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 7 91974336 91974336 + Silent SNP G G A TCGA-OR-A5KT-01A-11D-A29I-10 TCGA-OR-A5KT-10A-01D-A29L-10 g.chr7:91974336G>A c.1041G>A c.(1039-1041)gtG>gtA p.V347V ACC 7 92027761 92027761 + Missense_Mutation SNP T T G TCGA-PK-A5H8-01A-11D-A29I-10 TCGA-PK-A5H8-10A-01D-A29L-10 g.chr7:92027761T>G c.2768T>G c.(2767-2769)aTg>aGg p.M923R BLCA 7 91924390 91924390 + Missense_Mutation SNP C C T TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr7:91924390C>T c.98C>T c.(97-99)tCt>tTt p.S33F BLCA 7 91936755 91936755 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr7:91936755C>T c.271C>T c.(271-273)Caa>Taa p.Q91* BLCA 7 91957103 91957103 + Nonsense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr7:91957103G>T c.676G>T c.(676-678)Gaa>Taa p.E226* BLCA 7 91972349 91972349 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr7:91972349G>C c.799G>C c.(799-801)Gag>Cag p.E267Q BLCA 7 91972508 91972508 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr7:91972508G>A c.958G>A c.(958-960)Gaa>Aaa p.E320K BLCA 7 91981821 91981821 + Nonsense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 g.chr7:91981821G>A c.1262G>A c.(1261-1263)tGg>tAg p.W421* BLCA 7 91981845 91981845 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 g.chr7:91981845G>C c.1286G>C c.(1285-1287)aGa>aCa p.R429T BLCA 7 91981884 91981884 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr7:91981884G>T c.1325G>T c.(1324-1326)gGa>gTa p.G442V BLCA 7 91981897 91981897 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr7:91981897C>G c.1338C>G c.(1336-1338)ctC>ctG p.L446L BLCA 7 92019317 92019317 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr7:92019317G>A c.1939G>A c.(1939-1941)Gaa>Aaa p.E647K BLCA 7 92027045 92027045 + Missense_Mutation SNP G G C TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr7:92027045G>C c.2404G>C c.(2404-2406)Gaa>Caa p.E802Q BLCA 7 92027682 92027682 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr7:92027682G>C c.2689G>C c.(2689-2691)Gac>Cac p.D897H BLCA 7 92027739 92027739 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr7:92027739T>G c.2746T>G c.(2746-2748)Ttg>Gtg p.L916V BLCA 7 92027928 92027928 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr7:92027928G>C c.2935G>C c.(2935-2937)Gac>Cac p.D979H BLCA 7 92028201 92028201 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr7:92028201G>C c.3208G>C c.(3208-3210)Gat>Cat p.D1070H BRCA 7 91991574 91991574 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr7:91991574G>A c.1473G>A c.(1471-1473)atG>atA p.M491I BRCA 7 92017328 92017328 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr7:92017328G>C c.1879G>C c.(1879-1881)Gag>Cag p.E627Q BRCA 7 92027881 92027881 + Missense_Mutation SNP C C G TCGA-LL-A5YP-01A-21D-A28B-09 TCGA-LL-A5YP-10A-01D-A28E-09 g.chr7:92027881C>G c.2888C>G c.(2887-2889)cCc>cGc p.P963R CESC 7 91936869 91936869 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr7:91936869G>C c.385G>C c.(385-387)Gac>Cac p.D129H CESC 7 91936908 91936908 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr7:91936908G>A c.424G>A c.(424-426)Gat>Aat p.D142N CESC 7 92027863 92027863 + Missense_Mutation SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 g.chr7:92027863A>G c.2870A>G c.(2869-2871)gAc>gGc p.D957G CHOL 7 92027127 92027127 + Missense_Mutation SNP G G T TCGA-W5-AA2W-01A-11D-A417-09 TCGA-W5-AA2W-10A-01D-A41A-09 g.chr7:92027127G>T c.2486G>T c.(2485-2487)cGt>cTt p.R829L COAD 7 91936936 91936936 + Missense_Mutation SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:91936936A>G c.452A>G c.(451-453)tAt>tGt p.Y151C COAD 7 91948655 91948655 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:91948655A>C c.498A>C c.(496-498)aaA>aaC p.K166N COAD 7 91948770 91948770 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr7:91948770C>T c.613C>T c.(613-615)Cgg>Tgg p.R205W COAD 7 91980278 91980278 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:91980278A>G c.1100A>G c.(1099-1101)aAa>aGa p.K367R COAD 7 91980380 91980380 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:91980380A>G c.1202A>G c.(1201-1203)gAc>gGc p.D401G COAD 7 92015835 92015836 + Frame_Shift_Del DEL TT TT - TCGA-AA-A01X-01A-21W-A096-10 TCGA-AA-A01X-11A-11W-A096-10 g.chr7:92015835_92015836delTT c.1630_1631delTT c.(1630-1632)tttfs p.F544fs COAD 7 92015875 92015875 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:92015875C>T c.1670C>T c.(1669-1671)tCg>tTg p.S557L COAD 7 92017328 92017328 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:92017328G>A c.1879G>A c.(1879-1881)Gag>Aag p.E627K COAD 7 92019302 92019302 + Missense_Mutation SNP G G T TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr7:92019302G>T c.1924G>T c.(1924-1926)Gat>Tat p.D642Y COAD 7 92019350 92019350 + Missense_Mutation SNP C C T TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr7:92019350C>T c.1972C>T c.(1972-1974)Cgc>Tgc p.R658C COAD 7 92020506 92020506 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:92020506C>T c.2079C>T c.(2077-2079)gaC>gaT p.D693D COAD 7 92020537 92020537 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:92020537C>T c.2110C>T c.(2110-2112)Cgc>Tgc p.R704C COADREAD 7 91936790 91936790 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:91936790C>A c.306C>A c.(304-306)cgC>cgA p.R102R COADREAD 7 91936936 91936936 + Missense_Mutation SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:91936936A>G c.452A>G c.(451-453)tAt>tGt p.Y151C COADREAD 7 91948655 91948655 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:91948655A>C c.498A>C c.(496-498)aaA>aaC p.K166N COADREAD 7 91948770 91948770 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr7:91948770C>T c.613C>T c.(613-615)Cgg>Tgg p.R205W COADREAD 7 91980278 91980278 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:91980278A>G c.1100A>G c.(1099-1101)aAa>aGa p.K367R COADREAD 7 91980380 91980380 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:91980380A>G c.1202A>G c.(1201-1203)gAc>gGc p.D401G COADREAD 7 92015835 92015836 + Frame_Shift_Del DEL TT TT - TCGA-AA-A01X-01A-21W-A096-10 TCGA-AA-A01X-11A-11W-A096-10 g.chr7:92015835_92015836delTT c.1630_1631delTT c.(1630-1632)tttfs p.F544fs COADREAD 7 92015875 92015875 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:92015875C>T c.1670C>T c.(1669-1671)tCg>tTg p.S557L COADREAD 7 92017328 92017328 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:92017328G>A c.1879G>A c.(1879-1881)Gag>Aag p.E627K COADREAD 7 92019302 92019302 + Missense_Mutation SNP G G T TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr7:92019302G>T c.1924G>T c.(1924-1926)Gat>Tat p.D642Y COADREAD 7 92019350 92019350 + Missense_Mutation SNP C C T TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr7:92019350C>T c.1972C>T c.(1972-1974)Cgc>Tgc p.R658C COADREAD 7 92020506 92020506 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:92020506C>T c.2079C>T c.(2077-2079)gaC>gaT p.D693D COADREAD 7 92020537 92020537 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:92020537C>T c.2110C>T c.(2110-2112)Cgc>Tgc p.R704C COADREAD 7 92027925 92027925 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:92027925C>A c.2932C>A c.(2932-2934)Cat>Aat p.H978N DLBC 7 92027064 92027064 + Missense_Mutation SNP G G T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr7:92027064G>T c.2423G>T c.(2422-2424)cGc>cTc p.R808L ESCA 7 91974350 91974350 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr7:91974350G>T c.1055G>T c.(1054-1056)gGa>gTa p.G352V GBM 7 91991520 91991520 + Missense_Mutation SNP T T A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr7:91991520T>A c.1419T>A c.(1417-1419)caT>caA p.H473Q GBMLGG 7 91981897 91981897 + Silent SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 g.chr7:91981897C>T c.1338C>T c.(1336-1338)ctC>ctT p.L446L GBMLGG 7 91991520 91991520 + Missense_Mutation SNP T T A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr7:91991520T>A c.1419T>A c.(1417-1419)caT>caA p.H473Q HNSC 7 91936800 91936800 + Missense_Mutation SNP C C T TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chr7:91936800C>T c.316C>T c.(316-318)Ccc>Tcc p.P106S HNSC 7 91948721 91948721 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:91948721A>G c.564A>G c.(562-564)caA>caG p.Q188Q HNSC 7 91972488 91972488 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:91972488C>T c.938C>T c.(937-939)tCt>tTt p.S313F HNSC 7 91972502 91972502 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:91972502C>T c.952C>T c.(952-954)Cca>Tca p.P318S HNSC 7 92015905 92015905 + Missense_Mutation SNP G G A TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr7:92015905G>A c.1700G>A c.(1699-1701)cGc>cAc p.R567H HNSC 7 92027054 92027054 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr7:92027054A>G c.2413A>G c.(2413-2415)Agc>Ggc p.S805G HNSC 7 92027950 92027950 + Missense_Mutation SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 g.chr7:92027950C>T c.2957C>T c.(2956-2958)gCc>gTc p.A986V KICH 7 91948698 91948698 + Missense_Mutation SNP C C T TCGA-KL-8344-01A-11D-2310-10 TCGA-KL-8344-11A-01D-2310-10 g.chr7:91948698C>T c.541C>T c.(541-543)Cct>Tct p.P181S KIPAN 7 91924303 91924303 + Missense_Mutation SNP C C A TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr7:91924303C>A c.11C>A c.(10-12)aCa>aAa p.T4K KIPAN 7 91948698 91948698 + Missense_Mutation SNP C C T TCGA-KL-8344-01A-11D-2310-10 TCGA-KL-8344-11A-01D-2310-10 g.chr7:91948698C>T c.541C>T c.(541-543)Cct>Tct p.P181S KIPAN 7 91974300 91974310 + Frame_Shift_Del DEL TTGTATGTGCA TTGTATGTGCA - TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr7:91974300_91974310delTTGTATGTGCA c.1005_1015delTTGTATGTGCA c.(1003-1017)atttgtatgtgcagtfs p.ICMCS335fs KIPAN 7 92019370 92019370 + Silent SNP T T C TCGA-BQ-5884-01A-11D-1589-08 TCGA-BQ-5884-11A-01D-1589-08 g.chr7:92019370T>C c.1992T>C c.(1990-1992)taT>taC p.Y664Y KIPAN 7 92027037 92027038 + Splice_Site DEL AT AT - TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr7:92027037_92027038delAT c.2396_2397delAT c.(2395-2397)gat>g p.D799fs KIPAN 7 92027912 92027912 + Silent SNP C C A TCGA-A3-3376-01A-02D-1421-08 TCGA-A3-3376-11A-01D-1421-08 g.chr7:92027912C>A c.2919C>A c.(2917-2919)atC>atA p.I973I KIRC 7 91924303 91924303 + Missense_Mutation SNP C C A TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr7:91924303C>A c.11C>A c.(10-12)aCa>aAa p.T4K KIRC 7 91974300 91974310 + Frame_Shift_Del DEL TTGTATGTGCA TTGTATGTGCA - TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr7:91974300_91974310delTTGTATGTGCA c.1005_1015delTTGTATGTGCA c.(1003-1017)atttgtatgtgcagtfs p.ICMCS335fs KIRC 7 92027037 92027038 + Splice_Site DEL AT AT - TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr7:92027037_92027038delAT c.2396_2397delAT c.(2395-2397)gat>g p.D799fs KIRC 7 92027912 92027912 + Silent SNP C C A TCGA-A3-3376-01A-02D-1421-08 TCGA-A3-3376-11A-01D-1421-08 g.chr7:92027912C>A c.2919C>A c.(2917-2919)atC>atA p.I973I KIRP 7 92019370 92019370 + Silent SNP T T C TCGA-BQ-5884-01A-11D-1589-08 TCGA-BQ-5884-11A-01D-1589-08 g.chr7:92019370T>C c.1992T>C c.(1990-1992)taT>taC p.Y664Y LGG 7 91981897 91981897 + Silent SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 g.chr7:91981897C>T c.1338C>T c.(1336-1338)ctC>ctT p.L446L LIHC 7 91936908 91936908 + Missense_Mutation SNP G G C TCGA-DD-A3A8-01A-11D-A22F-10 TCGA-DD-A3A8-11A-11D-A22F-10 g.chr7:91936908G>C c.424G>C c.(424-426)Gat>Cat p.D142H LIHC 7 91980374 91980374 + Missense_Mutation SNP A A G TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr7:91980374A>G c.1196A>G c.(1195-1197)gAg>gGg p.E399G LIHC 7 92015870 92015870 + Missense_Mutation SNP T T G TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr7:92015870T>G c.1665T>G c.(1663-1665)caT>caG p.H555Q LIHC 7 92027849 92027849 + Silent SNP A A G TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr7:92027849A>G c.2856A>G c.(2854-2856)tcA>tcG p.S952S LIHC 7 92028083 92028083 + Silent SNP T T C TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr7:92028083T>C c.3090T>C c.(3088-3090)agT>agC p.S1030S LUAD 7 91972513 91972513 + Silent SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr7:91972513C>A c.963C>A c.(961-963)atC>atA p.I321I LUAD 7 91972526 91972526 + Missense_Mutation SNP G G A TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr7:91972526G>A c.976G>A c.(976-978)Ggg>Agg p.G326R LUAD 7 91980320 91980320 + Missense_Mutation SNP A A T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr7:91980320A>T c.1142A>T c.(1141-1143)tAt>tTt p.Y381F LUAD 7 91980363 91980363 + Silent SNP A A C TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr7:91980363A>C c.1185A>C c.(1183-1185)gtA>gtC p.V395V LUAD 7 92000797 92000797 + Missense_Mutation SNP G G C TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr7:92000797G>C c.1493G>C c.(1492-1494)gGa>gCa p.G498A LUAD 7 92000845 92000845 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 g.chr7:92000845C>A c.1541C>A c.(1540-1542)aCt>aAt p.T514N LUAD 7 92015842 92015842 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr7:92015842G>T c.1637G>T c.(1636-1638)tGg>tTg p.W546L LUAD 7 92015853 92015853 + Missense_Mutation SNP G G A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr7:92015853G>A c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K LUAD 7 92017135 92017135 + Silent SNP T T C TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr7:92017135T>C c.1776T>C c.(1774-1776)ttT>ttC p.F592F LUAD 7 92017137 92017137 + Missense_Mutation SNP A A C TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr7:92017137A>C c.1778A>C c.(1777-1779)cAg>cCg p.Q593P LUAD 7 92017170 92017170 + Missense_Mutation SNP G G T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr7:92017170G>T c.1811G>T c.