Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 190333285 190333285 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr2:190333285G>A c.1713G>A c.(1711-1713)ctG>ctA p.L571L BLCA 2 190334822 190334822 + Missense_Mutation SNP G G A TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr2:190334822G>A c.1840G>A c.(1840-1842)Gag>Aag p.E614K BLCA 2 190334854 190334854 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr2:190334854C>G c.1872C>G c.(1870-1872)atC>atG p.I624M BLCA 2 190338996 190338996 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr2:190338996G>A c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K BRCA 2 190306223 190306223 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr2:190306223T>G c.5T>G c.(4-6)gTg>gGg p.V2G BRCA 2 190323496 190323496 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr2:190323496C>G c.587C>G c.(586-588)tCa>tGa p.S196* BRCA 2 190332305 190332305 + Missense_Mutation SNP T T C TCGA-AR-A0U2-01A-11D-A10G-09 TCGA-AR-A0U2-10A-01D-A10G-09 g.chr2:190332305T>C c.1559T>C c.(1558-1560)aTa>aCa p.I520T CESC 2 190324117 190324117 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr2:190324117G>C c.745G>C c.(745-747)Gat>Cat p.D249H CESC 2 190328666 190328666 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr2:190328666G>C c.1092G>C c.(1090-1092)caG>caC p.Q364H CESC 2 190329969 190329969 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr2:190329969G>A c.1278G>A c.(1276-1278)aaG>aaA p.K426K COAD 2 190315636 190315636 + Missense_Mutation SNP C C G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr2:190315636C>G c.224C>G c.(223-225)tCt>tGt p.S75C COAD 2 190327259 190327259 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:190327259C>T c.828C>T c.(826-828)cgC>cgT p.R276R COAD 2 190329838 190329838 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:190329838T>G c.1147T>G c.(1147-1149)Tat>Gat p.Y383D COAD 2 190332278 190332278 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:190332278C>A c.1532C>A c.(1531-1533)tCt>tAt p.S511Y COAD 2 190332278 190332278 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:190332278C>T c.1532C>T c.(1531-1533)tCt>tTt p.S511F COAD 2 190332358 190332358 + Nonsense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:190332358C>T c.1612C>T c.(1612-1614)Cga>Tga p.R538* COAD 2 190333287 190333287 + Missense_Mutation SNP G G A TCGA-AA-3856-01A-01W-0900-09 TCGA-AA-3856-10A-01W-0900-09 g.chr2:190333287G>A c.1715G>A c.(1714-1716)aGc>aAc p.S572N COAD 2 190339474 190339474 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:190339474C>A c.2228C>A c.(2227-2229)tCt>tAt p.S743Y COAD 2 190339475 190339475 + Silent SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr2:190339475T>C c.2229T>C c.(2227-2229)tcT>tcC p.S743S COAD 2 190340031 190340031 + Missense_Mutation SNP A A G TCGA-AD-6899-01A-11D-1924-10 TCGA-AD-6899-10A-01D-1924-10 g.chr2:190340031A>G c.2381A>G c.(2380-2382)gAt>gGt p.D794G COAD 2 190340031 190340031 + Missense_Mutation SNP A A G TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr2:190340031A>G c.2381A>G c.(2380-2382)gAt>gGt p.D794G COAD 2 190340092 190340092 + Silent SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:190340092A>G c.2442A>G c.(2440-2442)aaA>aaG p.K814K COADREAD 2 190313193 190313193 + Silent SNP C C T TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr2:190313193C>T c.175C>T c.(175-177)Ctg>Ttg p.L59L COADREAD 2 190315636 190315636 + Missense_Mutation SNP C C G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr2:190315636C>G c.224C>G c.(223-225)tCt>tGt p.S75C COADREAD 2 190327259 190327259 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:190327259C>T c.828C>T c.(826-828)cgC>cgT p.R276R COADREAD 2 190329838 190329838 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:190329838T>G c.1147T>G c.(1147-1149)Tat>Gat p.Y383D COADREAD 2 190332278 190332278 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:190332278C>A c.1532C>A c.(1531-1533)tCt>tAt p.S511Y COADREAD 2 190332278 190332278 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:190332278C>T c.1532C>T c.(1531-1533)tCt>tTt p.S511F COADREAD 2 190332358 190332358 + Nonsense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:190332358C>T c.1612C>T c.(1612-1614)Cga>Tga p.R538* COADREAD 2 190333287 190333287 + Missense_Mutation SNP G G A TCGA-AA-3856-01A-01W-0900-09 TCGA-AA-3856-10A-01W-0900-09 g.chr2:190333287G>A c.1715G>A c.(1714-1716)aGc>aAc p.S572N COADREAD 2 190339474 190339474 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:190339474C>A c.2228C>A c.(2227-2229)tCt>tAt p.S743Y COADREAD 2 190339475 190339475 + Silent SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr2:190339475T>C c.2229T>C c.(2227-2229)tcT>tcC p.S743S COADREAD 2 190340031 190340031 + Missense_Mutation SNP A A G TCGA-AD-6899-01A-11D-1924-10 TCGA-AD-6899-10A-01D-1924-10 g.chr2:190340031A>G c.2381A>G c.(2380-2382)gAt>gGt p.D794G COADREAD 2 190340031 190340031 + Missense_Mutation SNP A A G TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr2:190340031A>G c.2381A>G c.(2380-2382)gAt>gGt p.D794G COADREAD 2 190340092 190340092 + Silent SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:190340092A>G c.2442A>G c.(2440-2442)aaA>aaG p.K814K ESCA 2 190320168 190320168 + Nonsense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr2:190320168G>T c.496G>T c.(496-498)Gag>Tag p.E166* ESCA 2 190340080 190340080 + Missense_Mutation SNP A A C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr2:190340080A>C c.2430A>C c.(2428-2430)aaA>aaC p.K810N GBM 2 190313200 190313200 + Missense_Mutation SNP C C T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr2:190313200C>T c.182C>T c.(181-183)aCt>aTt p.T61I GBMLGG 2 190313123 190313123 + Silent SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 g.chr2:190313123T>C c.105T>C c.(103-105)tcT>tcC p.S35S GBMLGG 2 190313200 190313200 + Missense_Mutation SNP C C T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr2:190313200C>T c.182C>T c.(181-183)aCt>aTt p.T61I GBMLGG 2 190316559 190316559 + Missense_Mutation SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 g.chr2:190316559C>T c.311C>T c.(310-312)gCc>gTc p.A104V GBMLGG 2 190327287 190327287 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:190327287C>A c.856C>A c.(856-858)Ctc>Atc p.L286I GBMLGG 2 190331306 190331306 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:190331306A>G c.1445A>G c.(1444-1446)tAc>tGc p.Y482C GBMLGG 2 190338996 190338996 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:190338996G>A c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K GBMLGG 2 190340124 190340124 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:190340124G>A c.2474G>A c.(2473-2475)aGc>aAc p.S825N HNSC 2 190332193 190332194 + Splice_Site INS - - A TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr2:190332193_190332194insA c.e14-1 HNSC 2 190332307 190332307 + Missense_Mutation SNP G G A TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr2:190332307G>A c.1561G>A c.(1561-1563)Gtc>Atc p.V521I KIPAN 2 190324065 190324065 + Silent SNP G G A TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr2:190324065G>A c.693G>A c.(691-693)agG>agA p.R231R KIRC 2 190324065 190324065 + Silent SNP G G A TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr2:190324065G>A c.693G>A c.(691-693)agG>agA p.R231R LGG 2 190313123 190313123 + Silent SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 g.chr2:190313123T>C c.105T>C c.(103-105)tcT>tcC p.S35S LGG 2 190316559 190316559 + Missense_Mutation SNP C C T TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 g.chr2:190316559C>T c.311C>T c.(310-312)gCc>gTc p.A104V LGG 2 190327287 190327287 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:190327287C>A c.856C>A c.(856-858)Ctc>Atc p.L286I LGG 2 190331306 190331306 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:190331306A>G c.1445A>G c.(1444-1446)tAc>tGc p.Y482C LGG 2 190338996 190338996 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:190338996G>A c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K LGG 2 190340124 190340124 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:190340124G>A c.2474G>A c.(2473-2475)aGc>aAc p.S825N LUAD 2 190315685 190315685 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr2:190315685C>T c.273C>T c.(271-273)atC>atT p.I91I LUAD 2 190323581 190323581 + Missense_Mutation SNP T T A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:190323581T>A c.672T>A c.(670-672)gaT>gaA p.D224E LUAD 2 190323582 190323582 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:190323582G>T c.673G>T c.(673-675)Ggc>Tgc p.G225C LUAD 2 190328594 190328594 + Missense_Mutation SNP G G C TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr2:190328594G>C c.1020G>C c.(1018-1020)ttG>ttC p.L340F LUAD 2 190334125 190334125 + Silent SNP G G A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr2:190334125G>A c.1779G>A c.(1777-1779)gaG>gaA p.E593E LUAD 2 190334801 190334801 + Splice_Site SNP G G A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr2:190334801G>A c.e17-1 LUAD 2 190334847 190334848 + Frame_Shift_Ins INS - - G TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr2:190334847_190334848insG c.1865_1866insG c.(1864-1869)aagggtfs p.KG622fs LUAD 2 190335579 190335579 + Missense_Mutation SNP A A G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 g.chr2:190335579A>G c.2024A>G c.(2023-2025)gAa>gGa p.E675G LUAD 2 190339500 190339500 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr2:190339500G>T c.2254G>T c.(2254-2256)Gta>Tta p.V752L LUAD 2 190339976 190339976 + Missense_Mutation SNP G G A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 g.chr2:190339976G>A c.2326G>A c.(2326-2328)Gaa>Aaa p.E776K LUAD 2 190340070 190340070 + Missense_Mutation SNP A A G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:190340070A>G c.2420A>G c.(2419-2421)cAg>cGg p.Q807R LUAD 2 190340074 190340074 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:190340074delG c.2424delG c.(2422-2424)ttgfs p.L808fs LUSC 2 190331241 190331241 + Silent SNP C C G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr2:190331241C>G c.1380C>G c.(1378-1380)acC>acG p.T460T LUSC 2 190331263 190331263 + Missense_Mutation SNP G G A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr2:190331263G>A c.1402G>A c.