C>T p.Y142Y Substitution - coding silent 16:1974809-1974809 + T2944 COSM4732480 c.2221C>T p.R741* Substitution - Nonsense 16:1978399-1978399 + 1011 COSM5730648 c.385_386delTG p.C129fs*1 Deletion - Frameshift 16:1974768-1974769 + YUKAT COSM5384389 c.2344G>A p.D782N Substitution - Missense 16:1978602-1978602 + TCGA-HU-A4GQ-01 COSM967987 c.864G>A p.P288P Substitution - coding silent 16:1975587-1975587 + RC-18 COSM328542 c.2322C>T p.T774T Substitution - coding silent 16:1978580-1978580 + 214 COSM4424295 c.534C>T p.R178R Substitution - coding silent 16:1974997-1974997 + CHC2029T COSM4793016 c.244G>A p.V82M Substitution - Missense 16:1974544-1974544 + 2492729 COSM5725810 c.1908C>T p.T636T Substitution - coding silent 16:1977750-1977750 + LAU618 COSM233548 c.1871C>T p.A624V Substitution - Missense 16:1977642-1977642 + CSCC-29-T COSM4528185 c.1518G>A p.W506* Substitution - Nonsense 16:1977131-1977131 + RC-10 COSM328542 c.2322C>T p.T774T Substitution - coding silent 16:1978580-1978580 + 4_PRE-TREATMENT COSM1724338 c.897C>T p.T299T Substitution - coding silent 16:1975620-1975620 + HCT15 COSM2129485 c.1293G>A p.R431R Substitution - coding silent 16:1976814-1976814 + pfg122T COSM4748616 c.2255G>A p.G752D Substitution - Missense 16:1978433-1978433 + SJOS001107_M2 COSM5024190 c.1720C>T p.R574C Substitution - Missense 16:1977404-1977404 + YUDON COSM3888054 c.1134C>T p.I378I Substitution - coding silent 16:1976060-1976060 + T3724 COSM4732479 c.1564C>T p.R522C Substitution - Missense 16:1977177-1977177 + ESO-1096 COSM1267497 c.1435G>T p.D479Y Substitution - Missense 16:1976956-1976956 + TCGA-BR-4370-01 COSM4058939 c.644G>A p.R215H Substitution - Missense 16:1975195-1975195 + TCGA-B5-A11I-01 COSM967989 c.2163G>A p.W721* Substitution - Nonsense 16:1978341-1978341 + CSCC-7-T COSM3506857 c.990C>T p.F330F Substitution - coding silent 16:1975810-1975810 + TCGA-EE-A2GN-06 COSM3506860 c.1551C>T p.F517F Substitution - coding silent 16:1977164-1977164 + 587226 COSM1228663 c.442C>T p.R148* Substitution - Nonsense 16:1974825-1974825 + LOVO COSM4645217 c.815G>A p.R272H Substitution - Missense 16:1975538-1975538 + TCGA-CU-A3KJ-01 COSM1301690 c.164G>A p.G55E Substitution - Missense 16:1974267-1974267 + STC246 COSM5054704 c.2047C>T p.L683L Substitution - coding silent 16:1978046-1978046 + TCGA-D1-A103-01 COSM967990 c.2260C>T p.R754W Substitution - Missense 16:1978438-1978438 + 631056 COSM326640 c.1493C>T p.S498L Substitution - Missense 16:1977106-1977106 + 8031644 COSM3387265 c.2383G>A p.A795T Substitution - Missense 16:1978641-1978641 + 29T COSM3718497 c.56G>A p.R19H Substitution - Missense 16:1974070-1974070 + TCGA-JW-A5VL-01 COSM4846940 c.1915G>C p.E639Q Substitution - Missense 16:1977757-1977757 + TCGA-EB-A3XC-01 COSM3506855 c.414C>T p.I138I Substitution - coding silent 16:1974797-1974797 + CHC205T COSM3754758 c.654A>C p.I218I Substitution - coding silent 16:1975205-1975205 + WT017 COSM5351854 c.616G>A p.D206N Substitution - Missense 16:1975079-1975079 + 93VU147T