(1810-1812)aGa>aTa p.R604I LUAD 7 92020624 92020624 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr7:92020624G>C c.2197G>C c.(2197-2199)Gct>Cct p.A733P LUAD 7 92021572 92021572 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr7:92021572G>C c.2249G>C c.(2248-2250)tGg>tCg p.W750S LUAD 7 92027594 92027594 + Silent SNP T T C TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr7:92027594T>C c.2601T>C c.(2599-2601)tcT>tcC p.S867S LUAD 7 92027912 92027912 + Silent SNP C C T TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr7:92027912C>T c.2919C>T c.(2917-2919)atC>atT p.I973I LUAD 7 92027963 92027963 + Silent SNP A A T TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr7:92027963A>T c.2970A>T c.(2968-2970)ccA>ccT p.P990P LUAD 7 92027978 92027978 + Silent SNP C C T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:92027978C>T c.2985C>T c.(2983-2985)atC>atT p.I995I LUSC 7 91936822 91936822 + Missense_Mutation SNP G G C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr7:91936822G>C c.338G>C c.(337-339)aGa>aCa p.R113T LUSC 7 91974291 91974291 + Splice_Site SNP G G A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 g.chr7:91974291G>A c.e7-1 LUSC 7 91980322 91980322 + Missense_Mutation SNP G G C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr7:91980322G>C c.1144G>C c.(1144-1146)Gat>Cat p.D382H LUSC 7 92000830 92000830 + Missense_Mutation SNP G G T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr7:92000830G>T c.1526G>T c.(1525-1527)tGt>tTt p.C509F LUSC 7 92019373 92019373 + Silent SNP A A T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr7:92019373A>T c.1995A>T c.(1993-1995)ccA>ccT p.P665P LUSC 7 92027064 92027064 + Missense_Mutation SNP G G T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 g.chr7:92027064G>T c.2423G>T c.(2422-2424)cGc>cTc p.R808L LUSC 7 92027143 92027143 + Silent SNP C C T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr7:92027143C>T c.2502C>T c.(2500-2502)gcC>gcT p.A834A LUSC 7 92027579 92027579 + Silent SNP A A G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr7:92027579A>G c.2586A>G c.(2584-2586)ttA>ttG p.L862L LUSC 7 92027804 92027804 + Silent SNP G G A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr7:92027804G>A c.2811G>A c.(2809-2811)ctG>ctA p.L937L LUSC 7 92028042 92028042 + Missense_Mutation SNP G G C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr7:92028042G>C c.3049G>C c.(3049-3051)Gtg>Ctg p.V1017L PAAD 7 92027712 92027712 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:92027712C>T c.2719C>T c.(2719-2721)Cgg>Tgg p.R907W PAAD 7 92027950 92027950 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:92027950C>A c.2957C>A c.(2956-2958)gCc>gAc p.A986D PRAD 7 92020490 92020490 + Missense_Mutation SNP A A G TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 g.chr7:92020490A>G c.2063A>G c.(2062-2064)gAa>gGa p.E688G PRAD 7 92027931 92027931 + Missense_Mutation SNP A A G TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 g.chr7:92027931A>G c.2938A>G c.(2938-2940)Atg>Gtg p.M980V READ 7 91936790 91936790 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:91936790C>A c.306C>A c.(304-306)cgC>cgA p.R102R READ 7 92027925 92027925 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:92027925C>A c.2932C>A c.(2932-2934)Cat>Aat p.H978N SKCM 7 91924316 91924316 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr7:91924316C>T c.24C>T c.(22-24)ttC>ttT p.F8F SKCM 7 91936786 91936786 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr7:91936786C>T c.302C>T c.(301-303)cCt>cTt p.P101L SKCM 7 91936884 91936884 + Nonsense_Mutation SNP G G T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr7:91936884G>T c.400G>T c.(400-402)Gag>Tag p.E134* SKCM 7 91972374 91972374 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr7:91972374C>T c.824C>T c.(823-825)tCc>tTc p.S275F SKCM 7 92019357 92019357 + Missense_Mutation SNP T T C TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr7:92019357T>C c.1979T>C c.(1978-1980)cTc>cCc p.L660P SKCM 7 92025742 92025742 + Silent SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr7:92025742C>T c.2347C>T c.(2347-2349)Cta>Tta p.L783L SKCM 7 92027138 92027138 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:92027138C>T c.2497C>T c.(2497-2499)Cct>Tct p.P833S SKCM 7 92027171 92027171 + Nonsense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr7:92027171C>T c.2530C>T c.(2530-2532)Cag>Tag p.Q844* SKCM 7 92027859 92027859 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:92027859C>T c.2866C>T c.(2866-2868)Cct>Tct p.P956S SKCM 7 92027925 92027925 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr7:92027925C>T c.2932C>T c.(2932-2934)Cat>Tat p.H978Y SKCM 7 92027937 92027937 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr7:92027937C>T c.2944C>T c.(2944-2946)Cct>Tct p.P982S SKCM 7 92027958 92027958 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:92027958C>T c.2965C>T c.(2965-2967)Cct>Tct p.P989S

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 7 92028039 92028039 single base substitution C A 3_prime_UTR_variant BLCA-CN 7 92028039 92028039 single base substitution C A downstream_gene_variant BLCA-CN 7 92028039 92028039 single base substitution C A missense_variant L1016M 3046C>A BLCA-US 7 91972349 91972349 single base substitution G C 3_prime_UTR_variant BLCA-US 7 91972349 91972349 single base substitution G C missense_variant E267Q 799G>C BLCA-US 7 91972349 91972349 single base substitution G C upstream_gene_variant BLCA-US 7 91981821 91981821 single base substitution G A 3_prime_UTR_variant BLCA-US 7 91981821 91981821 single base substitution G A stop_gained W421* 1262G>A BLCA-US 7 91981845 91981845 single base substitution G C 3_prime_UTR_variant BLCA-US 7 91981845 91981845 single base substitution G C missense_variant R429T 1286G>C BLCA-US 7 91981884 91981884 single base substitution G T 3_prime_UTR_variant BLCA-US 7 91981884 91981884 single base substitution G T missense_variant G442V 1325G>T BLCA-US 7 92027682 92027682 single base substitution G C 3_prime_UTR_variant BLCA-US 7 92027682 92027682 single base substitution G C downstream_gene_variant BLCA-US 7 92027682 92027682 single base substitution G C missense_variant D897H 2689G>C BLCA-US 7 92027739 92027739 single base substitution T G 3_prime_UTR_variant BLCA-US 7 92027739 92027739 single base substitution T G downstream_gene_variant BLCA-US 7 92027739 92027739 single base substitution T G missense_variant L916V 2746T>G BLCA-US 7 92027928 92027928 single base substitution G C 3_prime_UTR_variant BLCA-US 7 92027928 92027928 single base substitution G C downstream_gene_variant BLCA-US 7 92027928 92027928 single base substitution G C missense_variant D979H 2935G>C BOCA-FR 7 91946507 91946507 single base substitution A G intron_variant BOCA-FR 7 91946507 91946507 single base substitution A G upstream_gene_variant BRCA-EU 7 91871156 91871156 single base substitution T G upstream_gene_variant BRCA-EU 7 91871467 91871467 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 91871522 91871522 single base substitution A T upstream_gene_variant BRCA-EU 7 91872016 91872016 single base substitution C G upstream_gene_variant BRCA-EU 7 91872201 91872201 single base substitution C T upstream_gene_variant BRCA-EU 7 91872432 91872432 single base substitution C T upstream_gene_variant BRCA-EU 7 91872467 91872468 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 7 91875609 91875609 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 91875927 91875927 single base substitution A G intron_variant BRCA-EU 7 91876823 91876823 single base substitution C G intron_variant BRCA-EU 7 91877624 91877624 single base substitution C G intron_variant BRCA-EU 7 91879240 91879240 single base substitution T A intron_variant BRCA-EU 7 91880494 91880498 deletion of <=200bp TAAAT - intron_variant BRCA-EU 7 91882056 91882056 single base substitution C G intron_variant BRCA-EU 7 91882337 91882337 single base substitution T C intron_variant BRCA-EU 7 91882704 91882704 single base substitution G A intron_variant BRCA-EU 7 91885635 91885635 single base substitution G C intron_variant BRCA-EU 7 91886255 91886255 single base substitution G T intron_variant BRCA-EU 7 91886904 91886904 single base substitution C T intron_variant BRCA-EU 7 91887623 91887623 single base substitution C T intron_variant BRCA-EU 7 91887972 91887972 single base substitution T A intron_variant BRCA-EU 7 91888278 91888278 insertion of <=200bp - T intron_variant BRCA-EU 7 91888521 91888521 single base substitution C T intron_variant BRCA-EU 7 91889984 91889984 single base substitution G A intron_variant BRCA-EU 7 91890343 91890343 single base substitution A T intron_variant BRCA-EU 7 91890792 91890792 single base substitution G C intron_variant BRCA-EU 7 91890905 91890905 deletion of <=200bp T - intron_variant BRCA-EU 7 91891763 91891763 single base substitution A C intron_variant BRCA-EU 7 91893626 91893626 single base substitution A G intron_variant BRCA-EU 7 91893889 91893889 deletion of <=200bp T - intron_variant BRCA-EU 7 91894617 91894617 single base substitution G T intron_variant BRCA-EU 7 91895823 91895827 deletion of <=200bp TGGGA - intron_variant BRCA-EU 7 91896906 91896906 single base substitution G A intron_variant BRCA-EU 7 91898927 91898927 single base substitution A T intron_variant BRCA-EU 7 91899117 91899117 insertion of <=200bp - A intron_variant BRCA-EU 7 91899118 91899118 single base substitution A T intron_variant BRCA-EU 7 91899125 91899125 single base substitution T A intron_variant BRCA-EU 7 91899961 91899961 single base substitution C A intron_variant BRCA-EU 7 91901345 91901345 single base substitution G A intron_variant BRCA-EU 7 91901530 91901530 single base substitution C T intron_variant BRCA-EU 7 91906273 91906273 single base substitution G C intron_variant BRCA-EU 7 91906853 91906853 single base substitution G T intron_variant BRCA-EU 7 91909125 91909125 single base substitution T A intron_variant BRCA-EU 7 91910987 91910987 single base substitution T C intron_variant BRCA-EU 7 91912109 91912109 single base substitution G C intron_variant BRCA-EU 7 91914169 91914169 single base substitution C G intron_variant BRCA-EU 7 91914838 91914838 single base substitution C T intron_variant BRCA-EU 7 91916745 91916745 single base substitution C G intron_variant BRCA-EU 7 91917061 91917061 single base substitution A G intron_variant BRCA-EU 7 91918196 91918196 single base substitution A C intron_variant BRCA-EU 7 91919654 91919654 single base substitution G A intron_variant BRCA-EU 7 91919654 91919654 single base substitution G A upstream_gene_variant BRCA-EU 7 91919885 91919885 single base substitution G A intron_variant BRCA-EU 7 91919885 91919885 single base substitution G A upstream_gene_variant BRCA-EU 7 91920790 91920790 single base substitution G C intron_variant BRCA-EU 7 91920790 91920790 single base substitution G C upstream_gene_variant BRCA-EU 7 91921696 91921696 single base substitution T A intron_variant BRCA-EU 7 91921696 91921696 single base substitution T A upstream_gene_variant BRCA-EU 7 91923338 91923338 deletion of <=200bp T - intron_variant BRCA-EU 7 91923338 91923338 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 91924405 91924405 single base substitution C A missense_variant T38K 113C>A BRCA-EU 7 91926327 91926327 single base substitution A G intron_variant BRCA-EU 7 91928389 91928389 single base substitution G C intron_variant BRCA-EU 7 91932538 91932538 single base substitution A G intron_variant BRCA-EU 7 91932538 91932538 single base substitution A G upstream_gene_variant BRCA-EU 7 91932772 91932772 single base substitution G C intron_variant BRCA-EU 7 91932772 91932772 single base substitution G C upstream_gene_variant BRCA-EU 7 91934621 91934621 single base substitution C G intron_variant BRCA-EU 7 91934621 91934621 single base substitution C G upstream_gene_variant BRCA-EU 7 91935075 91935075 single base substitution G C intron_variant BRCA-EU 7 91935075 91935075 single base substitution G C upstream_gene_variant BRCA-EU 7 91935404 91935404 single base substitution C G intron_variant BRCA-EU 7 91935404 91935404 single base substitution C G upstream_gene_variant BRCA-EU 7 91935424 91935424 single base substitution G T intron_variant BRCA-EU 7 91935424 91935424 single base substitution G T upstream_gene_variant BRCA-EU 7 91936210 91936210 single base substitution A G intron_variant BRCA-EU 7 91936210 91936210 single base substitution A G upstream_gene_variant BRCA-EU 7 91936786 91936786 single base substitution C T exon_variant BRCA-EU 7 91936786 91936786 single base substitution C T missense_variant P101L 302C>T BRCA-EU 7 91938335 91938335 single base substitution C G downstream_gene_variant BRCA-EU 7 91938335 91938335 single base substitution C G intron_variant BRCA-EU 7 91940102 91940102 single base substitution T C downstream_gene_variant BRCA-EU 7 91940102 91940102 single base substitution T C intron_variant BRCA-EU 7 91941038 91941038 single base substitution C A downstream_gene_variant BRCA-EU 7 91941038 91941038 single base substitution C A intron_variant BRCA-EU 7 91941506 91941506 single base substitution G A downstream_gene_variant BRCA-EU 7 91941506 91941506 single base substitution G A intron_variant BRCA-EU 7 91942373 91942373 single base substitution G A intron_variant BRCA-EU 7 91942689 91942689 single base substitution A T intron_variant BRCA-EU 7 91943212 91943212 single base substitution G A intron_variant BRCA-EU 7 91943347 