(1402-1404)Ggt>Agt p.G468S LUSC 2 190335583 190335583 + Missense_Mutation SNP A A C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr2:190335583A>C c.2028A>C c.(2026-2028)aaA>aaC p.K676N LUSC 2 190340027 190340027 + Missense_Mutation SNP C C G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr2:190340027C>G c.2377C>G c.(2377-2379)Cag>Gag p.Q793E OV 2 190327258 190327258 + Missense_Mutation SNP G G A TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 g.chr2:190327258G>A c.827G>A c.(826-828)cGc>cAc p.R276H OV 2 190339474 190339474 + Missense_Mutation SNP C C G TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 g.chr2:190339474C>G c.2228C>G c.(2227-2229)tCt>tGt p.S743C OV 2 190340030 190340030 + Missense_Mutation SNP G G C TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 g.chr2:190340030G>C c.2380G>C c.(2380-2382)Gat>Cat p.D794H PRAD 2 190315668 190315668 + Missense_Mutation SNP G G T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 g.chr2:190315668G>T c.256G>T c.(256-258)Gac>Tac p.D86Y READ 2 190313193 190313193 + Silent SNP C C T TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr2:190313193C>T c.175C>T c.(175-177)Ctg>Ttg p.L59L SARC 2 190327331 190327368 + Splice_Site DEL TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA - TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 g.chr2:190327331_190327368delTGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA c.900_937delTGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA c.(898-939)cctgcaggagatttattctgcacttctcactctgataataag>ccag p.AGDLFCTSHSDNK301fs SKCM 2 190322059 190322059 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr2:190322059G>A c.521G>A c.(520-522)cGg>cAg p.R174Q SKCM 2 190323591 190323591 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr2:190323591C>T c.682C>T c.(682-684)Cgt>Tgt p.R228C SKCM 2 190324142 190324142 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr2:190324142C>T c.770C>T c.(769-771)tCa>tTa p.S257L SKCM 2 190327289 190327289 + Silent SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr2:190327289C>T c.858C>T c.(856-858)ctC>ctT p.L286L SKCM 2 190327291 190327291 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:190327291C>T c.860C>T c.(859-861)cCg>cTg p.P287L SKCM 2 190328438 190328438 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:190328438G>A c.956G>A c.(955-957)cGa>cAa p.R319Q SKCM 2 190328664 190328664 + Nonsense_Mutation SNP C C T TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr2:190328664C>T c.1090C>T c.(1090-1092)Cag>Tag p.Q364* SKCM 2 190332266 190332266 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr2:190332266C>T c.1520C>T c.(1519-1521)tCc>tTc p.S507F SKCM 2 190334817 190334817 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr2:190334817C>T c.1835C>T c.(1834-1836)cCt>cTt p.P612L SKCM 2 190334870 190334870 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr2:190334870C>T c.1888C>T c.(1888-1890)Cag>Tag p.Q630* SKCM 2 190338913 190338913 + Splice_Site SNP T T A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 g.chr2:190338913T>A c.2051T>A c.(2050-2052)cTg>cAg p.L684Q SKCM 2 190340087 190340087 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:190340087G>A c.2437G>A c.(2437-2439)Gaa>Aaa p.E813K

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 2 190320117 190320117 single base substitution T A 3_prime_UTR_variant BLCA-CN 2 190320117 190320117 single base substitution T A downstream_gene_variant BLCA-CN 2 190320117 190320117 single base substitution T A exon_variant BLCA-CN 2 190320117 190320117 single base substitution T A missense_variant F149I 445T>A BLCA-US 2 190333285 190333285 single base substitution G A 3_prime_UTR_variant BLCA-US 2 190333285 190333285 single base substitution G A downstream_gene_variant BLCA-US 2 190333285 190333285 single base substitution G A synonymous_variant L571L 1713G>A BLCA-US 2 190334854 190334854 single base substitution C G 3_prime_UTR_variant BLCA-US 2 190334854 190334854 single base substitution C G missense_variant I624M 1872C>G BLCA-US 2 190338996 190338996 single base substitution G A 3_prime_UTR_variant BLCA-US 2 190338996 190338996 single base substitution G A missense_variant E712K 2134G>A BRCA-EU 2 190301345 190301345 single base substitution G C upstream_gene_variant BRCA-EU 2 190301781 190301781 single base substitution G C upstream_gene_variant BRCA-EU 2 190301822 190301822 single base substitution G A upstream_gene_variant BRCA-EU 2 190302755 190302755 single base substitution G C upstream_gene_variant BRCA-EU 2 190303212 190303212 single base substitution T C upstream_gene_variant BRCA-EU 2 190303850 190303850 single base substitution C A upstream_gene_variant BRCA-EU 2 190307570 190307570 deletion of <=200bp A - intron_variant BRCA-EU 2 190308156 190308156 single base substitution G C intron_variant BRCA-EU 2 190308566 190308566 single base substitution A T intron_variant BRCA-EU 2 190309765 190309765 single base substitution T G intron_variant BRCA-EU 2 190309955 190309955 single base substitution T C intron_variant BRCA-EU 2 190310576 190310600 deletion of <=200bp AGAAAACGTGTTCTATGTAGATAGC - intron_variant BRCA-EU 2 190313456 190313456 single base substitution T A intron_variant BRCA-EU 2 190313843 190313843 single base substitution G C intron_variant BRCA-EU 2 190314265 190314265 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 2 190314265 190314265 deletion of <=200bp A - intron_variant BRCA-EU 2 190315731 190315731 single base substitution A T intron_variant BRCA-EU 2 190317424 190317424 single base substitution G A downstream_gene_variant BRCA-EU 2 190317424 190317424 single base substitution G A intron_variant BRCA-EU 2 190317604 190317604 single base substitution G A downstream_gene_variant BRCA-EU 2 190317604 190317604 single base substitution G A intron_variant BRCA-EU 2 190320036 190320036 single base substitution C T downstream_gene_variant BRCA-EU 2 190320036 190320036 single base substitution C T intron_variant BRCA-EU 2 190322195 190322195 single base substitution A G downstream_gene_variant BRCA-EU 2 190322195 190322195 single base substitution A G intron_variant BRCA-EU 2 190323117 190323117 single base substitution C G downstream_gene_variant BRCA-EU 2 190323117 190323117 single base substitution C G intron_variant BRCA-EU 2 190323117 190323117 single base substitution C G upstream_gene_variant BRCA-EU 2 190323335 190323335 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 190323335 190323335 insertion of <=200bp - A intron_variant BRCA-EU 2 190323335 190323335 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 190325407 190325407 single base substitution T A intron_variant BRCA-EU 2 190325407 190325407 single base substitution T A upstream_gene_variant BRCA-EU 2 190325894 190325894 single base substitution G C intron_variant BRCA-EU 2 190325894 190325894 single base substitution G C upstream_gene_variant BRCA-EU 2 190325931 190325931 single base substitution A T intron_variant BRCA-EU 2 190325931 190325931 single base substitution A T upstream_gene_variant BRCA-EU 2 190327473 190327473 single base substitution G A intron_variant BRCA-EU 2 190328966 190328966 single base substitution G A downstream_gene_variant BRCA-EU 2 190328966 190328966 single base substitution G A intron_variant BRCA-EU 2 190329211 190329211 single base substitution G C downstream_gene_variant BRCA-EU 2 190329211 190329211 single base substitution G C intron_variant BRCA-EU 2 190329499 190329499 single base substitution G C downstream_gene_variant BRCA-EU 2 190329499 190329499 single base substitution G C intron_variant BRCA-EU 2 190329504 190329504 single base substitution G C downstream_gene_variant BRCA-EU 2 190329504 190329504 single base substitution G C intron_variant BRCA-EU 2 190331682 190331682 single base substitution T A downstream_gene_variant BRCA-EU 2 190331682 190331682 single base substitution T A intron_variant BRCA-EU 2 190334162 190334162 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 190334162 190334162 single base substitution G A missense_variant D606N 1816G>A BRCA-EU 2 190336874 190336874 single base substitution T A intron_variant BRCA-EU 2 190338871 190338871 single base substitution T G intron_variant BRCA-EU 2 190339005 190339005 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 190339005 190339005 single base substitution G C missense_variant E715Q 2143G>C BRCA-EU 2 190342069 190342069 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 190342284 190342284 single base substitution A G downstream_gene_variant BRCA-EU 2 190342669 190342669 single base substitution G C downstream_gene_variant BRCA-FR 2 190329477 190329477 single base substitution C A downstream_gene_variant BRCA-FR 2 190329477 190329477 single base substitution C A intron_variant BRCA-FR 2 190329499 190329499 single base substitution G C downstream_gene_variant BRCA-FR 2 190329499 190329499 single base substitution G C intron_variant BRCA-FR 2 190339005 190339005 single base substitution G C 3_prime_UTR_variant BRCA-FR 2 190339005 190339005 single base substitution G C missense_variant E715Q 2143G>C BRCA-FR 2 190342669 190342669 single base substitution G C downstream_gene_variant BRCA-UK 2 190301345 190301345 single base substitution G C upstream_gene_variant BRCA-UK 2 190301781 190301781 single base substitution G C upstream_gene_variant BRCA-US 2 190306223 190306223 single base substitution T G exon_variant BRCA-US 2 190306223 190306223 single base substitution T G missense_variant V2G 5T>G BRCA-US 2 190323496 190323496 single base substitution C G 3_prime_UTR_variant BRCA-US 2 190323496 190323496 single base substitution C G downstream_gene_variant BRCA-US 2 190323496 190323496 single base substitution C G stop_gained S196* 587C>G BRCA-US 2 190323496 190323496 single base substitution C G upstream_gene_variant BRCA-US 2 190332305 190332305 single base substitution T C 3_prime_UTR_variant BRCA-US 2 190332305 190332305 single base substitution T C downstream_gene_variant BRCA-US 2 190332305 190332305 single base substitution T C missense_variant I520T 1559T>C BTCA-JP 2 190315597 190315597 single base substitution T A 3_prime_UTR_variant BTCA-JP 2 190315597 190315597 single base substitution T A intron_variant BTCA-JP 2 190320058 190320058 