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 57113354 57113354 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:57113354C>T c.1960G>A c.(1960-1962)Gac>Aac p.D654N ACC 12 57113563 57113564 + Frame_Shift_Del DEL AG AG - TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr12:57113563_57113564delAG c.1750_1751delCT c.(1750-1752)cttfs p.L584fs BLCA 12 57108199 57108199 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:57108199C>T c.5770G>A c.(5770-5772)Gaa>Aaa p.E1924K BLCA 12 57108465 57108465 + Missense_Mutation SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr12:57108465C>T c.5666G>A c.(5665-5667)gGa>gAa p.G1889E BLCA 12 57109759 57109759 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr12:57109759C>G c.5555G>C c.(5554-5556)gGa>gCa p.G1852A BLCA 12 57110018 57110018 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr12:57110018C>T c.5296G>A c.(5296-5298)Gag>Aag p.E1766K BLCA 12 57110111 57110111 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr12:57110111G>C c.5203C>G c.(5203-5205)Cca>Gca p.P1735A BLCA 12 57110190 57110190 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr12:57110190C>G c.5124G>C c.(5122-5124)aaG>aaC p.K1708N BLCA 12 57110801 57110801 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr12:57110801G>C c.4513C>G c.(4513-4515)Ctg>Gtg p.L1505V BLCA 12 57111049 57111049 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:57111049C>T c.4265G>A c.(4264-4266)aGa>aAa p.R1422K BLCA 12 57112272 57112272 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr12:57112272C>T c.3042G>A c.(3040-3042)gtG>gtA p.V1014V BLCA 12 57112904 57112904 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr12:57112904G>A c.2410C>T c.(2410-2412)Cag>Tag p.Q804* BLCA 12 57113652 57113652 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr12:57113652C>T c.1662G>A c.(1660-1662)aaG>aaA p.K554K BLCA 12 57113937 57113937 + Silent SNP T T A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr12:57113937T>A c.1377A>T c.(1375-1377)gtA>gtT p.V459V BLCA 12 57114255 57114255 + Silent SNP C C T TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr12:57114255C>T c.1059G>A c.(1057-1059)caG>caA p.Q353Q BLCA 12 57114257 57114257 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr12:57114257G>A c.1057C>T c.(1057-1059)Cag>Tag p.Q353* BLCA 12 57114317 57114317 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr12:57114317C>G c.997G>C c.(997-999)Gac>Cac p.D333H BLCA 12 57114321 57114321 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr12:57114321C>G c.993G>C c.(991-993)ttG>ttC p.L331F BLCA 12 57114946 57114946 + Missense_Mutation SNP A A G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 g.chr12:57114946A>G c.368T>C c.(367-369)aTa>aCa p.I123T BLCA 12 57118263 57118263 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 g.chr12:57118263C>T c.43G>A c.(43-45)Gag>Aag p.E15K BRCA 12 57110262 57110262 + Silent SNP T T C TCGA-B6-A0I1-01A-11D-A21Q-09 TCGA-B6-A0I1-10A-01D-A21Q-09 g.chr12:57110262T>C c.5052A>G c.(5050-5052)gtA>gtG p.V1684V BRCA 12 57110900 57110900 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 g.chr12:57110900G>T c.4414C>A c.(4414-4416)Cct>Act p.P1472T BRCA 12 57111533 57111534 + Frame_Shift_Ins INS - - G TCGA-BH-A0BJ-01A-11W-A071-09 TCGA-BH-A0BJ-10A-01W-A071-09 g.chr12:57111533_57111534insG c.3780_3781insC c.(3778-3783)cccaaafs p.K1261fs BRCA 12 57112229 57112229 + Missense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr12:57112229G>T c.3085C>A c.(3085-3087)Ccc>Acc p.P1029T BRCA 12 57113180 57113180 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:57113180G>C c.2134C>G c.(2134-2136)Cca>Gca p.P712A BRCA 12 57113341 57113341 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:57113341A>C c.1973T>G c.(1972-1974)gTg>gGg p.V658G BRCA 12 57114602 57114602 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:57114602T>G c.712A>C c.(712-714)Acc>Ccc p.T238P BRCA 12 57115051 57115051 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 g.chr12:57115051C>G c.263G>C c.(262-264)gGa>gCa p.G88A BRCA 12 57118242 57118242 + Missense_Mutation SNP C C T TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 g.chr12:57118242C>T c.64G>A c.(64-66)Gag>Aag p.E22K CESC 12 57107411 57107411 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:57107411C>T c.5880G>A c.(5878-5880)cgG>cgA p.R1960R CESC 12 57110236 57110236 + Missense_Mutation SNP G G C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 g.chr12:57110236G>C c.5078C>G c.(5077-5079)aCg>aGg p.T1693R CESC 12 57114446 57114446 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr12:57114446G>C c.868C>G c.(868-870)Caa>Gaa p.Q290E CHOL 12 57113583 57113583 + Silent SNP G G T TCGA-W5-AA2X-01A-11D-A417-09 TCGA-W5-AA2X-10A-01D-A41A-09 g.chr12:57113583G>T c.1731C>A c.(1729-1731)tcC>tcA p.S577S COAD 12 57106577 57106577 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:57106577G>A c.6215C>T c.(6214-6216)gCg>gTg p.A2072V COAD 12 57106875 57106875 + Missense_Mutation SNP T T G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:57106875T>G c.6070A>C c.(6070-6072)Act>Cct p.T2024P COAD 12 57106972 57106972 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:57106972G>A c.5973C>T c.(5971-5973)atC>atT p.I1991I COAD 12 57106972 57106972 + Silent SNP G G A TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr12:57106972G>A c.5973C>T c.(5971-5973)atC>atT p.I1991I COAD 12 57108427 57108427 + Missense_Mutation SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr12:57108427C>T c.5704G>A c.(5704-5706)Gaa>Aaa p.E1902K COAD 12 57109810 57109810 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:57109810G>A c.5504C>T c.(5503-5505)gCt>gTt p.A1835V COAD 12 57110008 57110008 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:57110008G>A c.5306C>T c.(5305-5307)gCg>gTg p.A1769V COAD 12 57110132 57110132 + Nonsense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr12:57110132C>A c.5182G>T c.(5182-5184)Gga>Tga p.G1728* COAD 12 57110594 57110594 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr12:57110594G>A c.4720C>T c.(4720-4722)Cca>Tca p.P1574S COAD 12 57111124 57111150 + In_Frame_Del DEL GATGGGATAGCTGGTCCTCTTTTGGGG GATGGGATAGCTGGTCCTCTTTTGGGG - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:57111124_57111150delGATGGGATAGCTGGTCCTCTTTTGGGG c.4164_4190delCCCCAAAAGAGGACCAGCTATCCCATC c.(4162-4191)tcccccaaaagaggaccagctatcccatct>tct p.1388_1397SPKRGPAIPS>S COAD 12 57111933 57111933 + Silent SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr12:57111933T>C c.3381A>G c.(3379-3381)acA>acG p.T1127T COAD 12 57113135 57113135 + Missense_Mutation SNP C C A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:57113135C>A c.2179G>T c.(2179-2181)Gcc>Tcc p.A727S COAD 12 57113233 57113233 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:57113233G>A c.2081C>T c.(2080-2082)aCt>aTt p.T694I COAD 12 57113254 57113254 + Frame_Shift_Del DEL T T - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr12:57113254delT c.2060delA c.(2059-2061)aacfs p.N687fs COAD 12 57113356 57113356 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:57113356G>A c.1958C>T c.(1957-1959)gCt>gTt p.A653V COAD 12 57113425 57113425 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:57113425T>C c.1889A>G c.(1888-1890)gAc>gGc p.D630G COAD 12 57113625 57113625 + Silent SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:57113625G>A c.1689C>T c.(1687-1689)gtC>gtT p.V563V COAD 12 57114013 57114013 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:57114013G>T c.1301C>A c.(1300-1302)tCt>tAt p.S434Y COAD 12 57114306 57114306 + Silent SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:57114306C>A c.1008G>T c.(1006-1008)gtG>gtT p.V336V COAD 12 57114325 57114325 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:57114325G>A c.989C>T c.(988-990)gCt>gTt p.A330V COAD 12 57114335 57114335 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:57114335C>A c.979G>T c.(979-981)Ggt>Tgt p.G327C COAD 12 57114538 57114538 + Missense_Mutation SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:57114538T>C c.776A>G c.(775-777)cAa>cGa p.Q259R COAD 12 57114545 57114545 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:57114545A>G c.769T>C c.(769-771)Tct>Cct p.S257P COAD 12 57114642 57114642 + Silent SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:57114642T>C c.672A>G c.(670-672)caA>caG p.Q224Q COAD 12 57115174 57115174 + Frame_Shift_Del DEL G G - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:57115174delG c.140delC c.(139-141)cctfs p.P48fs COADREAD 12 57106577 57106577 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:57106577G>A c.6215C>T c.(6214-6216)gCg>gTg p.A2072V COADREAD 12 57106875 57106875 + Missense_Mutation SNP T T G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:57106875T>G c.6070A>C c.(6070-6072)Act>Cct p.T2024P COADREAD 12 57106972 57106972 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:57106972G>A c.5973C>T c.(5971-5973)atC>atT p.I1991I COADREAD 12 57106972 57106972 + Silent SNP G G A TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr12:57106972G>A c.5973C>T c.(5971-5973)atC>atT p.I1991I COADREAD 12 57108427 57108427 + Missense_Mutation SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr12:57108427C>T c.5704G>A c.(5704-5706)Gaa>Aaa p.E1902K COADREAD 12 57109810 57109810 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:57109810G>A c.5504C>T c.(5503-5505)gCt>gTt p.A1835V COADREAD 12 57110008 57110008 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:57110008G>A c.5306C>T c.(5305-5307)gCg>gTg p.A1769V COADREAD 12 57110132 57110132 + Nonsense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr12:57110132C>A c.5182G>T c.(5182-5184)Gga>Tga p.G1728* COADREAD 12 57110594 57110594 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr12:57110594G>A c.4720C>T c.(4720-4722)Cca>Tca p.P1574S COADREAD 12 57111124 57111150 + In_Frame_Del DEL GATGGGATAGCTGGTCCTCTTTTGGGG GATGGGATAGCTGGTCCTCTTTTGGGG - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:57111124_57111150delGATGGGATAGCTGGTCCTCTTTTGGGG c.4164_4190delCCCCAAAAGAGGACCAGCTATCCCATC c.(4162-4191)tcccccaaaagaggaccagctatcccatct>tct p.1388_1397SPKRGPAIPS>S COADREAD 12 57111520 57111588 + In_Frame_Del DEL GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT - TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr12:57111520_57111588delGTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT c.3726_3794delAACCCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGGCCCAGCTACCCCACCCCCCAAAGGGGCCCCCAC c.(3724-3795)acaaccccagctgcaactcctccctccccaaaaggaggcccagctaccccaccccccaaaggggcccccact>act p.1242_1265TTPAATPPSPKGGPATPPPKGAPT>T COADREAD 12 57111608 57111608 + Missense_Mutation SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr12:57111608A>G c.3706T>C c.(3706-3708)Tcc>Ccc p.S1236P COADREAD 12 57111932 57111932 + Missense_Mutation SNP T T G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr12:57111932T>G c.3382A>C c.(3382-3384)Acc>Ccc p.T1128P COADREAD 12 57111933 57111933 + Silent SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr12:57111933T>C c.3381A>G c.(3379-3381)acA>acG p.T1127T COADREAD 12 57112022 57112022 + Missense_Mutation SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr12:57112022A>G c.3292T>C c.(3292-3294)Tcc>Ccc p.S1098P COADREAD 12 57112396 57112464 + In_Frame_Del DEL GGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA GGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA - TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr12:57112396_57112464delGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA c.2850_2918delTAAAGGAGGCCCAGCTACCCCATCCCCGAAATGGGCCCCCACACCCCCAGCTGCAACTCCTCCCTCCCC c.(2848-2919)cctaaaggaggcccagctaccccatccccgaaatgggcccccacacccccagctgcaactcctccctcccca>cca p.950_973PKGGPATPSPKWAPTPPAATPPSP>P COADREAD 12 57113135 57113135 + Missense_Mutation SNP C C A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:57113135C>A c.2179G>T c.(2179-2181)Gcc>Tcc p.A727S COADREAD 12 57113233 57113233 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:57113233G>A c.2081C>T c.(2080-2082)aCt>aTt p.T694I COADREAD 12 57113254 57113254 + Frame_Shift_Del DEL T T - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr12:57113254delT c.2060delA c.(2059-2061)aacfs p.N687fs COADREAD 12 57113356 57113356 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:57113356G>A c.1958C>T c.(1957-1959)gCt>gTt p.A653V COADREAD 12 57113425 57113425 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:57113425T>C c.1889A>G c.(1888-1890)gAc>gGc p.D630G COADREAD 12 57113625 57113625 + Silent SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:57113625G>A c.1689C>T c.(1687-1689)gtC>gtT p.V563V COADREAD 12 57114013 57114013 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:57114013G>T c.1301C>A c.(1300-1302)tCt>tAt p.S434Y COADREAD 12 57114306 57114306 + Silent SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:57114306C>A c.1008G>T c.(1006-1008)gtG>gtT p.V336V COADREAD 12 57114325 57114325 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:57114325G>A c.989C>T c.(988-990)gCt>gTt p.A330V COADREAD 12 57114335 57114335 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:57114335C>A c.979G>T c.(979-981)Ggt>Tgt p.G327C COADREAD 12 57114538 57114538 + Missense_Mutation SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:57114538T>C c.776A>G c.(775-777)cAa>cGa p.Q259R COADREAD 12 57114545 57114545 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:57114545A>G c.769T>C c.(769-771)Tct>Cct p.S257P COADREAD 12 57114642 57114642 + Silent SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:57114642T>C c.672A>G c.(670-672)caA>caG p.Q224Q COADREAD 12 57115174 57115174 + Frame_Shift_Del DEL G G - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:57115174delG c.140delC c.(139-141)cctfs p.P48fs DLBC 12 57114435 57114435 + Silent SNP C C T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr12:57114435C>T c.879G>A c.(877-879)gcG>gcA p.A293A DLBC 12 57118252 57118252 + Silent SNP C C T TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr12:57118252C>T c.54G>A c.(52-54)caG>caA p.Q18Q ESCA 12 57106968 57106968 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr12:57106968C>T c.5977G>A c.(5977-5979)Gat>Aat p.D1993N ESCA 12 57110462 57110462 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr12:57110462C>T c.4852G>A c.(4852-4854)Gct>Act p.A1618T ESCA 12 57111073 57111073 + Missense_Mutation SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr12:57111073T>C c.4241A>G c.(4240-4242)aAg>aGg p.K1414R ESCA 12 57111653 57111653 + Missense_Mutation SNP G G T TCGA-IG-A6QS-01A-12D-A33E-09 TCGA-IG-A6QS-10B-01D-A33H-09 g.chr12:57111653G>T c.3661C>A c.(3661-3663)Cca>Aca p.P1221T ESCA 12 57111774 57111774 + Silent SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr12:57111774A>G c.3540T>C c.(3538-3540)ccT>ccC p.P1180P ESCA 12 57112579 57112579 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr12:57112579G>C c.2735C>G c.(2734-2736)tCc>tGc p.S912C ESCA 12 57112994 57112994 + Missense_Mutation SNP C C G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 g.chr12:57112994C>G c.2320G>C c.(2320-2322)Gac>Cac p.D774H ESCA 12 57113631 57113631 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr12:57113631C>T c.1683G>A c.(1681-1683)ccG>ccA p.P561P ESCA 12 57114751 57114752 + Frame_Shift_Del DEL AG AG - TCGA-V5-A7RC-01B-11D-A403-09 TCGA-V5-A7RC-10A-01D-A403-09 g.chr12:57114751_57114752delAG c.562_563delCT c.(562-564)cttfs p.L188fs GBM 12 57108166 57108166 + Missense_Mutation SNP T T C TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 g.chr12:57108166T>C c.5803A>G c.(5803-5805)Agt>Ggt p.S1935G GBMLGG 12 57108166 57108166 + Missense_Mutation SNP T T C TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 g.chr12:57108166T>C c.5803A>G c.(5803-5805)Agt>Ggt p.S1935G GBMLGG 12 57110586 57110586 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 g.chr12:57110586G>A c.4728C>T c.(4726-4728)tcC>tcT p.S1576S GBMLGG 12 57110603 57110603 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57110603G>T c.4711C>A c.(4711-4713)Cca>Aca p.P1571T GBMLGG 12 57110851 57110853 + In_Frame_Del DEL GAA GAA - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 g.chr12:57110851_57110853delGAA c.4461_4463delTTC c.(4459-4464)tcttcc>tcc p.1487_1488SS>S GBMLGG 12 57111705 57111705 + Silent SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P GBMLGG 12 57111705 57111705 + Silent SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P GBMLGG 12 57111732 57111732 + Silent SNP G G T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 g.chr12:57111732G>T c.3582C>A c.(3580-3582)gcC>gcA p.A1194A GBMLGG 12 57111806 57111806 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57111806C>T c.3508G>A c.(3508-3510)Ggg>Agg p.G1170R GBMLGG 12 57112225 57112225 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57112225T>C c.3089A>G c.(3088-3090)aAa>aGa p.K1030R GBMLGG 12 57112308 57112308 + Silent SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 g.chr12:57112308A>G c.3006T>C c.(3004-3006)acT>acC p.T1002T GBMLGG 12 57112308 57112308 + Silent SNP A A G TCGA-HT-A5RC-01A-11D-A289-08 TCGA-HT-A5RC-10A-01D-A289-08 g.chr12:57112308A>G c.3006T>C c.(3004-3006)acT>acC p.T1002T GBMLGG 12 57112308 57112308 + Silent SNP A A G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 g.chr12:57112308A>G c.3006T>C c.(3004-3006)acT>acC p.T1002T GBMLGG 12 57112865 57112865 + Missense_Mutation SNP G G C TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr12:57112865G>C c.2449C>G c.(2449-2451)Cct>Gct p.P817A GBMLGG 12 57115005 57115005 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57115005T>C c.309A>G c.(307-309)ctA>ctG p.L103L HNSC 12 57106570 57106570 + Splice_Site SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57106570C>T c.6222G>A c.(6220-6222)atG>atA p.M2074I HNSC 12 57106606 57106606 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57106606C>T c.6186G>A c.(6184-6186)ctG>ctA p.L2062L HNSC 12 57106659 57106659 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57106659C>G c.6133G>C c.(6133-6135)Gaa>Caa p.E2045Q HNSC 12 57106861 57106861 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57106861C>G c.6084G>C c.(6082-6084)gaG>gaC p.E2028D HNSC 12 57106906 57106906 + Silent SNP G G C TCGA-CN-5366-01A-01D-1434-08 TCGA-CN-5366-10A-01D-1434-08 g.chr12:57106906G>C c.6039C>G c.(6037-6039)gtC>gtG p.V2013V HNSC 12 57107449 57107449 + Missense_Mutation SNP G G C TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr12:57107449G>C c.5842C>G c.(5842-5844)Ctt>Gtt p.L1948V HNSC 12 57108149 57108149 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57108149C>A c.5820G>T c.(5818-5820)cgG>cgT p.R1940R HNSC 12 57110190 57110190 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57110190C>G c.5124G>C c.(5122-5124)aaG>aaC p.K1708N HNSC 12 57110480 57110480 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57110480C>T c.4834G>A c.(4834-4836)Gag>Aag p.E1612K HNSC 12 57110522 57110522 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57110522C>G c.4792G>C c.(4792-4794)Gag>Cag p.E1598Q HNSC 12 57110609 57110609 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57110609C>G c.4705G>C c.(4705-4707)Gaa>Caa p.E1569Q HNSC 12 57110634 57110634 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57110634C>G c.4680G>C c.(4678-4680)aaG>aaC p.K1560N HNSC 12 57111028 57111028 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 g.chr12:57111028G>C c.4286C>G c.(4285-4287)tCc>tGc p.S1429C HNSC 12 57111165 57111165 + Silent SNP A A T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr12:57111165A>T c.4149T>A c.(4147-4149)gcT>gcA p.A1383A HNSC 12 57111479 57111479 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57111479C>G c.3835G>C c.(3835-3837)Gct>Cct p.A1279P HNSC 12 57111578 57111578 + Missense_Mutation SNP C C T TCGA-MT-A51X-01A-11D-A25Y-08 TCGA-MT-A51X-10A-01D-A25Y-08 g.chr12:57111578C>T c.3736G>A c.(3736-3738)Gca>Aca p.A1246T HNSC 12 57111742 57111742 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:57111742G>A c.3572C>T c.(3571-3573)cCc>cTc p.P1191L HNSC 12 57111743 57111743 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:57111743G>A c.3571C>T c.(3571-3573)Ccc>Tcc p.P1191S HNSC 12 57111775 57111775 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:57111775G>A c.3539C>T c.(3538-3540)cCt>cTt p.P1180L HNSC 12 57112023 57112023 + Silent SNP T T C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr12:57112023T>C c.3291A>G c.(3289-3291)ccA>ccG p.P1097P HNSC 12 57112034 57112034 + Missense_Mutation SNP G G A TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr12:57112034G>A c.3280C>T c.(3280-3282)Cca>Tca p.P1094S HNSC 12 57112046 57112046 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:57112046G>A c.3268C>T c.(3268-3270)Cca>Tca p.P1090S HNSC 12 57112180 57112180 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57112180C>T c.3134G>A c.(3133-3135)gGa>gAa p.G1045E HNSC 12 57112437 57112437 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr12:57112437C>T c.2877G>A c.(2875-2877)ccG>ccA p.P959P HNSC 12 57112459 57112459 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57112459C>T c.2855G>A c.(2854-2856)gGa>gAa p.G952E HNSC 12 57112598 57112604 + Frame_Shift_Del DEL TGGGTGC TGGGTGC - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr12:57112598_57112604delTGGGTGC c.2710_2716delGCACCCA c.