91943347 single base substitution C G intron_variant BRCA-EU 7 91944101 91944101 single base substitution A T intron_variant BRCA-EU 7 91944101 91944101 single base substitution A T upstream_gene_variant BRCA-EU 7 91946024 91946024 single base substitution C G intron_variant BRCA-EU 7 91946024 91946024 single base substitution C G upstream_gene_variant BRCA-EU 7 91946828 91946828 single base substitution C G intron_variant BRCA-EU 7 91946828 91946828 single base substitution C G upstream_gene_variant BRCA-EU 7 91948671 91948671 single base substitution T A exon_variant BRCA-EU 7 91948671 91948671 single base substitution T A missense_variant F172I 514T>A BRCA-EU 7 91948671 91948671 single base substitution T A upstream_gene_variant BRCA-EU 7 91950447 91950447 single base substitution G C downstream_gene_variant BRCA-EU 7 91950447 91950447 single base substitution G C intron_variant BRCA-EU 7 91951242 91951242 single base substitution C G downstream_gene_variant BRCA-EU 7 91951242 91951242 single base substitution C G intron_variant BRCA-EU 7 91952226 91952226 single base substitution C G downstream_gene_variant BRCA-EU 7 91952226 91952226 single base substitution C G intron_variant BRCA-EU 7 91953522 91953522 single base substitution T A downstream_gene_variant BRCA-EU 7 91953522 91953522 single base substitution T A intron_variant BRCA-EU 7 91953532 91953532 single base substitution G C downstream_gene_variant BRCA-EU 7 91953532 91953532 single base substitution G C intron_variant BRCA-EU 7 91953768 91953768 single base substitution G C downstream_gene_variant BRCA-EU 7 91953768 91953768 single base substitution G C intron_variant BRCA-EU 7 91954460 91954460 single base substitution G C intron_variant BRCA-EU 7 91955685 91955685 single base substitution G C intron_variant BRCA-EU 7 91956463 91956463 single base substitution C G intron_variant BRCA-EU 7 91957012 91957012 single base substitution G C intron_variant BRCA-EU 7 91957306 91957306 single base substitution G T intron_variant BRCA-EU 7 91958036 91958036 single base substitution G A intron_variant BRCA-EU 7 91959811 91959811 single base substitution T G intron_variant BRCA-EU 7 91960781 91960781 single base substitution C T intron_variant BRCA-EU 7 91961201 91961201 single base substitution A G intron_variant BRCA-EU 7 91961408 91961408 single base substitution A G intron_variant BRCA-EU 7 91962118 91962118 single base substitution C A intron_variant BRCA-EU 7 91962269 91962269 single base substitution G C intron_variant BRCA-EU 7 91962482 91962482 single base substitution A T intron_variant BRCA-EU 7 91962831 91962831 single base substitution C G intron_variant BRCA-EU 7 91963370 91963370 single base substitution G C intron_variant BRCA-EU 7 91964706 91964706 single base substitution A G intron_variant BRCA-EU 7 91966937 91966937 single base substitution A G intron_variant BRCA-EU 7 91967513 91967513 single base substitution C T intron_variant BRCA-EU 7 91967513 91967513 single base substitution C T upstream_gene_variant BRCA-EU 7 91969412 91969412 deletion of <=200bp T - intron_variant BRCA-EU 7 91969412 91969412 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 91970729 91970729 single base substitution T A intron_variant BRCA-EU 7 91970729 91970729 single base substitution T A upstream_gene_variant BRCA-EU 7 91974434 91974434 single base substitution T C downstream_gene_variant BRCA-EU 7 91974434 91974434 single base substitution T C intron_variant BRCA-EU 7 91975132 91975132 single base substitution G T downstream_gene_variant BRCA-EU 7 91975132 91975132 single base substitution G T intron_variant BRCA-EU 7 91975809 91975809 single base substitution C A downstream_gene_variant BRCA-EU 7 91975809 91975809 single base substitution C A intron_variant BRCA-EU 7 91978909 91978909 single base substitution A G intron_variant BRCA-EU 7 91979187 91979187 single base substitution T A intron_variant BRCA-EU 7 91979616 91979616 single base substitution G A intron_variant BRCA-EU 7 91979783 91979783 single base substitution T A intron_variant BRCA-EU 7 91980456 91980456 single base substitution T C intron_variant BRCA-EU 7 91982028 91982028 single base substitution G C intron_variant BRCA-EU 7 91982227 91982227 single base substitution C G intron_variant BRCA-EU 7 91982496 91982496 single base substitution G C intron_variant BRCA-EU 7 91983158 91983158 single base substitution G A intron_variant BRCA-EU 7 91983161 91983162 deletion of <=200bp AG - intron_variant BRCA-EU 7 91984091 91984091 single base substitution T G intron_variant BRCA-EU 7 91985273 91985273 single base substitution A C intron_variant BRCA-EU 7 91985571 91985571 single base substitution G A intron_variant BRCA-EU 7 91987385 91987385 single base substitution T C intron_variant BRCA-EU 7 91988483 91988483 single base substitution C T intron_variant BRCA-EU 7 91989453 91989453 single base substitution C T intron_variant BRCA-EU 7 91989589 91989589 single base substitution A G intron_variant BRCA-EU 7 91992368 91992368 single base substitution A T downstream_gene_variant BRCA-EU 7 91992368 91992368 single base substitution A T intron_variant BRCA-EU 7 91993141 91993141 single base substitution C A downstream_gene_variant BRCA-EU 7 91993141 91993141 single base substitution C A intron_variant BRCA-EU 7 91994656 91994656 single base substitution G A downstream_gene_variant BRCA-EU 7 91994656 91994656 single base substitution G A intron_variant BRCA-EU 7 91997877 91997877 deletion of <=200bp A - intron_variant BRCA-EU 7 91997877 91997877 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 91998074 91998074 single base substitution G C intron_variant BRCA-EU 7 91998074 91998074 single base substitution G C upstream_gene_variant BRCA-EU 7 91999776 91999776 single base substitution C T intron_variant BRCA-EU 7 91999776 91999776 single base substitution C T upstream_gene_variant BRCA-EU 7 92000177 92000177 single base substitution A G intron_variant BRCA-EU 7 92000177 92000177 single base substitution A G upstream_gene_variant BRCA-EU 7 92000502 92000502 deletion of <=200bp A - intron_variant BRCA-EU 7 92000502 92000502 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 92000619 92000619 single base substitution G C intron_variant BRCA-EU 7 92000619 92000619 single base substitution G C upstream_gene_variant BRCA-EU 7 92000724 92000724 deletion of <=200bp T - intron_variant BRCA-EU 7 92000724 92000724 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 92000732 92000732 single base substitution T C intron_variant BRCA-EU 7 92000732 92000732 single base substitution T C upstream_gene_variant BRCA-EU 7 92001543 92001543 single base substitution A C intron_variant BRCA-EU 7 92003779 92003779 single base substitution C T intron_variant BRCA-EU 7 92004152 92004152 deletion of <=200bp A - intron_variant BRCA-EU 7 92005681 92005681 single base substitution G T intron_variant BRCA-EU 7 92006798 92006798 single base substitution G A intron_variant BRCA-EU 7 92006998 92006998 single base substitution C A intron_variant BRCA-EU 7 92007545 92007545 deletion of <=200bp T - intron_variant BRCA-EU 7 92007794 92007794 single base substitution C G intron_variant BRCA-EU 7 92007921 92007921 single base substitution T A intron_variant BRCA-EU 7 92008342 92008342 single base substitution T C intron_variant BRCA-EU 7 92008376 92008376 single base substitution C T intron_variant BRCA-EU 7 92008446 92008446 single base substitution A G intron_variant BRCA-EU 7 92008631 92008631 single base substitution G A intron_variant BRCA-EU 7 92008705 92008705 deletion of <=200bp A - intron_variant BRCA-EU 7 92009203 92009203 single base substitution C A intron_variant BRCA-EU 7 92009520 92009520 single base substitution G C intron_variant BRCA-EU 7 92009716 92009716 single base substitution G C intron_variant BRCA-EU 7 92010258 92010258 single base substitution A G intron_variant BRCA-EU 7 92011935 92011935 single base substitution A G intron_variant BRCA-EU 7 92012361 92012361 single base substitution G A intron_variant BRCA-EU 7 92012790 92012790 single base substitution G C intron_variant BRCA-EU 7 92013064 92013064 single base substitution A C intron_variant BRCA-EU 7 92015008 92015008 single base substitution A G intron_variant BRCA-EU 7 92015049 92015049 single base substitution G A intron_variant BRCA-EU 7 92018451 92018451 deletion of <=200bp A - intron_variant BRCA-EU 7 92018590 92018590 single base substitution G C intron_variant BRCA-EU 7 92020726 92020726 single base substitution A G intron_variant BRCA-EU 7 92020726 92020726 single base substitution A G upstream_gene_variant BRCA-EU 7 92021644 92021644 single base substitution C G intron_variant BRCA-EU 7 92021644 92021644 single base substitution C G upstream_gene_variant BRCA-EU 7 92022065 92022065 single base substitution G C intron_variant BRCA-EU 7 92022065 92022065 single base substitution G C upstream_gene_variant BRCA-EU 7 92022306 92022306 single base substitution C T intron_variant BRCA-EU 7 92022306 92022306 single base substitution C T upstream_gene_variant BRCA-EU 7 92022674 92022674 single base substitution G T intron_variant BRCA-EU 7 92022674 92022674 single base substitution G T upstream_gene_variant BRCA-EU 7 92022713 92022713 single base substitution A G intron_variant BRCA-EU 7 92022713 92022713 single base substitution A G upstream_gene_variant BRCA-EU 7 92023252 92023252 single base substitution T G intron_variant BRCA-EU 7 92023252 92023252 single base substitution T G upstream_gene_variant BRCA-EU 7 92023360 92023360 single base substitution G C intron_variant BRCA-EU 7 92023360 92023360 single base substitution G C upstream_gene_variant BRCA-EU 7 92024687 92024687 single base substitution A T intron_variant BRCA-EU 7 92024687 92024687 single base substitution A T upstream_gene_variant BRCA-EU 7 92026236 92026236 single base substitution A C intron_variant BRCA-EU 7 92026530 92026530 single base substitution G A intron_variant BRCA-EU 7 92027463 92027463 single base substitution G C downstream_gene_variant BRCA-EU 7 92027463 92027463 single base substitution G C intron_variant BRCA-EU 7 92027888 92027888 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 92027888 92027888 single base substitution C T downstream_gene_variant BRCA-EU 7 92027888 92027888 single base substitution C T synonymous_variant I965I 2895C>T BRCA-EU 7 92028641 92028641 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 92028641 92028641 single base substitution T C downstream_gene_variant BRCA-EU 7 92028724 92028724 single base substitution T G 3_prime_UTR_variant BRCA-EU 7 92028724 92028724 single base substitution T G downstream_gene_variant BRCA-EU 7 92029083 92029083 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 92029083 92029083 single base substitution C G downstream_gene_variant BRCA-EU 7 92031469 92031469 single base substitution G C downstream_gene_variant BRCA-EU 7 92032691 92032691 single base substitution C T downstream_gene_variant BRCA-EU 7 92033105 92033105 single base substitution G C downstream_gene_variant BRCA-EU 7 92034632 92034632 single base substitution C T downstream_gene_variant BRCA-FR 7 91872432 91872432 single base substitution C T upstream_gene_variant BRCA-FR 7 91877624 91877624 single base substitution C G intron_variant BRCA-FR 7 91882056 91882056 single base substitution C G intron_variant BRCA-FR 7 91901345 91901345 single base substitution G A intron_variant BRCA-FR 7 91912109 91912109 single base substitution G C intron_variant BRCA-FR 7 91914169 91914169 single base substitution C G intron_variant BRCA-FR 7 91917181 91917181 single base substitution C G intron_variant BRCA-FR 7 91920790 91920790 single base substitution G C intron_variant BRCA-FR 7 91920790 91920790 single base substitution G C upstream_gene_variant BRCA-FR 7 91941038 91941038 single base substitution C A downstream_gene_variant BRCA-FR 7 91941038 91941038 single base substitution C A intron_variant BRCA-FR 7 91951385 91951385 single base substitution G T downstream_gene_variant BRCA-FR 7 91951385 91951385 single base substitution G T intron_variant BRCA-FR 7 91967513 91967513 single base substitution C T intron_variant BRCA-FR 7 91967513 91967513 single base substitution C T upstream_gene_variant BRCA-FR 7 91975132 91975132 single base substitution G T downstream_gene_variant BRCA-FR 7 91975132 91975132 single base substitution G T intron_variant BRCA-FR 7 91982028 91982028 single base substitution G C intron_variant BRCA-FR 7 91985273 91985273 single base substitution A C intron_variant BRCA-FR 7 91989453 91989453 single base substitution C T intron_variant BRCA-FR 7 91998074 91998074 single base substitution G C intron_variant BRCA-FR 7 91998074 91998074 single base substitution G C upstream_gene_variant BRCA-FR 7 91999509 91999509 single base substitution G A intron_variant BRCA-FR 7 91999509 91999509 single base substitution G A upstream_gene_variant BRCA-FR 7 92009520 92009520 single base substitution G A intron_variant BRCA-FR 7 92012361 92012361 single base substitution G A intron_variant BRCA-FR 7 92022065 92022065 single base substitution G C intron_variant BRCA-FR 7 92022065 92022065 single base substitution G C upstream_gene_variant BRCA-FR 7 92022674 92022674 single base substitution G T intron_variant BRCA-FR 7 92022674 92022674 single base substitution G T upstream_gene_variant BRCA-UK 7 91889093 91889093 single base substitution C T intron_variant BRCA-UK 7 91904212 91904212 single base substitution G C intron_variant BRCA-UK 7 91909789 