single base substitution T C 3_prime_UTR_variant BTCA-JP 2 190320058 190320058 single base substitution T C downstream_gene_variant BTCA-JP 2 190320058 190320058 single base substitution T C exon_variant BTCA-JP 2 190320058 190320058 single base substitution T C missense_variant L129P 386T>C BTCA-JP 2 190323462 190323462 deletion of <=200bp T - downstream_gene_variant BTCA-JP 2 190323462 190323462 deletion of <=200bp T - intron_variant BTCA-JP 2 190323462 190323462 deletion of <=200bp T - upstream_gene_variant BTCA-JP 2 190327281 190327281 single base substitution G A 3_prime_UTR_variant BTCA-JP 2 190327281 190327281 single base substitution G A exon_variant BTCA-JP 2 190327281 190327281 single base substitution G A missense_variant E284K 850G>A BTCA-JP 2 190334937 190334937 single base substitution A G 3_prime_UTR_variant BTCA-JP 2 190334937 190334937 single base substitution A G missense_variant N652S 1955A>G BTCA-JP 2 190339507 190339507 single base substitution C T 3_prime_UTR_variant BTCA-JP 2 190339507 190339507 single base substitution C T missense_variant S754L 2261C>T CESC-US 2 190324117 190324117 single base substitution G C 3_prime_UTR_variant CESC-US 2 190324117 190324117 single base substitution G C downstream_gene_variant CESC-US 2 190324117 190324117 single base substitution G C missense_variant D249H 745G>C CESC-US 2 190324117 190324117 single base substitution G C upstream_gene_variant CESC-US 2 190328666 190328666 single base substitution G C 3_prime_UTR_variant CESC-US 2 190328666 190328666 single base substitution G C exon_variant CESC-US 2 190328666 190328666 single base substitution G C missense_variant Q364H 1092G>C CESC-US 2 190329969 190329969 single base substitution G A 3_prime_UTR_variant CESC-US 2 190329969 190329969 single base substitution G A downstream_gene_variant CESC-US 2 190329969 190329969 single base substitution G A synonymous_variant K426K 1278G>A CLLE-ES 2 190337311 190337311 single base substitution G T intron_variant CLLE-ES 2 190338818 190338818 single base substitution C A intron_variant COAD-US 2 190320083 190320083 single base substitution C A 3_prime_UTR_variant COAD-US 2 190320083 190320083 single base substitution C A downstream_gene_variant COAD-US 2 190320083 190320083 single base substitution C A exon_variant COAD-US 2 190320083 190320083 single base substitution C A synonymous_variant S137S 411C>A COAD-US 2 190327259 190327259 single base substitution C T 3_prime_UTR_variant COAD-US 2 190327259 190327259 single base substitution C T exon_variant COAD-US 2 190327259 190327259 single base substitution C T synonymous_variant R276R 828C>T COAD-US 2 190332358 190332358 single base substitution C T 3_prime_UTR_variant COAD-US 2 190332358 190332358 single base substitution C T downstream_gene_variant COAD-US 2 190332358 190332358 single base substitution C T stop_gained R538* 1612C>T COAD-US 2 190340092 190340092 single base substitution A G 3_prime_UTR_variant COAD-US 2 190340092 190340092 single base substitution A G synonymous_variant K814K 2442A>G COCA-CN 2 190306295 190306295 single base substitution C T exon_variant COCA-CN 2 190306295 190306295 single base substitution C T missense_variant A26V 77C>T COCA-CN 2 190321978 190321978 single base substitution G A downstream_gene_variant COCA-CN 2 190321978 190321978 single base substitution G A intron_variant COCA-CN 2 190321979 190321979 single base substitution A G downstream_gene_variant COCA-CN 2 190321979 190321979 single base substitution A G intron_variant COCA-CN 2 190327126 190327126 single base substitution C G intron_variant COCA-CN 2 190327126 190327126 single base substitution C G upstream_gene_variant COCA-CN 2 190329912 190329912 single base substitution G T 3_prime_UTR_variant COCA-CN 2 190329912 190329912 single base substitution G T downstream_gene_variant COCA-CN 2 190329912 190329912 single base substitution G T missense_variant Q407H 1221G>T COCA-CN 2 190331147 190331147 single base substitution C T downstream_gene_variant COCA-CN 2 190331147 190331147 single base substitution C T splice_region_variant COCA-CN 2 190335533 190335533 single base substitution C A intron_variant COCA-CN 2 190338995 190338995 single base substitution C T 3_prime_UTR_variant COCA-CN 2 190338995 190338995 single base substitution C T synonymous_variant N711N 2133C>T COCA-CN 2 190339483 190339483 single base substitution T C 3_prime_UTR_variant COCA-CN 2 190339483 190339483 single base substitution T C missense_variant F746S 2237T>C ESAD-UK 2 190301757 190301757 single base substitution A G upstream_gene_variant ESAD-UK 2 190302616 190302616 single base substitution A G upstream_gene_variant ESAD-UK 2 190304801 190304801 single base substitution A C upstream_gene_variant ESAD-UK 2 190305594 190305594 single base substitution A C upstream_gene_variant ESAD-UK 2 190310585 190310585 single base substitution G A intron_variant ESAD-UK 2 190313093 190313093 deletion of <=200bp T - intron_variant ESAD-UK 2 190314074 190314074 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 190314074 190314074 single base substitution A C intron_variant ESAD-UK 2 190315681 190315681 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 190315681 190315681 single base substitution G A exon_variant ESAD-UK 2 190315681 190315681 single base substitution G A missense_variant G90D 269G>A ESAD-UK 2 190315878 190315878 single base substitution C A intron_variant ESAD-UK 2 190317659 190317659 single base substitution G A downstream_gene_variant ESAD-UK 2 190317659 190317659 single base substitution G A intron_variant ESAD-UK 2 190317815 190317815 single base substitution C T downstream_gene_variant ESAD-UK 2 190317815 190317815 single base substitution C T intron_variant ESAD-UK 2 190318164 190318164 single base substitution T C downstream_gene_variant ESAD-UK 2 190318164 190318164 single base substitution T C intron_variant ESAD-UK 2 190319981 190319981 single base substitution A G downstream_gene_variant ESAD-UK 2 190319981 190319981 single base substitution A G intron_variant ESAD-UK 2 190320996 190320996 single base substitution A G downstream_gene_variant ESAD-UK 2 190320996 190320996 single base substitution A G intron_variant ESAD-UK 2 190325432 190325432 single base substitution G A intron_variant ESAD-UK 2 190325432 190325432 single base substitution G A upstream_gene_variant ESAD-UK 2 190326995 190326995 single base substitution C T intron_variant ESAD-UK 2 190326995 190326995 single base substitution C T upstream_gene_variant ESAD-UK 2 190327328 190327328 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 190327328 190327328 single base substitution G A exon_variant ESAD-UK 2 190327328 190327328 single base substitution G A synonymous_variant S299S 897G>A ESAD-UK 2 190327561 190327561 single base substitution G A intron_variant ESAD-UK 2 190329471 190329471 single base substitution G A downstream_gene_variant ESAD-UK 2 190329471 190329471 single base substitution G A intron_variant ESAD-UK 2 190332588 190332588 single base substitution A T downstream_gene_variant ESAD-UK 2 190332588 190332588 single base substitution A T intron_variant ESAD-UK 2 190333174 190333174 single base substitution G A downstream_gene_variant ESAD-UK 2 190333174 190333174 single base substitution G A intron_variant ESAD-UK 2 190333175 190333175 single base substitution C A downstream_gene_variant ESAD-UK 2 190333175 190333175 single base substitution C A intron_variant ESAD-UK 2 190333202 190333202 single base substitution C A downstream_gene_variant ESAD-UK 2 190333202 190333202 single base substitution C A missense_variant H544N 1630C>A ESAD-UK 2 190333202 190333202 single base substitution C A splice_region_variant ESAD-UK 2 190333576 190333576 single base substitution C T downstream_gene_variant ESAD-UK 2 190333576 190333576 single base substitution C T intron_variant ESAD-UK 2 190333879 190333879 single base substitution G C downstream_gene_variant ESAD-UK 2 190333879 190333879 single base substitution G C intron_variant ESAD-UK 2 190334385 190334385 single base substitution T G intron_variant ESAD-UK 2 190338531 190338531 single base substitution C A intron_variant ESAD-UK 2 190341246 190341246 single base substitution G A downstream_gene_variant ESAD-UK 2 190343430 190343430 single base substitution A G downstream_gene_variant ESAD-UK 2 190343487 190343487 single base substitution T C downstream_gene_variant ESAD-UK 2 190344147 190344147 single base substitution T C downstream_gene_variant ESAD-UK 2 190344844 190344844 single base substitution G T downstream_gene_variant ESCA-CN 2 190324123 190324123 single base substitution G C 3_prime_UTR_variant ESCA-CN 2 190324123 190324123 single base substitution G C downstream_gene_variant ESCA-CN 2 190324123 190324123 single base substitution G C missense_variant V251L 751G>C ESCA-CN 2 190324123 190324123 single base substitution G C upstream_gene_variant ESCA-CN 2 190327076 190327076 single base substitution C T intron_variant ESCA-CN 2 190327076 190327076 single base substitution C T upstream_gene_variant KIRC-US 2 190324065 190324065 single base substitution G A 3_prime_UTR_variant KIRC-US 2 190324065 190324065 single base substitution G A downstream_gene_variant KIRC-US 2 190324065 190324065 single base substitution G A synonymous_variant R231R 693G>A KIRC-US 2 190324065 190324065 single base substitution G A upstream_gene_variant KIRP-US 2 190306269 190306269 single base substitution G C exon_variant KIRP-US 2 190306269 190306269 single base substitution G C missense_variant L17F 51G>C LAML-KR 2 190316752 190316752 single base substitution C T exon_variant LAML-KR 2 190316752 190316752 single base substitution C T intron_variant LAML-KR 2 190327126 190327126 single base substitution C G intron_variant LAML-KR 2 190327126 190327126 single base substitution C G upstream_gene_variant LGG-US 2 190313123 190313123 single base substitution T C exon_variant LGG-US 2 190313123 190313123 single base substitution T C synonymous_variant S35S 105T>C LICA-CN 2 190334833 190334833 single base substitution A G 3_prime_UTR_variant LICA-CN 2 190334833 190334833 single base substitution A G synonymous_variant P617P 1851A>G LICA-FR 2 190325237 190325237 insertion of <=200bp - T