(2710-2718)gcacccaaafs p.APK904fs HNSC 12 57112997 57112997 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:57112997C>A c.2317G>T c.(2317-2319)Gag>Tag p.E773* HNSC 12 57113701 57113701 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 g.chr12:57113701G>A c.1613C>T c.(1612-1614)tCt>tTt p.S538F HNSC 12 57113755 57113755 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr12:57113755C>A c.1559G>T c.(1558-1560)aGt>aTt p.S520I HNSC 12 57113764 57113764 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 g.chr12:57113764T>C c.1550A>G c.(1549-1551)aAt>aGt p.N517S HNSC 12 57114446 57114446 + Missense_Mutation SNP G G C TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 g.chr12:57114446G>C c.868C>G c.(868-870)Caa>Gaa p.Q290E KICH 12 57114975 57114975 + Silent SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr12:57114975T>C c.339A>G c.(337-339)ccA>ccG p.P113P KIPAN 12 57110097 57110097 + Silent SNP G G A TCGA-B8-5159-01A-01D-1421-08 TCGA-B8-5159-10A-01D-1421-08 g.chr12:57110097G>A c.5217C>T c.(5215-5217)ctC>ctT p.L1739L KIPAN 12 57112266 57112266 + Silent SNP A A G TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr12:57112266A>G c.3048T>C c.(3046-3048)ccT>ccC p.P1016P KIPAN 12 57114205 57114205 + Missense_Mutation SNP G G A TCGA-G7-6795-01A-11D-1961-08 TCGA-G7-6795-10A-01D-1962-08 g.chr12:57114205G>A c.1109C>T c.(1108-1110)aCt>aTt p.T370I KIPAN 12 57114669 57114669 + Missense_Mutation SNP G G C TCGA-CJ-4920-01A-01D-1429-08 TCGA-CJ-4920-11A-01D-1429-08 g.chr12:57114669G>C c.645C>G c.(643-645)caC>caG p.H215Q KIPAN 12 57114975 57114975 + Silent SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr12:57114975T>C c.339A>G c.(337-339)ccA>ccG p.P113P KIRC 12 57110097 57110097 + Silent SNP G G A TCGA-B8-5159-01A-01D-1421-08 TCGA-B8-5159-10A-01D-1421-08 g.chr12:57110097G>A c.5217C>T c.(5215-5217)ctC>ctT p.L1739L KIRC 12 57112266 57112266 + Silent SNP A A G TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr12:57112266A>G c.3048T>C c.(3046-3048)ccT>ccC p.P1016P KIRC 12 57114669 57114669 + Missense_Mutation SNP G G C TCGA-CJ-4920-01A-01D-1429-08 TCGA-CJ-4920-11A-01D-1429-08 g.chr12:57114669G>C c.645C>G c.(643-645)caC>caG p.H215Q KIRP 12 57114205 57114205 + Missense_Mutation SNP G G A TCGA-G7-6795-01A-11D-1961-08 TCGA-G7-6795-10A-01D-1962-08 g.chr12:57114205G>A c.1109C>T c.(1108-1110)aCt>aTt p.T370I LGG 12 57110586 57110586 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 g.chr12:57110586G>A c.4728C>T c.(4726-4728)tcC>tcT p.S1576S LGG 12 57110603 57110603 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57110603G>T c.4711C>A c.(4711-4713)Cca>Aca p.P1571T LGG 12 57110851 57110853 + In_Frame_Del DEL GAA GAA - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 g.chr12:57110851_57110853delGAA c.4461_4463delTTC c.(4459-4464)tcttcc>tcc p.1487_1488SS>S LGG 12 57111705 57111705 + Silent SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P LGG 12 57111705 57111705 + Silent SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P LGG 12 57111732 57111732 + Silent SNP G G T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 g.chr12:57111732G>T c.3582C>A c.(3580-3582)gcC>gcA p.A1194A LGG 12 57111806 57111806 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57111806C>T c.3508G>A c.(3508-3510)Ggg>Agg p.G1170R LGG 12 57112225 57112225 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57112225T>C c.3089A>G c.(3088-3090)aAa>aGa p.K1030R LGG 12 57112308 57112308 + Silent SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 g.chr12:57112308A>G c.3006T>C c.(3004-3006)acT>acC p.T1002T LGG 12 57112308 57112308 + Silent SNP A A G TCGA-HT-A5RC-01A-11D-A289-08 TCGA-HT-A5RC-10A-01D-A289-08 g.chr12:57112308A>G c.3006T>C c.(3004-3006)acT>acC p.T1002T LGG 12 57112308 57112308 + Silent SNP A A G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 g.chr12:57112308A>G c.3006T>C c.(3004-3006)acT>acC p.T1002T LGG 12 57112865 57112865 + Missense_Mutation SNP G G C TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr12:57112865G>C c.2449C>G c.(2449-2451)Cct>Gct p.P817A LGG 12 57115005 57115005 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57115005T>C c.309A>G c.(307-309)ctA>ctG p.L103L LIHC 12 57107416 57107416 + Missense_Mutation SNP T T C TCGA-DD-AAEB-01A-11D-A40R-10 TCGA-DD-AAEB-10A-01D-A40U-10 g.chr12:57107416T>C c.5875A>G c.(5875-5877)Atc>Gtc p.I1959V LIHC 12 57113526 57113526 + Silent SNP C C T TCGA-DD-AAVW-01A-11D-A40R-10 TCGA-DD-AAVW-10A-01D-A40U-10 g.chr12:57113526C>T c.1788G>A c.(1786-1788)ggG>ggA p.G596G LIHC 12 57113603 57113603 + Missense_Mutation SNP G G T TCGA-CC-A3MC-01A-11D-A22F-10 TCGA-CC-A3MC-10A-01D-A22F-10 g.chr12:57113603G>T c.1711C>A c.(1711-1713)Cct>Act p.P571T LIHC 12 57114040 57114040 + Missense_Mutation SNP T T C TCGA-2Y-A9GU-01A-11D-A382-10 TCGA-2Y-A9GU-10A-01D-A385-10 g.chr12:57114040T>C c.1274A>G c.(1273-1275)tAt>tGt p.Y425C LIHC 12 57114439 57114439 + Missense_Mutation SNP G G T TCGA-ED-A459-01A-11D-A25V-10 TCGA-ED-A459-10A-01D-A25V-10 g.chr12:57114439G>T c.875C>A c.(874-876)aCt>aAt p.T292N LIHC 12 57115063 57115063 + Missense_Mutation SNP T T A TCGA-FV-A495-01A-11D-A25V-10 TCGA-FV-A495-10A-01D-A25V-10 g.chr12:57115063T>A c.251A>T c.(250-252)cAg>cTg p.Q84L LUAD 12 57106635 57106635 + Missense_Mutation SNP C C G TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr12:57106635C>G c.6157G>C c.(6157-6159)Gtg>Ctg p.V2053L LUAD 12 57108150 57108150 + Missense_Mutation SNP C C T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr12:57108150C>T c.5819G>A c.(5818-5820)cGg>cAg p.R1940Q LUAD 12 57108218 57108218 + Silent SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chr12:57108218C>G c.5751G>C c.(5749-5751)gcG>gcC p.A1917A LUAD 12 57109916 57109916 + Missense_Mutation SNP G G C TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr12:57109916G>C c.5398C>G c.(5398-5400)Ctg>Gtg p.L1800V LUAD 12 57110315 57110315 + Nonsense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 g.chr12:57110315G>A c.4999C>T c.(4999-5001)Caa>Taa p.Q1667* LUAD 12 57110843 57110843 + Nonsense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr12:57110843T>A c.4471A>T c.(4471-4473)Aaa>Taa p.K1491* LUAD 12 57111705 57111705 + Silent SNP G G A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P LUAD 12 57111976 57111976 + Missense_Mutation SNP G G A TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr12:57111976G>A c.3338C>T c.(3337-3339)cCa>cTa p.P1113L LUAD 12 57112003 57112003 + Missense_Mutation SNP A A G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 g.chr12:57112003A>G c.3311T>C c.(3310-3312)aTg>aCg p.M1104T LUAD 12 57112308 57112308 + Silent SNP A A G TCGA-62-8398-01A-11D-2323-08 TCGA-62-8398-10A-01D-2323-08 g.chr12:57112308A>G c.3006T>C c.(3004-3006)acT>acC p.T1002T LUAD 12 57112842 57112842 + Silent SNP G G C TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr12:57112842G>C c.2472C>G c.(2470-2472)ctC>ctG p.L824L LUAD 12 57113686 57113687 + Frame_Shift_Del DEL GG GG - TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 g.chr12:57113686_57113687delGG c.1627_1628delCC c.(1627-1629)cctfs p.P543fs LUAD 12 57113816 57113819 + Frame_Shift_Del DEL TGGT TGGT - TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 g.chr12:57113816_57113819delTGGT c.1495_1498delACCA c.(1495-1500)accactfs p.TT499fs LUAD 12 57114590 57114590 + Missense_Mutation SNP C C T TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 g.chr12:57114590C>T c.724G>A c.(724-726)Gct>Act p.A242T LUAD 12 57115090 57115090 + Missense_Mutation SNP G G C TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr12:57115090G>C c.224C>G c.(223-225)tCg>tGg p.S75W LUAD 12 57115188 57115188 + Silent SNP T T A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr12:57115188T>A c.126A>T c.(124-126)ggA>ggT p.G42G OV 12 57106972 57106972 + Missense_Mutation SNP G G C TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 g.chr12:57106972G>C c.5973C>G c.(5971-5973)atC>atG p.I1991M OV 12 57111914 57111914 + Missense_Mutation SNP G G A TCGA-24-0979-01A-01W-0486-08 TCGA-24-0979-10B-01W-0486-08 g.chr12:57111914G>A c.3400C>T c.(3400-3402)Ccc>Tcc p.P1134S OV 12 57115174 57115174 + Missense_Mutation SNP G G T TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 g.chr12:57115174G>T c.140C>A c.(139-141)cCt>cAt p.P47H PAAD 12 57108169 57108169 + Missense_Mutation SNP G G A TCGA-IB-A6UG-01A-32D-A33T-08 TCGA-IB-A6UG-10A-01D-A33W-08 g.chr12:57108169G>A c.5800C>T c.(5800-5802)Cgg>Tgg p.R1934W PAAD 12 57109918 57109918 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57109918G>T c.5396C>A c.(5395-5397)tCt>tAt p.S1799Y PAAD 12 57110723 57110723 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57110723C>A c.4591G>T c.(4591-4593)Gcg>Tcg p.A1531S PAAD 12 57111542 57111542 + Missense_Mutation SNP G G A TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr12:57111542G>A c.3772C>T c.(3772-3774)Cca>Tca p.P1258S PAAD 12 57111554 57111554 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 g.chr12:57111554C>T c.3760G>A c.(3760-3762)Ggc>Agc p.G1254S PAAD 12 57111655 57111655 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57111655G>A c.3659C>T c.(3658-3660)aCc>aTc p.T1220I PAAD 12 57111688 57111688 + Missense_Mutation SNP A A G TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr12:57111688A>G c.3626T>C c.(3625-3627)cTa>cCa p.L1209P PAAD 12 57111705 57111705 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P PAAD 12 57111705 57111705 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P PAAD 12 57111746 57111746 + Missense_Mutation SNP A A G TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chr12:57111746A>G c.3568T>C c.(3568-3570)Tcc>Ccc p.S1190P PAAD 12 57111746 57111746 + Missense_Mutation SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 g.chr12:57111746A>G c.3568T>C c.(3568-3570)Tcc>Ccc p.S1190P PAAD 12 57111810 57111810 + Silent SNP T T G TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr12:57111810T>G c.3504A>C c.(3502-3504)ccA>ccC p.P1168P PAAD 12 57112272 57112272 + Silent SNP C C T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chr12:57112272C>T c.3042G>A c.(3040-3042)gtG>gtA p.V1014V PAAD 12 57113606 57113606 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57113606A>G c.1708T>C c.(1708-1710)Tcc>Ccc p.S570P PAAD 12 57114403 57114403 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57114403G>T c.911C>A c.(910-912)tCt>tAt p.S304Y PAAD 12 57115165 57115165 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57115165G>T c.149C>A c.(148-150)tCt>tAt p.S50Y PRAD 12 57109973 57109973 + Missense_Mutation SNP C C T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 g.chr12:57109973C>T c.5341G>A c.(5341-5343)Gtc>Atc p.V1781I PRAD 12 57110170 57110170 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:57110170G>T c.5144C>A c.(5143-5145)cCt>cAt p.P1715H PRAD 12 57111547 57111547 + Missense_Mutation SNP G G C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 g.chr12:57111547G>C c.3767C>G c.(3766-3768)gCt>gGt p.A1256G PRAD 12 57111705 57111705 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P PRAD 12 57112065 57112065 + Silent SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 g.chr12:57112065T>C c.3249A>G c.(3247-3249)ccA>ccG p.P1083P PRAD 12 57112089 57112089 + Silent SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 g.chr12:57112089G>A c.3225C>T c.(3223-3225)tcC>tcT p.S1075S PRAD 12 57112272 57112272 + Silent SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 g.chr12:57112272C>T c.3042G>A c.(3040-3042)gtG>gtA p.V1014V PRAD 12 57113481 57113481 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:57113481A>G c.1833T>C c.(1831-1833)ccT>ccC p.P611P READ 12 57111520 57111588 + In_Frame_Del DEL GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT - TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr12:57111520_57111588delGTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT c.3726_3794delAACCCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGGCCCAGCTACCCCACCCCCCAAAGGGGCCCCCAC c.(3724-3795)acaaccccagctgcaactcctccctccccaaaaggaggcccagctaccccaccccccaaaggggcccccact>act p.1242_1265TTPAATPPSPKGGPATPPPKGAPT>T READ 12 57111608 57111608 + Missense_Mutation SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr12:57111608A>G c.3706T>C c.(3706-3708)Tcc>Ccc p.S1236P READ 12 57111932 57111932 + Missense_Mutation SNP T T G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr12:57111932T>G c.3382A>C c.(3382-3384)Acc>Ccc p.T1128P READ 12 57112022 57112022 + Missense_Mutation SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr12:57112022A>G c.3292T>C c.(3292-3294)Tcc>Ccc p.S1098P READ 12 57112396 57112464 + In_Frame_Del DEL GGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA GGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA - TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr12:57112396_57112464delGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA c.2850_2918delTAAAGGAGGCCCAGCTACCCCATCCCCGAAATGGGCCCCCACACCCCCAGCTGCAACTCCTCCCTCCCC c.(2848-2919)cctaaaggaggcccagctaccccatccccgaaatgggcccccacacccccagctgcaactcctccctcccca>cca p.950_973PKGGPATPSPKWAPTPPAATPPSP>P SARC 12 57108172 57108172 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr12:57108172T>A c.5797A>T c.(5797-5799)Agt>Tgt p.S1933C SARC 12 57113564 57113564 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:57113564G>A c.1750C>T c.(1750-1752)Ctt>Ttt p.L584F SKCM 12 57109708 57109708 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:57109708C>T c.5606G>A c.(5605-5607)gGa>gAa p.G1869E SKCM 12 57109777 57109777 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr12:57109777G>A c.5537C>T c.(5536-5538)cCg>cTg p.P1846L SKCM 12 57110203 57110203 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr12:57110203G>A c.5111C>T c.(5110-5112)cCa>cTa p.P1704L SKCM 12 57110376 57110376 + Silent SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr12:57110376G>A c.4938C>T c.(4936-4938)tcC>tcT p.S1646S SKCM 12 57110418 57110418 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr12:57110418G>A c.4896C>T c.(4894-4896)gcC>gcT p.A1632A SKCM 12 57110587 57110587 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr12:57110587G>A c.4727C>T c.(4726-4728)tCc>tTc p.S1576F SKCM 12 57110594 57110594 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:57110594G>A c.4720C>T c.(4720-4722)Cca>Tca p.P1574S SKCM 12 57110644 57110644 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:57110644G>A c.4670C>T c.(4669-4671)tCc>tTc p.S1557F SKCM 12 57110776 57110776 + Missense_Mutation SNP G G A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr12:57110776G>A c.4538C>T c.(4537-4539)cCc>cTc p.P1513L SKCM 12 57110778 57110778 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr12:57110778G>A c.4536C>T c.(4534-4536)tcC>tcT p.S1512S SKCM 12 57110896 57110896 + Missense_Mutation SNP G G C TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr12:57110896G>C c.4418C>G c.(4417-4419)cCt>cGt p.P1473R SKCM 12 57110989 57110989 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr12:57110989G>A c.4325C>T c.(4324-4326)tCc>tTc p.S1442F SKCM 12 57111129 57111129 + Silent SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr12:57111129G>A c.4185C>T c.(4183-4185)atC>atT p.I1395I SKCM 12 57111221 57111221 + Missense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr12:57111221A>T c.4093T>A c.(4093-4095)Tcc>Acc p.S1365T SKCM 12 57111267 57111267 + Silent SNP G G A TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr12:57111267G>A c.4047C>T c.(4045-4047)ctC>ctT p.L1349L SKCM 12 57111289 57111289 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr12:57111289G>A c.4025C>T c.(4024-4026)tCc>tTc p.S1342F SKCM 12 57111308 57111308 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr12:57111308G>A c.4006C>T c.(4006-4008)Cca>Tca p.P1336S SKCM 12 57111328 57111328 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr12:57111328G>A c.3986C>T c.(3985-3987)cCc>cTc p.P1329L SKCM 12 57111330 57111330 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:57111330G>A c.3984C>T c.(3982-3984)ccC>ccT p.P1328P SKCM 12 57111344 57111344 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr12:57111344G>A c.3970C>T c.(3970-3972)Cca>Tca p.P1324S SKCM 12 57111517 57111517 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr12:57111517G>A c.3797C>T c.(3796-3798)cCc>cTc p.P1266L SKCM 12 57111634 57111634 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr12:57111634G>A c.3680C>T c.(3679-3681)tCc>tTc p.S1227F SKCM 12 57111674 57111674 + Missense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr12:57111674G>A c.3640C>T c.(3640-3642)Ccc>Tcc p.P1214S SKCM 12 57111705 57111705 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:57111705G>A c.3609C>T c.(3607-3609)ccC>ccT p.P1203P SKCM 12 57111746 57111746 + Missense_Mutation SNP A A G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr12:57111746A>G c.3568T>C c.(3568-3570)Tcc>Ccc p.S1190P SKCM 12 57111770 57111770 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr12:57111770G>A c.3544C>T c.(3544-3546)Cca>Tca p.P1182S SKCM 12 57111791 57111791 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:57111791G>A c.3523C>T c.(3523-3525)Cca>Tca p.P1175S SKCM 12 57111812 57111812 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:57111812G>A c.3502C>T c.(3502-3504)Cca>Tca p.P1168S SKCM 12 57111841 57111841 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr12:57111841G>A c.3473C>T c.(3472-3474)tCc>tTc p.S1158F SKCM 12 57111881 57111881 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:57111881G>A c.3433C>T c.(3433-3435)Cca>Tca p.P1145S SKCM 12 57111978 57111978 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr12:57111978G>A c.3336C>T c.(3334-3336)tcC>tcT p.S1112S SKCM 12 57112020 57112020 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:57112020G>A c.3294C>T c.(3292-3294)tcC>tcT p.S1098S SKCM 12 57112047 57112047 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:57112047G>A c.3267C>T c.(3265-3267)tcC>tcT p.S1089S SKCM 12 57112116 57112116 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr12:57112116G>A c.3198C>T c.(3196-3198)tcC>tcT p.S1066S SKCM 12 57112329 57112329 + Silent SNP G G A TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr12:57112329G>A c.2985C>T c.(2983-2985)tcC>tcT p.S995S SKCM 12 57112330 57112330 + Missense_Mutation SNP G G A TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr12:57112330G>A c.2984C>T c.(2983-2985)tCc>tTc p.S995F SKCM 12 57112468 57112468 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:57112468G>A c.2846C>T c.(2845-2847)tCc>tTc p.S949F SKCM 12 57112534 57112534 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:57112534G>A c.2780C>T c.(2779-2781)cCt>cTt p.P927L SKCM 12 57112535 57112535 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:57112535G>A c.2779C>T c.(2779-2781)Cct>Tct p.P927S SKCM 12 57112564 57112564 + Missense_Mutation SNP G G A TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr12:57112564G>A c.2750C>T c.(2749-2751)tCc>tTc p.S917F SKCM 12 57112564 57112564 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:57112564G>A c.2750C>T c.(2749-2751)tCc>tTc p.S917F SKCM 12 57112693 57112693 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr12:57112693G>A c.2621C>T c.(2620-2622)tCt>tTt p.S874F SKCM 12 57112813 57112813 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:57112813G>A c.2501C>T c.(2500-2502)tCa>tTa p.S834L SKCM 12 57113173 57113173 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr12:57113173G>A c.2141C>T c.(2140-2142)cCc>cTc p.P714L SKCM 12 57113260 57113260 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:57113260G>A c.2054C>T c.(2053-2055)cCt>cTt p.P685L SKCM 12 57113290 57113290 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:57113290G>A c.2024C>T c.(2023-2025)cCt>cTt p.P675L SKCM 12 57113369 57113369 + Missense_Mutation SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 g.chr12:57113369G>A c.1945C>T c.(1945-1947)Cct>Tct p.P649S SKCM 12 57113848 57113848 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:57113848G>A c.1466C>T c.(1465-1467)gCt>gTt p.A489V SKCM 12 57114010 57114010 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr12:57114010G>A c.1304C>T c.(1303-1305)tCt>tTt p.S435F SKCM 12 57114409 57114409 + Missense_Mutation SNP G G A TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr12:57114409G>A c.905C>T c.(904-906)cCc>cTc p.P302L SKCM 12 57114410 57114410 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr12:57114410G>A c.904C>T c.(904-906)Ccc>Tcc p.P302S SKCM 12 57114431 57114431 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:57114431G>A c.883C>T c.(883-885)Ccc>Tcc p.P295S SKCM 12 57114463 57114463 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:57114463G>A c.851C>T c.(850-852)cCt>cTt p.P284L SKCM 12 57114700 57114700 + Missense_Mutation SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr12:57114700G>A c.614C>T c.(613-615)cCt>cTt p.P205L SKCM 12 57114739 57114739 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr12:57114739G>A c.575C>T c.(574-576)cCc>cTc p.P192L SKCM 12 57114891 57114891 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:57114891G>A c.423C>T c.(421-423)gcC>gcT p.A141A SKCM 12 57115012 57115012 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr12:57115012G>A c.302C>T c.(301-303)aCc>aTc p.T101I