91909789 single base substitution G A intron_variant BRCA-UK 7 91940102 91940102 single base substitution T C downstream_gene_variant BRCA-UK 7 91940102 91940102 single base substitution T C intron_variant BRCA-UK 7 91958939 91958939 single base substitution C T intron_variant BRCA-UK 7 91960766 91960766 single base substitution G C intron_variant BRCA-UK 7 92011479 92011479 single base substitution G A intron_variant BRCA-UK 7 92011935 92011935 single base substitution A G intron_variant BRCA-UK 7 92018590 92018590 single base substitution G C intron_variant BRCA-UK 7 92020726 92020726 single base substitution A G intron_variant BRCA-UK 7 92020726 92020726 single base substitution A G upstream_gene_variant BRCA-UK 7 92028724 92028724 single base substitution T G 3_prime_UTR_variant BRCA-UK 7 92028724 92028724 single base substitution T G downstream_gene_variant BRCA-US 7 91991574 91991574 single base substitution G A 3_prime_UTR_variant BRCA-US 7 91991574 91991574 single base substitution G A missense_variant M491I 1473G>A BRCA-US 7 92017328 92017328 single base substitution G C 3_prime_UTR_variant BRCA-US 7 92017328 92017328 single base substitution G C missense_variant E627Q 1879G>C BRCA-US 7 92027881 92027881 single base substitution C G 3_prime_UTR_variant BRCA-US 7 92027881 92027881 single base substitution C G downstream_gene_variant BRCA-US 7 92027881 92027881 single base substitution C G missense_variant P963R 2888C>G BTCA-JP 7 91871580 91871580 single base substitution A G upstream_gene_variant BTCA-JP 7 91924276 91924276 insertion of <=200bp - A 5_prime_UTR_variant BTCA-JP 7 91957193 91957193 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 91957193 91957193 single base substitution G A missense_variant E256K 766G>A BTCA-JP 7 91980283 91980283 single base substitution C G 3_prime_UTR_variant BTCA-JP 7 91980283 91980283 single base substitution C G missense_variant Q369E 1105C>G BTCA-JP 7 92020444 92020444 single base substitution A G intron_variant BTCA-JP 7 92020444 92020444 single base substitution A G upstream_gene_variant BTCA-JP 7 92028047 92028047 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 92028047 92028047 single base substitution G A downstream_gene_variant BTCA-JP 7 92028047 92028047 single base substitution G A synonymous_variant L1018L 3054G>A CESC-US 7 91936869 91936869 single base substitution G C exon_variant CESC-US 7 91936869 91936869 single base substitution G C missense_variant D129H 385G>C CESC-US 7 91936908 91936908 single base substitution G A downstream_gene_variant CESC-US 7 91936908 91936908 single base substitution G A exon_variant CESC-US 7 91936908 91936908 single base substitution G A missense_variant D142N 424G>A CESC-US 7 92027863 92027863 single base substitution A G 3_prime_UTR_variant CESC-US 7 92027863 92027863 single base substitution A G downstream_gene_variant CESC-US 7 92027863 92027863 single base substitution A G missense_variant D957G 2870A>G CLLE-ES 7 91883429 91883429 single base substitution G C intron_variant CLLE-ES 7 91890071 91890071 single base substitution T C intron_variant CLLE-ES 7 91892102 91892102 single base substitution G A intron_variant CLLE-ES 7 91900055 91900055 single base substitution T G intron_variant CLLE-ES 7 91907492 91907492 single base substitution G C intron_variant CLLE-ES 7 91941146 91941146 single base substitution T G downstream_gene_variant CLLE-ES 7 91941146 91941146 single base substitution T G intron_variant CLLE-ES 7 91984204 91984206 deletion of <=200bp CTT - intron_variant CLLE-ES 7 91995659 91995659 single base substitution G A downstream_gene_variant CLLE-ES 7 91995659 91995659 single base substitution G A intron_variant CLLE-ES 7 91999115 91999115 single base substitution G A intron_variant CLLE-ES 7 91999115 91999115 single base substitution G A upstream_gene_variant CLLE-ES 7 92001659 92001659 single base substitution T C intron_variant CLLE-ES 7 92007104 92007104 single base substitution C A intron_variant COAD-US 7 91871373 91871373 single base substitution C T upstream_gene_variant COAD-US 7 91936914 91936914 deletion of <=200bp A - downstream_gene_variant COAD-US 7 91936914 91936914 deletion of <=200bp A - exon_variant COAD-US 7 91936914 91936914 deletion of <=200bp A - frameshift_variant K144 COAD-US 7 91948655 91948655 single base substitution A C exon_variant COAD-US 7 91948655 91948655 single base substitution A C missense_variant K166N 498A>C COAD-US 7 91948655 91948655 single base substitution A C upstream_gene_variant COAD-US 7 91948770 91948770 single base substitution C T exon_variant COAD-US 7 91948770 91948770 single base substitution C T missense_variant R205W 613C>T COAD-US 7 92015875 92015875 single base substitution C T exon_variant COAD-US 7 92015875 92015875 single base substitution C T missense_variant S557L 1670C>T COAD-US 7 92019350 92019350 single base substitution C T 3_prime_UTR_variant COAD-US 7 92019350 92019350 single base substitution C T missense_variant R658C 1972C>T COAD-US 7 92020506 92020506 single base substitution C T 3_prime_UTR_variant COAD-US 7 92020506 92020506 single base substitution C T synonymous_variant D693D 2079C>T COAD-US 7 92020506 92020506 single base substitution C T upstream_gene_variant COAD-US 7 92027537 92027537 single base substitution C G 3_prime_UTR_variant COAD-US 7 92027537 92027537 single base substitution C G downstream_gene_variant COAD-US 7 92027537 92027537 single base substitution C G synonymous_variant S848S 2544C>G COAD-US 7 92028039 92028039 single base substitution C A 3_prime_UTR_variant COAD-US 7 92028039 92028039 single base substitution C A downstream_gene_variant COAD-US 7 92028039 92028039 single base substitution C A missense_variant L1016M 3046C>A COCA-CN 7 91871476 91871476 single base substitution C A upstream_gene_variant COCA-CN 7 91875310 91875310 single base substitution C T upstream_gene_variant COCA-CN 7 91878202 91878202 single base substitution C T intron_variant COCA-CN 7 91879505 91879505 single base substitution C T intron_variant COCA-CN 7 91890344 91890344 single base substitution A C intron_variant COCA-CN 7 91890992 91890992 single base substitution G A intron_variant COCA-CN 7 91901594 91901594 single base substitution G A intron_variant COCA-CN 7 91917190 91917190 single base substitution A G intron_variant COCA-CN 7 91936672 91936672 single base substitution G T splice_acceptor_variant COCA-CN 7 91936672 91936672 single base substitution G T upstream_gene_variant COCA-CN 7 91943099 91943099 single base substitution G A intron_variant COCA-CN 7 91945806 91945806 single base substitution A G intron_variant COCA-CN 7 91945806 91945806 single base substitution A G upstream_gene_variant COCA-CN 7 91951210 91951210 single base substitution C T downstream_gene_variant COCA-CN 7 91951210 91951210 single base substitution C T intron_variant COCA-CN 7 91957127 91957127 single base substitution C T 3_prime_UTR_variant COCA-CN 7 91957127 91957127 single base substitution C T missense_variant R234C 700C>T COCA-CN 7 91957170 91957170 single base substitution T G 3_prime_UTR_variant COCA-CN 7 91957170 91957170 single base substitution T G missense_variant L248R 743T>G COCA-CN 7 91972218 91972218 single base substitution T G intron_variant COCA-CN 7 91972218 91972218 single base substitution T G upstream_gene_variant COCA-CN 7 91972423 91972423 single base substitution A C 3_prime_UTR_variant COCA-CN 7 91972423 91972423 single base substitution A C synonymous_variant P291P 873A>C COCA-CN 7 91972423 91972423 single base substitution A C upstream_gene_variant COCA-CN 7 91972454 91972454 single base substitution C T downstream_gene_variant COCA-CN 7 91972454 91972454 single base substitution C T exon_variant COCA-CN 7 91972454 91972454 single base substitution C T missense_variant L302F 904C>T COCA-CN 7 91974757 91974757 single base substitution G A downstream_gene_variant COCA-CN 7 91974757 91974757 single base substitution G A intron_variant COCA-CN 7 91980149 91980149 single base substitution T A intron_variant COCA-CN 7 92000822 92000822 single base substitution C T synonymous_variant A506A 1518C>T COCA-CN 7 92000822 92000822 single base substitution C T upstream_gene_variant COCA-CN 7 92000992 92000992 single base substitution G T intron_variant COCA-CN 7 92012226 92012226 single base substitution A C intron_variant COCA-CN 7 92014054 92014054 single base substitution A T intron_variant COCA-CN 7 92015150 92015150 single base substitution A G intron_variant COCA-CN 7 92016126 92016126 single base substitution C A intron_variant COCA-CN 7 92016400 92016400 single base substitution T C intron_variant COCA-CN 7 92019356 92019356 single base substitution C A 3_prime_UTR_variant COCA-CN 7 92019356 92019356 single base substitution C A missense_variant L660I 1978C>A COCA-CN 7 92020654 92020654 single base substitution C T 3_prime_UTR_variant COCA-CN 7 92020654 92020654 single base substitution C T missense_variant R743C 2227C>T COCA-CN 7 92020654 92020654 single base substitution C T upstream_gene_variant COCA-CN 7 92020666 92020666 single base substitution G T splice_region_variant COCA-CN 7 92020666 92020666 single base substitution G T upstream_gene_variant COCA-CN 7 92027187 92027187 single base substitution A G downstream_gene_variant COCA-CN 7 92027187 92027187 single base substitution A G intron_variant COCA-CN 7 92027537 92027537 single base substitution C G 3_prime_UTR_variant COCA-CN 7 92027537 92027537 single base substitution C G downstream_gene_variant COCA-CN 7 92027537 92027537 single base substitution C G synonymous_variant S848S 2544C>G COCA-CN 7 92028213 92028213 single base substitution C A 3_prime_UTR_variant COCA-CN 7 92028213 92028213 single base substitution C A downstream_gene_variant COCA-CN 7 92028213 92028213 single base substitution C A missense_variant Q1074K 3220C>A EOPC-DE 7 91894523 91894523 single base substitution C T intron_variant EOPC-DE 7 91912788 91912788 single base substitution A G intron_variant EOPC-DE 7 91921012 91921012 single base substitution G A intron_variant EOPC-DE 7 91921012 91921012 single base substitution G A upstream_gene_variant ESAD-UK 7 91870584 91870584 single base substitution T A upstream_gene_variant ESAD-UK 7 91871467 91871467 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 91871519 91871519 single base substitution A G upstream_gene_variant ESAD-UK 7 91874237 91874237 single base substitution G A upstream_gene_variant ESAD-UK 7 91874872 91874872 single base substitution C T upstream_gene_variant ESAD-UK 7 91876032 91876032 single base substitution G T intron_variant ESAD-UK 7 91882092 91882092 single base substitution C T intron_variant ESAD-UK 7 91883205 91883205 single base substitution C T intron_variant ESAD-UK 7 91883983 91883983 single base substitution C A intron_variant ESAD-UK 7 91884641 91884641 single base substitution C A intron_variant ESAD-UK 7 91885065 91885065 single base substitution C T intron_variant ESAD-UK 7 91885552 91885552 single base substitution G A intron_variant ESAD-UK 7 91886520 91886520 single base substitution G C intron_variant ESAD-UK 7 91887973 91887973 single base substitution A T intron_variant ESAD-UK 7 91888221 91888221 single base substitution T G intron_variant ESAD-UK 7 91889193 91889193 deletion of <=200bp T - intron_variant ESAD-UK 7 91890905 91890905 deletion of <=200bp T - intron_variant ESAD-UK 7 91892325 91892325 single base substitution G A intron_variant ESAD-UK 7 91892409 91892409 single base substitution C T intron_variant ESAD-UK 7 91895297 91895297 single base substitution A T intron_variant ESAD-UK 7 91896001 91896001 single base substitution A T intron_variant ESAD-UK 7 91896149 91896149 single base substitution A G intron_variant ESAD-UK 7 91896406 91896406 single base substitution A G intron_variant ESAD-UK 7 91899116 91899116 single base substitution T A intron_variant ESAD-UK 7 91899117 91899117 single base substitution A T intron_variant ESAD-UK 7 91899118 91899118 single base substitution A T intron_variant ESAD-UK 7 91900071 91900071 single base substitution A T intron_variant ESAD-UK 7 91901110 91901110 single base substitution G C intron_variant ESAD-UK 7 91901953 91901953 single base substitution G A intron_variant ESAD-UK 7 91903583 91903583 single base substitution A T intron_variant ESAD-UK 7 91904114 91904114 single base substitution T A intron_variant ESAD-UK 7 91904642 91904642 single base substitution G T intron_variant ESAD-UK 7 91905058 91905058 single base substitution G T intron_variant ESAD-UK 7 91905886 91905886 single base substitution C G intron_variant ESAD-UK 7 91907317 91907317 single base substitution G A intron_variant ESAD-UK 7 91908165 91908165 single base substitution C T intron_variant ESAD-UK 7 91908915 91908915 single base substitution C T intron_variant ESAD-UK 7 91909191 91909192 deletion of <=200bp CA - intron_variant ESAD-UK 7 91910345 91910345 single base substitution A G intron_variant ESAD-UK 7 91910698 91910698 single base substitution G A intron_variant ESAD-UK 7 91912490 91912490 single base substitution A T intron_variant ESAD-UK 7 91914013 91914013 insertion of <=200bp - G intron_variant ESAD-UK 7 91914519 91914519 single base substitution G A intron_variant ESAD-UK 7 91917579 91917579 single base substitution A G intron_variant ESAD-UK 7 91920331 91920331 single base substitution G A intron_variant ESAD-UK 7 91920331 91920331 single base substitution G A upstream_gene_variant ESAD-UK 7 91922676 91922676 single base substitution G A intron_variant