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 12 6710509 6710509 + Missense_Mutation SNP G G C TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr12:6710509G>C c.745C>G c.(745-747)Cca>Gca p.P249A BLCA 12 6680126 6680126 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr12:6680126C>T c.5630G>A c.(5629-5631)cGa>cAa p.R1877Q BLCA 12 6682374 6682374 + Nonsense_Mutation SNP G G C TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr12:6682374G>C c.5423C>G c.(5422-5424)tCa>tGa p.S1808* BLCA 12 6682432 6682432 + Missense_Mutation SNP A A C TCGA-CF-A9FH-01A-11D-A38G-08 TCGA-CF-A9FH-10A-01D-A38J-08 g.chr12:6682432A>C c.5365T>G c.(5365-5367)Tta>Gta p.L1789V BLCA 12 6686986 6686986 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr12:6686986C>G c.5326G>C c.(5326-5328)Gag>Cag p.E1776Q BLCA 12 6690250 6690250 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr12:6690250C>G c.4869G>C c.(4867-4869)gtG>gtC p.V1623V BLCA 12 6690875 6690875 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr12:6690875G>C c.4621C>G c.(4621-4623)Cct>Gct p.P1541A BLCA 12 6690929 6690929 + Missense_Mutation SNP C C G TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr12:6690929C>G c.4567G>C c.(4567-4569)Gag>Cag p.E1523Q BLCA 12 6691315 6691315 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr12:6691315C>T c.4503G>A c.(4501-4503)ttG>ttA p.L1501L BLCA 12 6691413 6691413 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr12:6691413C>G c.4405G>C c.(4405-4407)Gag>Cag p.E1469Q BLCA 12 6691834 6691834 + Silent SNP A A G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 g.chr12:6691834A>G c.4317T>C c.(4315-4317)ttT>ttC p.F1439F BLCA 12 6692090 6692090 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr12:6692090G>A c.4160C>T c.(4159-4161)cCc>cTc p.P1387L BLCA 12 6692229 6692229 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr12:6692229C>G c.4111G>C c.(4111-4113)Gag>Cag p.E1371Q BLCA 12 6692376 6692376 + Missense_Mutation SNP G G C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 g.chr12:6692376G>C c.4048C>G c.(4048-4050)Cag>Gag p.Q1350E BLCA 12 6692427 6692427 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr12:6692427G>C c.3997C>G c.(3997-3999)Ctg>Gtg p.L1333V BLCA 12 6692529 6692529 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr12:6692529C>G c.3895G>C c.(3895-3897)Gaa>Caa p.E1299Q BLCA 12 6697466 6697466 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr12:6697466G>C c.3463C>G c.(3463-3465)Cag>Gag p.Q1155E BLCA 12 6700750 6700750 + Splice_Site SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr12:6700750C>T c.e22-1 BLCA 12 6701173 6701173 + Missense_Mutation SNP C C G TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr12:6701173C>G c.2999G>C c.(2998-3000)cGa>cCa p.R1000P BLCA 12 6702742 6702742 + Missense_Mutation SNP G G C TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr12:6702742G>C c.2354C>G c.(2353-2355)tCt>tGt p.S785C BLCA 12 6704529 6704529 + Nonsense_Mutation SNP C C A TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr12:6704529C>A c.2092G>T c.(2092-2094)Gag>Tag p.E698* BLCA 12 6705273 6705273 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr12:6705273C>G c.1923G>C c.(1921-1923)ttG>ttC p.L641F BLCA 12 6705294 6705294 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr12:6705294C>G c.1902G>C c.(1900-1902)aaG>aaC p.K634N BLCA 12 6707178 6707178 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr12:6707178C>T c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K BLCA 12 6707229 6707232 + Frame_Shift_Del DEL GATA GATA - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr12:6707229_6707232delGATA c.1720_1723delTATC c.(1720-1725)tatcagfs p.YQ574fs BLCA 12 6707456 6707456 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 g.chr12:6707456C>T c.1618G>A c.(1618-1620)Gag>Aag p.E540K BLCA 12 6707582 6707582 + Missense_Mutation SNP G G C TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr12:6707582G>C c.1492C>G c.(1492-1494)Ctg>Gtg p.L498V BLCA 12 6709148 6709148 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr12:6709148C>G c.1273G>C c.(1273-1275)Gag>Cag p.E425Q BLCA 12 6709440 6709440 + Silent SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr12:6709440G>A c.1185C>T c.(1183-1185)gtC>gtT p.V395V BLCA 12 6709469 6709469 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr12:6709469C>G c.1156G>C c.(1156-1158)Gat>Cat p.D386H BLCA 12 6709469 6709469 + Missense_Mutation SNP C C T TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr12:6709469C>T c.1156G>A c.(1156-1158)Gat>Aat p.D386N BLCA 12 6709556 6709556 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:6709556C>T c.1069G>A c.(1069-1071)Gag>Aag p.E357K BLCA 12 6710105 6710105 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr12:6710105C>T c.914G>A c.(913-915)cGt>cAt p.R305H BLCA 12 6711241 6711241 + Missense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr12:6711241C>T c.323G>A c.(322-324)aGc>aAc p.S108N BLCA 12 6711254 6711254 + Missense_Mutation SNP C C A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr12:6711254C>A c.310G>T c.(310-312)Gac>Tac p.D104Y BLCA 12 6715471 6715471 + Silent SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr12:6715471A>C c.69T>G c.(67-69)ctT>ctG p.L23L BRCA 12 6680152 6680152 + Silent SNP C C T TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr12:6680152C>T c.5604G>A c.(5602-5604)gtG>gtA p.V1868V BRCA 12 6680157 6680157 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr12:6680157C>T c.5599G>A c.(5599-5601)Gat>Aat p.D1867N BRCA 12 6688060 6688060 + Nonsense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 g.chr12:6688060C>A c.4933G>T c.(4933-4935)Gag>Tag p.E1645* BRCA 12 6690307 6690307 + Silent SNP A A G TCGA-E2-A1B6-01A-31D-A12Q-09 TCGA-E2-A1B6-10A-01D-A12Q-09 g.chr12:6690307A>G c.4812T>C c.(4810-4812)gaT>gaC p.D1604D BRCA 12 6690831 6690831 + Silent SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:6690831T>G c.4665A>C c.(4663-4665)gcA>gcC p.A1555A BRCA 12 6690968 6690968 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr12:6690968C>G c.4528G>C c.(4528-4530)Gaa>Caa p.E1510Q BRCA 12 6692026 6692026 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:6692026A>C c.4224T>G c.(4222-4224)ggT>ggG p.G1408G BRCA 12 6692457 6692457 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:6692457C>G c.3967G>C c.(3967-3969)Gag>Cag p.E1323Q BRCA 12 6692483 6692483 + Nonsense_Mutation SNP C C T TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr12:6692483C>T c.3941G>A c.(3940-3942)tGg>tAg p.W1314* BRCA 12 6696712 6696712 + Silent SNP T T C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 g.chr12:6696712T>C c.3717A>G c.(3715-3717)aaA>aaG p.K1239K BRCA 12 6697021 6697021 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:6697021A>C c.3560T>G c.(3559-3561)gTg>gGg p.V1187G BRCA 12 6697097 6697097 + Missense_Mutation SNP G G A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 g.chr12:6697097G>A c.3484C>T c.(3484-3486)Cgg>Tgg p.R1162W BRCA 12 6697539 6697539 + Silent SNP G G A TCGA-BH-A0HY-01A-11W-A071-09 TCGA-BH-A0HY-10A-02W-A071-09 g.chr12:6697539G>A c.3390C>T c.(3388-3390)ggC>ggT p.G1130G BRCA 12 6700887 6700887 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:6700887A>C c.3195T>G c.(3193-3195)ggT>ggG p.G1065G BRCA 12 6701124 6701124 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 g.chr12:6701124C>G c.3048G>C c.(3046-3048)aaG>aaC p.K1016N BRCA 12 6701207 6701207 + Missense_Mutation SNP T T A TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr12:6701207T>A c.2965A>T c.(2965-2967)Atc>Ttc p.I989F BRCA 12 6701926 6701926 + Missense_Mutation SNP G G T TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr12:6701926G>T c.2710C>A c.(2710-2712)Cca>Aca p.P904T BRCA 12 6702279 6702279 + Missense_Mutation SNP C C T TCGA-AQ-A1H3-01A-31D-A13L-09 TCGA-AQ-A1H3-10A-01D-A188-09 g.chr12:6702279C>T c.2630G>A c.(2629-2631)cGg>cAg p.R877Q BRCA 12 6702280 6702280 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 g.chr12:6702280G>A c.2629C>T c.(2629-2631)Cgg>Tgg p.R877W BRCA 12 6702280 6702280 + Missense_Mutation SNP G G A TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 g.chr12:6702280G>A c.2629C>T c.(2629-2631)Cgg>Tgg p.R877W BRCA 12 6702335 6702335 + Silent SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 g.chr12:6702335G>A c.2574C>T c.(2572-2574)gaC>gaT p.D858D BRCA 12 6702638 6702638 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr12:6702638C>T c.2458G>A c.(2458-2460)Gag>Aag p.E820K BRCA 12 6707089 6707089 + Nonsense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr12:6707089C>T c.1863G>A c.(1861-1863)tgG>tgA p.W621* BRCA 12 6707238 6707238 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:6707238G>A c.1714C>T c.(1714-1716)Cga>Tga p.R572* BRCA 12 6709817 6709817 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr12:6709817C>G c.946G>C c.(946-948)Gat>Cat p.D316H BRCA 12 6710219 6710219 + Splice_Site SNP C C A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 g.chr12:6710219C>A c.800G>T c.(799-801)gGt>gTt p.G267V BRCA 12 6710551 6710551 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 g.chr12:6710551C>G c.703G>C c.(703-705)Gct>Cct p.A235P BRCA 12 6711295 6711295 + Missense_Mutation SNP G G T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 g.chr12:6711295G>T c.269C>A c.(268-270)cCa>cAa p.P90Q BRCA 12 6715439 6715439 + Splice_Site SNP C C T TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr12:6715439C>T c.e2+1 CESC 12 6687053 6687053 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:6687053C>T c.5259G>A c.(5257-5259)caG>caA p.Q1753Q CESC 12 6687669 6687669 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr12:6687669C>T c.5025G>A c.(5023-5025)caG>caA p.Q1675Q CESC 12 6687678 6687678 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr12:6687678C>T c.5016G>A c.(5014-5016)gtG>gtA p.V1672V CESC 12 6690234 6690234 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr12:6690234C>T c.4885G>A c.(4885-4887)Gaa>Aaa p.E1629K CESC 12 6690291 6690291 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chr12:6690291C>T c.4828G>A c.(4828-4830)Gaa>Aaa p.E1610K CESC 12 6692280 6692280 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr12:6692280C>G c.e27-1 CESC 12 6701194 6701194 + Missense_Mutation SNP T T G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 g.chr12:6701194T>G c.2978A>C c.(2977-2979)aAt>aCt p.N993T CESC 12 6703682 6703682 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr12:6703682C>G c.2256G>C c.(2254-2256)gaG>gaC p.E752D CESC 12 6705248 6705248 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr12:6705248C>T c.1948G>A c.(1948-1950)Gat>Aat p.D650N CESC 12 6707155 6707155 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr12:6707155C>G c.1797G>C c.(1795-1797)aaG>aaC p.K599N CESC 12 6709028 6709028 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr12:6709028C>T c.1393G>A c.(1393-1395)Gat>Aat p.D465N CESC 12 6709699 6709699 + Splice_Site SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 g.chr12:6709699C>T c.e8+1 CESC 12 6710828 6710828 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 g.chr12:6710828G>A c.543C>T c.(541-543)ttC>ttT p.F181F CESC 12 6711619 6711619 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:6711619G>C c.145C>G c.(145-147)Cca>Gca p.P49A CHOL 12 6680126 6680126 + Missense_Mutation SNP C C T TCGA-W5-AA2G-01A-11D-A417-09 TCGA-W5-AA2G-10A-01D-A41A-09 g.chr12:6680126C>T c.5630G>A c.(5629-5631)cGa>cAa p.R1877Q COAD 12 6680111 6680111 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:6680111G>A c.5645C>T c.(5644-5646)gCt>gTt p.A1882V COAD 12 6680121 6680121 + Missense_Mutation SNP G G C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:6680121G>C c.5635C>G c.(5635-5637)Ccc>Gcc p.P1879A COAD 12 6687281 6687281 + Silent SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:6687281A>G c.5142T>C c.(5140-5142)aaT>aaC p.N1714N COAD 12 6690530 6690530 + Frame_Shift_Del DEL T T - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:6690530delT c.4706delA c.(4705-4707)aatfs p.N1569fs COAD 12 6690896 6690896 + Missense_Mutation SNP C C A TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr12:6690896C>A c.4600G>T c.(4600-4602)Ggg>Tgg p.G1534W COAD 12 6690953 6690953 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:6690953G>A c.4543C>T c.(4543-4545)Cgc>Tgc p.R1515C COAD 12 6691409 6691409 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:6691409G>A c.4409C>T c.(4408-4410)cCg>cTg p.P1470L COAD 12 6691425 6691425 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:6691425G>A c.4393C>T c.(4393-4395)Cgg>Tgg p.R1465W COAD 12 6692034 6692034 + Missense_Mutation SNP G G C TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr12:6692034G>C c.4216C>G c.(4216-4218)Cgt>Ggt p.R1406G COAD 12 6692036 6692036 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:6692036G>A c.4214C>T c.(4213-4215)gCc>gTc p.A1405V COAD 12 6692038 6692039 + Frame_Shift_Ins INS - - A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:6692038_6692039insA c.4211_4212insT c.(4210-4212)ttgfs p.L1404fs COAD 12 6692411 6692411 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:6692411C>A c.4013G>T c.(4012-4014)aGa>aTa p.R1338I COAD 12 6696607 6696607 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:6696607A>G c.3822T>C c.(3820-3822)aaT>aaC p.N1274N COAD 12 6697051 6697051 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:6697051C>T c.3530G>A c.(3529-3531)cGt>cAt p.R1177H COAD 12 6700632 6700632 + Splice_Site SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:6700632C>T c.3340G>A c.(3340-3342)Gca>Aca p.A1114T COAD 12 6700638 6700638 + Missense_Mutation SNP A A G TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr12:6700638A>G c.3334T>C c.(3334-3336)Ttc>Ctc p.F1112L COAD 12 6700659 6700659 + Missense_Mutation SNP G G A TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr12:6700659G>A c.3313C>T c.(3313-3315)Cgg>Tgg p.R1105W COAD 12 6700689 6700689 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr12:6700689G>A c.3283C>T c.(3283-3285)Cgc>Tgc p.R1095C COAD 12 6700692 6700692 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:6700692C>T c.3280G>A c.(3280-3282)Gaa>Aaa p.E1094K COAD 12 6701583 6701583 + Missense_Mutation SNP C C T TCGA-AA-3530-01A-01W-0995-10 TCGA-AA-3530-10A-01W-0995-10 g.chr12:6701583C>T c.2924G>A c.(2923-2925)cGt>cAt p.R975H COAD 12 6701583 6701583 + Missense_Mutation SNP C C T TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr12:6701583C>T c.2924G>A c.(2923-2925)cGt>cAt p.R975H COAD 12 6701669 6701669 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:6701669C>T c.2838G>A c.(2836-2838)ctG>ctA p.L946L COAD 12 6701672 6701672 + Frame_Shift_Del DEL T T - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:6701672delT c.2835delA c.(2833-2835)aaafs p.K945fs COAD 12 6702646 6702646 + Missense_Mutation SNP C C T TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr12:6702646C>T c.2450G>A c.(2449-2451)cGa>cAa p.R817Q COAD 12 6702753 6702753 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:6702753G>A c.2343C>T c.(2341-2343)agC>agT p.S781S COAD 12 6705225 6705225 + Silent SNP C C T TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr12:6705225C>T c.1971G>A c.(1969-1971)gaG>gaA p.E657E COAD 12 6705263 6705263 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr12:6705263G>A c.1933C>T c.(1933-1935)Cgg>Tgg p.R645W COAD 12 6707237 6707237 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:6707237C>T c.1715G>A c.(1714-1716)cGa>cAa p.R572Q COAD 12 6707538 6707538 + Silent SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr12:6707538C>T c.1536G>A c.(1534-1536)caG>caA p.Q512Q COAD 12 6708992 6708992 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:6708992T>C c.1429A>G c.(1429-1431)Aat>Gat p.N477D COAD 12 6709009 6709009 + Missense_Mutation SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:6709009T>C c.1412A>G c.(1411-1413)tAc>tGc p.Y471C COAD 12 6709475 6709475 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:6709475G>T c.1150C>A c.(1150-1152)Ctg>Atg p.L384M COAD 12 6709724 6709724 + Nonsense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:6709724G>A c.1039C>T c.(1039-1041)Cga>Tga p.R347* COAD 12 6709787 6709787 + Missense_Mutation SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:6709787T>C c.976A>G c.(976-978)Atc>Gtc p.I326V COAD 12 6710555 6710555 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:6710555C>T c.699G>A c.(697-699)gcG>gcA p.A233A COAD 12 6710568 6710568 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr12:6710568G>A c.686C>T c.(685-687)gCg>gTg p.A229V COAD 12 6711147 6711147 + Missense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:6711147C>A c.417G>T c.(415-417)gaG>gaT p.E139D COADREAD 12 6680111 6680111 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:6680111G>A c.5645C>T c.(5644-5646)gCt>gTt p.A1882V COADREAD 12 6680121 6680121 + Missense_Mutation SNP G G C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:6680121G>C c.5635C>G c.(5635-5637)Ccc>Gcc p.P1879A COADREAD 12 6687281 6687281 + Silent SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:6687281A>G c.5142T>C c.(5140-5142)aaT>aaC p.N1714N COADREAD 12 6690530 6690530 + Frame_Shift_Del DEL T T - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:6690530delT c.4706delA c.(4705-4707)aatfs p.N1569fs COADREAD 12 6690894 6690894 + Silent SNP C C T TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr12:6690894C>T c.4602G>A c.(4600-4602)ggG>ggA p.G1534G COADREAD 12 6690896 6690896 + Missense_Mutation SNP C C A TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr12:6690896C>A c.4600G>T c.(4600-4602)Ggg>Tgg p.G1534W COADREAD 12 6690953 6690953 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:6690953G>A c.4543C>T c.(4543-4545)Cgc>Tgc p.R1515C COADREAD 12 6691409 6691409 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:6691409G>A c.4409C>T c.(4408-4410)cCg>cTg p.P1470L COADREAD 12 6691425 6691425 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:6691425G>A c.4393C>T c.(4393-4395)Cgg>Tgg p.R1465W COADREAD 12 6692034 6692034 + Missense_Mutation SNP G G C TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr12:6692034G>C c.4216C>G c.(4216-4218)Cgt>Ggt p.R1406G COADREAD 12 6692036 6692036 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:6692036G>A c.4214C>T c.(4213-4215)gCc>gTc p.A1405V COADREAD 12 6692038 6692039 + Frame_Shift_Ins INS - - A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:6692038_6692039insA c.4211_4212insT c.(4210-4212)ttgfs p.L1404fs COADREAD 12 6692269 6692269 + Silent SNP G G A TCGA-AG-4008-01A-01W-1073-09 TCGA-AG-4008-10A-01W-1073-09 g.chr12:6692269G>A c.4071C>T c.(4069-4071)gaC>gaT p.D1357D COADREAD 12 6692411 6692411 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:6692411C>A c.4013G>T c.(4012-4014)aGa>aTa p.R1338I COADREAD 12 6696607 6696607 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:6696607A>G c.3822T>C c.(3820-3822)aaT>aaC p.N1274N COADREAD 12 6696613 6696613 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr12:6696613G>A c.3816C>T c.(3814-3816)ggC>ggT p.G1272G COADREAD 12 6697051 6697051 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:6697051C>T c.3530G>A c.(3529-3531)cGt>cAt p.R1177H COADREAD 12 6697108 6697108 + Missense_Mutation SNP C C A TCGA-AG-4007-01A-01W-1073-09 TCGA-AG-4007-10A-01W-1073-09 g.chr12:6697108C>A c.3473G>T c.(3472-3474)aGc>aTc p.S1158I COADREAD 12 6697516 6697516 + Missense_Mutation SNP G G A TCGA-AG-3599-01A-02W-0833-10 TCGA-AG-3599-10A-01W-0833-10 g.chr12:6697516G>A c.3413C>T c.(3412-3414)gCt>gTt p.A1138V COADREAD 12 6700632 6700632 + Splice_Site SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:6700632C>T c.3340G>A c.(3340-3342)Gca>Aca p.A1114T COADREAD 12 6700638 6700638 + Missense_Mutation SNP A A G TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr12:6700638A>G c.3334T>C c.(3334-3336)Ttc>Ctc p.F1112L COADREAD 12 6700659 6700659 + Missense_Mutation SNP G G A TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr12:6700659G>A c.3313C>T c.(3313-3315)Cgg>Tgg p.R1105W COADREAD 12 6700689 6700689 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr12:6700689G>A c.3283C>T c.(3283-3285)Cgc>Tgc p.R1095C COADREAD 12 6700692 6700692 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:6700692C>T c.3280G>A c.(3280-3282)Gaa>Aaa p.E1094K COADREAD 12 6701197 6701197 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:6701197C>T c.2975G>A c.(2974-2976)cGa>cAa p.R992Q COADREAD 12 6701583 6701583 + Missense_Mutation SNP C C T TCGA-AA-3530-01A-01W-0995-10 TCGA-AA-3530-10A-01W-0995-10 g.chr12:6701583C>T c.2924G>A c.(2923-2925)cGt>cAt p.R975H COADREAD 12 6701583 6701583 + Missense_Mutation SNP C C T TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr12:6701583C>T c.2924G>A c.(2923-2925)cGt>cAt p.R975H COADREAD 12 6701669 6701669 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:6701669C>T c.2838G>A c.(2836-2838)ctG>ctA p.L946L COADREAD 12 6701672 6701672 + Frame_Shift_Del DEL T T - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:6701672delT c.2835delA c.(2833-2835)aaafs p.K945fs COADREAD 12 6702646 6702646 + Missense_Mutation SNP C C T TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr12:6702646C>T c.2450G>A c.(2449-2451)cGa>cAa p.R817Q COADREAD 12 6702753 6702753 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:6702753G>A c.2343C>T c.(2341-2343)agC>agT p.S781S COADREAD 12 6704571 6704571 + Nonsense_Mutation SNP G G A TCGA-AG-3594-01A-02W-0831-10 TCGA-AG-3594-10A-01W-0831-10 g.chr12:6704571G>A c.2050C>T c.(2050-2052)Cga>Tga p.R684* COADREAD 12 6705225 6705225 + Silent SNP C C T TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr12:6705225C>T c.1971G>A c.(1969-1971)gaG>gaA p.E657E COADREAD 12 6705263 6705263 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr12:6705263G>A c.1933C>T c.(1933-1935)Cgg>Tgg p.R645W COADREAD 12 6707237 6707237 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr12:6707237C>T c.1715G>A c.(1714-1716)cGa>cAa p.R572Q COADREAD 12 6707237 6707237 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:6707237C>T c.1715G>A c.(1714-1716)cGa>cAa p.R572Q COADREAD 12 6707538 6707538 + Silent SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr12:6707538C>T c.1536G>A c.(1534-1536)caG>caA p.Q512Q COADREAD 12 6708992 6708992 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:6708992T>C c.1429A>G c.(1429-1431)Aat>Gat p.N477D COADREAD 12 6709009 6709009 + Missense_Mutation SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:6709009T>C c.1412A>G c.(1411-1413)tAc>tGc p.Y471C COADREAD 12 6709475 6709475 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:6709475G>T c.1150C>A c.(1150-1152)Ctg>Atg p.L384M COADREAD 12 6709724 6709724 + Nonsense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:6709724G>A c.1039C>T c.(1039-1041)Cga>Tga p.R347* COADREAD 12 6709787 6709787 + Missense_Mutation SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:6709787T>C c.976A>G c.(976-978)Atc>Gtc p.I326V COADREAD 12 6710555 6710555 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:6710555C>T c.699G>A c.(697-699)gcG>gcA p.A233A COADREAD 12 6710568 6710568 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr12:6710568G>A c.686C>T c.(685-687)gCg>gTg p.A229V COADREAD 12 6711147 6711147 + Missense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:6711147C>A c.417G>T c.(415-417)gaG>gaT p.E139D DLBC 12 6702746 6702746 + Missense_Mutation SNP G G C TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr12:6702746G>C c.2350C>G c.(2350-2352)Ctt>Gtt p.L784V DLBC 12 6710854 6710854 + Nonsense_Mutation SNP G G A TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chr12:6710854G>A c.517C>T c.(517-519)Cga>Tga p.R173* ESCA 12 6682395 6682395 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr12:6682395C>T c.5402G>A c.(5401-5403)cGg>cAg p.R1801Q ESCA 12 6700898 6700898 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr12:6700898G>T c.3184C>A c.(3184-3186)Ctt>Att p.L1062I ESCA 12 6707388 6707388 + Splice_Site SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chr12:6707388C>T c.1686G>A c.(1684-1686)caG>caA p.Q562Q GBM 12 6691851 6691851 + Missense_Mutation SNP G G A TCGA-06-0644-01A-02D-1492-08 TCGA-06-0644-10A-01D-1492-08 g.chr12:6691851G>A c.4300C>T c.(4300-4302)Cca>Tca p.P1434S GBMLGG 12 6690297 6690297 + Missense_Mutation SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 g.chr12:6690297C>T c.4822G>A c.(4822-4824)Gtt>Att p.V1608I GBMLGG 12 6691851 6691851 + Missense_Mutation SNP G G A TCGA-06-0644-01A-02D-1492-08 TCGA-06-0644-10A-01D-1492-08 g.chr12:6691851G>A c.4300C>T c.(4300-4302)Cca>Tca p.P1434S GBMLGG 12 6700693 6700693 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:6700693G>A c.3279C>T c.(3277-3279)taC>taT p.Y1093Y GBMLGG 12 6701634 6701634 + Missense_Mutation SNP A A C TCGA-TQ-A7RN-01A-11D-A33T-08 TCGA-TQ-A7RN-10A-01D-A33W-08 g.chr12:6701634A>C c.2873T>G c.(2872-2874)cTc>cGc p.L958R GBMLGG 12 6701875 6701875 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 g.chr12:6701875G>A c.2761C>T c.(2761-2763)Ccc>Tcc p.P921S GBMLGG 12 6702687 6702687 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:6702687G>A c.2409C>T c.(2407-2409)gtC>gtT p.V803V GBMLGG 12 6702730 6702730 + Missense_Mutation SNP T T C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr12:6702730T>C c.2366A>G c.(2365-2367)aAc>aGc p.N789S GBMLGG 12 6711198 6711198 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:6711198A>G c.366T>C c.(364-366)ccT>ccC p.P122P HNSC 12 6680033 6680033 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:6680033A>G c.e39+1 HNSC 12 6687075 6687075 + Missense_Mutation SNP T T C TCGA-CV-A6JN-01A-11D-A31L-08 TCGA-CV-A6JN-10A-01D-A31J-08 g.chr12:6687075T>C c.5237A>G c.(5236-5238)tAt>tGt p.Y1746C HNSC 12 6688057 6688057 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr12:6688057C>T c.4936G>A c.(4936-4938)Gaa>Aaa p.E1646K HNSC 12 6690555 6690555 + Splice_Site SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr12:6690555C>G c.e32-1 HNSC 12 6690898 6690898 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 g.chr12:6690898G>A c.4598C>T c.(4597-4599)cCa>cTa p.P1533L HNSC 12 6690915 6690915 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr12:6690915G>C c.4581C>G c.(4579-4581)aaC>aaG p.N1527K HNSC 12 6691342 6691342 + Silent SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 g.chr12:6691342G>C c.4476C>G c.(4474-4476)gtC>gtG p.V1492V HNSC 12 6691446 6691446 + Splice_Site SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 g.chr12:6691446C>T c.4372G>A c.(4372-4374)Gca>Aca p.A1458T HNSC 12 6692098 6692098 + Silent SNP G G A TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr12:6692098G>A c.4152C>T c.(4150-4152)ccC>ccT p.P1384P HNSC 12 6692238 6692238 + Missense_Mutation SNP C C T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr12:6692238C>T c.4102G>A c.(4102-4104)Gtg>Atg p.V1368M HNSC 12 6692405 6692405 + Missense_Mutation SNP C C T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr12:6692405C>T c.4019G>A c.(4018-4020)cGt>cAt p.R1340H HNSC 12 6707098 6707098 + Frame_Shift_Del DEL T T - TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr12:6707098delT c.1854delA c.(1852-1854)aaafs p.K618fs HNSC 12 6707160 6707160 + Nonsense_Mutation SNP G G A TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr12:6707160G>A c.1792C>T c.(1792-1794)Cga>Tga p.R598* HNSC 12 6709458 6709458 + Silent SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr12:6709458G>T c.1167C>A c.(1165-1167)ccC>ccA p.P389P HNSC 12 6709459 6709459 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr12:6709459G>A c.1166C>T c.(1165-1167)cCc>cTc p.P389L HNSC 12 6709540 6709540 + Missense_Mutation SNP A A T TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr12:6709540A>T c.1085T>A c.(1084-1086)gTg>gAg p.V362E HNSC 12 6710853 6710853 + Missense_Mutation SNP C C T TCGA-BA-A6DL-01A-21D-A30E-08 TCGA-BA-A6DL-10A-01D-A30H-08 g.chr12:6710853C>T c.518G>A c.(517-519)cGa>cAa p.R173Q KICH 12 6701640 6701640 + Missense_Mutation SNP C C A TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr12:6701640C>A c.2867G>T c.(2866-2868)cGg>cTg p.R956L KICH 12 6702730 6702730 + Missense_Mutation SNP T T C TCGA-KO-8403-01A-11D-2310-10 TCGA-KO-8403-11A-01D-2311-10 g.chr12:6702730T>C c.2366A>G c.(2365-2367)aAc>aGc p.N789S KIPAN 12 6688041 6688041 + Missense_Mutation SNP T T G TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr12:6688041T>G c.4952A>C c.(4951-4953)gAt>gCt p.D1651A KIPAN 12 6690533 6690533 + Missense_Mutation SNP T T G TCGA-B0-5121-01A-02D-1421-08 TCGA-B0-5121-11A-01D-1421-08 g.chr12:6690533T>G c.4703A>C c.(4702-4704)gAa>gCa p.E1568A KIPAN 12 6690827 6690827 + Missense_Mutation SNP C C T TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr12:6690827C>T c.4669G>A c.(4669-4671)Gtc>Atc p.V1557I KIPAN 12 6701634 6701634 + Missense_Mutation SNP A A T TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chr12:6701634A>T c.2873T>A c.(2872-2874)cTc>cAc p.L958H KIPAN 12 6701640 6701640 + Missense_Mutation SNP C C A TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr12:6701640C>A c.2867G>T c.(2866-2868)cGg>cTg p.R956L KIPAN 12 6702730 6702730 + Missense_Mutation SNP T T C TCGA-KO-8403-01A-11D-2310-10 TCGA-KO-8403-11A-01D-2311-10 g.chr12:6702730T>C c.2366A>G c.(2365-2367)aAc>aGc p.N789S KIPAN 12 6707540 6707540 + Nonsense_Mutation SNP G G A TCGA-B1-5398-01A-02D-1589-08 TCGA-B1-5398-10A-01D-1589-08 g.chr12:6707540G>A c.1534C>T c.(1534-1536)Cag>Tag p.Q512* KIPAN 12 6710842 6710842 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:6710842T>C c.529A>G c.(529-531)Aac>Gac p.N177D KIPAN 12 6711561 6711561 + Missense_Mutation SNP C C G TCGA-DZ-6135-01A-11D-1961-08 TCGA-DZ-6135-10A-01D-1962-08 g.chr12:6711561C>G c.203G>C c.(202-204)aGc>aCc p.S68T KIRC 12 6688041 6688041 + Missense_Mutation SNP T T G TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr12:6688041T>G c.4952A>C c.(4951-4953)gAt>gCt p.D1651A KIRC 12 6690533 6690533 + Missense_Mutation SNP T T G TCGA-B0-5121-01A-02D-1421-08 TCGA-B0-5121-11A-01D-1421-08 g.chr12:6690533T>G c.4703A>C c.(4702-4704)gAa>gCa p.E1568A KIRC 12 6690827 6690827 + Missense_Mutation SNP C C T TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr12:6690827C>T c.4669G>A c.(4669-4671)Gtc>Atc p.V1557I KIRC 12 6701634 6701634 + Missense_Mutation SNP A A T TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chr12:6701634A>T c.2873T>A c.(2872-2874)cTc>cAc p.L958H KIRC 12 6710842 6710842 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:6710842T>C c.529A>G c.(529-531)Aac>Gac p.N177D KIRP 12 6707540 6707540 + Nonsense_Mutation SNP G G A TCGA-B1-5398-01A-02D-1589-08 TCGA-B1-5398-10A-01D-1589-08 g.chr12:6707540G>A c.1534C>T c.(1534-1536)Cag>Tag p.Q512* KIRP 12 6711561 6711561 + Missense_Mutation SNP C C G TCGA-DZ-6135-01A-11D-1961-08 TCGA-DZ-6135-10A-01D-1962-08 g.chr12:6711561C>G c.203G>C c.(202-204)aGc>aCc p.S68T LAML 12 6697064 6697064 + Missense_Mutation SNP G G A TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 g.chr12:6697064G>A c.3517C>T c.(3517-3519)Cgg>Tgg p.R1173W LAML 12 6701583 6701583 + Missense_Mutation SNP C C T TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 g.chr12:6701583C>T c.2924G>A c.(2923-2925)cGt>cAt p.R975H LGG 12 6690297 6690297 + Missense_Mutation SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 g.chr12:6690297C>T c.4822G>A c.(4822-4824)Gtt>Att p.V1608I LGG 12 6700693 6700693 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:6700693G>A c.3279C>T c.(3277-3279)taC>taT p.Y1093Y LGG 12 6701634 6701634 + Missense_Mutation SNP A A C TCGA-TQ-A7RN-01A-11D-A33T-08 TCGA-TQ-A7RN-10A-01D-A33W-08 g.chr12:6701634A>C c.2873T>G c.(2872-2874)cTc>cGc p.L958R LGG 12 6701875 6701875 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 g.chr12:6701875G>A c.2761C>T c.(2761-2763)Ccc>Tcc p.P921S LGG 12 6702687 6702687 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:6702687G>A c.2409C>T c.(2407-2409)gtC>gtT p.V803V LGG 12 6702730 6702730 + Missense_Mutation SNP T T C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr12:6702730T>C c.2366A>G c.(2365-2367)aAc>aGc p.N789S LGG 12 6711198 6711198 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:6711198A>G c.366T>C c.(364-366)ccT>ccC p.P122P LIHC 12 6682294 6682294 + Silent SNP G G A TCGA-2Y-A9GY-01A-11D-A382-10 TCGA-2Y-A9GY-10A-01D-A385-10 g.chr12:6682294G>A c.5503C>T c.(5503-5505)Ctg>Ttg p.L1835L LIHC 12 6692504 6692504 + Missense_Mutation SNP T T C TCGA-DD-A1EK-01A-11D-A20W-10 TCGA-DD-A1EK-10A-01D-A20W-10 g.chr12:6692504T>C c.3920A>G c.(3919-3921)gAa>gGa p.E1307G LIHC 12 6701152 6701152 + Missense_Mutation SNP G G A TCGA-RC-A7S9-01A-11D-A33Q-10 TCGA-RC-A7S9-10A-02D-A33Q-10 g.chr12:6701152G>A c.3020C>T c.(3019-3021)tCt>tTt p.S1007F LIHC 12 6701864 6701864 + Missense_Mutation SNP G G C TCGA-XR-A8TC-01A-11D-A35Z-10 TCGA-XR-A8TC-10A-01D-A35Z-10 g.chr12:6701864G>C c.2772C>G c.(2770-2772)ttC>ttG p.F924L LIHC 12 6703766 6703778 + Frame_Shift_Del DEL TCCACCTGTAGCA TCCACCTGTAGCA - TCGA-MI-A75C-01A-11D-A32G-10 TCGA-MI-A75C-10A-01D-A32G-10 g.chr12:6703766_6703778delTCCACCTGTAGCA c.2160_2172delTGCTACAGGTGGA c.(2158-2172)gatgctacaggtggafs p.DATGG720fs LIHC 12 6710565 6710565 + Missense_Mutation SNP G G A TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr12:6710565G>A c.689C>T c.(688-690)gCa>gTa p.A230V LIHC 12 6710863 6710863 + Nonsense_Mutation SNP C C A TCGA-2Y-A9H6-01A-11D-A38X-10 TCGA-2Y-A9H6-10A-01D-A38X-10 g.chr12:6710863C>A c.508G>T c.(508-510)Gag>Tag p.E170* LUAD 12 6680116 6680116 + Silent SNP T T G TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr12:6680116T>G c.5640A>C c.(5638-5640)ccA>ccC p.P1880P LUAD 12 6690314 6690314 + Missense_Mutation SNP G G A TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr12:6690314G>A c.4805C>T c.(4804-4806)tCa>tTa p.S1602L LUAD 12 6690315 6690315 + Missense_Mutation SNP A A G TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr12:6690315A>G c.4804T>C c.(4804-4806)Tca>Cca p.S1602P LUAD 12 6696924 6696924 + Silent SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr12:6696924G>C c.3657C>G c.(3655-3657)ctC>ctG p.L1219L LUAD 12 6697035 6697035 + Silent SNP C C T TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr12:6697035C>T c.3546G>A c.(3544-3546)gaG>gaA p.E1182E LUAD 12 6697099 6697099 + Missense_Mutation SNP T T C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 g.chr12:6697099T>C c.3482A>G c.(3481-3483)cAc>cGc p.H1161R LUAD 12 6697584 6697584 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr12:6697584C>A c.3345G>T c.(3343-3345)ccG>ccT p.P1115P LUAD 12 6702590 6702590 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr12:6702590G>A c.2506C>T c.(2506-2508)Cgc>Tgc p.R836C LUAD 12 6702648 6702648 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr12:6702648G>C c.2448C>G c.(2446-2448)atC>atG p.I816M LUAD 12 6702761 6702761 + Silent SNP G G A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr12:6702761G>A c.2335C>T c.(2335-2337)Cta>Tta p.L779L LUAD 12 6707148 6707148 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr12:6707148C>A c.1804G>T c.(1804-1806)Gac>Tac p.D602Y LUAD 12 6707248 6707248 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr12:6707248C>G c.1704G>C c.(1702-1704)caG>caC p.Q568H LUAD 12 6707253 6707253 + Missense_Mutation SNP A A G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr12:6707253A>G c.1699T>C c.(1699-1701)Tgt>Cgt p.C567R LUAD 12 6707449 6707449 + Missense_Mutation SNP T T G TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr12:6707449T>G c.1625A>C c.(1624-1626)cAg>cCg p.Q542P LUAD 12 6709016 6709016 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr12:6709016A>G c.1405T>C c.(1405-1407)Tct>Cct p.S469P LUAD 12 6709107 6709107 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr12:6709107C>A c.1314G>T c.(1312-1314)ggG>ggT p.G438G LUAD 12 6709382 6709382 + Splice_Site SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr12:6709382C>T c.e9+1 LUAD 12 6709529 6709529 + Missense_Mutation SNP C C G TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr12:6709529C>G c.1096G>C c.(1096-1098)Gag>Cag p.E366Q LUAD 12 6710494 6710494 + Nonsense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr12:6710494C>A c.760G>T c.(760-762)Gag>Tag p.E254* LUAD 12 6710533 6710533 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr12:6710533C>A c.721G>T c.(721-723)Gtg>Ttg p.V241L LUAD 12 6710617 6710617 + Missense_Mutation SNP T T C TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr12:6710617T>C c.637A>G c.(637-639)Agt>Ggt p.S213G LUAD 12 6711247 6711247 + Missense_Mutation SNP T T C TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr12:6711247T>C c.317A>G c.(316-318)gAg>gGg p.E106G LUSC 12 6690881 6690881 + Missense_Mutation SNP T T C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr12:6690881T>C c.4615A>G c.