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 57118239 57118239 single base substitution T G 5_prime_UTR_variant BLCA-CN 12 57118239 57118239 single base substitution T G downstream_gene_variant BLCA-CN 12 57118239 57118239 single base substitution T G exon_variant BLCA-CN 12 57118239 57118239 single base substitution T G missense_variant T23P 67A>C BLCA-CN 12 57118239 57118239 single base substitution T G upstream_gene_variant BLCA-US 12 57108199 57108199 single base substitution C T 3_prime_UTR_variant BLCA-US 12 57108199 57108199 single base substitution C T 5_prime_UTR_variant BLCA-US 12 57108199 57108199 single base substitution C T exon_variant BLCA-US 12 57108199 57108199 single base substitution C T intron_variant BLCA-US 12 57108199 57108199 single base substitution C T missense_variant E1924K 5770G>A BLCA-US 12 57108199 57108199 single base substitution C T missense_variant E57K 169G>A BLCA-US 12 57108199 57108199 single base substitution C T missense_variant E59K 175G>A BLCA-US 12 57108199 57108199 single base substitution C T missense_variant E61K 181G>A BLCA-US 12 57108199 57108199 single base substitution C T missense_variant E771K 2311G>A BLCA-US 12 57108199 57108199 single base substitution C T upstream_gene_variant BOCA-FR 12 57109124 57109124 single base substitution T C intron_variant BOCA-FR 12 57109124 57109124 single base substitution T C upstream_gene_variant BRCA-EU 12 57101434 57101434 single base substitution G A downstream_gene_variant BRCA-EU 12 57103061 57103061 single base substitution C T downstream_gene_variant BRCA-EU 12 57103116 57103119 deletion of <=200bp GAGA - downstream_gene_variant BRCA-EU 12 57103287 57103287 single base substitution C G downstream_gene_variant BRCA-EU 12 57103847 57103847 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 57103907 57103907 single base substitution C T downstream_gene_variant BRCA-EU 12 57105006 57105006 single base substitution C G downstream_gene_variant BRCA-EU 12 57106831 57106831 single base substitution G C downstream_gene_variant BRCA-EU 12 57106831 57106831 single base substitution G C intron_variant BRCA-EU 12 57106832 57106835 deletion of <=200bp ATTT - downstream_gene_variant BRCA-EU 12 57106832 57106835 deletion of <=200bp ATTT - intron_variant BRCA-EU 12 57107369 57107369 single base substitution G C downstream_gene_variant BRCA-EU 12 57107369 57107369 single base substitution G C exon_variant BRCA-EU 12 57107369 57107369 single base substitution G C synonymous_variant V107V 321C>G BRCA-EU 12 57107369 57107369 single base substitution G C synonymous_variant V109V 327C>G BRCA-EU 12 57107369 57107369 single base substitution G C synonymous_variant V111V 333C>G BRCA-EU 12 57107369 57107369 single base substitution G C synonymous_variant V1974V 5922C>G BRCA-EU 12 57107369 57107369 single base substitution G C synonymous_variant V32V 96C>G BRCA-EU 12 57107369 57107369 single base substitution G C synonymous_variant V821V 2463C>G BRCA-EU 12 57107369 57107369 single base substitution G C upstream_gene_variant BRCA-EU 12 57107393 57107393 single base substitution G A downstream_gene_variant BRCA-EU 12 57107393 57107393 single base substitution G A exon_variant BRCA-EU 12 57107393 57107393 single base substitution G A intron_variant BRCA-EU 12 57107393 57107393 single base substitution G A synonymous_variant L101L 303C>T BRCA-EU 12 57107393 57107393 single base substitution G A synonymous_variant L103L 309C>T BRCA-EU 12 57107393 57107393 single base substitution G A synonymous_variant L1966L 5898C>T BRCA-EU 12 57107393 57107393 single base substitution G A synonymous_variant L24L 72C>T BRCA-EU 12 57107393 57107393 single base substitution G A synonymous_variant L813L 2439C>T BRCA-EU 12 57107393 57107393 single base substitution G A synonymous_variant L99L 297C>T BRCA-EU 12 57107393 57107393 single base substitution G A upstream_gene_variant BRCA-EU 12 57107432 57107432 single base substitution T C downstream_gene_variant BRCA-EU 12 57107432 57107432 single base substitution T C intron_variant BRCA-EU 12 57107432 57107432 single base substitution T C splice_region_variant BRCA-EU 12 57107432 57107432 single base substitution T C synonymous_variant G11G 33A>G BRCA-EU 12 57107432 57107432 single base substitution T C synonymous_variant G1953G 5859A>G BRCA-EU 12 57107432 57107432 single base substitution T C synonymous_variant G800G 2400A>G BRCA-EU 12 57107432 57107432 single base substitution T C synonymous_variant G86G 258A>G BRCA-EU 12 57107432 57107432 single base substitution T C synonymous_variant G88G 264A>G BRCA-EU 12 57107432 57107432 single base substitution T C synonymous_variant G90G 270A>G BRCA-EU 12 57107432 57107432 single base substitution T C upstream_gene_variant BRCA-EU 12 57107444 57107444 single base substitution C T downstream_gene_variant BRCA-EU 12 57107444 57107444 single base substitution C T intron_variant BRCA-EU 12 57107444 57107444 single base substitution C T synonymous_variant R1949R 5847G>A BRCA-EU 12 57107444 57107444 single base substitution C T synonymous_variant R796R 2388G>A BRCA-EU 12 57107444 57107444 single base substitution C T synonymous_variant R7R 21G>A BRCA-EU 12 57107444 57107444 single base substitution C T synonymous_variant R82R 246G>A BRCA-EU 12 57107444 57107444 single base substitution C T synonymous_variant R84R 252G>A BRCA-EU 12 57107444 57107444 single base substitution C T synonymous_variant R86R 258G>A BRCA-EU 12 57107444 57107444 single base substitution C T upstream_gene_variant BRCA-EU 12 57108429 57108429 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 57108429 57108429 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 57108429 57108429 single base substitution A G exon_variant BRCA-EU 12 57108429 57108429 single base substitution A G missense_variant L1901P 5702T>C BRCA-EU 12 57108429 57108429 single base substitution A G missense_variant L34P 101T>C BRCA-EU 12 57108429 57108429 single base substitution A G missense_variant L36P 107T>C BRCA-EU 12 57108429 57108429 single base substitution A G missense_variant L38P 113T>C BRCA-EU 12 57108429 57108429 single base substitution A G missense_variant L748P 2243T>C BRCA-EU 12 57108429 57108429 single base substitution A G upstream_gene_variant BRCA-EU 12 57108545 57108545 single base substitution G T intron_variant BRCA-EU 12 57108545 57108545 single base substitution G T upstream_gene_variant BRCA-EU 12 57110303 57110303 single base substitution C A intron_variant BRCA-EU 12 57110303 57110303 single base substitution C A missense_variant G1671W 5011G>T BRCA-EU 12 57110303 57110303 single base substitution C A upstream_gene_variant BRCA-EU 12 57111103 57111103 single base substitution G A intron_variant BRCA-EU 12 57111103 57111103 single base substitution G A missense_variant S1404F 4211C>T BRCA-EU 12 57111103 57111103 single base substitution G A upstream_gene_variant BRCA-EU 12 57112440 57112440 single base substitution G A intron_variant BRCA-EU 12 57112440 57112440 single base substitution G A synonymous_variant S958S 2874C>T BRCA-EU 12 57112440 57112440 single base substitution G A upstream_gene_variant BRCA-EU 12 57114226 57114226 single base substitution C G downstream_gene_variant BRCA-EU 12 57114226 57114226 single base substitution C G intron_variant BRCA-EU 12 57114226 57114226 single base substitution C G missense_variant R363T 1088G>C BRCA-EU 12 57114226 57114226 single base substitution C G upstream_gene_variant BRCA-EU 12 57116340 57116347 deletion of <=200bp TGTACACC - downstream_gene_variant BRCA-EU 12 57116340 57116347 deletion of <=200bp TGTACACC - intron_variant BRCA-EU 12 57116340 57116347 deletion of <=200bp TGTACACC - upstream_gene_variant BRCA-EU 12 57118492 57118492 single base substitution C G intron_variant BRCA-EU 12 57119453 57119453 single base substitution G C 5_prime_UTR_variant BRCA-EU 12 57119453 57119453 single base substitution G C intron_variant BRCA-EU 12 57119453 57119453 single base substitution G C upstream_gene_variant BRCA-EU 12 57119562 57119562 single base substitution G A 5_prime_UTR_variant BRCA-EU 12 57119562 57119562 single base substitution G A intron_variant BRCA-EU 12 57119562 57119562 single base substitution G A upstream_gene_variant BRCA-EU 12 57120633 57120633 single base substitution C A 5_prime_UTR_variant BRCA-EU 12 57120633 57120633 single base substitution C A intron_variant BRCA-EU 12 57120633 57120633 single base substitution C A upstream_gene_variant BRCA-EU 12 57121888 57121888 single base substitution C A intron_variant BRCA-EU 12 57121888 57121888 single base substitution C A upstream_gene_variant BRCA-EU 12 57122035 57122035 single base substitution T C intron_variant BRCA-EU 12 57122035 57122035 single base substitution T C upstream_gene_variant BRCA-EU 12 57122345 57122345 single base substitution G A intron_variant BRCA-EU 12 57122345 57122345 single base substitution G A upstream_gene_variant BRCA-EU 12 57123806 57123806 single base substitution C T intron_variant BRCA-EU 12 57123806 57123806 single base substitution C T upstream_gene_variant BRCA-EU 12 57124440 57124440 single base substitution C T intron_variant BRCA-EU 12 57124440 57124440 single base substitution C T upstream_gene_variant BRCA-EU 12 57124820 57124820 single base substitution C T intron_variant BRCA-EU 12 57124820 57124820 single base substitution C T upstream_gene_variant BRCA-EU 12 57124967 57124967 single base substitution C T intron_variant BRCA-EU 12 57124967 57124967 single base substitution C T upstream_gene_variant BRCA-EU 12 57124999 57124999 single base substitution C T intron_variant BRCA-EU 12 57124999 57124999 single base substitution C T upstream_gene_variant BRCA-EU 12 57125629 57125629 single base substitution A G upstream_gene_variant BRCA-EU 12 57126432 57126432 single base substitution T G upstream_gene_variant BRCA-EU 12 57126534 57126534 single base substitution C T upstream_gene_variant BRCA-EU 12 57127026 57127026 single base substitution C G upstream_gene_variant BRCA-EU 12 57127744 57127744 single base substitution C G upstream_gene_variant BRCA-EU 12 57128096 57128096 single base substitution A C upstream_gene_variant BRCA-EU 12 57128389 57128389 single base substitution C G upstream_gene_variant BRCA-EU 12 57128709 57128709 single base substitution C A upstream_gene_variant BRCA-EU 12 57129002 57129002 single base substitution C A upstream_gene_variant BRCA-FR 12 57114226 57114226 single base substitution C G downstream_gene_variant BRCA-FR 12 57114226 57114226 single base substitution C G intron_variant BRCA-FR 12 57114226 57114226 single base substitution C G missense_variant R363T 1088G>C BRCA-FR 12 57114226 57114226 single base substitution C G upstream_gene_variant BRCA-FR 12 57117343 57117343 single base substitution C G downstream_gene_variant BRCA-FR 12 57117343 57117343 single base substitution C G intron_variant BRCA-FR 12 57117343 57117343 single base substitution C G upstream_gene_variant BRCA-FR 12 57120633 57120633 single base substitution C A 5_prime_UTR_variant BRCA-FR 12 57120633 57120633 single base substitution C A intron_variant BRCA-FR 12 57120633 57120633 single base substitution C A upstream_gene_variant BRCA-FR 12 57123806 57123806 single base substitution C T intron_variant BRCA-FR 12 57123806 57123806 single base substitution C T upstream_gene_variant BRCA-FR 12 57124967 57124967 single base substitution C T intron_variant BRCA-FR 12 57124967 57124967 single base substitution C T upstream_gene_variant BRCA-FR 12 57126432 57126432 single base substitution T G upstream_gene_variant BRCA-FR 12 57126534 57126534 single base substitution C T upstream_gene_variant BRCA-FR 12 57127744 57127744 single base substitution C G upstream_gene_variant BRCA-FR 12 57128096 57128096 single base substitution A C upstream_gene_variant BRCA-FR 12 57128300 57128300 single base substitution C T upstream_gene_variant BRCA-FR 12 57128389 57128389 single base substitution C G upstream_gene_variant BRCA-UK 12 57105472 57105472 single base substitution C T downstream_gene_variant BRCA-UK 12 57108429 57108429 single base substitution A G 3_prime_UTR_variant BRCA-UK 12 57108429 57108429 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 12 57108429 57108429 single base substitution A G exon_variant BRCA-UK 12 57108429 57108429 single base substitution A G missense_variant L1901P 5702T>C BRCA-UK 12 57108429 57108429 single base substitution A G missense_variant L34P 101T>C BRCA-UK 12 57108429 57108429 single base substitution A G missense_variant L36P 107T>C BRCA-UK 12 57108429 57108429 single base substitution A G missense_variant L38P 113T>C BRCA-UK 12 57108429 57108429 single base substitution A G missense_variant L748P 2243T>C BRCA-UK 12 57108429 57108429 single base substitution A G upstream_gene_variant BRCA-UK 12 57121888 57121888 single base substitution C A intron_variant BRCA-UK 12 57121888 57121888 single base substitution C A upstream_gene_variant BRCA-UK 12 57128709 57128709 single base substitution C A upstream_gene_variant BRCA-UK 12 57130311 57130311 single base substitution G A upstream_gene_variant BRCA-UK 12 57130337 57130337 single base substitution G C upstream_gene_variant BRCA-US 12 57110262 57110262 single base substitution T C intron_variant BRCA-US 12 57110262 57110262 single base substitution T C synonymous_variant V1684V 5052A>G BRCA-US 12 57110262 57110262 single base substitution T C upstream_gene_variant BRCA-US 12 57110900 57110900 single base substitution G T intron_variant BRCA-US 12 57110900 57110900 single base substitution G T missense_variant P1472T 4414C>A BRCA-US 12 57110900 57110900 single base substitution G T upstream_gene_variant BRCA-US 12 57111533 57111533 insertion of <=200bp - G frameshift_variant K1261T? BRCA-US 12 57111533 57111533 insertion of <=200bp - G intron_variant BRCA-US 12 57111533 57111533 insertion of <=200bp - G upstream_gene_variant BRCA-US 12 57112229 57112229 single base substitution G T intron_variant BRCA-US 12 57112229 57112229 single base substitution G T missense_variant P1029T 3085C>A BRCA-US 12 57112229 57112229 single base substitution G T upstream_gene_variant BRCA-US 12 57113180 57113180 single base substitution G C intron_variant BRCA-US 12 57113180 57113180 single base substitution G C missense_variant P712A 2134C>G BRCA-US 12 57113180 57113180 single base substitution G C upstream_gene_variant BRCA-US 12 57113341 57113341 single base substitution A C downstream_gene_variant BRCA-US 12 57113341 57113341 single base substitution A C intron_variant BRCA-US 12 57113341 57113341 single base substitution A C missense_variant V15G 44T>G BRCA-US 12 57113341 57113341 single base substitution A C missense_variant V615G 1844T>G BRCA-US 12 57113341 57113341 single base substitution A C missense_variant V658G 1973T>G BRCA-US 12 57113341 57113341 single base substitution A C upstream_gene_variant BRCA-US 12 57114602 57114602 single base substitution T G downstream_gene_variant BRCA-US 12 57114602 57114602 single base substitution T G intron_variant BRCA-US 12 57114602 57114602 single base substitution T G missense_variant T238P 712A>C BRCA-US 12 57114602 57114602 single base substitution T G upstream_gene_variant BRCA-US 12 57115051 57115051 single base substitution C G downstream_gene_variant BRCA-US 12 57115051 57115051 single base substitution C G intron_variant BRCA-US 12 57115051 57115051 single base substitution C G missense_variant G88A 263G>C BRCA-US 12 57115051 57115051 single base substitution C G upstream_gene_variant BRCA-US 12 57118242 57118242 single base substitution C T 5_prime_UTR_variant BRCA-US 12 57118242 57118242 single base substitution C T downstream_gene_variant BRCA-US 12 57118242 57118242 single base substitution C T exon_variant BRCA-US 12 57118242 57118242 single base substitution C T missense_variant E22K 64G>A BRCA-US 12 57118242 57118242 single base substitution C T upstream_gene_variant BTCA-JP 12 57106577 57106577 single base substitution G A 3_prime_UTR_variant BTCA-JP 12 57106577 57106577 single base substitution G A downstream_gene_variant BTCA-JP 12 57106577 57106577 single base substitution G A exon_variant BTCA-JP 12 57106577 57106577 single base substitution G A missense_variant A130V 389C>T BTCA-JP 12 57106577 57106577 single base substitution G A missense_variant A2072V 6215C>T BTCA-JP 12 57106577 57106577 single base substitution G A missense_variant A207V 620C>T BTCA-JP 12 57106577 57106577 single base substitution G A missense_variant A209V 626C>T BTCA-JP 12 57106577 57106577 single base substitution G A missense_variant A919V 2756C>T BTCA-JP 12 57109567 57109567 single base substitution C T intron_variant BTCA-JP 12 57109567 57109567 single base substitution C T upstream_gene_variant BTCA-JP 12 57112785 57112788 deletion of <=200bp GAAA - frameshift_variant SF842 BTCA-JP 12 57112785 57112788 deletion of <=200bp GAAA - intron_variant BTCA-JP 12 57112785 57112788 deletion of <=200bp GAAA - upstream_gene_variant BTCA-JP 12 57113740 57113740 single base substitution T A downstream_gene_variant BTCA-JP 12 57113740 57113740 single base substitution T A intron_variant BTCA-JP 12 57113740 57113740 single base substitution T A missense_variant K525I 1574A>T BTCA-JP 12 57113740 57113740 single base substitution T A upstream_gene_variant BTCA-JP 12 57118416 57118416 single base substitution T C intron_variant CESC-US 12 57107411 57107411 single base substitution C T downstream_gene_variant CESC-US 12 57107411 57107411 single base substitution C T exon_variant CESC-US 12 57107411 57107411 single base substitution C T intron_variant CESC-US 12 57107411 57107411 single base substitution C T synonymous_variant R18R 54G>A CESC-US 12 57107411 57107411 single base substitution C T synonymous_variant R1960R 5880G>A CESC-US 12 57107411 57107411 single base substitution C T synonymous_variant R807R 2421G>A CESC-US 12 57107411 57107411 single base substitution C T synonymous_variant R93R 279G>A CESC-US 12 57107411 57107411 single base substitution C T synonymous_variant R95R 285G>A CESC-US 12 57107411 57107411 single base substitution C T synonymous_variant R97R 291G>A CESC-US 12 57107411 57107411 single base substitution C T upstream_gene_variant CESC-US 12 57110236 57110236 single base substitution G C intron_variant CESC-US 12 57110236 57110236 single base substitution G C missense_variant T1693R 5078C>G CESC-US 12 57110236 57110236 single base substitution G C upstream_gene_variant CESC-US 12 57114446 57114446 single base substitution G C downstream_gene_variant CESC-US 12 57114446 57114446 single base substitution G C intron_variant CESC-US 12 57114446 57114446 single base substitution G C missense_variant Q290E 868C>G CESC-US 12 57114446 57114446 single base substitution G C upstream_gene_variant CESC-US 12 57127958 57127958 single base substitution G A upstream_gene_variant CLLE-ES 12 57117677 57117677 single base substitution A T downstream_gene_variant CLLE-ES 12 57117677 57117677 single base substitution A T intron_variant CLLE-ES 12 57117677 57117677 single base substitution A T upstream_gene_variant CLLE-ES 12 57118006 57118006 single base substitution T C downstream_gene_variant CLLE-ES 12 57118006 57118006 single base substitution T C intron_variant CLLE-ES 12 57118006 57118006 single base substitution T C upstream_gene_variant CLLE-ES 12 57119226 57119226 single base substitution T G 5_prime_UTR_variant CLLE-ES 12 57119226 57119226 single base substitution T G upstream_gene_variant CLLE-ES 12 57122331 57122331 single base substitution G A intron_variant CLLE-ES 12 57122331 57122331 single base substitution G A upstream_gene_variant CLLE-ES 12 57122561 57122561 single base substitution G A intron_variant CLLE-ES 12 57122561 57122561 single base substitution G A upstream_gene_variant COAD-US 12 57106577 57106577 single base substitution G A 3_prime_UTR_variant COAD-US 12 57106577 57106577 single base substitution G A downstream_gene_variant COAD-US 12 57106577 57106577 single base substitution G A exon_variant COAD-US 12 57106577 57106577 single base substitution G A missense_variant A130V 389C>T COAD-US 12 57106577 57106577 single base substitution G A missense_variant A2072V 6215C>T COAD-US 12 57106577 57106577 single base substitution G A missense_variant A207V 620C>T COAD-US 12 57106577 57106577 single base substitution G A missense_variant A209V 626C>T COAD-US 12 57106577 57106577 single base substitution G A missense_variant A919V 2756C>T COAD-US 12 57108427 57108427 single base substitution C T 3_prime_UTR_variant COAD-US 12 57108427 57108427 single base substitution C T 5_prime_UTR_variant COAD-US 12 57108427 57108427 single base substitution C T exon_variant COAD-US 12 57108427 57108427 single base substitution C T missense_variant E1902K 5704G>A COAD-US 12 57108427 57108427 single base substitution C T missense_variant E35K 103G>A COAD-US 12 57108427 57108427 single base substitution C T missense_variant E37K 109G>A COAD-US 12 57108427 57108427 single base substitution C T missense_variant E39K 115G>A COAD-US 12 57108427 57108427 single base substitution C T missense_variant E749K 2245G>A COAD-US 12 57108427 57108427 single base substitution C T upstream_gene_variant COAD-US 12 57109810 57109810 single base substitution G A intron_variant COAD-US 12 57109810 57109810 single base substitution G A missense_variant A1835V 5504C>T COAD-US 12 57109810 