ESAD-UK 7 91922676 91922676 single base substitution G A upstream_gene_variant ESAD-UK 7 91924262 91924262 single base substitution C A 5_prime_UTR_variant ESAD-UK 7 91925715 91925715 deletion of <=200bp T - intron_variant ESAD-UK 7 91926874 91926874 single base substitution A C intron_variant ESAD-UK 7 91929781 91929781 single base substitution T C intron_variant ESAD-UK 7 91933090 91933090 single base substitution A G intron_variant ESAD-UK 7 91933090 91933090 single base substitution A G upstream_gene_variant ESAD-UK 7 91933396 91933396 single base substitution A C intron_variant ESAD-UK 7 91933396 91933396 single base substitution A C upstream_gene_variant ESAD-UK 7 91934516 91934516 single base substitution T G intron_variant ESAD-UK 7 91934516 91934516 single base substitution T G upstream_gene_variant ESAD-UK 7 91934836 91934836 insertion of <=200bp - A intron_variant ESAD-UK 7 91934836 91934836 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 91935971 91935971 single base substitution C A intron_variant ESAD-UK 7 91935971 91935971 single base substitution C A upstream_gene_variant ESAD-UK 7 91936914 91936914 deletion of <=200bp A - downstream_gene_variant ESAD-UK 7 91936914 91936914 deletion of <=200bp A - exon_variant ESAD-UK 7 91936914 91936914 deletion of <=200bp A - frameshift_variant K144 ESAD-UK 7 91938245 91938245 single base substitution A T downstream_gene_variant ESAD-UK 7 91938245 91938245 single base substitution A T intron_variant ESAD-UK 7 91938371 91938371 single base substitution T C downstream_gene_variant ESAD-UK 7 91938371 91938371 single base substitution T C intron_variant ESAD-UK 7 91942152 91942152 single base substitution A G intron_variant ESAD-UK 7 91943505 91943505 single base substitution A C intron_variant ESAD-UK 7 91947268 91947268 single base substitution G T intron_variant ESAD-UK 7 91947268 91947268 single base substitution G T upstream_gene_variant ESAD-UK 7 91947619 91947619 single base substitution C T intron_variant ESAD-UK 7 91947619 91947619 single base substitution C T upstream_gene_variant ESAD-UK 7 91948390 91948390 single base substitution T C intron_variant ESAD-UK 7 91948390 91948390 single base substitution T C upstream_gene_variant ESAD-UK 7 91948672 91948672 single base substitution T A exon_variant ESAD-UK 7 91948672 91948672 single base substitution T A missense_variant F172Y 515T>A ESAD-UK 7 91948672 91948672 single base substitution T A upstream_gene_variant ESAD-UK 7 91949816 91949816 single base substitution C G downstream_gene_variant ESAD-UK 7 91949816 91949816 single base substitution C G intron_variant ESAD-UK 7 91952919 91952919 single base substitution G A downstream_gene_variant ESAD-UK 7 91952919 91952919 single base substitution G A intron_variant ESAD-UK 7 91952939 91952939 single base substitution T C downstream_gene_variant ESAD-UK 7 91952939 91952939 single base substitution T C intron_variant ESAD-UK 7 91952953 91952953 single base substitution A G downstream_gene_variant ESAD-UK 7 91952953 91952953 single base substitution A G intron_variant ESAD-UK 7 91953533 91953533 single base substitution A G downstream_gene_variant ESAD-UK 7 91953533 91953533 single base substitution A G intron_variant ESAD-UK 7 91953776 91953776 single base substitution G C downstream_gene_variant ESAD-UK 7 91953776 91953776 single base substitution G C intron_variant ESAD-UK 7 91954364 91954364 single base substitution G C intron_variant ESAD-UK 7 91955420 91955420 single base substitution T A intron_variant ESAD-UK 7 91955870 91955870 single base substitution C T intron_variant ESAD-UK 7 91956022 91956022 single base substitution G T intron_variant ESAD-UK 7 91958295 91958295 single base substitution T C intron_variant ESAD-UK 7 91958563 91958563 single base substitution A G intron_variant ESAD-UK 7 91958696 91958696 single base substitution T A intron_variant ESAD-UK 7 91960442 91960442 single base substitution C T intron_variant ESAD-UK 7 91960727 91960727 single base substitution G A intron_variant ESAD-UK 7 91963312 91963312 single base substitution A C intron_variant ESAD-UK 7 91964846 91964846 single base substitution A G intron_variant ESAD-UK 7 91966608 91966608 single base substitution T C intron_variant ESAD-UK 7 91968887 91968887 single base substitution C T intron_variant ESAD-UK 7 91968887 91968887 single base substitution C T upstream_gene_variant ESAD-UK 7 91969338 91969338 insertion of <=200bp - T intron_variant ESAD-UK 7 91969338 91969338 insertion of <=200bp - T upstream_gene_variant ESAD-UK 7 91970172 91970172 single base substitution A C intron_variant ESAD-UK 7 91970172 91970172 single base substitution A C upstream_gene_variant ESAD-UK 7 91970387 91970387 single base substitution G C intron_variant ESAD-UK 7 91970387 91970387 single base substitution G C upstream_gene_variant ESAD-UK 7 91970533 91970533 single base substitution A G intron_variant ESAD-UK 7 91970533 91970533 single base substitution A G upstream_gene_variant ESAD-UK 7 91970646 91970646 single base substitution G A intron_variant ESAD-UK 7 91970646 91970646 single base substitution G A upstream_gene_variant ESAD-UK 7 91971102 91971102 single base substitution T G intron_variant ESAD-UK 7 91971102 91971102 single base substitution T G upstream_gene_variant ESAD-UK 7 91974905 91974905 single base substitution G A downstream_gene_variant ESAD-UK 7 91974905 91974905 single base substitution G A intron_variant ESAD-UK 7 91975231 91975231 single base substitution A C downstream_gene_variant ESAD-UK 7 91975231 91975231 single base substitution A C intron_variant ESAD-UK 7 91976084 91976084 single base substitution G A downstream_gene_variant ESAD-UK 7 91976084 91976084 single base substitution G A intron_variant ESAD-UK 7 91984030 91984030 single base substitution T G intron_variant ESAD-UK 7 91985416 91985416 single base substitution G C intron_variant ESAD-UK 7 91986709 91986709 single base substitution C G intron_variant ESAD-UK 7 91987644 91987644 single base substitution A G intron_variant ESAD-UK 7 91990955 91990955 single base substitution C G intron_variant ESAD-UK 7 91991467 91991467 single base substitution A T intron_variant ESAD-UK 7 91991510 91991510 single base substitution G C 3_prime_UTR_variant ESAD-UK 7 91991510 91991510 single base substitution G C missense_variant G470A 1409G>C ESAD-UK 7 91993022 91993022 single base substitution C T downstream_gene_variant ESAD-UK 7 91993022 91993022 single base substitution C T intron_variant ESAD-UK 7 91993714 91993714 single base substitution A T downstream_gene_variant ESAD-UK 7 91993714 91993714 single base substitution A T intron_variant ESAD-UK 7 91994159 91994159 single base substitution G A downstream_gene_variant ESAD-UK 7 91994159 91994159 single base substitution G A intron_variant ESAD-UK 7 91995617 91995617 single base substitution G A downstream_gene_variant ESAD-UK 7 91995617 91995617 single base substitution G A intron_variant ESAD-UK 7 91995861 91995861 insertion of <=200bp - TATA downstream_gene_variant ESAD-UK 7 91995861 91995861 insertion of <=200bp - TATA intron_variant ESAD-UK 7 91997274 91997274 single base substitution A T intron_variant ESAD-UK 7 91997274 91997274 single base substitution A T upstream_gene_variant ESAD-UK 7 91997786 91997786 single base substitution T A intron_variant ESAD-UK 7 91997786 91997786 single base substitution T A upstream_gene_variant ESAD-UK 7 91998321 91998321 single base substitution G A intron_variant ESAD-UK 7 91998321 91998321 single base substitution G A upstream_gene_variant ESAD-UK 7 91998366 91998366 single base substitution G A intron_variant ESAD-UK 7 91998366 91998366 single base substitution G A upstream_gene_variant ESAD-UK 7 91998543 91998543 single base substitution C A intron_variant ESAD-UK 7 91998543 91998543 single base substitution C A upstream_gene_variant ESAD-UK 7 92000464 92000464 single base substitution T G intron_variant ESAD-UK 7 92000464 92000464 single base substitution T G upstream_gene_variant ESAD-UK 7 92000501 92000501 single base substitution T A intron_variant ESAD-UK 7 92000501 92000501 single base substitution T A upstream_gene_variant ESAD-UK 7 92005679 92005679 single base substitution A G intron_variant ESAD-UK 7 92007089 92007089 single base substitution G T intron_variant ESAD-UK 7 92007097 92007097 single base substitution A C intron_variant ESAD-UK 7 92007589 92007589 single base substitution C G intron_variant ESAD-UK 7 92007692 92007692 single base substitution A T intron_variant ESAD-UK 7 92009513 92009513 single base substitution C T intron_variant ESAD-UK 7 92012618 92012618 single base substitution C T intron_variant ESAD-UK 7 92012673 92012673 single base substitution G A intron_variant ESAD-UK 7 92013035 92013035 single base substitution G C intron_variant ESAD-UK 7 92013940 92013940 single base substitution G C intron_variant ESAD-UK 7 92015229 92015229 single base substitution G A intron_variant ESAD-UK 7 92015908 92015908 single base substitution A G exon_variant ESAD-UK 7 92015908 92015908 single base substitution A G missense_variant Y568C 1703A>G ESAD-UK 7 92016458 92016458 single base substitution G T intron_variant ESAD-UK 7 92016459 92016459 single base substitution A T intron_variant ESAD-UK 7 92017915 92017915 single base substitution G A intron_variant ESAD-UK 7 92018362 92018362 single base substitution G A intron_variant ESAD-UK 7 92018532 92018532 single base substitution C T intron_variant ESAD-UK 7 92024014 92024014 single base substitution G A intron_variant ESAD-UK 7 92024014 92024014 single base substitution G A upstream_gene_variant ESAD-UK 7 92025286 92025286 single base substitution G A exon_variant ESAD-UK 7 92025286 92025286 single base substitution G A intron_variant ESAD-UK 7 92028864 92028864 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 92028864 92028864 single base substitution A G downstream_gene_variant ESAD-UK 7 92029807 92029807 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 92029807 92029807 single base substitution C T downstream_gene_variant ESAD-UK 7 92033099 92033099 single base substitution G T downstream_gene_variant ESAD-UK 7 92033361 92033361 single base substitution T G downstream_gene_variant ESCA-CN 7 91936908 91936908 single base substitution G C downstream_gene_variant ESCA-CN 7 91936908 91936908 single base substitution G C exon_variant ESCA-CN 7 91936908 91936908 single base substitution G C missense_variant D142H 424G>C ESCA-CN 7 92000724 92000724 single base substitution T G intron_variant ESCA-CN 7 92000724 92000724 single base substitution T G upstream_gene_variant GBM-US 7 91991520 91991520 single base substitution T A 3_prime_UTR_variant GBM-US 7 91991520 91991520 single base substitution T A missense_variant H473Q 1419T>A KIRC-US 7 91924303 91924303 single base substitution C A missense_variant T4K 11C>A KIRC-US 7 91974300 91974310 deletion of <=200bp TTGTATGTGCA - downstream_gene_variant KIRC-US 7 91974300 91974310 deletion of <=200bp TTGTATGTGCA - exon_variant KIRC-US 7 91974300 91974310 deletion of <=200bp TTGTATGTGCA - frameshift_variant ICMCS335 KIRC-US 7 92027037 92027038 deletion of <=200bp AT - frameshift_variant D799 KIRC-US 7 92027037 92027038 deletion of <=200bp AT - splice_region_variant KIRC-US 7 92027912 92027912 single base substitution C A 3_prime_UTR_variant KIRC-US 7 92027912 92027912 single base substitution C A downstream_gene_variant KIRC-US 7 92027912 92027912 single base substitution C A synonymous_variant I973I 2919C>A KIRP-US 7 92019370 92019370 single base substitution T C 3_prime_UTR_variant KIRP-US 7 92019370 92019370 single base substitution T C synonymous_variant Y664Y 1992T>C LAML-KR 7 91893511 91893511 single base substitution C T intron_variant LAML-KR 7 91920903 91920903 single base substitution G T intron_variant LAML-KR 7 91920903 91920903 single base substitution G T upstream_gene_variant LAML-KR 7 91937089 91937089 single base substitution G T downstream_gene_variant LAML-KR 7 91937089 91937089 single base substitution G T intron_variant LAML-KR 7 91948738 91948738 single base substitution C T exon_variant LAML-KR 7 91948738 91948738 single base substitution C T missense_variant A194V 581C>T LAML-KR 7 92005963 92005963 single base substitution A G intron_variant LAML-KR 7 92019330 92019330 single base substitution A G 3_prime_UTR_variant LAML-KR 7 92019330 92019330 single base substitution A G missense_variant H651R 1952A>G LGG-US 7 91981897 91981897 single base substitution C T 3_prime_UTR_variant LGG-US 7 91981897 91981897 single base substitution C T synonymous_variant L446L 1338C>T LICA-CN 7 91936891 91936891 single base substitution C T downstream_gene_variant LICA-CN 7 91936891 91936891 single base substitution C T exon_variant LICA-CN 7 91936891 91936891 single base substitution C T missense_variant A136V 407C>T LICA-FR 7 91892877 91892877 single base substitution C T intron_variant LICA-FR 7 91897651 91897651 single base substitution A G intron_variant LICA-FR 7 91912738 91912738 single base substitution G T intron_variant LICA-FR 7 91929280 91929280 single base substitution G A intron_variant LICA-FR 7 91932925 91932925 single base substitution T C intron_variant LICA-FR 7 91932925 91932925 single base substitution T C upstream_gene_variant LICA-FR 7 91964970 91964970 single base substitution A T intron_variant LICA-FR 7 91973493 91973493 single base substitution G T downstream_gene_variant LICA-FR 7 91973493 91973493 single base substitution G T intron_variant LICA-FR 7 91983248 91983248 single