(4615-4617)Aaa>Gaa p.K1539E LUSC 12 6696654 6696654 + Missense_Mutation SNP C C G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr12:6696654C>G c.3775G>C c.(3775-3777)Gac>Cac p.D1259H LUSC 12 6696922 6696922 + Missense_Mutation SNP T T C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr12:6696922T>C c.3659A>G c.(3658-3660)aAa>aGa p.K1220R LUSC 12 6700653 6700653 + Missense_Mutation SNP C C G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr12:6700653C>G c.3319G>C c.(3319-3321)Gag>Cag p.E1107Q LUSC 12 6703658 6703658 + Missense_Mutation SNP C C G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr12:6703658C>G c.2280G>C c.(2278-2280)caG>caC p.Q760H LUSC 12 6703741 6703741 + Missense_Mutation SNP C C A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr12:6703741C>A c.2197G>T c.(2197-2199)Ggc>Tgc p.G733C LUSC 12 6707131 6707131 + Silent SNP C C T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr12:6707131C>T c.1821G>A c.(1819-1821)gaG>gaA p.E607E OV 12 6692033 6692033 + Missense_Mutation SNP C C A TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 g.chr12:6692033C>A c.4217G>T c.(4216-4218)cGt>cTt p.R1406L OV 12 6701183 6701183 + Missense_Mutation SNP G G A TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 g.chr12:6701183G>A c.2989C>T c.(2989-2991)Ctc>Ttc p.L997F OV 12 6701583 6701583 + Missense_Mutation SNP C C T TCGA-61-1741-01A-02W-0639-09 TCGA-61-1741-11A-01W-0639-09 g.chr12:6701583C>T c.2924G>A c.(2923-2925)cGt>cAt p.R975H OV 12 6704527 6704527 + Missense_Mutation SNP C C A TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 g.chr12:6704527C>A c.2094G>T c.(2092-2094)gaG>gaT p.E698D OV 12 6705263 6705263 + Missense_Mutation SNP G G C TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 g.chr12:6705263G>C c.1933C>G c.(1933-1935)Cgg>Ggg p.R645G OV 12 6707105 6707105 + Missense_Mutation SNP C C T TCGA-24-1422-01A-01W-0545-08 TCGA-24-1422-10A-01W-0545-08 g.chr12:6707105C>T c.1847G>A c.(1846-1848)gGg>gAg p.G616E OV 12 6710173 6710173 + Silent SNP A A G TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 g.chr12:6710173A>G c.846T>C c.(844-846)gaT>gaC p.D282D OV 12 6710554 6710554 + Missense_Mutation SNP C C A TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 g.chr12:6710554C>A c.700G>T c.(700-702)Gta>Tta p.V234L PAAD 12 6687287 6687287 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:6687287C>T c.5136G>A c.(5134-5136)tgG>tgA p.W1712* PAAD 12 6690899 6690899 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:6690899G>T c.4597C>A c.(4597-4599)Cca>Aca p.P1533T PAAD 12 6692545 6692545 + Splice_Site SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr12:6692545C>A c.e26-1 PAAD 12 6700658 6700658 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:6700658C>T c.3314G>A c.(3313-3315)cGg>cAg p.R1105Q PAAD 12 6701917 6701917 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:6701917T>G c.2719A>C c.(2719-2721)Aac>Cac p.N907H PAAD 12 6707221 6707221 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:6707221C>T c.1731G>A c.(1729-1731)aaG>aaA p.K577K PAAD 12 6715504 6715504 + Silent SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 g.chr12:6715504C>A c.36G>T c.(34-36)tcG>tcT p.S12S PRAD 12 6686950 6686950 + Splice_Site SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 g.chr12:6686950C>T c.e37+1 PRAD 12 6696651 6696651 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 g.chr12:6696651G>A c.3778C>T c.(3778-3780)Cgt>Tgt p.R1260C PRAD 12 6701672 6701672 + Frame_Shift_Del DEL T T - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr12:6701672delT c.2835delA c.(2833-2835)aaafs p.K945fs PRAD 12 6702291 6702291 + Missense_Mutation SNP T T C TCGA-J4-A83J-01A-11D-A364-08 TCGA-J4-A83J-10B-01D-A362-08 g.chr12:6702291T>C c.2618A>G c.(2617-2619)gAt>gGt p.D873G PRAD 12 6703665 6703665 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 g.chr12:6703665G>A c.2273C>T c.(2272-2274)aCt>aTt p.T758I PRAD 12 6710187 6710187 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:6710187G>T c.832C>A c.(832-834)Cct>Act p.P278T PRAD 12 6711128 6711128 + Missense_Mutation SNP T T C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 g.chr12:6711128T>C c.436A>G c.(436-438)Aag>Gag p.K146E PRAD 12 6711235 6711235 + Missense_Mutation SNP T T C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 g.chr12:6711235T>C c.329A>G c.(328-330)tAt>tGt p.Y110C READ 12 6690894 6690894 + Silent SNP C C T TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr12:6690894C>T c.4602G>A c.(4600-4602)ggG>ggA p.G1534G READ 12 6692269 6692269 + Silent SNP G G A TCGA-AG-4008-01A-01W-1073-09 TCGA-AG-4008-10A-01W-1073-09 g.chr12:6692269G>A c.4071C>T c.(4069-4071)gaC>gaT p.D1357D READ 12 6696613 6696613 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr12:6696613G>A c.3816C>T c.(3814-3816)ggC>ggT p.G1272G READ 12 6697108 6697108 + Missense_Mutation SNP C C A TCGA-AG-4007-01A-01W-1073-09 TCGA-AG-4007-10A-01W-1073-09 g.chr12:6697108C>A c.3473G>T c.(3472-3474)aGc>aTc p.S1158I READ 12 6697516 6697516 + Missense_Mutation SNP G G A TCGA-AG-3599-01A-02W-0833-10 TCGA-AG-3599-10A-01W-0833-10 g.chr12:6697516G>A c.3413C>T c.(3412-3414)gCt>gTt p.A1138V READ 12 6701197 6701197 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:6701197C>T c.2975G>A c.(2974-2976)cGa>cAa p.R992Q READ 12 6704571 6704571 + Nonsense_Mutation SNP G G A TCGA-AG-3594-01A-02W-0831-10 TCGA-AG-3594-10A-01W-0831-10 g.chr12:6704571G>A c.2050C>T c.(2050-2052)Cga>Tga p.R684* READ 12 6707237 6707237 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr12:6707237C>T c.1715G>A c.(1714-1716)cGa>cAa p.R572Q SARC 12 6692433 6692433 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:6692433G>A c.3991C>T c.(3991-3993)Cga>Tga p.R1331* SARC 12 6692434 6692434 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:6692434G>A c.3990C>T c.(3988-3990)gcC>gcT p.A1330A SKCM 12 6682350 6682350 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr12:6682350A>G c.5447T>C c.(5446-5448)aTg>aCg p.M1816T SKCM 12 6687654 6687654 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr12:6687654G>A c.5040C>T c.(5038-5040)ccC>ccT p.P1680P SKCM 12 6687655 6687655 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr12:6687655G>A c.5039C>T c.(5038-5040)cCc>cTc p.P1680L SKCM 12 6690229 6690229 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr12:6690229A>G c.4890T>C c.(4888-4890)ccT>ccC p.P1630P SKCM 12 6690874 6690874 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr12:6690874G>A c.4622C>T c.(4621-4623)cCt>cTt p.P1541L SKCM 12 6690903 6690903 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr12:6690903G>A c.4593C>T c.(4591-4593)tcC>tcT p.S1531S SKCM 12 6691339 6691339 + Silent SNP A A G TCGA-FS-A1Z7-06A-11D-A197-08 TCGA-FS-A1Z7-10A-01D-A199-08 g.chr12:6691339A>G c.4479T>C c.(4477-4479)ctT>ctC p.L1493L SKCM 12 6691438 6691438 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr12:6691438G>A c.4380C>T c.(4378-4380)gtC>gtT p.V1460V SKCM 12 6692060 6692060 + Missense_Mutation SNP T T A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:6692060T>A c.4190A>T c.(4189-4191)gAt>gTt p.D1397V SKCM 12 6692231 6692231 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr12:6692231G>A c.4109C>T c.(4108-4110)tCa>tTa p.S1370L SKCM 12 6692249 6692249 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:6692249G>A c.4091C>T c.(4090-4092)tCc>tTc p.S1364F SKCM 12 6697065 6697065 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr12:6697065G>A c.3516C>T c.(3514-3516)taC>taT p.Y1172Y SKCM 12 6700684 6700684 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:6700684G>A c.3288C>T c.(3286-3288)atC>atT p.I1096I SKCM 12 6700880 6700880 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:6700880G>A c.3202C>T c.(3202-3204)Cgt>Tgt p.R1068C SKCM 12 6700892 6700892 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr12:6700892C>T c.3190G>A c.(3190-3192)Gag>Aag p.E1064K SKCM 12 6700950 6700950 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:6700950G>A c.3132C>T c.(3130-3132)gcC>gcT p.A1044A SKCM 12 6701628 6701628 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr12:6701628G>A c.2879C>T c.(2878-2880)gCc>gTc p.A960V SKCM 12 6701683 6701683 + Nonsense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr12:6701683G>A c.2824C>T c.(2824-2826)Cag>Tag p.Q942* SKCM 12 6701684 6701684 + Silent SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr12:6701684G>A c.2823C>T c.(2821-2823)gaC>gaT p.D941D SKCM 12 6702265 6702265 + Nonsense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr12:6702265G>A c.2644C>T c.(2644-2646)Cag>Tag p.Q882* SKCM 12 6702357 6702357 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr12:6702357G>A c.2552C>T c.(2551-2553)tCc>tTc p.S851F SKCM 12 6702381 6702381 + Missense_Mutation SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr12:6702381A>G c.2528T>C c.(2527-2529)gTg>gCg p.V843A SKCM 12 6702615 6702615 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:6702615G>A c.2481C>T c.(2479-2481)gcC>gcT p.A827A SKCM 12 6702774 6702774 + Silent SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr12:6702774G>A c.2322C>T c.(2320-2322)tcC>tcT p.S774S SKCM 12 6703773 6703773 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr12:6703773G>A c.2165C>T c.(2164-2166)aCa>aTa p.T722I SKCM 12 6705212 6705212 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr12:6705212G>A c.1984C>T c.(1984-1986)Cag>Tag p.Q662* SKCM 12 6705270 6705270 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:6705270G>A c.1926C>T c.(1924-1926)atC>atT p.I642I SKCM 12 6705279 6705279 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 g.chr12:6705279G>A c.1917C>T c.(1915-1917)caC>caT p.H639H SKCM 12 6707398 6707398 + Missense_Mutation SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr12:6707398G>A c.1676C>T c.(1675-1677)tCt>tTt p.S559F SKCM 12 6707587 6707587 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr12:6707587G>A c.1487C>T c.(1486-1488)cCa>cTa p.P496L SKCM 12 6709001 6709001 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr12:6709001G>A c.1420C>T c.(1420-1422)Cac>Tac p.H474Y SKCM 12 6709724 6709724 + Nonsense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr12:6709724G>A c.1039C>T c.(1039-1041)Cga>Tga p.R347* SKCM 12 6709742 6709742 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:6709742G>A c.1021C>T c.(1021-1023)Cgc>Tgc p.R341C SKCM 12 6709743 6709743 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:6709743G>A c.1020C>T c.(1018-1020)agC>agT p.S340S SKCM 12 6710657 6710657 + Silent SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr12:6710657G>T c.597C>A c.(595-597)tcC>tcA p.S199S SKCM 12 6710877 6710877 + Missense_Mutation SNP T T A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr12:6710877T>A c.494A>T c.(493-495)cAc>cTc p.H165L SKCM 12 6715448 6715448 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr12:6715448G>A c.92C>T c.(91-93)cCc>cTc p.P31L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 6682281 6682281 single base substitution G C stop_gained S1832* 5495C>G BLCA-CN 12 6682281 6682281 single base substitution G C stop_gained S1839* 5516C>G BLCA-CN 12 6682281 6682281 single base substitution G C stop_gained S1864* 5591C>G BLCA-CN 12 6682281 6682281 single base substitution G C stop_gained S1867* 5600C>G BLCA-CN 12 6682281 6682281 single base substitution G C upstream_gene_variant BLCA-CN 12 6682360 6682360 single base substitution G A missense_variant H1806Y 5416C>T BLCA-CN 12 6682360 6682360 single base substitution G A missense_variant H1813Y 5437C>T BLCA-CN 12 6682360 6682360 single base substitution G A missense_variant H1838Y 5512C>T BLCA-CN 12 6682360 6682360 single base substitution G A missense_variant H1841Y 5521C>T BLCA-CN 12 6682360 6682360 single base substitution G A upstream_gene_variant BLCA-CN 12 6700667 6700667 single base substitution C T downstream_gene_variant BLCA-CN 12 6700667 6700667 single base substitution C T exon_variant BLCA-CN 12 6700667 6700667 single base substitution C T intron_variant BLCA-CN 12 6700667 6700667 single base substitution C T missense_variant G1095E 3284G>A BLCA-CN 12 6700667 6700667 single base substitution C T missense_variant G1099E 3296G>A BLCA-CN 12 6700667 6700667 single base substitution C T missense_variant G1102E 3305G>A BLCA-CN 12 6700667 6700667 single base substitution C T upstream_gene_variant BLCA-US 12 6675398 6675398 single base substitution C A downstream_gene_variant BLCA-US 12 6675746 6675746 single base substitution T C downstream_gene_variant BLCA-US 12 6680126 6680126 single base substitution C T exon_variant BLCA-US 12 6680126 6680126 single base substitution C T missense_variant R1870Q 5609G>A BLCA-US 12 6680126 6680126 single base substitution C T missense_variant R1877Q 5630G>A BLCA-US 12 6680126 6680126 single base substitution C T missense_variant R1902Q 5705G>A BLCA-US 12 6680126 6680126 single base substitution C T missense_variant R1905Q 5714G>A BLCA-US 12 6686986 6686986 single base substitution C G downstream_gene_variant BLCA-US 12 6686986 6686986 single base substitution C G missense_variant E1769Q 5305G>C BLCA-US 12 6686986 6686986 single base substitution C G missense_variant E1776Q 5326G>C BLCA-US 12 6686986 6686986 single base substitution C G missense_variant E1801Q 5401G>C BLCA-US 12 6686986 6686986 single base substitution C G missense_variant E1804Q 5410G>C BLCA-US 12 6690250 6690250 single base substitution C G downstream_gene_variant BLCA-US 12 6690250 6690250 single base substitution C G exon_variant BLCA-US 12 6690250 6690250 single base substitution C G synonymous_variant V1616V 4848G>C BLCA-US 12 6690250 6690250 single base substitution C G synonymous_variant V1623V 4869G>C BLCA-US 12 6690250 6690250 single base substitution C G synonymous_variant V1648V 4944G>C BLCA-US 12 6690250 6690250 single base substitution C G synonymous_variant V1651V 4953G>C BLCA-US 12 6690875 6690875 single base substitution G C downstream_gene_variant BLCA-US 12 6690875 6690875 single base substitution G C intron_variant BLCA-US 12 6690875 6690875 single base substitution G C missense_variant P1534A 4600C>G BLCA-US 12 6690875 6690875 single base substitution G C missense_variant P1541A 4621C>G BLCA-US 12 6690875 6690875 single base substitution G C missense_variant P1566A 4696C>G BLCA-US 12 6690875 6690875 single base substitution G C missense_variant P1569A 4705C>G BLCA-US 12 6690875 6690875 single base substitution G C upstream_gene_variant BLCA-US 12 6691413 6691413 single base substitution C G exon_variant BLCA-US 12 6691413 6691413 single base substitution C G intron_variant BLCA-US 12 6691413 6691413 single base substitution C G missense_variant E1462Q 4384G>C BLCA-US 12 6691413 6691413 single base substitution C G missense_variant E1469Q 4405G>C BLCA-US 12 6691413 6691413 single base substitution C G missense_variant E1494Q 4480G>C BLCA-US 12 6691413 6691413 single base substitution C G missense_variant E1497Q 4489G>C BLCA-US 12 6691413 6691413 single base substitution C G upstream_gene_variant BLCA-US 12 6692090 6692090 single base substitution G A exon_variant BLCA-US 12 6692090 6692090 single base substitution G A intron_variant BLCA-US 12 6692090 6692090 single base substitution G A missense_variant P1380L 4139C>T BLCA-US 12 6692090 6692090 single base substitution G A missense_variant P1387L 4160C>T BLCA-US 12 6692090 6692090 single base substitution G A missense_variant P1412L 4235C>T BLCA-US 12 6692090 6692090 single base substitution G A missense_variant P1415L 4244C>T BLCA-US 12 6692090 6692090 single base substitution G A upstream_gene_variant BLCA-US 12 6692229 6692229 single base substitution C G exon_variant BLCA-US 12 6692229 6692229 single base substitution C G intron_variant BLCA-US 12 6692229 6692229 single base substitution C G missense_variant E1364Q 4090G>C BLCA-US 12 6692229 6692229 single base substitution C G missense_variant E1371Q 4111G>C BLCA-US 12 6692229 6692229 single base substitution C G missense_variant E1396Q 4186G>C BLCA-US 12 6692229 6692229 single base substitution C G missense_variant E1399Q 4195G>C BLCA-US 12 6692229 6692229 single base substitution C G upstream_gene_variant BLCA-US 12 6692427 6692427 single base substitution G C exon_variant BLCA-US 12 6692427 6692427 single base substitution G C intron_variant BLCA-US 12 6692427 6692427 single base substitution G C missense_variant L1326V 3976C>G BLCA-US 12 6692427 6692427 single base substitution G C missense_variant L1330V 3988C>G BLCA-US 12 6692427 6692427 single base substitution G C missense_variant L1333V 3997C>G BLCA-US 12 6692427 6692427 single base substitution G C upstream_gene_variant BLCA-US 12 6692529 6692529 single base substitution C G exon_variant BLCA-US 12 6692529 6692529 single base substitution C G intron_variant BLCA-US 12 6692529 6692529 single base substitution C G missense_variant E1292Q 3874G>C BLCA-US 12 6692529 6692529 single base substitution C G missense_variant E1296Q 3886G>C BLCA-US 12 6692529 6692529 single base substitution C G missense_variant E1299Q 3895G>C BLCA-US 12 6692529 6692529 single base substitution C G upstream_gene_variant BLCA-US 12 6700750 6700750 single base substitution C T downstream_gene_variant BLCA-US 12 6700750 6700750 single base substitution C T exon_variant BLCA-US 12 6700750 6700750 single base substitution C T splice_acceptor_variant BLCA-US 12 6700750 6700750 single base substitution C T upstream_gene_variant BLCA-US 12 6703629 6703629 single base substitution T C downstream_gene_variant BLCA-US 12 6703629 6703629 single base substitution T C missense_variant K763R 2288A>G BLCA-US 12 6703629 6703629 single base substitution T C missense_variant K767R 2300A>G BLCA-US 12 6703629 6703629 single base substitution T C missense_variant K770R 2309A>G BLCA-US 12 6703629 6703629 single base substitution T C upstream_gene_variant BLCA-US 12 6705273 6705273 single base substitution C G downstream_gene_variant BLCA-US 12 6705273 6705273 single base substitution C G exon_variant BLCA-US 12 6705273 6705273 single base substitution C G missense_variant L634F 1902G>C BLCA-US 12 6705273 6705273 single base substitution C G missense_variant L638F 1914G>C BLCA-US 12 6705273 6705273 single base substitution C G missense_variant L641F 1923G>C BLCA-US 12 6705273 6705273 single base substitution C G upstream_gene_variant BLCA-US 12 6705294 6705294 single base substitution C G downstream_gene_variant BLCA-US 12 6705294 6705294 single base substitution C G exon_variant BLCA-US 12 6705294 6705294 single base substitution C G missense_variant K627N 1881G>C BLCA-US 12 6705294 6705294 single base substitution C G missense_variant K631N 1893G>C BLCA-US 12 6705294 6705294 single base substitution C G missense_variant K634N 1902G>C BLCA-US 12 6705294 6705294 single base substitution C G upstream_gene_variant BLCA-US 12 6707456 6707456 single base substitution C T downstream_gene_variant BLCA-US 12 6707456 6707456 single base substitution C T missense_variant E533K 1597G>A BLCA-US 12 6707456 6707456 single base substitution C T missense_variant E537K 1609G>A BLCA-US 12 6707456 6707456 single base substitution C T missense_variant E540K 1618G>A BLCA-US 12 6707456 6707456 single base substitution C T upstream_gene_variant BLCA-US 12 6710690 6710690 single base substitution G T downstream_gene_variant BLCA-US 12 6710690 6710690 single base substitution G T synonymous_variant L181L 543C>A BLCA-US 12 6710690 6710690 single base substitution G T synonymous_variant L185L 555C>A BLCA-US 12 6710690 6710690 single base substitution G T synonymous_variant L188L 564C>A BLCA-US 12 6710690 6710690 single base substitution G T upstream_gene_variant BRCA-EU 12 6674692 6674692 single base substitution G A downstream_gene_variant BRCA-EU 12 6675511 6675511 single base substitution T C downstream_gene_variant BRCA-EU 12 6675836 6675836 single base substitution G C downstream_gene_variant BRCA-EU 12 6677393 6677393 single base substitution G A downstream_gene_variant BRCA-EU 12 6677775 6677775 single base substitution C T downstream_gene_variant BRCA-EU 12 6678043 6678043 single base substitution C T downstream_gene_variant BRCA-EU 12 6679488 6679488 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 6679488 6679488 single base substitution C G downstream_gene_variant BRCA-EU 12 6683187 6683187 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 6683187 6683187 deletion of <=200bp A - intron_variant BRCA-EU 12 6683187 6683187 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 6683343 6683343 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 6683343 6683343 insertion of <=200bp - T intron_variant BRCA-EU 12 6683343 6683343 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 6684308 6684308 single base substitution C G downstream_gene_variant BRCA-EU 12 6684308 6684308 single base substitution C G intron_variant BRCA-EU 12 6684308 6684308 single base substitution C G upstream_gene_variant BRCA-EU 12 6684464 6684464 single base substitution A T downstream_gene_variant BRCA-EU 12 6684464 6684464 single base substitution A T intron_variant BRCA-EU 12 6684464 6684464 single base substitution A T upstream_gene_variant BRCA-EU 12 6684831 6684831 single base substitution T C downstream_gene_variant BRCA-EU 12 6684831 6684831 single base substitution T C intron_variant BRCA-EU 12 6684831 6684831 single base substitution T C upstream_gene_variant BRCA-EU 12 6686090 6686090 single base substitution C T downstream_gene_variant BRCA-EU 12 6686090 6686090 single base substitution C T intron_variant BRCA-EU 12 6687654 6687654 single base substitution G A downstream_gene_variant BRCA-EU 12 6687654 6687654 single base substitution G A synonymous_variant P1673P 5019C>T BRCA-EU 12 6687654 6687654 single base substitution G A synonymous_variant P1680P 5040C>T BRCA-EU 12 6687654 6687654 single base substitution G A synonymous_variant P1705P 5115C>T BRCA-EU 12 6687654 6687654 single base substitution G A synonymous_variant P1708P 5124C>T BRCA-EU 12 6688507 6688507 single base substitution A T downstream_gene_variant BRCA-EU 12 6688507 6688507 single base substitution A T intron_variant BRCA-EU 12 6689173 6689173 single base substitution G A downstream_gene_variant BRCA-EU 12 6689173 6689173 single base substitution G A intron_variant BRCA-EU 12 6691352 6691352 single base substitution C T exon_variant BRCA-EU 12 6691352 6691352 single base substitution C T intron_variant BRCA-EU 12 6691352 6691352 single base substitution C T missense_variant R1482H 4445G>A BRCA-EU 12 6691352 6691352 single base substitution C T missense_variant R1489H 4466G>A BRCA-EU 12 6691352 6691352 single base substitution C T missense_variant R1514H 4541G>A BRCA-EU 12 6691352 6691352 single base substitution C T missense_variant R1517H 4550G>A BRCA-EU 12 6691352 6691352 single base substitution C T upstream_gene_variant BRCA-EU 12 6691781 6691798 deletion of <=200bp TTGAACTCTTTCTCTGAT - intron_variant BRCA-EU 12 6691781 6691798 deletion of <=200bp TTGAACTCTTTCTCTGAT - splice_region_variant BRCA-EU 12 6691781 6691798 deletion of <=200bp TTGAACTCTTTCTCTGAT - upstream_gene_variant BRCA-EU 12 6692417 6692417 single base substitution C T exon_variant BRCA-EU 12 6692417 6692417 single base substitution C T intron_variant BRCA-EU 12 6692417 6692417 single base substitution C T missense_variant G1329E 3986G>A BRCA-EU 12 6692417 6692417 single base substitution C T missense_variant G1333E 3998G>A BRCA-EU 12 6692417 6692417 single base substitution C T missense_variant G1336E 4007G>A BRCA-EU 12 6692417 6692417 single base substitution C T upstream_gene_variant BRCA-EU 12 6694728 6694728 single base substitution G A intron_variant BRCA-EU 12 6694728 6694728 single base substitution G A upstream_gene_variant BRCA-EU 12 6696235 6696235 single base substitution C G downstream_gene_variant BRCA-EU 12 6696235 6696235 single base substitution C G intron_variant BRCA-EU 12 6696264 6696264 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 6696264 6696264 deletion of <=200bp C - intron_variant BRCA-EU 12 6696548 6696548 single base substitution A T downstream_gene_variant BRCA-EU 12 6696548 6696548 single base substitution A T intron_variant BRCA-EU 12 6696548 6696548 single base substitution A T splice_donor_variant BRCA-EU 12 6696589 6696589 single base substitution G C downstream_gene_variant BRCA-EU 12 6696589 6696589 single base substitution G C exon_variant BRCA-EU 12 6696589 6696589 single base substitution G C intron_variant BRCA-EU 12 6696589 6696589 single base substitution G C missense_variant F1273L 3819C>G BRCA-EU 12 6696589 6696589 single base substitution G C missense_variant F1277L 3831C>G BRCA-EU 12 6696589 6696589 single base substitution G C missense_variant F1280L 3840C>G BRCA-EU 12 6696633 6696633 single base substitution C T downstream_gene_variant BRCA-EU 12 6696633 6696633 single base substitution C T exon_variant BRCA-EU 12 6696633 6696633 single base substitution C T intron_variant BRCA-EU 12 6696633 6696633 single base substitution C T missense_variant E1259K 3775G>A BRCA-EU 12 6696633 6696633 single base substitution C T missense_variant E1263K 3787G>A BRCA-EU 12 6696633 6696633 single base substitution C T missense_variant E1266K 3796G>A BRCA-EU 12 6697804 6697804 single base substitution C T downstream_gene_variant BRCA-EU 12 6697804 6697804 single base substitution C T intron_variant BRCA-EU 12 6697804 6697804 single base substitution C T upstream_gene_variant BRCA-EU 12 6700634 6700634 single base substitution T C downstream_gene_variant BRCA-EU 12 6700634 6700634 single base substitution T C exon_variant BRCA-EU 12 6700634 6700634 single base substitution T C intron_variant BRCA-EU 12 6700634 6700634 single base substitution T C missense_variant N1106S 3317A>G BRCA-EU 12 6700634 6700634 single base substitution T C missense_variant N1110S 3329A>G BRCA-EU 12 6700634 6700634 single base substitution T C missense_variant N1113S 3338A>G BRCA-EU 12 6700634 6700634 single base substitution T C upstream_gene_variant BRCA-EU 12 6701583 6701583 single base substitution C A downstream_gene_variant BRCA-EU 12 6701583 6701583 single base substitution C A exon_variant BRCA-EU 12 6701583 6701583 single base substitution C A missense_variant R968L 2903G>T BRCA-EU 12 6701583 6701583 single base substitution C A missense_variant R972L 2915G>T BRCA-EU 12 6701583 6701583 single base substitution C A missense_variant R975L 2924G>T BRCA-EU 12 6701583 6701583 single base substitution C A upstream_gene_variant BRCA-EU 12 6701942 6701942 single base substitution C A downstream_gene_variant BRCA-EU 12 6701942 6701942 single base substitution C A synonymous_variant L891L 2673G>T BRCA-EU 12 6701942 6701942 single base substitution C A synonymous_variant L895L 2685G>T BRCA-EU 12 6701942 6701942 single base substitution C A synonymous_variant L898L 2694G>T BRCA-EU 12 6701942 6701942 single base substitution C A upstream_gene_variant BRCA-EU 12 6702644 6702644 single base substitution C T downstream_gene_variant BRCA-EU 12 6702644 6702644 single base substitution C T missense_variant E811K 2431G>A BRCA-EU 12 6702644 6702644 single base substitution C T missense_variant E815K 2443G>A BRCA-EU 12 6702644 6702644 single base substitution C T missense_variant E818K 2452G>A BRCA-EU 12 6702644 6702644 single base substitution C T upstream_gene_variant BRCA-EU 12 6702646 6702646 single base substitution C T downstream_gene_variant BRCA-EU 12 6702646 6702646 single base substitution C T missense_variant R810Q 2429G>A BRCA-EU 12 6702646 6702646 single base substitution C T missense_variant R814Q 2441G>A BRCA-EU 12 6702646 6702646 single base substitution C T missense_variant R817Q 2450G>A BRCA-EU 12 6702646 6702646 single base substitution C T upstream_gene_variant BRCA-EU 12 6702888 6702888 single base substitution C T downstream_gene_variant BRCA-EU 12 6702888 6702888 single base substitution C T intron_variant BRCA-EU 12 6702888 6702888 single base substitution C T upstream_gene_variant BRCA-EU 12 6703542 6703542 single base substitution C T downstream_gene_variant BRCA-EU 12 6703542 6703542 single base substitution C T intron_variant BRCA-EU 12 6703542 6703542 single base substitution C T upstream_gene_variant BRCA-EU 12 6703681 6703681 single base substitution T C downstream_gene_variant BRCA-EU 12 6703681 6703681 single base substitution T C missense_variant M746V 2236A>G BRCA-EU 12 6703681 6703681 single base substitution T C missense_variant M750V 2248A>G BRCA-EU 12 6703681 6703681 single base substitution T C missense_variant M753V 2257A>G BRCA-EU 12 6703681 6703681 single base substitution T C upstream_gene_variant BRCA-EU 12 6703684 6703684 single base substitution C T downstream_gene_variant BRCA-EU 12 6703684 6703684 single base substitution C T missense_variant E745K 2233G>A BRCA-EU 12 6703684 6703684 single base substitution C T missense_variant E749K 2245G>A BRCA-EU 12 6703684 6703684 single base substitution C T missense_variant E752K 2254G>A BRCA-EU 12 6703684 6703684 single base substitution C T upstream_gene_variant BRCA-EU 12 6706435 6706435 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 6706435 6706435 insertion of <=200bp - A intron_variant BRCA-EU 12 6706435 6706435 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 6707082 6707082 single base substitution T C downstream_gene_variant BRCA-EU 12 6707082 6707082 single base substitution T C exon_variant BRCA-EU 12 6707082 6707082 single base substitution T C missense_variant I617V 1849A>G BRCA-EU 12 6707082 6707082 single base substitution T C missense_variant I621V 1861A>G BRCA-EU 12 6707082 6707082 single base substitution T C missense_variant I624V 1870A>G BRCA-EU 12 6707227 6707227 single base substitution C T downstream_gene_variant BRCA-EU 12 6707227 6707227 single base substitution C T synonymous_variant Q568Q 1704G>A BRCA-EU 12 6707227 6707227 single base substitution C T synonymous_variant Q572Q 1716G>A BRCA-EU 12 6707227 6707227 single base substitution C T synonymous_variant Q575Q 1725G>A BRCA-EU 12 6707227 6707227 single base substitution C T upstream_gene_variant BRCA-EU 12 6707561 6707561 insertion of <=200bp - TCT downstream_gene_variant BRCA-EU 12 6707561 6707561 insertion of <=200bp - TCT inframe_insertion I498KI BRCA-EU 12 6707561 6707561 insertion of <=200bp - TCT inframe_insertion I502KI BRCA-EU 12 6707561 6707561 insertion of <=200bp - TCT inframe_insertion I505KI BRCA-EU 12 6707561 6707561 insertion of <=200bp - TCT upstream_gene_variant BRCA-EU 12 6708162 6708162 single base substitution T C downstream_gene_variant BRCA-EU 12 6708162 6708162 single base substitution T C intron_variant BRCA-EU 12 6708162 6708162 single base substitution T C upstream_gene_variant BRCA-EU 12 6709888 6709888 single base substitution G C downstream_gene_variant BRCA-EU 12 6709888 6709888 single base substitution G C intron_variant BRCA-EU 12 6709888 6709888 single base substitution G C upstream_gene_variant BRCA-EU 12 6709929 6709929 single base substitution A T downstream_gene_variant BRCA-EU 12 6709929 6709929 single base substitution A T intron_variant BRCA-EU 12 6709929 6709929 single base substitution A T upstream_gene_variant BRCA-EU 12 6710087 6710087 single base substitution C G downstream_gene_variant BRCA-EU 12 6710087 6710087 single base substitution C G intron_variant BRCA-EU 12 6710087 6710087 single base substitution C G splice_region_variant BRCA-EU 12 6710087 6710087 single base substitution C G upstream_gene_variant BRCA-EU 12 6711643 6711643 single base substitution C G exon_variant BRCA-EU 12 6711643 6711643 single base substitution C G missense_variant E38Q 112G>C BRCA-EU 12 6711643 6711643 single base substitution C G missense_variant E41Q 121G>C BRCA-EU 12 6711643 6711643 single base substitution C G upstream_gene_variant BRCA-EU 12 6712123 6712123 single base substitution C A exon_variant BRCA-EU 12 6712123 6712123 single base substitution C A intron_variant BRCA-EU 12 6712123 6712123 single base substitution C A upstream_gene_variant BRCA-EU 12 6712477 6712477 single base substitution G C intron_variant BRCA-EU 12 6712477 6712477 single base substitution G C upstream_gene_variant BRCA-EU 12 6712643 6712643 single base substitution C A intron_variant BRCA-EU 12 6712643 6712643 single base substitution C A upstream_gene_variant BRCA-EU 12 6714165 6714165 single base substitution C T intron_variant BRCA-EU 12 6714165 6714165 single base substitution C T upstream_gene_variant BRCA-EU 12 6714230 6714230 single base substitution A G intron_variant BRCA-EU 12 6714230 6714230 single base substitution A G upstream_gene_variant BRCA-EU 12 6715763 6715763 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 6715763 6715763 single base substitution C T intron_variant BRCA-EU 12 6715763 6715763 single base substitution C T upstream_gene_variant BRCA-EU 12 6720381 6720381 single base substitution C T upstream_gene_variant BRCA-EU 12 6720825 6720825 single base substitution T G upstream_gene_variant BRCA-FR 12 6684077 6684077 single base substitution C T downstream_gene_variant BRCA-FR 12 6684077 6684077 single base substitution C T intron_variant BRCA-FR 12 6684077 6684077 single base substitution C T upstream_gene_variant BRCA-FR 12 6696589 6696589 single base substitution G C downstream_gene_variant BRCA-FR 12 6696589 6696589 single base substitution G C exon_variant BRCA-FR 12 6696589 6696589 single base substitution G C intron_variant BRCA-FR 12 6696589 6696589 single base substitution G C missense_variant F1273L 3819C>G BRCA-FR 12 6696589 6696589 single base substitution G C missense_variant F1277L 3831C>G BRCA-FR 12 6696589 6696589 single base substitution G C missense_variant F1280L 3840C>G BRCA-FR 12 6711643 6711643 single base substitution C G exon_variant BRCA-FR 12 6711643 6711643 single base substitution C G missense_variant E38Q 112G>C BRCA-FR 12 6711643 6711643 single base substitution C G missense_variant E41Q 121G>C BRCA-FR 12 6711643 6711643 single base substitution C G upstream_gene_variant BRCA-FR 12 6712123 6712123 single base substitution C A exon_variant BRCA-FR 12 6712123 6712123 single base substitution C A intron_variant BRCA-FR 12 6712123 6712123 single base substitution C A upstream_gene_variant BRCA-FR 12 6720825 6720825 single base substitution T G upstream_gene_variant BRCA-UK 12 6675511 6675511 single base substitution T C downstream_gene_variant BRCA-UK 12 6678099 6678099 single base substitution A T downstream_gene_variant BRCA-UK 12 6680176 6680176 single base substitution C G exon_variant BRCA-UK 12 6680176 6680176 single base substitution C G synonymous_variant L1853L 5559G>C BRCA-UK 12 6680176 6680176 single base substitution C G synonymous_variant L1860L 5580G>C BRCA-UK 12 6680176 6680176 single base substitution C G synonymous_variant L1885L 5655G>C BRCA-UK 12 6680176 6680176 single base substitution C G synonymous_variant L1888L 5664G>C BRCA-UK 12 6688343 6688343 single base substitution C T downstream_gene_variant BRCA-UK 12 6688343 6688343 single base substitution C T intron_variant BRCA-US 12 6676997 6676997 single base substitution T C downstream_gene_variant BRCA-US 12 6677049 6677049 single base substitution C T downstream_gene_variant BRCA-US 12 6677069 6677069 single base substitution C G downstream_gene_variant BRCA-US 12 6680152 6680152 single base substitution C T exon_variant BRCA-US 12 6680152 6680152 single base substitution C T synonymous_variant V1861V 5583G>A BRCA-US 12 6680152 6680152 single base substitution C T synonymous_variant V1868V 5604G>A BRCA-US 12 6680152 6680152 single base substitution C T synonymous_variant V1893V 5679G>A BRCA-US 12 6680152 6680152 single base substitution C T synonymous_variant V1896V 5688G>A BRCA-US 12 6680157 6680157 single base substitution C T exon_variant BRCA-US 12 6680157 6680157 single base substitution C T missense_variant D1860N 5578G>A BRCA-US 12 6680157 6680157 single base substitution C T missense_variant D1867N 5599G>A BRCA-US 12 6680157 6680157 single base substitution C T missense_variant D1892N 5674G>A BRCA-US 12 6680157 6680157 single base substitution C T missense_variant D1895N 5683G>A BRCA-US 12 6688060 6688060 single base substitution C A downstream_gene_variant BRCA-US 12 6688060 6688060 single base substitution C A exon_variant BRCA-US 12 6688060 6688060 single base substitution C A stop_gained E1638* 4912G>T BRCA-US 12 6688060 6688060 single base substitution C A stop_gained E1645* 4933G>T BRCA-US 12 6688060 6688060 single base substitution C A stop_gained E1670* 5008G>T BRCA-US 12 6688060 6688060 single base substitution C A stop_gained E1673* 5017G>T BRCA-US 