57109810 single base substitution G A missense_variant A682V 2045C>T COAD-US 12 57109810 57109810 single base substitution G A upstream_gene_variant COAD-US 12 57114306 57114306 single base substitution C A downstream_gene_variant COAD-US 12 57114306 57114306 single base substitution C A intron_variant COAD-US 12 57114306 57114306 single base substitution C A synonymous_variant V336V 1008G>T COAD-US 12 57114306 57114306 single base substitution C A upstream_gene_variant COAD-US 12 57114325 57114325 single base substitution G A downstream_gene_variant COAD-US 12 57114325 57114325 single base substitution G A intron_variant COAD-US 12 57114325 57114325 single base substitution G A missense_variant A330V 989C>T COAD-US 12 57114325 57114325 single base substitution G A upstream_gene_variant COAD-US 12 57114538 57114538 single base substitution T C downstream_gene_variant COAD-US 12 57114538 57114538 single base substitution T C intron_variant COAD-US 12 57114538 57114538 single base substitution T C missense_variant Q259R 776A>G COAD-US 12 57114538 57114538 single base substitution T C upstream_gene_variant COAD-US 12 57114642 57114642 single base substitution T C downstream_gene_variant COAD-US 12 57114642 57114642 single base substitution T C intron_variant COAD-US 12 57114642 57114642 single base substitution T C synonymous_variant Q224Q 672A>G COAD-US 12 57114642 57114642 single base substitution T C upstream_gene_variant COAD-US 12 57128014 57128014 single base substitution C T upstream_gene_variant COCA-CN 12 57103937 57103937 single base substitution G C downstream_gene_variant COCA-CN 12 57107406 57107406 single base substitution G T downstream_gene_variant COCA-CN 12 57107406 57107406 single base substitution G T exon_variant COCA-CN 12 57107406 57107406 single base substitution G T intron_variant COCA-CN 12 57107406 57107406 single base substitution G T missense_variant S1962Y 5885C>A COCA-CN 12 57107406 57107406 single base substitution G T missense_variant S20Y 59C>A COCA-CN 12 57107406 57107406 single base substitution G T missense_variant S809Y 2426C>A COCA-CN 12 57107406 57107406 single base substitution G T missense_variant S95Y 284C>A COCA-CN 12 57107406 57107406 single base substitution G T missense_variant S97Y 290C>A COCA-CN 12 57107406 57107406 single base substitution G T missense_variant S99Y 296C>A COCA-CN 12 57107406 57107406 single base substitution G T upstream_gene_variant COCA-CN 12 57108219 57108219 single base substitution G A 3_prime_UTR_variant COCA-CN 12 57108219 57108219 single base substitution G A 5_prime_UTR_variant COCA-CN 12 57108219 57108219 single base substitution G A exon_variant COCA-CN 12 57108219 57108219 single base substitution G A intron_variant COCA-CN 12 57108219 57108219 single base substitution G A missense_variant A1917V 5750C>T COCA-CN 12 57108219 57108219 single base substitution G A missense_variant A50V 149C>T COCA-CN 12 57108219 57108219 single base substitution G A missense_variant A52V 155C>T COCA-CN 12 57108219 57108219 single base substitution G A missense_variant A54V 161C>T COCA-CN 12 57108219 57108219 single base substitution G A missense_variant A764V 2291C>T COCA-CN 12 57108219 57108219 single base substitution G A upstream_gene_variant COCA-CN 12 57109941 57109942 deletion of <=200bp AG - frameshift_variant S1791 COCA-CN 12 57109941 57109942 deletion of <=200bp AG - frameshift_variant S638 COCA-CN 12 57109941 57109942 deletion of <=200bp AG - intron_variant COCA-CN 12 57109941 57109942 deletion of <=200bp AG - upstream_gene_variant COCA-CN 12 57109992 57109992 single base substitution T G intron_variant COCA-CN 12 57109992 57109992 single base substitution T G splice_acceptor_variant COCA-CN 12 57109992 57109992 single base substitution T G synonymous_variant T1774T 5322A>C COCA-CN 12 57109992 57109992 single base substitution T G upstream_gene_variant COCA-CN 12 57112395 57112395 single base substitution T G intron_variant COCA-CN 12 57112395 57112395 single base substitution T G synonymous_variant P973P 2919A>C COCA-CN 12 57112395 57112395 single base substitution T G upstream_gene_variant COCA-CN 12 57113567 57113567 single base substitution G T downstream_gene_variant COCA-CN 12 57113567 57113567 single base substitution G T intron_variant COCA-CN 12 57113567 57113567 single base substitution G T missense_variant P583T 1747C>A COCA-CN 12 57113567 57113567 single base substitution G T upstream_gene_variant COCA-CN 12 57113632 57113632 single base substitution G A downstream_gene_variant COCA-CN 12 57113632 57113632 single base substitution G A intron_variant COCA-CN 12 57113632 57113632 single base substitution G A missense_variant P561L 1682C>T COCA-CN 12 57113632 57113632 single base substitution G A upstream_gene_variant COCA-CN 12 57114091 57114091 single base substitution G T downstream_gene_variant COCA-CN 12 57114091 57114091 single base substitution G T intron_variant COCA-CN 12 57114091 57114091 single base substitution G T missense_variant S408Y 1223C>A COCA-CN 12 57114091 57114091 single base substitution G T upstream_gene_variant COCA-CN 12 57114100 57114100 single base substitution A G downstream_gene_variant COCA-CN 12 57114100 57114100 single base substitution A G intron_variant COCA-CN 12 57114100 57114100 single base substitution A G missense_variant F405S 1214T>C COCA-CN 12 57114100 57114100 single base substitution A G upstream_gene_variant COCA-CN 12 57114161 57114161 single base substitution G A downstream_gene_variant COCA-CN 12 57114161 57114161 single base substitution G A intron_variant COCA-CN 12 57114161 57114161 single base substitution G A missense_variant P385S 1153C>T COCA-CN 12 57114161 57114161 single base substitution G A upstream_gene_variant COCA-CN 12 57118351 57118351 single base substitution C T intron_variant COCA-CN 12 57118351 57118351 single base substitution C T upstream_gene_variant COCA-CN 12 57123066 57123066 single base substitution C T intron_variant COCA-CN 12 57123066 57123066 single base substitution C T upstream_gene_variant COCA-CN 12 57125674 57125674 single base substitution C T upstream_gene_variant EOPC-DE 12 57120326 57120326 single base substitution A G 5_prime_UTR_variant EOPC-DE 12 57120326 57120326 single base substitution A G intron_variant EOPC-DE 12 57120326 57120326 single base substitution A G upstream_gene_variant ESAD-UK 12 57101567 57101567 single base substitution C T downstream_gene_variant ESAD-UK 12 57102415 57102415 single base substitution G A downstream_gene_variant ESAD-UK 12 57104973 57104973 single base substitution C T downstream_gene_variant ESAD-UK 12 57109616 57109616 single base substitution G A intron_variant ESAD-UK 12 57109616 57109616 single base substitution G A upstream_gene_variant ESAD-UK 12 57119731 57119731 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 57119731 57119731 single base substitution C A intron_variant ESAD-UK 12 57119731 57119731 single base substitution C A upstream_gene_variant ESAD-UK 12 57119910 57119910 single base substitution G A 5_prime_UTR_variant ESAD-UK 12 57119910 57119910 single base substitution G A intron_variant ESAD-UK 12 57119910 57119910 single base substitution G A upstream_gene_variant ESAD-UK 12 57120112 57120112 single base substitution G T 5_prime_UTR_variant ESAD-UK 12 57120112 57120112 single base substitution G T intron_variant ESAD-UK 12 57120112 57120112 single base substitution G T upstream_gene_variant ESAD-UK 12 57127467 57127467 single base substitution C T upstream_gene_variant ESAD-UK 12 57127995 57127995 single base substitution T C upstream_gene_variant ESAD-UK 12 57128745 57128745 single base substitution G A upstream_gene_variant ESCA-CN 12 57113592 57113592 single base substitution T C downstream_gene_variant ESCA-CN 12 57113592 57113592 single base substitution T C intron_variant ESCA-CN 12 57113592 57113592 single base substitution T C synonymous_variant Q574Q 1722A>G ESCA-CN 12 57113592 57113592 single base substitution T C upstream_gene_variant GBM-US 12 57108166 57108166 single base substitution T C 3_prime_UTR_variant GBM-US 12 57108166 57108166 single base substitution T C 5_prime_UTR_variant GBM-US 12 57108166 57108166 single base substitution T C exon_variant GBM-US 12 57108166 57108166 single base substitution T C intron_variant GBM-US 12 57108166 57108166 single base substitution T C missense_variant S1935G 5803A>G GBM-US 12 57108166 57108166 single base substitution T C missense_variant S68G 202A>G GBM-US 12 57108166 57108166 single base substitution T C missense_variant S70G 208A>G GBM-US 12 57108166 57108166 single base substitution T C missense_variant S72G 214A>G GBM-US 12 57108166 57108166 single base substitution T C missense_variant S782G 2344A>G GBM-US 12 57108166 57108166 single base substitution T C upstream_gene_variant KIRC-US 12 57110097 57110097 single base substitution G A intron_variant KIRC-US 12 57110097 57110097 single base substitution G A synonymous_variant L1739L 5217C>T KIRC-US 12 57110097 57110097 single base substitution G A upstream_gene_variant KIRC-US 12 57112266 57112266 single base substitution A G intron_variant KIRC-US 12 57112266 57112266 single base substitution A G synonymous_variant P1016P 3048T>C KIRC-US 12 57112266 57112266 single base substitution A G upstream_gene_variant KIRC-US 12 57114669 57114669 single base substitution G C downstream_gene_variant KIRC-US 12 57114669 57114669 single base substitution G C intron_variant KIRC-US 12 57114669 57114669 single base substitution G C missense_variant H215Q 645C>G KIRC-US 12 57114669 57114669 single base substitution G C upstream_gene_variant LAML-KR 12 57106185 57106185 single base substitution T G downstream_gene_variant LAML-KR 12 57111340 57111340 single base substitution C G intron_variant LAML-KR 12 57111340 57111340 single base substitution C G missense_variant G1325A 3974G>C LAML-KR 12 57111340 57111340 single base substitution C G upstream_gene_variant LAML-KR 12 57111516 57111516 single base substitution G A intron_variant LAML-KR 12 57111516 57111516 single base substitution G A synonymous_variant P1266P 3798C>T LAML-KR 12 57111516 57111516 single base substitution G A upstream_gene_variant LAML-KR 12 57111843 57111843 single base substitution A G intron_variant LAML-KR 12 57111843 57111843 single base substitution A G synonymous_variant P1157P 3471T>C LAML-KR 12 57111843 57111843 single base substitution A G upstream_gene_variant LAML-KR 12 57111895 57111895 single base substitution A G intron_variant LAML-KR 12 57111895 57111895 single base substitution A G missense_variant L1140P 3419T>C LAML-KR 12 57111895 57111895 single base substitution A G upstream_gene_variant LAML-KR 12 57111939 57111939 single base substitution T G intron_variant LAML-KR 12 57111939 57111939 single base substitution T G synonymous_variant A1125A 3375A>C LAML-KR 12 57111939 57111939 single base substitution T G upstream_gene_variant LAML-KR 12 57112102 57112102 single base substitution G A intron_variant LAML-KR 12 57112102 57112102 single base substitution G A missense_variant P1071L 3212C>T LAML-KR 12 57112102 57112102 single base substitution G A upstream_gene_variant LAML-KR 12 57112139 57112139 single base substitution T G intron_variant LAML-KR 12 57112139 57112139 single base substitution T G missense_variant T1059P 3175A>C LAML-KR 12 57112139 57112139 single base substitution T G upstream_gene_variant LAML-KR 12 57112422 57112422 single base substitution T G intron_variant LAML-KR 12 57112422 57112422 single base substitution T G synonymous_variant T964T 2892A>C LAML-KR 12 57112422 57112422 single base substitution T G upstream_gene_variant LAML-KR 12 57128187 57128187 single base substitution G A upstream_gene_variant LICA-FR 12 57108413 57108413 single base substitution G A 3_prime_UTR_variant LICA-FR 12 57108413 57108413 single base substitution G A 5_prime_UTR_variant LICA-FR 12 57108413 57108413 single base substitution G A exon_variant LICA-FR 12 57108413 57108413 single base substitution G A splice_region_variant LICA-FR 12 57108413 57108413 single base substitution G A synonymous_variant S1906S 5718C>T LICA-FR 12 57108413 57108413 single base substitution G A synonymous_variant S39S 117C>T LICA-FR 12 57108413 57108413 single base substitution G A synonymous_variant S41S 123C>T LICA-FR 12 57108413 57108413 single base substitution G A synonymous_variant S43S 129C>T LICA-FR 12 57108413 57108413 single base substitution G A synonymous_variant S753S 2259C>T LICA-FR 12 57108413 57108413 single base substitution G A upstream_gene_variant LICA-FR 12 57111249 57111249 single base substitution G T intron_variant LICA-FR 12 57111249 57111249 single base substitution G T synonymous_variant S1355S 4065C>A LICA-FR 12 57111249 57111249 single base substitution G T upstream_gene_variant LICA-FR 12 57113333 57113333 single base substitution T A downstream_gene_variant LICA-FR 12 57113333 57113333 single base substitution T A intron_variant LICA-FR 12 57113333 57113333 single base substitution T A missense_variant T18S 52A>T LICA-FR 12 57113333 57113333 single base substitution T A missense_variant T618S 1852A>T LICA-FR 12 57113333 57113333 single base substitution T A missense_variant T661S 1981A>T LICA-FR 12 57113333 57113333 single base substitution T A upstream_gene_variant LIHC-US 12 57113603 57113603 single base substitution G T downstream_gene_variant LIHC-US 12 57113603 57113603 single base substitution G T intron_variant LIHC-US 12 57113603 57113603 single base substitution G T missense_variant P571T 1711C>A LIHC-US 12 57113603 57113603 single base substitution G T upstream_gene_variant LIHC-US 12 57114439 57114439 single base substitution G T downstream_gene_variant LIHC-US 12 57114439 57114439 single base substitution G T intron_variant LIHC-US 12 57114439 57114439 single base substitution G T missense_variant T292N 875C>A LIHC-US 12 57114439 57114439 single base substitution G T upstream_gene_variant LINC-JP 12 57106169 57106169 single base substitution T C downstream_gene_variant LINC-JP 12 57106731 57106731 single base substitution A G downstream_gene_variant LINC-JP 12 57106731 57106731 single base substitution A G intron_variant LINC-JP 12 57108452 57108452 single base substitution G A 3_prime_UTR_variant LINC-JP 12 57108452 57108452 single base substitution G A 5_prime_UTR_variant LINC-JP 12 57108452 57108452 single base substitution G A exon_variant LINC-JP 12 57108452 57108452 single base substitution G A synonymous_variant D1893D 5679C>T LINC-JP 12 57108452 57108452 single base substitution G A synonymous_variant D26D 78C>T LINC-JP 12 57108452 57108452 single base substitution G A synonymous_variant D28D 84C>T LINC-JP 12 57108452 57108452 single base substitution G A synonymous_variant D30D 90C>T LINC-JP 12 57108452 57108452 single base substitution G A synonymous_variant D740D 2220C>T LINC-JP 12 57108452 57108452 single base substitution G A upstream_gene_variant LINC-JP 12 57109466 57109466 single base substitution T A intron_variant LINC-JP 12 57109466 57109466 single base substitution T A upstream_gene_variant LINC-JP 12 57111894 57111894 single base substitution T C intron_variant LINC-JP 12 57111894 57111894 single base substitution T C synonymous_variant L1140L 3420A>G LINC-JP 12 57111894 57111894 single base substitution T C upstream_gene_variant LINC-JP 12 57111939 57111939 single base substitution T G intron_variant LINC-JP 12 57111939 57111939 single base substitution T G synonymous_variant A1125A 3375A>C LINC-JP 12 57111939 57111939 single base substitution T G upstream_gene_variant LINC-JP 12 57111948 57111948 single base substitution G T intron_variant LINC-JP 12 57111948 57111948 single base substitution G T missense_variant H1122Q 3366C>A LINC-JP 12 57111948 57111948 single base substitution G T upstream_gene_variant LINC-JP 12 57111949 57111949 single base substitution T G intron_variant LINC-JP 12 57111949 57111949 single base substitution T G missense_variant H1122P 3365A>C LINC-JP 12 57111949 57111949 single base substitution T G upstream_gene_variant LINC-JP 12 57113513 57113513 single base substitution T C downstream_gene_variant LINC-JP 12 57113513 57113513 single base substitution T C intron_variant LINC-JP 12 57113513 57113513 single base substitution T C missense_variant I601V 1801A>G LINC-JP 12 57113513 57113513 single base substitution T C upstream_gene_variant LINC-JP 12 57114796 57114796 single base substitution A C downstream_gene_variant LINC-JP 12 57114796 57114796 single base substitution A C intron_variant LINC-JP 12 57114796 57114796 single base substitution A C missense_variant I173R 518T>G LINC-JP 12 57114796 57114796 single base substitution A C upstream_gene_variant LINC-JP 12 57115117 57115117 single base substitution G C downstream_gene_variant LINC-JP 12 57115117 57115117 single base substitution G C intron_variant LINC-JP 12 57115117 57115117 single base substitution G C missense_variant P66R 197C>G LINC-JP 12 57115117 57115117 single base substitution G C upstream_gene_variant LINC-JP 12 57115313 57115313 single base substitution A G downstream_gene_variant LINC-JP 12 57115313 57115313 single base substitution A G intron_variant LINC-JP 12 57115313 57115313 single base substitution A G upstream_gene_variant LIRI-JP 12 57101492 57101492 single base substitution A C downstream_gene_variant LIRI-JP 12 57102498 57102498 single base substitution T G downstream_gene_variant LIRI-JP 12 57105180 57105180 single base substitution A G downstream_gene_variant LIRI-JP 12 57105202 57105202 single base substitution A C downstream_gene_variant LIRI-JP 12 57105422 57105422 single base substitution A C downstream_gene_variant LIRI-JP 12 57107824 57107824 single base substitution T C downstream_gene_variant LIRI-JP 12 57107824 57107824 single base substitution T C exon_variant LIRI-JP 12 57107824 57107824 single base substitution T C intron_variant LIRI-JP 12 57107824 57107824 single base substitution T C upstream_gene_variant LIRI-JP 12 57109152 57109152 single base substitution T C intron_variant LIRI-JP 12 57109152 57109152 single base substitution T C upstream_gene_variant LIRI-JP 12 57112935 57112935 single base substitution G A intron_variant LIRI-JP 12 57112935 57112935 single base substitution G A synonymous_variant S793S 2379C>T LIRI-JP 12 57112935 57112935 single base substitution G A upstream_gene_variant LIRI-JP 12 57112969 57112969 single base substitution G A intron_variant LIRI-JP 12 57112969 57112969 single base substitution G A missense_variant S782F 2345C>T LIRI-JP 12 57112969 57112969 single base substitution G A upstream_gene_variant LIRI-JP 12 57114704 57114704 single base substitution T C downstream_gene_variant LIRI-JP 12 57114704 57114704 single base substitution T C intron_variant LIRI-JP 12 57114704 57114704 single base substitution T C missense_variant S204G 610A>G LIRI-JP 12 57114704 57114704 single base substitution T C upstream_gene_variant LIRI-JP 12 57114899 57114899 single base substitution G C downstream_gene_variant LIRI-JP 12 57114899 57114899 single base substitution G C intron_variant LIRI-JP 12 57114899 57114899 single base substitution G C missense_variant L139V 415C>G LIRI-JP 12 57114899 57114899 single base substitution G C upstream_gene_variant LIRI-JP 12 57115097 57115097 single base substitution T C downstream_gene_variant LIRI-JP 12 57115097 57115097 single base substitution T C intron_variant LIRI-JP 12 57115097 57115097 single base substitution T C missense_variant I73V 217A>G LIRI-JP 12 57115097 57115097 single base substitution T C upstream_gene_variant LIRI-JP 12 57115924 57115924 single base substitution G C downstream_gene_variant LIRI-JP 12 57115924 57115924 single base substitution G C intron_variant LIRI-JP 12 57115924 57115924 single base substitution G C upstream_gene_variant LIRI-JP 12 57116489 57116489 single base substitution C A downstream_gene_variant LIRI-JP 12 57116489 57116489 single base substitution C A intron_variant LIRI-JP 12 57116489 57116489 single base substitution C A upstream_gene_variant LIRI-JP 12 57117494 57117494 single base substitution A T downstream_gene_variant LIRI-JP 12 57117494 57117494 single base substitution A T intron_variant LIRI-JP 12 57117494 57117494 single base substitution A T upstream_gene_variant LIRI-JP 12 57119402 57119402 single base substitution A T 5_prime_UTR_variant LIRI-JP 12 57119402 57119402 single base substitution A T intron_variant LIRI-JP 12 57119402 57119402 single base substitution A T upstream_gene_variant LIRI-JP 12 57119403 57119403 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 12 57119403 57119403 single base substitution T G intron_variant LIRI-JP 12 57119403 57119403 single base substitution T G upstream_gene_variant LIRI-JP 12 57124754 57124754 single base substitution T G intron_variant LIRI-JP 12 57124754 57124754 single base substitution T G upstream_gene_variant LUSC-KR 12 57103692 57103692 single base substitution C T downstream_gene_variant LUSC-KR 12 57103953 57103953 single base substitution G T downstream_gene_variant LUSC-KR 12 57104371 57104371 single base substitution G T downstream_gene_variant LUSC-KR 12 57106660 57106660 single base substitution A T 3_prime_UTR_variant LUSC-KR 12 57106660 57106660 single base