base substitution A G intron_variant LICA-FR 7 92004723 92004723 single base substitution A G intron_variant LICA-FR 7 92007795 92007795 deletion of <=200bp A - intron_variant LICA-FR 7 92016014 92016025 deletion of <=200bp TTATTTTGTATT - intron_variant LICA-FR 7 92019082 92019082 single base substitution A G intron_variant LICA-FR 7 92019319 92019319 single base substitution A C 3_prime_UTR_variant LICA-FR 7 92019319 92019319 single base substitution A C missense_variant E647D 1941A>C LICA-FR 7 92025790 92025790 single base substitution G T missense_variant D799Y 2395G>T LICA-FR 7 92025790 92025790 single base substitution G T splice_region_variant LIHC-US 7 91936908 91936908 single base substitution G C downstream_gene_variant LIHC-US 7 91936908 91936908 single base substitution G C exon_variant LIHC-US 7 91936908 91936908 single base substitution G C missense_variant D142H 424G>C LIHC-US 7 92027849 92027849 single base substitution A G 3_prime_UTR_variant LIHC-US 7 92027849 92027849 single base substitution A G downstream_gene_variant LIHC-US 7 92027849 92027849 single base substitution A G synonymous_variant S952S 2856A>G LIHC-US 7 92028083 92028083 single base substitution T C 3_prime_UTR_variant LIHC-US 7 92028083 92028083 single base substitution T C downstream_gene_variant LIHC-US 7 92028083 92028083 single base substitution T C synonymous_variant S1030S 3090T>C LINC-JP 7 91877912 91877912 single base substitution C A intron_variant LINC-JP 7 91880025 91880025 single base substitution C A intron_variant LINC-JP 7 91883600 91883600 single base substitution A G intron_variant LINC-JP 7 91897493 91897493 single base substitution T C intron_variant LINC-JP 7 91920994 91920994 single base substitution A T intron_variant LINC-JP 7 91920994 91920994 single base substitution A T upstream_gene_variant LINC-JP 7 91928865 91928865 single base substitution A G intron_variant LINC-JP 7 91937583 91937583 single base substitution T A downstream_gene_variant LINC-JP 7 91937583 91937583 single base substitution T A intron_variant LINC-JP 7 91940679 91940679 single base substitution A G downstream_gene_variant LINC-JP 7 91940679 91940679 single base substitution A G intron_variant LINC-JP 7 91941039 91941040 deletion of <=200bp CA - downstream_gene_variant LINC-JP 7 91941039 91941040 deletion of <=200bp CA - intron_variant LINC-JP 7 91955554 91955554 single base substitution T C intron_variant LINC-JP 7 91957022 91957022 single base substitution A T intron_variant LINC-JP 7 91961668 91961668 single base substitution A G intron_variant LINC-JP 7 91969242 91969242 deletion of <=200bp T - intron_variant LINC-JP 7 91969242 91969242 deletion of <=200bp T - upstream_gene_variant LINC-JP 7 91972466 91972466 single base substitution A G downstream_gene_variant LINC-JP 7 91972466 91972466 single base substitution A G exon_variant LINC-JP 7 91972466 91972466 single base substitution A G missense_variant R306G 916A>G LINC-JP 7 91974341 91974341 insertion of <=200bp - T downstream_gene_variant LINC-JP 7 91974341 91974341 insertion of <=200bp - T exon_variant LINC-JP 7 91974341 91974341 insertion of <=200bp - T frameshift_variant M349I? LINC-JP 7 91983510 91983510 single base substitution T A intron_variant LINC-JP 7 92014220 92014220 single base substitution A G intron_variant LINC-JP 7 92015338 92015338 single base substitution A T intron_variant LINC-JP 7 92019332 92019332 single base substitution G A 3_prime_UTR_variant LINC-JP 7 92019332 92019332 single base substitution G A missense_variant V652M 1954G>A LINC-JP 7 92021759 92021759 single base substitution G A intron_variant LINC-JP 7 92021759 92021759 single base substitution G A upstream_gene_variant LINC-JP 7 92028215 92028215 single base substitution A G 3_prime_UTR_variant LINC-JP 7 92028215 92028215 single base substitution A G downstream_gene_variant LINC-JP 7 92028215 92028215 single base substitution A G synonymous_variant Q1074Q 3222A>G LINC-JP 7 92029568 92029568 single base substitution T C 3_prime_UTR_variant LINC-JP 7 92029568 92029568 single base substitution T C downstream_gene_variant LINC-JP 7 92032012 92032012 single base substitution A G downstream_gene_variant LIRI-JP 7 91870865 91870865 single base substitution T C upstream_gene_variant LIRI-JP 7 91871048 91871048 single base substitution A C upstream_gene_variant LIRI-JP 7 91871447 91871447 single base substitution C G upstream_gene_variant LIRI-JP 7 91871592 91871592 single base substitution T C upstream_gene_variant LIRI-JP 7 91877812 91877812 single base substitution A C intron_variant LIRI-JP 7 91877930 91877930 single base substitution A G intron_variant LIRI-JP 7 91880988 91880988 single base substitution T A intron_variant LIRI-JP 7 91881413 91881413 single base substitution G A intron_variant LIRI-JP 7 91881680 91881680 single base substitution T C intron_variant LIRI-JP 7 91881836 91881836 single base substitution G C intron_variant LIRI-JP 7 91884554 91884554 single base substitution T G intron_variant LIRI-JP 7 91884837 91884837 single base substitution T C intron_variant LIRI-JP 7 91885154 91885154 single base substitution A G intron_variant LIRI-JP 7 91885440 91885440 single base substitution G T intron_variant LIRI-JP 7 91887641 91887641 single base substitution A G intron_variant LIRI-JP 7 91888293 91888293 single base substitution A T intron_variant LIRI-JP 7 91888579 91888579 single base substitution T G intron_variant LIRI-JP 7 91890321 91890321 single base substitution T C intron_variant LIRI-JP 7 91890965 91890965 single base substitution A G intron_variant LIRI-JP 7 91891457 91891457 single base substitution G A intron_variant LIRI-JP 7 91891924 91891924 single base substitution G A intron_variant LIRI-JP 7 91891997 91891997 single base substitution T C intron_variant LIRI-JP 7 91892210 91892210 single base substitution A G intron_variant LIRI-JP 7 91892393 91892393 single base substitution A T intron_variant LIRI-JP 7 91897109 91897109 single base substitution A G intron_variant LIRI-JP 7 91898516 91898516 single base substitution G T intron_variant LIRI-JP 7 91906527 91906527 single base substitution T C intron_variant LIRI-JP 7 91906972 91906972 single base substitution G T intron_variant LIRI-JP 7 91907860 91907860 single base substitution T G intron_variant LIRI-JP 7 91908331 91908331 single base substitution A G intron_variant LIRI-JP 7 91909157 91909157 single base substitution C A intron_variant LIRI-JP 7 91913009 91913009 single base substitution G A intron_variant LIRI-JP 7 91914967 91914967 single base substitution A G intron_variant LIRI-JP 7 91915327 91915327 single base substitution A G intron_variant LIRI-JP 7 91915358 91915358 single base substitution T C intron_variant LIRI-JP 7 91915765 91915765 single base substitution G C intron_variant LIRI-JP 7 91916275 91916275 single base substitution G A intron_variant LIRI-JP 7 91920071 91920071 single base substitution A G intron_variant LIRI-JP 7 91920071 91920071 single base substitution A G upstream_gene_variant LIRI-JP 7 91929089 91929089 single base substitution C A intron_variant LIRI-JP 7 91930490 91930490 single base substitution A T intron_variant LIRI-JP 7 91930660 91930660 single base substitution C T intron_variant LIRI-JP 7 91930757 91930757 single base substitution A G intron_variant LIRI-JP 7 91931160 91931160 single base substitution G A intron_variant LIRI-JP 7 91931199 91931199 single base substitution G A intron_variant LIRI-JP 7 91932291 91932291 single base substitution A G intron_variant LIRI-JP 7 91932291 91932291 single base substitution A G upstream_gene_variant LIRI-JP 7 91932360 91932360 single base substitution C G intron_variant LIRI-JP 7 91932360 91932360 single base substitution C G upstream_gene_variant LIRI-JP 7 91932969 91932969 single base substitution A G intron_variant LIRI-JP 7 91932969 91932969 single base substitution A G upstream_gene_variant LIRI-JP 7 91934326 91934326 single base substitution G C intron_variant LIRI-JP 7 91934326 91934326 single base substitution G C upstream_gene_variant LIRI-JP 7 91934756 91934756 single base substitution G T intron_variant LIRI-JP 7 91934756 91934756 single base substitution G T upstream_gene_variant LIRI-JP 7 91935638 91935638 single base substitution A G intron_variant LIRI-JP 7 91935638 91935638 single base substitution A G upstream_gene_variant LIRI-JP 7 91936386 91936386 single base substitution A G intron_variant LIRI-JP 7 91936386 91936386 single base substitution A G upstream_gene_variant LIRI-JP 7 91937598 91937598 single base substitution A T downstream_gene_variant LIRI-JP 7 91937598 91937598 single base substitution A T intron_variant LIRI-JP 7 91937940 91937940 single base substitution A G downstream_gene_variant LIRI-JP 7 91937940 91937940 single base substitution A G intron_variant LIRI-JP 7 91940395 91940423 deletion of <=200bp ATTGCTTTTAGTCTTTGGCTGTAAGAATA - downstream_gene_variant LIRI-JP 7 91940395 91940423 deletion of <=200bp ATTGCTTTTAGTCTTTGGCTGTAAGAATA - intron_variant LIRI-JP 7 91941839 91941839 single base substitution T C downstream_gene_variant LIRI-JP 7 91941839 91941839 single base substitution T C intron_variant LIRI-JP 7 91942482 91942482 single base substitution G A intron_variant LIRI-JP 7 91943105 91943105 single base substitution G T intron_variant LIRI-JP 7 91945256 91945256 single base substitution G A intron_variant LIRI-JP 7 91945256 91945256 single base substitution G A upstream_gene_variant LIRI-JP 7 91945601 91945601 single base substitution A G intron_variant LIRI-JP 7 91945601 91945601 single base substitution A G upstream_gene_variant LIRI-JP 7 91948199 91948199 single base substitution A G intron_variant LIRI-JP 7 91948199 91948199 single base substitution A G upstream_gene_variant LIRI-JP 7 91949408 91949408 single base substitution A T downstream_gene_variant LIRI-JP 7 91949408 91949408 single base substitution A T intron_variant LIRI-JP 7 91949829 91949829 single base substitution A G downstream_gene_variant LIRI-JP 7 91949829 91949829 single base substitution A G intron_variant LIRI-JP 7 91949928 91949928 single base substitution A T downstream_gene_variant LIRI-JP 7 91949928 91949928 single base substitution A T intron_variant LIRI-JP 7 91950808 91950808 single base substitution C A downstream_gene_variant LIRI-JP 7 91950808 91950808 single base substitution C A intron_variant LIRI-JP 7 91950989 91950989 single base substitution G A downstream_gene_variant LIRI-JP 7 91950989 91950989 single base substitution G A intron_variant LIRI-JP 7 91951300 91951300 single base substitution A C downstream_gene_variant LIRI-JP 7 91951300 91951300 single base substitution A C intron_variant LIRI-JP 7 91951300 91951300 single base substitution A G downstream_gene_variant LIRI-JP 7 91951300 91951300 single base substitution A G intron_variant LIRI-JP 7 91951500 91951500 single base substitution A T downstream_gene_variant LIRI-JP 7 91951500 91951500 single base substitution A T intron_variant LIRI-JP 7 91960331 91960331 single base substitution T C intron_variant LIRI-JP 7 91963123 91963123 single base substitution C G intron_variant LIRI-JP 7 91963975 91963975 single base substitution A G intron_variant LIRI-JP 7 91965395 91965395 single base substitution A G intron_variant LIRI-JP 7 91966517 91966517 single base substitution G A intron_variant LIRI-JP 7 91966791 91966791 single base substitution T G intron_variant LIRI-JP 7 91967138 91967138 single base substitution A G intron_variant LIRI-JP 7 91969480 91969480 single base substitution C T intron_variant LIRI-JP 7 91969480 91969480 single base substitution C T upstream_gene_variant LIRI-JP 7 91970425 91970425 single base substitution C T intron_variant LIRI-JP 7 91970425 91970425 single base substitution C T upstream_gene_variant LIRI-JP 7 91971309 91971309 single base substitution G T intron_variant LIRI-JP 7 91971309 91971309 single base substitution G T upstream_gene_variant LIRI-JP 7 91971461 91971461 single base substitution A T intron_variant LIRI-JP 7 91971461 91971461 single base substitution A T upstream_gene_variant LIRI-JP 7 91974777 91974777 single base substitution G C downstream_gene_variant LIRI-JP 7 91974777 91974777 single base substitution G C intron_variant LIRI-JP 7 91976355 91976355 single base substitution G T downstream_gene_variant LIRI-JP 7 91976355 91976355 single base substitution G T intron_variant LIRI-JP 7 91976859 91976859 single base substitution C T downstream_gene_variant LIRI-JP 7 91976859 91976859 single base substitution C T intron_variant LIRI-JP 7 91980635 91980635 single base substitution T C intron_variant LIRI-JP 7 91982949 91982949 single base substitution T C intron_variant LIRI-JP 7 91982954 91982954 single base substitution T A intron_variant LIRI-JP 7 91983440 91983440 single base substitution T G intron_variant LIRI-JP 7 91985224 91985224 single base substitution G A intron_variant LIRI-JP 7 91985416 91985416 single base substitution G T intron_variant LIRI-JP 7 91985591 91985592 deletion of <=200bp TG - intron_variant LIRI-JP 7 91986426 91986426 single base substitution A G intron_variant LIRI-JP 7 91986833 91986833 single base substitution G A intron_variant LIRI-JP 7 91989960 91989960 single base substitution G T intron_variant LIRI-JP 7 91991885 91991885 single base substitution G T downstream_gene_variant LIRI-JP 7 91991885 91991885 single base substitution G T intron_variant LIRI-JP 7 91994460 91994460 single base substitution T C downstream_gene_variant LIRI-JP 7 91994460 91994460 single base substitution