COSM1194235 c.2155G>A p.V719I Substitution - Missense 16:1978333-1978333 + 587220 COSM1228664 c.964C>T p.R322C Substitution - Missense 16:1975687-1975687 + TCGA-CD-A4MG-01 COSM4058935 c.211G>T p.A71S Substitution - Missense 16:1974397-1974397 + RKO COSM2129479 c.1102G>A p.A368T Substitution - Missense 16:1975922-1975922 + 113368 COSM326638 c.59A>C p.K20T Substitution - Missense 16:1974073-1974073 + DLD1 COSM4623256 c.816C>T p.R272R Substitution - coding silent 16:1975539-1975539 + 1_RESISTANT COSM1720650 c.268C>T p.L90L Substitution - coding silent 16:1974568-1974568 + CHC1732T COSM4804309 c.2354G>T p.W785L Substitution - Missense 16:1978612-1978612 + 587224 COSM1228665 c.2123G>A p.R708H Substitution - Missense 16:1978209-1978209 + HCC39 COSM1609008 c.916G>T p.V306L Substitution - Missense 16:1975639-1975639 + TCGA-AY-6197-01 COSM3754759 c.863C>T p.P288L Substitution - Missense 16:1975586-1975586 + CHEWS013 COSM4578751 c.81C>T p.G27G Substitution - coding silent 16:1974095-1974095 + TCGA-UB-A7MB-01 COSM4932738 c.1247A>T p.Q416L Substitution - Missense 16:1976269-1976269 + TCGA-D1-A17B-01 COSM967987 c.864G>A p.P288P Substitution - coding silent 16:1975587-1975587 + TCGA-AP-A059-01 COSM967985 c.613G>A p.A205T Substitution - Missense 16:1975076-1975076 + CSCC-19-T COSM4563283 c.965G>C p.R322P Substitution - Missense 16:1975688-1975688 + AOCS-060-1-5 COSM3948339 c.1852G>A p.D618N Substitution - Missense 16:1977623-1977623 + CHC2029T COSM4793016 c.244G>A p.V82M Substitution - Missense 16:1974544-1974544 + CHC1732T COSM4804309 c.2354G>T p.W785L Substitution - Missense 16:1978612-1978612 + PDA_040 COSM5000153 c.2422C>A p.P808T Substitution - Missense 16:1978680-1978680 + YUFIT COSM5384388 c.773C>T p.P258L Substitution - Missense 16:1975406-1975406 + TCGA-AZ-4615-01 COSM3690811 c.1812C>T p.H604H Substitution - coding silent 16:1977583-1977583 + PD13771a COSM5780406 c.670C>T p.L224F Substitution - Missense 16:1975221-1975221 + TCGA-FS-A4FD-06 COSM3888052 c.526G>C p.A176P Substitution - Missense 16:1974989-1974989 + 2328682 COSM4972250 c.2200G>C p.V734L Substitution - Missense 16:1978378-1978378 + Pat_11_A COSM5850350 c.526G>A p.A176T Substitution - Missense 16:1974989-1974989 + I2L-P7-Tumor-Organoid COSM5363614 c.1048G>A p.V350I Substitution - Missense 16:1975868-1975868 + TCGA-G4-6588-01 COSM1376325 c.402C>T p.R134R Substitution - coding silent 16:1974785-1974785 + 8036161 COSM3387264 c.1001G>C p.S334T Substitution - Missense 16:1975821-1975821 + TCGA-HU-A4GT-01 COSM4058934 c.167C>T p.A56V Substitution - Missense 16:1974270-1974270 + TCGA-AY-6197-01 COSM434785 c.880G>C p.E294Q Substitution - Missense 16:1975603-1975603 + 134398 COSM326639 c.1696G>C p.V566L Substitution - Missense 16:1977380-1977380 + TCGA-AP-A059-01 COSM967988 c.1714G>A p.V572M Substitution - Missense 16:1977398-1977398 + STC291 COSM5054703 c.1795C>T p.R599W Substitution - Missense 16:1977566-1977566 + T2944 COSM4732477 c.615C>T p.A205A Substitution - coding silent 