substitution A T downstream_gene_variant LUSC-KR 12 57106660 57106660 single base substitution A T exon_variant LUSC-KR 12 57106660 57106660 single base substitution A T synonymous_variant I102I 306T>A LUSC-KR 12 57106660 57106660 single base substitution A T synonymous_variant I179I 537T>A LUSC-KR 12 57106660 57106660 single base substitution A T synonymous_variant I181I 543T>A LUSC-KR 12 57106660 57106660 single base substitution A T synonymous_variant I2044I 6132T>A LUSC-KR 12 57106660 57106660 single base substitution A T synonymous_variant I891I 2673T>A LUSC-KR 12 57106810 57106810 single base substitution G A downstream_gene_variant LUSC-KR 12 57106810 57106810 single base substitution G A intron_variant LUSC-KR 12 57108203 57108203 single base substitution A G 3_prime_UTR_variant LUSC-KR 12 57108203 57108203 single base substitution A G 5_prime_UTR_variant LUSC-KR 12 57108203 57108203 single base substitution A G exon_variant LUSC-KR 12 57108203 57108203 single base substitution A G intron_variant LUSC-KR 12 57108203 57108203 single base substitution A G synonymous_variant I1922I 5766T>C LUSC-KR 12 57108203 57108203 single base substitution A G synonymous_variant I55I 165T>C LUSC-KR 12 57108203 57108203 single base substitution A G synonymous_variant I57I 171T>C LUSC-KR 12 57108203 57108203 single base substitution A G synonymous_variant I59I 177T>C LUSC-KR 12 57108203 57108203 single base substitution A G synonymous_variant I769I 2307T>C LUSC-KR 12 57108203 57108203 single base substitution A G upstream_gene_variant LUSC-KR 12 57109792 57109792 single base substitution A G intron_variant LUSC-KR 12 57109792 57109792 single base substitution A G missense_variant L1841P 5522T>C LUSC-KR 12 57109792 57109792 single base substitution A G missense_variant L688P 2063T>C LUSC-KR 12 57109792 57109792 single base substitution A G upstream_gene_variant LUSC-KR 12 57109931 57109931 single base substitution A T intron_variant LUSC-KR 12 57109931 57109931 single base substitution A T missense_variant S1795T 5383T>A LUSC-KR 12 57109931 57109931 single base substitution A T missense_variant S642T 1924T>A LUSC-KR 12 57109931 57109931 single base substitution A T upstream_gene_variant LUSC-KR 12 57111725 57111725 single base substitution T G intron_variant LUSC-KR 12 57111725 57111725 single base substitution T G missense_variant T1197P 3589A>C LUSC-KR 12 57111725 57111725 single base substitution T G upstream_gene_variant LUSC-KR 12 57111912 57111912 single base substitution G A intron_variant LUSC-KR 12 57111912 57111912 single base substitution G A synonymous_variant P1134P 3402C>T LUSC-KR 12 57111912 57111912 single base substitution G A upstream_gene_variant LUSC-KR 12 57111913 57111913 single base substitution G A intron_variant LUSC-KR 12 57111913 57111913 single base substitution G A missense_variant P1134L 3401C>T LUSC-KR 12 57111913 57111913 single base substitution G A upstream_gene_variant LUSC-KR 12 57111939 57111939 single base substitution T G intron_variant LUSC-KR 12 57111939 57111939 single base substitution T G synonymous_variant A1125A 3375A>C LUSC-KR 12 57111939 57111939 single base substitution T G upstream_gene_variant LUSC-KR 12 57111982 57111982 single base substitution G A intron_variant LUSC-KR 12 57111982 57111982 single base substitution G A missense_variant P1111L 3332C>T LUSC-KR 12 57111982 57111982 single base substitution G A upstream_gene_variant LUSC-KR 12 57112123 57112123 single base substitution A G intron_variant LUSC-KR 12 57112123 57112123 single base substitution A G missense_variant L1064P 3191T>C LUSC-KR 12 57112123 57112123 single base substitution A G upstream_gene_variant LUSC-KR 12 57112437 57112437 single base substitution C G intron_variant LUSC-KR 12 57112437 57112437 single base substitution C G synonymous_variant P959P 2877G>C LUSC-KR 12 57112437 57112437 single base substitution C G upstream_gene_variant LUSC-KR 12 57112637 57112637 single base substitution G A intron_variant LUSC-KR 12 57112637 57112637 single base substitution G A synonymous_variant L893L 2677C>T LUSC-KR 12 57112637 57112637 single base substitution G A upstream_gene_variant LUSC-KR 12 57114100 57114100 single base substitution A G downstream_gene_variant LUSC-KR 12 57114100 57114100 single base substitution A G intron_variant LUSC-KR 12 57114100 57114100 single base substitution A G missense_variant F405S 1214T>C LUSC-KR 12 57114100 57114100 single base substitution A G upstream_gene_variant LUSC-KR 12 57114307 57114307 single base substitution A T downstream_gene_variant LUSC-KR 12 57114307 57114307 single base substitution A T intron_variant LUSC-KR 12 57114307 57114307 single base substitution A T missense_variant V336E 1007T>A LUSC-KR 12 57114307 57114307 single base substitution A T upstream_gene_variant LUSC-KR 12 57116803 57116803 single base substitution G T downstream_gene_variant LUSC-KR 12 57116803 57116803 single base substitution G T intron_variant LUSC-KR 12 57116803 57116803 single base substitution G T upstream_gene_variant LUSC-KR 12 57118167 57118167 single base substitution G A downstream_gene_variant LUSC-KR 12 57118167 57118167 single base substitution G A intron_variant LUSC-KR 12 57118167 57118167 single base substitution G A upstream_gene_variant LUSC-KR 12 57119236 57119236 single base substitution G A 5_prime_UTR_variant LUSC-KR 12 57119236 57119236 single base substitution G A splice_region_variant LUSC-KR 12 57119236 57119236 single base substitution G A upstream_gene_variant LUSC-KR 12 57121065 57121065 single base substitution T G intron_variant LUSC-KR 12 57121065 57121065 single base substitution T G upstream_gene_variant LUSC-US 12 57127988 57127988 single base substitution C G upstream_gene_variant MALY-DE 12 57101654 57101654 single base substitution C T downstream_gene_variant MALY-DE 12 57122613 57122613 single base substitution G A intron_variant MALY-DE 12 57122613 57122613 single base substitution G A upstream_gene_variant MELA-AU 12 57101776 57101776 single base substitution C T downstream_gene_variant MELA-AU 12 57101979 57101979 single base substitution G A downstream_gene_variant MELA-AU 12 57102072 57102072 single base substitution G A downstream_gene_variant MELA-AU 12 57103112 57103112 single base substitution G A downstream_gene_variant MELA-AU 12 57103331 57103331 single base substitution G A downstream_gene_variant MELA-AU 12 57104661 57104661 single base substitution T C downstream_gene_variant MELA-AU 12 57105324 57105324 single base substitution G A downstream_gene_variant MELA-AU 12 57105926 57105926 single base substitution G A downstream_gene_variant MELA-AU 12 57106031 57106031 deletion of <=200bp C - downstream_gene_variant MELA-AU 12 57106146 57106146 single base substitution G A downstream_gene_variant MELA-AU 12 57106337 57106337 single base substitution C T downstream_gene_variant MELA-AU 12 57106337 57106337 single base substitution C T exon_variant MELA-AU 12 57106337 57106337 single base substitution C T splice_acceptor_variant MELA-AU 12 57106447 57106447 single base substitution G A downstream_gene_variant MELA-AU 12 57106447 57106447 single base substitution G A exon_variant MELA-AU 12 57106447 57106447 single base substitution G A intron_variant MELA-AU 12 57106877 57106877 single base substitution G A 3_prime_UTR_variant MELA-AU 12 57106877 57106877 single base substitution G A downstream_gene_variant MELA-AU 12 57106877 57106877 single base substitution G A exon_variant MELA-AU 12 57106877 57106877 single base substitution G A missense_variant P158L 473C>T MELA-AU 12 57106877 57106877 single base substitution G A missense_variant P160L 479C>T MELA-AU 12 57106877 57106877 single base substitution G A missense_variant P2023L 6068C>T MELA-AU 12 57106877 57106877 single base substitution G A missense_variant P81L 242C>T MELA-AU 12 57106877 57106877 single base substitution G A missense_variant P870L 2609C>T MELA-AU 12 57107113 57107113 single base substitution G A downstream_gene_variant MELA-AU 12 57107113 57107113 single base substitution G A exon_variant MELA-AU 12 57107113 57107113 single base substitution G A intron_variant MELA-AU 12 57107599 57107599 single base substitution G A downstream_gene_variant MELA-AU 12 57107599 57107599 single base substitution G A intron_variant MELA-AU 12 57107599 57107599 single base substitution G A upstream_gene_variant MELA-AU 12 57108389 57108389 single base substitution G A 3_prime_UTR_variant MELA-AU 12 57108389 57108389 single base substitution G A 5_prime_UTR_variant MELA-AU 12 57108389 57108389 single base substitution G A exon_variant MELA-AU 12 57108389 57108389 single base substitution G A intron_variant MELA-AU 12 57108389 57108389 single base substitution G A synonymous_variant A1914A 5742C>T MELA-AU 12 57108389 57108389 single base substitution G A synonymous_variant A47A 141C>T MELA-AU 12 57108389 57108389 single base substitution G A synonymous_variant A49A 147C>T MELA-AU 12 57108389 57108389 single base substitution G A synonymous_variant A51A 153C>T MELA-AU 12 57108389 57108389 single base substitution G A synonymous_variant A761A 2283C>T MELA-AU 12 57108389 57108389 single base substitution G A upstream_gene_variant MELA-AU 12 57108693 57108693 single base substitution G A intron_variant MELA-AU 12 57108693 57108693 single base substitution G A upstream_gene_variant MELA-AU 12 57109080 57109080 single base substitution A C intron_variant MELA-AU 12 57109080 57109080 single base substitution A C upstream_gene_variant MELA-AU 12 57109319 57109319 single base substitution G A intron_variant MELA-AU 12 57109319 57109319 single base substitution G A upstream_gene_variant MELA-AU 12 57109467 57109467 single base substitution G A intron_variant MELA-AU 12 57109467 57109467 single base substitution G A upstream_gene_variant MELA-AU 12 57109605 57109605 single base substitution G A intron_variant MELA-AU 12 57109605 57109605 single base substitution G A upstream_gene_variant MELA-AU 12 57110364 57110364 single base substitution G A intron_variant MELA-AU 12 57110364 57110364 single base substitution G A synonymous_variant S1650S 4950C>T MELA-AU 12 57110364 57110364 single base substitution G A upstream_gene_variant MELA-AU 12 57111126 57111126 insertion of <=200bp - T frameshift_variant P1396P? MELA-AU 12 57111126 57111126 insertion of <=200bp - T intron_variant MELA-AU 12 57111126 57111126 insertion of <=200bp - T upstream_gene_variant MELA-AU 12 57111288 57111288 single base substitution G A intron_variant MELA-AU 12 57111288 57111288 single base substitution G A synonymous_variant S1342S 4026C>T MELA-AU 12 57111288 57111288 single base substitution G A upstream_gene_variant MELA-AU 12 57111308 57111308 single base substitution G A intron_variant MELA-AU 12 57111308 57111308 single base substitution G A missense_variant P1336S 4006C>T MELA-AU 12 57111308 57111308 single base substitution G A upstream_gene_variant MELA-AU 12 57111605 57111605 single base substitution G A intron_variant MELA-AU 12 57111605 57111605 single base substitution G A missense_variant P1237S 3709C>T MELA-AU 12 57111605 57111605 single base substitution G A upstream_gene_variant MELA-AU 12 57111997 57111997 single base substitution G A intron_variant MELA-AU 12 57111997 57111997 single base substitution G A missense_variant P1106L 3317C>T MELA-AU 12 57111997 57111997 single base substitution G A upstream_gene_variant MELA-AU 12 57112135 57112135 single base substitution G A intron_variant MELA-AU 12 57112135 57112135 single base substitution G A missense_variant P1060L 3179C>T MELA-AU 12 57112135 57112135 single base substitution G A upstream_gene_variant MELA-AU 12 57112157 57112157 single base substitution G A intron_variant MELA-AU 12 57112157 57112157 single base substitution G A missense_variant P1053S 3157C>T MELA-AU 12 57112157 57112157 single base substitution G A upstream_gene_variant MELA-AU 12 57112158 57112158 single base substitution G A intron_variant MELA-AU 12 57112158 57112158 single base substitution G A synonymous_variant L1052L 3156C>T MELA-AU 12 57112158 57112158 single base substitution G A upstream_gene_variant MELA-AU 12 57112228 57112228 single base substitution G A intron_variant MELA-AU 12 57112228 57112228 single base substitution G A missense_variant P1029L 3086C>T MELA-AU 12 57112228 57112228 single base substitution G A upstream_gene_variant MELA-AU 12 57112329 57112329 single base substitution G A intron_variant MELA-AU 12 57112329 57112329 single base substitution G A synonymous_variant S995S 2985C>T MELA-AU 12 57112329 57112329 single base substitution G A upstream_gene_variant MELA-AU 12 57112560 57112560 single base substitution G A intron_variant MELA-AU 12 57112560 57112560 single base substitution G A synonymous_variant P918P 2754C>T MELA-AU 12 57112560 57112560 single base substitution G A upstream_gene_variant MELA-AU 12 57114120 57114120 single base substitution G A downstream_gene_variant MELA-AU 12 57114120 57114120 single base substitution G A intron_variant MELA-AU 12 57114120 57114120 single base substitution G A synonymous_variant S398S 1194C>T MELA-AU 12 57114120 57114120 single base substitution G A upstream_gene_variant MELA-AU 12 57114482 57114482 single base substitution G A downstream_gene_variant MELA-AU 12 57114482 57114482 single base substitution G A intron_variant MELA-AU 12 57114482 57114482 single base substitution G A missense_variant L278F 832C>T MELA-AU 12 57114482 57114482 single base substitution G A upstream_gene_variant MELA-AU 12 57114908 57114908 single base substitution G A downstream_gene_variant MELA-AU 12 57114908 57114908 single base substitution G A intron_variant MELA-AU 12 57114908 57114908 single base substitution G A missense_variant P136S 406C>T MELA-AU 12 57114908 57114908 single base substitution G A upstream_gene_variant MELA-AU 12 57115007 57115007 single base substitution G A downstream_gene_variant MELA-AU 12 57115007 57115007 single base substitution G A intron_variant MELA-AU 12 57115007 57115007 single base substitution G A synonymous_variant L103L 307C>T MELA-AU 12 57115007 57115007 single base substitution G A upstream_gene_variant MELA-AU 12 57115012 57115012 single base substitution G A downstream_gene_variant MELA-AU 12 57115012 57115012 single base substitution G A intron_variant MELA-AU 12 57115012 57115012 single base substitution G A missense_variant T101I 302C>T MELA-AU 12 57115012 57115012 single base substitution G A upstream_gene_variant MELA-AU 12 57115072 57115072 single base substitution G A downstream_gene_variant MELA-AU 12 57115072 57115072 single base substitution G A intron_variant MELA-AU 12 57115072 57115072 single base substitution G A missense_variant P81L 242C>T MELA-AU 12 57115072 57115072 single base substitution G A upstream_gene_variant MELA-AU 12 57116758 57116758 single base substitution C T downstream_gene_variant MELA-AU 12 57116758 57116758 single base substitution C T intron_variant MELA-AU 12 57116758 57116758 single base substitution C T upstream_gene_variant MELA-AU 12 57116810 57116811 deletion of <=200bp AA - downstream_gene_variant MELA-AU 12 57116810 57116811 deletion of <=200bp AA - intron_variant MELA-AU 12 57116810 57116811 deletion of <=200bp AA - upstream_gene_variant MELA-AU 12 57117232 57117232 single base substitution G A downstream_gene_variant MELA-AU 12 57117232 57117232 single base substitution G A intron_variant MELA-AU 12 57117232 57117232 single base substitution G A upstream_gene_variant MELA-AU 12 57117260 57117261 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 57117260 57117261 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 57117260 57117261 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 57118161 57118161 single base substitution C T downstream_gene_variant MELA-AU 12 57118161 57118161 single base substitution C T intron_variant MELA-AU 12 57118161 57118161 single base substitution C T upstream_gene_variant MELA-AU 12 57118956 57118956 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 57118956 57118956 single base substitution A T intron_variant MELA-AU 12 57118956 57118956 single base substitution A T upstream_gene_variant MELA-AU 12 57118998 57118998 single base substitution G A 5_prime_UTR_variant MELA-AU 12 57118998 57118998 single base substitution G A intron_variant MELA-AU 12 57118998 57118998 single base substitution G A upstream_gene_variant MELA-AU 12 57119117 57119117 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 57119117 57119117 single base substitution A C upstream_gene_variant MELA-AU 12 57119120 57119120 single base substitution G A 5_prime_UTR_variant MELA-AU 12 57119120 57119120 single base substitution G A upstream_gene_variant MELA-AU 12 57119272 57119272 single base substitution C T 5_prime_UTR_variant MELA-AU 12 57119272 57119272 single base substitution C T intron_variant MELA-AU 12 57119272 57119272 single base substitution C T upstream_gene_variant MELA-AU 12 57121055 57121055 single base substitution G A intron_variant MELA-AU 12 57121055 57121055 single base substitution G A upstream_gene_variant MELA-AU 12 57121380 57121380 single base substitution G A intron_variant MELA-AU 12 57121380 57121380 single base substitution G A upstream_gene_variant MELA-AU 12 57121921 57121921 single base substitution T A intron_variant MELA-AU 12 57121921 57121921 single base substitution T A upstream_gene_variant MELA-AU 12 57122749 57122749 single base substitution C T intron_variant MELA-AU 12 57122749 57122749 single base substitution C T upstream_gene_variant MELA-AU 12 57122941 57122941 single base substitution G A intron_variant MELA-AU 12 57122941 57122941 single base substitution G A upstream_gene_variant MELA-AU 12 57123484 57123484 single base substitution G A intron_variant MELA-AU 12 57123484 57123484 single base substitution G A upstream_gene_variant MELA-AU 12 57123530 57123530 single base substitution G A intron_variant MELA-AU 12 57123530 57123530 single base substitution G A upstream_gene_variant MELA-AU 12 57123546 57123546 single base substitution G A intron_variant MELA-AU 12 57123546 57123546 single base substitution G A upstream_gene_variant MELA-AU 12 57123549 57123549 single base substitution G A intron_variant MELA-AU 12 57123549 57123549 single base substitution G A upstream_gene_variant MELA-AU 12 57124417 57124417 single base substitution C A intron_variant MELA-AU 12 57124417 57124417 single base substitution C A upstream_gene_variant MELA-AU 12 57125136 57125136 single base substitution G A intron_variant MELA-AU 12 57125136 57125136 single base substitution G A upstream_gene_variant MELA-AU 12 57125542 57125542 single base substitution G A upstream_gene_variant MELA-AU 12 57125804 57125804 single base substitution A G upstream_gene_variant MELA-AU 12 57126597 57126597 single base substitution C T upstream_gene_variant MELA-AU 12 57126861 57126861 single base substitution A G upstream_gene_variant MELA-AU 12 57126864 57126865 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 57127907 57127907 single base substitution G A upstream_gene_variant MELA-AU 12 57129945 57129945 single base substitution C T upstream_gene_variant MELA-AU 12 57130168 57130168 single base substitution G A upstream_gene_variant ORCA-IN 12 57109997 57109997 single base substitution G C intron_variant ORCA-IN 12 57109997 57109997 single base substitution G C missense_variant L1773V 5317C>G ORCA-IN 12 57109997 57109997 single base substitution G C splice_region_variant ORCA-IN 12 57109997 57109997 single base substitution G C upstream_gene_variant ORCA-IN 12 57129073 57129073 single base substitution G A upstream_gene_variant OV-AU 12 57128089 57128089 single base substitution C A upstream_gene_variant OV-US 12 57106972 57106972 single base substitution G C downstream_gene_variant OV-US 12 57106972 57106972 single base substitution G C exon_variant OV-US 12 57106972 57106972 single base substitution G C missense_variant I124M 372C>G OV-US 12 57106972 57106972 single base substitution G C missense_variant I126M 378C>G OV-US 12 57106972 57106972 single base substitution G C missense_variant I128M 384C>G OV-US 12 57106972 57106972 single base substitution G C missense_variant I1991M 5973C>G OV-US 12 57106972 57106972 single base substitution G C missense_variant I49M 147C>G OV-US 12 57106972 57106972 single base substitution G C missense_variant I838M 2514C>G OV-US 12 57106972 57106972 single base substitution G C splice_region_variant PACA-AU 12 57103937 57103937 single base substitution G A downstream_gene_variant PACA-AU 12 57105319 57105319 single base substitution C G downstream_gene_variant PACA-AU 12 57106178 57106178 deletion of <=200bp G - downstream_gene_variant PACA-AU 12 57108942 57108942 deletion of <=200bp G - intron_variant PACA-AU 12 57108942 57108942 deletion of <=200bp G - upstream_gene_variant PACA-AU 12 57114290 57114290 single base substitution C G downstream_gene_variant PACA-AU 12 57114290 57114290 single base substitution C G intron_variant PACA-AU 12 57114290 57114290 single base substitution C G missense_variant D342H 1024G>C PACA-AU 12 57114290 57114290 single base substitution C G upstream_gene_variant PACA-AU 12 57123933 57123936 deletion of <=200bp AAGG - intron_variant PACA-AU 12 