T C intron_variant LIRI-JP 7 91994560 91994560 single base substitution T A downstream_gene_variant LIRI-JP 7 91994560 91994560 single base substitution T A intron_variant LIRI-JP 7 92000374 92000374 single base substitution A G intron_variant LIRI-JP 7 92000374 92000374 single base substitution A G upstream_gene_variant LIRI-JP 7 92005192 92005192 single base substitution G A intron_variant LIRI-JP 7 92008365 92008365 deletion of <=200bp A - intron_variant LIRI-JP 7 92009485 92009485 single base substitution C A intron_variant LIRI-JP 7 92010374 92010374 single base substitution A G intron_variant LIRI-JP 7 92011921 92011921 single base substitution A T intron_variant LIRI-JP 7 92013899 92013899 single base substitution A T intron_variant LIRI-JP 7 92015377 92015377 single base substitution G A intron_variant LIRI-JP 7 92015474 92015474 single base substitution A T intron_variant LIRI-JP 7 92015871 92015871 single base substitution A G exon_variant LIRI-JP 7 92015871 92015871 single base substitution A G missense_variant S556G 1666A>G LIRI-JP 7 92016156 92016156 single base substitution G T intron_variant LIRI-JP 7 92016276 92016276 single base substitution T A intron_variant LIRI-JP 7 92018224 92018224 single base substitution A G intron_variant LIRI-JP 7 92022835 92022835 single base substitution T C intron_variant LIRI-JP 7 92022835 92022835 single base substitution T C upstream_gene_variant LIRI-JP 7 92023062 92023062 single base substitution G C intron_variant LIRI-JP 7 92023062 92023062 single base substitution G C upstream_gene_variant LIRI-JP 7 92023694 92023714 deletion of <=200bp GAAATTTTCAAATAAATTTTA - intron_variant LIRI-JP 7 92023694 92023714 deletion of <=200bp GAAATTTTCAAATAAATTTTA - upstream_gene_variant LIRI-JP 7 92024123 92024123 single base substitution A T intron_variant LIRI-JP 7 92024123 92024123 single base substitution A T upstream_gene_variant LIRI-JP 7 92024631 92024631 single base substitution A G intron_variant LIRI-JP 7 92024631 92024631 single base substitution A G upstream_gene_variant LIRI-JP 7 92025897 92025897 single base substitution A G intron_variant LIRI-JP 7 92026499 92026499 single base substitution A C intron_variant LIRI-JP 7 92027037 92027037 single base substitution A G missense_variant D799G 2396A>G LIRI-JP 7 92027037 92027037 single base substitution A G splice_region_variant LIRI-JP 7 92029486 92029486 single base substitution A T 3_prime_UTR_variant LIRI-JP 7 92029486 92029486 single base substitution A T downstream_gene_variant LIRI-JP 7 92032905 92032905 single base substitution C T downstream_gene_variant LIRI-JP 7 92033373 92033373 single base substitution G A downstream_gene_variant LIRI-JP 7 92034848 92034848 single base substitution A G downstream_gene_variant LUSC-KR 7 91873930 91873930 single base substitution A G upstream_gene_variant LUSC-KR 7 91875266 91875266 single base substitution G T upstream_gene_variant LUSC-KR 7 91878193 91878193 single base substitution C T intron_variant LUSC-KR 7 91880227 91880227 single base substitution C A intron_variant LUSC-KR 7 91880337 91880337 single base substitution G A intron_variant LUSC-KR 7 91885335 91885335 single base substitution T A intron_variant LUSC-KR 7 91894004 91894004 single base substitution G T intron_variant LUSC-KR 7 91897655 91897655 single base substitution G C intron_variant LUSC-KR 7 91900308 91900308 single base substitution G C intron_variant LUSC-KR 7 91912025 91912025 single base substitution A G intron_variant LUSC-KR 7 91922608 91922608 single base substitution A G intron_variant LUSC-KR 7 91922608 91922608 single base substitution A G upstream_gene_variant LUSC-KR 7 91925417 91925417 single base substitution G T intron_variant LUSC-KR 7 91932622 91932622 single base substitution G T intron_variant LUSC-KR 7 91932622 91932622 single base substitution G T upstream_gene_variant LUSC-KR 7 91933840 91933840 single base substitution G A intron_variant LUSC-KR 7 91933840 91933840 single base substitution G A upstream_gene_variant LUSC-KR 7 91933871 91933871 single base substitution G T intron_variant LUSC-KR 7 91933871 91933871 single base substitution G T upstream_gene_variant LUSC-KR 7 91934778 91934778 single base substitution G A intron_variant LUSC-KR 7 91934778 91934778 single base substitution G A upstream_gene_variant LUSC-KR 7 91945199 91945199 single base substitution G T intron_variant LUSC-KR 7 91945199 91945199 single base substitution G T upstream_gene_variant LUSC-KR 7 91949237 91949237 single base substitution G A exon_variant LUSC-KR 7 91949237 91949237 single base substitution G A intron_variant LUSC-KR 7 91953315 91953315 single base substitution G A downstream_gene_variant LUSC-KR 7 91953315 91953315 single base substitution G A intron_variant LUSC-KR 7 91960519 91960519 single base substitution G C intron_variant LUSC-KR 7 91962143 91962143 single base substitution G C intron_variant LUSC-KR 7 91967597 91967597 single base substitution G T intron_variant LUSC-KR 7 91967597 91967597 single base substitution G T upstream_gene_variant LUSC-KR 7 91970836 91970836 single base substitution G T intron_variant LUSC-KR 7 91970836 91970836 single base substitution G T upstream_gene_variant LUSC-KR 7 91972868 91972868 single base substitution A T downstream_gene_variant LUSC-KR 7 91972868 91972868 single base substitution A T intron_variant LUSC-KR 7 91973757 91973757 single base substitution G A downstream_gene_variant LUSC-KR 7 91973757 91973757 single base substitution G A intron_variant LUSC-KR 7 91980125 91980125 single base substitution C T intron_variant LUSC-KR 7 91993027 91993027 single base substitution A G downstream_gene_variant LUSC-KR 7 91993027 91993027 single base substitution A G intron_variant LUSC-KR 7 91994336 91994336 single base substitution G A downstream_gene_variant LUSC-KR 7 91994336 91994336 single base substitution G A intron_variant LUSC-KR 7 91995893 91995893 single base substitution G A downstream_gene_variant LUSC-KR 7 91995893 91995893 single base substitution G A intron_variant LUSC-KR 7 91995893 91995893 single base substitution G A upstream_gene_variant LUSC-KR 7 92000000 92000000 single base substitution A T intron_variant LUSC-KR 7 92000000 92000000 single base substitution A T upstream_gene_variant LUSC-KR 7 92000194 92000194 single base substitution G T intron_variant LUSC-KR 7 92000194 92000194 single base substitution G T upstream_gene_variant LUSC-KR 7 92002459 92002459 single base substitution G C intron_variant LUSC-KR 7 92002700 92002700 single base substitution G C intron_variant LUSC-KR 7 92003736 92003736 single base substitution G C intron_variant LUSC-KR 7 92004844 92004844 single base substitution C T intron_variant LUSC-KR 7 92005826 92005826 single base substitution G A intron_variant LUSC-KR 7 92007746 92007746 single base substitution C T intron_variant LUSC-KR 7 92013594 92013594 single base substitution G C intron_variant LUSC-KR 7 92015635 92015635 single base substitution C T intron_variant LUSC-KR 7 92026889 92026889 single base substitution A T intron_variant LUSC-KR 7 92030362 92030362 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 92030362 92030362 single base substitution G T downstream_gene_variant LUSC-KR 7 92033284 92033284 single base substitution A T downstream_gene_variant LUSC-US 7 91936822 91936822 single base substitution G C exon_variant LUSC-US 7 91936822 91936822 single base substitution G C missense_variant R113T 338G>C LUSC-US 7 91974291 91974291 single base substitution G A downstream_gene_variant LUSC-US 7 91974291 91974291 single base substitution G A splice_acceptor_variant LUSC-US 7 91980322 91980322 single base substitution G C 3_prime_UTR_variant LUSC-US 7 91980322 91980322 single base substitution G C missense_variant D382H 1144G>C LUSC-US 7 92000830 92000830 single base substitution G T missense_variant C509F 1526G>T LUSC-US 7 92000830 92000830 single base substitution G T upstream_gene_variant LUSC-US 7 92019373 92019373 single base substitution A T 3_prime_UTR_variant LUSC-US 7 92019373 92019373 single base substitution A T synonymous_variant P665P 1995A>T LUSC-US 7 92027064 92027064 single base substitution G T 3_prime_UTR_variant LUSC-US 7 92027064 92027064 single base substitution G T exon_variant LUSC-US 7 92027064 92027064 single base substitution G T missense_variant R808L 2423G>T LUSC-US 7 92027143 92027143 single base substitution C T 3_prime_UTR_variant LUSC-US 7 92027143 92027143 single base substitution C T exon_variant LUSC-US 7 92027143 92027143 single base substitution C T synonymous_variant A834A 2502C>T LUSC-US 7 92027579 92027579 single base substitution A G 3_prime_UTR_variant LUSC-US 7 92027579 92027579 single base substitution A G downstream_gene_variant LUSC-US 7 92027579 92027579 single base substitution A G synonymous_variant L862L 2586A>G LUSC-US 7 92027804 92027804 single base substitution G A 3_prime_UTR_variant LUSC-US 7 92027804 92027804 single base substitution G A downstream_gene_variant LUSC-US 7 92027804 92027804 single base substitution G A synonymous_variant L937L 2811G>A LUSC-US 7 92028042 92028042 single base substitution G C 3_prime_UTR_variant LUSC-US 7 92028042 92028042 single base substitution G C downstream_gene_variant LUSC-US 7 92028042 92028042 single base substitution G C missense_variant V1017L 3049G>C MALY-DE 7 91872396 91872396 single base substitution A T upstream_gene_variant MALY-DE 7 91874070 91874070 single base substitution A C upstream_gene_variant MALY-DE 7 91874142 91874142 single base substitution A G upstream_gene_variant MALY-DE 7 91878289 91878289 single base substitution C T intron_variant MALY-DE 7 91881953 91881953 single base substitution T G intron_variant MALY-DE 7 91883704 91883704 single base substitution T C intron_variant MALY-DE 7 91883951 91883951 single base substitution G A intron_variant MALY-DE 7 91885170 91885170 single base substitution T C intron_variant MALY-DE 7 91886777 91886777 single base substitution T G intron_variant MALY-DE 7 91899926 91899926 single base substitution C A intron_variant MALY-DE 7 91902110 91902110 single base substitution G C intron_variant MALY-DE 7 91909089 91909089 single base substitution C T intron_variant MALY-DE 7 91913502 91913502 single base substitution G T intron_variant MALY-DE 7 91919685 91919686 deletion of <=200bp GT - intron_variant MALY-DE 7 91919685 91919686 deletion of <=200bp GT - upstream_gene_variant MALY-DE 7 91925686 91925686 single base substitution G A intron_variant MALY-DE 7 91929128 91929128 insertion of <=200bp - T intron_variant MALY-DE 7 91937856 91937856 single base substitution T C downstream_gene_variant MALY-DE 7 91937856 91937856 single base substitution T C intron_variant MALY-DE 7 91939254 91939254 single base substitution A T downstream_gene_variant MALY-DE 7 91939254 91939254 single base substitution A T intron_variant MALY-DE 7 91941038 91941038 single base substitution C A downstream_gene_variant MALY-DE 7 91941038 91941038 single base substitution C A intron_variant MALY-DE 7 91941040 91941040 single base substitution A C downstream_gene_variant MALY-DE 7 91941040 91941040 single base substitution A C intron_variant MALY-DE 7 91947867 91947867 single base substitution G C intron_variant MALY-DE 7 91947867 91947867 single base substitution G C upstream_gene_variant MALY-DE 7 91955101 91955101 single base substitution C T intron_variant MALY-DE 7 91969242 91969242 insertion of <=200bp - T intron_variant MALY-DE 7 91969242 91969242 insertion of <=200bp - T upstream_gene_variant MALY-DE 7 91971105 91971105 single base substitution A G intron_variant MALY-DE 7 91971105 91971105 single base substitution A G upstream_gene_variant MALY-DE 7 91971117 91971117 single base substitution A T intron_variant MALY-DE 7 91971117 91971117 single base substitution A T upstream_gene_variant MALY-DE 7 91971165 91971165 single base substitution A C intron_variant MALY-DE 7 91971165 91971165 single base substitution A C upstream_gene_variant MALY-DE 7 91985196 91985196 single base substitution A G intron_variant MALY-DE 7 91985522 91985522 single base substitution G C intron_variant MALY-DE 7 91985985 91985985 single base substitution A T intron_variant MALY-DE 7 91985986 91985986 single base substitution T G intron_variant MALY-DE 7 91987874 91987874 single base substitution A T intron_variant MALY-DE 7 91993939 91993939 single base substitution A C downstream_gene_variant MALY-DE 7 91993939 91993939 single base substitution A C intron_variant MALY-DE 7 91995634 91995634 single base substitution C G downstream_gene_variant MALY-DE 7 91995634 91995634 single base substitution C G intron_variant MALY-DE 7 92008730 92008730 single base substitution C T intron_variant MALY-DE 7 92017739 92017739 single base substitution T C intron_variant MALY-DE 7 92022112 92022112 single base substitution C T intron_variant MALY-DE 7 92022112 92022112 single base substitution C T upstream_gene_variant MELA-AU 7 91870597 91870597 single base substitution C A upstream_gene_variant MELA-AU 7 91870983 91870983 single base substitution G A upstream_gene_variant MELA-AU 7 91871884 91871884 single base substitution G T upstream_gene_variant MELA-AU 7 91872219 91872219 single base substitution C T upstream_gene_variant MELA-AU 7 91872679 91872679 single base substitution T A upstream_gene_variant MELA-AU 7 91873398 91873398 single base substitution A C upstream_gene_variant MELA-AU 7 91873509 91873509 single base substitution T C upstream_gene_variant MELA-AU 7 91873743 91873743 