12 6690307 6690307 single base substitution A G downstream_gene_variant BRCA-US 12 6690307 6690307 single base substitution A G exon_variant BRCA-US 12 6690307 6690307 single base substitution A G intron_variant BRCA-US 12 6690307 6690307 single base substitution A G synonymous_variant D1597D 4791T>C BRCA-US 12 6690307 6690307 single base substitution A G synonymous_variant D1604D 4812T>C BRCA-US 12 6690307 6690307 single base substitution A G synonymous_variant D1629D 4887T>C BRCA-US 12 6690307 6690307 single base substitution A G synonymous_variant D1632D 4896T>C BRCA-US 12 6690831 6690831 single base substitution T G downstream_gene_variant BRCA-US 12 6690831 6690831 single base substitution T G intron_variant BRCA-US 12 6690831 6690831 single base substitution T G synonymous_variant A1548A 4644A>C BRCA-US 12 6690831 6690831 single base substitution T G synonymous_variant A1555A 4665A>C BRCA-US 12 6690831 6690831 single base substitution T G synonymous_variant A1580A 4740A>C BRCA-US 12 6690831 6690831 single base substitution T G synonymous_variant A1583A 4749A>C BRCA-US 12 6690831 6690831 single base substitution T G upstream_gene_variant BRCA-US 12 6690968 6690968 single base substitution C G downstream_gene_variant BRCA-US 12 6690968 6690968 single base substitution C G intron_variant BRCA-US 12 6690968 6690968 single base substitution C G missense_variant E1503Q 4507G>C BRCA-US 12 6690968 6690968 single base substitution C G missense_variant E1510Q 4528G>C BRCA-US 12 6690968 6690968 single base substitution C G missense_variant E1535Q 4603G>C BRCA-US 12 6690968 6690968 single base substitution C G missense_variant E1538Q 4612G>C BRCA-US 12 6690968 6690968 single base substitution C G upstream_gene_variant BRCA-US 12 6692026 6692026 single base substitution A C exon_variant BRCA-US 12 6692026 6692026 single base substitution A C intron_variant BRCA-US 12 6692026 6692026 single base substitution A C synonymous_variant G1401G 4203T>G BRCA-US 12 6692026 6692026 single base substitution A C synonymous_variant G1408G 4224T>G BRCA-US 12 6692026 6692026 single base substitution A C synonymous_variant G1433G 4299T>G BRCA-US 12 6692026 6692026 single base substitution A C synonymous_variant G1436G 4308T>G BRCA-US 12 6692026 6692026 single base substitution A C upstream_gene_variant BRCA-US 12 6692457 6692457 single base substitution C G exon_variant BRCA-US 12 6692457 6692457 single base substitution C G intron_variant BRCA-US 12 6692457 6692457 single base substitution C G missense_variant E1316Q 3946G>C BRCA-US 12 6692457 6692457 single base substitution C G missense_variant E1320Q 3958G>C BRCA-US 12 6692457 6692457 single base substitution C G missense_variant E1323Q 3967G>C BRCA-US 12 6692457 6692457 single base substitution C G upstream_gene_variant BRCA-US 12 6692483 6692483 single base substitution C T exon_variant BRCA-US 12 6692483 6692483 single base substitution C T intron_variant BRCA-US 12 6692483 6692483 single base substitution C T stop_gained W1307* 3920G>A BRCA-US 12 6692483 6692483 single base substitution C T stop_gained W1311* 3932G>A BRCA-US 12 6692483 6692483 single base substitution C T stop_gained W1314* 3941G>A BRCA-US 12 6692483 6692483 single base substitution C T upstream_gene_variant BRCA-US 12 6696712 6696712 single base substitution T C downstream_gene_variant BRCA-US 12 6696712 6696712 single base substitution T C exon_variant BRCA-US 12 6696712 6696712 single base substitution T C intron_variant BRCA-US 12 6696712 6696712 single base substitution T C synonymous_variant K1232K 3696A>G BRCA-US 12 6696712 6696712 single base substitution T C synonymous_variant K1236K 3708A>G BRCA-US 12 6696712 6696712 single base substitution T C synonymous_variant K1239K 3717A>G BRCA-US 12 6697021 6697021 single base substitution A C downstream_gene_variant BRCA-US 12 6697021 6697021 single base substitution A C intron_variant BRCA-US 12 6697021 6697021 single base substitution A C missense_variant V1180G 3539T>G BRCA-US 12 6697021 6697021 single base substitution A C missense_variant V1184G 3551T>G BRCA-US 12 6697021 6697021 single base substitution A C missense_variant V1187G 3560T>G BRCA-US 12 6697021 6697021 single base substitution A C upstream_gene_variant BRCA-US 12 6697097 6697097 single base substitution G A downstream_gene_variant BRCA-US 12 6697097 6697097 single base substitution G A intron_variant BRCA-US 12 6697097 6697097 single base substitution G A missense_variant R1155W 3463C>T BRCA-US 12 6697097 6697097 single base substitution G A missense_variant R1159W 3475C>T BRCA-US 12 6697097 6697097 single base substitution G A missense_variant R1162W 3484C>T BRCA-US 12 6697097 6697097 single base substitution G A upstream_gene_variant BRCA-US 12 6700887 6700887 single base substitution A C downstream_gene_variant BRCA-US 12 6700887 6700887 single base substitution A C exon_variant BRCA-US 12 6700887 6700887 single base substitution A C synonymous_variant G1058G 3174T>G BRCA-US 12 6700887 6700887 single base substitution A C synonymous_variant G1062G 3186T>G BRCA-US 12 6700887 6700887 single base substitution A C synonymous_variant G1065G 3195T>G BRCA-US 12 6700887 6700887 single base substitution A C upstream_gene_variant BRCA-US 12 6701124 6701124 single base substitution C G downstream_gene_variant BRCA-US 12 6701124 6701124 single base substitution C G exon_variant BRCA-US 12 6701124 6701124 single base substitution C G missense_variant K1009N 3027G>C BRCA-US 12 6701124 6701124 single base substitution C G missense_variant K1013N 3039G>C BRCA-US 12 6701124 6701124 single base substitution C G missense_variant K1016N 3048G>C BRCA-US 12 6701124 6701124 single base substitution C G upstream_gene_variant BRCA-US 12 6701207 6701207 single base substitution T A downstream_gene_variant BRCA-US 12 6701207 6701207 single base substitution T A exon_variant BRCA-US 12 6701207 6701207 single base substitution T A missense_variant I982F 2944A>T BRCA-US 12 6701207 6701207 single base substitution T A missense_variant I986F 2956A>T BRCA-US 12 6701207 6701207 single base substitution T A missense_variant I989F 2965A>T BRCA-US 12 6701207 6701207 single base substitution T A upstream_gene_variant BRCA-US 12 6701926 6701926 single base substitution G T downstream_gene_variant BRCA-US 12 6701926 6701926 single base substitution G T missense_variant P897T 2689C>A BRCA-US 12 6701926 6701926 single base substitution G T missense_variant P901T 2701C>A BRCA-US 12 6701926 6701926 single base substitution G T missense_variant P904T 2710C>A BRCA-US 12 6701926 6701926 single base substitution G T upstream_gene_variant BRCA-US 12 6702279 6702279 single base substitution C T downstream_gene_variant BRCA-US 12 6702279 6702279 single base substitution C T missense_variant R870Q 2609G>A BRCA-US 12 6702279 6702279 single base substitution C T missense_variant R874Q 2621G>A BRCA-US 12 6702279 6702279 single base substitution C T missense_variant R877Q 2630G>A BRCA-US 12 6702279 6702279 single base substitution C T upstream_gene_variant BRCA-US 12 6702280 6702280 single base substitution G A downstream_gene_variant BRCA-US 12 6702280 6702280 single base substitution G A missense_variant R870W 2608C>T BRCA-US 12 6702280 6702280 single base substitution G A missense_variant R874W 2620C>T BRCA-US 12 6702280 6702280 single base substitution G A missense_variant R877W 2629C>T BRCA-US 12 6702280 6702280 single base substitution G A upstream_gene_variant BRCA-US 12 6702335 6702335 single base substitution G A downstream_gene_variant BRCA-US 12 6702335 6702335 single base substitution G A synonymous_variant D851D 2553C>T BRCA-US 12 6702335 6702335 single base substitution G A synonymous_variant D855D 2565C>T BRCA-US 12 6702335 6702335 single base substitution G A synonymous_variant D858D 2574C>T BRCA-US 12 6702335 6702335 single base substitution G A upstream_gene_variant BRCA-US 12 6702638 6702638 single base substitution C T downstream_gene_variant BRCA-US 12 6702638 6702638 single base substitution C T missense_variant E813K 2437G>A BRCA-US 12 6702638 6702638 single base substitution C T missense_variant E817K 2449G>A BRCA-US 12 6702638 6702638 single base substitution C T missense_variant E820K 2458G>A BRCA-US 12 6702638 6702638 single base substitution C T upstream_gene_variant BRCA-US 12 6707089 6707089 single base substitution C T downstream_gene_variant BRCA-US 12 6707089 6707089 single base substitution C T exon_variant BRCA-US 12 6707089 6707089 single base substitution C T stop_gained W614* 1842G>A BRCA-US 12 6707089 6707089 single base substitution C T stop_gained W618* 1854G>A BRCA-US 12 6707089 6707089 single base substitution C T stop_gained W621* 1863G>A BRCA-US 12 6707238 6707238 single base substitution G A downstream_gene_variant BRCA-US 12 6707238 6707238 single base substitution G A stop_gained R565* 1693C>T BRCA-US 12 6707238 6707238 single base substitution G A stop_gained R569* 1705C>T BRCA-US 12 6707238 6707238 single base substitution G A stop_gained R572* 1714C>T BRCA-US 12 6707238 6707238 single base substitution G A upstream_gene_variant BRCA-US 12 6709817 6709817 single base substitution C G downstream_gene_variant BRCA-US 12 6709817 6709817 single base substitution C G exon_variant BRCA-US 12 6709817 6709817 single base substitution C G missense_variant D309H 925G>C BRCA-US 12 6709817 6709817 single base substitution C G missense_variant D313H 937G>C BRCA-US 12 6709817 6709817 single base substitution C G missense_variant D316H 946G>C BRCA-US 12 6709817 6709817 single base substitution C G upstream_gene_variant BRCA-US 12 6710219 6710219 single base substitution C A downstream_gene_variant BRCA-US 12 6710219 6710219 single base substitution C A missense_variant G260V 779G>T BRCA-US 12 6710219 6710219 single base substitution C A missense_variant G264V 791G>T BRCA-US 12 6710219 6710219 single base substitution C A missense_variant G267V 800G>T BRCA-US 12 6710219 6710219 single base substitution C A upstream_gene_variant BRCA-US 12 6710551 6710551 single base substitution C G downstream_gene_variant BRCA-US 12 6710551 6710551 single base substitution C G missense_variant A228P 682G>C BRCA-US 12 6710551 6710551 single base substitution C G missense_variant A232P 694G>C BRCA-US 12 6710551 6710551 single base substitution C G missense_variant A235P 703G>C BRCA-US 12 6710551 6710551 single base substitution C G upstream_gene_variant BRCA-US 12 6711207 6711209 deletion of <=200bp CTT - exon_variant BRCA-US 12 6711207 6711209 deletion of <=200bp CTT - inframe_deletion K112 BRCA-US 12 6711207 6711209 deletion of <=200bp CTT - inframe_deletion K116 BRCA-US 12 6711207 6711209 deletion of <=200bp CTT - inframe_deletion K119 BRCA-US 12 6711207 6711209 deletion of <=200bp CTT - upstream_gene_variant BRCA-US 12 6711295 6711295 single base substitution G T exon_variant BRCA-US 12 6711295 6711295 single base substitution G T missense_variant P83Q 248C>A BRCA-US 12 6711295 6711295 single base substitution G T missense_variant P87Q 260C>A BRCA-US 12 6711295 6711295 single base substitution G T missense_variant P90Q 269C>A BRCA-US 12 6711295 6711295 single base substitution G T upstream_gene_variant BRCA-US 12 6715439 6715439 single base substitution C T splice_donor_variant BRCA-US 12 6715439 6715439 single base substitution C T upstream_gene_variant BTCA-JP 12 6687099 6687099 single base substitution T A downstream_gene_variant BTCA-JP 12 6687099 6687099 single base substitution T A intron_variant BTCA-JP 12 6692084 6692084 single base substitution C T exon_variant BTCA-JP 12 6692084 6692084 single base substitution C T intron_variant BTCA-JP 12 6692084 6692084 single base substitution C T missense_variant R1382H 4145G>A BTCA-JP 12 6692084 6692084 single base substitution C T missense_variant R1389H 4166G>A BTCA-JP 12 6692084 6692084 single base substitution C T missense_variant R1414H 4241G>A BTCA-JP 12 6692084 6692084 single base substitution C T missense_variant R1417H 4250G>A BTCA-JP 12 6692084 6692084 single base substitution C T upstream_gene_variant BTCA-JP 12 6696508 6696508 single base substitution G C downstream_gene_variant BTCA-JP 12 6696508 6696508 single base substitution G C intron_variant BTCA-JP 12 6697096 6697096 single base substitution C T downstream_gene_variant BTCA-JP 12 6697096 6697096 single base substitution C T intron_variant BTCA-JP 12 6697096 6697096 single base substitution C T missense_variant R1155Q 3464G>A BTCA-JP 12 6697096 6697096 single base substitution C T missense_variant R1159Q 3476G>A BTCA-JP 12 6697096 6697096 single base substitution C T missense_variant R1162Q 3485G>A BTCA-JP 12 6697096 6697096 single base substitution C T upstream_gene_variant BTCA-JP 12 6702006 6702006 single base substitution G A downstream_gene_variant BTCA-JP 12 6702006 6702006 single base substitution G A intron_variant BTCA-JP 12 6702006 6702006 single base substitution G A upstream_gene_variant BTCA-JP 12 6709012 6709014 deletion of <=200bp GAA - disruptive_inframe_deletion SS462S BTCA-JP 12 6709012 6709014 deletion of <=200bp GAA - disruptive_inframe_deletion SS466S BTCA-JP 12 6709012 6709014 deletion of <=200bp GAA - disruptive_inframe_deletion SS469S BTCA-JP 12 6709012 6709014 deletion of <=200bp GAA - downstream_gene_variant BTCA-JP 12 6709012 6709014 deletion of <=200bp GAA - exon_variant BTCA-JP 12 6709012 6709014 deletion of <=200bp GAA - upstream_gene_variant BTCA-JP 12 6711546 6711546 deletion of <=200bp T - exon_variant BTCA-JP 12 6711546 6711546 deletion of <=200bp T - frameshift_variant K70 BTCA-JP 12 6711546 6711546 deletion of <=200bp T - frameshift_variant K73 BTCA-JP 12 6711546 6711546 deletion of <=200bp T - upstream_gene_variant CESC-US 12 6687053 6687053 single base substitution C T downstream_gene_variant CESC-US 12 6687053 6687053 single base substitution C T synonymous_variant Q1746Q 5238G>A CESC-US 12 6687053 6687053 single base substitution C T synonymous_variant Q1753Q 5259G>A CESC-US 12 6687053 6687053 single base substitution C T synonymous_variant Q1778Q 5334G>A CESC-US 12 6687053 6687053 single base substitution C T synonymous_variant Q1781Q 5343G>A CESC-US 12 6687669 6687669 single base substitution C T downstream_gene_variant CESC-US 12 6687669 6687669 single base substitution C T synonymous_variant Q1668Q 5004G>A CESC-US 12 6687669 6687669 single base substitution C T synonymous_variant Q1675Q 5025G>A CESC-US 12 6687669 6687669 single base substitution C T synonymous_variant Q1700Q 5100G>A CESC-US 12 6687669 6687669 single base substitution C T synonymous_variant Q1703Q 5109G>A CESC-US 12 6687678 6687678 single base substitution C T downstream_gene_variant CESC-US 12 6687678 6687678 single base substitution C T synonymous_variant V1665V 4995G>A CESC-US 12 6687678 6687678 single base substitution C T synonymous_variant V1672V 5016G>A CESC-US 12 6687678 6687678 single base substitution C T synonymous_variant V1697V 5091G>A CESC-US 12 6687678 6687678 single base substitution C T synonymous_variant V1700V 5100G>A CESC-US 12 6690234 6690234 single base substitution C T downstream_gene_variant CESC-US 12 6690234 6690234 single base substitution C T exon_variant CESC-US 12 6690234 6690234 single base substitution C T missense_variant E1622K 4864G>A CESC-US 12 6690234 6690234 single base substitution C T missense_variant E1629K 4885G>A CESC-US 12 6690234 6690234 single base substitution C T missense_variant E1654K 4960G>A CESC-US 12 6690234 6690234 single base substitution C T missense_variant E1657K 4969G>A CESC-US 12 6690291 6690291 single base substitution C T downstream_gene_variant CESC-US 12 6690291 6690291 single base substitution C T exon_variant CESC-US 12 6690291 6690291 single base substitution C T missense_variant E1603K 4807G>A CESC-US 12 6690291 6690291 single base substitution C T missense_variant E1610K 4828G>A CESC-US 12 6690291 6690291 single base substitution C T missense_variant E1635K 4903G>A CESC-US 12 6690291 6690291 single base substitution C T missense_variant E1638K 4912G>A CESC-US 12 6692280 6692280 single base substitution C G intron_variant CESC-US 12 6692280 6692280 single base substitution C G missense_variant D1379H 4135G>C CESC-US 12 6692280 6692280 single base substitution C G missense_variant D1382H 4144G>C CESC-US 12 6692280 6692280 single base substitution C G splice_acceptor_variant CESC-US 12 6692280 6692280 single base substitution C G upstream_gene_variant CESC-US 12 6692553 6692553 single base substitution G A intron_variant CESC-US 12 6692553 6692553 single base substitution G A upstream_gene_variant CESC-US 12 6701194 6701194 single base substitution T G downstream_gene_variant CESC-US 12 6701194 6701194 single base substitution T G exon_variant CESC-US 12 6701194 6701194 single base substitution T G missense_variant N986T 2957A>C CESC-US 12 6701194 6701194 single base substitution T G missense_variant N990T 2969A>C CESC-US 12 6701194 6701194 single base substitution T G missense_variant N993T 2978A>C CESC-US 12 6701194 6701194 single base substitution T G upstream_gene_variant CESC-US 12 6703682 6703682 single base substitution C G downstream_gene_variant CESC-US 12 6703682 6703682 single base substitution C G missense_variant E745D 2235G>C CESC-US 12 6703682 6703682 single base substitution C G missense_variant E749D 2247G>C CESC-US 12 6703682 6703682 single base substitution C G missense_variant E752D 2256G>C CESC-US 12 6703682 6703682 single base substitution C G upstream_gene_variant CESC-US 12 6705248 6705248 single base substitution C T downstream_gene_variant CESC-US 12 6705248 6705248 single base substitution C T exon_variant CESC-US 12 6705248 6705248 single base substitution C T missense_variant D643N 1927G>A CESC-US 12 6705248 6705248 single base substitution C T missense_variant D647N 1939G>A CESC-US 12 6705248 6705248 single base substitution C T missense_variant D650N 1948G>A CESC-US 12 6705248 6705248 single base substitution C T upstream_gene_variant CESC-US 12 6707155 6707155 single base substitution C G downstream_gene_variant CESC-US 12 6707155 6707155 single base substitution C G exon_variant CESC-US 12 6707155 6707155 single base substitution C G missense_variant K592N 1776G>C CESC-US 12 6707155 6707155 single base substitution C G missense_variant K596N 1788G>C CESC-US 12 6707155 6707155 single base substitution C G missense_variant K599N 1797G>C CESC-US 12 6709028 6709028 single base substitution C T downstream_gene_variant CESC-US 12 6709028 6709028 single base substitution C T exon_variant CESC-US 12 6709028 6709028 single base substitution C T missense_variant D458N 1372G>A CESC-US 12 6709028 6709028 single base substitution C T missense_variant D462N 1384G>A CESC-US 12 6709028 6709028 single base substitution C T missense_variant D465N 1393G>A CESC-US 12 6709028 6709028 single base substitution C T upstream_gene_variant CESC-US 12 6709699 6709699 single base substitution C T downstream_gene_variant CESC-US 12 6709699 6709699 single base substitution C T splice_donor_variant CESC-US 12 6709699 6709699 single base substitution C T upstream_gene_variant CESC-US 12 6710828 6710828 single base substitution G A downstream_gene_variant CESC-US 12 6710828 6710828 single base substitution G A synonymous_variant F174F 522C>T CESC-US 12 6710828 6710828 single base substitution G A synonymous_variant F178F 534C>T CESC-US 12 6710828 6710828 single base substitution G A synonymous_variant F181F 543C>T CESC-US 12 6710828 6710828 single base substitution G A upstream_gene_variant CESC-US 12 6711619 6711619 single base substitution G C exon_variant CESC-US 12 6711619 6711619 single base substitution G C missense_variant P46A 136C>G CESC-US 12 6711619 6711619 single base substitution G C missense_variant P49A 145C>G CESC-US 12 6711619 6711619 single base substitution G C upstream_gene_variant CLLE-ES 12 6674608 6674608 single base substitution G A downstream_gene_variant CLLE-ES 12 6683903 6683903 single base substitution T G downstream_gene_variant CLLE-ES 12 6683903 6683903 single base substitution T G intron_variant CLLE-ES 12 6683903 6683903 single base substitution T G upstream_gene_variant COAD-US 12 6675332 6675332 single base substitution C T downstream_gene_variant COAD-US 12 6691409 6691409 single base substitution G A exon_variant COAD-US 12 6691409 6691409 single base substitution G A intron_variant COAD-US 12 6691409 6691409 single base substitution G A missense_variant P1463L 4388C>T COAD-US 12 6691409 6691409 single base substitution G A missense_variant P1470L 4409C>T COAD-US 12 6691409 6691409 single base substitution G A missense_variant P1495L 4484C>T COAD-US 12 6691409 6691409 single base substitution G A missense_variant P1498L 4493C>T COAD-US 12 6691409 6691409 single base substitution G A upstream_gene_variant COAD-US 12 6691425 6691425 single base substitution G A exon_variant COAD-US 12 6691425 6691425 single base substitution G A intron_variant COAD-US 12 6691425 6691425 single base substitution G A missense_variant R1458W 4372C>T COAD-US 12 6691425 6691425 single base substitution G A missense_variant R1465W 4393C>T COAD-US 12 6691425 6691425 single base substitution G A missense_variant R1490W 4468C>T COAD-US 12 6691425 6691425 single base substitution G A missense_variant R1493W 4477C>T COAD-US 12 6691425 6691425 single base substitution G A upstream_gene_variant COAD-US 12 6692036 6692036 single base substitution G A exon_variant COAD-US 12 6692036 6692036 single base substitution G A intron_variant COAD-US 12 6692036 6692036 single base substitution G A missense_variant A1398V 4193C>T COAD-US 12 6692036 6692036 single base substitution G A missense_variant A1405V 4214C>T COAD-US 12 6692036 6692036 single base substitution G A missense_variant A1430V 4289C>T COAD-US 12 6692036 6692036 single base substitution G A missense_variant A1433V 4298C>T COAD-US 12 6692036 6692036 single base substitution G A upstream_gene_variant COAD-US 12 6696607 6696607 single base substitution A G downstream_gene_variant COAD-US 12 6696607 6696607 single base substitution A G exon_variant COAD-US 12 6696607 6696607 single base substitution A G intron_variant COAD-US 12 6696607 6696607 single base substitution A G synonymous_variant N1267N 3801T>C COAD-US 12 6696607 6696607 single base substitution A G synonymous_variant N1271N 3813T>C COAD-US 12 6696607 6696607 single base substitution A G synonymous_variant N1274N 3822T>C COAD-US 12 6697481 6697481 single base substitution G A downstream_gene_variant COAD-US 12 6697481 6697481 single base substitution G A intron_variant COAD-US 12 6697481 6697481 single base substitution G A missense_variant P1143S 3427C>T COAD-US 12 6697481 6697481 single base substitution G A missense_variant P1147S 3439C>T COAD-US 12 6697481 6697481 single base substitution G A missense_variant P1150S 3448C>T COAD-US 12 6697481 6697481 single base substitution G A upstream_gene_variant COAD-US 12 6701671 6701671 insertion of <=200bp - T downstream_gene_variant COAD-US 12 6701671 6701671 insertion of <=200bp - T exon_variant COAD-US 12 6701671 6701671 insertion of <=200bp - T frameshift_variant L939H? COAD-US 12 6701671 6701671 insertion of <=200bp - T frameshift_variant L943H? COAD-US 12 6701671 6701671 insertion of <=200bp - T frameshift_variant L946H? COAD-US 12 6701671 6701671 insertion of <=200bp - T upstream_gene_variant COAD-US 12 6705225 6705225 single base substitution C T downstream_gene_variant COAD-US 12 6705225 6705225 single base substitution C T exon_variant COAD-US 12 6705225 6705225 single base substitution C T synonymous_variant E650E 1950G>A COAD-US 12 6705225 6705225 single base substitution C T synonymous_variant E654E 1962G>A COAD-US 12 6705225 6705225 single base substitution C T synonymous_variant E657E 1971G>A COAD-US 12 6705225 6705225 single base substitution C T upstream_gene_variant COAD-US 12 6707237 6707237 single base substitution C T downstream_gene_variant COAD-US 12 6707237 6707237 single base substitution C T missense_variant R565Q 1694G>A COAD-US 12 6707237 6707237 single base substitution C T missense_variant R569Q 1706G>A COAD-US 12 6707237 6707237 single base substitution C T missense_variant R572Q 1715G>A COAD-US 12 6707237 6707237 single base substitution C T upstream_gene_variant COAD-US 12 6708992 6708992 single base substitution T C downstream_gene_variant COAD-US 12 6708992 6708992 single base substitution T C exon_variant COAD-US 12 6708992 6708992 single base substitution T C missense_variant N470D 1408A>G COAD-US 12 6708992 6708992 single base substitution T C missense_variant N474D 1420A>G COAD-US 12 6708992 6708992 single base substitution T C missense_variant N477D 1429A>G COAD-US 12 6708992 6708992 single base substitution T C upstream_gene_variant COAD-US 12 6709009 6709009 single base substitution T C downstream_gene_variant COAD-US 12 6709009 6709009 single base substitution T C exon_variant COAD-US 12 6709009 6709009 single base substitution T C missense_variant Y464C 1391A>G COAD-US 12 6709009 6709009 single base substitution T C missense_variant Y468C 1403A>G COAD-US 12 6709009 6709009 single base substitution T C missense_variant Y471C 1412A>G COAD-US 12 6709009 6709009 single base substitution T C upstream_gene_variant COAD-US 12 6709724 6709724 single base substitution G A downstream_gene_variant COAD-US 12 6709724 6709724 single base substitution G A exon_variant COAD-US 12 6709724 6709724 single base substitution G A stop_gained R340* 1018C>T COAD-US 12 6709724 6709724 single base substitution G A stop_gained R344* 1030C>T COAD-US 12 6709724 6709724 single base substitution G A stop_gained R347* 1039C>T COAD-US 12 6709724 6709724 single base substitution G A upstream_gene_variant COAD-US 12 6710555 6710555 single base substitution C T downstream_gene_variant COAD-US 12 6710555 6710555 single base substitution C T synonymous_variant A226A 678G>A COAD-US 12 6710555 6710555 single base substitution C T synonymous_variant A230A 690G>A COAD-US 12 6710555 6710555 single base substitution C T synonymous_variant A233A 699G>A COAD-US 12 6710555 6710555 single base substitution C T upstream_gene_variant COAD-US 12 6711147 6711147 single base substitution C A downstream_gene_variant COAD-US 12 6711147 6711147 single base substitution C A exon_variant COAD-US 12 6711147 6711147 single base substitution C A missense_variant E132D 396G>T COAD-US 12 6711147 6711147 single base substitution C A missense_variant E136D 408G>T COAD-US 12 6711147 6711147 single base substitution C A missense_variant E139D 417G>T COAD-US 12 6711147 6711147 single base substitution C A upstream_gene_variant COAD-US 12 6715527 6715527 single base substitution G A synonymous_variant L5L 13C>T COAD-US 12 6715527 6715527 single base substitution G A upstream_gene_variant COCA-CN 12 6679743 6679743 single base substitution G A 3_prime_UTR_variant COCA-CN 12 6679743 6679743 single base substitution G A exon_variant COCA-CN 12 6681209 6681209 single base substitution C T intron_variant COCA-CN 12 6681209 6681209 single base substitution C T upstream_gene_variant COCA-CN 12 6682160 6682160 single base substitution T G intron_variant COCA-CN 12 6682160 6682160 single base substitution T G upstream_gene_variant COCA-CN 12 6687766 6687766 single base substitution G A downstream_gene_variant COCA-CN 12 6687766 6687766 single base substitution G A intron_variant COCA-CN 12 6687912 6687912 single base substitution A C downstream_gene_variant COCA-CN 12 6687912 6687912 single base substitution A C intron_variant COCA-CN 12 6688087 6688087 single base substitution G T downstream_gene_variant COCA-CN 12 6688087 6688087 single base substitution G T intron_variant COCA-CN 12 6688087 6688087 single base substitution G T splice_region_variant COCA-CN 12 6690332 6690332 single base substitution T C downstream_gene_variant COCA-CN 12 6690332 6690332 single base substitution T C exon_variant COCA-CN 12 6690332 6690332 single base substitution T C intron_variant COCA-CN 12 6690332 6690332 single base substitution T C missense_variant Q1589R 4766A>G COCA-CN 12 6690332 6690332 single base substitution T C missense_variant Q1596R 4787A>G COCA-CN 12 6690332 6690332 single base substitution T C missense_variant Q1621R 4862A>G COCA-CN 12 6690332 6690332 single base substitution T C missense_variant Q1624R 4871A>G COCA-CN 12 6692411 6692411 single base substitution C A exon_variant COCA-CN 12 6692411 6692411 single base substitution C A intron_variant COCA-CN 12 6692411 6692411 single base substitution C A missense_variant R1331I 3992G>T COCA-CN 12 6692411 6692411 single base substitution C A missense_variant R1335I 4004G>T COCA-CN 12 6692411 6692411 single base substitution C A missense_variant R1338I 4013G>T COCA-CN 12 6692411 6692411 single base substitution C A upstream_gene_variant COCA-CN 12 6692422 6692422 single base substitution G A exon_variant COCA-CN 12 6692422 6692422 single base substitution G A intron_variant COCA-CN 12 6692422 6692422 single base substitution G A synonymous_variant G1327G 3981C>T COCA-CN 12 6692422 6692422 single base substitution G A synonymous_variant G1331G 3993C>T COCA-CN 12 6692422 6692422 single base substitution G A synonymous_variant G1334G 4002C>T COCA-CN 12 6692422 6692422 single base substitution G A upstream_gene_variant COCA-CN 12 6696921 6696921 single base substitution T G downstream_gene_variant COCA-CN 12 6696921 6696921 single base substitution T G exon_variant COCA-CN 12 6696921 6696921 single base substitution T G intron_variant COCA-CN 12 6696921 6696921 single base substitution T G missense_variant K1213N 3639A>C COCA-CN 12 6696921 6696921 single base substitution T G missense_variant K1217N 3651A>C COCA-CN 12 6696921 6696921 single base substitution T G missense_variant K1220N 3660A>C COCA-CN 12 6697351 6697351 single base substitution C T downstream_gene_variant COCA-CN 12 6697351 6697351 single base substitution C T intron_variant COCA-CN 12 6697351 6697351 single base substitution C T upstream_gene_variant COCA-CN 12 6701101 6701101 single base substitution A C downstream_gene_variant COCA-CN 12 6701101 6701101 single base substitution A C exon_variant COCA-CN 12 6701101 6701101 single base substitution A C missense_variant L1017R 3050T>G COCA-CN 12 6701101 6701101 single base substitution A C missense_variant L1021R 3062T>G COCA-CN 12 6701101 6701101 single base substitution A C missense_variant L1024R 3071T>G COCA-CN 12 6701101 6701101 single base substitution A C upstream_gene_variant COCA-CN 12 6702580 6702580 single base substitution A G downstream_gene_variant COCA-CN 12 6702580 6702580 single base substitution A G splice_donor_variant COCA-CN 12 6702580 6702580 single base substitution A G upstream_gene_variant COCA-CN 12 6703597 6703597 single base substitution A C downstream_gene_variant COCA-CN 12 6703597 6703597 single base substitution A C intron_variant COCA-CN 12 6703597 6703597 single base substitution A C upstream_gene_variant COCA-CN 12 6703719 6703719 single base substitution G C downstream_gene_variant COCA-CN 12 6703719 6703719 single base substitution G C missense_variant S733C 2198C>G COCA-CN 12 6703719 6703719 single base substitution G C missense_variant S737C 2210C>G COCA-CN 12 6703719 6703719 single base substitution G C missense_variant S740C 2219C>G COCA-CN 12 6703719 6703719 single base substitution G C upstream_gene_variant COCA-CN 12 6709985 6709985 single base substitution C T downstream_gene_variant COCA-CN 12 6709985 6709985 single base substitution C T intron_variant COCA-CN 12 6709985 6709985 single base substitution C T upstream_gene_variant COCA-CN 12 6710650 6710650 single base substitution T C downstream_gene_variant COCA-CN 12 6710650 6710650 single base substitution T C missense_variant M195V 583A>G COCA-CN 12 6710650 6710650 single base substitution T C missense_variant M199V 595A>G COCA-CN 12 6710650 6710650 single base substitution T C missense_variant M202V 604A>G COCA-CN 12 6710650 6710650 single base substitution T C upstream_gene_variant COCA-CN 12 6711150 6711150 single base substitution C A downstream_gene_variant COCA-CN 12 6711150 6711150 single base substitution C A exon_variant COCA-CN 12 6711150 6711150 single base substitution C A missense_variant E131D 393G>T COCA-CN 12 6711150 6711150 single base substitution C A missense_variant E135D 405G>T COCA-CN 12 6711150 6711150 single base substitution C A missense_variant E138D 414G>T COCA-CN 12 6711150 6711150 single base substitution C A upstream_gene_variant COCA-CN 12 6711164 6711164 single base substitution C T downstream_gene_variant COCA-CN 12 6711164 6711164 single base substitution C T exon_variant COCA-CN 12 6711164 6711164 single base substitution C T missense_variant E127K 379G>A COCA-CN 12 6711164 6711164 single base substitution C T missense_variant E131K 391G>A COCA-CN 12 6711164 6711164 single base substitution C T missense_variant E134K 400G>A COCA-CN 12 6711164 6711164 single base substitution C T upstream_gene_variant COCA-CN 12 6715980 6715980 single base substitution T G intron_variant COCA-CN 12 6715980 6715980 single base substitution T G upstream_gene_variant EOPC-DE 12 6684898 6684898 single base substitution G A downstream_gene_variant EOPC-DE 12 6684898 6684898 single base substitution G A intron_variant EOPC-DE 12 6684898 6684898 single base substitution G A upstream_gene_variant EOPC-DE 12 6717174 6717174 single base substitution A C upstream_gene_variant ESAD-UK 12 6677545 6677545 single base substitution C T downstream_gene_variant ESAD-UK 12 6678451 6678451 single base substitution T A downstream_gene_variant ESAD-UK 12 6679049 6679049 single base substitution C T downstream_gene_variant ESAD-UK 12 6679239 6679239 single base substitution C T downstream_gene_variant ESAD-UK 12 6681193 6681193 single base substitution G T intron_variant ESAD-UK 12 6681193 6681193 single base substitution G T upstream_gene_variant ESAD-UK 12 6681304 6681304 single base substitution G A intron_variant ESAD-UK 12 6681304 6681304 single base substitution G A upstream_gene_variant ESAD-UK 12 6689146 6689146 single base substitution C A downstream_gene_variant ESAD-UK 12 6689146 6689146 single base substitution C A intron_variant ESAD-UK 12 6694091 6694091 single base substitution G T intron_variant ESAD-UK 12 6694091 6694091 single base substitution G T upstream_gene_variant ESAD-UK 12 6695461 6695461 single base substitution G A downstream_gene_variant ESAD-UK 12 6695461 6695461 single base substitution G A intron_variant ESAD-UK 12 6696001 6696001 single base substitution C T downstream_gene_variant ESAD-UK 12 6696001 6696001 single base substitution C T intron_variant ESAD-UK 12 6696394 6696394 single base substitution C T downstream_gene_variant ESAD-UK 12 6696394 6696394 single base substitution C T intron_variant ESAD-UK 12 6696965 6696965 insertion of <=200bp - CC downstream_gene_variant ESAD-UK 12 6696965 6696965 insertion of <=200bp - CC exon_variant ESAD-UK 12 6696965 6696965 insertion of <=200bp - CC frameshift_variant K1199R? ESAD-UK 12 6696965 6696965 insertion of <=200bp - CC frameshift_variant K1203R? ESAD-UK 12 6696965 6696965 insertion of <=200bp - CC frameshift_variant K1206R? ESAD-UK 12 6696965 6696965 insertion of <=200bp - CC intron_variant ESAD-UK 12 6697052 6697052 single base substitution G A downstream_gene_variant ESAD-UK 12 6697052 6697052 single base substitution G A intron_variant ESAD-UK 12 6697052 6697052 single base substitution G A missense_variant R1170C 3508C>T ESAD-UK 12 6697052 6697052 single base substitution G A missense_variant R1174C 3520C>T ESAD-UK 12 6697052 6697052 single base substitution G A missense_variant R1177C 3529C>T ESAD-UK 12 6697052 6697052 single base substitution G A upstream_gene_variant ESAD-UK 12 6698196 6698196 single base substitution C T downstream_gene_variant ESAD-UK 12 6698196 6698196 single base substitution C T intron_variant ESAD-UK 12 6698196 6698196 single base substitution C T upstream_gene_variant ESAD-UK 12 6698802 6698802 single base substitution G A downstream_gene_variant ESAD-UK 12 6698802 6698802 single base substitution G A intron_variant ESAD-UK 12 6698802 6698802 single base substitution G A upstream_gene_variant ESAD-UK 12 6701198 6701198 single base substitution G C downstream_gene_variant ESAD-UK 12 6701198 6701198 single base substitution G C exon_variant ESAD-UK 12 6701198 6701198 single base substitution G C missense_variant R985G 2953C>G ESAD-UK 12 6701198 6701198 single base substitution G C missense_variant R989G 2965C>G ESAD-UK 12 6701198 6701198 single base substitution