57123933 57123936 deletion of <=200bp AAGG - upstream_gene_variant PACA-AU 12 57127100 57127100 single base substitution C T upstream_gene_variant PACA-CA 12 57103341 57103341 single base substitution G T downstream_gene_variant PACA-CA 12 57107412 57107412 single base substitution C T downstream_gene_variant PACA-CA 12 57107412 57107412 single base substitution C T exon_variant PACA-CA 12 57107412 57107412 single base substitution C T intron_variant PACA-CA 12 57107412 57107412 single base substitution C T missense_variant R18Q 53G>A PACA-CA 12 57107412 57107412 single base substitution C T missense_variant R1960Q 5879G>A PACA-CA 12 57107412 57107412 single base substitution C T missense_variant R807Q 2420G>A PACA-CA 12 57107412 57107412 single base substitution C T missense_variant R93Q 278G>A PACA-CA 12 57107412 57107412 single base substitution C T missense_variant R95Q 284G>A PACA-CA 12 57107412 57107412 single base substitution C T missense_variant R97Q 290G>A PACA-CA 12 57107412 57107412 single base substitution C T upstream_gene_variant PACA-CA 12 57108424 57108424 single base substitution C G 3_prime_UTR_variant PACA-CA 12 57108424 57108424 single base substitution C G 5_prime_UTR_variant PACA-CA 12 57108424 57108424 single base substitution C G exon_variant PACA-CA 12 57108424 57108424 single base substitution C G missense_variant E1903Q 5707G>C PACA-CA 12 57108424 57108424 single base substitution C G missense_variant E36Q 106G>C PACA-CA 12 57108424 57108424 single base substitution C G missense_variant E38Q 112G>C PACA-CA 12 57108424 57108424 single base substitution C G missense_variant E40Q 118G>C PACA-CA 12 57108424 57108424 single base substitution C G missense_variant E750Q 2248G>C PACA-CA 12 57108424 57108424 single base substitution C G upstream_gene_variant PACA-CA 12 57111608 57111608 single base substitution A G intron_variant PACA-CA 12 57111608 57111608 single base substitution A G missense_variant S1236P 3706T>C PACA-CA 12 57111608 57111608 single base substitution A G upstream_gene_variant PACA-CA 12 57111618 57111618 single base substitution C T intron_variant PACA-CA 12 57111618 57111618 single base substitution C T synonymous_variant L1232L 3696G>A PACA-CA 12 57111618 57111618 single base substitution C T upstream_gene_variant PACA-CA 12 57111949 57111949 single base substitution T G intron_variant PACA-CA 12 57111949 57111949 single base substitution T G missense_variant H1122P 3365A>C PACA-CA 12 57111949 57111949 single base substitution T G upstream_gene_variant PACA-CA 12 57112003 57112003 single base substitution A G intron_variant PACA-CA 12 57112003 57112003 single base substitution A G missense_variant M1104T 3311T>C PACA-CA 12 57112003 57112003 single base substitution A G upstream_gene_variant PACA-CA 12 57112123 57112123 single base substitution A G intron_variant PACA-CA 12 57112123 57112123 single base substitution A G missense_variant L1064P 3191T>C PACA-CA 12 57112123 57112123 single base substitution A G upstream_gene_variant PACA-CA 12 57114417 57114417 insertion of <=200bp - G downstream_gene_variant PACA-CA 12 57114417 57114417 insertion of <=200bp - G frameshift_variant P299P? PACA-CA 12 57114417 57114417 insertion of <=200bp - G intron_variant PACA-CA 12 57114417 57114417 insertion of <=200bp - G upstream_gene_variant PACA-CA 12 57115844 57115852 deletion of <=200bp GTTAGAATA - downstream_gene_variant PACA-CA 12 57115844 57115852 deletion of <=200bp GTTAGAATA - intron_variant PACA-CA 12 57115844 57115852 deletion of <=200bp GTTAGAATA - upstream_gene_variant PACA-CA 12 57118005 57118005 single base substitution A G downstream_gene_variant PACA-CA 12 57118005 57118005 single base substitution A G intron_variant PACA-CA 12 57118005 57118005 single base substitution A G upstream_gene_variant PACA-CA 12 57119520 57119520 deletion of <=200bp C - 5_prime_UTR_variant PACA-CA 12 57119520 57119520 deletion of <=200bp C - intron_variant PACA-CA 12 57119520 57119520 deletion of <=200bp C - upstream_gene_variant PACA-CA 12 57120779 57120779 single base substitution A G 5_prime_UTR_variant PACA-CA 12 57120779 57120779 single base substitution A G intron_variant PACA-CA 12 57120779 57120779 single base substitution A G upstream_gene_variant PACA-CA 12 57121011 57121011 single base substitution C G intron_variant PACA-CA 12 57121011 57121011 single base substitution C G upstream_gene_variant PACA-CA 12 57124532 57124532 single base substitution G A intron_variant PACA-CA 12 57124532 57124532 single base substitution G A upstream_gene_variant PACA-CA 12 57125093 57125093 single base substitution G A intron_variant PACA-CA 12 57125093 57125093 single base substitution G A upstream_gene_variant PACA-CA 12 57125669 57125669 single base substitution C A upstream_gene_variant PACA-CA 12 57128030 57128030 single base substitution C G upstream_gene_variant PACA-CA 12 57129050 57129050 insertion of <=200bp - T upstream_gene_variant PAEN-AU 12 57111656 57111656 single base substitution T G intron_variant PAEN-AU 12 57111656 57111656 single base substitution T G missense_variant T1220P 3658A>C PAEN-AU 12 57111656 57111656 single base substitution T G upstream_gene_variant PAEN-IT 12 57126527 57126527 single base substitution G T upstream_gene_variant PBCA-DE 12 57101530 57101530 single base substitution C T downstream_gene_variant PBCA-DE 12 57102353 57102353 deletion of <=200bp A - downstream_gene_variant PBCA-DE 12 57102944 57102944 single base substitution G A downstream_gene_variant PBCA-DE 12 57107842 57107842 single base substitution G A downstream_gene_variant PBCA-DE 12 57107842 57107842 single base substitution G A exon_variant PBCA-DE 12 57107842 57107842 single base substitution G A intron_variant PBCA-DE 12 57107842 57107842 single base substitution G A upstream_gene_variant PBCA-DE 12 57111493 57111493 single base substitution A G intron_variant PBCA-DE 12 57111493 57111493 single base substitution A G missense_variant L1274P 3821T>C PBCA-DE 12 57111493 57111493 single base substitution A G upstream_gene_variant PBCA-DE 12 57119172 57119172 single base substitution G T 5_prime_UTR_variant PBCA-DE 12 57119172 57119172 single base substitution G T upstream_gene_variant PBCA-DE 12 57126234 57126234 single base substitution C T upstream_gene_variant PRAD-CA 12 57105240 57105240 single base substitution T C downstream_gene_variant PRAD-CA 12 57107189 57107189 single base substitution A G downstream_gene_variant PRAD-CA 12 57107189 57107189 single base substitution A G intron_variant PRAD-CA 12 57107189 57107189 single base substitution A G upstream_gene_variant PRAD-CA 12 57111539 57111539 single base substitution G A intron_variant PRAD-CA 12 57111539 57111539 single base substitution G A missense_variant P1259S 3775C>T PRAD-CA 12 57111539 57111539 single base substitution G A upstream_gene_variant PRAD-CA 12 57111588 57111588 single base substitution T A intron_variant PRAD-CA 12 57111588 57111588 single base substitution T A synonymous_variant T1242T 3726A>T PRAD-CA 12 57111588 57111588 single base substitution T A upstream_gene_variant PRAD-CA 12 57119669 57119669 single base substitution C T 5_prime_UTR_variant PRAD-CA 12 57119669 57119669 single base substitution C T intron_variant PRAD-CA 12 57119669 57119669 single base substitution C T upstream_gene_variant PRAD-UK 12 57116627 57116627 single base substitution C A downstream_gene_variant PRAD-UK 12 57116627 57116627 single base substitution C A intron_variant PRAD-UK 12 57116627 57116627 single base substitution C A upstream_gene_variant PRAD-UK 12 57121276 57121276 single base substitution G C intron_variant PRAD-UK 12 57121276 57121276 single base substitution G C upstream_gene_variant PRAD-UK 12 57123997 57123997 single base substitution C T intron_variant PRAD-UK 12 57123997 57123997 single base substitution C T upstream_gene_variant PRAD-UK 12 57124532 57124532 single base substitution G A intron_variant PRAD-UK 12 57124532 57124532 single base substitution G A upstream_gene_variant PRAD-US 12 57111547 57111547 single base substitution G C intron_variant PRAD-US 12 57111547 57111547 single base substitution G C missense_variant A1256G 3767C>G PRAD-US 12 57111547 57111547 single base substitution G C upstream_gene_variant PRAD-US 12 57111705 57111705 single base substitution G A intron_variant PRAD-US 12 57111705 57111705 single base substitution G A synonymous_variant P1203P 3609C>T PRAD-US 12 57111705 57111705 single base substitution G A upstream_gene_variant PRAD-US 12 57111912 57111912 single base substitution G A intron_variant PRAD-US 12 57111912 57111912 single base substitution G A synonymous_variant P1134P 3402C>T PRAD-US 12 57111912 57111912 single base substitution G A upstream_gene_variant PRAD-US 12 57112065 57112065 single base substitution T C intron_variant PRAD-US 12 57112065 57112065 single base substitution T C synonymous_variant P1083P 3249A>G PRAD-US 12 57112065 57112065 single base substitution T C upstream_gene_variant PRAD-US 12 57112089 57112089 single base substitution G A intron_variant PRAD-US 12 57112089 57112089 single base substitution G A synonymous_variant S1075S 3225C>T PRAD-US 12 57112089 57112089 single base substitution G A upstream_gene_variant PRAD-US 12 57112272 57112272 single base substitution C T intron_variant PRAD-US 12 57112272 57112272 single base substitution C T synonymous_variant V1014V 3042G>A PRAD-US 12 57112272 57112272 single base substitution C T upstream_gene_variant READ-US 12 57106613 57106613 single base substitution C T 3_prime_UTR_variant READ-US 12 57106613 57106613 single base substitution C T downstream_gene_variant READ-US 12 57106613 57106613 single base substitution C T exon_variant READ-US 12 57106613 57106613 single base substitution C T missense_variant R118Q 353G>A READ-US 12 57106613 57106613 single base substitution C T missense_variant R195Q 584G>A READ-US 12 57106613 57106613 single base substitution C T missense_variant R197Q 590G>A READ-US 12 57106613 57106613 single base substitution C T missense_variant R2060Q 6179G>A READ-US 12 57106613 57106613 single base substitution C T missense_variant R907Q 2720G>A RECA-EU 12 57102769 57102769 single base substitution T C downstream_gene_variant RECA-EU 12 57103485 57103485 single base substitution G A downstream_gene_variant RECA-EU 12 57103684 57103684 single base substitution T C downstream_gene_variant RECA-EU 12 57118459 57118459 single base substitution A G intron_variant RECA-EU 12 57119411 57119411 single base substitution C A 5_prime_UTR_variant RECA-EU 12 57119411 57119411 single base substitution C A intron_variant RECA-EU 12 57119411 57119411 single base substitution C A upstream_gene_variant RECA-EU 12 57125663 57125663 single base substitution C A upstream_gene_variant SKCA-BR 12 57104278 57104278 single base substitution C T downstream_gene_variant SKCA-BR 12 57104573 57104573 single base substitution A C downstream_gene_variant SKCA-BR 12 57104592 57104592 single base substitution A C downstream_gene_variant SKCA-BR 12 57109499 57109500 deletion of <=200bp CT - intron_variant SKCA-BR 12 57109499 57109500 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 12 57111677 57111677 single base substitution A G intron_variant SKCA-BR 12 57111677 57111677 single base substitution A G missense_variant S1213P 3637T>C SKCA-BR 12 57111677 57111677 single base substitution A G upstream_gene_variant SKCA-BR 12 57111746 57111746 single base substitution A G intron_variant SKCA-BR 12 57111746 57111746 single base substitution A G missense_variant S1190P 3568T>C SKCA-BR 12 57111746 57111746 single base substitution A G upstream_gene_variant SKCA-BR 12 57111932 57111932 single base substitution T G intron_variant SKCA-BR 12 57111932 57111932 single base substitution T G missense_variant T1128P 3382A>C SKCA-BR 12 57111932 57111932 single base substitution T G upstream_gene_variant SKCA-BR 12 57112003 57112003 single base substitution A G intron_variant SKCA-BR 12 57112003 57112003 single base substitution A G missense_variant M1104T 3311T>C SKCA-BR 12 57112003 57112003 single base substitution A G upstream_gene_variant SKCA-BR 12 57112175 57112175 single base substitution G A intron_variant SKCA-BR 12 57112175 57112175 single base substitution G A missense_variant P1047S 3139C>T SKCA-BR 12 57112175 57112175 single base substitution G A upstream_gene_variant SKCA-BR 12 57112715 57112715 single base substitution G A intron_variant SKCA-BR 12 57112715 57112715 single base substitution G A missense_variant P867S 2599C>T SKCA-BR 12 57112715 57112715 single base substitution G A upstream_gene_variant SKCA-BR 12 57117071 57117071 single base substitution A G downstream_gene_variant SKCA-BR 12 57117071 57117071 single base substitution A G intron_variant SKCA-BR 12 57117071 57117071 single base substitution A G upstream_gene_variant SKCA-BR 12 57119810 57119810 single base substitution C T 5_prime_UTR_variant SKCA-BR 12 57119810 57119810 single base substitution C T intron_variant SKCA-BR 12 57119810 57119810 single base substitution C T upstream_gene_variant SKCA-BR 12 57120069 57120070 deletion of <=200bp AT - 5_prime_UTR_variant SKCA-BR 12 57120069 57120070 deletion of <=200bp AT - intron_variant SKCA-BR 12 57120069 57120070 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 12 57120997 57120997 single base substitution T C intron_variant SKCA-BR 12 57120997 57120997 single base substitution T C upstream_gene_variant SKCA-BR 12 57121205 57121205 single base substitution A C intron_variant SKCA-BR 12 57121205 57121205 single base substitution A C upstream_gene_variant SKCA-BR 12 57123140 57123140 single base substitution T C intron_variant SKCA-BR 12 57123140 57123140 single base substitution T C upstream_gene_variant STAD-US 12 57106630 57106630 single base substitution C A 3_prime_UTR_variant STAD-US 12 57106630 57106630 single base substitution C A downstream_gene_variant STAD-US 12 57106630 57106630 single base substitution C A exon_variant STAD-US 12 57106630 57106630 single base substitution C A synonymous_variant S112S 336G>T STAD-US 12 57106630 57106630 single base substitution C A synonymous_variant S189S 567G>T STAD-US 12 57106630 57106630 single base substitution C A synonymous_variant S191S 573G>T STAD-US 12 57106630 57106630 single base substitution C A synonymous_variant S2054S 6162G>T STAD-US 12 57106630 57106630 single base substitution C A synonymous_variant S901S 2703G>T STAD-US 12 57106973 57106973 single base substitution A G downstream_gene_variant STAD-US 12 57106973 57106973 single base substitution A G exon_variant STAD-US 12 57106973 57106973 single base substitution A G missense_variant I124T 371T>C STAD-US 12 57106973 57106973 single base substitution A G missense_variant I126T 377T>C STAD-US 12 57106973 57106973 single base substitution A G missense_variant I128T 383T>C STAD-US 12 57106973 57106973 single base substitution A G missense_variant I1991T 5972T>C STAD-US 12 57106973 57106973 single base substitution A G missense_variant I49T 146T>C STAD-US 12 57106973 57106973 single base substitution A G missense_variant I838T 2513T>C STAD-US 12 57106973 57106973 single base substitution A G splice_region_variant STAD-US 12 57107321 57107321 single base substitution C T downstream_gene_variant STAD-US 12 57107321 57107321 single base substitution C T splice_region_variant STAD-US 12 57107321 57107321 single base substitution C T upstream_gene_variant STAD-US 12 57107367 57107367 single base substitution T C downstream_gene_variant STAD-US 12 57107367 57107367 single base substitution T C exon_variant STAD-US 12 57107367 57107367 single base substitution T C missense_variant Y108C 323A>G STAD-US 12 57107367 57107367 single base substitution T C missense_variant Y110C 329A>G STAD-US 12 57107367 57107367 single base substitution T C missense_variant Y112C 335A>G STAD-US 12 57107367 57107367 single base substitution T C missense_variant Y1975C 5924A>G STAD-US 12 57107367 57107367 single base substitution T C missense_variant Y33C 98A>G STAD-US 12 57107367 57107367 single base substitution T C missense_variant Y822C 2465A>G STAD-US 12 57107367 57107367 single base substitution T C upstream_gene_variant STAD-US 12 57127957 57127957 single base substitution C T upstream_gene_variant STAD-US 12 57128007 57128007 single base substitution T C upstream_gene_variant THCA-SA 12 57110641 57110643 deletion of <=200bp GGG - disruptive_inframe_deletion SP1557S THCA-SA 12 57110641 57110643 deletion of <=200bp GGG - intron_variant THCA-SA 12 57110641 57110643 deletion of <=200bp GGG - upstream_gene_variant THCA-SA 12 57111577 57111577 single base substitution G T intron_variant THCA-SA 12 57111577 57111577 single base substitution G T missense_variant A1246E 3737C>A THCA-SA 12 57111577 57111577 single base substitution G T upstream_gene_variant THCA-SA 12 57112060 57112060 single base substitution G A intron_variant THCA-SA 12 57112060 57112060 single base substitution G A missense_variant A1085V 3254C>T THCA-SA 12 57112060 57112060 single base substitution G A upstream_gene_variant THCA-SA 12 57114113 57114113 single base substitution C T downstream_gene_variant THCA-SA 12 57114113 57114113 single base substitution C T intron_variant THCA-SA 12 57114113 57114113 single base substitution C T missense_variant V401I 1201G>A THCA-SA 12 57114113 57114113 single base substitution C T upstream_gene_variant UCEC-US 12 57106577 57106577 single base substitution G A 3_prime_UTR_variant UCEC-US 12 57106577 57106577 single base substitution G A downstream_gene_variant UCEC-US 12 57106577 57106577 single base substitution G A exon_variant UCEC-US 12 57106577 57106577 single base substitution G A missense_variant A130V 389C>T UCEC-US 12 57106577 57106577 single base substitution G A missense_variant A2072V 6215C>T UCEC-US 12 57106577 57106577 single base substitution G A missense_variant A207V 620C>T UCEC-US 12 57106577 57106577 single base substitution G A missense_variant A209V 626C>T UCEC-US 12 57106577 57106577 single base substitution G A missense_variant A919V 2756C>T UCEC-US 12 57106631 57106631 single base substitution G A 3_prime_UTR_variant UCEC-US 12 57106631 57106631 single base substitution G A downstream_gene_variant UCEC-US 12 57106631 57106631 single base substitution G A exon_variant UCEC-US 12 57106631 57106631 single base substitution G A missense_variant S112L 335C>T UCEC-US 12 57106631 57106631 single base substitution G A missense_variant S189L 566C>T UCEC-US 12 57106631 57106631 single base substitution G A missense_variant S191L 572C>T UCEC-US 12 57106631 57106631 single base substitution G A missense_variant S2054L 6161C>T UCEC-US 12 57106631 57106631 single base substitution G A missense_variant S901L 2702C>T UCEC-US 12 57107325 57107325 single base substitution G A 3_prime_UTR_variant UCEC-US 12 57107325 57107325 single base substitution G A downstream_gene_variant UCEC-US 12 57107325 57107325 single base substitution G A exon_variant UCEC-US 12 57107325 57107325 single base substitution G A missense_variant A122V 365C>T UCEC-US 12 57107325 57107325 single base substitution G A missense_variant A124V 371C>T UCEC-US 12 57107325 57107325 single base substitution G A missense_variant A126V 377C>T UCEC-US 12 57107325 57107325 single base substitution G A missense_variant A1989V 5966C>T UCEC-US 12 57107325 57107325 single base substitution G A missense_variant A47V 140C>T UCEC-US 12 57107325 57107325 single base substitution G A missense_variant A836V 2507C>T UCEC-US 12 57107325 57107325 single base substitution G A upstream_gene_variant UCEC-US 12 57108169 57108169 single base substitution G A 3_prime_UTR_variant UCEC-US 12 57108169 57108169 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 57108169 57108169 single base substitution G A exon_variant UCEC-US 12 57108169 57108169 single base substitution G A intron_variant UCEC-US 12 57108169 57108169 single base substitution G A missense_variant R1934W 5800C>T UCEC-US 12 57108169 57108169 single base substitution G A missense_variant R67W 199C>T UCEC-US 12 57108169 57108169 single base substitution G A missense_variant R69W 205C>T UCEC-US 12 57108169 57108169 single base substitution G A missense_variant R71W 211C>T UCEC-US 12 57108169 57108169 single base substitution G A missense_variant R781W 2341C>T UCEC-US 12 57108169 57108169 single base substitution G A upstream_gene_variant UCEC-US 12 57108409 57108409 deletion of <=200bp G - 3_prime_UTR_variant UCEC-US 12 57108409 57108409 deletion of <=200bp G - 5_prime_UTR_variant UCEC-US 12 57108409 57108409 deletion of <=200bp G - exon_variant UCEC-US 12 57108409 57108409 deletion of <=200bp G - frameshift_variant Q1908 UCEC-US 12 57108409 57108409 deletion of <=200bp G - frameshift_variant Q41 UCEC-US 12 57108409 57108409 deletion of <=200bp G - frameshift_variant Q43 UCEC-US 12 57108409 57108409 deletion of <=200bp G - frameshift_variant Q45 UCEC-US 12 57108409 57108409 deletion of <=200bp G - frameshift_variant Q755 UCEC-US 12 57108409 57108409 deletion of <=200bp G - intron_variant UCEC-US 12 57108409 57108409 deletion of <=200bp G - upstream_gene_variant UCEC-US 12 57110722 57110722 single base substitution G A intron_variant UCEC-US 12 57110722 57110722 single base substitution