16:1975078-1975078 + 2492718 COSM5719137 c.635+2T>C p.? Unknown 16:1975100-1975100 + T3174 COSM4732481 c.2333C>T p.A778V Substitution - Missense 16:1978591-1978591 + TCGA-FW-A3R5-06 COSM3888054 c.1134C>T p.I378I Substitution - coding silent 16:1976060-1976060 + TCGA-E2-A14O-01 COSM434786 c.1829G>A p.G610E Substitution - Missense 16:1977600-1977600 + TCGA-FW-A3R5-06 COSM3888051 c.68C>T p.P23L Substitution - Missense 16:1974082-1974082 + 1_PRE-TREATMENT COSM1720650 c.268C>T p.L90L Substitution - coding silent 16:1974568-1974568 + ESCC_BICR_013T COSM5439287 c.308T>A p.L103Q Substitution - Missense 16:1974608-1974608 + PD13299a COSM5794914 c.148C>G p.L50V Substitution - Missense 16:1974251-1974251 + TCGA-CM-5861-01 COSM1376327 c.1227C>T p.G409G Substitution - coding silent 16:1976249-1976249 + TCGA-ER-A19K-01 COSM3506856 c.752C>T p.S251F Substitution - Missense 16:1975385-1975385 + 4_RESISTANT COSM1724338 c.897C>T p.T299T Substitution - coding silent 16:1975620-1975620 + sysucc-1370T COSM5470453 c.1749G>A p.S583S Substitution - coding silent 16:1977520-1977520 + 8067521 COSM4389119 c.799G>A p.D267N Substitution - Missense 16:1975432-1975432 + TCGA-18-3406-01 COSM702549 c.494G>A p.R165H Substitution - Missense 16:1974957-1974957 + CHC1746T COSM4787911 c.1302G>C p.E434D Substitution - Missense 16:1976823-1976823 + ESO-081 COSM1243664 c.1121G>A p.G374D Substitution - Missense 16:1975941-1975941 + DLD1 COSM2129485 c.1293G>A p.R431R Substitution - coding silent 16:1976814-1976814 + J83_T COSM3957276 c.1900G>T p.D634Y Substitution - Missense 16:1977742-1977742 + TCGA-AY-6197-01 COSM1376328 c.1239C>T p.C413C Substitution - coding silent 16:1976261-1976261 + TCGA-KK-A59V-01 COSM3402131 c.618C>T p.D206D Substitution - coding silent 16:1975081-1975081 + ESCC_BICR_016T COSM5439512 c.395C>T p.A132V Substitution - Missense 16:1974778-1974778 + TCGA-IR-A3LK-01 COSM4817729 c.193G>A p.D65N Substitution - Missense 16:1974379-1974379 + OSCC-GB_00290111 COSM3718497 c.56G>A p.R19H Substitution - Missense 16:1974070-1974070 + LUAD-NYU259 COSM371769 c.1054G>A p.V352M Substitution - Missense 16:1975874-1975874 + H358 COSM1194235 c.2155G>A p.V719I Substitution - Missense 16:1978333-1978333 + TCGA-BR-8591-01 COSM4058937 c.499C>T p.L167L Substitution - coding silent 16:1974962-1974962 + ccRCC-28 COSM1665990 c.711+1G>A p.? Unknown 16:1975263-1975263 + TCGA-AA-3712-01 COSM434787 c.2223A>C p.R741R Substitution - coding silent 16:1978401-1978401 + S00936 COSM315815 c.1424A>G p.Q475R Substitution - Missense 16:1976945-1976945 + C086 COSM3506855 c.414C>T p.I138I Substitution - coding silent 16:1974797-1974797 + TCGA-B0-5098-01 COSM1493599 c.1130-2A>G p.? Unknown 16:1976054-1976054 + TCGA-AM-5820-01 COSM434787 c.2223A>C p.R741R Substitution - coding silent 16:1978401-1978401 + TCGA-DA-A1IA-06 COSM3506859 c.1446C>T p.I482I Substitution - coding silent 16:1977059-1977059 + RKO COSM4647887 c.2426A>G p.