G C missense_variant R992G 2974C>G ESAD-UK 12 6701198 6701198 single base substitution G C upstream_gene_variant ESAD-UK 12 6701414 6701414 single base substitution G A downstream_gene_variant ESAD-UK 12 6701414 6701414 single base substitution G A intron_variant ESAD-UK 12 6701414 6701414 single base substitution G A upstream_gene_variant ESAD-UK 12 6704537 6704537 single base substitution C T downstream_gene_variant ESAD-UK 12 6704537 6704537 single base substitution C T missense_variant R688Q 2063G>A ESAD-UK 12 6704537 6704537 single base substitution C T missense_variant R692Q 2075G>A ESAD-UK 12 6704537 6704537 single base substitution C T missense_variant R695Q 2084G>A ESAD-UK 12 6704537 6704537 single base substitution C T upstream_gene_variant ESAD-UK 12 6705321 6705321 single base substitution A C downstream_gene_variant ESAD-UK 12 6705321 6705321 single base substitution A C intron_variant ESAD-UK 12 6705321 6705321 single base substitution A C upstream_gene_variant ESAD-UK 12 6709595 6709595 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 6709595 6709595 insertion of <=200bp - A intron_variant ESAD-UK 12 6709595 6709595 insertion of <=200bp - A upstream_gene_variant ESAD-UK 12 6709832 6709832 single base substitution C A downstream_gene_variant ESAD-UK 12 6709832 6709832 single base substitution C A exon_variant ESAD-UK 12 6709832 6709832 single base substitution C A stop_gained E304* 910G>T ESAD-UK 12 6709832 6709832 single base substitution C A stop_gained E308* 922G>T ESAD-UK 12 6709832 6709832 single base substitution C A stop_gained E311* 931G>T ESAD-UK 12 6709832 6709832 single base substitution C A upstream_gene_variant ESAD-UK 12 6711207 6711209 deletion of <=200bp CTT - exon_variant ESAD-UK 12 6711207 6711209 deletion of <=200bp CTT - inframe_deletion K112 ESAD-UK 12 6711207 6711209 deletion of <=200bp CTT - inframe_deletion K116 ESAD-UK 12 6711207 6711209 deletion of <=200bp CTT - inframe_deletion K119 ESAD-UK 12 6711207 6711209 deletion of <=200bp CTT - upstream_gene_variant ESAD-UK 12 6711760 6711760 single base substitution T A intron_variant ESAD-UK 12 6711760 6711760 single base substitution T A upstream_gene_variant ESAD-UK 12 6713651 6713651 single base substitution C T intron_variant ESAD-UK 12 6713651 6713651 single base substitution C T upstream_gene_variant ESAD-UK 12 6714099 6714099 single base substitution C G intron_variant ESAD-UK 12 6714099 6714099 single base substitution C G upstream_gene_variant ESCA-CN 12 6687691 6687691 single base substitution T C downstream_gene_variant ESCA-CN 12 6687691 6687691 single base substitution T C missense_variant E1661G 4982A>G ESCA-CN 12 6687691 6687691 single base substitution T C missense_variant E1668G 5003A>G ESCA-CN 12 6687691 6687691 single base substitution T C missense_variant E1693G 5078A>G ESCA-CN 12 6687691 6687691 single base substitution T C missense_variant E1696G 5087A>G ESCA-CN 12 6697549 6697549 single base substitution C T downstream_gene_variant ESCA-CN 12 6697549 6697549 single base substitution C T intron_variant ESCA-CN 12 6697549 6697549 single base substitution C T missense_variant R1120Q 3359G>A ESCA-CN 12 6697549 6697549 single base substitution C T missense_variant R1124Q 3371G>A ESCA-CN 12 6697549 6697549 single base substitution C T missense_variant R1127Q 3380G>A ESCA-CN 12 6697549 6697549 single base substitution C T upstream_gene_variant ESCA-CN 12 6701909 6701909 single base substitution C T downstream_gene_variant ESCA-CN 12 6701909 6701909 single base substitution C T synonymous_variant L902L 2706G>A ESCA-CN 12 6701909 6701909 single base substitution C T synonymous_variant L906L 2718G>A ESCA-CN 12 6701909 6701909 single base substitution C T synonymous_variant L909L 2727G>A ESCA-CN 12 6701909 6701909 single base substitution C T upstream_gene_variant ESCA-CN 12 6709484 6709484 single base substitution C G downstream_gene_variant ESCA-CN 12 6709484 6709484 single base substitution C G exon_variant ESCA-CN 12 6709484 6709484 single base substitution C G missense_variant E374Q 1120G>C ESCA-CN 12 6709484 6709484 single base substitution C G missense_variant E378Q 1132G>C ESCA-CN 12 6709484 6709484 single base substitution C G missense_variant E381Q 1141G>C ESCA-CN 12 6709484 6709484 single base substitution C G upstream_gene_variant GACA-CN 12 6709457 6709457 single base substitution G A downstream_gene_variant GACA-CN 12 6709457 6709457 single base substitution G A exon_variant GACA-CN 12 6709457 6709457 single base substitution G A missense_variant R383C 1147C>T GACA-CN 12 6709457 6709457 single base substitution G A missense_variant R387C 1159C>T GACA-CN 12 6709457 6709457 single base substitution G A missense_variant R390C 1168C>T GACA-CN 12 6709457 6709457 single base substitution G A upstream_gene_variant GBM-US 12 6675301 6675301 single base substitution T G downstream_gene_variant GBM-US 12 6691851 6691851 single base substitution G A exon_variant GBM-US 12 6691851 6691851 single base substitution G A intron_variant GBM-US 12 6691851 6691851 single base substitution G A missense_variant P1427S 4279C>T GBM-US 12 6691851 6691851 single base substitution G A missense_variant P1434S 4300C>T GBM-US 12 6691851 6691851 single base substitution G A missense_variant P1459S 4375C>T GBM-US 12 6691851 6691851 single base substitution G A missense_variant P1462S 4384C>T GBM-US 12 6691851 6691851 single base substitution G A upstream_gene_variant KIRC-US 12 6688041 6688041 single base substitution T G downstream_gene_variant KIRC-US 12 6688041 6688041 single base substitution T G exon_variant KIRC-US 12 6688041 6688041 single base substitution T G missense_variant D1644A 4931A>C KIRC-US 12 6688041 6688041 single base substitution T G missense_variant D1651A 4952A>C KIRC-US 12 6688041 6688041 single base substitution T G missense_variant D1676A 5027A>C KIRC-US 12 6688041 6688041 single base substitution T G missense_variant D1679A 5036A>C KIRC-US 12 6690533 6690533 single base substitution T G downstream_gene_variant KIRC-US 12 6690533 6690533 single base substitution T G intron_variant KIRC-US 12 6690533 6690533 single base substitution T G missense_variant E1561A 4682A>C KIRC-US 12 6690533 6690533 single base substitution T G missense_variant E1568A 4703A>C KIRC-US 12 6690533 6690533 single base substitution T G missense_variant E1593A 4778A>C KIRC-US 12 6690533 6690533 single base substitution T G missense_variant E1596A 4787A>C KIRC-US 12 6690533 6690533 single base substitution T G upstream_gene_variant KIRC-US 12 6690827 6690827 single base substitution C T downstream_gene_variant KIRC-US 12 6690827 6690827 single base substitution C T intron_variant KIRC-US 12 6690827 6690827 single base substitution C T missense_variant V1550I 4648G>A KIRC-US 12 6690827 6690827 single base substitution C T missense_variant V1557I 4669G>A KIRC-US 12 6690827 6690827 single base substitution C T missense_variant V1582I 4744G>A KIRC-US 12 6690827 6690827 single base substitution C T missense_variant V1585I 4753G>A KIRC-US 12 6690827 6690827 single base substitution C T upstream_gene_variant KIRC-US 12 6692033 6692033 single base substitution C T exon_variant KIRC-US 12 6692033 6692033 single base substitution C T intron_variant KIRC-US 12 6692033 6692033 single base substitution C T missense_variant R1399H 4196G>A KIRC-US 12 6692033 6692033 single base substitution C T missense_variant R1406H 4217G>A KIRC-US 12 6692033 6692033 single base substitution C T missense_variant R1431H 4292G>A KIRC-US 12 6692033 6692033 single base substitution C T missense_variant R1434H 4301G>A KIRC-US 12 6692033 6692033 single base substitution C T upstream_gene_variant KIRC-US 12 6701634 6701634 single base substitution A T downstream_gene_variant KIRC-US 12 6701634 6701634 single base substitution A T exon_variant KIRC-US 12 6701634 6701634 single base substitution A T missense_variant L951H 2852T>A KIRC-US 12 6701634 6701634 single base substitution A T missense_variant L955H 2864T>A KIRC-US 12 6701634 6701634 single base substitution A T missense_variant L958H 2873T>A KIRC-US 12 6701634 6701634 single base substitution A T upstream_gene_variant KIRC-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED132D KIRC-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED136D KIRC-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED139D KIRC-US 12 6711145 6711147 deletion of <=200bp TCC - downstream_gene_variant KIRC-US 12 6711145 6711147 deletion of <=200bp TCC - exon_variant KIRC-US 12 6711145 6711147 deletion of <=200bp TCC - upstream_gene_variant KIRP-US 12 6692008 6692011 deletion of <=200bp ACTT - intron_variant KIRP-US 12 6692008 6692011 deletion of <=200bp ACTT - splice_region_variant KIRP-US 12 6692008 6692011 deletion of <=200bp ACTT - upstream_gene_variant KIRP-US 12 6707540 6707540 single base substitution G A downstream_gene_variant KIRP-US 12 6707540 6707540 single base substitution G A stop_gained Q505* 1513C>T KIRP-US 12 6707540 6707540 single base substitution G A stop_gained Q509* 1525C>T KIRP-US 12 6707540 6707540 single base substitution G A stop_gained Q512* 1534C>T KIRP-US 12 6707540 6707540 single base substitution G A upstream_gene_variant KIRP-US 12 6711561 6711561 single base substitution C G exon_variant KIRP-US 12 6711561 6711561 single base substitution C G missense_variant S65T 194G>C KIRP-US 12 6711561 6711561 single base substitution C G missense_variant S68T 203G>C KIRP-US 12 6711561 6711561 single base substitution C G upstream_gene_variant LAML-KR 12 6677481 6677481 single base substitution G T downstream_gene_variant LAML-KR 12 6715422 6715422 single base substitution C T intron_variant LAML-KR 12 6715422 6715422 single base substitution C T upstream_gene_variant LGG-US 12 6675419 6675419 single base substitution C A downstream_gene_variant LGG-US 12 6701875 6701875 single base substitution G A downstream_gene_variant LGG-US 12 6701875 6701875 single base substitution G A exon_variant LGG-US 12 6701875 6701875 single base substitution G A missense_variant P914S 2740C>T LGG-US 12 6701875 6701875 single base substitution G A missense_variant P918S 2752C>T LGG-US 12 6701875 6701875 single base substitution G A missense_variant P921S 2761C>T LGG-US 12 6701875 6701875 single base substitution G A upstream_gene_variant LGG-US 12 6702730 6702730 single base substitution T C downstream_gene_variant LGG-US 12 6702730 6702730 single base substitution T C missense_variant N782S 2345A>G LGG-US 12 6702730 6702730 single base substitution T C missense_variant N786S 2357A>G LGG-US 12 6702730 6702730 single base substitution T C missense_variant N789S 2366A>G LGG-US 12 6702730 6702730 single base substitution T C upstream_gene_variant LGG-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED132D LGG-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED136D LGG-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED139D LGG-US 12 6711145 6711147 deletion of <=200bp TCC - downstream_gene_variant LGG-US 12 6711145 6711147 deletion of <=200bp TCC - exon_variant LGG-US 12 6711145 6711147 deletion of <=200bp TCC - upstream_gene_variant LICA-CN 12 6704575 6704575 single base substitution T A downstream_gene_variant LICA-CN 12 6704575 6704575 single base substitution T A missense_variant E675D 2025A>T LICA-CN 12 6704575 6704575 single base substitution T A missense_variant E679D 2037A>T LICA-CN 12 6704575 6704575 single base substitution T A missense_variant E682D 2046A>T LICA-CN 12 6704575 6704575 single base substitution T A upstream_gene_variant LICA-CN 12 6707532 6707532 single base substitution T C downstream_gene_variant LICA-CN 12 6707532 6707532 single base substitution T C synonymous_variant P507P 1521A>G LICA-CN 12 6707532 6707532 single base substitution T C synonymous_variant P511P 1533A>G LICA-CN 12 6707532 6707532 single base substitution T C synonymous_variant P514P 1542A>G LICA-CN 12 6707532 6707532 single base substitution T C upstream_gene_variant LICA-FR 12 6683919 6683919 single base substitution C A downstream_gene_variant LICA-FR 12 6683919 6683919 single base substitution C A intron_variant LICA-FR 12 6683919 6683919 single base substitution C A upstream_gene_variant LICA-FR 12 6701868 6701868 single base substitution C T downstream_gene_variant LICA-FR 12 6701868 6701868 single base substitution C T exon_variant LICA-FR 12 6701868 6701868 single base substitution C T missense_variant R916K 2747G>A LICA-FR 12 6701868 6701868 single base substitution C T missense_variant R920K 2759G>A LICA-FR 12 6701868 6701868 single base substitution C T missense_variant R923K 2768G>A LICA-FR 12 6701868 6701868 single base substitution C T upstream_gene_variant LICA-FR 12 6705653 6705653 deletion of <=200bp A - downstream_gene_variant LICA-FR 12 6705653 6705653 deletion of <=200bp A - intron_variant LICA-FR 12 6705653 6705653 deletion of <=200bp A - upstream_gene_variant LICA-FR 12 6707447 6707449 deletion of <=200bp ACT - disruptive_inframe_deletion QF535L LICA-FR 12 6707447 6707449 deletion of <=200bp ACT - disruptive_inframe_deletion QF539L LICA-FR 12 6707447 6707449 deletion of <=200bp ACT - disruptive_inframe_deletion QF542L LICA-FR 12 6707447 6707449 deletion of <=200bp ACT - downstream_gene_variant LICA-FR 12 6707447 6707449 deletion of <=200bp ACT - upstream_gene_variant LICA-FR 12 6709000 6709000 single base substitution T C downstream_gene_variant LICA-FR 12 6709000 6709000 single base substitution T C exon_variant LICA-FR 12 6709000 6709000 single base substitution T C missense_variant H467R 1400A>G LICA-FR 12 6709000 6709000 single base substitution T C missense_variant H471R 1412A>G LICA-FR 12 6709000 6709000 single base substitution T C missense_variant H474R 1421A>G LICA-FR 12 6709000 6709000 single base substitution T C upstream_gene_variant LIHC-US 12 6690892 6690892 single base substitution G A downstream_gene_variant LIHC-US 12 6690892 6690892 single base substitution G A intron_variant LIHC-US 12 6690892 6690892 single base substitution G A missense_variant S1528L 4583C>T LIHC-US 12 6690892 6690892 single base substitution G A missense_variant S1535L 4604C>T LIHC-US 12 6690892 6690892 single base substitution G A missense_variant S1560L 4679C>T LIHC-US 12 6690892 6690892 single base substitution G A missense_variant S1563L 4688C>T LIHC-US 12 6690892 6690892 single base substitution G A upstream_gene_variant LIHC-US 12 6692504 6692504 single base substitution T C exon_variant LIHC-US 12 6692504 6692504 single base substitution T C intron_variant LIHC-US 12 6692504 6692504 single base substitution T C missense_variant E1300G 3899A>G LIHC-US 12 6692504 6692504 single base substitution T C missense_variant E1304G 3911A>G LIHC-US 12 6692504 6692504 single base substitution T C missense_variant E1307G 3920A>G LIHC-US 12 6692504 6692504 single base substitution T C upstream_gene_variant LIHC-US 12 6701152 6701152 single base substitution G A downstream_gene_variant LIHC-US 12 6701152 6701152 single base substitution G A exon_variant LIHC-US 12 6701152 6701152 single base substitution G A missense_variant S1000F 2999C>T LIHC-US 12 6701152 6701152 single base substitution G A missense_variant S1004F 3011C>T LIHC-US 12 6701152 6701152 single base substitution G A missense_variant S1007F 3020C>T LIHC-US 12 6701152 6701152 single base substitution G A upstream_gene_variant LIHC-US 12 6703766 6703778 deletion of <=200bp TCCACCTGTAGCA - downstream_gene_variant LIHC-US 12 6703766 6703778 deletion of <=200bp TCCACCTGTAGCA - frameshift_variant DATGG713 LIHC-US 12 6703766 6703778 deletion of <=200bp TCCACCTGTAGCA - frameshift_variant DATGG717 LIHC-US 12 6703766 6703778 deletion of <=200bp TCCACCTGTAGCA - frameshift_variant DATGG720 LIHC-US 12 6703766 6703778 deletion of <=200bp TCCACCTGTAGCA - upstream_gene_variant LIHC-US 12 6710565 6710565 single base substitution G A downstream_gene_variant LIHC-US 12 6710565 6710565 single base substitution G A missense_variant A223V 668C>T LIHC-US 12 6710565 6710565 single base substitution G A missense_variant A227V 680C>T LIHC-US 12 6710565 6710565 single base substitution G A missense_variant A230V 689C>T LIHC-US 12 6710565 6710565 single base substitution G A upstream_gene_variant LINC-JP 12 6676089 6676089 single base substitution A G downstream_gene_variant LINC-JP 12 6679003 6679003 single base substitution A C downstream_gene_variant LINC-JP 12 6686726 6686726 single base substitution T C downstream_gene_variant LINC-JP 12 6686726 6686726 single base substitution T C intron_variant LINC-JP 12 6687610 6687610 single base substitution C T downstream_gene_variant LINC-JP 12 6687610 6687610 single base substitution C T missense_variant R1688H 5063G>A LINC-JP 12 6687610 6687610 single base substitution C T missense_variant R1695H 5084G>A LINC-JP 12 6687610 6687610 single base substitution C T missense_variant R1720H 5159G>A LINC-JP 12 6687610 6687610 single base substitution C T missense_variant R1723H 5168G>A LINC-JP 12 6691443 6691443 single base substitution A G exon_variant LINC-JP 12 6691443 6691443 single base substitution A G intron_variant LINC-JP 12 6691443 6691443 single base substitution A G missense_variant Y1452H 4354T>C LINC-JP 12 6691443 6691443 single base substitution A G missense_variant Y1459H 4375T>C LINC-JP 12 6691443 6691443 single base substitution A G missense_variant Y1484H 4450T>C LINC-JP 12 6691443 6691443 single base substitution A G missense_variant Y1487H 4459T>C LINC-JP 12 6691443 6691443 single base substitution A G upstream_gene_variant LINC-JP 12 6696704 6696720 deletion of <=200bp TCTCCCTCTTTGTTGTC - downstream_gene_variant LINC-JP 12 6696704 6696720 deletion of <=200bp TCTCCCTCTTTGTTGTC - exon_variant LINC-JP 12 6696704 6696720 deletion of <=200bp TCTCCCTCTTTGTTGTC - frameshift_variant DNKEGE1230 LINC-JP 12 6696704 6696720 deletion of <=200bp TCTCCCTCTTTGTTGTC - frameshift_variant DNKEGE1234 LINC-JP 12 6696704 6696720 deletion of <=200bp TCTCCCTCTTTGTTGTC - frameshift_variant DNKEGE1237 LINC-JP 12 6696704 6696720 deletion of <=200bp TCTCCCTCTTTGTTGTC - intron_variant LINC-JP 12 6697146 6697146 single base substitution T C downstream_gene_variant LINC-JP 12 6697146 6697146 single base substitution T C intron_variant LINC-JP 12 6697146 6697146 single base substitution T C upstream_gene_variant LINC-JP 12 6697147 6697147 single base substitution T A downstream_gene_variant LINC-JP 12 6697147 6697147 single base substitution T A intron_variant LINC-JP 12 6697147 6697147 single base substitution T A upstream_gene_variant LINC-JP 12 6702187 6702187 single base substitution C T downstream_gene_variant LINC-JP 12 6702187 6702187 single base substitution C T intron_variant LINC-JP 12 6702187 6702187 single base substitution C T upstream_gene_variant LINC-JP 12 6703650 6703650 single base substitution A C downstream_gene_variant LINC-JP 12 6703650 6703650 single base substitution A C missense_variant V756G 2267T>G LINC-JP 12 6703650 6703650 single base substitution A C missense_variant V760G 2279T>G LINC-JP 12 6703650 6703650 single base substitution A C missense_variant V763G 2288T>G LINC-JP 12 6703650 6703650 single base substitution A C upstream_gene_variant LINC-JP 12 6707270 6707270 single base substitution G C downstream_gene_variant LINC-JP 12 6707270 6707270 single base substitution G C splice_region_variant LINC-JP 12 6707270 6707270 single base substitution G C upstream_gene_variant LINC-JP 12 6707532 6707532 single base substitution T C downstream_gene_variant LINC-JP 12 6707532 6707532 single base substitution T C synonymous_variant P507P 1521A>G LINC-JP 12 6707532 6707532 single base substitution T C synonymous_variant P511P 1533A>G LINC-JP 12 6707532 6707532 single base substitution T C synonymous_variant P514P 1542A>G LINC-JP 12 6707532 6707532 single base substitution T C upstream_gene_variant LINC-JP 12 6709985 6709985 single base substitution C T downstream_gene_variant LINC-JP 12 6709985 6709985 single base substitution C T intron_variant LINC-JP 12 6709985 6709985 single base substitution C T upstream_gene_variant LINC-JP 12 6710567 6710567 single base substitution C A downstream_gene_variant LINC-JP 12 6710567 6710567 single base substitution C A synonymous_variant A222A 666G>T LINC-JP 12 6710567 6710567 single base substitution C A synonymous_variant A226A 678G>T LINC-JP 12 6710567 6710567 single base substitution C A synonymous_variant A229A 687G>T LINC-JP 12 6710567 6710567 single base substitution C A upstream_gene_variant LIRI-JP 12 6676099 6676099 single base substitution T C downstream_gene_variant LIRI-JP 12 6676998 6676998 single base substitution G T downstream_gene_variant LIRI-JP 12 6677165 6677165 single base substitution T C downstream_gene_variant LIRI-JP 12 6682794 6682794 single base substitution T C intron_variant LIRI-JP 12 6682794 6682794 single base substitution T C upstream_gene_variant LIRI-JP 12 6683371 6683371 single base substitution T G downstream_gene_variant LIRI-JP 12 6683371 6683371 single base substitution T G intron_variant LIRI-JP 12 6683371 6683371 single base substitution T G upstream_gene_variant LIRI-JP 12 6684264 6684264 single base substitution T G downstream_gene_variant LIRI-JP 12 6684264 6684264 single base substitution T G intron_variant LIRI-JP 12 6684264 6684264 single base substitution T G upstream_gene_variant LIRI-JP 12 6684871 6684871 single base substitution T C downstream_gene_variant LIRI-JP 12 6684871 6684871 single base substitution T C intron_variant LIRI-JP 12 6684871 6684871 single base substitution T C upstream_gene_variant LIRI-JP 12 6685783 6685783 single base substitution G C downstream_gene_variant LIRI-JP 12 6685783 6685783 single base substitution G C intron_variant LIRI-JP 12 6691672 6691672 single base substitution C T intron_variant LIRI-JP 12 6691672 6691672 single base substitution C T upstream_gene_variant LIRI-JP 12 6693629 6693629 single base substitution C T intron_variant LIRI-JP 12 6693629 6693629 single base substitution C T upstream_gene_variant LIRI-JP 12 6696885 6696885 single base substitution A T downstream_gene_variant LIRI-JP 12 6696885 6696885 single base substitution A T exon_variant LIRI-JP 12 6696885 6696885 single base substitution A T intron_variant LIRI-JP 12 6696885 6696885 single base substitution A T synonymous_variant T1225T 3675T>A LIRI-JP 12 6696885 6696885 single base substitution A T synonymous_variant T1229T 3687T>A LIRI-JP 12 6696885 6696885 single base substitution A T synonymous_variant T1232T 3696T>A LIRI-JP 12 6698732 6698732 single base substitution A G downstream_gene_variant LIRI-JP 12 6698732 6698732 single base substitution A G intron_variant LIRI-JP 12 6698732 6698732 single base substitution A G upstream_gene_variant LIRI-JP 12 6700692 6700692 single base substitution C T downstream_gene_variant LIRI-JP 12 6700692 6700692 single base substitution C T exon_variant LIRI-JP 12 6700692 6700692 single base substitution C T intron_variant LIRI-JP 12 6700692 6700692 single base substitution C T missense_variant E1087K 3259G>A LIRI-JP 12 6700692 6700692 single base substitution C T missense_variant E1091K 3271G>A LIRI-JP 12 6700692 6700692 single base substitution C T missense_variant E1094K 3280G>A LIRI-JP 12 6700692 6700692 single base substitution C T upstream_gene_variant LIRI-JP 12 6707250 6707250 single base substitution G A downstream_gene_variant LIRI-JP 12 6707250 6707250 single base substitution G A stop_gained Q561* 1681C>T LIRI-JP 12 6707250 6707250 single base substitution G A stop_gained Q565* 1693C>T LIRI-JP 12 6707250 6707250 single base substitution G A stop_gained Q568* 1702C>T LIRI-JP 12 6707250 6707250 single base substitution G A upstream_gene_variant LIRI-JP 12 6710709 6710709 single base substitution T C downstream_gene_variant LIRI-JP 12 6710709 6710709 single base substitution T C intron_variant LIRI-JP 12 6710709 6710709 single base substitution T C upstream_gene_variant LIRI-JP 12 6711703 6711703 single base substitution T G intron_variant LIRI-JP 12 6711703 6711703 single base substitution T G upstream_gene_variant LIRI-JP 12 6711790 6711790 single base substitution T C intron_variant LIRI-JP 12 6711790 6711790 single base substitution T C upstream_gene_variant LIRI-JP 12 6714234 6714234 single base substitution T C intron_variant LIRI-JP 12 6714234 6714234 single base substitution T C upstream_gene_variant LIRI-JP 12 6714828 6714828 single base substitution T C intron_variant LIRI-JP 12 6714828 6714828 single base substitution T C upstream_gene_variant LIRI-JP 12 6719387 6719387 single base substitution C T upstream_gene_variant LUSC-KR 12 6674595 6674595 single base substitution C A downstream_gene_variant LUSC-KR 12 6674596 6674596 single base substitution T A downstream_gene_variant LUSC-KR 12 6674597 6674597 single base substitution C T downstream_gene_variant LUSC-KR 12 6688937 6688937 single base substitution T A downstream_gene_variant LUSC-KR 12 6688937 6688937 single base substitution T A intron_variant LUSC-KR 12 6699318 6699318 single base substitution C A downstream_gene_variant LUSC-KR 12 6699318 6699318 single base substitution C A intron_variant LUSC-KR 12 6699318 6699318 single base substitution C A upstream_gene_variant LUSC-KR 12 6705990 6705990 single base substitution G C downstream_gene_variant LUSC-KR 12 6705990 6705990 single base substitution G C intron_variant LUSC-KR 12 6705990 6705990 single base substitution G C upstream_gene_variant LUSC-KR 12 6706637 6706637 single base substitution A T downstream_gene_variant LUSC-KR 12 6706637 6706637 single base substitution A T intron_variant LUSC-KR 12 6706637 6706637 single base substitution A T upstream_gene_variant LUSC-KR 12 6711144 6711144 single base substitution A C downstream_gene_variant LUSC-KR 12 6711144 6711144 single base substitution A C exon_variant LUSC-KR 12 6711144 6711144 single base substitution A C missense_variant D133E 399T>G LUSC-KR 12 6711144 6711144 single base substitution A C missense_variant D137E 411T>G LUSC-KR 12 6711144 6711144 single base substitution A C missense_variant D140E 420T>G LUSC-KR 12 6711144 6711144 single base substitution A C upstream_gene_variant LUSC-KR 12 6717727 6717727 single base substitution A T upstream_gene_variant LUSC-US 12 6675952 6675952 single base substitution G A downstream_gene_variant LUSC-US 12 6690881 6690881 single base substitution T C downstream_gene_variant LUSC-US 12 6690881 6690881 single base substitution T C intron_variant LUSC-US 12 6690881 6690881 single base substitution T C missense_variant K1532E 4594A>G LUSC-US 12 6690881 6690881 single base substitution T C missense_variant K1539E 4615A>G LUSC-US 12 6690881 6690881 single base substitution T C missense_variant K1564E 4690A>G LUSC-US 12 6690881 6690881 single base substitution T C missense_variant K1567E 4699A>G LUSC-US 12 6690881 6690881 single base substitution T C upstream_gene_variant LUSC-US 12 6696654 6696654 single base substitution C G downstream_gene_variant LUSC-US 12 6696654 6696654 single base substitution C G exon_variant LUSC-US 12 6696654 6696654 single base substitution C G intron_variant LUSC-US 12 6696654 6696654 single base substitution C G missense_variant D1252H 3754G>C LUSC-US 12 6696654 6696654 single base substitution C G missense_variant D1256H 3766G>C LUSC-US 12 6696654 6696654 single base substitution C G missense_variant D1259H 3775G>C LUSC-US 12 6696922 6696922 single base substitution T C downstream_gene_variant LUSC-US 12 6696922 6696922 single base substitution T C exon_variant LUSC-US 12 6696922 6696922 single base substitution T C intron_variant LUSC-US 12 6696922 6696922 single base substitution T C missense_variant K1213R 3638A>G LUSC-US 12 6696922 6696922 single base substitution T C missense_variant K1217R 3650A>G LUSC-US 12 6696922 6696922 single base substitution T C missense_variant K1220R 3659A>G LUSC-US 12 6700653 6700653 single base substitution C G downstream_gene_variant LUSC-US 12 6700653 6700653 single base substitution C G exon_variant LUSC-US 12 6700653 6700653 single base substitution C G intron_variant LUSC-US 12 6700653 6700653 single base substitution C G missense_variant E1100Q 3298G>C LUSC-US 12 6700653 6700653 single base substitution C G missense_variant E1104Q 3310G>C LUSC-US 12 6700653 6700653 single base substitution C G missense_variant E1107Q 3319G>C LUSC-US 12 6700653 6700653 single base substitution C G upstream_gene_variant LUSC-US 12 6703658 6703658 single base substitution C G downstream_gene_variant LUSC-US 12 6703658 6703658 single base substitution C G missense_variant Q753H 2259G>C LUSC-US 12 6703658 6703658 single base substitution C G missense_variant Q757H 2271G>C LUSC-US 12 6703658 6703658 single base substitution C G missense_variant Q760H 2280G>C LUSC-US 12 6703658 6703658 single base substitution C G upstream_gene_variant LUSC-US 12 6703741 6703741 single base substitution C A downstream_gene_variant LUSC-US 12 6703741 6703741 single base substitution C A missense_variant G726C 2176G>T LUSC-US 12 6703741 6703741 single base substitution C A missense_variant G730C 2188G>T LUSC-US 12 6703741 6703741 single base substitution C A missense_variant G733C 2197G>T LUSC-US 12 6703741 6703741 single base substitution C A upstream_gene_variant LUSC-US 12 6707131 6707131 single base substitution C T downstream_gene_variant LUSC-US 12 6707131 6707131 single base substitution C T exon_variant LUSC-US 12 6707131 6707131 single base substitution C T synonymous_variant E600E 1800G>A LUSC-US 12 6707131 6707131 single base substitution C T synonymous_variant E604E 1812G>A LUSC-US 12 6707131 6707131 single base substitution C T synonymous_variant E607E 1821G>A MALY-DE 12 6693721 6693721 single base substitution T C intron_variant MALY-DE 12 6693721 6693721 single base substitution T C upstream_gene_variant MALY-DE 12 6694391 6694391 deletion of <=200bp T - intron_variant MALY-DE 12 6694391 6694391 deletion of <=200bp T - upstream_gene_variant MALY-DE 12 6695568 6695571 deletion of <=200bp AAAT - downstream_gene_variant MALY-DE 12 6695568 6695571 deletion of <=200bp AAAT - intron_variant MALY-DE 12 6696696 6696696 single base substitution T G downstream_gene_variant MALY-DE 12 6696696 6696696 single base substitution T G exon_variant MALY-DE 12 6696696 6696696 single base substitution T G intron_variant MALY-DE 12 6696696 6696696 single base substitution T G missense_variant S1238R 3712A>C MALY-DE 12 6696696 6696696 single base substitution T G missense_variant S1242R 3724A>C MALY-DE 12 6696696 6696696 single base substitution T G missense_variant S1245R 3733A>C MALY-DE 12 6701640 6701640 single base substitution C T downstream_gene_variant MALY-DE 12 6701640 6701640 single base substitution C T exon_variant MALY-DE 12 6701640 6701640 single base substitution C T missense_variant R949Q 2846G>A MALY-DE 12 6701640 6701640 single base substitution C T missense_variant R953Q 2858G>A MALY-DE 12 6701640 6701640 single base substitution C T missense_variant R956Q 2867G>A MALY-DE 12 6701640 6701640 single base substitution C T upstream_gene_variant MALY-DE 12 6707080 6707080 single base substitution G T downstream_gene_variant MALY-DE 12 6707080 6707080 single base substitution G T exon_variant MALY-DE 12 6707080 6707080 single base substitution G T synonymous_variant I617I 1851C>A MALY-DE 12 6707080 6707080 single base substitution G T synonymous_variant I621I 1863C>A MALY-DE 12 6707080 6707080 single base substitution G T synonymous_variant I624I 1872C>A MALY-DE 12 6707883 6707883 single base substitution G A downstream_gene_variant MALY-DE 12 6707883 6707883 single base substitution G A intron_variant MALY-DE 12 6707883 6707883 single base substitution G A upstream_gene_variant MALY-DE 12 6709337 6709337 single base substitution C T downstream_gene_variant MALY-DE 12 6709337 6709337 single base substitution C T intron_variant MALY-DE 12 6709337 6709337 single base substitution C T upstream_gene_variant MELA-AU 12 6675048 6675048 single base substitution G A downstream_gene_variant MELA-AU 12 6675614 6675614 single base substitution C A downstream_gene_variant MELA-AU 12 6676189 6676189 single base substitution G A downstream_gene_variant MELA-AU 12 6676534 6676534 single base substitution C T downstream_gene_variant MELA-AU 12 6676791 6676791 single base substitution C T downstream_gene_variant MELA-AU 12 6677287 6677287 single base substitution G A downstream_gene_variant MELA-AU 12 6677509 6677509 single base substitution C T downstream_gene_variant MELA-AU 12 6677876 6677876 single base substitution G A downstream_gene_variant MELA-AU 12 6678076 6678076 single base substitution G A downstream_gene_variant MELA-AU 12 6678725 6678726 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 6679373 6679373 single base substitution C T 3_prime_UTR_variant MELA-AU 12 6679373 6679373 single base substitution C T downstream_gene_variant MELA-AU 12 6679746 6679746 single base substitution A C 3_prime_UTR_variant MELA-AU 12 6679746 6679746 single base substitution A C exon_variant MELA-AU 12 6680710 6680710 single base substitution G A intron_variant MELA-AU 12 6680710 6680710 single base substitution G A upstream_gene_variant MELA-AU 12 6681765 6681765 single base substitution T C intron_variant MELA-AU 12 6681765 6681765 single base substitution T C upstream_gene_variant MELA-AU 12 6681801 6681801 single base substitution C T intron_variant MELA-AU 12 6681801 6681801 single base substitution C T upstream_gene_variant MELA-AU 12 6682337 6682337 single base substitution G A synonymous_variant T1813T 5439C>T MELA-AU 12 6682337 6682337 single base substitution G A synonymous_variant T1820T 5460C>T MELA-AU 12 6682337 6682337 single base substitution G A synonymous_variant T1845T 5535C>T MELA-AU 12 6682337 6682337 single base substitution G A synonymous_variant T1848T 5544C>T MELA-AU 12 6682337 6682337 single base substitution G A upstream_gene_variant MELA-AU 12 6682563 6682563 single base substitution G A intron_variant MELA-AU 12 6682563 6682563 single base substitution G A upstream_gene_variant MELA-AU 12 6684385 6684385 single base substitution G A downstream_gene_variant MELA-AU 12 6684385 6684385 single base substitution G A intron_variant MELA-AU 12 6684385 6684385 single base substitution G A upstream_gene_variant MELA-AU 12 6684910 6684910 single base substitution C T downstream_gene_variant MELA-AU 12 6684910 6684910 single base substitution C T intron_variant MELA-AU 12 6684910 6684910 single base substitution C T upstream_gene_variant MELA-AU 12 6685521 6685521 single base substitution C A downstream_gene_variant MELA-AU 12 6685521 6685521 single base substitution C A intron_variant MELA-AU 12 6687311 6687311 single base substitution G A downstream_gene_variant MELA-AU 12 6687311 6687311 single base substitution G A splice_region_variant MELA-AU 12 6687860 6687860 single base substitution G A downstream_gene_variant MELA-AU 12 6687860 6687860 single base substitution G A intron_variant MELA-AU 12 6688033 6688033 single base substitution G A downstream_gene_variant MELA-AU 12 6688033 6688033 single base substitution G A exon_variant MELA-AU 12 6688033 6688033 single base substitution G A missense_variant P1647S 4939C>T MELA-AU 12 6688033 6688033 single base substitution G A missense_variant P1654S 4960C>T MELA-AU 12 6688033 6688033 single base substitution G A missense_variant P1679S 5035C>T MELA-AU 12 6688033 6688033 single base substitution G A missense_variant P1682S 5044C>T MELA-AU 12 6689169 6689170 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 12 6689169 6689170 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 12 6690091 6690091 single base substitution C T downstream_gene_variant MELA-AU 12 6690091 6690091 single base substitution C T intron_variant MELA-AU 12 6690229 6690230 multiple base substitution (>=2bp and <=200bp) AG CA downstream_gene_variant MELA-AU 12 6690229 6690230 multiple base substitution (>=2bp and <=200bp) AG CA exon_variant MELA-AU 12 6690229 6690230 multiple base substitution (>=2bp and <=200bp) AG CA missense_variant P1623L 4868CT>TG MELA-AU 12 6690229 6690230 multiple base substitution (>=2bp and <=200bp) AG CA missense_variant P1630L 4889CT>TG MELA-AU 12 6690229 6690230 multiple base substitution (>=2bp and <=200bp) AG CA missense_variant P1655L 4964CT>TG MELA-AU 12 6690229 6690230 multiple base substitution (>=2bp and <=200bp) AG CA missense_variant P1658L 4973CT>TG MELA-AU 12 6690601 6690601 single base substitution A T downstream_gene_variant MELA-AU 12 6690601 6690601 single base substitution A T intron_variant MELA-AU 12 6690601 