downstream_gene_variant LICA-FR 2 190325237 190325237 insertion of <=200bp - T intron_variant LICA-FR 2 190325237 190325237 insertion of <=200bp - T upstream_gene_variant LICA-FR 2 190332108 190332108 single base substitution T G downstream_gene_variant LICA-FR 2 190332108 190332108 single base substitution T G intron_variant LICA-FR 2 190340836 190340836 single base substitution A G downstream_gene_variant LINC-JP 2 190306208 190306208 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 2 190306208 190306208 single base substitution A G 5_prime_UTR_variant LINC-JP 2 190306208 190306208 single base substitution A G exon_variant LIRI-JP 2 190302509 190302509 single base substitution T C upstream_gene_variant LIRI-JP 2 190303083 190303083 single base substitution G A upstream_gene_variant LIRI-JP 2 190305520 190305520 single base substitution C A upstream_gene_variant LIRI-JP 2 190308726 190308726 single base substitution T G intron_variant LIRI-JP 2 190309032 190309056 deletion of <=200bp TTTGGCGGCTTCCTCTTGAAACTAG - intron_variant LIRI-JP 2 190309826 190309826 single base substitution A C intron_variant LIRI-JP 2 190309990 190309990 single base substitution C T intron_variant LIRI-JP 2 190309997 190309997 single base substitution G A intron_variant LIRI-JP 2 190310254 190310254 single base substitution A G intron_variant LIRI-JP 2 190310813 190310813 single base substitution T G intron_variant LIRI-JP 2 190311453 190311453 single base substitution A G intron_variant LIRI-JP 2 190311981 190311981 single base substitution A G intron_variant LIRI-JP 2 190313227 190313227 single base substitution A G exon_variant LIRI-JP 2 190313227 190313227 single base substitution A G missense_variant H70R 209A>G LIRI-JP 2 190314382 190314382 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 190314382 190314382 single base substitution T C intron_variant LIRI-JP 2 190315245 190315245 single base substitution G T 3_prime_UTR_variant LIRI-JP 2 190315245 190315245 single base substitution G T intron_variant LIRI-JP 2 190316239 190316239 single base substitution G A intron_variant LIRI-JP 2 190316261 190316261 single base substitution G A intron_variant LIRI-JP 2 190316877 190316877 single base substitution T C downstream_gene_variant LIRI-JP 2 190316877 190316877 single base substitution T C intron_variant LIRI-JP 2 190316921 190316921 single base substitution G T downstream_gene_variant LIRI-JP 2 190316921 190316921 single base substitution G T intron_variant LIRI-JP 2 190318060 190318060 single base substitution G A downstream_gene_variant LIRI-JP 2 190318060 190318060 single base substitution G A intron_variant LIRI-JP 2 190318292 190318292 deletion of <=200bp A - downstream_gene_variant LIRI-JP 2 190318292 190318292 deletion of <=200bp A - intron_variant LIRI-JP 2 190319281 190319281 single base substitution T A downstream_gene_variant LIRI-JP 2 190319281 190319281 single base substitution T A intron_variant LIRI-JP 2 190319847 190319847 single base substitution G C downstream_gene_variant LIRI-JP 2 190319847 190319847 single base substitution G C intron_variant LIRI-JP 2 190322402 190322402 single base substitution A G downstream_gene_variant LIRI-JP 2 190322402 190322402 single base substitution A G intron_variant LIRI-JP 2 190322402 190322402 single base substitution A G upstream_gene_variant LIRI-JP 2 190328320 190328320 single base substitution A G intron_variant LIRI-JP 2 190328325 190328325 single base substitution G A intron_variant LIRI-JP 2 190329606 190329606 insertion of <=200bp - TATA downstream_gene_variant LIRI-JP 2 190329606 190329606 insertion of <=200bp - TATA intron_variant LIRI-JP 2 190329986 190329986 single base substitution A G downstream_gene_variant LIRI-JP 2 190329986 190329986 single base substitution A G splice_region_variant LIRI-JP 2 190331613 190331613 single base substitution G C downstream_gene_variant LIRI-JP 2 190331613 190331613 single base substitution G C intron_variant LIRI-JP 2 190332362 190332362 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 190332362 190332362 single base substitution C T downstream_gene_variant LIRI-JP 2 190332362 190332362 single base substitution C T missense_variant A539V 1616C>T LIRI-JP 2 190334382 190334382 single base substitution T C intron_variant LIRI-JP 2 190335020 190335020 single base substitution G A intron_variant LIRI-JP 2 190335505 190335505 single base substitution C T intron_variant LIRI-JP 2 190335535 190335535 single base substitution C G intron_variant LIRI-JP 2 190335653 190335653 single base substitution A G intron_variant LIRI-JP 2 190336554 190336554 single base substitution G A intron_variant LIRI-JP 2 190340165 190340165 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 190340840 190340840 single base substitution A G downstream_gene_variant LIRI-JP 2 190343194 190343194 single base substitution C T downstream_gene_variant LIRI-JP 2 190343959 190343959 single base substitution G T downstream_gene_variant LIRI-JP 2 190344633 190344633 single base substitution A G downstream_gene_variant LUSC-KR 2 190301747 190301747 single base substitution T C upstream_gene_variant LUSC-KR 2 190306180 190306180 single base substitution G T 5_prime_UTR_variant LUSC-KR 2 190306180 190306180 single base substitution G T upstream_gene_variant LUSC-KR 2 190318671 190318671 single base substitution C T downstream_gene_variant LUSC-KR 2 190318671 190318671 single base substitution C T intron_variant LUSC-KR 2 190327400 190327400 single base substitution T C intron_variant LUSC-KR 2 190329686 190329686 single base substitution A G downstream_gene_variant LUSC-KR 2 190329686 190329686 single base substitution A G intron_variant LUSC-KR 2 190329792 190329792 single base substitution T C downstream_gene_variant LUSC-KR 2 190329792 190329792 single base substitution T C intron_variant LUSC-KR 2 190330472 190330472 single base substitution G C downstream_gene_variant LUSC-KR 2 190330472 190330472 single base substitution G C intron_variant LUSC-KR 2 190331834 190331834 single base substitution G A downstream_gene_variant LUSC-KR 2 190331834 190331834 single base substitution G A intron_variant LUSC-KR 2 190341969 190341969 single base substitution A C downstream_gene_variant LUSC-KR 2 190343208 190343208 single base substitution A G downstream_gene_variant LUSC-KR 2 190343362 190343362 single base substitution T A downstream_gene_variant LUSC-US 2 190331241 190331241 single base substitution C G 3_prime_UTR_variant LUSC-US 2 190331241 190331241 single base substitution C G downstream_gene_variant LUSC-US 2 190331241 190331241 single base substitution C G synonymous_variant T460T 1380C>G LUSC-US 2 190331263 190331263 single base substitution G A 3_prime_UTR_variant LUSC-US 2 190331263 190331263 single base substitution G A downstream_gene_variant LUSC-US 2 190331263 190331263 single base substitution G A missense_variant G468S 1402G>A LUSC-US 2 190335583 190335583 single base substitution A C 3_prime_UTR_variant LUSC-US 2 190335583 190335583 single base substitution A C missense_variant K676N 2028A>C LUSC-US 2 190340027 190340027 single base substitution C G 3_prime_UTR_variant LUSC-US 2 190340027 190340027 single base substitution C G missense_variant Q793E 2377C>G MALY-DE 2 190301478 190301478 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 190304257 190304257 single base substitution G A upstream_gene_variant MALY-DE 2 190313450 190313450 single base substitution A T intron_variant MALY-DE 2 190313516 190313516 single base substitution A G intron_variant MALY-DE 2 190314006 190314006 single base substitution A G exon_variant MALY-DE 2 190314006 190314006 single base substitution A G intron_variant MALY-DE 2 190318139 190318139 single base substitution A C downstream_gene_variant MALY-DE 2 190318139 190318139 single base substitution A C intron_variant MALY-DE 2 190325001 190325001 single base substitution G A downstream_gene_variant MALY-DE 2 190325001 190325001 single base substitution G A intron_variant MALY-DE 2 190325001 190325001 single base substitution G A upstream_gene_variant MALY-DE 2 190334075 190334075 single base substitution T C 3_prime_UTR_variant MALY-DE 2 190334075 190334075 single base substitution T C missense_variant W577R 1729T>C MALY-DE 2 190335222 190335222 single base substitution T A intron_variant MALY-DE 2 190340022 190340022 single base substitution A C 3_prime_UTR_variant MALY-DE 2 190340022 190340022 single base substitution A C missense_variant K791T 2372A>C MALY-DE 2 190341456 190341456 single base substitution A C downstream_gene_variant MALY-DE 2 190344480 190344480 single base substitution T G downstream_gene_variant MELA-AU 2 190301259 190301259 single base substitution A G upstream_gene_variant MELA-AU 2 190301404 190301404 single base substitution G A upstream_gene_variant MELA-AU 2 190301443 190301443 single base substitution G A upstream_gene_variant MELA-AU 2 190301485 190301485 single base substitution A G upstream_gene_variant MELA-AU 2 190301710 190301710 single base substitution C T upstream_gene_variant MELA-AU 2 190301881 190301881 single base substitution C T upstream_gene_variant MELA-AU 2 190302344 190302344 single base substitution A C upstream_gene_variant MELA-AU 2 190302422 190302422 single base substitution G A upstream_gene_variant MELA-AU 2 190302907 190302907 single base substitution T C upstream_gene_variant MELA-AU 2 190303360 190303360 single base substitution G A upstream_gene_variant MELA-AU 2 190303361 190303361 single base substitution G A upstream_gene_variant MELA-AU 2 190303615 190303615 single base substitution G A upstream_gene_variant MELA-AU 2 190303742 190303742 single base substitution C T upstream_gene_variant MELA-AU 2 190306021 190306021 single base substitution C T upstream_gene_variant MELA-AU 2 190307333 190307333 single base substitution C G intron_variant MELA-AU 2 190307877 190307877 single base substitution G T intron_variant MELA-AU 2 190309944 190309944 single base substitution C T intron_variant MELA-AU 2 190310826 190310826 single base substitution C T intron_variant MELA-AU 2 190310989 190310989 single base substitution C T intron_variant MELA-AU 2 190312683 190312683 single base substitution C T intron_variant MELA-AU 2 190312699 