*809W Nonstop extension 16:1978684-1978684 + CSCC-11-T COSM4532247 c.1868G>A p.G623E Substitution - Missense 16:1977639-1977639 + LS180 COSM2129506 c.2125G>A p.D709N Substitution - Missense 16:1978211-1978211 + CHC1746T COSM4787911 c.1302G>C p.E434D Substitution - Missense 16:1976823-1976823 + TCGA-CG-4442-01 COSM4058941 c.1254C>T p.S418S Substitution - coding silent 16:1976276-1976276 + BN24T COSM1609009 c.2261G>A p.R754Q Substitution - Missense 16:1978439-1978439 + PA028 COSM1162245 c.554G>A p.R185Q Substitution - Missense 16:1975017-1975017 + TCGA-DD-A4NF-01 COSM4912729 c.1379C>T p.T460I Substitution - Missense 16:1976900-1976900 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.513267 16p13.3 605915 2423109|CGAP|BC010231|A/C|coding|Ile218Ile|755|Validated; 2423109|CGAP|BC014007|A/C|coding|Ile218Ile|727|Validated; 2423109|CGAP|BC035409|A/C|coding|Ile218Ile|711|Validated; 2423113|CGAP|BC010231|A/C|coding|Arg741Arg|2324|Validated; 2423113|CGAP|BC014007|A/C|coding|Arg741Arg|2296|Validated; 2423113|CGAP|BC035409|A/C|coding|Arg741Arg|2280|Validated; 1531572|dbSNP|BC010231|A/G|coding|Lys804Lys|2513|Validated; 1531572|dbSNP|BC014007|A/G|coding|Lys804Lys|2485|Validated; 1531572|dbSNP|BC035409|A/G|coding|Lys804Lys|2469|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K20T c.59A>C 16 2024074 SCLC A C Missense p.T101P c.301A>C 16 2024602 HNSC A G Missense p.D73G c.218A>G 16 2024405 BRCA A G Missense p.Q475R c.1424A>G 16 2026946 SCLC C A Missense p.S399R c.1197C>A 16 2026220 LUSC C A Synonymous p.I138I c.414C>A 16 2024798 CM CC TT Missense p.P258L c.772_773delinsTT 16 2025406 CM CC TT Synonymous p.(=) c.969_970delinsTT 16 2025693 CM C T 3-UTRSNV . c.2424+63C>T 16 2028746 CM C T Missense p.A733V c.2198C>T 16 2028377 CM C T Missense p.H38Y c.112C>T 16 2024216 OV C T Missense p.H727Y c.2179C>T 16 2028358 CM C T Missense p.S251F c.752C>T 16 2025386 CM C T Missense p.S498L c.1493C>T 16 2027107 SCLC C T Missense p.T366M c.1097C>T 16 2025918 LUAD C T Synonymous p.A312A c.936C>T 16 2025660 LUAD C T Synonymous p.D206D c.618C>T 16 2025082 GBM C T Synonymous p.F330F c.990C>T 16 2025811 CM C T Synonymous p.F517F c.1551C>T 16 2027165 CM C T Synonymous p.I482I c.1446C>T 16 2027060 CM C T Synonymous p.I689I c.2067C>T 16 2028154 CM C T Synonymous p.P151P c.453C>T 16 2024837 STAD C T Synonymous p.V153V c.459C>T 16 2024843 CM GAG - InFrameDeletion p.E336delE c.1007_1009delAGG 16 2025824 ESCA G A Missense p.G55E c.164G>A 16 2024268 BLCA G A Missense p.G610E c.1829G>A 16 2027601 BRCA G A Missense p.R165H c.494G>A 16 2024958 LUSC G A Missense p.R215H c.644G>A 16 2025196 STAD G A Missense p.R665Q c.1994G>A 16 2027994 STAD G A Missense p.V682M c.2044G>A 16 2028044 STAD G A Synonymous p.P288P c.864G>A 16 2025588 UCEC G C Missense p.A779P c.2335G>C 16 2028594 HNSC G C Missense p.G292R c.874G>C 16 2025598 HNSC G C Missense p.V566L c.1696G>C 16 2027381 SCLC G T Missense p.D479Y c.1435G>T 16 2026957 ESCA G T Missense p.G388V c.1163G>T 16 2026090 STAD T C IntronicSNV . c.94-29T>C 16 2024169 CM T G Synonymous p.G127G c.381T>G 16 2024765 CM