G A missense_variant A1531V 4592C>T UCEC-US 12 57110722 57110722 single base substitution G A upstream_gene_variant UCEC-US 12 57112749 57112749 single base substitution A G intron_variant UCEC-US 12 57112749 57112749 single base substitution A G synonymous_variant S855S 2565T>C UCEC-US 12 57112749 57112749 single base substitution A G upstream_gene_variant UCEC-US 12 57112936 57112936 single base substitution G T intron_variant UCEC-US 12 57112936 57112936 single base substitution G T missense_variant S793Y 2378C>A UCEC-US 12 57112936 57112936 single base substitution G T upstream_gene_variant UCEC-US 12 57112966 57112966 single base substitution G T intron_variant UCEC-US 12 57112966 57112966 single base substitution G T missense_variant S783Y 2348C>A UCEC-US 12 57112966 57112966 single base substitution G T upstream_gene_variant UCEC-US 12 57113053 57113053 single base substitution A C intron_variant UCEC-US 12 57113053 57113053 single base substitution A C missense_variant I754S 2261T>G UCEC-US 12 57113053 57113053 single base substitution A C upstream_gene_variant UCEC-US 12 57113329 57113329 single base substitution G T downstream_gene_variant UCEC-US 12 57113329 57113329 single base substitution G T intron_variant UCEC-US 12 57113329 57113329 single base substitution G T missense_variant T19N 56C>A UCEC-US 12 57113329 57113329 single base substitution G T missense_variant T619N 1856C>A UCEC-US 12 57113329 57113329 single base substitution G T missense_variant T662N 1985C>A UCEC-US 12 57113329 57113329 single base substitution G T upstream_gene_variant UCEC-US 12 57113428 57113428 single base substitution G A downstream_gene_variant UCEC-US 12 57113428 57113428 single base substitution G A intron_variant UCEC-US 12 57113428 57113428 single base substitution G A missense_variant P629L 1886C>T UCEC-US 12 57113428 57113428 single base substitution G A upstream_gene_variant UCEC-US 12 57113583 57113583 single base substitution G A downstream_gene_variant UCEC-US 12 57113583 57113583 single base substitution G A intron_variant UCEC-US 12 57113583 57113583 single base substitution G A synonymous_variant S577S 1731C>T UCEC-US 12 57113583 57113583 single base substitution G A upstream_gene_variant UCEC-US 12 57113968 57113968 single base substitution A C downstream_gene_variant UCEC-US 12 57113968 57113968 single base substitution A C intron_variant UCEC-US 12 57113968 57113968 single base substitution A C missense_variant I449S 1346T>G UCEC-US 12 57113968 57113968 single base substitution A C upstream_gene_variant UCEC-US 12 57114044 57114044 single base substitution G T downstream_gene_variant UCEC-US 12 57114044 57114044 single base substitution G T intron_variant UCEC-US 12 57114044 57114044 single base substitution G T missense_variant H424N 1270C>A UCEC-US 12 57114044 57114044 single base substitution G T upstream_gene_variant UCEC-US 12 57114079 57114079 single base substitution G T downstream_gene_variant UCEC-US 12 57114079 57114079 single base substitution G T intron_variant UCEC-US 12 57114079 57114079 single base substitution G T missense_variant S412Y 1235C>A UCEC-US 12 57114079 57114079 single base substitution G T upstream_gene_variant UCEC-US 12 57114205 57114205 single base substitution G T downstream_gene_variant UCEC-US 12 57114205 57114205 single base substitution G T intron_variant UCEC-US 12 57114205 57114205 single base substitution G T missense_variant T370N 1109C>A UCEC-US 12 57114205 57114205 single base substitution G T upstream_gene_variant UCEC-US 12 57114324 57114324 single base substitution A C downstream_gene_variant UCEC-US 12 57114324 57114324 single base substitution A C intron_variant UCEC-US 12 57114324 57114324 single base substitution A C synonymous_variant A330A 990T>G UCEC-US 12 57114324 57114324 single base substitution A C upstream_gene_variant UCEC-US 12 57114367 57114367 single base substitution G T downstream_gene_variant UCEC-US 12 57114367 57114367 single base substitution G T intron_variant UCEC-US 12 57114367 57114367 single base substitution G T missense_variant S316Y 947C>A UCEC-US 12 57114367 57114367 single base substitution G T upstream_gene_variant UCEC-US 12 57114544 57114544 single base substitution G T downstream_gene_variant UCEC-US 12 57114544 57114544 single base substitution G T intron_variant UCEC-US 12 57114544 57114544 single base substitution G T missense_variant S257Y 770C>A UCEC-US 12 57114544 57114544 single base substitution G T upstream_gene_variant UCEC-US 12 57114547 57114547 single base substitution A C downstream_gene_variant UCEC-US 12 57114547 57114547 single base substitution A C intron_variant UCEC-US 12 57114547 57114547 single base substitution A C missense_variant I256S 767T>G UCEC-US 12 57114547 57114547 single base substitution A C upstream_gene_variant UCEC-US 12 57114659 57114659 single base substitution G A downstream_gene_variant UCEC-US 12 57114659 57114659 single base substitution G A intron_variant UCEC-US 12 57114659 57114659 single base substitution G A missense_variant P219S 655C>T UCEC-US 12 57114659 57114659 single base substitution G A upstream_gene_variant UCEC-US 12 57115073 57115073 single base substitution G A downstream_gene_variant UCEC-US 12 57115073 57115073 single base substitution G A intron_variant UCEC-US 12 57115073 57115073 single base substitution G A missense_variant P81S 241C>T UCEC-US 12 57115073 57115073 single base substitution G A upstream_gene_variant UCEC-US 12 57118253 57118253 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 57118253 57118253 single base substitution T A downstream_gene_variant UCEC-US 12 57118253 57118253 single base substitution T A exon_variant UCEC-US 12 57118253 57118253 single base substitution T A missense_variant Q18L 53A>T UCEC-US 12 57118253 57118253 single base substitution T A upstream_gene_variant UCEC-US 12 57127994 57127994 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HT115 COSM1987831 c.1681C>T p.P561S Substitution - Missense 12:56719849-56719849 - TCGA-B7-5816-01 COSM4043709 c.573G>T p.S191S Substitution - coding silent 12:56712846-56712846 - YUKAT COSM5375657 c.286A>C p.I96L Substitution - Missense 12:56713632-56713632 - TCGA-BS-A0UV-01 COSM941806 c.211C>T p.R71W Substitution - Missense 12:56714385-56714385 - CSCC-27-T COSM4446620 c.4849C>T p.P1617S Substitution - Missense 12:56716681-56716681 - ORL-48 COSM1987742 c.3764C>T p.P1255L Substitution - Missense 12:56717766-56717766 - ccRCC-28 COSM1662989 c.773C>T p.P258L Substitution - Missense 12:56720757-56720757 - CSCC-6-T COSM4446639 c.2218C>T p.P740S Substitution - Missense 12:56719312-56719312 - SCC-9 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - PT08_1 COSM5893688 c.1709C>T p.S570F Substitution - Missense 12:56719821-56719821 - PTC-53C COSM1987792 c.2919A>C p.P973P Substitution - coding silent 12:56718611-56718611 - HCC98 COSM1606399 c.3420A>G p.L1140L Substitution - coding silent 12:56718110-56718110 - T3024 COSM1987651 c.5750C>T p.A1917V Substitution - Missense 12:56714435-56714435 - PTC-77C COSM4147310 c.1605A>C p.V535V Substitution - coding silent 12:56719925-56719925 - 07-058 COSM3736068 c.1201G>A p.V401I Substitution - Missense 12:56720329-56720329 - LOVO COSM1987774 c.3171delC p.T1058fs*60 Deletion - Frameshift 12:56718359-56718359 - HCT15 COSM1987801 c.2705C>T p.T902I Substitution - Missense 12:56718825-56718825 - HX11T COSM1606403 c.1801A>G p.I601V Substitution - Missense 12:56719729-56719729 - TCGA-EI-6882-01 COSM3417013 c.6179G>A p.R2060Q Substitution - Missense 12:56712829-56712829 - CSCC-31-T COSM4567842 c.894_895CC>TT p.P299S Substitution - Missense 12:56720635-56720636 - PD24199a COSM5790990 c.258G>A p.R86R Substitution - coding silent 12:56713660-56713660 - HCC9 COSM347009 c.5679C>T p.D1893D Substitution - coding silent 12:56714668-56714668 - WSU-HN30 COSM3719744 c.3775C>T p.P1259S Substitution - Missense 12:56717755-56717755 - 90405 COSM330263 c.4554T>C p.A1518A Substitution - coding silent 12:56716976-56716976 - 2492726 COSM5725441 c.3750C>T p.S1250S Substitution - coding silent 12:56717780-56717780 - sysucc-834T COSM1987651 c.5750C>T p.A1917V Substitution - Missense 12:56714435-56714435 - CSCC-44-T COSM4446632 c.3012C>T p.S1004S Substitution - coding silent 12:56718518-56718518 - TCGA-BS-A0UV-01 COSM941800 c.626C>T p.A209V Substitution - Missense 12:56712793-56712793 - TCGA-A3-3351-01 COSM1135406 c.268G>T p.G90* Substitution - Nonsense 12:56713650-56713650 - TCGA-BS-A0UV-01 COSM1586615 c.770C>A p.S257Y Substitution - Missense 12:56720760-56720760 - CSCC-62-T COSM4446625 c.3777C>T p.P1259P Substitution - coding silent 12:56717753-56717753 - PTC-10C COSM4147303 c.5383T>A p.S1795T Substitution - Missense 12:56716147-56716147 - 2492702 COSM5715783 c.1357C>T p.P453S Substitution - Missense 12:56720173-56720173 - 1115154 COSM1987781 c.3042G>A p.V1014V Substitution - coding silent 12:56718488-56718488 - RK154_C01 COSM3739789 c.2379C>T p.S793S Substitution - coding silent 12:56719151-56719151 - UM-SCC-4 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - I2L-P19Tb-Tumor-Biopsy COSM5361650 c.3900C>T p.G1300G Substitution - coding silent 12:56717630-56717630 - TCGA-HC-7232-01 COSM4393586 c.3609C>T p.P1203P Substitution - coding silent 12:56717921-56717921 - MBRep_T27 COSM307079 c.858G>T p.V286V Substitution - coding silent 12:56720672-56720672 - UM-SCC-47 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - 40M COSM5585877 c.3887C>T p.S1296F Substitution - Missense 12:56717643-56717643 - TCGA-AP-A051-01 COSM1586631 c.2565T>C p.S855S Substitution - coding silent 12:56718965-56718965 - S0080 COSM5882289 c.517G>A p.E173K Substitution - Missense 12:56712902-56712902 - TCGA-A6-6780-01 COSM4948608 c.776A>G p.Q259R Substitution - Missense 12:56720754-56720754 - LS411 COSM1987900 c.65A>G p.E22G Substitution - Missense 12:56724457-56724457 - PD24199a COSM5797060 c.5922C>G p.V1974V Substitution - coding silent 12:56713585-56713585 - ESO-721 COSM1258667 c.6139G>C p.V2047L Substitution - Missense 12:56712869-56712869 - CSCC-49-T COSM4446623 c.4131C>T p.S1377S Substitution - coding silent 12:56717399-56717399 - Gp5D COSM1987783 c.3023C>A p.A1008D Substitution - Missense 12:56718507-56718507 - TCGA-KK-A6E2-01 COSM4879378 c.3767C>G p.A1256G Substitution - Missense 12:56717763-56717763 - PTC-50C COSM1987782 c.3041T>C p.V1014A Substitution - Missense 12:56718489-56718489 - HCC98T COSM1606399 c.3420A>G p.L1140L Substitution - coding silent 12:56718110-56718110 - TCGA-D5-6535-01 COSM1363157 c.115G>A p.E39K Substitution - Missense 12:56714643-56714643 - CHC051T COSM3667186 c.4065C>A p.S1355S Substitution - coding silent 12:56717465-56717465 - ESCC-128T COSM3936063 c.1722A>G p.Q574Q Substitution - coding silent 12:56719808-56719808 - 2492724 COSM5725441 c.3750C>T p.S1250S Substitution - coding silent 12:56717780-56717780 - CSCC-47-T COSM4446633 c.2985C>T p.S995S Substitution - coding silent 12:56718545-56718545 - TCGA-BR-7707-01 COSM4043716 c.5970G>A p.K1990K Substitution - coding silent 12:56713537-56713537 - 2492720 COSM5721982 c.4026C>T p.S1342S Substitution - coding silent 12:56717504-56717504 - B105-0-Tumor COSM1747160 c.67A>C p.T23P Substitution - Missense 12:56724455-56724455 - CAL33 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - PTC-515C COSM1987751 c.3641C>A p.P1214H Substitution - Missense 12:56717889-56717889 - TCGA-IR-A3LK-01 COSM4817739 c.868C>G p.Q290E Substitution - Missense 12:56720662-56720662 - 2530678 COSM3782749 c.3402C>T p.P1134P Substitution - coding silent 12:56718128-56718128 - I2L-P7-Tumor-Organoid COSM5367834 c.2583_2584insC p.K862fs*67 Insertion - Frameshift 12:56718946-56718947 - 61 COSM5739692 c.6171G>T p.K2057N Substitution - Missense 12:56712837-56712837 - WSU-HN13 COSM3719744 c.3775C>T p.P1259S Substitution - Missense 12:56717755-56717755 - AML_14y_06_DX COSM5956757 c.3212C>T p.P1071L Substitution - Missense 12:56718318-56718318 - CPCG0185-F1 COSM4966482 c.3726A>T p.T1242T Substitution - coding silent 12:56717804-56717804 - PTC-28C COSM4147301 c.5522T>C p.L1841P Substitution - Missense 12:56716008-56716008 - TCGA-D1-A101-01 COSM941809 c.5782A>G p.S1928G Substitution - Missense 12:56714403-56714403 - TCGA-AX-A0J0-01 COSM1586613 c.767T>G p.I256S Substitution - Missense 12:56720763-56720763 - TCGA-AD-6889-01 COSM4786656 c.989C>T p.A330V Substitution - Missense 12:56720541-56720541 - Sample_1 COSM5021761 c.3191T>C p.L1064P Substitution - Missense 12:56718339-56718339 - RK308_C01 COSM3739791 c.610A>G p.S204G Substitution - Missense 12:56720920-56720920 - PTC_135 COSM5957635 c.3737C>A p.A1246E Substitution - Missense 12:56717793-56717793 - PR-09-5094 COSM245919 c.2877G>C p.P959P Substitution - coding silent 12:56718653-56718653 - TCGA-BS-A0UF-01 COSM1586630 c.2378C>A p.S793Y Substitution - Missense 12:56719152-56719152 - TCGA-CC-A3MC-01 COSM4919598 c.1711C>A p.P571T Substitution - Missense 12:56719819-56719819 - T10 COSM1128524 c.177T>C p.I59I Substitution - coding silent 12:56714419-56714419 - TCGA-EI-6882-01 COSM3417012 c.590G>A p.R197Q Substitution - Missense 12:56712829-56712829 - AML_14y_06_DX COSM4209591 c.3471T>C p.P1157P Substitution - coding silent 12:56718059-56718059 - PTC-70C COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - HN_62376 COSM121280 c.450C>G p.V150V Substitution - coding silent 12:56713122-56713122 - TCGA-B5-A0JR-01 COSM1651266 c.1985C>A p.T662N Substitution - Missense 12:56719545-56719545 - Gp2D COSM1987799 c.2762C>T p.A921V Substitution - Missense 12:56718768-56718768 - HCC145 COSM3704295 c.197C>G p.P66R Substitution - Missense 12:56721333-56721333 - PTC-7C COSM4147303 c.5383T>A p.S1795T Substitution - Missense 12:56716147-56716147 - Pat_15_B COSM5841563 c.59A>G p.Q20R Substitution - Missense 12:56724463-56724463 - WSU-HN30 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - HCC145T COSM3704295 c.197C>G p.P66R Substitution - Missense 12:56721333-56721333 - TCGA-BS-A0UV-01 COSM941807 c.5800C>T p.R1934W Substitution - Missense 12:56714385-56714385 - 8051728 COSM4209590 c.3658A>C p.T1220P Substitution - Missense 12:56717872-56717872 - TCGA-BR-7707-01 COSM4043715 c.381G>A p.K127K Substitution - coding silent 12:56713537-56713537 - SC_9104 COSM5569073 c.3243T>C p.T1081T Substitution - coding silent 12:56718287-56718287 - TCGA-74-6577-01 COSM3398908 c.214A>G p.S72G Substitution - Missense 12:56714382-56714382 - TCGA-AA-3715-01 COSM269686 c.1958C>T p.A653V Substitution - Missense 12:56719572-56719572 - PD4954a COSM5778245 c.4211C>T p.S1404F Substitution - Missense 12:56717319-56717319 - TCGA-B6-A0I1-01 COSM3812607 c.5052A>G p.V1684V Substitution - coding silent 12:56716478-56716478 - ESCC-F54 COSM4765807 c.897_898insC p.D300fs*30 Insertion - Frameshift 12:56720632-56720633 - SCC-15 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - AML_14y_07_DX COSM5956574 c.3974G>C p.G1325A Substitution - Missense 12:56717556-56717556 - B105-0 COSM1747160 c.67A>C p.T23P Substitution - Missense 12:56724455-56724455 - TCGA-FC-A5OB-01 COSM1987781 c.3042G>A p.V1014V Substitution - coding silent 12:56718488-56718488 - TCGA-AP-A0LM-01 COSM1586621 c.1109C>A p.T370N Substitution - Missense 12:56720421-56720421 - TCGA-CD-5813-01 COSM4043712 c.383T>C p.I128T Substitution - Missense 12:56713189-56713189 - TCGA-AA-A00N-01 COSM276251 c.769T>C p.S257P Substitution - Missense 12:56720761-56720761 - UM-SCC-47 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - S0080 COSM5882290 c.6106G>A p.E2036K Substitution - Missense 12:56712902-56712902 - TCGA-ED-A459-01 COSM4935649 c.875C>A p.T292N Substitution - Missense 12:56720655-56720655 - PD24199a COSM5791007 c.270A>G p.G90G Substitution - coding silent 12:56713648-56713648 - CSCC-31-T COSM4446634 c.2964C>T p.P988P Substitution - coding silent 12:56718566-56718566 - CSCC-31-T COSM4446635 c.2945C>T p.P982L Substitution - Missense 12:56718585-56718585 - CAL33 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - S0029 COSM5882291 c.2387C>T p.P796L Substitution - Missense 12:56719143-56719143 - PTC-50C COSM4147305 c.3888T>C p.S1296S Substitution - coding silent 12:56717642-56717642 - TCGA-A8-A06P-01 COSM431541 c.64G>A p.E22K Substitution - Missense 12:56724458-56724458 - A673 COSM1987684 c.5275A>G p.K1759E Substitution - Missense 12:56716255-56716255 - HCC106T COSM1606400 c.3375A>C p.A1125A Substitution - coding silent 12:56718155-56718155 - TCGA-D5-6535-01 COSM1363158 c.5704G>A p.E1902K Substitution - Missense 12:56714643-56714643 - Au4 COSM5604194 c.4950C>T p.S1650S Substitution - coding silent 12:56716580-56716580 - 2492722 COSM5721982 c.4026C>T p.S1342S Substitution - coding silent 12:56717504-56717504 - HCC2998 COSM1363154 c.384C>T p.I128I Substitution - coding silent 12:56713188-56713188 - PD24199a COSM5797059 c.333C>G p.V111V Substitution - coding silent 12:56713585-56713585 - TCGA-E2-A10C-01 COSM3812608 c.3085C>A p.P1029T Substitution - Missense 12:56718445-56718445 - HCC106T COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - 1862877 COSM1180645 c.544G>C p.E182Q Substitution - Missense 12:56712875-56712875 - TCGA-AX-A05Z-01 COSM1586623 c.1235C>A p.S412Y Substitution - Missense 12:56720295-56720295 - UM-SCC-11B COSM1987752 c.3637T>C p.S1213P Substitution - Missense 12:56717893-56717893 - CRC-19T COSM5481078 c.5322A>C p.T1774T Substitution - coding silent 12:56716208-56716208 - SCC-25 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - T3024 COSM1987650 c.161C>T p.A54V Substitution - Missense 12:56714435-56714435 - BD6T COSM941800 c.626C>T p.A209V Substitution - Missense 12:56712793-56712793 - TCGA-A2-A04W-01 COSM4814891 c.263G>C p.G88A Substitution - Missense 12:56721267-56721267 - SJBALL021305_D1 COSM4994030 c.454A>G p.N152D Substitution - Missense 12:56713118-56713118 - 2492701 COSM5715783 c.1357C>T p.P453S Substitution - Missense 12:56720173-56720173 - 2492704 COSM4209594 c.3225C>T p.S1075S Substitution - coding silent 12:56718305-56718305 - STC297 COSM5051798 c.5561C>A p.P1854H Substitution - Missense 12:56715969-56715969 - 2492700 COSM5715783 c.1357C>T p.P453S Substitution - Missense 12:56720173-56720173 - LS411 COSM1987899 c.65A>G p.E22G Substitution - Missense 12:56724457-56724457 - HCC54T COSM1606405 c.518T>G p.I173R Substitution - Missense 12:56721012-56721012 - PD24199a COSM5790991 c.5847G>A p.R1949R Substitution - coding silent 12:56713660-56713660 - HCC98T COSM1606400 c.3375A>C p.A1125A Substitution - coding silent 12:56718155-56718155 - YUPAER COSM5375662 c.275C>T p.P92L Substitution - Missense 12:56721255-56721255 - TCGA-D1-A17Q-01 COSM941804 c.377C>T p.A126V Substitution - Missense 12:56713541-56713541 - HCT15 COSM4209592 c.3258T>A p.T1086T Substitution - coding silent 12:56718272-56718272 - pfg145T COSM4765807 c.897_898insC p.D300fs*30 Insertion - Frameshift 12:56720632-56720633 - TCGA-AP-A059-01 COSM1586627 c.1731C>T p.S577S Substitution - coding silent 12:56719799-56719799 - UPCI:SCC090 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - TCGA-BS-A0UF-01 COSM1586617 c.947C>A p.S316Y Substitution - Missense 12:56720583-56720583 - HCT116 COSM1987666 c.5572G>A p.V1858I Substitution - Missense 12:56715958-56715958 - CHC051T COSM3667186 c.4065C>A p.S1355S Substitution - coding silent 12:56717465-56717465 - BD6T COSM941801 c.6215C>T p.A2072V Substitution - Missense 12:56712793-56712793 - CRC-06T COSM5457544 c.5372_5373delCT p.S1791fs*22 Deletion - Frameshift 12:56716157-56716158 - TCGA-DK-A1AC-01 COSM1299694 c.5770G>A p.E1924K Substitution - Missense 12:56714415-56714415 - ML_34_T_01 COSM5038272 c.3568T>C p.S1190P Substitution - Missense 12:56717962-56717962 - CSCC-11-T COSM4570216 c.244T>G p.F82V Substitution - Missense 12:56721286-56721286 - TCGA-A2-A0T5-01 COSM3812613 c.712A>C p.T238P Substitution - Missense 12:56720818-56720818 - ORL-48 COSM3719744 c.3775C>T p.P1259S Substitution - Missense 12:56717755-56717755 - CSCC-11-T COSM4446624 c.3845C>T p.P1282L Substitution - Missense 12:56717685-56717685 - PTC-54C COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - PTC-1C COSM4147310 c.1605A>C p.V535V Substitution - coding silent 12:56719925-56719925 - B105-0 COSM1747159 c.67A>C p.T23P Substitution - Missense 12:56724455-56724455 - PD24199a COSM5791008 c.5859A>G p.G1953G Substitution - coding silent 12:56713648-56713648 - WSU-HN13 COSM1987742 c.3764C>T p.P1255L Substitution - Missense 12:56717766-56717766 - HCC2998 COSM1363155 c.5973C>T p.I1991I Substitution - coding silent 12:56713188-56713188 - 032T COSM1728401 c.124G>A p.G42R Substitution - Missense 12:56721406-56721406 - 3498_T COSM3954989 c.1607C>G p.P536R Substitution - Missense 12:56719923-56719923 - MO_1012 COSM5547229 c.4475_4476delAG p.K1492fs*44 Deletion - Frameshift 12:56717054-56717055 - Gp5D COSM1987799 c.2762C>T p.A921V Substitution - Missense 12:56718768-56718768 - TCGA-DR-A0ZM-01 COSM459425 c.291G>A p.R97R Substitution - coding silent 12:56713627-56713627 - PR-3035 COSM245920 c.3375_3382delACCCACAA p.T1127fs*215 Deletion - Frameshift 12:56718148-56718155 - D-03 COSM1987760 c.3401C>T p.P1134L Substitution - Missense 12:56718129-56718129 - ESCC-D14 COSM5045459 c.5525C>T p.P1842L Substitution - Missense 12:56716005-56716005 - TCGA-HC-7232-01 COSM3782749 c.3402C>T p.P1134P Substitution - coding silent 12:56718128-56718128 - NOKSI COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - TCGA-F4-6856-01 