190312699 single base substitution C T intron_variant MELA-AU 2 190312838 190312838 single base substitution C T intron_variant MELA-AU 2 190313530 190313530 single base substitution C T exon_variant MELA-AU 2 190313530 190313530 single base substitution C T intron_variant MELA-AU 2 190314144 190314144 single base substitution C T 3_prime_UTR_variant MELA-AU 2 190314144 190314144 single base substitution C T intron_variant MELA-AU 2 190314352 190314352 single base substitution G A 3_prime_UTR_variant MELA-AU 2 190314352 190314352 single base substitution G A intron_variant MELA-AU 2 190315279 190315279 single base substitution G T 3_prime_UTR_variant MELA-AU 2 190315279 190315279 single base substitution G T intron_variant MELA-AU 2 190315288 190315288 single base substitution C T 3_prime_UTR_variant MELA-AU 2 190315288 190315288 single base substitution C T intron_variant MELA-AU 2 190315589 190315589 single base substitution C T 3_prime_UTR_variant MELA-AU 2 190315589 190315589 single base substitution C T intron_variant MELA-AU 2 190315719 190315719 single base substitution C T intron_variant MELA-AU 2 190316536 190316536 single base substitution C T 3_prime_UTR_variant MELA-AU 2 190316536 190316536 single base substitution C T exon_variant MELA-AU 2 190316536 190316536 single base substitution C T synonymous_variant F96F 288C>T MELA-AU 2 190316931 190316931 single base substitution C T downstream_gene_variant MELA-AU 2 190316931 190316931 single base substitution C T intron_variant MELA-AU 2 190317153 190317153 single base substitution T C downstream_gene_variant MELA-AU 2 190317153 190317153 single base substitution T C intron_variant MELA-AU 2 190317621 190317621 single base substitution G A downstream_gene_variant MELA-AU 2 190317621 190317621 single base substitution G A intron_variant MELA-AU 2 190317645 190317645 single base substitution G A downstream_gene_variant MELA-AU 2 190317645 190317645 single base substitution G A intron_variant MELA-AU 2 190317661 190317661 single base substitution G A downstream_gene_variant MELA-AU 2 190317661 190317661 single base substitution G A intron_variant MELA-AU 2 190319534 190319534 single base substitution G A downstream_gene_variant MELA-AU 2 190319534 190319534 single base substitution G A intron_variant MELA-AU 2 190319988 190319988 single base substitution T A downstream_gene_variant MELA-AU 2 190319988 190319988 single base substitution T A intron_variant MELA-AU 2 190320186 190320186 single base substitution T C downstream_gene_variant MELA-AU 2 190320186 190320186 single base substitution T C exon_variant MELA-AU 2 190320186 190320186 single base substitution T C intron_variant MELA-AU 2 190321647 190321647 single base substitution T C downstream_gene_variant MELA-AU 2 190321647 190321647 single base substitution T C intron_variant MELA-AU 2 190322018 190322018 single base substitution C T downstream_gene_variant MELA-AU 2 190322018 190322018 single base substitution C T intron_variant MELA-AU 2 190322629 190322630 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 190322629 190322630 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 190322629 190322630 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 190322987 190322987 single base substitution T G downstream_gene_variant MELA-AU 2 190322987 190322987 single base substitution T G intron_variant MELA-AU 2 190322987 190322987 single base substitution T G upstream_gene_variant MELA-AU 2 190323195 190323195 single base substitution C T downstream_gene_variant MELA-AU 2 190323195 190323195 single base substitution C T intron_variant MELA-AU 2 190323195 190323195 single base substitution C T upstream_gene_variant MELA-AU 2 190323344 190323344 single base substitution C T downstream_gene_variant MELA-AU 2 190323344 190323344 single base substitution C T intron_variant MELA-AU 2 190323344 190323344 single base substitution C T upstream_gene_variant MELA-AU 2 190323399 190323399 single base substitution G A downstream_gene_variant MELA-AU 2 190323399 190323399 single base substitution G A intron_variant MELA-AU 2 190323399 190323399 single base substitution G A upstream_gene_variant MELA-AU 2 190323450 190323450 single base substitution T C downstream_gene_variant MELA-AU 2 190323450 190323450 single base substitution T C intron_variant MELA-AU 2 190323450 190323450 single base substitution T C upstream_gene_variant MELA-AU 2 190323474 190323474 single base substitution C T downstream_gene_variant MELA-AU 2 190323474 190323474 single base substitution C T splice_region_variant MELA-AU 2 190323474 190323474 single base substitution C T upstream_gene_variant MELA-AU 2 190323564 190323564 single base substitution G A 3_prime_UTR_variant MELA-AU 2 190323564 190323564 single base substitution G A downstream_gene_variant MELA-AU 2 190323564 190323564 single base substitution G A missense_variant A219T 655G>A MELA-AU 2 190323564 190323564 single base substitution G A upstream_gene_variant MELA-AU 2 190323591 190323591 single base substitution C T 3_prime_UTR_variant MELA-AU 2 190323591 190323591 single base substitution C T downstream_gene_variant MELA-AU 2 190323591 190323591 single base substitution C T missense_variant R228C 682C>T MELA-AU 2 190323591 190323591 single base substitution C T upstream_gene_variant MELA-AU 2 190323628 190323628 single base substitution C T downstream_gene_variant MELA-AU 2 190323628 190323628 single base substitution C T intron_variant MELA-AU 2 190323628 190323628 single base substitution C T upstream_gene_variant MELA-AU 2 190324142 190324142 single base substitution C T 3_prime_UTR_variant MELA-AU 2 190324142 190324142 single base substitution C T downstream_gene_variant MELA-AU 2 190324142 190324142 single base substitution C T missense_variant S257L 770C>T MELA-AU 2 190324142 190324142 single base substitution C T upstream_gene_variant MELA-AU 2 190325439 190325439 single base substitution C G intron_variant MELA-AU 2 190325439 190325439 single base substitution C G upstream_gene_variant MELA-AU 2 190325906 190325906 single base substitution A C intron_variant MELA-AU 2 190325906 190325906 single base substitution A C upstream_gene_variant MELA-AU 2 190326050 190326050 single base substitution G A intron_variant MELA-AU 2 190326050 190326050 single base substitution G A upstream_gene_variant MELA-AU 2 190326451 190326451 single base substitution C T intron_variant MELA-AU 2 190326451 190326451 single base substitution C T upstream_gene_variant MELA-AU 2 190326620 190326620 single base substitution C T intron_variant MELA-AU 2 190326620 190326620 single base substitution C T upstream_gene_variant MELA-AU 2 190326854 190326854 single base substitution C T intron_variant MELA-AU 2 190326854 190326854 single base substitution C T upstream_gene_variant MELA-AU 2 190327192 190327192 single base substitution C T intron_variant MELA-AU 2 190327192 190327192 single base substitution C T upstream_gene_variant MELA-AU 2 190327495 190327495 single base substitution C T intron_variant MELA-AU 2 190327625 190327625 single base substitution C T intron_variant MELA-AU 2 190327963 190327963 single base substitution T C intron_variant MELA-AU 2 190328538 190328538 single base substitution T C exon_variant MELA-AU 2 190328538 190328538 single base substitution T C intron_variant MELA-AU 2 190328664 190328664 single base substitution C T 3_prime_UTR_variant MELA-AU 2 190328664 190328664 single base substitution C T exon_variant MELA-AU 2 190328664 190328664 single base substitution C T stop_gained Q364* 1090C>T MELA-AU 2 190329095 190329095 single base substitution C T downstream_gene_variant MELA-AU 2 190329095 190329095 single base substitution C T intron_variant MELA-AU 2 190329200 190329200 single base substitution C T downstream_gene_variant MELA-AU 2 190329200 190329200 single base substitution C T intron_variant MELA-AU 2 190329541 190329541 single base substitution G A downstream_gene_variant MELA-AU 2 190329541 190329541 single base substitution G A intron_variant MELA-AU 2 190331052 190331052 single base substitution G A downstream_gene_variant MELA-AU 2 190331052 190331052 single base substitution G A intron_variant MELA-AU 2 190331883 190331883 single base substitution C T downstream_gene_variant MELA-AU 2 190331883 190331883 single base substitution C T intron_variant MELA-AU 2 190332130 190332130 single base substitution G A downstream_gene_variant MELA-AU 2 190332130 190332130 single base substitution G A intron_variant MELA-AU 2 190332595 190332595 single base substitution C T downstream_gene_variant MELA-AU 2 190332595 190332595 single base substitution C T intron_variant MELA-AU 2 190332659 190332659 single base substitution C T downstream_gene_variant MELA-AU 2 190332659 190332659 single base substitution C T intron_variant MELA-AU 2 190334417 190334417 single base substitution A T intron_variant MELA-AU 2 190334588 190334588 single base substitution C T intron_variant MELA-AU 2 190334794 190334794 single base substitution C T splice_region_variant MELA-AU 2 190334898 190334898 single base substitution T C 3_prime_UTR_variant MELA-AU 2 190334898 190334898 single base substitution T C missense_variant V639A 1916T>C MELA-AU 2 190335311 190335311 single base substitution T C intron_variant MELA-AU 2 190335886 190335886 single base substitution C T intron_variant MELA-AU 2 190336116 190336116 single base substitution T C intron_variant MELA-AU 2 190336318 190336318 single base substitution A T intron_variant MELA-AU 2 190336466 190336466 single base substitution C T intron_variant MELA-AU 2 190336758 190336758 single base substitution T A intron_variant MELA-AU 2 190337262 190337262 single base substitution C T intron_variant MELA-AU 2 190337693 190337693 single base substitution C T intron_variant MELA-AU 2 190337718 190337718 single base substitution T A intron_variant MELA-AU 2 190338067 190338067 single base substitution C T intron_variant MELA-AU 2 190338404 190338404 single base substitution C T intron_variant MELA-AU 2 190338760 190338760 single base substitution T G intron_variant MELA-AU 2 190338808 190338808 single base substitution C T intron_variant MELA-AU 2 190338913 190338913 single base substitution T A missense_variant L684Q 