6690601 single base substitution A T upstream_gene_variant MELA-AU 12 6690785 6690785 single base substitution G A downstream_gene_variant MELA-AU 12 6690785 6690785 single base substitution G A intron_variant MELA-AU 12 6690785 6690785 single base substitution G A upstream_gene_variant MELA-AU 12 6690977 6690977 single base substitution G A downstream_gene_variant MELA-AU 12 6690977 6690977 single base substitution G A intron_variant MELA-AU 12 6690977 6690977 single base substitution G A stop_gained Q1500* 4498C>T MELA-AU 12 6690977 6690977 single base substitution G A stop_gained Q1507* 4519C>T MELA-AU 12 6690977 6690977 single base substitution G A stop_gained Q1532* 4594C>T MELA-AU 12 6690977 6690977 single base substitution G A stop_gained Q1535* 4603C>T MELA-AU 12 6690977 6690977 single base substitution G A upstream_gene_variant MELA-AU 12 6693221 6693221 single base substitution G A intron_variant MELA-AU 12 6693221 6693221 single base substitution G A upstream_gene_variant MELA-AU 12 6693512 6693512 single base substitution G A intron_variant MELA-AU 12 6693512 6693512 single base substitution G A upstream_gene_variant MELA-AU 12 6693739 6693739 single base substitution G A intron_variant MELA-AU 12 6693739 6693739 single base substitution G A upstream_gene_variant MELA-AU 12 6694218 6694218 single base substitution G A intron_variant MELA-AU 12 6694218 6694218 single base substitution G A upstream_gene_variant MELA-AU 12 6694274 6694275 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 6694274 6694275 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 6694848 6694848 single base substitution G A intron_variant MELA-AU 12 6694848 6694848 single base substitution G A upstream_gene_variant MELA-AU 12 6694930 6694930 single base substitution G A intron_variant MELA-AU 12 6694930 6694930 single base substitution G A upstream_gene_variant MELA-AU 12 6695106 6695106 single base substitution C T intron_variant MELA-AU 12 6695106 6695106 single base substitution C T upstream_gene_variant MELA-AU 12 6695714 6695714 deletion of <=200bp G - downstream_gene_variant MELA-AU 12 6695714 6695714 deletion of <=200bp G - intron_variant MELA-AU 12 6695803 6695803 single base substitution C G downstream_gene_variant MELA-AU 12 6695803 6695803 single base substitution C G intron_variant MELA-AU 12 6695952 6695952 single base substitution C T downstream_gene_variant MELA-AU 12 6695952 6695952 single base substitution C T intron_variant MELA-AU 12 6695988 6695988 single base substitution C T downstream_gene_variant MELA-AU 12 6695988 6695988 single base substitution C T intron_variant MELA-AU 12 6696027 6696027 single base substitution C G downstream_gene_variant MELA-AU 12 6696027 6696027 single base substitution C G intron_variant MELA-AU 12 6696379 6696379 single base substitution G A downstream_gene_variant MELA-AU 12 6696379 6696379 single base substitution G A intron_variant MELA-AU 12 6698518 6698518 single base substitution G A downstream_gene_variant MELA-AU 12 6698518 6698518 single base substitution G A intron_variant MELA-AU 12 6698518 6698518 single base substitution G A upstream_gene_variant MELA-AU 12 6700070 6700070 single base substitution C A downstream_gene_variant MELA-AU 12 6700070 6700070 single base substitution C A intron_variant MELA-AU 12 6700070 6700070 single base substitution C A upstream_gene_variant MELA-AU 12 6700777 6700777 single base substitution G A downstream_gene_variant MELA-AU 12 6700777 6700777 single base substitution G A intron_variant MELA-AU 12 6700777 6700777 single base substitution G A upstream_gene_variant MELA-AU 12 6701874 6701874 single base substitution G A downstream_gene_variant MELA-AU 12 6701874 6701874 single base substitution G A exon_variant MELA-AU 12 6701874 6701874 single base substitution G A missense_variant P914L 2741C>T MELA-AU 12 6701874 6701874 single base substitution G A missense_variant P918L 2753C>T MELA-AU 12 6701874 6701874 single base substitution G A missense_variant P921L 2762C>T MELA-AU 12 6701874 6701874 single base substitution G A upstream_gene_variant MELA-AU 12 6701935 6701935 single base substitution T A downstream_gene_variant MELA-AU 12 6701935 6701935 single base substitution T A missense_variant T894S 2680A>T MELA-AU 12 6701935 6701935 single base substitution T A missense_variant T898S 2692A>T MELA-AU 12 6701935 6701935 single base substitution T A missense_variant T901S 2701A>T MELA-AU 12 6701935 6701935 single base substitution T A upstream_gene_variant MELA-AU 12 6702381 6702381 single base substitution A G downstream_gene_variant MELA-AU 12 6702381 6702381 single base substitution A G missense_variant V836A 2507T>C MELA-AU 12 6702381 6702381 single base substitution A G missense_variant V840A 2519T>C MELA-AU 12 6702381 6702381 single base substitution A G missense_variant V843A 2528T>C MELA-AU 12 6702381 6702381 single base substitution A G upstream_gene_variant MELA-AU 12 6702466 6702466 single base substitution T G downstream_gene_variant MELA-AU 12 6702466 6702466 single base substitution T G intron_variant MELA-AU 12 6702466 6702466 single base substitution T G upstream_gene_variant MELA-AU 12 6702505 6702505 single base substitution G A downstream_gene_variant MELA-AU 12 6702505 6702505 single base substitution G A intron_variant MELA-AU 12 6702505 6702505 single base substitution G A upstream_gene_variant MELA-AU 12 6702700 6702700 single base substitution G A downstream_gene_variant MELA-AU 12 6702700 6702700 single base substitution G A missense_variant P792L 2375C>T MELA-AU 12 6702700 6702700 single base substitution G A missense_variant P796L 2387C>T MELA-AU 12 6702700 6702700 single base substitution G A missense_variant P799L 2396C>T MELA-AU 12 6702700 6702700 single base substitution G A upstream_gene_variant MELA-AU 12 6702742 6702742 single base substitution G A downstream_gene_variant MELA-AU 12 6702742 6702742 single base substitution G A missense_variant S778F 2333C>T MELA-AU 12 6702742 6702742 single base substitution G A missense_variant S782F 2345C>T MELA-AU 12 6702742 6702742 single base substitution G A missense_variant S785F 2354C>T MELA-AU 12 6702742 6702742 single base substitution G A upstream_gene_variant MELA-AU 12 6703467 6703467 single base substitution C T downstream_gene_variant MELA-AU 12 6703467 6703467 single base substitution C T intron_variant MELA-AU 12 6703467 6703467 single base substitution C T upstream_gene_variant MELA-AU 12 6703773 6703773 single base substitution G A downstream_gene_variant MELA-AU 12 6703773 6703773 single base substitution G A missense_variant T715I 2144C>T MELA-AU 12 6703773 6703773 single base substitution G A missense_variant T719I 2156C>T MELA-AU 12 6703773 6703773 single base substitution G A missense_variant T722I 2165C>T MELA-AU 12 6703773 6703773 single base substitution G A upstream_gene_variant MELA-AU 12 6703996 6703996 single base substitution G A downstream_gene_variant MELA-AU 12 6703996 6703996 single base substitution G A intron_variant MELA-AU 12 6703996 6703996 single base substitution G A upstream_gene_variant MELA-AU 12 6704371 6704371 single base substitution G A downstream_gene_variant MELA-AU 12 6704371 6704371 single base substitution G A intron_variant MELA-AU 12 6704371 6704371 single base substitution G A upstream_gene_variant MELA-AU 12 6704932 6704932 single base substitution G A downstream_gene_variant MELA-AU 12 6704932 6704932 single base substitution G A intron_variant MELA-AU 12 6704932 6704932 single base substitution G A upstream_gene_variant MELA-AU 12 6705428 6705428 deletion of <=200bp C - downstream_gene_variant MELA-AU 12 6705428 6705428 deletion of <=200bp C - intron_variant MELA-AU 12 6705428 6705428 deletion of <=200bp C - upstream_gene_variant MELA-AU 12 6705867 6705867 single base substitution G A downstream_gene_variant MELA-AU 12 6705867 6705867 single base substitution G A intron_variant MELA-AU 12 6705867 6705867 single base substitution G A upstream_gene_variant MELA-AU 12 6706671 6706671 single base substitution G T downstream_gene_variant MELA-AU 12 6706671 6706671 single base substitution G T intron_variant MELA-AU 12 6706671 6706671 single base substitution G T upstream_gene_variant MELA-AU 12 6707112 6707112 single base substitution G A downstream_gene_variant MELA-AU 12 6707112 6707112 single base substitution G A exon_variant MELA-AU 12 6707112 6707112 single base substitution G A missense_variant R607C 1819C>T MELA-AU 12 6707112 6707112 single base substitution G A missense_variant R611C 1831C>T MELA-AU 12 6707112 6707112 single base substitution G A missense_variant R614C 1840C>T MELA-AU 12 6707275 6707275 single base substitution G A downstream_gene_variant MELA-AU 12 6707275 6707275 single base substitution G A intron_variant MELA-AU 12 6707275 6707275 single base substitution G A upstream_gene_variant MELA-AU 12 6707951 6707951 single base substitution G A downstream_gene_variant MELA-AU 12 6707951 6707951 single base substitution G A intron_variant MELA-AU 12 6707951 6707951 single base substitution G A upstream_gene_variant MELA-AU 12 6708139 6708139 single base substitution C T downstream_gene_variant MELA-AU 12 6708139 6708139 single base substitution C T intron_variant MELA-AU 12 6708139 6708139 single base substitution C T upstream_gene_variant MELA-AU 12 6708761 6708761 single base substitution G A downstream_gene_variant MELA-AU 12 6708761 6708761 single base substitution G A intron_variant MELA-AU 12 6708761 6708761 single base substitution G A upstream_gene_variant MELA-AU 12 6708888 6708888 single base substitution G A downstream_gene_variant MELA-AU 12 6708888 6708888 single base substitution G A intron_variant MELA-AU 12 6708888 6708888 single base substitution G A upstream_gene_variant MELA-AU 12 6709122 6709122 single base substitution G A downstream_gene_variant MELA-AU 12 6709122 6709122 single base substitution G A exon_variant MELA-AU 12 6709122 6709122 single base substitution G A synonymous_variant I426I 1278C>T MELA-AU 12 6709122 6709122 single base substitution G A synonymous_variant I430I 1290C>T MELA-AU 12 6709122 6709122 single base substitution G A synonymous_variant I433I 1299C>T MELA-AU 12 6709122 6709122 single base substitution G A upstream_gene_variant MELA-AU 12 6709258 6709258 single base substitution G A downstream_gene_variant MELA-AU 12 6709258 6709258 single base substitution G A intron_variant MELA-AU 12 6709258 6709258 single base substitution G A upstream_gene_variant MELA-AU 12 6709332 6709332 single base substitution C T downstream_gene_variant MELA-AU 12 6709332 6709332 single base substitution C T intron_variant MELA-AU 12 6709332 6709332 single base substitution C T upstream_gene_variant MELA-AU 12 6709675 6709675 single base substitution A C downstream_gene_variant MELA-AU 12 6709675 6709675 single base substitution A C intron_variant MELA-AU 12 6709675 6709675 single base substitution A C upstream_gene_variant MELA-AU 12 6709742 6709743 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 6709742 6709743 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 12 6709742 6709743 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant SR333SC MELA-AU 12 6709742 6709743 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant SR337SC MELA-AU 12 6709742 6709743 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant SR340SC MELA-AU 12 6709742 6709743 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 6709898 6709898 single base substitution G A downstream_gene_variant MELA-AU 12 6709898 6709898 single base substitution G A intron_variant MELA-AU 12 6709898 6709898 single base substitution G A upstream_gene_variant MELA-AU 12 6710123 6710123 single base substitution C T downstream_gene_variant MELA-AU 12 6710123 6710123 single base substitution C T exon_variant MELA-AU 12 6710123 6710123 single base substitution C T missense_variant G292E 875G>A MELA-AU 12 6710123 6710123 single base substitution C T missense_variant G296E 887G>A MELA-AU 12 6710123 6710123 single base substitution C T missense_variant G299E 896G>A MELA-AU 12 6710123 6710123 single base substitution C T upstream_gene_variant MELA-AU 12 6710131 6710131 single base substitution G A downstream_gene_variant MELA-AU 12 6710131 6710131 single base substitution G A exon_variant MELA-AU 12 6710131 6710131 single base substitution G A synonymous_variant I289I 867C>T MELA-AU 12 6710131 6710131 single base substitution G A synonymous_variant I293I 879C>T MELA-AU 12 6710131 6710131 single base substitution G A synonymous_variant I296I 888C>T MELA-AU 12 6710131 6710131 single base substitution G A upstream_gene_variant MELA-AU 12 6710142 6710142 single base substitution G A downstream_gene_variant MELA-AU 12 6710142 6710142 single base substitution G A exon_variant MELA-AU 12 6710142 6710142 single base substitution G A missense_variant P286S 856C>T MELA-AU 12 6710142 6710142 single base substitution G A missense_variant P290S 868C>T MELA-AU 12 6710142 6710142 single base substitution G A missense_variant P293S 877C>T MELA-AU 12 6710142 6710142 single base substitution G A upstream_gene_variant MELA-AU 12 6710877 6710877 single base substitution T A downstream_gene_variant MELA-AU 12 6710877 6710877 single base substitution T A missense_variant H158L 473A>T MELA-AU 12 6710877 6710877 single base substitution T A missense_variant H162L 485A>T MELA-AU 12 6710877 6710877 single base substitution T A missense_variant H165L 494A>T MELA-AU 12 6710877 6710877 single base substitution T A upstream_gene_variant MELA-AU 12 6714368 6714368 single base substitution C T intron_variant MELA-AU 12 6714368 6714368 single base substitution C T upstream_gene_variant MELA-AU 12 6714851 6714851 single base substitution C T intron_variant MELA-AU 12 6714851 6714851 single base substitution C T upstream_gene_variant MELA-AU 12 6715448 6715448 single base substitution G A missense_variant P31L 92C>T MELA-AU 12 6715448 6715448 single base substitution G A upstream_gene_variant MELA-AU 12 6715600 6715600 single base substitution C T 5_prime_UTR_variant MELA-AU 12 6715600 6715600 single base substitution C T upstream_gene_variant MELA-AU 12 6719272 6719272 single base substitution C T upstream_gene_variant MELA-AU 12 6719623 6719623 single base substitution G A upstream_gene_variant MELA-AU 12 6719629 6719629 single base substitution C T upstream_gene_variant MELA-AU 12 6719680 6719680 single base substitution A G upstream_gene_variant MELA-AU 12 6719989 6719989 single base substitution C T upstream_gene_variant MELA-AU 12 6720204 6720204 single base substitution C T upstream_gene_variant MELA-AU 12 6720597 6720597 single base substitution C T upstream_gene_variant MELA-AU 12 6720619 6720619 single base substitution C T upstream_gene_variant MELA-AU 12 6720995 6720995 single base substitution C G upstream_gene_variant ORCA-IN 12 6675164 6675164 single base substitution C T downstream_gene_variant ORCA-IN 12 6688018 6688018 single base substitution C A downstream_gene_variant ORCA-IN 12 6688018 6688018 single base substitution C A exon_variant ORCA-IN 12 6688018 6688018 single base substitution C A missense_variant D1652Y 4954G>T ORCA-IN 12 6688018 6688018 single base substitution C A missense_variant D1659Y 4975G>T ORCA-IN 12 6688018 6688018 single base substitution C A missense_variant D1684Y 5050G>T ORCA-IN 12 6688018 6688018 single base substitution C A missense_variant D1687Y 5059G>T ORCA-IN 12 6692366 6692366 single base substitution C T intron_variant ORCA-IN 12 6692366 6692366 single base substitution C T missense_variant R1346Q 4037G>A ORCA-IN 12 6692366 6692366 single base substitution C T missense_variant R1350Q 4049G>A ORCA-IN 12 6692366 6692366 single base substitution C T missense_variant R1353Q 4058G>A ORCA-IN 12 6692366 6692366 single base substitution C T splice_region_variant ORCA-IN 12 6692366 6692366 single base substitution C T upstream_gene_variant ORCA-IN 12 6702701 6702701 single base substitution G C downstream_gene_variant ORCA-IN 12 6702701 6702701 single base substitution G C missense_variant P792A 2374C>G ORCA-IN 12 6702701 6702701 single base substitution G C missense_variant P796A 2386C>G ORCA-IN 12 6702701 6702701 single base substitution G C missense_variant P799A 2395C>G ORCA-IN 12 6702701 6702701 single base substitution G C upstream_gene_variant ORCA-IN 12 6711315 6711315 single base substitution C T exon_variant ORCA-IN 12 6711315 6711315 single base substitution C T synonymous_variant G76G 228G>A ORCA-IN 12 6711315 6711315 single base substitution C T synonymous_variant G80G 240G>A ORCA-IN 12 6711315 6711315 single base substitution C T synonymous_variant G83G 249G>A ORCA-IN 12 6711315 6711315 single base substitution C T upstream_gene_variant ORCA-IN 12 6720326 6720326 single base substitution G C upstream_gene_variant OV-AU 12 6675714 6675714 single base substitution C A downstream_gene_variant OV-AU 12 6676192 6676192 single base substitution T G downstream_gene_variant OV-AU 12 6676952 6676952 single base substitution A T downstream_gene_variant OV-AU 12 6677405 6677405 single base substitution C T downstream_gene_variant OV-AU 12 6689392 6689392 single base substitution C A downstream_gene_variant OV-AU 12 6689392 6689392 single base substitution C A intron_variant OV-AU 12 6690022 6690022 single base substitution A C downstream_gene_variant OV-AU 12 6690022 6690022 single base substitution A C intron_variant OV-AU 12 6690182 6690182 single base substitution C G downstream_gene_variant OV-AU 12 6690182 6690182 single base substitution C G intron_variant OV-AU 12 6697951 6697951 single base substitution A C downstream_gene_variant OV-AU 12 6697951 6697951 single base substitution A C intron_variant OV-AU 12 6697951 6697951 single base substitution A C upstream_gene_variant OV-AU 12 6700658 6700658 single base substitution C T downstream_gene_variant OV-AU 12 6700658 6700658 single base substitution C T exon_variant OV-AU 12 6700658 6700658 single base substitution C T intron_variant OV-AU 12 6700658 6700658 single base substitution C T missense_variant R1098Q 3293G>A OV-AU 12 6700658 6700658 single base substitution C T missense_variant R1102Q 3305G>A OV-AU 12 6700658 6700658 single base substitution C T missense_variant R1105Q 3314G>A OV-AU 12 6700658 6700658 single base substitution C T upstream_gene_variant OV-AU 12 6707820 6707820 single base substitution C G downstream_gene_variant OV-AU 12 6707820 6707820 single base substitution C G intron_variant OV-AU 12 6707820 6707820 single base substitution C G upstream_gene_variant OV-AU 12 6710435 6710435 single base substitution C G downstream_gene_variant OV-AU 12 6710435 6710435 single base substitution C G intron_variant OV-AU 12 6710435 6710435 single base substitution C G upstream_gene_variant OV-AU 12 6717086 6717086 single base substitution T A upstream_gene_variant OV-US 12 6675291 6675291 single base substitution A C downstream_gene_variant OV-US 12 6701183 6701183 single base substitution G A downstream_gene_variant OV-US 12 6701183 6701183 single base substitution G A exon_variant OV-US 12 6701183 6701183 single base substitution G A missense_variant L990F 2968C>T OV-US 12 6701183 6701183 single base substitution G A missense_variant L994F 2980C>T OV-US 12 6701183 6701183 single base substitution G A missense_variant L997F 2989C>T OV-US 12 6701183 6701183 single base substitution G A upstream_gene_variant PACA-AU 12 6677017 6677017 single base substitution C A downstream_gene_variant PACA-AU 12 6681669 6681669 single base substitution G A intron_variant PACA-AU 12 6681669 6681669 single base substitution G A upstream_gene_variant PACA-AU 12 6689094 6689094 single base substitution C T downstream_gene_variant PACA-AU 12 6689094 6689094 single base substitution C T intron_variant PACA-AU 12 6692960 6692960 single base substitution C T intron_variant PACA-AU 12 6692960 6692960 single base substitution C T upstream_gene_variant PACA-AU 12 6694195 6694195 single base substitution G A intron_variant PACA-AU 12 6694195 6694195 single base substitution G A upstream_gene_variant PACA-AU 12 6695581 6695581 single base substitution A C downstream_gene_variant PACA-AU 12 6695581 6695581 single base substitution A C intron_variant PACA-AU 12 6701626 6701626 single base substitution C T downstream_gene_variant PACA-AU 12 6701626 6701626 single base substitution C T exon_variant PACA-AU 12 6701626 6701626 single base substitution C T missense_variant D954N 2860G>A PACA-AU 12 6701626 6701626 single base substitution C T missense_variant D958N 2872G>A PACA-AU 12 6701626 6701626 single base substitution C T missense_variant D961N 2881G>A PACA-AU 12 6701626 6701626 single base substitution C T upstream_gene_variant PACA-AU 12 6706686 6706686 single base substitution T C downstream_gene_variant PACA-AU 12 6706686 6706686 single base substitution T C intron_variant PACA-AU 12 6706686 6706686 single base substitution T C upstream_gene_variant PACA-AU 12 6708581 6708581 single base substitution G A downstream_gene_variant PACA-AU 12 6708581 6708581 single base substitution G A intron_variant PACA-AU 12 6708581 6708581 single base substitution G A upstream_gene_variant PACA-AU 12 6709724 6709724 single base substitution G A downstream_gene_variant PACA-AU 12 6709724 6709724 single base substitution G A exon_variant PACA-AU 12 6709724 6709724 single base substitution G A stop_gained R340* 1018C>T PACA-AU 12 6709724 6709724 single base substitution G A stop_gained R344* 1030C>T PACA-AU 12 6709724 6709724 single base substitution G A stop_gained R347* 1039C>T PACA-AU 12 6709724 6709724 single base substitution G A upstream_gene_variant PACA-AU 12 6710041 6710041 single base substitution C A downstream_gene_variant PACA-AU 12 6710041 6710041 single base substitution C A intron_variant PACA-AU 12 6710041 6710041 single base substitution C A upstream_gene_variant PACA-AU 12 6718295 6718295 single base substitution C A upstream_gene_variant PACA-AU 12 6721390 6721390 single base substitution C A upstream_gene_variant PACA-CA 12 6674952 6674952 single base substitution A G downstream_gene_variant PACA-CA 12 6678372 6678372 single base substitution G A downstream_gene_variant PACA-CA 12 6679542 6679542 single base substitution G A 3_prime_UTR_variant PACA-CA 12 6679542 6679542 single base substitution G A exon_variant PACA-CA 12 6681142 6681142 single base substitution A T intron_variant PACA-CA 12 6681142 6681142 single base substitution A T upstream_gene_variant PACA-CA 12 6682658 6682658 single base substitution T C intron_variant PACA-CA 12 6682658 6682658 single base substitution T C upstream_gene_variant PACA-CA 12 6686177 6686177 single base substitution A G downstream_gene_variant PACA-CA 12 6686177 6686177 single base substitution A G intron_variant PACA-CA 12 6688607 6688607 single base substitution G A downstream_gene_variant PACA-CA 12 6688607 6688607 single base substitution G A intron_variant PACA-CA 12 6692845 6692845 single base substitution T C intron_variant PACA-CA 12 6692845 6692845 single base substitution T C upstream_gene_variant PACA-CA 12 6693578 6693578 single base substitution T A intron_variant PACA-CA 12 6693578 6693578 single base substitution T A upstream_gene_variant PACA-CA 12 6694864 6694864 single base substitution A C intron_variant PACA-CA 12 6694864 6694864 single base substitution A C upstream_gene_variant PACA-CA 12 6694966 6694966 insertion of <=200bp - C intron_variant PACA-CA 12 6694966 6694966 insertion of <=200bp - C upstream_gene_variant PACA-CA 12 6695261 6695261 single base substitution G A intron_variant PACA-CA 12 6695261 6695261 single base substitution G A upstream_gene_variant PACA-CA 12 6697473 6697473 insertion of <=200bp - T downstream_gene_variant PACA-CA 12 6697473 6697473 insertion of <=200bp - T frameshift_variant N1145N? PACA-CA 12 6697473 6697473 insertion of <=200bp - T frameshift_variant N1149N? PACA-CA 12 6697473 6697473 insertion of <=200bp - T frameshift_variant N1152N? PACA-CA 12 6697473 6697473 insertion of <=200bp - T intron_variant PACA-CA 12 6697473 6697473 insertion of <=200bp - T upstream_gene_variant PACA-CA 12 6698335 6698335 single base substitution C T downstream_gene_variant PACA-CA 12 6698335 6698335 single base substitution C T intron_variant PACA-CA 12 6698335 6698335 single base substitution C T upstream_gene_variant PACA-CA 12 6699186 6699186 single base substitution G A downstream_gene_variant PACA-CA 12 6699186 6699186 single base substitution G A intron_variant PACA-CA 12 6699186 6699186 single base substitution G A upstream_gene_variant PACA-CA 12 6700641 6700641 single base substitution G A downstream_gene_variant PACA-CA 12 6700641 6700641 single base substitution G A exon_variant PACA-CA 12 6700641 6700641 single base substitution G A intron_variant PACA-CA 12 6700641 6700641 single base substitution G A missense_variant R1104C 3310C>T PACA-CA 12 6700641 6700641 single base substitution G A missense_variant R1108C 3322C>T PACA-CA 12 6700641 6700641 single base substitution G A missense_variant R1111C 3331C>T PACA-CA 12 6700641 6700641 single base substitution G A upstream_gene_variant PACA-CA 12 6701142 6701142 single base substitution A G downstream_gene_variant PACA-CA 12 6701142 6701142 single base substitution A G exon_variant PACA-CA 12 6701142 6701142 single base substitution A G synonymous_variant N1003N 3009T>C PACA-CA 12 6701142 6701142 single base substitution A G synonymous_variant N1007N 3021T>C PACA-CA 12 6701142 6701142 single base substitution A G synonymous_variant N1010N 3030T>C PACA-CA 12 6701142 6701142 single base substitution A G upstream_gene_variant PACA-CA 12 6703062 6703062 single base substitution C T downstream_gene_variant PACA-CA 12 6703062 6703062 single base substitution C T intron_variant PACA-CA 12 6703062 6703062 single base substitution C T upstream_gene_variant PACA-CA 12 6703553 6703553 single base substitution C T downstream_gene_variant PACA-CA 12 6703553 6703553 single base substitution C T intron_variant PACA-CA 12 6703553 6703553 single base substitution C T upstream_gene_variant PACA-CA 12 6704909 6704909 single base substitution G A downstream_gene_variant PACA-CA 12 6704909 6704909 single base substitution G A intron_variant PACA-CA 12 6704909 6704909 single base substitution G A upstream_gene_variant PACA-CA 12 6713157 6713157 single base substitution A G intron_variant PACA-CA 12 6713157 6713157 single base substitution A G upstream_gene_variant PAEN-AU 12 6679898 6679898 single base substitution T C intron_variant PAEN-AU 12 6692338 6692338 single base substitution T G intron_variant PAEN-AU 12 6692338 6692338 single base substitution T G synonymous_variant P1359P 4077A>C PAEN-AU 12 6692338 6692338 single base substitution T G synonymous_variant P1362P 4086A>C PAEN-AU 12 6692338 6692338 single base substitution T G upstream_gene_variant PAEN-AU 12 6697449 6697449 single base substitution G A downstream_gene_variant PAEN-AU 12 6697449 6697449 single base substitution G A intron_variant PAEN-AU 12 6697449 6697449 single base substitution G A upstream_gene_variant PAEN-AU 12 6697450 6697450 single base substitution C T downstream_gene_variant PAEN-AU 12 6697450 6697450 single base substitution C T intron_variant PAEN-AU 12 6697450 6697450 single base substitution C T upstream_gene_variant PAEN-AU 12 6711271 6711271 single base substitution T A exon_variant PAEN-AU 12 6711271 6711271 single base substitution T A missense_variant E91V 272A>T PAEN-AU 12 6711271 6711271 single base substitution T A missense_variant E95V 284A>T PAEN-AU 12 6711271 6711271 single base substitution T A missense_variant E98V 293A>T PAEN-AU 12 6711271 6711271 single base substitution T A upstream_gene_variant PBCA-DE 12 6686715 6686715 single base substitution C A downstream_gene_variant PBCA-DE 12 6686715 6686715 single base substitution C A intron_variant PBCA-DE 12 6693577 6693577 insertion of <=200bp - T intron_variant PBCA-DE 12 6693577 6693577 insertion of <=200bp - T upstream_gene_variant PBCA-DE 12 6696983 6696983 single base substitution G A downstream_gene_variant PBCA-DE 12 6696983 6696983 single base substitution G A exon_variant PBCA-DE 12 6696983 6696983 single base substitution G A intron_variant PBCA-DE 12 6696983 6696983 single base substitution G A missense_variant R1193W 3577C>T PBCA-DE 12 6696983 6696983 single base substitution G A missense_variant R1197W 3589C>T PBCA-DE 12 6696983 6696983 single base substitution G A missense_variant R1200W 3598C>T PBCA-DE 12 6704291 6704291 deletion of <=200bp T - downstream_gene_variant PBCA-DE 12 6704291 6704291 deletion of <=200bp T - intron_variant PBCA-DE 12 6704291 6704291 deletion of <=200bp T - upstream_gene_variant PBCA-DE 12 6708424 6708424 single base substitution C T downstream_gene_variant PBCA-DE 12 6708424 6708424 single base substitution C T intron_variant PBCA-DE 12 6708424 6708424 single base substitution C T upstream_gene_variant PBCA-DE 12 6711222 6711224 deletion of <=200bp CTT - exon_variant PBCA-DE 12 6711222 6711224 deletion of <=200bp CTT - inframe_deletion K107 PBCA-DE 12 6711222 6711224 deletion of <=200bp CTT - inframe_deletion K111 PBCA-DE 12 6711222 6711224 deletion of <=200bp CTT - inframe_deletion K114 PBCA-DE 12 6711222 6711224 deletion of <=200bp CTT - upstream_gene_variant PBCA-DE 12 6716137 6716137 insertion of <=200bp - G intron_variant PBCA-DE 12 6716137 6716137 insertion of <=200bp - G upstream_gene_variant PRAD-CA 12 6676493 6676493 single base substitution C A downstream_gene_variant PRAD-CA 12 6701892 6701892 single base substitution A C downstream_gene_variant PRAD-CA 12 6701892 6701892 single base substitution A C exon_variant PRAD-CA 12 6701892 6701892 single base substitution A C missense_variant L908R 2723T>G PRAD-CA 12 6701892 6701892 single base substitution A C missense_variant L912R 2735T>G PRAD-CA 12 6701892 6701892 single base substitution A C missense_variant L915R 2744T>G PRAD-CA 12 6701892 6701892 single base substitution A C upstream_gene_variant PRAD-CA 12 6717889 6717889 single base substitution G A upstream_gene_variant PRAD-UK 12 6674815 6674815 single base substitution A T downstream_gene_variant PRAD-UK 12 6685928 6685928 single base substitution A G downstream_gene_variant PRAD-UK 12 6685928 6685928 single base substitution A G intron_variant PRAD-UK 12 6697549 6697549 single base substitution C T downstream_gene_variant PRAD-UK 12 6697549 6697549 single base substitution C T intron_variant PRAD-UK 12 6697549 6697549 single base substitution C T missense_variant R1120Q 3359G>A PRAD-UK 12 6697549 6697549 single base substitution C T missense_variant R1124Q 3371G>A PRAD-UK 12 6697549 6697549 single base substitution C T missense_variant R1127Q 3380G>A PRAD-UK 12 6697549 6697549 single base substitution C T upstream_gene_variant PRAD-UK 12 6698019 6698019 single base substitution G A downstream_gene_variant PRAD-UK 12 6698019 6698019 single base substitution G A intron_variant PRAD-UK 12 6698019 6698019 single base substitution G A upstream_gene_variant PRAD-UK 12 6704927 6704927 single base substitution C A downstream_gene_variant PRAD-UK 12 6704927 6704927 single base substitution C A intron_variant PRAD-UK 12 6704927 6704927 single base substitution C A upstream_gene_variant PRAD-UK 12 6712862 6712862 single base substitution A C intron_variant PRAD-UK 12 6712862 6712862 single base substitution A C upstream_gene_variant PRAD-UK 12 6718767 6718767 single base substitution C A upstream_gene_variant PRAD-UK 12 6721037 6721037 single base substitution C T upstream_gene_variant PRAD-US 12 6686950 6686950 single base substitution C T downstream_gene_variant PRAD-US 12 6686950 6686950 single base substitution C T splice_donor_variant PRAD-US 12 6696651 6696651 single base substitution G A downstream_gene_variant PRAD-US 12 6696651 6696651 single base substitution G A exon_variant PRAD-US 12 6696651 6696651 single base substitution G A intron_variant PRAD-US 12 6696651 6696651 single base substitution G A missense_variant R1253C 3757C>T PRAD-US 12 6696651 6696651 single base substitution G A missense_variant R1257C 3769C>T PRAD-US 12 6696651 6696651 single base substitution G A missense_variant R1260C 3778C>T PRAD-US 12 6701672 6701672 deletion of <=200bp T - downstream_gene_variant PRAD-US 12 6701672 6701672 deletion of <=200bp T - exon_variant PRAD-US 12 6701672 6701672 deletion of <=200bp T - frameshift_variant K938 PRAD-US 12 6701672 6701672 deletion of <=200bp T - frameshift_variant K942 PRAD-US 12 6701672 6701672 deletion of <=200bp T - frameshift_variant K945 PRAD-US 12 6701672 6701672 deletion of <=200bp T - upstream_gene_variant PRAD-US 12 6703665 6703665 single base substitution G A downstream_gene_variant PRAD-US 12 6703665 6703665 single base substitution G A missense_variant T751I 2252C>T PRAD-US 12 6703665 6703665 single base substitution G A missense_variant T755I 2264C>T PRAD-US 12 6703665 6703665 single base substitution G A missense_variant T758I 2273C>T PRAD-US 12 6703665 6703665 single base substitution G A upstream_gene_variant PRAD-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED132D PRAD-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED136D PRAD-US 12 6711145 6711147 deletion of <=200bp TCC - disruptive_inframe_deletion ED139D PRAD-US 12 6711145 6711147 deletion of <=200bp TCC - downstream_gene_variant PRAD-US 12 6711145 6711147 deletion of <=200bp TCC - exon_variant PRAD-US 12 6711145 6711147 deletion of <=200bp TCC - upstream_gene_variant READ-US 12 6701945 6701945 single base substitution C T downstream_gene_variant READ-US 12 6701945 6701945 single base substitution C T synonymous_variant K890K 2670G>A READ-US 12 6701945 6701945 single base substitution C T synonymous_variant K894K 2682G>A READ-US 12 6701945 6701945 single base substitution C T synonymous_variant K897K 2691G>A READ-US 12 6701945 6701945 single base substitution C T upstream_gene_variant READ-US 12 6707453 6707453 single base substitution G A downstream_gene_variant READ-US 12 6707453 6707453 single base substitution G A missense_variant R534W 1600C>T READ-US 12 6707453 6707453 single base substitution G A missense_variant R538W 1612C>T READ-US 12 6707453 6707453 single base substitution G A missense_variant R541W 1621C>T READ-US 12 6707453 6707453 single base substitution G A upstream_gene_variant READ-US 12 6711558 6711558 single base substitution T G exon_variant READ-US 12 6711558 6711558 single base substitution T G missense_variant K66T 197A>C READ-US 12 6711558 6711558 single base substitution T G missense_variant K69T 206A>C READ-US 12 6711558 6711558 single base substitution T G upstream_gene_variant RECA-EU 12 6675024 6675024 single base substitution T C downstream_gene_variant RECA-EU 12 6677118 6677118 single base substitution C A downstream_gene_variant RECA-EU 12 6682871 6682871 single base substitution T A intron_variant RECA-EU 12 6682871 6682871 single base substitution T A upstream_gene_variant RECA-EU 12 6684900 6684900 single base substitution A T downstream_gene_variant RECA-EU 12 6684900 6684900 single base substitution A T intron_variant RECA-EU 12 6684900 6684900 single base substitution A T upstream_gene_variant RECA-EU 12 6688653 6688653 single base substitution G A downstream_gene_variant RECA-EU 12 6688653 6688653 single base substitution G A intron_variant RECA-EU 12 6698647 6698647 single base substitution A G downstream_gene_variant RECA-EU 12 6698647 6698647 single base substitution A G intron_variant RECA-EU 12 6698647 6698647 single base substitution A G upstream_gene_variant RECA-EU 12 6714931 6714931 single base substitution C G intron_variant RECA-EU 12 6714931 6714931 single base substitution C G upstream_gene_variant RECA-EU 12 6720694 6720694 single base substitution A G upstream_gene_variant SKCA-BR 12 6677429 6677429 single base substitution G A downstream_gene_variant SKCA-BR 12 6677509 6677509 single base substitution C A downstream_gene_variant SKCA-BR 12 6678670 6678670 single base substitution G A downstream_gene_variant SKCA-BR 12 6681366 6681366 single base substitution G A intron_variant SKCA-BR 12 6681366 6681366 single base substitution G A upstream_gene_variant SKCA-BR 12 6687090 6687090 single base substitution G A downstream_gene_variant SKCA-BR 12 6687090 6687090 single base substitution G A splice_region_variant SKCA-BR 12 6688234 6688235 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 12 6688234 6688235 deletion of <=200bp AT - intron_variant SKCA-BR 12 6688754 6688754 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 