COSM5173686 c.13G>T p.A5S Substitution - Missense 12:56724509-56724509 - TCGA-A2-A0T5-01 COSM3812611 c.1973T>G p.V658G Substitution - Missense 12:56719557-56719557 - TCGA-G4-6588-01 COSM4783575 c.1008G>T p.V336V Substitution - coding silent 12:56720522-56720522 - TCGA-13-1481-01 COSM75547 c.384C>G p.I128M Substitution - Missense 12:56713188-56713188 - TCGA-CG-5721-01 COSM4043718 c.335A>G p.Y112C Substitution - Missense 12:56713583-56713583 - PT33 COSM1987678 c.5423C>T p.P1808L Substitution - Missense 12:56716107-56716107 - TCGA-DR-A0ZM-01 COSM459426 c.5880G>A p.R1960R Substitution - coding silent 12:56713627-56713627 - PTC-54C COSM1606400 c.3375A>C p.A1125A Substitution - coding silent 12:56718155-56718155 - 2492703 COSM5715783 c.1357C>T p.P453S Substitution - Missense 12:56720173-56720173 - CSCC-5-T COSM4448379 c.3680_3681CC>TT p.S1227F Substitution - Missense 12:56717849-56717850 - BHY COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - CSCC-32-T COSM4446626 c.3640C>T p.P1214S Substitution - Missense 12:56717890-56717890 - S01578 COSM5670287 c.1613C>G p.S538C Substitution - Missense 12:56719917-56719917 - OSCC-GB_01370111 COSM5955805 c.5317C>G p.L1773V Substitution - Missense 12:56716213-56716213 - ORL-48 COSM4596650 c.3752C>T p.P1251L Substitution - Missense 12:56717778-56717778 - HCC106T COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - TCGA-BH-A0BJ-01 COSM5832085 c.3780_3781insC p.K1261fs*84 Insertion - Frameshift 12:56717749-56717750 - TCGA-D1-A17Q-01 COSM1586625 c.1270C>A p.H424N Substitution - Missense 12:56720260-56720260 - CSCC-44-T COSM4446628 c.3295C>T p.P1099S Substitution - Missense 12:56718235-56718235 - TCGA-BS-A0UV-01 COSM941802 c.572C>T p.S191L Substitution - Missense 12:56712847-56712847 - 93VU147T COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - TCGA-AC-A23H-01 COSM3812609 c.2134C>G p.P712A Substitution - Missense 12:56719396-56719396 - WSU-HN30 COSM1987752 c.3637T>C p.S1213P Substitution - Missense 12:56717893-56717893 - NOKSI COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - WSU-HN30 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - sysucc-834T COSM1987650 c.161C>T p.A54V Substitution - Missense 12:56714435-56714435 - 4_RESISTANT COSM1724583 c.3936T>C p.P1312P Substitution - coding silent 12:56717594-56717594 - 065T COSM1730289 c.1260T>G p.N420K Substitution - Missense 12:56720270-56720270 - CSCC-27-T COSM4448240 c.2643_2644CC>TT p.P882S Substitution - Missense 12:56718886-56718887 - ccRCC-53 COSM1662991 c.484C>G p.P162A Substitution - Missense 12:56721046-56721046 - CSCC-5-T COSM4446640 c.2057A>C p.K686T Substitution - Missense 12:56719473-56719473 - C086 COSM5535189 c.5462C>T p.P1821L Substitution - Missense 12:56716068-56716068 - RK184_C01 COSM1628733 c.217A>G p.I73V Substitution - Missense 12:56721313-56721313 - PD3945a COSM219262 c.113T>C p.L38P Substitution - Missense 12:56714645-56714645 - SJHGG068_A COSM4971310 c.1141G>A p.V381I Substitution - Missense 12:56720389-56720389 - HCC54 COSM1606405 c.518T>G p.I173R Substitution - Missense 12:56721012-56721012 - RH30SJ_ COSM4985433 c.3727A>C p.T1243P Substitution - Missense 12:56717803-56717803 - PCSI_0004_Pa_P_526 COSM1987746 c.3696G>A p.L1232L Substitution - coding silent 12:56717834-56717834 - TCGA-BG-A0MQ-01 COSM941812 c.53A>T p.Q18L Substitution - Missense 12:56724469-56724469 - PD3945a COSM219263 c.5702T>C p.L1901P Substitution - Missense 12:56714645-56714645 - 1004 COSM4209587 c.3779C>A p.P1260H Substitution - Missense 12:56717751-56717751 - TCGA-BS-A0UV-01 COSM941803 c.6161C>T p.S2054L Substitution - Missense 12:56712847-56712847 - CSCC-20-T COSM4448381 c.3818_3819CC>TT p.S1273F Substitution - Missense 12:56717711-56717712 - 8068554 COSM4387922 c.1024G>C p.D342H Substitution - Missense 12:56720506-56720506 - 19M COSM5579043 c.5343C>T p.V1781V Substitution - coding silent 12:56716187-56716187 - CSCC-49-T COSM4471720 c.1738C>G p.P580A Substitution - Missense 12:56719792-56719792 - 2492725 COSM5725441 c.3750C>T p.S1250S Substitution - coding silent 12:56717780-56717780 - UPCI:SCC090 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - WSU-HN12 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - CSCC-17-T COSM4458902 c.1103C>T p.P368L Substitution - Missense 12:56720427-56720427 - HCC95T COSM1606400 c.3375A>C p.A1125A Substitution - coding silent 12:56718155-56718155 - CSCC-16-T COSM4446621 c.4649C>T p.P1550L Substitution - Missense 12:56716881-56716881 - CSCC-19-T COSM4446638 c.2449C>T p.P817S Substitution - Missense 12:56719081-56719081 - 2492721 COSM5721982 c.4026C>T p.S1342S Substitution - coding silent 12:56717504-56717504 - TCGA-D1-A103-01 COSM1586632 c.4592C>T p.A1531V Substitution - Missense 12:56716938-56716938 - CSCC-16-T COSM4446630 c.3193C>T p.P1065S Substitution - Missense 12:56718337-56718337 - CPCG0369-F1 COSM3719744 c.3775C>T p.P1259S Substitution - Missense 12:56717755-56717755 - CSCC-18-T COSM4446626 c.3640C>T p.P1214S Substitution - Missense 12:56717890-56717890 - AML_14y_06_DX COSM1987738 c.3798C>T p.P1266P Substitution - coding silent 12:56717732-56717732 - PTC-28C COSM1987792 c.2919A>C p.P973P Substitution - coding silent 12:56718611-56718611 - S01578 COSM5670285 c.1638A>T p.P546P Substitution - coding silent 12:56719892-56719892 - WSU-HN12 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - PTC-54C COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - CSCC-31-T COSM4446637 c.2843C>T p.P948L Substitution - Missense 12:56718687-56718687 - TCGA-EJ-5542-01 COSM3782750 c.3249A>G p.P1083P Substitution - coding silent 12:56718281-56718281 - WSU-HN6 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - YUKAT COSM5375658 c.5875A>C p.I1959L Substitution - Missense 12:56713632-56713632 - BCM723T COSM4956401 c.5718C>T p.S1906S Substitution - coding silent 12:56714629-56714629 - RMS77_ COSM4985433 c.3727A>C p.T1243P Substitution - Missense 12:56717803-56717803 - TCGA-HI-7169-01 COSM3782749 c.3402C>T p.P1134P Substitution - coding silent 12:56718128-56718128 - PTC-88C COSM1606400 c.3375A>C p.A1125A Substitution - coding silent 12:56718155-56718155 - TCGA-DK-A1AC-01 COSM1299693 c.181G>A p.E61K Substitution - Missense 12:56714415-56714415 - TCGA-BS-A0UV-01 COSM941801 c.6215C>T p.A2072V Substitution - Missense 12:56712793-56712793 - 2492706 COSM4209594 c.3225C>T p.S1075S Substitution - coding silent 12:56718305-56718305 - ML_28_T_01 COSM1987761 c.3382A>C p.T1128P Substitution - Missense 12:56718148-56718148 - BICR_22 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - WA42 COSM237808 c.3306C>T p.A1102A Substitution - coding silent 12:56718224-56718224 - PCSI_0357_Pa_P_5263 COSM4806573 c.3227T>C p.L1076P Substitution - Missense 12:56718303-56718303 - TCGA-G9-6496-01 COSM1128524 c.177T>C p.I59I Substitution - coding silent 12:56714419-56714419 - sysucc-311T COSM5478322 c.1153C>T p.P385S Substitution - Missense 12:56720377-56720377 - TCGA-E2-A158-01 COSM5832084 c.4414C>A p.P1472T Substitution - Missense 12:56717116-56717116 - TCGA-D5-6928-01 COSM941801 c.6215C>T p.A2072V Substitution - Missense 12:56712793-56712793 - YUKAT COSM5375660 c.541C>T p.P181S Substitution - Missense 12:56720989-56720989 - TCGA-KK-A6E3-01 COSM4209594 c.3225C>T p.S1075S Substitution - coding silent 12:56718305-56718305 - CSCC-31-T COSM4446636 c.2916C>T p.S972S Substitution - coding silent 12:56718614-56718614 - SC_9029 COSM5569031 c.3028A>C p.T1010P Substitution - Missense 12:56718502-56718502 - AML_14y_03_DX COSM4209597 c.2892A>C p.T964T Substitution - coding silent 12:56718638-56718638 - TCGA-74-6577-01 COSM3398909 c.5803A>G p.S1935G Substitution - Missense 12:56714382-56714382 - PD24199a COSM5797005 c.5898C>T p.L1966L Substitution - coding silent 12:56713609-56713609 - PT38 COSM5922988 c.247C>T p.P83S Substitution - Missense 12:56721283-56721283 - 19M COSM5579041 c.4354C>T p.P1452S Substitution - Missense 12:56717176-56717176 - 2492723 COSM5721982 c.4026C>T p.S1342S Substitution - coding silent 12:56717504-56717504 - 2492730 COSM5729742 c.3278G>A p.G1093D Substitution - Missense 12:56718252-56718252 - CN-AML-CR-39-Dx COSM1606400 c.3375A>C p.A1125A Substitution - coding silent 12:56718155-56718155 - TCGA-D1-A17Q-01 COSM941805 c.5966C>T p.A1989V Substitution - Missense 12:56713541-56713541 - CSCC-20-T COSM4506560 c.723C>T p.I241I Substitution - coding silent 12:56720807-56720807 - TCGA-AX-A0J1-01 COSM1586609 c.241C>T p.P81S Substitution - Missense 12:56721289-56721289 - TCGA-D1-A101-01 COSM941808 c.193A>G p.S65G Substitution - Missense 12:56714403-56714403 - PTC-70C COSM1606400 c.3375A>C p.A1125A Substitution - coding silent 12:56718155-56718155 - PTC-10C COSM4147308 c.2677C>T p.L893L Substitution - coding silent 12:56718853-56718853 - 35M COSM5581800 c.2643C>T p.P881P Substitution - coding silent 12:56718887-56718887 - WSU-HN30 COSM1987751 c.3641C>A p.P1214H Substitution - Missense 12:56717889-56717889 - PTC-515C COSM4147306 c.3614C>T p.P1205L Substitution - Missense 12:56717916-56717916 - I2L-P7-Tumor-Organoid COSM1987743 c.3762C>T p.G1254G Substitution - coding silent 12:56717768-56717768 - PD24199a COSM5797004 c.309C>T p.L103L Substitution - coding silent 12:56713609-56713609 - TCGA-G9-6496-01 COSM1128525 c.5766T>C p.I1922I Substitution - coding silent 12:56714419-56714419 - I2L-P7-Tumor-Organoid COSM1987745 c.3706T>C p.S1236P Substitution - Missense 12:56717824-56717824 - TCGA-BP-4976-01 COSM3773650 c.3048T>C p.P1016P Substitution - coding silent 12:56718482-56718482 - BCM723T COSM4956400 c.129C>T p.S43S Substitution - coding silent 12:56714629-56714629 - 2492729 COSM5726844 c.1437C>T p.S479S Substitution - coding silent 12:56720093-56720093 - TCGA-BS-A0U7-01 COSM1651265 c.1886C>T p.P629L Substitution - Missense 12:56719644-56719644 - PTC-73C COSM4147307 c.3083T>C p.F1028S Substitution - Missense 12:56718447-56718447 - TCGA-D5-6928-01 COSM941800 c.626C>T p.A209V Substitution - Missense 12:56712793-56712793 - TCGA-A3-3351-01 COSM1135407 c.5857G>T p.G1953* Substitution - Nonsense 12:56713650-56713650 - BCM723T COSM4956401 c.5718C>T p.S1906S Substitution - coding silent 12:56714629-56714629 - RW2982 COSM4649516 c.2128G>A p.V710M Substitution - Missense 12:56719402-56719402 - DLD1 COSM1987801 c.2705C>T p.T902I Substitution - Missense 12:56718825-56718825 - B105-0-Tumor COSM1747159 c.67A>C p.T23P Substitution - Missense 12:56724455-56724455 - HCC45T COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - TCGA-A8-A06P-01 COSM431542 c.64G>A p.E22K Substitution - Missense 12:56724458-56724458 - RK261_C02 COSM4943978 c.2345C>T p.S782F Substitution - Missense 12:56719185-56719185 - HCC9T COSM347008 c.90C>T p.D30D Substitution - coding silent 12:56714668-56714668 - TCGA-AP-A0L8-01 COSM941810 c.133delC p.Q45fs*77 Deletion - Frameshift 12:56714625-56714625 - ESCC_142 COSM5643685 c.475_478delACTT p.T159fs*7 Deletion - Frameshift 12:56721052-56721055 - HCC9 COSM347008 c.90C>T p.D30D Substitution - coding silent 12:56714668-56714668 - RK195_C01 COSM3739793 c.415C>G p.L139V Substitution - Missense 12:56721115-56721115 - TCGA-CG-5721-01 COSM4043719 c.5924A>G p.Y1975C Substitution - Missense 12:56713583-56713583 - PCSI_0594_Pa_P_526 COSM5761053 c.290G>A p.R97Q Substitution - Missense 12:56713628-56713628 - sysucc-1171T COSM1987792 c.2919A>C p.P973P Substitution - coding silent 12:56718611-56718611 - PTC_285 COSM5959049 c.4671_4673delCCC p.P1558delP Deletion - In frame 12:56716857-56716859 - TCGA-13-1481-01 COSM4947692 c.5973C>G p.I1991M Substitution - Missense 12:56713188-56713188 - LUAD-S01413 COSM347009 c.5679C>T p.D1893D Substitution - coding silent 12:56714668-56714668 - TCGA-G9-7519-01 COSM3782749 c.3402C>T p.P1134P Substitution - coding silent 12:56718128-56718128 - PTC-70C COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - CSCC-10-T COSM4446629 c.3263C>T p.P1088L Substitution - Missense 12:56718267-56718267 - TCGA-BS-A0UJ-01 COSM1586629 c.2348C>A p.S783Y Substitution - Missense 12:56719182-56719182 - HCC9T COSM347009 c.5679C>T p.D1893D Substitution - coding silent 12:56714668-56714668 - CSCC-31-T COSM4475611 c.5461C>T p.P1821S Substitution - Missense 12:56716069-56716069 - TCGA-EJ-7794-01 COSM3782749 c.3402C>T p.P1134P Substitution - coding silent 12:56718128-56718128 - 2492705 COSM4209594 c.3225C>T p.S1075S Substitution - coding silent 12:56718305-56718305 - TCGA-AP-A0L8-01 COSM941811 c.5722delC p.Q1908fs*77 Deletion - Frameshift 12:56714625-56714625 - CSCC-55-T COSM4446631 c.3105C>T p.P1035P Substitution - coding silent 12:56718425-56718425 - ESO-721 COSM1258666 c.550G>C p.V184L Substitution - Missense 12:56712869-56712869 - M006 COSM1739882 c.4727C>A p.S1576Y Substitution - Missense 12:56716803-56716803 - PD3945a COSM219262 c.113T>C p.L38P Substitution - Missense 12:56714645-56714645 - 61 COSM5739691 c.582G>T p.K194N Substitution - Missense 12:56712837-56712837 - WSU-HN6 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - PD3945a COSM219263 c.5702T>C p.L1901P Substitution - Missense 12:56714645-56714645 - SJBALL021305_D1 COSM4994031 c.6043A>G p.N2015D Substitution - Missense 12:56713118-56713118 - SCC-9 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - TCGA-BS-A0UV-01 COSM1586611 c.655C>T p.P219S Substitution - Missense 12:56720875-56720875 - SCC-25 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - TCGA-AD-5900-01 COSM4948640 c.672A>G p.Q224Q Substitution - coding silent 12:56720858-56720858 - QC2-39-T2 COSM5655699 c.2610G>A p.V870V Substitution - coding silent 12:56718920-56718920 - sysucc-311T COSM5478320 c.1682C>T p.P561L Substitution - Missense 12:56719848-56719848 - CSCC-52-T COSM4446627 c.3542C>T p.S1181F Substitution - Missense 12:56717988-56717988 - 12P3 COSM3733616 c.910delT p.S304fs*20 Deletion - Frameshift 12:56720620-56720620 - UD-SCC-2 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - PTC-515C COSM4147304 c.4077C>A p.G1359G Substitution - coding silent 12:56717453-56717453 - UD-SCC-2 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - TCGA-EA-A4BA-01 COSM4848100 c.5078C>G p.T1693R Substitution - Missense 12:56716452-56716452 - PD5163a COSM3719744 c.3775C>T p.P1259S Substitution - Missense 12:56717755-56717755 - BD72T COSM5512912 c.2526_2529delTTTC p.F843fs*27 Deletion - Frameshift 12:56719001-56719004 - Pat_15_B COSM5841562 c.59A>G p.Q20R Substitution - Missense 12:56724463-56724463 - HCC2998 COSM1987827 c.1835T>C p.L612P Substitution - Missense 12:56719695-56719695 - 2530678 COSM5885542 c.3064A>G p.S1022G Substitution - Missense 12:56718466-56718466 - PT36 COSM5916249 c.884C>T p.P295L Substitution - Missense 12:56720646-56720646 - 2290930 COSM3782749 c.3402C>T p.P1134P Substitution - coding silent 12:56718128-56718128 - BHY COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - 40M COSM5585876 c.3035C>T p.P1012L Substitution - Missense 12:56718495-56718495 - HCT8 COSM1987801 c.2705C>T p.T902I Substitution - Missense 12:56718825-56718825 - PTC-515C COSM1987752 c.3637T>C p.S1213P Substitution - Missense 12:56717893-56717893 - CSCC-60-T COSM4504109 c.656C>T p.P219L Substitution - Missense 12:56720874-56720874 - SCC-15 COSM1606401 c.3366C>A p.H1122Q Substitution - Missense 12:56718164-56718164 - UM-SCC-4 COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - HT115 COSM1987845 c.1412C>T p.P471L Substitution - Missense 12:56720118-56720118 - TCGA-B5-A0K9-01 COSM1651264 c.1346T>G p.I449S Substitution - Missense 12:56720184-56720184 - TCGA-CD-5813-01 COSM4043713 c.5972T>C p.I1991T Substitution - Missense 12:56713189-56713189 - T10 COSM1128525 c.5766T>C p.I1922I Substitution - coding silent 12:56714419-56714419 - 49M COSM5592040 c.3023C>T p.A1008V Substitution - Missense 12:56718507-56718507 - LUAD-S01413 COSM347008 c.90C>T p.D30D Substitution - coding silent 12:56714668-56714668 - AML_14y_06_DX COSM5956758 c.3175A>C p.T1059P Substitution - Missense 12:56718355-56718355 - CSCC-31-T COSM4446622 c.4577C>T p.P1526L Substitution - Missense 12:56716953-56716953 - TCGA-CJ-4920-01 COSM3359850 c.645C>G p.H215Q Substitution - Missense 12:56720885-56720885 - TCGA-AA-3672-01 COSM266997 c.6070A>C p.T2024P Substitution - Missense 12:56713091-56713091 - TCGA-B7-5816-01 COSM4043710 c.6162G>T p.S2054S Substitution - coding silent 12:56712846-56712846 - TCGA-B8-5159-01 COSM3359849 c.5217C>T p.L1739L Substitution - coding silent 12:56716313-56716313 - SJACT019_D COSM4968641 c.636_642delTCCTTAC p.P213fs*3 Deletion - Frameshift 12:56720888-56720894 - 1862877 COSM1180646 c.6133G>C p.E2045Q Substitution - Missense 12:56712875-56712875 - TCGA-AP-A059-01 COSM1586628 c.2261T>G p.I754S Substitution - Missense 12:56719269-56719269 - I2L-P19Tb-Tumor-Organoid COSM5361650 c.3900C>T p.G1300G Substitution - coding silent 12:56717630-56717630 - NOKSI COSM4596093 c.4034G>A p.G1345E Substitution - Missense 12:56717496-56717496 - SJACT005_D COSM4968015 c.1139C>A p.S380Y Substitution - Missense 12:56720391-56720391 - TCGA-B5-A0JY-01 COSM1586619 c.990T>G p.A330A Substitution - coding silent 12:56720540-56720540 - CSCC-20-T COSM4448112 c.3866_3867CC>TT p.P1289L Substitution - Missense 12:56717663-56717664 - WSU-HN13 COSM4596650 c.3752C>T p.P1251L Substitution - Missense 12:56717778-56717778 - PCSI_0594_Pa_P_526 COSM5761054 c.5879G>A p.R1960Q Substitution - Missense 12:56713628-56713628 - TCGA-BG-A0MQ-01 COSM941813 c.53A>T p.Q18L Substitution - Missense 12:56724469-56724469 - TCGA-61-2109-01 COSM119016 c.234+2T>A p.? Unknown 12:56714360-56714360 - CRC-22T COSM5453072 c.1214T>C p.F405S Substitution - Missense 12:56720316-56720316 - 93VU147T COSM3746313 c.3365A>C p.H1122P Substitution - Missense 12:56718165-56718165 - TCGA-CM-6171-01 COSM4784361 c.5504C>T p.A1835V Substitution - Missense 12:56716026-56716026 - BCM723T COSM4956400 c.129C>T p.S43S Substitution - coding silent 12:56714629-56714629 - AML_14y_06_DX COSM5956770 c.3419T>C p.L1140P Substitution - Missense 12:56718111-56718111 - TCGA-AA-3672-01 COSM266996 c.481A>C p.T161P Substitution - Missense 12:56713091-56713091 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.505735 12q23-q24.1 601234

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I449S c.1346T>G 12 57113968 UCEC A C Missense p.V497G c.1490T>G 12 57113824 STAD A G IntronicSNV . c.1864+1055T>C 12 57112266 RCCC A G IntronicSNV . c.1864+1299T>C 12 57112022 ESCA A G Missense p.I838T c.2513T>C 12 57106973 STAD A G Synonymous p.G318G c.954T>C 12 57114360 CM A T IntronicSNV . c.1864+191T>A 12 57113130 RCCC A T SpliceDonorSNV . c.2364+2T>A 12 57108144 OV C A Synonymous p.R787R c.2361G>T 12 57108149 HNSC C A Synonymous p.S901S c.2703G>T 12 57106630 STAD C G Missense p.E875D c.2625G>C 12 57106861 HNSC C G Missense p.E892Q c.2674G>C 12 57106659 HNSC C G Missense p.G262R c.784G>C 12 57114530 ESCA C G Missense p.G88A c.263G>C 12 57115051 BRCA C G Missense p.V894L c.2680G>C 12 57106653 ESCA C G Missense p.V900L c.2698G>C 12 57106635 LUAD C T IntronicSNV . c.1864+1310G>A 12 57112011 CM C T IntronicSNV . c.1865-1567G>A 12 57111557 CM C T Missense p.E22K c.64G>A 12 57118242 BRCA C T Missense p.M921I c.2763G>A 12 57106570 HNSC C T Synonymous p.E492E c.1476G>A 12 57113838 CM C T Synonymous p.L909L c.2727G>A 12 57106606 HNSC G A IntronicSNV . c.1805-48C>T 12 57113428 UCEC G A IntronicSNV . c.1864+1163C>T 12 57112158 CM G A IntronicSNV . c.1864+1342C>T 12 57111979 CM G A IntronicSNV . c.1864+1407C>T 12 57111914 OV G A IntronicSNV . c.1864+1577C>T 12 57111744 CM G A IntronicSNV . c.1864+1578C>T 12 57111743 CM G A IntronicSNV . c.1864+1646C>T 12 57111675 CM G A IntronicSNV . c.1865-107C>T 12 57110097 RCCC G A IntronicSNV . c.1865-1161C>T 12 57111151 CM G A IntronicSNV . c.1865-1297C>T 12 57111287 CM G A IntronicSNV . c.1865-1314C>T 12 57111304 STAD G A IntronicSNV . c.1865-1320C>T 12 57111310 CM G A IntronicSNV . c.1865-1375C>T 12 57111365 CM G A IntronicSNV . c.1865-1423C>T 12 57111413 CM G A IntronicSNV . c.1865-1527C>T 12 57111517 CM G A IntronicSNV . c.1865-406C>T 12 57110396 CM G A IntronicSNV . c.1865-605C>T 12 57110595 CM G A IntronicSNV . c.2511+149C>T 12 57107172 CM G A Missense p.L283F c.847C>T 12 57114467 BRCA G A Missense p.P178S c.532C>T 12 57114782 CM G A Missense p.P219L c.656C>T 12 57114658 CM G A Missense p.P692S c.2074C>T 12 57109781 CM G A Missense p.S112F c.335C>T 12 57114979 CM G A Synonymous p.A141A c.423C>T 12 57114891 CM G A Synonymous p.L706L c.2118C>T 12 57109737 CM G A Synonymous p.T338T c.1014C>T 12 57114300 CM G A Synonymous p.V9V c.27C>T 12 57118279 CM G C IntronicSNV . c.1865-1318C>G 12 57111308 STAD G C IntronicSNV . c.1865-906C>G 12 57110896 CM G C Missense p.H215Q c.645C>G 12 57114669 RCCC G C Missense p.I838M c.2514C>G 12 57106972 OV G C Synonymous p.T721T c.2163C>G 12 57109692 CM G C Synonymous p.V860V c.2580C>G 12 57106906 HNSC G - Frameshift p.Q755Rfs*77 c.2263delC 12 57108409 UCEC G T IntronicSNV . c.1864+1451C>A 12 57111870 STAD G T IntronicSNV . c.1865-816C>A 12 57110806 ESCA G T IntronicSNV . c.1865-910C>A 12 57110900 BRCA G T Missense p.P47H c.140C>A 12 57115174 OV G T Missense p.T619N c.1856C>A 12 57113329 UCEC T A Missense p.Q18L c.53A>T 12 57118253 UCEC T C Missense p.S329G c.985A>G 12 57114329 STAD T C Missense p.S782G c.2344A>G 12 57108166 GBM T C Synonymous p.P113P c.339A>G 12 57114975 STAD T C Synonymous p.S134S c.402A>G 12 57114912 STAD TGC - InFrameDeletion p.A452delA c.1354_1356delGCA 12 57113958 STAD T - IntronicDeletion . c.1864+1372delA 12 57111949 BRCA