2051T>A MELA-AU 2 190338913 190338913 single base substitution T A splice_region_variant MELA-AU 2 190338924 190338924 single base substitution G A 3_prime_UTR_variant MELA-AU 2 190338924 190338924 single base substitution G A missense_variant E688K 2062G>A MELA-AU 2 190339218 190339218 single base substitution G A intron_variant MELA-AU 2 190339275 190339275 single base substitution G T intron_variant MELA-AU 2 190339485 190339485 single base substitution C T 3_prime_UTR_variant MELA-AU 2 190339485 190339485 single base substitution C T synonymous_variant L747L 2239C>T MELA-AU 2 190339784 190339784 single base substitution C T intron_variant MELA-AU 2 190340422 190340422 single base substitution T A downstream_gene_variant MELA-AU 2 190340644 190340644 single base substitution C T downstream_gene_variant MELA-AU 2 190341976 190341976 single base substitution C T downstream_gene_variant MELA-AU 2 190342303 190342303 single base substitution C T downstream_gene_variant MELA-AU 2 190342401 190342401 single base substitution C T downstream_gene_variant MELA-AU 2 190342481 190342481 single base substitution G A downstream_gene_variant MELA-AU 2 190342632 190342632 single base substitution C T downstream_gene_variant MELA-AU 2 190342688 190342688 single base substitution A T downstream_gene_variant MELA-AU 2 190343115 190343115 single base substitution C T downstream_gene_variant MELA-AU 2 190343539 190343539 single base substitution C T downstream_gene_variant MELA-AU 2 190343744 190343744 single base substitution C T downstream_gene_variant MELA-AU 2 190343846 190343846 single base substitution C T downstream_gene_variant MELA-AU 2 190344073 190344073 single base substitution G A downstream_gene_variant MELA-AU 2 190344223 190344223 single base substitution C T downstream_gene_variant MELA-AU 2 190344384 190344384 single base substitution C T downstream_gene_variant MELA-AU 2 190345132 190345132 single base substitution G A downstream_gene_variant MELA-AU 2 190345242 190345242 single base substitution G C downstream_gene_variant ORCA-IN 2 190308722 190308722 single base substitution T C intron_variant OV-AU 2 190309904 190309904 single base substitution T C intron_variant OV-AU 2 190309905 190309905 single base substitution G T intron_variant OV-AU 2 190310406 190310406 single base substitution T C intron_variant OV-AU 2 190314045 190314045 single base substitution G A exon_variant OV-AU 2 190314045 190314045 single base substitution G A intron_variant OV-AU 2 190316617 190316617 single base substitution A C 3_prime_UTR_variant OV-AU 2 190316617 190316617 single base substitution A C exon_variant OV-AU 2 190316617 190316617 single base substitution A C missense_variant K123N 369A>C OV-AU 2 190319414 190319414 single base substitution A C downstream_gene_variant OV-AU 2 190319414 190319414 single base substitution A C intron_variant OV-AU 2 190333121 190333121 single base substitution A G downstream_gene_variant OV-AU 2 190333121 190333121 single base substitution A G intron_variant OV-AU 2 190337453 190337453 single base substitution C G intron_variant OV-AU 2 190340334 190340334 single base substitution T C downstream_gene_variant OV-AU 2 190340822 190340822 single base substitution T C downstream_gene_variant OV-AU 2 190342535 190342535 single base substitution T C downstream_gene_variant PACA-AU 2 190301257 190301257 deletion of <=200bp A - upstream_gene_variant PACA-AU 2 190302473 190302473 single base substitution A G upstream_gene_variant PACA-AU 2 190320338 190320338 deletion of <=200bp T - downstream_gene_variant PACA-AU 2 190320338 190320338 deletion of <=200bp T - exon_variant PACA-AU 2 190320338 190320338 deletion of <=200bp T - intron_variant PACA-AU 2 190325424 190325424 single base substitution G T intron_variant PACA-AU 2 190325424 190325424 single base substitution G T upstream_gene_variant PACA-AU 2 190327987 190327987 single base substitution G T intron_variant PACA-AU 2 190328644 190328644 single base substitution A C 3_prime_UTR_variant PACA-AU 2 190328644 190328644 single base substitution A C exon_variant PACA-AU 2 190328644 190328644 single base substitution A C missense_variant H357P 1070A>C PACA-AU 2 190332222 190332222 single base substitution T C 3_prime_UTR_variant PACA-AU 2 190332222 190332222 single base substitution T C downstream_gene_variant PACA-AU 2 190332222 190332222 single base substitution T C synonymous_variant F492F 1476T>C PACA-AU 2 190340490 190340490 single base substitution A G downstream_gene_variant PACA-CA 2 190301477 190301477 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 190301575 190301575 single base substitution G A upstream_gene_variant PACA-CA 2 190302063 190302063 single base substitution G C upstream_gene_variant PACA-CA 2 190302163 190302163 single base substitution C T upstream_gene_variant PACA-CA 2 190316677 190316677 single base substitution G T exon_variant PACA-CA 2 190316677 190316677 single base substitution G T intron_variant PACA-CA 2 190320867 190320869 deletion of <=200bp AAC - downstream_gene_variant PACA-CA 2 190320867 190320869 deletion of <=200bp AAC - intron_variant PACA-CA 2 190322999 190322999 single base substitution A T downstream_gene_variant PACA-CA 2 190322999 190322999 single base substitution A T intron_variant PACA-CA 2 190322999 190322999 single base substitution A T upstream_gene_variant PACA-CA 2 190324127 190324136 deletion of <=200bp TGGATTTGGC - 3_prime_UTR_variant PACA-CA 2 190324127 190324136 deletion of <=200bp TGGATTTGGC - downstream_gene_variant PACA-CA 2 190324127 190324136 deletion of <=200bp TGGATTTGGC - frameshift_variant MDLA252 PACA-CA 2 190324127 190324136 deletion of <=200bp TGGATTTGGC - upstream_gene_variant PACA-CA 2 190332172 190332172 single base substitution A T downstream_gene_variant PACA-CA 2 190332172 190332172 single base substitution A T intron_variant PACA-CA 2 190333760 190333760 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 190333760 190333760 insertion of <=200bp - T intron_variant PACA-CA 2 190334974 190334990 deletion of <=200bp AACTGCCTCCCTCAAAA - splice_region_variant PACA-CA 2 190338257 190338257 single base substitution C T intron_variant PACA-CA 2 190339211 190339211 single base substitution G T intron_variant PACA-CA 2 190341652 190341652 insertion of <=200bp - C downstream_gene_variant PACA-CA 2 190344478 190344478 single base substitution C T downstream_gene_variant PBCA-DE 2 190318009 190318009 single base substitution G A downstream_gene_variant PBCA-DE 2 190318009 190318009 single base substitution G A intron_variant PBCA-DE 2 190325360 190325391 deletion of <=200bp AGCTGGGACTACAGGCACGCACCACCACGCCC - intron_variant PBCA-DE 2 190325360 190325391 deletion of <=200bp AGCTGGGACTACAGGCACGCACCACCACGCCC - upstream_gene_variant PBCA-DE 2 190329219 190329219 deletion of <=200bp A - downstream_gene_variant PBCA-DE 2 190329219 190329219 deletion of <=200bp A - intron_variant PBCA-DE 2 190340826 190340826 single base substitution C T downstream_gene_variant PBCA-DE 2 190344834 190344834 single base substitution G A downstream_gene_variant PRAD-CA 2 190302705 190302705 single base substitution A C upstream_gene_variant PRAD-CA 2 190305978 190305978 single base substitution T C upstream_gene_variant PRAD-UK 2 190302058 190302058 single base substitution C T upstream_gene_variant PRAD-UK 2 190308390 190308390 single base substitution G A intron_variant PRAD-UK 2 190310645 190310645 single base substitution C T intron_variant PRAD-UK 2 190322359 190322359 single base substitution C T downstream_gene_variant PRAD-UK 2 190322359 190322359 single base substitution C T intron_variant PRAD-UK 2 190322359 190322359 single base substitution C T upstream_gene_variant PRAD-UK 2 190328900 190328900 single base substitution A G exon_variant PRAD-UK 2 190328900 190328900 single base substitution A G intron_variant PRAD-UK 2 190330701 190330701 single base substitution T G downstream_gene_variant PRAD-UK 2 190330701 190330701 single base substitution T G intron_variant PRAD-UK 2 190337157 190337157 single base substitution C T intron_variant READ-US 2 190323591 190323591 single base substitution C T 3_prime_UTR_variant READ-US 2 190323591 190323591 single base substitution C T downstream_gene_variant READ-US 2 190323591 190323591 single base substitution C T missense_variant R228C 682C>T READ-US 2 190323591 190323591 single base substitution C T upstream_gene_variant READ-US 2 190327229 190327229 single base substitution C T 3_prime_UTR_variant READ-US 2 190327229 190327229 single base substitution C T exon_variant READ-US 2 190327229 190327229 single base substitution C T synonymous_variant G266G 798C>T RECA-EU 2 190301933 190301933 single base substitution T A upstream_gene_variant RECA-EU 2 190305074 190305074 single base substitution C T upstream_gene_variant RECA-EU 2 190313159 190313159 single base substitution A G exon_variant RECA-EU 2 190313159 190313159 single base substitution A G synonymous_variant E47E 141A>G RECA-EU 2 190320259 190320259 single base substitution T A downstream_gene_variant RECA-EU 2 190320259 190320259 single base substitution T A exon_variant RECA-EU 2 190320259 190320259 single base substitution T A intron_variant RECA-EU 2 190337207 190337207 single base substitution T C intron_variant SKCA-BR 2 190303307 190303307 single base substitution T C upstream_gene_variant SKCA-BR 2 190306118 190306118 single base substitution C T upstream_gene_variant SKCA-BR 2 190306119 190306119 single base substitution C T upstream_gene_variant SKCA-BR 2 190311152 190311152 single base substitution C T intron_variant SKCA-BR 2 190315377 190315377 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 190315377 190315377 single base substitution C T intron_variant SKCA-BR 2 190316463 190316463 single base substitution C T intron_variant SKCA-BR 2 190317264 190317264 insertion of <=200bp - GGTGACAGA downstream_gene_variant SKCA-BR 2 190317264 190317264 insertion of <=200bp - GGTGACAGA intron_variant SKCA-BR 2 190319317 190319317 single base substitution G A downstream_gene_variant SKCA-BR 2 190319317 190319317 single base substitution G A intron_variant SKCA-BR 2 190323644 190323644 single base substitution T C downstream_gene_variant SKCA-BR 2 190323644 