12 6688754 6688754 insertion of <=200bp - CA intron_variant SKCA-BR 12 6689221 6689222 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 12 6689221 6689222 deletion of <=200bp CA - intron_variant SKCA-BR 12 6691559 6691559 single base substitution G A intron_variant SKCA-BR 12 6691559 6691559 single base substitution G A upstream_gene_variant SKCA-BR 12 6693819 6693819 single base substitution G A intron_variant SKCA-BR 12 6693819 6693819 single base substitution G A upstream_gene_variant SKCA-BR 12 6695152 6695152 single base substitution G A intron_variant SKCA-BR 12 6695152 6695152 single base substitution G A upstream_gene_variant SKCA-BR 12 6697666 6697666 single base substitution G A downstream_gene_variant SKCA-BR 12 6697666 6697666 single base substitution G A intron_variant SKCA-BR 12 6697666 6697666 single base substitution G A upstream_gene_variant SKCA-BR 12 6697667 6697667 single base substitution G A downstream_gene_variant SKCA-BR 12 6697667 6697667 single base substitution G A intron_variant SKCA-BR 12 6697667 6697667 single base substitution G A upstream_gene_variant SKCA-BR 12 6699157 6699157 single base substitution G A downstream_gene_variant SKCA-BR 12 6699157 6699157 single base substitution G A intron_variant SKCA-BR 12 6699157 6699157 single base substitution G A upstream_gene_variant SKCA-BR 12 6702630 6702630 single base substitution G A downstream_gene_variant SKCA-BR 12 6702630 6702630 single base substitution G A synonymous_variant S815S 2445C>T SKCA-BR 12 6702630 6702630 single base substitution G A synonymous_variant S819S 2457C>T SKCA-BR 12 6702630 6702630 single base substitution G A synonymous_variant S822S 2466C>T SKCA-BR 12 6702630 6702630 single base substitution G A upstream_gene_variant SKCA-BR 12 6705319 6705319 single base substitution A T downstream_gene_variant SKCA-BR 12 6705319 6705319 single base substitution A T intron_variant SKCA-BR 12 6705319 6705319 single base substitution A T upstream_gene_variant SKCA-BR 12 6706198 6706198 single base substitution G A downstream_gene_variant SKCA-BR 12 6706198 6706198 single base substitution G A intron_variant SKCA-BR 12 6706198 6706198 single base substitution G A upstream_gene_variant SKCA-BR 12 6706279 6706279 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 12 6706279 6706279 insertion of <=200bp - CA intron_variant SKCA-BR 12 6706279 6706279 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 6712153 6712153 single base substitution T A exon_variant SKCA-BR 12 6712153 6712153 single base substitution T A intron_variant SKCA-BR 12 6712153 6712153 single base substitution T A upstream_gene_variant SKCA-BR 12 6716448 6716448 single base substitution A C intron_variant SKCA-BR 12 6716448 6716448 single base substitution A C upstream_gene_variant SKCM-US 12 6675298 6675298 single base substitution G A downstream_gene_variant SKCM-US 12 6675733 6675733 single base substitution G A downstream_gene_variant SKCM-US 12 6682350 6682350 single base substitution A G missense_variant M1809T 5426T>C SKCM-US 12 6682350 6682350 single base substitution A G missense_variant M1816T 5447T>C SKCM-US 12 6682350 6682350 single base substitution A G missense_variant M1841T 5522T>C SKCM-US 12 6682350 6682350 single base substitution A G missense_variant M1844T 5531T>C SKCM-US 12 6682350 6682350 single base substitution A G upstream_gene_variant SKCM-US 12 6690229 6690229 single base substitution A G downstream_gene_variant SKCM-US 12 6690229 6690229 single base substitution A G exon_variant SKCM-US 12 6690229 6690229 single base substitution A G synonymous_variant P1623P 4869T>C SKCM-US 12 6690229 6690229 single base substitution A G synonymous_variant P1630P 4890T>C SKCM-US 12 6690229 6690229 single base substitution A G synonymous_variant P1655P 4965T>C SKCM-US 12 6690229 6690229 single base substitution A G synonymous_variant P1658P 4974T>C SKCM-US 12 6690874 6690874 single base substitution G A downstream_gene_variant SKCM-US 12 6690874 6690874 single base substitution G A intron_variant SKCM-US 12 6690874 6690874 single base substitution G A missense_variant P1534L 4601C>T SKCM-US 12 6690874 6690874 single base substitution G A missense_variant P1541L 4622C>T SKCM-US 12 6690874 6690874 single base substitution G A missense_variant P1566L 4697C>T SKCM-US 12 6690874 6690874 single base substitution G A missense_variant P1569L 4706C>T SKCM-US 12 6690874 6690874 single base substitution G A upstream_gene_variant SKCM-US 12 6690903 6690903 single base substitution G A downstream_gene_variant SKCM-US 12 6690903 6690903 single base substitution G A intron_variant SKCM-US 12 6690903 6690903 single base substitution G A synonymous_variant S1524S 4572C>T SKCM-US 12 6690903 6690903 single base substitution G A synonymous_variant S1531S 4593C>T SKCM-US 12 6690903 6690903 single base substitution G A synonymous_variant S1556S 4668C>T SKCM-US 12 6690903 6690903 single base substitution G A synonymous_variant S1559S 4677C>T SKCM-US 12 6690903 6690903 single base substitution G A upstream_gene_variant SKCM-US 12 6691339 6691339 single base substitution A G exon_variant SKCM-US 12 6691339 6691339 single base substitution A G intron_variant SKCM-US 12 6691339 6691339 single base substitution A G synonymous_variant L1486L 4458T>C SKCM-US 12 6691339 6691339 single base substitution A G synonymous_variant L1493L 4479T>C SKCM-US 12 6691339 6691339 single base substitution A G synonymous_variant L1518L 4554T>C SKCM-US 12 6691339 6691339 single base substitution A G synonymous_variant L1521L 4563T>C SKCM-US 12 6691339 6691339 single base substitution A G upstream_gene_variant SKCM-US 12 6691950 6691950 single base substitution G A intron_variant SKCM-US 12 6691950 6691950 single base substitution G A upstream_gene_variant SKCM-US 12 6692060 6692060 single base substitution T A exon_variant SKCM-US 12 6692060 6692060 single base substitution T A intron_variant SKCM-US 12 6692060 6692060 single base substitution T A missense_variant D1390V 4169A>T SKCM-US 12 6692060 6692060 single base substitution T A missense_variant D1397V 4190A>T SKCM-US 12 6692060 6692060 single base substitution T A missense_variant D1422V 4265A>T SKCM-US 12 6692060 6692060 single base substitution T A missense_variant D1425V 4274A>T SKCM-US 12 6692060 6692060 single base substitution T A upstream_gene_variant SKCM-US 12 6692109 6692109 single base substitution G A intron_variant SKCM-US 12 6692109 6692109 single base substitution G A splice_region_variant SKCM-US 12 6692109 6692109 single base substitution G A upstream_gene_variant SKCM-US 12 6692231 6692231 single base substitution G A exon_variant SKCM-US 12 6692231 6692231 single base substitution G A intron_variant SKCM-US 12 6692231 6692231 single base substitution G A missense_variant S1363L 4088C>T SKCM-US 12 6692231 6692231 single base substitution G A missense_variant S1370L 4109C>T SKCM-US 12 6692231 6692231 single base substitution G A missense_variant S1395L 4184C>T SKCM-US 12 6692231 6692231 single base substitution G A missense_variant S1398L 4193C>T SKCM-US 12 6692231 6692231 single base substitution G A upstream_gene_variant SKCM-US 12 6692249 6692249 single base substitution G A exon_variant SKCM-US 12 6692249 6692249 single base substitution G A intron_variant SKCM-US 12 6692249 6692249 single base substitution G A missense_variant S1357F 4070C>T SKCM-US 12 6692249 6692249 single base substitution G A missense_variant S1364F 4091C>T SKCM-US 12 6692249 6692249 single base substitution G A missense_variant S1389F 4166C>T SKCM-US 12 6692249 6692249 single base substitution G A missense_variant S1392F 4175C>T SKCM-US 12 6692249 6692249 single base substitution G A upstream_gene_variant SKCM-US 12 6697065 6697065 single base substitution G A downstream_gene_variant SKCM-US 12 6697065 6697065 single base substitution G A intron_variant SKCM-US 12 6697065 6697065 single base substitution G A synonymous_variant Y1165Y 3495C>T SKCM-US 12 6697065 6697065 single base substitution G A synonymous_variant Y1169Y 3507C>T SKCM-US 12 6697065 6697065 single base substitution G A synonymous_variant Y1172Y 3516C>T SKCM-US 12 6697065 6697065 single base substitution G A upstream_gene_variant SKCM-US 12 6700684 6700684 single base substitution G A downstream_gene_variant SKCM-US 12 6700684 6700684 single base substitution G A exon_variant SKCM-US 12 6700684 6700684 single base substitution G A intron_variant SKCM-US 12 6700684 6700684 single base substitution G A synonymous_variant I1089I 3267C>T SKCM-US 12 6700684 6700684 single base substitution G A synonymous_variant I1093I 3279C>T SKCM-US 12 6700684 6700684 single base substitution G A synonymous_variant I1096I 3288C>T SKCM-US 12 6700684 6700684 single base substitution G A upstream_gene_variant SKCM-US 12 6700880 6700880 single base substitution G A downstream_gene_variant SKCM-US 12 6700880 6700880 single base substitution G A exon_variant SKCM-US 12 6700880 6700880 single base substitution G A missense_variant R1061C 3181C>T SKCM-US 12 6700880 6700880 single base substitution G A missense_variant R1065C 3193C>T SKCM-US 12 6700880 6700880 single base substitution G A missense_variant R1068C 3202C>T SKCM-US 12 6700880 6700880 single base substitution G A upstream_gene_variant SKCM-US 12 6700950 6700950 single base substitution G A downstream_gene_variant SKCM-US 12 6700950 6700950 single base substitution G A exon_variant SKCM-US 12 6700950 6700950 single base substitution G A synonymous_variant A1037A 3111C>T SKCM-US 12 6700950 6700950 single base substitution G A synonymous_variant A1041A 3123C>T SKCM-US 12 6700950 6700950 single base substitution G A synonymous_variant A1044A 3132C>T SKCM-US 12 6700950 6700950 single base substitution G A upstream_gene_variant SKCM-US 12 6701628 6701628 single base substitution G A downstream_gene_variant SKCM-US 12 6701628 6701628 single base substitution G A exon_variant SKCM-US 12 6701628 6701628 single base substitution G A missense_variant A953V 2858C>T SKCM-US 12 6701628 6701628 single base substitution G A missense_variant A957V 2870C>T SKCM-US 12 6701628 6701628 single base substitution G A missense_variant A960V 2879C>T SKCM-US 12 6701628 6701628 single base substitution G A upstream_gene_variant SKCM-US 12 6702265 6702265 single base substitution G A downstream_gene_variant SKCM-US 12 6702265 6702265 single base substitution G A stop_gained Q875* 2623C>T SKCM-US 12 6702265 6702265 single base substitution G A stop_gained Q879* 2635C>T SKCM-US 12 6702265 6702265 single base substitution G A stop_gained Q882* 2644C>T SKCM-US 12 6702265 6702265 single base substitution G A upstream_gene_variant SKCM-US 12 6702357 6702357 single base substitution G A downstream_gene_variant SKCM-US 12 6702357 6702357 single base substitution G A missense_variant S844F 2531C>T SKCM-US 12 6702357 6702357 single base substitution G A missense_variant S848F 2543C>T SKCM-US 12 6702357 6702357 single base substitution G A missense_variant S851F 2552C>T SKCM-US 12 6702357 6702357 single base substitution G A upstream_gene_variant SKCM-US 12 6702381 6702381 single base substitution A G downstream_gene_variant SKCM-US 12 6702381 6702381 single base substitution A G missense_variant V836A 2507T>C SKCM-US 12 6702381 6702381 single base substitution A G missense_variant V840A 2519T>C SKCM-US 12 6702381 6702381 single base substitution A G missense_variant V843A 2528T>C SKCM-US 12 6702381 6702381 single base substitution A G upstream_gene_variant SKCM-US 12 6702615 6702615 single base substitution G A downstream_gene_variant SKCM-US 12 6702615 6702615 single base substitution G A synonymous_variant A820A 2460C>T SKCM-US 12 6702615 6702615 single base substitution G A synonymous_variant A824A 2472C>T SKCM-US 12 6702615 6702615 single base substitution G A synonymous_variant A827A 2481C>T SKCM-US 12 6702615 6702615 single base substitution G A upstream_gene_variant SKCM-US 12 6702774 6702774 single base substitution G A downstream_gene_variant SKCM-US 12 6702774 6702774 single base substitution G A synonymous_variant S767S 2301C>T SKCM-US 12 6702774 6702774 single base substitution G A synonymous_variant S771S 2313C>T SKCM-US 12 6702774 6702774 single base substitution G A synonymous_variant S774S 2322C>T SKCM-US 12 6702774 6702774 single base substitution G A upstream_gene_variant SKCM-US 12 6703773 6703773 single base substitution G A downstream_gene_variant SKCM-US 12 6703773 6703773 single base substitution G A missense_variant T715I 2144C>T SKCM-US 12 6703773 6703773 single base substitution G A missense_variant T719I 2156C>T SKCM-US 12 6703773 6703773 single base substitution G A missense_variant T722I 2165C>T SKCM-US 12 6703773 6703773 single base substitution G A upstream_gene_variant SKCM-US 12 6705212 6705212 single base substitution G A downstream_gene_variant SKCM-US 12 6705212 6705212 single base substitution G A exon_variant SKCM-US 12 6705212 6705212 single base substitution G A stop_gained Q655* 1963C>T SKCM-US 12 6705212 6705212 single base substitution G A stop_gained Q659* 1975C>T SKCM-US 12 6705212 6705212 single base substitution G A stop_gained Q662* 1984C>T SKCM-US 12 6705212 6705212 single base substitution G A upstream_gene_variant SKCM-US 12 6705270 6705270 single base substitution G A downstream_gene_variant SKCM-US 12 6705270 6705270 single base substitution G A exon_variant SKCM-US 12 6705270 6705270 single base substitution G A synonymous_variant I635I 1905C>T SKCM-US 12 6705270 6705270 single base substitution G A synonymous_variant I639I 1917C>T SKCM-US 12 6705270 6705270 single base substitution G A synonymous_variant I642I 1926C>T SKCM-US 12 6705270 6705270 single base substitution G A upstream_gene_variant SKCM-US 12 6705279 6705279 single base substitution G A downstream_gene_variant SKCM-US 12 6705279 6705279 single base substitution G A exon_variant SKCM-US 12 6705279 6705279 single base substitution G A synonymous_variant H632H 1896C>T SKCM-US 12 6705279 6705279 single base substitution G A synonymous_variant H636H 1908C>T SKCM-US 12 6705279 6705279 single base substitution G A synonymous_variant H639H 1917C>T SKCM-US 12 6705279 6705279 single base substitution G A upstream_gene_variant SKCM-US 12 6707398 6707398 single base substitution G A downstream_gene_variant SKCM-US 12 6707398 6707398 single base substitution G A missense_variant S552F 1655C>T SKCM-US 12 6707398 6707398 single base substitution G A missense_variant S556F 1667C>T SKCM-US 12 6707398 6707398 single base substitution G A missense_variant S559F 1676C>T SKCM-US 12 6707398 6707398 single base substitution G A upstream_gene_variant SKCM-US 12 6707587 6707587 single base substitution G A downstream_gene_variant SKCM-US 12 6707587 6707587 single base substitution G A missense_variant P489L 1466C>T SKCM-US 12 6707587 6707587 single base substitution G A missense_variant P493L 1478C>T SKCM-US 12 6707587 6707587 single base substitution G A missense_variant P496L 1487C>T SKCM-US 12 6707587 6707587 single base substitution G A upstream_gene_variant SKCM-US 12 6709001 6709001 single base substitution G A downstream_gene_variant SKCM-US 12 6709001 6709001 single base substitution G A exon_variant SKCM-US 12 6709001 6709001 single base substitution G A missense_variant H467Y 1399C>T SKCM-US 12 6709001 6709001 single base substitution G A missense_variant H471Y 1411C>T SKCM-US 12 6709001 6709001 single base substitution G A missense_variant H474Y 1420C>T SKCM-US 12 6709001 6709001 single base substitution G A upstream_gene_variant SKCM-US 12 6709724 6709724 single base substitution G A downstream_gene_variant SKCM-US 12 6709724 6709724 single base substitution G A exon_variant SKCM-US 12 6709724 6709724 single base substitution G A stop_gained R340* 1018C>T SKCM-US 12 6709724 6709724 single base substitution G A stop_gained R344* 1030C>T SKCM-US 12 6709724 6709724 single base substitution G A stop_gained R347* 1039C>T SKCM-US 12 6709724 6709724 single base substitution G A upstream_gene_variant SKCM-US 12 6710107 6710107 insertion of <=200bp - T downstream_gene_variant SKCM-US 12 6710107 6710107 insertion of <=200bp - T exon_variant SKCM-US 12 6710107 6710107 insertion of <=200bp - T frameshift_variant K297K? SKCM-US 12 6710107 6710107 insertion of <=200bp - T frameshift_variant K301K? SKCM-US 12 6710107 6710107 insertion of <=200bp - T frameshift_variant K304K? SKCM-US 12 6710107 6710107 insertion of <=200bp - T upstream_gene_variant SKCM-US 12 6710877 6710877 single base substitution T A downstream_gene_variant SKCM-US 12 6710877 6710877 single base substitution T A missense_variant H158L 473A>T SKCM-US 12 6710877 6710877 single base substitution T A missense_variant H162L 485A>T SKCM-US 12 6710877 6710877 single base substitution T A missense_variant H165L 494A>T SKCM-US 12 6710877 6710877 single base substitution T A upstream_gene_variant SKCM-US 12 6711546 6711546 deletion of <=200bp T - exon_variant SKCM-US 12 6711546 6711546 deletion of <=200bp T - frameshift_variant K70 SKCM-US 12 6711546 6711546 deletion of <=200bp T - frameshift_variant K73 SKCM-US 12 6711546 6711546 deletion of <=200bp T - upstream_gene_variant SKCM-US 12 6715448 6715448 single base substitution G A missense_variant P31L 92C>T SKCM-US 12 6715448 6715448 single base substitution G A upstream_gene_variant STAD-US 12 6675296 6675296 single base substitution T C downstream_gene_variant STAD-US 12 6675951 6675951 single base substitution A G downstream_gene_variant STAD-US 12 6680085 6680085 single base substitution T C exon_variant STAD-US 12 6680085 6680085 single base substitution T C missense_variant N1884D 5650A>G STAD-US 12 6680085 6680085 single base substitution T C missense_variant N1891D 5671A>G STAD-US 12 6680085 6680085 single base substitution T C missense_variant N1916D 5746A>G STAD-US 12 6680085 6680085 single base substitution T C missense_variant N1919D 5755A>G STAD-US 12 6680117 6680118 deletion of <=200bp GG - exon_variant STAD-US 12 6680117 6680118 deletion of <=200bp GG - frameshift_variant P1873 STAD-US 12 6680117 6680118 deletion of <=200bp GG - frameshift_variant P1880 STAD-US 12 6680117 6680118 deletion of <=200bp GG - frameshift_variant P1905 STAD-US 12 6680117 6680118 deletion of <=200bp GG - frameshift_variant P1908 STAD-US 12 6682399 6682399 single base substitution G A missense_variant R1793C 5377C>T STAD-US 12 6682399 6682399 single base substitution G A missense_variant R1800C 5398C>T STAD-US 12 6682399 6682399 single base substitution G A missense_variant R1825C 5473C>T STAD-US 12 6682399 6682399 single base substitution G A missense_variant R1828C 5482C>T STAD-US 12 6682399 6682399 single base substitution G A upstream_gene_variant STAD-US 12 6686958 6686958 single base substitution C A downstream_gene_variant STAD-US 12 6686958 6686958 single base substitution C A missense_variant R1778M 5333G>T STAD-US 12 6686958 6686958 single base substitution C A missense_variant R1785M 5354G>T STAD-US 12 6686958 6686958 single base substitution C A missense_variant R1810M 5429G>T STAD-US 12 6686958 6686958 single base substitution C A missense_variant R1813M 5438G>T STAD-US 12 6687040 6687040 single base substitution A G downstream_gene_variant STAD-US 12 6687040 6687040 single base substitution A G missense_variant Y1751H 5251T>C STAD-US 12 6687040 6687040 single base substitution A G missense_variant Y1758H 5272T>C STAD-US 12 6687040 6687040 single base substitution A G missense_variant Y1783H 5347T>C STAD-US 12 6687040 6687040 single base substitution A G missense_variant Y1786H 5356T>C STAD-US 12 6687228 6687228 single base substitution C A downstream_gene_variant STAD-US 12 6687228 6687228 single base substitution C A missense_variant R1725L 5174G>T STAD-US 12 6687228 6687228 single base substitution C A missense_variant R1732L 5195G>T STAD-US 12 6687228 6687228 single base substitution C A missense_variant R1757L 5270G>T STAD-US 12 6687228 6687228 single base substitution C A missense_variant R1760L 5279G>T STAD-US 12 6687229 6687229 single base substitution G A downstream_gene_variant STAD-US 12 6687229 6687229 single base substitution G A missense_variant R1725W 5173C>T STAD-US 12 6687229 6687229 single base substitution G A missense_variant R1732W 5194C>T STAD-US 12 6687229 6687229 single base substitution G A missense_variant R1757W 5269C>T STAD-US 12 6687229 6687229 single base substitution G A missense_variant R1760W 5278C>T STAD-US 12 6688047 6688047 single base substitution G A downstream_gene_variant STAD-US 12 6688047 6688047 single base substitution G A exon_variant STAD-US 12 6688047 6688047 single base substitution G A missense_variant A1642V 4925C>T STAD-US 12 6688047 6688047 single base substitution G A missense_variant A1649V 4946C>T STAD-US 12 6688047 6688047 single base substitution G A missense_variant A1674V 5021C>T STAD-US 12 6688047 6688047 single base substitution G A missense_variant A1677V 5030C>T STAD-US 12 6690489 6690489 single base substitution C A downstream_gene_variant STAD-US 12 6690489 6690489 single base substitution C A intron_variant STAD-US 12 6690489 6690489 single base substitution C A missense_variant V1576F 4726G>T STAD-US 12 6690489 6690489 single base substitution C A missense_variant V1583F 4747G>T STAD-US 12 6690489 6690489 single base substitution C A missense_variant V1608F 4822G>T STAD-US 12 6690489 6690489 single base substitution C A missense_variant V1611F 4831G>T STAD-US 12 6690489 6690489 single base substitution C A upstream_gene_variant STAD-US 12 6690868 6690868 single base substitution G A downstream_gene_variant STAD-US 12 6690868 6690868 single base substitution G A intron_variant STAD-US 12 6690868 6690868 single base substitution G A missense_variant P1536L 4607C>T STAD-US 12 6690868 6690868 single base substitution G A missense_variant P1543L 4628C>T STAD-US 12 6690868 6690868 single base substitution G A missense_variant P1568L 4703C>T STAD-US 12 6690868 6690868 single base substitution G A missense_variant P1571L 4712C>T STAD-US 12 6690868 6690868 single base substitution G A upstream_gene_variant STAD-US 12 6691863 6691863 single base substitution G A exon_variant STAD-US 12 6691863 6691863 single base substitution G A intron_variant STAD-US 12 6691863 6691863 single base substitution G A stop_gained R1423* 4267C>T STAD-US 12 6691863 6691863 single base substitution G A stop_gained R1430* 4288C>T STAD-US 12 6691863 6691863 single base substitution G A stop_gained R1455* 4363C>T STAD-US 12 6691863 6691863 single base substitution G A stop_gained R1458* 4372C>T STAD-US 12 6691863 6691863 single base substitution G A upstream_gene_variant STAD-US 12 6692034 6692034 single base substitution G A exon_variant STAD-US 12 6692034 6692034 single base substitution G A intron_variant STAD-US 12 6692034 6692034 single base substitution G A missense_variant R1399C 4195C>T STAD-US 12 6692034 6692034 single base substitution G A missense_variant R1406C 4216C>T STAD-US 12 6692034 6692034 single base substitution G A missense_variant R1431C 4291C>T STAD-US 12 6692034 6692034 single base substitution G A missense_variant R1434C 4300C>T STAD-US 12 6692034 6692034 single base substitution G A upstream_gene_variant STAD-US 12 6692213 6692213 single base substitution T C exon_variant STAD-US 12 6692213 6692213 single base substitution T C intron_variant STAD-US 12 6692213 6692213 single base substitution T C missense_variant D1369G 4106A>G STAD-US 12 6692213 6692213 single base substitution T C missense_variant D1376G 4127A>G STAD-US 12 6692213 6692213 single base substitution T C missense_variant D1401G 4202A>G STAD-US 12 6692213 6692213 single base substitution T C missense_variant D1404G 4211A>G STAD-US 12 6692213 6692213 single base substitution T C upstream_gene_variant STAD-US 12 6692236 6692236 single base substitution C A exon_variant STAD-US 12 6692236 6692236 single base substitution C A intron_variant STAD-US 12 6692236 6692236 single base substitution C A synonymous_variant V1361V 4083G>T STAD-US 12 6692236 6692236 single base substitution C A synonymous_variant V1368V 4104G>T STAD-US 12 6692236 6692236 single base substitution C A synonymous_variant V1393V 4179G>T STAD-US 12 6692236 6692236 single base substitution C A synonymous_variant V1396V 4188G>T STAD-US 12 6692236 6692236 single base substitution C A upstream_gene_variant STAD-US 12 6692406 6692406 single base substitution G A exon_variant STAD-US 12 6692406 6692406 single base substitution G A intron_variant STAD-US 12 6692406 6692406 single base substitution G A missense_variant R1333C 3997C>T STAD-US 12 6692406 6692406 single base substitution G A missense_variant R1337C 4009C>T STAD-US 12 6692406 6692406 single base substitution G A missense_variant R1340C 4018C>T STAD-US 12 6692406 6692406 single base substitution G A upstream_gene_variant STAD-US 12 6692411 6692411 single base substitution C A exon_variant STAD-US 12 6692411 6692411 single base substitution C A intron_variant STAD-US 12 6692411 6692411 single base substitution C A missense_variant R1331I 3992G>T STAD-US 12 6692411 6692411 single base substitution C A missense_variant R1335I 4004G>T STAD-US 12 6692411 6692411 single base substitution C A missense_variant R1338I 4013G>T STAD-US 12 6692411 6692411 single base substitution C A upstream_gene_variant STAD-US 12 6692419 6692419 single base substitution T G exon_variant STAD-US 12 6692419 6692419 single base substitution T G intron_variant STAD-US 12 6692419 6692419 single base substitution T G missense_variant K1328N 3984A>C STAD-US 12 6692419 6692419 single base substitution T G missense_variant K1332N 3996A>C STAD-US 12 6692419 6692419 single base substitution T G missense_variant K1335N 4005A>C STAD-US 12 6692419 6692419 single base substitution T G upstream_gene_variant STAD-US 12 6696642 6696642 single base substitution C T downstream_gene_variant STAD-US 12 6696642 6696642 single base substitution C T exon_variant STAD-US 12 6696642 6696642 single base substitution C T intron_variant STAD-US 12 6696642 6696642 single base substitution C T missense_variant D1256N 3766G>A STAD-US 12 6696642 6696642 single base substitution C T missense_variant D1260N 3778G>A STAD-US 12 6696642 6696642 single base substitution C T missense_variant D1263N 3787G>A STAD-US 12 6696652 6696652 single base substitution G A downstream_gene_variant STAD-US 12 6696652 6696652 single base substitution G A exon_variant STAD-US 12 6696652 6696652 single base substitution G A intron_variant STAD-US 12 6696652 6696652 single base substitution G A synonymous_variant D1252D 3756C>T STAD-US 12 6696652 6696652 single base substitution G A synonymous_variant D1256D 3768C>T STAD-US 12 6696652 6696652 single base substitution G A synonymous_variant D1259D 3777C>T STAD-US 12 6697051 6697051 single base substitution C T downstream_gene_variant STAD-US 12 6697051 6697051 single base substitution C T intron_variant STAD-US 12 6697051 6697051 single base substitution C T missense_variant R1170H 3509G>A STAD-US 12 6697051 6697051 single base substitution C T missense_variant R1174H 3521G>A STAD-US 12 6697051 6697051 single base substitution C T missense_variant R1177H 3530G>A STAD-US 12 6697051 6697051 single base substitution C T upstream_gene_variant STAD-US 12 6700638 6700638 single base substitution A G downstream_gene_variant STAD-US 12 6700638 6700638 single base substitution A G exon_variant STAD-US 12 6700638 6700638 single base substitution A G intron_variant STAD-US 12 6700638 6700638 single base substitution A G missense_variant F1105L 3313T>C STAD-US 12 6700638 6700638 single base substitution A G missense_variant F1109L 3325T>C STAD-US 12 6700638 6700638 single base substitution A G missense_variant F1112L 3334T>C STAD-US 12 6700638 6700638 single base substitution A G upstream_gene_variant STAD-US 12 6700658 6700658 single base substitution C T downstream_gene_variant STAD-US 12 6700658 6700658 single base substitution C T exon_variant STAD-US 12 6700658 6700658 single base substitution C T intron_variant STAD-US 12 6700658 6700658 single base substitution C T missense_variant R1098Q 3293G>A STAD-US 12 6700658 6700658 single base substitution C T missense_variant R1102Q 3305G>A STAD-US 12 6700658 6700658 single base substitution C T missense_variant R1105Q 3314G>A STAD-US 12 6700658 6700658 single base substitution C T upstream_gene_variant STAD-US 12 6700956 6700956 single base substitution G A downstream_gene_variant STAD-US 12 6700956 6700956 single base substitution G A exon_variant STAD-US 12 6700956 6700956 single base substitution G A synonymous_variant G1035G 3105C>T STAD-US 12 6700956 6700956 single base substitution G A synonymous_variant G1039G 3117C>T STAD-US 12 6700956 6700956 single base substitution G A synonymous_variant G1042G 3126C>T STAD-US 12 6700956 6700956 single base substitution G A upstream_gene_variant STAD-US 12 6701093 6701093 single base substitution C T downstream_gene_variant STAD-US 12 6701093 6701093 single base substitution C T exon_variant STAD-US 12 6701093 6701093 single base substitution C T missense_variant V1020M 3058G>A STAD-US 12 6701093 6701093 single base substitution C T missense_variant V1024M 3070G>A STAD-US 12 6701093 6701093 single base substitution C T missense_variant V1027M 3079G>A STAD-US 12 6701093 6701093 single base substitution C T upstream_gene_variant STAD-US 12 6701626 6701626 single base substitution C T downstream_gene_variant STAD-US 12 6701626 6701626 single base substitution C T exon_variant STAD-US 12 6701626 6701626 single base substitution C T missense_variant D954N 2860G>A STAD-US 12 6701626 6701626 single base substitution C T missense_variant D958N 2872G>A STAD-US 12 6701626 6701626 single base substitution C T missense_variant D961N 2881G>A STAD-US 12 6701626 6701626 single base substitution C T upstream_gene_variant STAD-US 12 6701672 6701672 deletion of <=200bp T - downstream_gene_variant STAD-US 12 6701672 6701672 deletion of <=200bp T - exon_variant STAD-US 12 6701672 6701672 deletion of <=200bp T - frameshift_variant K938 STAD-US 12 6701672 6701672 deletion of <=200bp T - frameshift_variant K942 STAD-US 12 6701672 6701672 deletion of <=200bp T - frameshift_variant K945 STAD-US 12 6701672 6701672 deletion of <=200bp T - upstream_gene_variant STAD-US 12 6701715 6701715 deletion of <=200bp A - downstream_gene_variant STAD-US 12 6701715 6701715 deletion of <=200bp A - exon_variant STAD-US 12 6701715 6701715 deletion of <=200bp A - frameshift_variant L924 STAD-US 12 6701715 6701715 deletion of <=200bp A - frameshift_variant L928 STAD-US 12 6701715 6701715 deletion of <=200bp A - frameshift_variant L931 STAD-US 12 6701715 6701715 deletion of <=200bp A - upstream_gene_variant STAD-US 12 6702658 6702658 single base substitution C T downstream_gene_variant STAD-US 12 6702658 6702658 single base substitution C T missense_variant R806H 2417G>A STAD-US 12 6702658 6702658 single base substitution C T missense_variant R810H 2429G>A STAD-US 12 6702658 6702658 single base substitution C T missense_variant R813H 2438G>A STAD-US 12 6702658 6702658 single base substitution C T upstream_gene_variant STAD-US 12 6703729 6703729 single base substitution A G downstream_gene_variant STAD-US 12 6703729 6703729 single base substitution A G synonymous_variant L730L 2188T>C STAD-US 12 6703729 6703729 single base substitution A G synonymous_variant L734L 2200T>C STAD-US 12 6703729 6703729 single base substitution A G synonymous_variant L737L 2209T>C STAD-US 12 6703729 6703729 single base substitution A G upstream_gene_variant STAD-US 12 6704507 6704507 single base substitution G A downstream_gene_variant STAD-US 12 6704507 6704507 single base substitution G A missense_variant T698I 2093C>T STAD-US 12 6704507 6704507 single base substitution G A missense_variant T702I 2105C>T STAD-US 12 6704507 6704507 single base substitution G A missense_variant T705I 2114C>T STAD-US 12 6704507 6704507 single base substitution G A upstream_gene_variant STAD-US 12 6705221 6705221 single base substitution C T downstream_gene_variant STAD-US 12 6705221 6705221 single base substitution C T exon_variant STAD-US 12 6705221 6705221 single base substitution C T missense_variant V652M 1954G>A STAD-US 12 6705221 6705221 single base substitution C T missense_variant V656M 1966G>A STAD-US 12 6705221 6705221 single base substitution C T missense_variant V659M 1975G>A STAD-US 12 6705221 6705221 single base substitution C T upstream_gene_variant STAD-US 12 6707121 6707121 single base substitution G A downstream_gene_variant STAD-US 12 6707121 6707121 single base substitution G A exon_variant STAD-US 12 6707121 6707121 single base substitution G A missense_variant R604C 1810C>T STAD-US 12 6707121 6707121 single base substitution G A missense_variant R608C 1822C>T STAD-US 12 6707121 6707121 single base substitution G A missense_variant R611C 1831C>T STAD-US 12 6707246 6707246 single base substitution A G downstream_gene_variant STAD-US 12 6707246 6707246 single base substitution A G missense_variant V562A 1685T>C STAD-US 12 6707246 6707246 single base substitution A G missense_variant V566A 1697T>C STAD-US 12 6707246 6707246 single base substitution A G missense_variant V569A 1706T>C STAD-US 12 6707246 6707246 single base substitution A G upstream_gene_variant STAD-US 12 6707515 6707515 single base substitution G T downstream_gene_variant STAD-US 12 6707515 6707515 single base substitution G T missense_variant P513H 1538C>A STAD-US 12 6707515 6707515 single base substitution G T missense_variant P517H 1550C>A STAD-US 12 6707515 6707515 single base substitution G T missense_variant P520H 1559C>A STAD-US 12 6707515 6707515 single base substitution G T upstream_gene_variant STAD-US 12 6708947 6708947 deletion of <=200bp G - downstream_gene_variant STAD-US 12 6708947 6708947 deletion of <=200bp G - frameshift_variant R485 STAD-US 12 6708947 6708947 deletion of <=200bp G - frameshift_variant R489 STAD-US 12 6708947 6708947 deletion of <=200bp G - frameshift_variant R492 STAD-US 12 6708947 6708947 deletion of <=200bp G - upstream_gene_variant STAD-US 12 6711240 6711240 single base substitution G A exon_variant STAD-US 12 6711240 6711240 single base substitution G A synonymous_variant S101S 303C>T STAD-US 12 6711240 6711240 single base substitution G A synonymous_variant S105S 315C>T STAD-US 12 6711240 6711240 single base substitution G A synonymous_variant S108S 324C>T STAD-US 12 6711240 6711240 single base substitution G A upstream_gene_variant STAD-US 12 6715477 6715477 single base substitution A G synonymous_variant D21D 63T>C STAD-US 12 6715477 6715477 single base substitution A G upstream_gene_variant THCA-SA 12 6707526 6707526 single base substitution G A downstream_gene_variant THCA-SA 12 6707526 6707526 single base substitution G A synonymous_variant P509P 1527C>T THCA-SA 12 6707526 6707526 single base substitution G A synonymous_variant P513P 1539C>T THCA-SA 12 6707526 6707526 single base substitution G A synonymous_variant P516P 1548C>T THCA-SA 12 6707526 6707526 single base substitution G A upstream_gene_variant THCA-SA 12 6709059 6709059 single base substitution G A downstream_gene_variant THCA-SA 12 6709059 6709059 single base substitution G A exon_variant THCA-SA 12 6709059 6709059 single base substitution G A synonymous_variant V447V 1341C>T THCA-SA 12 6709059 6709059 single base substitution G A synonymous_variant V451V 1353C>T THCA-SA 12 6709059 6709059 single base substitution G A synonymous_variant V454V 1362C>T THCA-SA 12 6709059 6709059 single base substitution G A upstream_gene_variant THCA-SA 12 6709145 6709145 single base substitution C T downstream_gene_variant THCA-SA 12 6709145 6709145 single base substitution C T exon_variant THCA-SA 12 6709145 6709145 single base substitution C T missense_variant D419N 1255G>A THCA-SA 12 6709145 6709145 single base substitution C T missense_variant D423N 1267G>A THCA-SA 12 6709145 6709145 single base substitution C T missense_variant D426N 1276G>A THCA-SA 12 6709145 6709145 single base substitution C T upstream_gene_variant THCA-SA 12 6715593 6715593 single base substitution A G 5_prime_UTR_variant THCA-SA 12 6715593 6715593 single base substitution A G upstream_gene_variant THCA-SA 12 6716532 6716532 single base substitution G T 5_prime_UTR_variant THCA-SA 12 6716532 6716532 single base substitution G T upstream_gene_variant THCA-US 12 6691343 6691343 single base substitution A C exon_variant THCA-US 12 6691343 6691343 single base substitution A C intron_variant THCA-US 12 6691343 6691343 single base