190323644 single base substitution T C intron_variant SKCA-BR 2 190323644 190323644 single base substitution T C upstream_gene_variant SKCA-BR 2 190323718 190323718 single base substitution C T downstream_gene_variant SKCA-BR 2 190323718 190323718 single base substitution C T intron_variant SKCA-BR 2 190323718 190323718 single base substitution C T upstream_gene_variant SKCA-BR 2 190326549 190326549 single base substitution A G intron_variant SKCA-BR 2 190326549 190326549 single base substitution A G upstream_gene_variant SKCA-BR 2 190330297 190330297 single base substitution C T downstream_gene_variant SKCA-BR 2 190330297 190330297 single base substitution C T intron_variant SKCA-BR 2 190336119 190336119 single base substitution A G intron_variant SKCA-BR 2 190336705 190336705 single base substitution A T intron_variant SKCA-BR 2 190339048 190339048 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 190339048 190339048 single base substitution C T missense_variant A729V 2186C>T SKCA-BR 2 190340490 190340490 single base substitution A T downstream_gene_variant SKCA-BR 2 190341643 190341643 single base substitution C T downstream_gene_variant SKCM-US 2 190322059 190322059 single base substitution G A 3_prime_UTR_variant SKCM-US 2 190322059 190322059 single base substitution G A downstream_gene_variant SKCM-US 2 190322059 190322059 single base substitution G A missense_variant R174Q 521G>A SKCM-US 2 190323591 190323591 single base substitution C T 3_prime_UTR_variant SKCM-US 2 190323591 190323591 single base substitution C T downstream_gene_variant SKCM-US 2 190323591 190323591 single base substitution C T missense_variant R228C 682C>T SKCM-US 2 190323591 190323591 single base substitution C T upstream_gene_variant SKCM-US 2 190324142 190324142 single base substitution C T 3_prime_UTR_variant SKCM-US 2 190324142 190324142 single base substitution C T downstream_gene_variant SKCM-US 2 190324142 190324142 single base substitution C T missense_variant S257L 770C>T SKCM-US 2 190324142 190324142 single base substitution C T upstream_gene_variant SKCM-US 2 190327291 190327291 single base substitution C T 3_prime_UTR_variant SKCM-US 2 190327291 190327291 single base substitution C T exon_variant SKCM-US 2 190327291 190327291 single base substitution C T missense_variant P287L 860C>T SKCM-US 2 190328438 190328438 single base substitution G A 3_prime_UTR_variant SKCM-US 2 190328438 190328438 single base substitution G A exon_variant SKCM-US 2 190328438 190328438 single base substitution G A missense_variant R319Q 956G>A SKCM-US 2 190328664 190328664 single base substitution C T 3_prime_UTR_variant SKCM-US 2 190328664 190328664 single base substitution C T exon_variant SKCM-US 2 190328664 190328664 single base substitution C T stop_gained Q364* 1090C>T SKCM-US 2 190332266 190332266 single base substitution C T 3_prime_UTR_variant SKCM-US 2 190332266 190332266 single base substitution C T downstream_gene_variant SKCM-US 2 190332266 190332266 single base substitution C T missense_variant S507F 1520C>T SKCM-US 2 190334817 190334817 single base substitution C T 3_prime_UTR_variant SKCM-US 2 190334817 190334817 single base substitution C T missense_variant P612L 1835C>T SKCM-US 2 190334870 190334870 single base substitution C T 3_prime_UTR_variant SKCM-US 2 190334870 190334870 single base substitution C T stop_gained Q630* 1888C>T SKCM-US 2 190338913 190338913 single base substitution T A missense_variant L684Q 2051T>A SKCM-US 2 190338913 190338913 single base substitution T A splice_region_variant SKCM-US 2 190340087 190340087 single base substitution G A 3_prime_UTR_variant SKCM-US 2 190340087 190340087 single base substitution G A missense_variant E813K 2437G>A STAD-US 2 190320086 190320086 single base substitution A G 3_prime_UTR_variant STAD-US 2 190320086 190320086 single base substitution A G downstream_gene_variant STAD-US 2 190320086 190320086 single base substitution A G exon_variant STAD-US 2 190320086 190320086 single base substitution A G synonymous_variant S138S 414A>G STAD-US 2 190328454 190328454 single base substitution C T 3_prime_UTR_variant STAD-US 2 190328454 190328454 single base substitution C T exon_variant STAD-US 2 190328454 190328454 single base substitution C T synonymous_variant S324S 972C>T STAD-US 2 190329974 190329974 single base substitution C T 3_prime_UTR_variant STAD-US 2 190329974 190329974 single base substitution C T downstream_gene_variant STAD-US 2 190329974 190329974 single base substitution C T missense_variant T428I 1283C>T UCEC-US 2 190315633 190315633 single base substitution A G 3_prime_UTR_variant UCEC-US 2 190315633 190315633 single base substitution A G exon_variant UCEC-US 2 190315633 190315633 single base substitution A G missense_variant Y74C 221A>G UCEC-US 2 190327259 190327259 single base substitution C T 3_prime_UTR_variant UCEC-US 2 190327259 190327259 single base substitution C T exon_variant UCEC-US 2 190327259 190327259 single base substitution C T synonymous_variant R276R 828C>T UCEC-US 2 190329926 190329926 single base substitution A G 3_prime_UTR_variant UCEC-US 2 190329926 190329926 single base substitution A G downstream_gene_variant UCEC-US 2 190329926 190329926 single base substitution A G missense_variant E412G 1235A>G UCEC-US 2 190331172 190331172 single base substitution T C 3_prime_UTR_variant UCEC-US 2 190331172 190331172 single base substitution T C downstream_gene_variant UCEC-US 2 190331172 190331172 single base substitution T C synonymous_variant I437I 1311T>C UCEC-US 2 190332311 190332311 single base substitution C T 3_prime_UTR_variant UCEC-US 2 190332311 190332311 single base substitution C T downstream_gene_variant UCEC-US 2 190332311 190332311 single base substitution C T missense_variant T522I 1565C>T UCEC-US 2 190333265 190333265 single base substitution C A 3_prime_UTR_variant UCEC-US 2 190333265 190333265 single base substitution C A downstream_gene_variant UCEC-US 2 190333265 190333265 single base substitution C A missense_variant L565I 1693C>A UCEC-US 2 190334122 190334122 single base substitution A G 3_prime_UTR_variant UCEC-US 2 190334122 190334122 single base substitution A G synonymous_variant S592S 1776A>G UCEC-US 2 190339478 190339478 single base substitution T C 3_prime_UTR_variant UCEC-US 2 190339478 190339478 single base substitution T C synonymous_variant A744A 2232T>C UCEC-US 2 190340084 190340084 single base substitution G A 3_prime_UTR_variant UCEC-US 2 190340084 190340084 single base substitution G A missense_variant E812K 2434G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUPAER COSM5395809 c.1085C>T p.S362F Substitution - Missense 2:189463933-189463933 + S0033 COSM5883369 c.2242_2252del11 p.S749fs*7 Deletion - Frameshift 2:189474762-189474772 + ESO-632 COSM1270430 c.1155G>C p.L385L Substitution - coding silent 2:189465120-189465120 + Pat_14_A COSM5861343 c.1148A>T p.Y383F Substitution - Missense 2:189465113-189465113 + WA10 COSM238436 c.1092G>A p.Q364Q Substitution - coding silent 2:189463940-189463940 + TCGA-A4-A5Y0-01 COSM3990919 c.51G>C p.L17F Substitution - Missense 2:189441543-189441543 + 8012342 COSM1168919 c.1476T>C p.F492F Substitution - coding silent 2:189467496-189467496 + TCGA-EE-A29V-06 COSM2712123 c.682C>T p.R228C Substitution - Missense 2:189458865-189458865 + STC248 COSM5058516 c.1798C>T p.Q600* Substitution - Nonsense 2:189469418-189469418 + sysucc-867T COSM5486937 c.2133C>T p.N711N Substitution - coding silent 2:189474269-189474269 + 2171680 COSM4423520 c.1567A>G p.I523V Substitution - Missense 2:189467587-189467587 + TCGA-25-2042-01 COSM73288 c.2228C>G p.S743C Substitution - Missense 2:189474748-189474748 + TCGA-18-4083-01 COSM718842 c.2377C>G p.Q793E Substitution - Missense 2:189475301-189475301 + ESCC_BICR_003T COSM5442697 c.751G>C p.V251L Substitution - Missense 2:189459397-189459397 + PD9597a COSM5789577 c.374-10C>T p.? Unknown 2:189455310-189455310 + TCGA-EJ-7125-01 COSM572427 c.860C>A p.P287Q Substitution - Missense 2:189462565-189462565 + TCGA-FS-A4F5-06 COSM3575493 c.1520C>T p.S507F Substitution - Missense 2:189467540-189467540 + DLD1 COSM2712114 c.292G>A p.V98I Substitution - Missense 2:189451814-189451814 + C086 COSM5541727 c.2238C>T p.F746F Substitution - coding silent 2:189474758-189474758 + TCGA-AA-3856-01 COSM295897 c.1715G>A p.S572N Substitution - Missense 2:189468561-189468561 + 442 COSM4434657 c.1421T>G p.I474R Substitution - Missense 2:189466556-189466556 + TCGA-AG-A01W-01 COSM290222 c.175C>T p.L59L Substitution - coding silent 2:189448467-189448467 + TCGA-FD-A3NA-01 COSM1306225 c.1872C>G p.I624M Substitution - Missense 2:189470128-189470128 + Gp2D COSM2712115 c.300T>A p.C100* Substitution - Nonsense 2:189451822-189451822 + TCGA-F4-6570-01 COSM1404030 c.1612C>T p.R538* Substitution - Nonsense 2:189467632-189467632 + RK134_C01 COSM3702081 c.1990-10C>G p.? Unknown 2:189470809-189470809 + TCGA-BS-A0UJ-01 COSM1013991 c.1235A>G p.E412G Substitution - Missense 2:189465200-189465200 + YUKLAB COSM1691735 c.1375C>T p.P459S Substitution - Missense 2:189466510-189466510 + TCGA-B5-A11E-01 COSM1013990 c.828C>T p.R276R Substitution - coding silent 2:189462533-189462533 + B63 COSM1752188 c.445T>A p.F149I Substitution - Missense 2:189455391-189455391 + TCGA-DS-A0VM-01 COSM461223 c.1278G>A p.K426K Substitution - coding silent 2:189465243-189465243 + sysucc-880T COSM3738241 c.1221G>T p.Q407H Substitution - Missense 2:189465186-189465186 + TCGA-FW-A3R5-06 COSM3896225 c.860C>T p.P287L Substitution - Missense 2:189462565-189462565 + pfg034T COSM4764202 c.715T>A p.Y239N Substitution - Missense 2:189459361-189459361 + T2269 COSM2712125 c.862C>T p.R288C Substitution - Missense 2:189462567-189462567 + ICC013T COSM5814199 c.1851A>G p.P617P Substitution - coding silent 2:189470107-189470107 + TCGA-FW-A3R5-06 COSM3896226 c.956G>A p.R319Q Substitution - Missense 2:189463712-189463712 + RK037_C01 COSM1631664 c.209A>G p.H70R Substitution - Missense 2:189448501-189448501 + TCGA-EI-6882-01 COSM3425869 c.798C>T p.G266G Substitution - coding silent 2:189462503-189462503 + TCGA-EI-6917-01 COSM2712123 c.682C>T p.R228C Substitution - Missense 2:189458865-189458865 + TCGA-A6-6140-01 COSM3757852 c.411C>A p.S137S Substitution - coding silent 2:189455357-189455357 + TCGA-G4-6628-01 COSM1013990 c.828C>T p.R276R Substitution - coding silent 2:189462533-189462533 + LS174T COSM2712137 c.1930A>C p.T644P Substitution - Missense 2:189470186-189470186 + TCGA-60-2725-01 COSM718844 c.1402G>A p.G468S Substitution - Missense 2:189466537-189466537 + B63-Tumor COSM1752188 c.445T>A p.F149I Substitution - Missense 2:189455391-189455391 + pfg016T COSM1641755 c.1041A>C p.K347N Substitution - Missense 2:189463889-189463889 + 16461 COSM5614989 c.1666C>G p.L556V Substitution - Missense 2:189468512-189468512 + CSCC-27-T COSM4475568 c.199C>T p.P67S Substitution - Missense 2:189448491-189448491 + YUROG COSM5395806 c.184G>A p.G62R Substitution - Missense 2:189448476-189448476 + Gp5D COSM2712115 c.300T>A p.C100* Substitution - Nonsense 2:189451822-189451822 + CLL165 COSM1291394 c.89A>G p.Y30C Substitution - Missense 2:189448381-189448381 + LUAD-E01278 COSM394257 c.2402G>T p.G801V Substitution - Missense 2:189475326-189475326 + TCGA-D3-A3MV-06 COSM3575495 c.1888C>T p.Q630* Substitution - Nonsense 2:189470144-189470144 + TCGA-DR-A0ZM-01 COSM461224 c.1092G>C p.Q364H Substitution - Missense 2:189463940-189463940 + LUAD-NYU259 COSM371846 c.799G>T p.G267C Substitution - Missense 2:189462504-189462504 + TCGA-B5-A0JN-01 COSM1013993 c.1565C>T p.T522I Substitution - Missense 2:189467585-189467585 + pfg034T COSM4764203 c.716A>T p.Y239F Substitution - Missense 2:189459362-189459362 + TCGA-D8-A1JA-01 COSM3838137 c.587C>G p.S196* Substitution - Nonsense 2:189458770-189458770 + RKO COSM4614886 c.1228_1229insA p.E412fs*3 Insertion - Frameshift 2:189465193-189465194 + 1920_T COSM3962095 c.378A>G p.I126M Substitution - Missense 2:189455324-189455324 + RK308_C01 COSM3743477 c.1289+6A>G p.? Unknown 2:189465260-189465260 + CSCC-15-T COSM4528936 c.1573G>A p.D525N Substitution - Missense 2:189467593-189467593 + LUAD-S01478 COSM399916 c.1346G>T p.C449F Substitution - Missense 2:189466481-189466481 + CADO-ES1 COSM2712128 c.1150G>A p.G384S Substitution - Missense 2:189465115-189465115 + S0033 COSM5883368 c.361_362AA>T p.K121fs*1 Complex - frameshift 2:189451883-189451884 + TCGA-AR-A0U2-01 COSM441990 c.1559T>C p.I520T Substitution - Missense 2:189467579-189467579 + TCGA-AP-A0LM-01 COSM1013989 c.221A>G p.Y74C Substitution - Missense 2:189450907-189450907 + TCGA-46-3769-01 COSM718845 c.1380C>G p.T460T Substitution - coding silent 2:189466515-189466515 + TCGA-A2-A0T5-01 COSM3838136 c.5T>G p.V2G Substitution - Missense 2:189441497-189441497 + MO_1084 COSM5572998 c.690-1G>A p.? Unknown 2:189459335-189459335 + TCGA-AA-A00N-01 COSM278135 c.1147T>G p.Y383D Substitution - Missense 2:189465112-189465112 + LC_S3 COSM1186074 c.255G>A p.W85* Substitution - Nonsense 2:189450941-189450941 + TCGA-BR-4256-01 COSM4089638 c.414A>G p.S138S Substitution - coding silent 2:189455360-189455360 + TCGA-AK-3427-01 COSM1494689 c.1820-2A>T p.? Unknown 2:189470074-189470074 + TCGA-21-1081-01 COSM718843 c.2028A>C p.K676N Substitution - Missense 2:189470857-189470857 + PT40 COSM2712123 c.682C>T p.R228C Substitution - Missense 2:189458865-189458865 + TCGA-FW-A3R5-06 COSM3896227 c.2437G>A p.E813K Substitution - Missense 2:189475361-189475361 + 9227_T COSM5039453 c.832G>A p.A278T Substitution - Missense 2:189462537-189462537 + TCGA-EE-A29L-06 COSM3575491 c.770C>T p.S257L Substitution - Missense 2:189459416-189459416 + 585208 COSM326877 c.499G>T p.G167* Substitution - Nonsense 2:189457311-189457311 + pfg034T COSM4748144 c.718_719delAC p.T240fs*9 Deletion - Frameshift 2:189459364-189459365 + RK002_C COSM1631665 c.1616C>T p.A539V Substitution - Missense 2:189467636-189467636 + YUZINO COSM1691736 c.1775C>T p.S592L Substitution - Missense 2:189469395-189469395 + TCGA-BS-A0UF-01 COSM1013994 c.1693C>A p.L565I Substitution - Missense 2:189468539-189468539 + TCGA-04-1530-01 COSM78775 c.2380G>C p.D794H Substitution - Missense 2:189475304-189475304 + YUSMI COSM2712123 c.682C>T p.R228C Substitution - Missense 2:189458865-189458865 + TARGET-30-PAPZFW COSM1288952 c.2226A>G p.P742P Substitution - coding silent 2:189474746-189474746 + ESCC_96 COSM5637676 c.678A>T p.K226N Substitution - Missense 2:189458861-189458861 + RK002_C01 COSM1631665 c.1616C>T p.A539V Substitution - Missense 2:189467636-189467636 + 254 COSM3731506 c.1594A>T p.K532* Substitution - Nonsense 2:189467614-189467614 + TCGA-FD-A3SS-01 COSM3798433 c.2134G>A p.E712K Substitution - Missense 2:189474270-189474270 + TCGA-D1-A15X-01 COSM1013997 c.2434G>A p.E812K Substitution - Missense 2:189475358-189475358 + TCGA-FS-A1ZK-06 COSM3575490 c.521G>A p.R174Q Substitution - Missense 2:189457333-189457333 + Mel-2 COSM3726930 c.1718G>A p.C573Y Substitution - Missense 2:189468564-189468564 + TCGA-B5-A11H-01 COSM1013995 c.1776A>G p.S592S Substitution - coding silent 2:189469396-189469396 + LS180 COSM2712137 c.1930A>C p.T644P Substitution - Missense 2:189470186-189470186 + T3202 COSM4741069 c.1554G>T p.E518D Substitution - Missense 2:189467574-189467574 + NCI-H835 COSM2712126 c.920C>T p.T307I Substitution - Missense 2:189462625-189462625 + PA254 COSM1162804 c.268G>A p.G90S Substitution - Missense 2:189450954-189450954 + TCGA-GD-A3OP-01 COSM1306224 c.1713G>A p.L571L Substitution - coding silent 2:189468559-189468559 + T3225 COSM4741070 c.2076A>G p.T692T Substitution - coding silent 2:189474212-189474212 + 8061176 COSM3391352 c.1070A>C p.H357P Substitution - Missense 2:189463918-189463918 + T3351 COSM4741068 c.448_449insT p.L151fs*49 Insertion - Frameshift 2:189455394-189455395 + CSCC-27-T COSM4470063 c.1638C>T p.C546C Substitution - coding silent 2:189468484-189468484 + SJRHB059R COSM3738241 c.1221G>T p.Q407H Substitution - Missense 2:189465186-189465186 + TCGA-AX-A0J1-01 COSM1013992 c.1311T>C p.I437I Substitution - coding silent 2:189466446-189466446 + TCGA-B0-5709-01 COSM476656 c.693G>A p.R231R Substitution - coding silent 2:189459339-189459339 + C0076T COSM4154733 c.141A>G p.E47E Substitution - coding silent 2:189448433-189448433 + TCGA-EE-A2GI-06 COSM3575494 c.1835C>T p.P612L Substitution - Missense 2:189470091-189470091 + PT32 COSM5907260 c.899C>T p.P300L Substitution - Missense 2:189462604-189462604 + TCGA-BS-A0UT-01 COSM1013996 c.2232T>C p.A744A Substitution - coding silent 2:189474752-189474752 + sysucc-1397T COSM5474378 c.77C>T p.A26V Substitution - Missense 2:189441569-189441569 + TCGA-CS-4944-01 COSM3971929 c.105T>C p.S35S Substitution - coding silent 2:189448397-189448397 + TCGA-EE-A29X-06 COSM3575496 c.2051T>A p.L684Q Substitution - Missense 2:189474187-189474187 + AOCS-166-1-2 COSM4139131 c.369A>C p.K123N Substitution - Missense 2:189451891-189451891 + TCGA-30-1718-01 COSM1326574 c.827G>A p.R276H Substitution - Missense 2:189462532-189462532 + ML_06_T_01 COSM5037710 c.2186C>T p.A729V Substitution - Missense 2:189474322-189474322 + HCT15 COSM2712114 c.292G>A p.V98I Substitution - Missense 2:189451814-189451814 + 587376 COSM1232654 c.699T>G p.F233L Substitution - Missense 2:189459345-189459345 + TCGA-BR-4370-01 COSM4089639 c.972C>T p.S324S Substitution - coding silent 2:189463728-189463728 + PA285 COSM1163227 c.674G>T p.G225V Substitution - Missense 2:189458857-189458857 + CHEWS031 COSM4583032 c.887T>C p.I296T Substitution - Missense 2:189462592-189462592 + TCGA-EE-A3AH-06 COSM3575492 c.1090C>T p.Q364* Substitution - Nonsense 2:189463938-189463938 + YUKAT COSM5395808 c.991G>A p.V331M Substitution - Missense 2:189463747-189463747 + YUOMEGA COSM5395807 c.663T>G p.G221G Substitution - coding silent 2:189458846-189458846 + sysucc-1397T COSM5474379 c.1290-4C>T p.? Unknown 2:189466421-189466421 + TCGA-A6-6780-01 COSM1404034 c.2442A>G p.K814K Substitution - coding silent 2:189475366-189475366 + PDA_032 COSM4999665 c.1940C>A p.A647D Substitution - Missense 2:189470196-189470196 + YUKAT COSM5395810 c.1951C>T p.L651L Substitution - coding silent 2:189470207-189470207 + RXF393 COSM1669602 c.2246C>T p.S749F Substitution - Missense 2:189474766-189474766 + PD13306a COSM5783474 c.1816G>A p.D606N Substitution - Missense 2:189469436-189469436 + TCGA-BR-4256-01 COSM4089640 c.1283C>T p.T428I Substitution - Missense 2:189465248-189465248 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.399984 2q32.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K347N c.1041A>C 2 190328615 STAD A C Missense p.K676N c.2028A>C 2 190335583 LUSC A G Missense p.H70R c.209A>G 2 190313227 HC A G Missense p.Y30C c.89A>G 2 190313107 CLL A G Synonymous p.P742P c.2226A>G 2 190339472 NB A G Synonymous p.S138S c.414A>G 2 190320086 STAD A G Synonymous p.S592S c.1776A>G 2 190334122 UCEC C A 3-UTRSNV . c.2490+25C>A 2 190340165 HC C A Missense p.P287Q c.860C>A 2 190327291 LUAD C G Missense p.I624M c.1872C>G 2 190334854 BLCA C G Missense p.L556V c.1666C>G 2 190333238 NSCLC C G Missense p.Q793E c.2377C>G 2 190340027 LUSC C G Missense p.S743C c.2228C>G 2 190339474 OV C G Synonymous p.T460T c.1380C>G 2 190331241 LUSC C T Missense p.A539V c.1616C>T 2 190332362 HC C T Missense p.P612L c.1835C>T 2 190334817 CM C T Missense p.R228C c.682C>T 2 190323591 CM C T Missense p.S257L c.770C>T 2 190324142 CM C T Missense p.T428I c.1283C>T 2 190329974 STAD C T Missense p.T522I c.1565C>T 2 190332311 UCEC C T Missense p.T61I c.182C>T 2 190313200 GBM C T Nonsense p.Q364* c.1090C>T 2 190328664 CM C T Nonsense p.Q630* c.1888C>T 2 190334870 CM C T Synonymous p.I91I c.273C>T 2 190315685 LUAD C T Synonymous p.L59L c.175C>T 2 190313193 COREAD C T Synonymous p.S324S c.972C>T 2 190328454 STAD G A Missense p.E776K c.2326G>A 2 190339976 LUAD G A Missense p.G267S c.799G>A 2 190327230 BRCA G A Missense p.G468S c.1402G>A 2 190331263 LUSC G A Missense p.R174Q c.521G>A 2 190322059 CM G A Missense p.S572N c.1715G>A 2 190333287 COREAD G A Synonymous p.L571L c.1713G>A 2 190333285 BLCA G A Synonymous p.R231R c.693G>A 2 190324065 RCCC G C Missense p.D794H c.2380G>C 2 190340030 OV G C Missense p.L340F c.1020G>C 2 190328594 LUAD G C Synonymous p.L385L c.1155G>C 2 190329846 ESCA G T Nonsense p.G167* c.499G>T 2 190322037 SCLC T A Missense p.L684Q c.2051T>A 2 190338913 CM T C IntronicSNV . c.216+1148T>C 2 190314382 HC T C Missense p.I520T c.1559T>C 2 190332305 BRCA T C Synonymous p.A744A c.2232T>C 2 190339478 UCEC T C Synonymous p.S35S c.105T>C 2 190313123 LGG TG AT MultiAAMissense p.D224_G225delinsEC c.672_673delinsAT 2 190323581 LUAD - T IntronicInsertion . c.569+562dupT 2 190322651 CM