substitution A C missense_variant V1485G 4454T>G THCA-US 12 6691343 6691343 single base substitution A C missense_variant V1492G 4475T>G THCA-US 12 6691343 6691343 single base substitution A C missense_variant V1517G 4550T>G THCA-US 12 6691343 6691343 single base substitution A C missense_variant V1520G 4559T>G THCA-US 12 6691343 6691343 single base substitution A C upstream_gene_variant UCEC-US 12 6677006 6677006 single base substitution C T downstream_gene_variant UCEC-US 12 6682356 6682356 single base substitution G T missense_variant P1807H 5420C>A UCEC-US 12 6682356 6682356 single base substitution G T missense_variant P1814H 5441C>A UCEC-US 12 6682356 6682356 single base substitution G T missense_variant P1839H 5516C>A UCEC-US 12 6682356 6682356 single base substitution G T missense_variant P1842H 5525C>A UCEC-US 12 6682356 6682356 single base substitution G T upstream_gene_variant UCEC-US 12 6682375 6682375 single base substitution A G missense_variant S1801P 5401T>C UCEC-US 12 6682375 6682375 single base substitution A G missense_variant S1808P 5422T>C UCEC-US 12 6682375 6682375 single base substitution A G missense_variant S1833P 5497T>C UCEC-US 12 6682375 6682375 single base substitution A G missense_variant S1836P 5506T>C UCEC-US 12 6682375 6682375 single base substitution A G upstream_gene_variant UCEC-US 12 6686952 6686952 single base substitution T C downstream_gene_variant UCEC-US 12 6686952 6686952 single base substitution T C missense_variant K1780R 5339A>G UCEC-US 12 6686952 6686952 single base substitution T C missense_variant K1787R 5360A>G UCEC-US 12 6686952 6686952 single base substitution T C missense_variant K1812R 5435A>G UCEC-US 12 6686952 6686952 single base substitution T C missense_variant K1815R 5444A>G UCEC-US 12 6690253 6690253 single base substitution C A downstream_gene_variant UCEC-US 12 6690253 6690253 single base substitution C A exon_variant UCEC-US 12 6690253 6690253 single base substitution C A missense_variant E1615D 4845G>T UCEC-US 12 6690253 6690253 single base substitution C A missense_variant E1622D 4866G>T UCEC-US 12 6690253 6690253 single base substitution C A missense_variant E1647D 4941G>T UCEC-US 12 6690253 6690253 single base substitution C A missense_variant E1650D 4950G>T UCEC-US 12 6691351 6691351 single base substitution G T exon_variant UCEC-US 12 6691351 6691351 single base substitution G T intron_variant UCEC-US 12 6691351 6691351 single base substitution G T synonymous_variant R1482R 4446C>A UCEC-US 12 6691351 6691351 single base substitution G T synonymous_variant R1489R 4467C>A UCEC-US 12 6691351 6691351 single base substitution G T synonymous_variant R1514R 4542C>A UCEC-US 12 6691351 6691351 single base substitution G T synonymous_variant R1517R 4551C>A UCEC-US 12 6691351 6691351 single base substitution G T upstream_gene_variant UCEC-US 12 6691814 6691814 single base substitution C T exon_variant UCEC-US 12 6691814 6691814 single base substitution C T intron_variant UCEC-US 12 6691814 6691814 single base substitution C T missense_variant R1439K 4316G>A UCEC-US 12 6691814 6691814 single base substitution C T missense_variant R1446K 4337G>A UCEC-US 12 6691814 6691814 single base substitution C T missense_variant R1471K 4412G>A UCEC-US 12 6691814 6691814 single base substitution C T missense_variant R1474K 4421G>A UCEC-US 12 6691814 6691814 single base substitution C T upstream_gene_variant UCEC-US 12 6691996 6691996 single base substitution G T intron_variant UCEC-US 12 6691996 6691996 single base substitution G T upstream_gene_variant UCEC-US 12 6692411 6692411 single base substitution C A exon_variant UCEC-US 12 6692411 6692411 single base substitution C A intron_variant UCEC-US 12 6692411 6692411 single base substitution C A missense_variant R1331I 3992G>T UCEC-US 12 6692411 6692411 single base substitution C A missense_variant R1335I 4004G>T UCEC-US 12 6692411 6692411 single base substitution C A missense_variant R1338I 4013G>T UCEC-US 12 6692411 6692411 single base substitution C A upstream_gene_variant UCEC-US 12 6692690 6692690 single base substitution G T intron_variant UCEC-US 12 6692690 6692690 single base substitution G T upstream_gene_variant UCEC-US 12 6696626 6696626 single base substitution G A downstream_gene_variant UCEC-US 12 6696626 6696626 single base substitution G A exon_variant UCEC-US 12 6696626 6696626 single base substitution G A intron_variant UCEC-US 12 6696626 6696626 single base substitution G A missense_variant T1261I 3782C>T UCEC-US 12 6696626 6696626 single base substitution G A missense_variant T1265I 3794C>T UCEC-US 12 6696626 6696626 single base substitution G A missense_variant T1268I 3803C>T UCEC-US 12 6696686 6696686 single base substitution T G downstream_gene_variant UCEC-US 12 6696686 6696686 single base substitution T G exon_variant UCEC-US 12 6696686 6696686 single base substitution T G intron_variant UCEC-US 12 6696686 6696686 single base substitution T G missense_variant H1241P 3722A>C UCEC-US 12 6696686 6696686 single base substitution T G missense_variant H1245P 3734A>C UCEC-US 12 6696686 6696686 single base substitution T G missense_variant H1248P 3743A>C UCEC-US 12 6696909 6696909 single base substitution C A downstream_gene_variant UCEC-US 12 6696909 6696909 single base substitution C A exon_variant UCEC-US 12 6696909 6696909 single base substitution C A intron_variant UCEC-US 12 6696909 6696909 single base substitution C A missense_variant E1217D 3651G>T UCEC-US 12 6696909 6696909 single base substitution C A missense_variant E1221D 3663G>T UCEC-US 12 6696909 6696909 single base substitution C A missense_variant E1224D 3672G>T UCEC-US 12 6696937 6696937 single base substitution A C downstream_gene_variant UCEC-US 12 6696937 6696937 single base substitution A C exon_variant UCEC-US 12 6696937 6696937 single base substitution A C intron_variant UCEC-US 12 6696937 6696937 single base substitution A C missense_variant L1208R 3623T>G UCEC-US 12 6696937 6696937 single base substitution A C missense_variant L1212R 3635T>G UCEC-US 12 6696937 6696937 single base substitution A C missense_variant L1215R 3644T>G UCEC-US 12 6697009 6697011 deletion of <=200bp TTC - disruptive_inframe_deletion KK1183K UCEC-US 12 6697009 6697011 deletion of <=200bp TTC - disruptive_inframe_deletion KK1187K UCEC-US 12 6697009 6697011 deletion of <=200bp TTC - disruptive_inframe_deletion KK1190K UCEC-US 12 6697009 6697011 deletion of <=200bp TTC - downstream_gene_variant UCEC-US 12 6697009 6697011 deletion of <=200bp TTC - intron_variant UCEC-US 12 6697009 6697011 deletion of <=200bp TTC - upstream_gene_variant UCEC-US 12 6697096 6697096 single base substitution C T downstream_gene_variant UCEC-US 12 6697096 6697096 single base substitution C T intron_variant UCEC-US 12 6697096 6697096 single base substitution C T missense_variant R1155Q 3464G>A UCEC-US 12 6697096 6697096 single base substitution C T missense_variant R1159Q 3476G>A UCEC-US 12 6697096 6697096 single base substitution C T missense_variant R1162Q 3485G>A UCEC-US 12 6697096 6697096 single base substitution C T upstream_gene_variant UCEC-US 12 6697097 6697097 single base substitution G A downstream_gene_variant UCEC-US 12 6697097 6697097 single base substitution G A intron_variant UCEC-US 12 6697097 6697097 single base substitution G A missense_variant R1155W 3463C>T UCEC-US 12 6697097 6697097 single base substitution G A missense_variant R1159W 3475C>T UCEC-US 12 6697097 6697097 single base substitution G A missense_variant R1162W 3484C>T UCEC-US 12 6697097 6697097 single base substitution G A upstream_gene_variant UCEC-US 12 6697106 6697106 single base substitution T C downstream_gene_variant UCEC-US 12 6697106 6697106 single base substitution T C intron_variant UCEC-US 12 6697106 6697106 single base substitution T C missense_variant R1152G 3454A>G UCEC-US 12 6697106 6697106 single base substitution T C missense_variant R1156G 3466A>G UCEC-US 12 6697106 6697106 single base substitution T C missense_variant R1159G 3475A>G UCEC-US 12 6697106 6697106 single base substitution T C upstream_gene_variant UCEC-US 12 6697522 6697522 single base substitution G T downstream_gene_variant UCEC-US 12 6697522 6697522 single base substitution G T intron_variant UCEC-US 12 6697522 6697522 single base substitution G T missense_variant A1129D 3386C>A UCEC-US 12 6697522 6697522 single base substitution G T missense_variant A1133D 3398C>A UCEC-US 12 6697522 6697522 single base substitution G T missense_variant A1136D 3407C>A UCEC-US 12 6697522 6697522 single base substitution G T upstream_gene_variant UCEC-US 12 6697540 6697540 single base substitution C T downstream_gene_variant UCEC-US 12 6697540 6697540 single base substitution C T intron_variant UCEC-US 12 6697540 6697540 single base substitution C T missense_variant G1123D 3368G>A UCEC-US 12 6697540 6697540 single base substitution C T missense_variant G1127D 3380G>A UCEC-US 12 6697540 6697540 single base substitution C T missense_variant G1130D 3389G>A UCEC-US 12 6697540 6697540 single base substitution C T upstream_gene_variant UCEC-US 12 6700679 6700679 single base substitution C T downstream_gene_variant UCEC-US 12 6700679 6700679 single base substitution C T exon_variant UCEC-US 12 6700679 6700679 single base substitution C T intron_variant UCEC-US 12 6700679 6700679 single base substitution C T missense_variant G1091D 3272G>A UCEC-US 12 6700679 6700679 single base substitution C T missense_variant G1095D 3284G>A UCEC-US 12 6700679 6700679 single base substitution C T missense_variant G1098D 3293G>A UCEC-US 12 6700679 6700679 single base substitution C T upstream_gene_variant UCEC-US 12 6701219 6701219 single base substitution A G downstream_gene_variant UCEC-US 12 6701219 6701219 single base substitution A G exon_variant UCEC-US 12 6701219 6701219 single base substitution A G missense_variant Y978H 2932T>C UCEC-US 12 6701219 6701219 single base substitution A G missense_variant Y982H 2944T>C UCEC-US 12 6701219 6701219 single base substitution A G missense_variant Y985H 2953T>C UCEC-US 12 6701219 6701219 single base substitution A G upstream_gene_variant UCEC-US 12 6701583 6701583 single base substitution C T downstream_gene_variant UCEC-US 12 6701583 6701583 single base substitution C T exon_variant UCEC-US 12 6701583 6701583 single base substitution C T missense_variant R968H 2903G>A UCEC-US 12 6701583 6701583 single base substitution C T missense_variant R972H 2915G>A UCEC-US 12 6701583 6701583 single base substitution C T missense_variant R975H 2924G>A UCEC-US 12 6701583 6701583 single base substitution C T upstream_gene_variant UCEC-US 12 6701600 6701600 single base substitution C G downstream_gene_variant UCEC-US 12 6701600 6701600 single base substitution C G exon_variant UCEC-US 12 6701600 6701600 single base substitution C G missense_variant K962N 2886G>C UCEC-US 12 6701600 6701600 single base substitution C G missense_variant K966N 2898G>C UCEC-US 12 6701600 6701600 single base substitution C G missense_variant K969N 2907G>C UCEC-US 12 6701600 6701600 single base substitution C G upstream_gene_variant UCEC-US 12 6701638 6701638 single base substitution G A downstream_gene_variant UCEC-US 12 6701638 6701638 single base substitution G A exon_variant UCEC-US 12 6701638 6701638 single base substitution G A missense_variant R950W 2848C>T UCEC-US 12 6701638 6701638 single base substitution G A missense_variant R954W 2860C>T UCEC-US 12 6701638 6701638 single base substitution G A missense_variant R957W 2869C>T UCEC-US 12 6701638 6701638 single base substitution G A upstream_gene_variant UCEC-US 12 6701926 6701926 single base substitution G T downstream_gene_variant UCEC-US 12 6701926 6701926 single base substitution G T missense_variant P897T 2689C>A UCEC-US 12 6701926 6701926 single base substitution G T missense_variant P901T 2701C>A UCEC-US 12 6701926 6701926 single base substitution G T missense_variant P904T 2710C>A UCEC-US 12 6701926 6701926 single base substitution G T upstream_gene_variant UCEC-US 12 6701981 6701981 single base substitution G T downstream_gene_variant UCEC-US 12 6701981 6701981 single base substitution G T missense_variant F878L 2634C>A UCEC-US 12 6701981 6701981 single base substitution G T missense_variant F882L 2646C>A UCEC-US 12 6701981 6701981 single base substitution G T missense_variant F885L 2655C>A UCEC-US 12 6701981 6701981 single base substitution G T upstream_gene_variant UCEC-US 12 6702279 6702279 single base substitution C T downstream_gene_variant UCEC-US 12 6702279 6702279 single base substitution C T missense_variant R870Q 2609G>A UCEC-US 12 6702279 6702279 single base substitution C T missense_variant R874Q 2621G>A UCEC-US 12 6702279 6702279 single base substitution C T missense_variant R877Q 2630G>A UCEC-US 12 6702279 6702279 single base substitution C T upstream_gene_variant UCEC-US 12 6702291 6702291 single base substitution T C downstream_gene_variant UCEC-US 12 6702291 6702291 single base substitution T C missense_variant D866G 2597A>G UCEC-US 12 6702291 6702291 single base substitution T C missense_variant D870G 2609A>G UCEC-US 12 6702291 6702291 single base substitution T C missense_variant D873G 2618A>G UCEC-US 12 6702291 6702291 single base substitution T C upstream_gene_variant UCEC-US 12 6702659 6702659 single base substitution G A downstream_gene_variant UCEC-US 12 6702659 6702659 single base substitution G A missense_variant R806C 2416C>T UCEC-US 12 6702659 6702659 single base substitution G A missense_variant R810C 2428C>T UCEC-US 12 6702659 6702659 single base substitution G A missense_variant R813C 2437C>T UCEC-US 12 6702659 6702659 single base substitution G A upstream_gene_variant UCEC-US 12 6702721 6702721 single base substitution C T downstream_gene_variant UCEC-US 12 6702721 6702721 single base substitution C T missense_variant R785Q 2354G>A UCEC-US 12 6702721 6702721 single base substitution C T missense_variant R789Q 2366G>A UCEC-US 12 6702721 6702721 single base substitution C T missense_variant R792Q 2375G>A UCEC-US 12 6702721 6702721 single base substitution C T upstream_gene_variant UCEC-US 12 6703726 6703726 single base substitution G A downstream_gene_variant UCEC-US 12 6703726 6703726 single base substitution G A missense_variant R731C 2191C>T UCEC-US 12 6703726 6703726 single base substitution G A missense_variant R735C 2203C>T UCEC-US 12 6703726 6703726 single base substitution G A missense_variant R738C 2212C>T UCEC-US 12 6703726 6703726 single base substitution G A upstream_gene_variant UCEC-US 12 6703798 6703798 single base substitution G A downstream_gene_variant UCEC-US 12 6703798 6703798 single base substitution G A stop_gained R707* 2119C>T UCEC-US 12 6703798 6703798 single base substitution G A stop_gained R711* 2131C>T UCEC-US 12 6703798 6703798 single base substitution G A stop_gained R714* 2140C>T UCEC-US 12 6703798 6703798 single base substitution G A upstream_gene_variant UCEC-US 12 6709723 6709723 single base substitution C T downstream_gene_variant UCEC-US 12 6709723 6709723 single base substitution C T exon_variant UCEC-US 12 6709723 6709723 single base substitution C T missense_variant R340Q 1019G>A UCEC-US 12 6709723 6709723 single base substitution C T missense_variant R344Q 1031G>A UCEC-US 12 6709723 6709723 single base substitution C T missense_variant R347Q 1040G>A UCEC-US 12 6709723 6709723 single base substitution C T upstream_gene_variant UCEC-US 12 6709724 6709724 single base substitution G A downstream_gene_variant UCEC-US 12 6709724 6709724 single base substitution G A exon_variant UCEC-US 12 6709724 6709724 single base substitution G A stop_gained R340* 1018C>T UCEC-US 12 6709724 6709724 single base substitution G A stop_gained R344* 1030C>T UCEC-US 12 6709724 6709724 single base substitution G A stop_gained R347* 1039C>T UCEC-US 12 6709724 6709724 single base substitution G A upstream_gene_variant UCEC-US 12 6710104 6710104 single base substitution A G downstream_gene_variant UCEC-US 12 6710104 6710104 single base substitution A G exon_variant UCEC-US 12 6710104 6710104 single base substitution A G synonymous_variant R298R 894T>C UCEC-US 12 6710104 6710104 single base substitution A G synonymous_variant R302R 906T>C UCEC-US 12 6710104 6710104 single base substitution A G synonymous_variant R305R 915T>C UCEC-US 12 6710104 6710104 single base substitution A G upstream_gene_variant UCEC-US 12 6710106 6710106 single base substitution G A downstream_gene_variant UCEC-US 12 6710106 6710106 single base substitution G A exon_variant UCEC-US 12 6710106 6710106 single base substitution G A missense_variant R298C 892C>T UCEC-US 12 6710106 6710106 single base substitution G A missense_variant R302C 904C>T UCEC-US 12 6710106 6710106 single base substitution G A missense_variant R305C 913C>T UCEC-US 12 6710106 6710106 single base substitution G A upstream_gene_variant UCEC-US 12 6710189 6710189 single base substitution C T downstream_gene_variant UCEC-US 12 6710189 6710189 single base substitution C T exon_variant UCEC-US 12 6710189 6710189 single base substitution C T missense_variant S270N 809G>A UCEC-US 12 6710189 6710189 single base substitution C T missense_variant S274N 821G>A UCEC-US 12 6710189 6710189 single base substitution C T missense_variant S277N 830G>A UCEC-US 12 6710189 6710189 single base substitution C T upstream_gene_variant UCEC-US 12 6710471 6710471 single base substitution C A downstream_gene_variant UCEC-US 12 6710471 6710471 single base substitution C A missense_variant K254N 762G>T UCEC-US 12 6710471 6710471 single base substitution C A missense_variant K258N 774G>T UCEC-US 12 6710471 6710471 single base substitution C A missense_variant K261N 783G>T UCEC-US 12 6710471 6710471 single base substitution C A upstream_gene_variant UCEC-US 12 6711141 6711141 single base substitution A C downstream_gene_variant UCEC-US 12 6711141 6711141 single base substitution A C exon_variant UCEC-US 12 6711141 6711141 single base substitution A C missense_variant D134E 402T>G UCEC-US 12 6711141 6711141 single base substitution A C missense_variant D138E 414T>G UCEC-US 12 6711141 6711141 single base substitution A C missense_variant D141E 423T>G UCEC-US 12 6711141 6711141 single base substitution A C upstream_gene_variant UCEC-US 12 6711239 6711239 single base substitution C T exon_variant UCEC-US 12 6711239 6711239 single base substitution C T missense_variant D102N 304G>A UCEC-US 12 6711239 6711239 single base substitution C T missense_variant D106N 316G>A UCEC-US 12 6711239 6711239 single base substitution C T missense_variant D109N 325G>A UCEC-US 12 6711239 6711239 single base substitution C T upstream_gene_variant UCEC-US 12 6711582 6711582 single base substitution C T exon_variant UCEC-US 12 6711582 6711582 single base substitution C T missense_variant R58Q 173G>A UCEC-US 12 6711582 6711582 single base substitution C T missense_variant R61Q 182G>A UCEC-US 12 6711582 6711582 single base substitution C T upstream_gene_variant UCEC-US 12 6711613 6711613 single base substitution G T exon_variant UCEC-US 12 6711613 6711613 single base substitution G T missense_variant L48I 142C>A UCEC-US 12 6711613 6711613 single base substitution G T missense_variant L51I 151C>A UCEC-US 12 6711613 6711613 single base substitution G T upstream_gene_variant UCEC-US 12 6711664 6711664 single base substitution C A intron_variant UCEC-US 12 6711664 6711664 single base substitution C A splice_acceptor_variant UCEC-US 12 6711664 6711664 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C5-A1BI-01 COSM4841575 c.543C>T p.F181F Substitution - coding silent 12:6601662-6601662 - TCGA-IR-A3LA-01 COSM4844707 c.5016G>A p.V1672V Substitution - coding silent 12:6578512-6578512 - MN-1041 COSM1578825 c.2867G>A p.R956Q Substitution - Missense 12:6592474-6592474 - B109 COSM1756797 c.5437C>T p.H1813Y Substitution - Missense 12:6573194-6573194 - TCGA-AD-5900-01 COSM1363744 c.4214C>T p.A1405V Substitution - Missense 12:6582870-6582870 - TCGA-A8-A0A6-01 COSM3812837 c.3195T>G p.G1065G Substitution - coding silent 12:6591721-6591721 - TCGA-BS-A0T9-01 COSM4868173 c.2437C>T p.R813C Substitution - Missense 12:6593493-6593493 - TCGA-CG-5721-01 COSM4044355 c.1706T>C p.V569A Substitution - Missense 12:6598080-6598080 - SNU-C2B COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - TCGA-BR-8487-01 COSM4044346 c.2114C>T p.T705I Substitution - Missense 12:6595341-6595341 - 61 COSM5739558 c.4177C>T p.R1393W Substitution - Missense 12:6582907-6582907 - PD23565a COSM5790765 c.2694G>T p.L898L Substitution - coding silent 12:6592776-6592776 - TCGA-AC-A23H-01 COSM3812826 c.3967G>C p.E1323Q Substitution - Missense 12:6583291-6583291 - PD17981a COSM5767885 c.3796G>A p.E1266K Substitution - Missense 12:6587467-6587467 - Pat_06_B COSM5841746 c.2197G>A p.G733S Substitution - Missense 12:6594575-6594575 - TCGA-BR-8680-01 COSM1586697 c.4013G>T p.R1338I Substitution - Missense 12:6583245-6583245 - TCGA-CG-4442-01 COSM4044320 c.4005A>C p.K1335N Substitution - Missense 12:6583253-6583253 - YUFOLD COSM1704967 c.4091C>T p.S1364F Substitution - Missense 12:6583083-6583083 - RK062_C01 COSM1628795 c.1702C>T p.Q568* Substitution - Nonsense 12:6598084-6598084 - PD4595a COSM4809774 c.5580G>C p.L1860L Substitution - coding silent 12:6571010-6571010 - HCC30 COSM1606534 c.687G>T p.A229A Substitution - coding silent 12:6601401-6601401 - sysucc-880T COSM5462261 c.4787A>G p.Q1596R Substitution - Missense 12:6581166-6581166 - WSU-HN13 COSM4147408 c.1006A>C p.T336P Substitution - Missense 12:6600591-6600591 - TCGA-AP-A059-01 COSM1586679 c.151C>A p.L51I Substitution - Missense 12:6602447-6602447 - RMS10_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-B5-A11E-01 COSM1586680 c.325G>A p.D109N Substitution - Missense 12:6602073-6602073 - T2269 COSM4671989 c.5334G>T p.K1778N Substitution - Missense 12:6577812-6577812 - TCGA-BK-A0CB-01 COSM4865651 c.3407C>A p.A1136D Substitution - Missense 12:6588356-6588356 - Patient_4_Diagnosis COSM2098512 c.2870G>A p.R957Q Substitution - Missense 12:6592471-6592471 - TCGA-B5-A11Z-01 COSM1476836 c.2710C>A p.P904T Substitution - Missense 12:6592760-6592760 - SJHGG099_D COSM4971731 c.4148-11_4148-9delTCT p.? Unknown 12:6582945-6582947 - CHC258T COSM5349459 c.2768G>A p.R923K Substitution - Missense 12:6592702-6592702 - SJHYPER227_D COSM1476837 c.2630G>A p.R877Q Substitution - Missense 12:6593113-6593113 - TCGA-DB-A64L-01 COSM3968400 c.2761C>T p.P921S Substitution - Missense 12:6592709-6592709 - TCGA-IR-A3LA-01 COSM4845630 c.5025G>A p.Q1675Q Substitution - coding silent 12:6578503-6578503 - TCGA-EJ-7123-01 COSM3671167 c.3148G>T p.G1050W Substitution - Missense 12:6591768-6591768 - TCGA-D1-A176-01 COSM2098705 c.182G>A p.R61Q Substitution - Missense 12:6602416-6602416 - P142 COSM1736983 c.1031A>G p.K344R Substitution - Missense 12:6600566-6600566 - RMS112_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-E9-A1NI-01 COSM1476847 c.355_357delAAG p.K119delK Deletion - In frame 12:6602041-6602043 - sysucc-1370T COSM4210588 c.400G>A p.E134K Substitution - Missense 12:6601998-6601998 - 07-058 COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-AQ-A1H3-01 COSM1476837 c.2630G>A p.R877Q Substitution - Missense 12:6593113-6593113 - B109-Tumor COSM1756794 c.5516C>G p.S1839* Substitution - Nonsense 12:6573115-6573115 - TCGA-EE-A2MD-06 COSM3464417 c.92C>T p.P31L Substitution - Missense 12:6606282-6606282 - TCGA-EL-A3H1-01 COSM3368923 c.4475T>G p.V1492G Substitution - Missense 12:6582177-6582177 - TCGA-FD-A3NA-01 COSM1299804 c.1902G>C p.K634N Substitution - Missense 12:6596128-6596128 - T3090 COSM4671992 c.4673C>T p.P1558L Substitution - Missense 12:6581657-6581657 - TCGA-BR-8081-01 COSM4044343 c.2209T>C p.L737L Substitution - coding silent 12:6594563-6594563 - I2L-P11-Tumor-Biopsy COSM5361414 c.1857C>T p.P619P Substitution - coding silent 12:6597929-6597929 - TCGA-ER-A199-06 COSM3464380 c.2552C>T p.S851F Substitution - Missense 12:6593191-6593191 - PD13312a COSM5802028 c.4353_4370del18 p.S1452_K1457delSEKEFK Deletion - In frame 12:6582615-6582632 - TCGA-B0-5077-01 COSM1645717 c.2911G>C p.E971Q Substitution - Missense 12:6592430-6592430 - TCGA-AO-A12E-01 COSM1476836 c.2710C>A p.P904T Substitution - Missense 12:6592760-6592760 - TCGA-DA-A1IC-06 COSM3464389 c.2322C>T p.S774S Substitution - coding silent 12:6593608-6593608 - TCGA-C5-A7UH-01 COSM4856817 c.1948G>A p.D650N Substitution - Missense 12:6596082-6596082 - TCGA-BG-A2AE-01 COSM1586693 c.3570_3572delGAA p.K1191delK Deletion - In frame 12:6587843-6587845 - YUKLAB COSM1704973 c.848C>T p.A283V Substitution - Missense 12:6601005-6601005 - TCGA-DA-A1I7-06 COSM1704961 c.4622C>T p.P1541L Substitution - Missense 12:6581708-6581708 - TCGA-13-1412-01 COSM4946986 c.2989C>T p.L997F Substitution - Missense 12:6592017-6592017 - ESCC_74 COSM5634686 c.3748G>A p.D1250N Substitution - Missense 12:6587515-6587515 - TCGA-BS-A0UA-01 COSM1476831 c.3484C>T p.R1162W Substitution - Missense 12:6587931-6587931 - WT049 COSM1476838 c.2629C>T p.R877W Substitution - Missense 12:6593114-6593114 - TCGA-B5-A11E-01 COSM1586700 c.5422T>C p.S1808P Substitution - Missense 12:6573209-6573209 - TCGA-AP-A059-01 COSM1586699 c.4866G>T p.E1622D Substitution - Missense 12:6581087-6581087 - TCGA-EE-A3JD-06 COSM4396436 c.4593C>T p.S1531S Substitution - coding silent 12:6581737-6581737 - CCK81 COSM2098602 c.1545T>C p.S515S Substitution - coding silent 12:6598363-6598363 - TCGA-B6-A0I9-01 COSM4814491 c.3717A>G p.K1239K Substitution - coding silent 12:6587546-6587546 - T3094 COSM4672035 c.630G>A p.R210R Substitution - coding silent 12:6601458-6601458 - TCGA-EK-A2RC-01 COSM4848441 c.1797G>C p.K599N Substitution - Missense 12:6597989-6597989 - Pat_66_A COSM5841743 c.2633T>G p.L878R Substitution - Missense 12:6593110-6593110 - TCGA-BG-A0MG-01 COSM1317975 c.2924G>A p.R975H Substitution - Missense 12:6592417-6592417 - YUFOLD COSM1704964 c.4262G>A p.R1421Q Substitution - Missense 12:6582723-6582723 - B89-16-Tumor COSM1756803 c.3305G>A p.G1102E Substitution - Missense 12:6591501-6591501 - DN11190 COSM5789075 c.3840C>G p.F1280L Substitution - Missense 12:6587423-6587423 - TCGA-B7-5816-01 COSM4044314 c.4104G>T p.V1368V Substitution - coding silent 12:6583070-6583070 - HCC83T COSM3704371 c.1687-5C>G p.? Unknown 12:6598104-6598104 - pfg017T COSM1639220 c.3380G>A p.R1127Q Substitution - Missense 12:6588383-6588383 - TCGA-JW-A5VL-01 COSM4846723 c.1393G>A p.D465N Substitution - Missense 12:6599862-6599862 - T1182 COSM4672016 c.2004G>A p.K668K Substitution - coding silent 12:6596026-6596026 - TCGA-BR-4361-01 COSM4044323 c.3787G>A p.D1263N Substitution - Missense 12:6587476-6587476 - RK308_C01 COSM3739846 c.3280G>A p.E1094K Substitution - Missense 12:6591526-6591526 - SC_9016 COSM4210572 c.3313C>T p.R1105W Substitution - Missense 12:6591493-6591493 - 9227_T COSM5039081 c.1646G>T p.G549V Substitution - Missense 12:6598262-6598262 - PT52 COSM2098599 c.1579C>T p.P527S Substitution - Missense 12:6598329-6598329 - PTC-54C COSM4147408 c.1006A>C p.T336P Substitution - Missense 12:6600591-6600591 - D7 COSM5007664 c.2966T>C p.I989T Substitution - Missense 12:6592040-6592040 - LIM1899 COSM4639911 c.1293G>A p.E431E Substitution - coding silent 12:6599962-6599962 - 2497773 COSM5750412 c.3386G>A p.G1129E Substitution - Missense 12:6588377-6588377 - pfg008T COSM1639214 c.5217C>T p.A1739A Substitution - coding silent 12:6578040-6578040 - YUPROST COSM1704970 c.2170G>T p.G724* Substitution - Nonsense 12:6594602-6594602 - TCGA-BP-5001-01 COSM1645716 c.2873T>A p.L958H Substitution - Missense 12:6592468-6592468 - YUGATOR COSM5375813 c.5199T>C p.H1733H Substitution - coding silent 12:6578058-6578058 - SJHGG003_A COSM4968813 c.3599G>A p.R1200Q Substitution - Missense 12:6587816-6587816 - TCGA-A5-A0R8-01 COSM4870928 c.2869C>T p.R957W Substitution - Missense 12:6592472-6592472 - TCGA-HU-A4GT-01 COSM4044337 c.3079G>A p.V1027M Substitution - Missense 12:6591927-6591927 - BICR_22 COSM4147408 c.1006A>C p.T336P Substitution - Missense 12:6600591-6600591 - 25 COSM1317975 c.2924G>A p.R975H Substitution - Missense 12:6592417-6592417 - TCGA-BP-4989-01 COSM1645720 c.4952A>C p.D1651A Substitution - Missense 12:6578875-6578875 - 18472 COSM5613599 c.3581T>A p.L1194Q Substitution - Missense 12:6587834-6587834 - TCGA-D3-A1Q7-06 COSM2098562 c.1917C>T p.H639H Substitution - coding silent 12:6596113-6596113 - PDA_074 COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - OSCC-GB_00330111 COSM3710972 c.2395C>G p.P799A Substitution - Missense 12:6593535-6593535 - C106 COSM4610823 c.1097_1098insTGA p.Y365_E366insD Insertion - In frame 12:6600361-6600362 - CHC2362T COSM4957033 c.1421A>G p.H474R Substitution - Missense 12:6599834-6599834 - TCGA-C8-A1HM-01 COSM3812810 c.5599G>A p.D1867N Substitution - Missense 12:6570991-6570991 - S0087 COSM1128489 c.3778C>T p.R1260C Substitution - Missense 12:6587485-6587485 - TCGA-BS-A0UA-01 COSM1586685 c.915T>C p.R305R Substitution - coding silent 12:6600938-6600938 - LIM2405 COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - KM12 COSM1676668 c.3250G>A p.D1084N Substitution - Missense 12:6591556-6591556 - Sample_1 COSM2098581 c.1687-9C>T p.? Unknown 12:6598108-6598108 - TCGA-EE-A2A2-06 COSM3464371 c.3288C>T p.I1096I Substitution - coding silent 12:6591518-6591518 - TCGA-EJ-7123-01 COSM3671172 c.1857C>A p.P619P Substitution - coding silent 12:6597929-6597929 - TCGA-BR-6453-01 COSM4044340 c.2438G>A p.R813H Substitution - Missense 12:6593492-6593492 - QC2-32-T2 COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-EE-A2M5-06 COSM3464392 c.2165C>T p.T722I Substitution - Missense 12:6594607-6594607 - TCGA-B6-A0IJ-01 COSM4813979 c.946G>C p.D316H Substitution - Missense 12:6600651-6600651 - Padua002 COSM5095167 c.2713T>G p.L905V Substitution - Missense 12:6592757-6592757 - S02139 COSM5674118 c.1142A>T p.E381V Substitution - Missense 12:6600317-6600317 - T3479 COSM4671998 c.3395G>A p.G1132E Substitution - Missense 12:6588368-6588368 - TCGA-BR-4184-01 COSM4044361 c.324C>T p.S108S Substitution - coding silent 12:6602074-6602074 - TCGA-HU-A4G8-01 COSM4044294 c.4946C>T p.A1649V Substitution - Missense 12:6578881-6578881 - PT08_2 COSM5893638 c.4150C>T p.P1384S Substitution - Missense 12:6582934-6582934 - TCGA-G9-6356-01 COSM1128489 c.3778C>T p.R1260C Substitution - Missense 12:6587485-6587485 - TCGA-D1-A0ZS-01 COSM1317975 c.2924G>A p.R975H Substitution - Missense 12:6592417-6592417 - RMS109_ COSM4986789 c.4657A>C p.T1553P Substitution - Missense 12:6581673-6581673 - TCGA-B0-4824-01 COSM3359899 c.4217G>A p.R1406H Substitution - Missense 12:6582867-6582867 - TCGA-B5-A0JY-01 COSM1586690 c.2655C>A p.F885L Substitution - Missense 12:6592815-6592815 - HCC33 COSM1606531 c.2288T>G p.V763G Substitution - Missense 12:6594484-6594484 - TCGA-DK-A2I1-01 COSM1299792 c.4111G>C p.E1371Q Substitution - Missense 12:6583063-6583063 - TCGA-K4-A3WS-01 COSM3792914 c.2309A>G p.K770R Substitution - Missense 12:6594463-6594463 - TCGA-DK-A2I1-01 COSM1299798 c.3895G>C p.E1299Q Substitution - Missense 12:6583363-6583363 - TCGA-AP-A05D-01 COSM1317975 c.2924G>A p.R975H Substitution - Missense 12:6592417-6592417 - TCGA-A2-A4S2-01 COSM3812849 c.800G>T p.G267V Substitution - Missense 12:6601053-6601053 - HCC39T COSM1606521 c.5084G>A p.R1695H Substitution - Missense 12:6578444-6578444 - RMS105_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - HCC58 COSM1606525 c.4375T>C p.Y1459H Substitution - Missense 12:6582277-6582277 - TCGA-D8-A1JN-01 COSM1476853 c.100+1G>A p.? Unknown 12:6606273-6606273 - TCGA-RC-A7S9-01 COSM4940251 c.3020C>T p.S1007F Substitution - Missense 12:6591986-6591986 - ESCC_BICR_042T COSM5443636 c.1141G>C p.E381Q Substitution - Missense 12:6600318-6600318 - TCGA-AA-3713-01 COSM1363773 c.699G>A p.A233A Substitution - coding silent 12:6601389-6601389 - ACINAR01 COSM1735161 c.3955C>T p.R1319W Substitution - Missense 12:6583303-6583303 - TCGA-BS-A0UV-01 COSM1586691 c.2953T>C p.Y985H Substitution - Missense 12:6592053-6592053 - TCGA-DD-A1EK-01 COSM4934358 c.3920A>G p.E1307G Substitution - Missense 12:6583338-6583338 - TCGA-EE-A2MR-06 COSM3464355 c.4190A>T p.D1397V Substitution - Missense 12:6582894-6582894 - CSB1 COSM5027526 c.3447C>A p.N1149K Substitution - Missense 12:6588316-6588316 - TCGA-A6-5665-01 COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - SCMC_RM2_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-AX-A0J1-01 COSM1586701 c.5441C>A p.P1814H Substitution - Missense 12:6573190-6573190 - ESCC_92 COSM2098491 c.3202C>T p.R1068C Substitution - Missense 12:6591714-6591714 - pfg127T COSM4765564 c.2836_2837insA p.L946fs*3 Insertion - Frameshift 12:6592504-6592505 - TCGA-CG-4465-01 COSM4044329 c.3530G>A p.R1177H Substitution - Missense 12:6587885-6587885 - SNUH_G15_S1 COSM3998921 c.4626A>C p.T1542T Substitution - coding silent 12:6581704-6581704 - TCGA-D1-A0ZP-01 COSM4874494 c.3743A>C p.H1248P Substitution - Missense 12:6587520-6587520 - SC_9081 COSM5554774 c.5031A>G p.G1677G Substitution - coding silent 12:6578497-6578497 - TCGA-D3-A1QA-06 COSM3464411 c.1420C>T p.H474Y Substitution - Missense 12:6599835-6599835 - TCGA-BP-4976-01 COSM1645718 c.4669G>A p.V1557I Substitution - Missense 12:6581661-6581661 - TCGA-AB-2878-03 COSM1317977 c.3517C>T p.R1173W Substitution - Missense 12:6587898-6587898 - TCGA-BR-A4CQ-01 COSM4044291 c.5194C>T p.R1732W Substitution - Missense 12:6578063-6578063 - TCGA-E9-A1NG-01 COSM1476831 c.3484C>T p.R1162W Substitution - Missense 12:6587931-6587931 - BD57T COSM5510569 c.1407_1409delTTC p.S470delS Deletion - In frame 12:6599846-6599848 - T2269 COSM4672001 c.3217T>C p.S1073P Substitution - Missense 12:6591699-6591699 - MO_1232 COSM5552860 c.4428G>C p.E1476D Substitution - Missense 12:6582224-6582224 - TCGA-D1-A16G-01 COSM4871687 c.3485G>A p.R1162Q Substitution - Missense 12:6587930-6587930 - TCGA-EO-A1Y5-01 COSM1317975 c.2924G>A p.R975H Substitution - Missense 12:6592417-6592417 - PCSI_0090_Pa_X COSM5419918 c.3030T>C p.N1010N Substitution - coding silent 12:6591976-6591976 - TCGA-D9-A6EC-06 COSM4404140 c.2644C>T p.Q882* Substitution - Nonsense 12:6593099-6593099 - CSCC-7-T COSM4473871 c.187C>T p.P63S Substitution - Missense 12:6602411-6602411 - T207 COSM4672013 c.2359A>G p.I787V Substitution - Missense 12:6593571-6593571 - HCC83 COSM3704371 c.1687-5C>G p.? Unknown 12:6598104-6598104 - Au4 COSM5603173 c.2762C>T p.P921L Substitution - Missense 12:6592708-6592708 - PTC-6C COSM3998921 c.4626A>C p.T1542T Substitution - coding silent 12:6581704-6581704 - HCC134T COSM2098605 c.1542A>G p.P514P Substitution - coding silent 12:6598366-6598366 - PT46 COSM2098599 c.1579C>T p.P527S Substitution - Missense 12:6598329-6598329 - Pat_37_B COSM1476838 c.2629C>T p.R877W Substitution - Missense 12:6593114-6593114 - TCGA-HU-A4H8-01 COSM4044305 c.4288C>T p.R1430* Substitution - Nonsense 12:6582697-6582697 - TCGA-DZ-6135-01 COSM3987165 c.203G>C p.S68T Substitution - Missense 12:6602395-6602395 - 77 COSM5015072 c.845A>G p.D282G Substitution - Missense 12:6601008-6601008 - sysucc-1370T COSM2098411 c.4002C>T p.G1334G Substitution - coding silent 12:6583256-6583256 - HCC33T COSM1606531 c.2288T>G p.V763G Substitution - Missense 12:6594484-6594484 - 1115157 COSM2098545 c.2343C>T p.S781S Substitution - coding silent 12:6593587-6593587 - PT36 COSM5916190 c.4660C>T p.P1554S Substitution - Missense 12:6581670-6581670 - TCGA-A2-A0CR-01 COSM3812840 c.3048G>C p.K1016N Substitution - Missense 12:6591958-6591958 - TCGA-BR-7707-01 COSM4044352 c.1831C>T p.R611C Substitution - Missense 12:6597955-6597955 - RMS110_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-A7-A5ZX-01 COSM1476838 c.2629C>T p.R877W Substitution - Missense 12:6593114-6593114 - TCGA-ER-A193-06 COSM3464337 c.5447T>C p.M1816T Substitution - Missense 12:6573184-6573184 - TCGA-FI-A2D2-01 COSM4870921 c.2375G>A p.R792Q Substitution - Missense 12:6593555-6593555 - PT48 COSM5933006 c.4236+6T>A p.? Unknown 12:6582842-6582842 - T3064 COSM4672029 c.863C>A p.P288H Substitution - Missense 12:6600990-6600990 - KM12 COSM1676668 c.3250G>A p.D1084N Substitution - Missense 12:6591556-6591556 - HCC163T COSM2098605 c.1542A>G p.P514P Substitution - coding silent 12:6598366-6598366 - 1115244 COSM5563255 c.3978A>G p.Q1326Q Substitution - coding silent 12:6583280-6583280 - TCGA-BR-7716-01 COSM4044297 c.4747G>T p.V1583F Substitution - Missense 12:6581323-6581323 - TCGA-B5-A11N-01 COSM1586694 c.3644T>G p.L1215R Substitution - Missense 12:6587771-6587771 - TCGA-A8-A07R-01 COSM1476840 c.1863G>A p.W621* Substitution - Nonsense 12:6597923-6597923 - TCGA-BS-A0UV-01 COSM1586688 c.2212C>T p.R738C Substitution - Missense 12:6594560-6594560 - PTC-28C COSM4147405 c.1548C>T p.P516P Substitution - coding silent 12:6598360-6598360 - PT08_1 COSM5893638 c.4150C>T p.P1384S Substitution - Missense 12:6582934-6582934 - PD11349a COSM5802615 c.1512_1513insAGA p.K504_I505insR Insertion - In frame 12:6598395-6598396 - TCGA-C8-A27B-01 COSM1476850 c.269C>A p.P90Q Substitution - Missense 12:6602129-6602129 - PCSI_0083_Pa_P_526 COSM3781053 c.3331C>T p.R1111C Substitution - Missense 12:6591475-6591475 - TCGA-Q1-A73O-01 COSM4834465 c.5259G>A p.Q1753Q Substitution - coding silent 12:6577887-6577887 - RMS80_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - 2290929 COSM4440328 c.3727G>T p.D1243Y Substitution - Missense 12:6587536-6587536 - 2250170 COSM5029893 c.1401T>C p.C467C Substitution - coding silent 12:6599854-6599854 - CHC2362T COSM4957033 c.1421A>G p.H474R Substitution - Missense 12:6599834-6599834 - TCGA-EA-A556-01 COSM4828622 c.2978A>C p.N993T Substitution - Missense 12:6592028-6592028 - 8051719 COSM4136211 c.293A>T p.E98V Substitution - Missense 12:6602105-6602105 - TCGA-EE-A2GI-06 COSM2098491 c.3202C>T p.R1068C Substitution - Missense 12:6591714-6591714 - YUKAT COSM5375819 c.1432_1433CC>TT p.P478F Substitution - Missense 12:6599822-6599823 - sysucc-882T COSM5447052 c.2514+2T>C p.? Unknown 12:6593414-6593414 - TCGA-F1-6874-01 COSM4044282 c.5354G>T p.R1785M Substitution - Missense 12:6577792-6577792 - TCGA-G2-A2EJ-01 COSM1299786 c.4621C>G p.P1541A Substitution - Missense 12:6581709-6581709 - TCGA-AX-A06L-01 COSM1476837 c.2630G>A p.R877Q Substitution - Missense 12:6593113-6593113 - OSCC-GB_00940111 COSM4891544 c.249G>A p.G83G Substitution - coding silent 12:6602149-6602149 - TC71 COSM4575677 c.1992C>T p.Y664Y Substitution - coding silent 12:6596038-6596038 - QC2-34-T2 COSM5002406 c.414G>T p.E138D Substitution - Missense 12:6601984-6601984 - TCGA-63-5131-01 COSM1646546 c.2197G>T p.G733C Substitution - Missense 12:6594575-6594575 - TCGA-ER-A19D-06 COSM3464405 c.1676C>T p.S559F Substitution - Missense 12:6598232-6598232 - TCGA-EE-A2MT-06 COSM3464368 c.3516C>T p.Y1172Y Substitution - coding silent 12:6587899-6587899 - TCGA-AP-A05H-01 COSM1476831 c.3484C>T p.R1162W Substitution - Missense 12:6587931-6587931 - SNUH_G15_S1 COSM3676520 c.526A>C p.T176P Substitution - Missense 12:6601679-6601679 - EGC15 COSM5051886 c.1786C>T p.R596* Substitution - Nonsense 12:6598000-6598000 - TCGA-D3-A1Q6-06 COSM3464395 c.1984C>T p.Q662* Substitution - Nonsense 12:6596046-6596046 - I2L-P8-Tumor-Biopsy COSM5362004 c.857C>T p.P286L Substitution - Missense 12:6600996-6600996 - TCGA-AP-A0L8-01 COSM4863345 c.3389G>A p.G1130D Substitution - Missense 12:6588374-6588374 - PD8642a COSM3720386 c.4001G>A p.G1334D Substitution - Missense 12:6583257-6583257 - SNUH_G10_S1 COSM3998921 c.4626A>C p.T1542T Substitution - coding silent 12:6581704-6581704 - TCGA-EA-A4BA-01 COSM4848107 c.1063+1G>A p.? Unknown 12:6600533-6600533 - PD11366a COSM5792822 c.3338A>G p.N1113S Substitution - Missense 12:6591468-6591468 - BRC32 COSM1476831 c.3484C>T p.R1162W Substitution - Missense 12:6587931-6587931 - TCGA-CA-6717-01 COSM1363761 c.1715G>A p.R572Q Substitution - Missense 12:6598071-6598071 - 8066551 COSM1363771 c.1039C>T p.R347* Substitution - Nonsense 12:6600558-6600558 - TCGA-AP-A05A-01 COSM4874266 c.2907G>C p.K969N Substitution - Missense 12:6592434-6592434 - TCGA-A8-A0A6-01 COSM3812823 c.4224T>G p.G1408G Substitution - coding silent 12:6582860-6582860 - TCGA-BR-6452-01 COSM4044311 c.4127A>G p.D1376G Substitution - Missense 12:6583047-6583047 - T3099 COSM4672023 c.1315G>A p.G439R Substitution - Missense 12:6599940-6599940 - TCGA-EE-A2MR-06 COSM3464386 c.2481C>T p.A827A Substitution - coding silent 12:6593449-6593449 - TCGA-CF-A1HR-01 COSM4812768 c.5630G>A p.R1877Q Substitution - Missense 12:6570960-6570960 - TCGA-D1-A16E-01 COSM4875131 c.4337G>A p.R1446K Substitution - Missense 12:6582648-6582648 - YUGOE COSM1704979 c.517C>T p.R173* Substitution - Nonsense 12:6601688-6601688 - 24 COSM4777937 c.2627A>G p.H876R Substitution - Missense 12:6593116-6593116 - TCGA-C8-A27B-01 COSM1476843 c.703G>C p.A235P Substitution - Missense 12:6601385-6601385 - TCGA-CG-5720-01 COSM1363750 c.3334T>C p.F1112L Substitution - Missense 12:6591472-6591472 - ESO-085 COSM1248206 c.5402G>A p.R1801Q Substitution - Missense 12:6573229-6573229 - TCGA-CG-4442-01 COSM4044358 c.1559C>A p.P520H Substitution - Missense 12:6598349-6598349 - ESCC_54 COSM5631435 c.3702A>T p.G1234G Substitution - coding silent 12:6587713-6587713 - TCGA-09-1674-01 COSM1323106 c.846T>C p.D282D Substitution - coding silent 12:6601007-6601007 - SNUH_G10_S1 COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-BH-A0E1-01 COSM1476838 c.2629C>T p.R877W Substitution - Missense 12:6593114-6593114 - Pat_24_B COSM5841749 c.1877G>A p.R626Q Substitution - Missense 12:6597909-6597909 - 31231321 COSM1582157 c.4698A>G p.I1566M Substitution - Missense 12:6581372-6581372 - TCGA-B8-4153-01 COSM1645714 c.512A>C p.D171A Substitution - Missense 12:6601693-6601693 - TCGA-AN-A046-01 COSM3812846 c.1714C>T p.R572* Substitution - Nonsense 12:6598072-6598072 - TCGA-EE-A29L-06 COSM3464414 c.494A>T p.H165L Substitution - Missense 12:6601711-6601711 - TCGA-FC-7961-01 COSM3671170 c.2273C>T p.T758I Substitution - Missense 12:6594499-6594499 - 44_T COSM3955074 c.1911C>A p.H637Q Substitution - Missense 12:6596119-6596119 - CT-TC COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-BR-8370-01 COSM4044317 c.4018C>T p.R1340C Substitution - Missense 12:6583240-6583240 - pfg127T COSM4746574 c.1483-3_1483-2delCA p.? Unknown 12:6598427-6598428 - SW403 COSM4210558 c.4026G>T p.Q1342H Substitution - Missense 12:6583232-6583232 - 2492729 COSM5725917 c.3801C>T p.D1267D Substitution - coding silent 12:6587462-6587462 - CSCC-5-T COSM4566828 c.4833_4834CC>TT p.P1612S Substitution - Missense 12:6581119-6581120 - TCGA-A6-6782-01 COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - PT42 COSM5925662 c.4780-8C>T p.? Unknown 12:6581181-6581181 - PT48 COSM5933003 c.2098C>T p.P700S Substitution - Missense 12:6595357-6595357 - GCT27 COSM5749506 c.2795A>G p.E932G Substitution - Missense 12:6592546-6592546 - TCGA-FS-A1Z3-06 COSM1363771 c.1039C>T p.R347* Substitution - Nonsense 12:6600558-6600558 - HCC30T COSM1606534 c.687G>T p.A229A Substitution - coding silent 12:6601401-6601401 - RMS88_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-EE-A3J7-06 COSM3872285 c.4890T>C p.P1630P Substitution - coding silent 12:6581063-6581063 - LIM2405 COSM4641766 c.1792C>T p.R598* Substitution - Nonsense 12:6597994-6597994 - RKO COSM2098718 c.56A>G p.D19G Substitution - Missense 12:6606318-6606318 - TCGA-AX-A0J0-01 COSM1586681 c.423T>G p.D141E Substitution - Missense 12:6601975-6601975 - SJHGG034_D COSM4970312 c.1947C>T p.Y649Y Substitution - coding silent 12:6596083-6596083 - TCGA-GV-A3QH-01 COSM1299807 c.1618G>A p.E540K Substitution - Missense 12:6598290-6598290 - TCGA-C5-A2LX-01 COSM4827363 c.4885G>A p.E1629K Substitution - Missense 12:6581068-6581068 - HCT116 COSM1476831 c.3484C>T p.R1162W Substitution - Missense 12:6587931-6587931 - TCGA-FS-A1Z7-06 COSM3464352 c.4479T>C p.L1493L Substitution - coding silent 12:6582173-6582173 - CSCC-6-T COSM4495808 c.4613C>T p.P1538L Substitution - Missense 12:6581717-6581717 - SNUH_G16_S1 COSM3676523 c.13C>T p.L5L Substitution - coding silent 12:6606361-6606361 - TCGA-A6-6781-01 COSM1363771 c.1039C>T p.R347* Substitution - Nonsense 12:6600558-6600558 - TCGA-G4-6320-01 COSM3688407 c.3448C>T p.P1150S Substitution - Missense 12:6588315-6588315 - TCGA-FG-6688-01 COSM3968403 c.2366A>G p.N789S Substitution - Missense 12:6593564-6593564 - PT37 COSM5920387 c.4426G>T p.E1476* Substitution - Nonsense 12:6582226-6582226 - pfg008T COSM1639217 c.5190T>C p.H1730H Substitution - coding silent 12:6578067-6578067 - TCGA-61-1741-01 COSM1317975 c.2924G>A p.R975H Substitution - Missense 12:6592417-6592417 - YUROC COSM5375822 c.265G>A p.G89R Substitution - Missense 12:6602133-6602133 - SH-0622 COSM5019001 c.417_419delGGA p.E139delE Deletion - In frame 12:6601979-6601981 - B109 COSM1756794 c.5516C>G p.S1839* Substitution - Nonsense 12:6573115-6573115 - TCGA-BR-8360-01 COSM4044288 c.5195G>T p.R1732L Substitution - Missense 12:6578062-6578062 - BD124T COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - SNUH_G17_S1 COSM3676523 c.13C>T p.L5L Substitution - coding silent 12:6606361-6606361 - CSCC-41-T COSM4489479 c.3481C>T p.H1161Y Substitution - Missense 12:6587934-6587934 - TCGA-39-5019-01 COSM1646548 c.3319G>C p.E1107Q Substitution - Missense 12:6591487-6591487 - C658 COSM2098451 c.3533C>T p.A1178V Substitution - Missense 12:6587882-6587882 - TCGA-ER-A19A-06 COSM3464408 c.1487C>T p.P496L Substitution - Missense 12:6598421-6598421 - PTC_448 COSM5959253 c.1276G>A p.D426N Substitution - Missense 12:6599979-6599979 - UPCI:SCC090 COSM2098426 c.3886_3895del10 p.E1296fs*31 Deletion - Frameshift 12:6583363-6583372 - TCGA-A2-A0T5-01 COSM3812815 c.4665A>C p.A1555A Substitution - coding silent 12:6581665-6581665 - TCGA-BG-A0MI-01 COSM4874420 c.3293G>A p.G1098D Substitution - Missense 12:6591513-6591513 - TCGA-D1-A17Q-01 COSM1586686 c.1040G>A p.R347Q Substitution - Missense 12:6600557-6600557 - sysucc-1484T COSM5459758 c.2219C>G p.S740C Substitution - Missense 12:6594553-6594553 - CSCC-16-T COSM4500531 c.5682C>T p.S1894S Substitution - coding silent 12:6570908-6570908 - TCGA-AZ-6601-01 COSM1363736 c.4409C>T p.P1470L Substitution - Missense 12:6582243-6582243 - 35M COSM3464386 c.2481C>T p.A827A Substitution - coding silent 12:6593449-6593449 - T3090 COSM4672010 c.2410G>A p.V804I Substitution - Missense 12:6593520-6593520 - RMS66_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-AP-A059-01 COSM1586695 c.3672G>T p.E1224D Substitution - Missense 12:6587743-6587743 - SJHYPO044 COSM4775757 c.3338A>T p.N1113I Substitution - Missense 12:6591468-6591468 - B109-Tumor COSM1756797 c.5437C>T p.H1813Y Substitution - Missense 12:6573194-6573194 - GC1_T COSM4782323 c.1168C>T p.R390C Substitution - Missense 12:6600291-6600291 - TCGA-A8-A0A6-01 COSM3812834 c.3560T>G p.V1187G Substitution - Missense 12:6587855-6587855 - TCGA-B0-5098-01 COSM1493050 c.529A>G p.N177D Substitution - Missense 12:6601676-6601676 - TCGA-G4-6309-01 COSM1363769 c.1412A>G p.Y471C Substitution - Missense 12:6599843-6599843 - HCC58T COSM1606525 c.4375T>C p.Y1459H Substitution - Missense 12:6582277-6582277 - 66 COSM4672019 c.1622G>A p.R541Q Substitution - Missense 12:6598286-6598286 - TBR08 COSM4167627 c.3421G>C p.V1141L Substitution - Missense 12:6588342-6588342 - T578 COSM4671995 c.3992G>A p.R1331Q Substitution - Missense 12:6583266-6583266 - TCGA-EE-A181-06 COSM3464377 c.2879C>T p.A960V Substitution - Missense 12:6592462-6592462 - TCGA-AP-A059-01 COSM1586682 c.783G>T p.K261N Substitution - Missense 12:6601305-6601305 - ESO-175 COSM1248212 c.5339A>C p.K1780T Substitution - Missense 12:6577807-6577807 - CRC-13T COSM5479300 c.604A>G p.M202V Substitution - Missense 12:6601484-6601484 - 61 COSM5739561 c.2405A>G p.Y802C Substitution - Missense 12:6593525-6593525 - 28 COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-C5-A1BQ-01 COSM4842473 c.3880-9C>T p.? Unknown 12:6583387-6583387 - PD7199a COSM5781836 c.3879+2T>A p.? Unknown 12:6587382-6587382 - Pat_41_B COSM5841752 c.1441C>T p.P481S Substitution - Missense 12:6599814-6599814 - TCGA-IR-A3LK-01 COSM4817315 c.4061-1G>C p.? Unknown 12:6583114-6583114 - PT26 COSM5905282 c.3880-4C>T p.? Unknown 12:6583382-6583382 - TCGA-BR-8372-01 COSM2098715 c.63T>C p.D21D Substitution - coding silent 12:6606311-6606311 - HCC163 COSM2098605 c.1542A>G p.P514P Substitution - coding silent 12:6598366-6598366 - TCGA-AB-2949-03 COSM1317975 c.2924G>A p.R975H Substitution - Missense 12:6592417-6592417 - Pat_22_B COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - ZZUFHECRKL-G026T COSM1639220 c.3380G>A p.R1127Q Substitution - Missense 12:6588383-6588383 - PTC-14C COSM4147402 c.4018C>A p.R1340S Substitution - Missense 12:6583240-6583240 - S02299 COSM5690133 c.5716C>T p.Q1906* Substitution - Nonsense 12:6570874-6570874 - ESCC_153 COSM4147408 c.1006A>C p.T336P Substitution - Missense 12:6600591-6600591 - SC_9047 COSM5556232 c.3063T>C p.H1021H Substitution - coding silent 12:6591943-6591943 - SNU-C4 COSM2098394 c.4139G>A p.R1380H Substitution - Missense 12:6583035-6583035 - T3064 COSM4672019 c.1622G>A p.R541Q Substitution - Missense 12:6598286-6598286 - ccRCC-41 COSM1661122 c.1448T>A p.I483N Substitution - Missense 12:6599807-6599807 - TCGA-BR-4257-01 COSM4044285 c.5272T>C p.Y1758H Substitution - Missense 12:6577874-6577874 - SNU-175 COSM2098345 c.4600G>A p.G1534R Substitution - Missense 12:6581730-6581730 - RMS85_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - T2959 COSM4672007 c.2507G>A p.R836H Substitution - Missense 12:6593423-6593423 - ESCC_55 COSM5631718 c.5179G>A p.E1727K Substitution - Missense 12:6578078-6578078 - TCGA-EI-6917-01 COSM3417077 c.1621C>T p.R541W Substitution - Missense 12:6598287-6598287 - TCGA-CU-A3YL-01 COSM3792911 c.3223-1G>A p.? Unknown 12:6591584-6591584 - TCGA-EK-A2PG-01 COSM4819395 c.2256G>C p.E752D Substitution - Missense 12:6594516-6594516 - TCGA-BG-A0VV-01 COSM1476831 c.3484C>T p.R1162W Substitution - Missense 12:6587931-6587931 - TCGA-BC-A10U-01 COSM4942478 c.689C>T p.A230V Substitution - Missense 12:6601399-6601399 - PT41 COSM5924571 c.4450C>T p.R1484* Substitution - Nonsense 12:6582202-6582202 - TCGA-AP-A0LN-01 COSM4866909 c.5360A>G p.K1787R Substitution - Missense 12:6577786-6577786 - LIM2405 COSM4641769 c.690A>G p.A230A Substitution - coding silent 12:6601398-6601398 - EGC3 COSM4044352 c.1831C>T p.R611C Substitution - Missense 12:6597955-6597955 - PT35 COSM5913353 c.3529C>T p.R1177C Substitution - Missense 12:6587886-6587886 - TCGA-EE-A2GO-06 COSM3464398 c.1926C>T p.I642I Substitution - coding silent 12:6596104-6596104 - CR007 COSM3781053 c.3331C>T p.R1111C Substitution - Missense 12:6591475-6591475 - TCGA-GM-A2D9-01 COSM3812829 c.3941G>A p.W1314* Substitution - Nonsense 12:6583317-6583317 - TCGA-18-3417-01 COSM1646545 c.1821G>A p.E607E Substitution - coding silent 12:6597965-6597965 - SCC-25 COSM4147408 c.1006A>C p.T336P Substitution - Missense 12:6600591-6600591 - RMS109_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - Pat_01_A COSM1476847 c.355_357delAAG p.K119delK Deletion - In frame 12:6602041-6602043 - BD57T COSM5510566 c.4166G>A p.R1389H Substitution - Missense 12:6582918-6582918 - 44 COSM5734168 c.2374C>T p.R792W Substitution - Missense 12:6593556-6593556 - TCGA-HU-A4H8-01 COSM2098262 c.5398C>T p.R1800C Substitution - Missense 12:6573233-6573233 - PD9067a COSM5202849 c.4007G>A p.G1336E Substitution - Missense 12:6583251-6583251 - TCGA-BS-A0UV-01 COSM1586678 c.101-1G>T p.? Unknown 12:6602498-6602498 - TCGA-BK-A13C-01 COSM1586692 c.3475A>G p.R1159G Substitution - Missense 12:6587940-6587940 - PD13619a COSM5783608 c.2257A>G p.M753V Substitution - Missense 12:6594515-6594515 - SC_9008 COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - TCGA-B0-5121-01 COSM1645719 c.4703A>C p.E1568A Substitution - Missense 12:6581367-6581367 - CPCG0352-F1 COSM4966847 c.2744T>G p.L915R Substitution - Missense 12:6592726-6592726 - TCGA-G4-6320-01 COSM2098515 c.2835_2836insA p.L946fs*3 Insertion - Frameshift 12:6592505-6592506 - tumor_4133511 COSM3356346 c.3733A>C p.S1245R Substitution - Missense 12:6587530-6587530 - TCGA-18-3414-01 COSM1646549 c.3659A>G p.K1220R Substitution - Missense 12:6587756-6587756 - CHEWS019 COSM4575674 c.4533T>C p.H1511H Substitution - coding silent 12:6581797-6581797 - 1N65-VS-1T65 COSM3676523 c.13C>T p.L5L Substitution - coding silent 12:6606361-6606361 - 0046_CRUK_PC_0046_T1_DNA COSM1639220 c.3380G>A p.R1127Q Substitution - Missense 12:6588383-6588383 - 169 COSM3729048 c.4780-10delT p.? Unknown 12:6581183-6581183 - 31 COSM5733230 c.1156G>A p.D386N Substitution - Missense 12:6600303-6600303 - TCGA-D7-A4YV-01 COSM4044349 c.1975G>A p.V659M Substitution - Missense 12:6596055-6596055 - TCGA-B5-A11E-01 COSM1586684 c.913C>T p.R305C Substitution - Missense 12:6600940-6600940 - BD72T COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - YUDEDE COSM1704976 c.772C>T p.R258C Substitution - Missense 12:6601316-6601316 - TCGA-BR-A4J4-01 COSM1586697 c.4013G>T p.R1338I Substitution - Missense 12:6583245-6583245 - TCGA-D1-A103-01 COSM1586697 c.4013G>T p.R1338I Substitution - Missense 12:6583245-6583245 - sysucc-274T COSM5002406 c.414G>T p.E138D Substitution - Missense 12:6601984-6601984 - L06 COSM5368754 c.3479C>A p.A1160D Substitution - Missense 12:6587936-6587936 - T2417 COSM2098385 c.4178G>A p.R1393Q Substitution - Missense 12:6582906-6582906 - PD24307a COSM2098506 c.2924G>T p.R975L Substitution - Missense 12:6592417-6592417 - AOCS-166-1-2 COSM4044331 c.3314G>A p.R1105Q Substitution - Missense 12:6591492-6591492 - TCGA-BR-4361-01 COSM4044334 c.3126C>T p.G1042G Substitution - coding silent 12:6591790-6591790 - TCGA-BR-6452-01 COSM4044326 c.3777C>T p.D1259D Substitution - coding silent 12:6587486-6587486 - pfg127T COSM4749355 c.5234G>T p.G1745V Substitution - Missense 12:6577912-6577912 - LP6007427-DNA_A01 COSM5035308 c.931G>T p.E311* Substitution - Nonsense 12:6600666-6600666 - SCC-9 COSM4147408 c.1006A>C p.T336P Substitution - Missense 12:6600591-6600591 - T2621 COSM4672004 c.2923C>T p.R975C Substitution - Missense 12:6592418-6592418 - Pat_41_B COSM5841755 c.580C>T p.P194S Substitution - Missense 12:6601508-6601508 - TCGA-BT-A20J-01 COSM2098674 c.564C>A p.L188L Substitution - coding silent 12:6601524-6601524 - TCGA-A8-A07O-01 COSM1476839 c.2574C>T p.D858D Substitution - coding silent 12:6593169-6593169 - I2L-P11-Tumor-Organoid COSM5361414 c.1857C>T p.P619P Substitution - coding silent 12:6597929-6597929 - SM-4AX83 COSM5953216 c.2974C>G p.R992G Substitution - Missense 12:6592032-6592032 - 2 COSM5044394 c.1438C>T p.L480F Substitution - Missense 12:6599817-6599817 - TCGA-G9-6356-01 COSM1128492 c.5361+1G>A p.? Unknown 12:6577784-6577784 - 8035755 COSM3384572 c.2881G>A p.D961N Substitution - Missense 12:6592460-6592460 - 66 COSM5743540 c.496G>A p.V166M Substitution - Missense 12:6601709-6601709 - Pat_41_B COSM5841758 c.439G>A p.E147K Substitution - Missense 12:6601766-6601766 - pfg181T COSM4749360 c.1840C>T p.R614C Substitution - Missense 12:6597946-6597946 - 66 COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - TCGA-AP-A051-01 COSM1586696 c.3803C>T p.T1268I Substitution - Missense 12:6587460-6587460 - TCGA-G2-A2EJ-01 COSM1299795 c.3997C>G p.L1333V Substitution - Missense 12:6583261-6583261 - YUNIBO COSM5375816 c.3261A>G p.E1087E Substitution - coding silent 12:6591545-6591545 - TCGA-CF-A1HR-01 COSM2098293 c.5326G>C p.E1776Q Substitution - Missense 12:6577820-6577820 - CSCC-29-T COSM4445640 c.2653-3C>T p.? Unknown 12:6592820-6592820 - BCM791T COSM5347387 c.1625_1627delAGT p.Q542_F543>L Complex - deletion inframe 12:6598281-6598283 - TCGA-FD-A3NA-01 COSM1299801 c.1923G>C p.L641F Substitution - Missense 12:6596107-6596107 - sysucc-882T COSM5447049 c.3071T>G p.L1024R Substitution - Missense 12:6591935-6591935 - BZ17 COSM5758406 c.2884G>T p.V962L Substitution - Missense 12:6592457-6592457 - Br27P COSM39948 c.1935G>A p.R645R Substitution - coding silent 12:6596095-6596095 - TCGA-CM-5861-01 COSM1363747 c.3822T>C p.N1274N Substitution - coding silent 12:6587441-6587441 - CSCC-56-T COSM4489251 c.3450C>T p.P1150P Substitution - coding silent 12:6588313-6588313 - TCGA-AP-A059-01 COSM1586698 c.4467C>A p.R1489R Substitution - coding silent 12:6582185-6582185 - OSCC-GB_00850111 COSM4891429 c.4975G>T p.D1659Y Substitution - Missense 12:6578852-6578852 - B80 COSM1756800 c.5435C>T p.S1812F Substitution - Missense 12:6573196-6573196 - T3503 COSM3739846 c.3280G>A p.E1094K Substitution - Missense 12:6591526-6591526 - HCC60T COSM1606528 c.3709_3725del17 p.D1237fs*2 Deletion - Frameshift 12:6587538-6587554 - TCGA-AP-A056-01 COSM1586697 c.4013G>T p.R1338I Substitution - Missense 12:6583245-6583245 - pfg076T COSM4746571 c.2719_2730del12 p.N907_E910delNNLE Deletion - In frame 12:6592740-6592751 - PT48 COSM5933009 c.4236+5G>A p.? Unknown 12:6582843-6582843 - ESCC_BICR_047T COSM5430312 c.2727G>A p.L909L Substitution - coding silent 12:6592743-6592743 - 33T COSM3710972 c.2395C>G p.P799A Substitution - Missense 12:6593535-6593535 - 1009 COSM5730360 c.2812G>A p.A938T Substitution - Missense 12:6592529-6592529 - HCT-116 COSM1476831 c.3484C>T p.R1162W Substitution - Missense 12:6587931-6587931 - EGC3 COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - ICGC_MB40 COSM1132974 c.340_358>16 p.K119delK Deletion - In frame 12:6602040-6602058 - RMS106_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - CRC-02T COSM5454158 c.4910-4C>A p.? Unknown 12:6578921-6578921 - C135 COSM4617412 c.3785A>C p.Q1262P Substitution - Missense 12:6587478-6587478 - tumor_4133263 COSM5947835 c.1872C>A p.I624I Substitution - coding silent 12:6597914-6597914 - TCGA-B1-5398-01 COSM3987162 c.1534C>T p.Q512* Substitution - Nonsense 12:6598374-6598374 - SMS-CTR COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-A2-A0YK-01 COSM3812843 c.2458G>A p.E820K Substitution - Missense 12:6593472-6593472 - TCGA-G2-A2EC-01 COSM1299789 c.4405G>C p.E1469Q Substitution - Missense 12:6582247-6582247 - TCGA-BT-A0YX-01 COSM4811662 c.4869G>C p.V1623V Substitution - coding silent 12:6581084-6581084 - TCGA-EK-A2PL-01 COSM4838274 c.4828G>A p.E1610K Substitution - Missense 12:6581125-6581125 - ICC009T COSM5823425 c.2046A>T p.E682D Substitution - Missense 12:6595409-6595409 - TCGA-F5-6814-01 COSM3417080 c.206A>C p.K69T Substitution - Missense 12:6602392-6602392 - RK177_C01 COSM1628792 c.3696T>A p.T1232T Substitution - coding silent 12:6587719-6587719 - RH30SJ_ COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-D8-A27V-01 COSM3812807 c.5604G>A p.V1868V Substitution - coding silent 12:6570986-6570986 - STC232 COSM5051889 c.288_290delGGA p.E98delE Deletion - In frame 12:6602108-6602110 - TCGA-CD-A4MJ-01 COSM4044331 c.3314G>A p.R1105Q Substitution - Missense 12:6591492-6591492 - TCGA-EE-A2GI-06 COSM1704967 c.4091C>T p.S1364F Substitution - Missense 12:6583083-6583083 - 2492729 COSM5725912 c.5460C>T p.T1820T Substitution - coding silent 12:6573171-6573171 - TCGA-BR-8360-01 COSM4044308 c.4216C>T p.R1406C Substitution - Missense 12:6582868-6582868 - TCGA-66-2777-01 COSM1646551 c.4615A>G p.K1539E Substitution - Missense 12:6581715-6581715 - T3509 COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - 418 COSM1742424 c.1618G>C p.E540Q Substitution - Missense 12:6598290-6598290 - ESCC-127T COSM3936108 c.5003A>G p.E1668G Substitution - Missense 12:6578525-6578525 - 19T COSM3710969 c.4058G>A p.R1353Q Substitution - Missense 12:6583200-6583200 - ICGC_MB56 COSM3764436 c.3598C>T p.R1200W Substitution - Missense 12:6587817-6587817 - TCGA-EE-A3AB-06 COSM3464383 c.2528T>C p.V843A Substitution - Missense 12:6593215-6593215 - HCC39 COSM1606521 c.5084G>A p.R1695H Substitution - Missense 12:6578444-6578444 - TCGA-CM-6170-01 COSM1363756 c.1971G>A p.E657E Substitution - coding silent 12:6596059-6596059 - TCGA-BS-A0TC-01 COSM1586689 c.2618A>G p.D873G Substitution - Missense 12:6593125-6593125 - TCGA-BR-6452-01 COSM4044269 c.5671A>G p.N1891D Substitution - Missense 12:6570919-6570919 - TCGA-EI-6917-01 COSM2098524 c.2691G>A p.K897K Substitution - coding silent 12:6592779-6592779 - TCGA-HU-A4GC-01 COSM4044300 c.4628C>T p.P1543L Substitution - Missense 12:6581702-6581702 - T3021 COSM4672021 c.1324G>A p.E442K Substitution - Missense 12:6599931-6599931 - tumor_4142267 COSM1578825 c.2867G>A p.R956Q Substitution - Missense 12:6592474-6592474 - MOLT-4 COSM1676671 c.2554T>C p.Y852H Substitution - Missense 12:6593189-6593189 - OSCC-GB_00190111 COSM3710969 c.4058G>A p.R1353Q Substitution - Missense 12:6583200-6583200 - I2L-P8-Tumor-Organoid COSM5362004 c.857C>T p.P286L Substitution - Missense 12:6600996-6600996 - TCGA-EE-A2MS-06 COSM3464374 c.3132C>T p.A1044A Substitution - coding silent 12:6591784-6591784 - HCT8 COSM4633721 c.2522C>T p.A841V Substitution - Missense 12:6593221-6593221 - TCGA-E2-A1B6-01 COSM1476829 c.4812T>C p.D1604D Substitution - coding silent 12:6581141-6581141 - B89-16 COSM1756803 c.3305G>A p.G1102E Substitution - Missense 12:6591501-6591501 - TCGA-FW-A3TU-06 COSM3872288 c.4109C>T p.S1370L Substitution - Missense 12:6583065-6583065 - TCGA-EE-A2GC-06 COSM3464358 c.4148-7C>T p.? Unknown 12:6582943-6582943 - TCGA-Q1-A73O-01 COSM4835417 c.145C>G p.P49A Substitution - Missense 12:6602453-6602453 - TCGA-BG-A0MQ-01 COSM1363771 c.1039C>T p.R347* Substitution - Nonsense 12:6600558-6600558 - TCGA-43-5668-01 COSM1646547 c.2280G>C p.Q760H Substitution - Missense 12:6594492-6594492 - TCGA-DD-A4NR-01 COSM4941199 c.4604C>T p.S1535L Substitution - Missense 12:6581726-6581726 - PD23559a COSM5784433 c.4466G>A p.R1489H Substitution - Missense 12:6582186-6582186 - BZ18 COSM5758456 c.4780-10_4780-9insT p.? Unknown 12:6581182-6581183 - T578 COSM4672032 c.811C>T p.R271W Substitution - Missense 12:6601042-6601042 - RD COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - PDA_079 COSM5002406 c.414G>T p.E138D Substitution - Missense 12:6601984-6601984 - TCGA-AZ-4315-01 COSM1363766 c.1429A>G p.N477D Substitution - Missense 12:6599826-6599826 - TCGA-A2-A04W-01 COSM1476828 c.4933G>T p.E1645* Substitution - Nonsense 12:6578894-6578894 - PD7307a COSM5789075 c.3840C>G p.F1280L Substitution - Missense 12:6587423-6587423 - PT36 COSM5916187 c.4661C>T p.P1554L Substitution - Missense 12:6581669-6581669 - T263 COSM2098515 c.2835_2836insA p.L946fs*3 Insertion - Frameshift 12:6592505-6592506 - YUPER COSM1704961 c.4622C>T p.P1541L Substitution - Missense 12:6581708-6581708 - TCGA-BR-4363-01 COSM3384572 c.2881G>A p.D961N Substitution - Missense 12:6592460-6592460 - MedB-1 COSM5620482 c.640A>G p.T214A Substitution - Missense 12:6601448-6601448 - TCGA-EB-A431-01 COSM2098491 c.3202C>T p.R1068C Substitution - Missense 12:6591714-6591714 - WT038-T2 COSM5352041 c.3656T>A p.L1219H Substitution - Missense 12:6587759-6587759 - TCGA-F4-6570-01 COSM1363739 c.4393C>T p.R1465W Substitution - Missense 12:6582259-6582259 - TCGA-DK-A2I4-01 COSM3792906 c.4160C>T p.P1387L Substitution - Missense 12:6582924-6582924 - TCGA-34-5928-01 COSM1646550 c.3775G>C p.D1259H Substitution - Missense 12:6587488-6587488 - ESO-117 COSM1248209 c.3119A>G p.Y1040C Substitution - Missense 12:6591797-6591797 - 49 COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - T578 COSM4672026 c.1143G>A p.E381E Substitution - coding silent 12:6600316-6600316 - 2176 COSM5015075 c.357G>C p.K119N Substitution - Missense 12:6602041-6602041 - TCGA-AM-5821-01 COSM3676523 c.13C>T p.L5L Substitution - coding silent 12:6606361-6606361 - Br27P COSM39949 c.4601G>A p.G1534E Substitution - Missense 12:6581729-6581729 - TCGA-06-0644-01 COSM2098376 c.4300C>T p.P1434S Substitution - Missense 12:6582685-6582685 - TCGA-BS-A0UV-01 COSM1586687 c.2140C>T p.R714* Substitution - Nonsense 12:6594632-6594632 - TCGA-CJ-4923-01 COSM1645715 c.2108C>T p.T703M Substitution - Missense 12:6595347-6595347 - V-PH-18T COSM4770446 c.763G>A p.V255M Substitution - Missense 12:6601325-6601325 - T3021 COSM1363779 c.218delA p.K73fs*129 Deletion - Frameshift 12:6602380-6602380 - ESCC_162 COSM5647807 c.4957A>G p.T1653A Substitution - Missense 12:6578870-6578870 - TCGA-BS-A0TC-01 COSM1586683 c.830G>A p.S277N Substitution - Missense 12:6601023-6601023 - TCGA-BH-A2L8-01 COSM3812820 c.4528G>C p.E1510Q Substitution - Missense 12:6581802-6581802 - RH18C COSM1363776 c.417G>T p.E139D Substitution - Missense 12:6601981-6601981 - TCGA-D8-A1JN-01 COSM1476834 c.2965A>T p.I989F Substitution - Missense 12:6592041-6592041 - CCK81 COSM2098497 c.3113G>A p.G1038D Substitution - Missense 12:6591803-6591803 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.162233 12p13 603277 2457256|CGAP|BC038596|C/T|coding|Val451Val|1514|Validated; 2457257|CGAP|BC038596|C/T|coding|Pro513Pro|1700|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V1492G c.4475T>G 12 6691343 THCA A G Missense p.F1112L c.3334T>C 12 6700638 STAD A G Missense p.M1816T c.5447T>C 12 6682350 CM A G Missense p.V843A c.2528T>C 12 6702381 CM A G Missense p.Y1758H c.5272T>C 12 6687040 STAD A G Synonymous p.D1604D c.4812T>C 12 6690307 BRCA A G Synonymous p.H1730H c.5190T>C 12 6687233 STAD A G Synonymous p.L1493L c.4479T>C 12 6691339 CM A G Synonymous p.P1630P c.4890T>C 12 6690229 CM A G Synonymous p.R305R c.915T>C 12 6710104 UCEC A T 5-UTRSNV . c.1-32T>A 12 6715571 CM A T Missense p.L958H c.2873T>A 12 6701634 RCCC C A Missense p.D602Y c.1804G>T 12 6707148 LUAD C A Missense p.E698D c.2094G>T 12 6704527 OV C A Missense p.G1042C c.3124G>T 12 6700958 OV C A Missense p.G1514W c.4540G>T 12 6690956 STAD C A Missense p.G733C c.2197G>T 12 6703741 LUSC C A Missense p.R1300L c.3899G>T 12 6692525 STAD C A Missense p.R1406L c.4217G>T 12 6692033 OV C A Missense p.R1785M c.5354G>T 12 6686958 STAD C A Missense p.R61L c.182G>T 12 6711582 CM C A Missense p.R792L c.2375G>T 12 6702721 CM C A Missense p.S1158I c.3473G>T 12 6697108 COREAD C A Missense p.V234L c.700G>T 12 6710554 OV C A Missense p.V241L c.721G>T 12 6710533 LUAD C A Missense p.W736L c.2207G>T 12 6703731 BRCA C A Nonsense p.E1645* c.4933G>T 12 6688060 BRCA C A Nonsense p.E1809* c.5425G>T 12 6682372 BRCA C A Synonymous p.G438G c.1314G>T 12 6709107 LUAD C A Synonymous p.G83G c.249G>T 12 6711315 SCLC C A Synonymous p.V1368V c.4104G>T 12 6692236 STAD C A Synonymous p.V780V c.2340G>T 12 6702756 CM C G Missense p.A235P c.703G>C 12 6710551 BRCA C G Missense p.D1259H c.3775G>C 12 6696654 LUSC C G Missense p.D316H c.946G>C 12 6709817 BRCA C G Missense p.D581H c.1741G>C 12 6707211 OV C G Missense p.E1107Q c.3319G>C 12 6700653 LUSC C G Missense p.E1299Q c.3895G>C 12 6692529 BLCA C G Missense p.E1371Q c.4111G>C 12 6692229 BLCA C G Missense p.E1469Q c.4405G>C 12 6691413 BLCA C G Missense p.E1776Q c.5326G>C 12 6686986 BLCA C G Missense p.E366Q c.1096G>C 12 6709529 LUAD C G Missense p.K634N c.1902G>C 12 6705294 BLCA C G Missense p.K969N c.2907G>C 12 6701600 UCEC C G Missense p.L641F c.1923G>C 12 6705273 BLCA C G Missense p.Q760H c.2280G>C 12 6703658 LUSC C G Missense p.V1141L c.3421G>C 12 6697508 ALL C G Missense p.V1187L c.3559G>C 12 6697022 LUAD C G SpliceAcceptorSNV . c.4682-1G>C 12 6690555 HNSC C G Synonymous p.L1860L c.5580G>C 12 6680176 BRCA C G Synonymous p.V1623V c.4869G>C 12 6690250 BLCA C T Missense p.A1458T c.4372G>A 12 6691446 HNSC C T Missense p.D162N c.484G>A 12 6710887 BRCA C T Missense p.D961N c.2881G>A 12 6701626 STAD C T Missense p.E1646K c.4936G>A 12 6688057 HNSC C T Missense p.E540K c.1618G>A 12 6707456 BLCA C T Missense p.G1098D c.3293G>A 12 6700679 UCEC C T Missense p.G1130D c.3389G>A 12 6697540 UCEC C T Missense p.G616E c.1847G>A 12 6707105 OV C T Missense p.R1127Q c.3380G>A 12 6697549 STAD C T Missense p.R1162Q c.3485G>A 12 6697096 UCEC C T Missense p.R1177H c.3530G>A 12 6697051 STAD C T Missense p.R1406H c.4217G>A 12 6692033 RCCC C T Missense p.R1446K c.4337G>A 12 6691814 UCEC C T Missense p.R1877Q c.5630G>A 12 6680126 BLCA C T Missense p.R61Q c.182G>A 12 6711582 UCEC C T Missense p.R792Q c.2375G>A 12 6702721 UCEC C T Missense p.R813H c.2438G>A 12 6702658 STAD C T Missense p.R817Q c.2450G>A 12 6702646 COREAD C T Missense p.R877Q c.2630G>A 12 6702279 BRCA C T Missense p.R877Q c.2630G>A 12 6702279 UCEC C T Missense p.R956Q c.2867G>A 12 6701640 DLBCL C T Missense p.R975H c.2924G>A 12 6701583 AML C T Missense p.R975H c.2924G>A 12 6701583 COREAD C T Missense p.R975H c.2924G>A 12 6701583 UCEC C T Missense p.S277N c.830G>A 12 6710189 UCEC C T Missense p.V1557I c.4669G>A 12 6690827 RCCC C T Nonsense p.W621* c.1863G>A 12 6707089 BRCA C T SpliceDonorSNV . c.100+1G>A 12 6715439 BRCA C T SpliceDonorSNV . c.5361+1G>A 12 6686950 PRAD C T Synonymous p.E607E c.1821G>A 12 6707131 LUSC C T Synonymous p.E933E c.2799G>A 12 6701708 CM CTT - InFrameDeletion p.K119delK c.355_357delAAG 12 6711207 BRCA CTT - InFrameDeletion p.K119delK c.355_357delAAG 12 6711222 MB GA AG Missense p.S1602L c.4804_4805delinsCT 12 6690314 LUAD G A IntronicSNV . c.3880-4C>T 12 6692548 CM G A IntronicSNV . c.4060+20C>T 12 6692344 ESCA G A Missense p.A1138V c.3413C>T 12 6697516 COREAD G A Missense p.A960V c.2879C>T 12 6701628 CM G A Missense p.G1534E c.4601G>A 12 6690895 GBM G A Missense p.H165Y c.493C>T 12 6710878 CM G A Missense p.H474Y c.1420C>T 12 6709001 CM G A Missense p.L755F c.2263C>T 12 6703675 CM G A Missense p.L997F c.2989C>T 12 6701183 OV G A Missense p.P1387L c.4160C>T 12 6692090 BLCA G A Missense p.P1434S c.4300C>T 12 6691851 GBM G A Missense p.P1533L c.4598C>T 12 6690898 HNSC G A Missense p.P1541L c.4622C>T 12 6690874 CM G A Missense p.P1680S c.5038C>T 12 6687656 CM G A Missense p.P251S c.751C>T 12 6710503 CM G A Missense p.P31L c.92C>T 12 6715448 CM G A Missense p.P496L c.1487C>T 12 6707587 CM G A Missense p.P534L c.1601C>T 12 6707473 CM G A Missense p.R1068C c.3202C>T 12 6700880 CM G A Missense p.R1095C c.3283C>T 12 6700689 COREAD G A Missense p.R1105W c.3313C>T 12 6700659 COREAD G A Missense p.R1162W c.3484C>T 12 6697097 BRCA G A Missense p.R1162W c.3484C>T 12 6697097 UCEC G A Missense p.R1173W c.3517C>T 12 6697064 AML G A Missense p.R1200W c.3598C>T 12 6696983 MB G A Missense p.R1260C c.3778C>T 12 6696651 PRAD G A Missense p.R813C c.2437C>T 12 6702659 UCEC G A Missense p.R877W c.2629C>T 12 6702280 BRCA G A Missense p.R957W c.2869C>T 12 6701638 UCEC G A Missense p.S1364F c.4091C>T 12 6692249 CM G A Missense p.S559F c.1676C>T 12 6707398 CM G A Missense p.S851F c.2552C>T 12 6702357 CM G A Missense p.T722I c.2165C>T 12 6703773 CM G A Missense p.T758I c.2273C>T 12 6703665 PRAD G A Nonsense p.Q662* c.1984C>T 12 6705212 CM G A Nonsense p.R347* c.1039C>T 12 6709724 CM G A Nonsense p.R347* c.1039C>T 12 6709724 UCEC G A Nonsense p.R684* c.2050C>T 12 6704571 COREAD G A Synonymous p.A1044A c.3132C>T 12 6700950 CM G A Synonymous p.A1739A c.5217C>T 12 6687206 STAD G A Synonymous p.D1357D c.4071C>T 12 6692269 COREAD G A Synonymous p.D858D c.2574C>T 12 6702335 BRCA G A Synonymous p.G1130G c.3390C>T 12 6697539 BRCA G A Synonymous p.H639H c.1917C>T 12 6705279 CM G A Synonymous p.I1096I c.3288C>T 12 6700684 CM G A Synonymous p.I433I c.1299C>T 12 6709122 CM G A Synonymous p.I642I c.1926C>T 12 6705270 CM G A Synonymous p.N1898N c.5694C>T 12 6680062 CM G A Synonymous p.R645R c.1935G>A 12 6705261 GBM G A Synonymous p.R836R c.2508C>T 12 6702588 CM G A Synonymous p.S1531S c.4593C>T 12 6690903 CM G A Synonymous p.S774S c.2322C>T 12 6702774 CM G A Synonymous p.Y1172Y c.3516C>T 12 6697065 CM G C Missense p.I296M c.888C>G 12 6710131 BRCA G C Missense p.I816M c.2448C>G 12 6702648 LUAD G C Missense p.L1333V c.3997C>G 12 6692427 BLCA G C Missense p.N1527K c.4581C>G 12 6690915 HNSC G C Missense p.P1541A c.4621C>G 12 6690875 BLCA G C Missense p.R645G c.1933C>G 12 6705263 OV G C Missense p.R836G c.2506C>G 12 6702590 CM G C Synonymous p.V1492V c.4476C>G 12 6691342 HNSC GG AA Missense p.P10S c.27_28delinsTT 12 6715512 CM GG AA Missense p.P1680L c.5039_5040delinsTT 12 6687654 CM GG AA Missense p.Q942* c.2823_2824delinsTT 12 6701683 CM GG AA Missense p.R341C c.1020_1021delinsTT 12 6709742 CM GG TA Missense p.P389L c.1166_1167delinsTA 12 6709458 HNSC G T Missense p.A1136D c.3407C>A 12 6697522 UCEC G T Missense p.N1149K c.3447C>A 12 6697482 BRCA G T Missense p.P648T c.1942C>A 12 6705254 CM G T Missense p.P904T c.2710C>A 12 6701926 BRCA G T Missense p.P904T c.2710C>A 12 6701926 UCEC G T Missense p.P90Q c.269C>A 12 6711295 BRCA G T Synonymous p.L188L c.564C>A 12 6710690 BLCA G T Synonymous p.S199S c.597C>A 12 6710657 CM T A Missense p.H165L c.494A>T 12 6710877 CM T A Missense p.I989F c.2965A>T 12 6701207 BRCA T A Missense p.N1113I c.3338A>T 12 6700634 ALL TCC - InFrameDeletion p.E139delE c.417_419delGGA 12 6711145 HNSC TCC - InFrameDeletion p.E139delE c.417_419delGGA 12 6711145 LGG TCC - InFrameDeletion p.E139delE c.417_419delGGA 12 6711145 PRAD TCC - InFrameDeletion p.E139delE c.417_419delGGA 12 6711145 RCCC T C Missense p.D873G c.2618A>G 12 6702291 UCEC T C Missense p.E106G c.317A>G 12 6711247 LUAD T C Missense p.K1220R c.3659A>G 12 6696922 LUSC T C Missense p.K1539E c.4615A>G 12 6690881 LUSC T C Missense p.K1787R c.5360A>G 12 6686952 UCEC T C Missense p.N789S c.2366A>G 12 6702730 LGG T C Missense p.R1159G c.3475A>G 12 6697106 UCEC T C Missense p.Y1040C c.3119A>G 12 6700963 ESCA T C Synonymous p.K1239K c.3717A>G 12 6696712 BRCA T - Frameshift p.K73Rfs*129 c.218delA 12 6711546 CM T - Frameshift p.K73Rfs*129 c.218delA 12 6711546 HNSC T G Missense p.D1651A c.4952A>C 12 6688041 RCCC T G Missense p.E1568A c.4703A>C 12 6690533 RCCC T G Missense p.H1248P c.3743A>C 12 6696686 UCEC T G Missense p.K1780T c.5339A>C 12 6686973 ESCA T G Missense p.Q542P c.1625A>C 12 6707449 LUAD T G Missense p.S1245R c.3733A>C 12 6696696 DLBCL TTC - InFrameDeletion p.K1191delK c.3570_3572delGAA 12 6697009 UCEC