single base substitution T C upstream_gene_variant MELA-AU 7 91873937 91873937 single base substitution T C upstream_gene_variant MELA-AU 7 91873958 91873958 single base substitution G A upstream_gene_variant MELA-AU 7 91874463 91874463 single base substitution A C upstream_gene_variant MELA-AU 7 91875086 91875086 single base substitution G A upstream_gene_variant MELA-AU 7 91875205 91875205 single base substitution C T upstream_gene_variant MELA-AU 7 91875858 91875858 single base substitution A G intron_variant MELA-AU 7 91876027 91876027 single base substitution C T intron_variant MELA-AU 7 91877527 91877527 single base substitution C T intron_variant MELA-AU 7 91877710 91877710 single base substitution G A intron_variant MELA-AU 7 91877731 91877731 single base substitution T A intron_variant MELA-AU 7 91878734 91878734 single base substitution C T intron_variant MELA-AU 7 91879283 91879283 single base substitution G A intron_variant MELA-AU 7 91879455 91879455 single base substitution C T intron_variant MELA-AU 7 91879682 91879682 single base substitution G A intron_variant MELA-AU 7 91880162 91880162 single base substitution C T intron_variant MELA-AU 7 91882185 91882185 single base substitution G A intron_variant MELA-AU 7 91882250 91882250 single base substitution T C intron_variant MELA-AU 7 91883963 91883963 single base substitution C T intron_variant MELA-AU 7 91884191 91884191 single base substitution C T intron_variant MELA-AU 7 91884429 91884429 single base substitution C T intron_variant MELA-AU 7 91885051 91885051 single base substitution C T intron_variant MELA-AU 7 91886989 91886989 single base substitution C T intron_variant MELA-AU 7 91887008 91887009 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 91887031 91887031 single base substitution T G intron_variant MELA-AU 7 91887153 91887153 single base substitution C T intron_variant MELA-AU 7 91887741 91887741 single base substitution C T intron_variant MELA-AU 7 91888111 91888111 single base substitution T C intron_variant MELA-AU 7 91888366 91888366 single base substitution C T intron_variant MELA-AU 7 91888848 91888848 single base substitution A T intron_variant MELA-AU 7 91889052 91889052 single base substitution C T intron_variant MELA-AU 7 91889163 91889163 single base substitution C T intron_variant MELA-AU 7 91889449 91889450 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 7 91889477 91889477 single base substitution C T intron_variant MELA-AU 7 91889629 91889629 single base substitution C T intron_variant MELA-AU 7 91889692 91889692 single base substitution C T intron_variant MELA-AU 7 91889823 91889823 single base substitution C T intron_variant MELA-AU 7 91890263 91890263 single base substitution C T intron_variant MELA-AU 7 91890319 91890319 single base substitution C T intron_variant MELA-AU 7 91890423 91890423 single base substitution G A intron_variant MELA-AU 7 91890768 91890768 single base substitution C T intron_variant MELA-AU 7 91890912 91890912 single base substitution C T intron_variant MELA-AU 7 91890965 91890965 single base substitution A G intron_variant MELA-AU 7 91890988 91890988 single base substitution G A intron_variant MELA-AU 7 91890990 91890990 single base substitution G A intron_variant MELA-AU 7 91891060 91891060 single base substitution C T intron_variant MELA-AU 7 91891165 91891165 single base substitution A G intron_variant MELA-AU 7 91893483 91893483 single base substitution T G intron_variant MELA-AU 7 91893794 91893794 single base substitution C T intron_variant MELA-AU 7 91893951 91893951 single base substitution C T intron_variant MELA-AU 7 91893975 91893975 single base substitution C T intron_variant MELA-AU 7 91894166 91894166 single base substitution A T intron_variant MELA-AU 7 91894293 91894293 single base substitution T A intron_variant MELA-AU 7 91894399 91894399 single base substitution C T intron_variant MELA-AU 7 91894749 91894749 single base substitution C T intron_variant MELA-AU 7 91894942 91894942 single base substitution T C intron_variant MELA-AU 7 91895492 91895492 single base substitution G A intron_variant MELA-AU 7 91895756 91895756 single base substitution C T intron_variant MELA-AU 7 91895785 91895785 single base substitution C T intron_variant MELA-AU 7 91896158 91896158 single base substitution C T intron_variant MELA-AU 7 91896783 91896783 single base substitution C T intron_variant MELA-AU 7 91897523 91897523 single base substitution T C intron_variant MELA-AU 7 91897916 91897916 single base substitution C T intron_variant MELA-AU 7 91897988 91897988 single base substitution C T intron_variant MELA-AU 7 91898106 91898106 single base substitution C A intron_variant MELA-AU 7 91898437 91898437 single base substitution C T intron_variant MELA-AU 7 91898595 91898595 single base substitution C T intron_variant MELA-AU 7 91898652 91898652 single base substitution C T intron_variant MELA-AU 7 91899310 91899310 single base substitution C T intron_variant MELA-AU 7 91899500 91899500 single base substitution C T intron_variant MELA-AU 7 91899962 91899962 single base substitution C T intron_variant MELA-AU 7 91900641 91900641 single base substitution C T intron_variant MELA-AU 7 91901073 91901073 single base substitution C T intron_variant MELA-AU 7 91901210 91901210 single base substitution A T intron_variant MELA-AU 7 91901255 91901255 single base substitution C T intron_variant MELA-AU 7 91901296 91901296 single base substitution C T intron_variant MELA-AU 7 91901396 91901396 single base substitution T C intron_variant MELA-AU 7 91901753 91901753 single base substitution C T intron_variant MELA-AU 7 91903406 91903406 single base substitution A G intron_variant MELA-AU 7 91904095 91904095 single base substitution C T intron_variant MELA-AU 7 91904352 91904352 single base substitution C T intron_variant MELA-AU 7 91904459 91904459 single base substitution C T intron_variant MELA-AU 7 91904632 91904632 single base substitution A C intron_variant MELA-AU 7 91904774 91904774 single base substitution G A intron_variant MELA-AU 7 91905969 91905969 single base substitution A T intron_variant MELA-AU 7 91906015 91906015 single base substitution C T intron_variant MELA-AU 7 91906365 91906365 single base substitution C T intron_variant MELA-AU 7 91906431 91906431 single base substitution C T intron_variant MELA-AU 7 91906826 91906826 single base substitution G A intron_variant MELA-AU 7 91907008 91907008 single base substitution C T intron_variant MELA-AU 7 91907195 91907195 single base substitution C T intron_variant MELA-AU 7 91907205 91907205 single base substitution C T intron_variant MELA-AU 7 91907411 91907411 single base substitution A T intron_variant MELA-AU 7 91907505 91907505 single base substitution C T intron_variant MELA-AU 7 91907571 91907571 single base substitution A G intron_variant MELA-AU 7 91908068 91908068 single base substitution T G intron_variant MELA-AU 7 91908087 91908087 single base substitution G T intron_variant MELA-AU 7 91908111 91908111 single base substitution C T intron_variant MELA-AU 7 91908595 91908595 single base substitution C T intron_variant MELA-AU 7 91909099 91909099 single base substitution C T intron_variant MELA-AU 7 91909371 91909371 single base substitution C G intron_variant MELA-AU 7 91910131 91910131 single base substitution C T intron_variant MELA-AU 7 91910542 91910542 single base substitution C T intron_variant MELA-AU 7 91910567 91910567 single base substitution C T intron_variant MELA-AU 7 91910915 91910915 single base substitution G C intron_variant MELA-AU 7 91911237 91911237 single base substitution A T intron_variant MELA-AU 7 91911495 91911495 single base substitution A T intron_variant MELA-AU 7 91911537 91911537 single base substitution G C intron_variant MELA-AU 7 91911824 91911824 single base substitution G A intron_variant MELA-AU 7 91913021 91913021 single base substitution T G intron_variant MELA-AU 7 91913580 91913580 single base substitution G A intron_variant MELA-AU 7 91913582 91913582 single base substitution G T intron_variant MELA-AU 7 91914491 91914491 single base substitution C T intron_variant MELA-AU 7 91915550 91915550 single base substitution C T intron_variant MELA-AU 7 91916222 91916222 single base substitution C T intron_variant MELA-AU 7 91917245 91917245 single base substitution G A intron_variant MELA-AU 7 91917344 91917344 single base substitution C T intron_variant MELA-AU 7 91917574 91917575 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 91918758 91918758 single base substitution C T intron_variant MELA-AU 7 91919313 91919313 single base substitution T G intron_variant MELA-AU 7 91919313 91919313 single base substitution T G upstream_gene_variant MELA-AU 7 91919832 91919832 single base substitution A G intron_variant MELA-AU 7 91919832 91919832 single base substitution A G upstream_gene_variant MELA-AU 7 91919990 91919990 single base substitution C T intron_variant MELA-AU 7 91919990 91919990 single base substitution C T upstream_gene_variant MELA-AU 7 91921130 91921130 single base substitution C T intron_variant MELA-AU 7 91921130 91921130 single base substitution C T upstream_gene_variant MELA-AU 7 91922583 91922583 single base substitution T G intron_variant MELA-AU 7 91922583 91922583 single base substitution T G upstream_gene_variant MELA-AU 7 91923341 91923341 single base substitution T A intron_variant MELA-AU 7 91923341 91923341 single base substitution T A upstream_gene_variant MELA-AU 7 91924097 91924097 single base substitution C T intron_variant MELA-AU 7 91924113 91924113 single base substitution C T intron_variant MELA-AU 7 91924316 91924316 single base substitution C T synonymous_variant F8F 24C>T MELA-AU 7 91924924 91924924 single base substitution T C intron_variant MELA-AU 7 91924987 91924987 single base substitution C T intron_variant MELA-AU 7 91925300 91925300 single base substitution A C intron_variant MELA-AU 7 91925802 91925802 single base substitution G A intron_variant MELA-AU 7 91926354 91926354 single base substitution C T intron_variant MELA-AU 7 91926948 91926948 single base substitution C T intron_variant MELA-AU 7 91928110 91928110 single base substitution C T intron_variant MELA-AU 7 91928123 91928123 single base substitution C T intron_variant MELA-AU 7 91928126 91928126 single base substitution C T intron_variant MELA-AU 7 91928949 91928949 single base substitution C T intron_variant MELA-AU 7 91929105 91929105 single base substitution C T intron_variant MELA-AU 7 91929206 91929206 single base substitution G T intron_variant MELA-AU 7 91929228 91929228 single base substitution C T intron_variant MELA-AU 7 91929318 91929318 single base substitution C T intron_variant MELA-AU 7 91929373 91929373 single base substitution C T intron_variant MELA-AU 7 91929408 91929408 single base substitution C T intron_variant MELA-AU 7 91929438 91929438 single base substitution C T intron_variant MELA-AU 7 91930352 91930352 single base substitution A G intron_variant MELA-AU 7 91930817 91930817 single base substitution C T intron_variant MELA-AU 7 91930957 91930957 single base substitution C T intron_variant MELA-AU 7 91930985 91930985 single base substitution T A intron_variant MELA-AU 7 91931043 91931043 single base substitution G A intron_variant MELA-AU 7 91931405 91931405 single base substitution C T intron_variant MELA-AU 7 91931709 91931709 single base substitution C T intron_variant MELA-AU 7 91931709 91931709 single base substitution C T upstream_gene_variant MELA-AU 7 91932515 91932515 single base substitution G A intron_variant MELA-AU 7 91932515 91932515 single base substitution G A upstream_gene_variant MELA-AU 7 91932535 91932535 single base substitution C T intron_variant MELA-AU 7 91932535 91932535 single base substitution C T upstream_gene_variant MELA-AU 7 91933223 91933223 single base substitution A G intron_variant MELA-AU 7 91933223 91933223 single base substitution A G upstream_gene_variant MELA-AU 7 91934064 91934064 single base substitution C T intron_variant MELA-AU 7 91934064 91934064 single base substitution C T upstream_gene_variant MELA-AU 7 91934328 91934328 single base substitution C T intron_variant MELA-AU 7 91934328 91934328 single base substitution C T upstream_gene_variant MELA-AU 7 91934471 91934471 single base substitution C T intron_variant MELA-AU 7 91934471 91934471 single base substitution C T upstream_gene_variant MELA-AU 7 91935291 91935291 single base substitution C T intron_variant MELA-AU 7 91935291 91935291 single base substitution C T upstream_gene_variant MELA-AU 7 91935444 91935444 single base substitution C T intron_variant MELA-AU 7 91935444 91935444 single base substitution C T upstream_gene_variant MELA-AU 7 91935749 91935749 single base substitution T C intron_variant MELA-AU 7 91935749 91935749 single base substitution T C upstream_gene_variant MELA-AU 7 91935913 91935913 single base substitution C T intron_variant MELA-AU 7 91935913 91935913 single base substitution C T upstream_gene_variant MELA-AU 7 91936047 91936047 single base substitution A C intron_variant MELA-AU 7 91936047 91936047 single base substitution A C upstream_gene_variant MELA-AU 7 91936884 91936884 single base substitution G T exon_variant MELA-AU 7 91936884 91936884 single base substitution G T stop_gained E134* 400G>T MELA-AU 7 91936956 91936956 single base substitution A C downstream_gene_variant MELA-AU 7 91936956 91936956 single base substitution A C exon_variant MELA-AU 7 91936956 91936956 single base substitution A C missense_variant K158Q 472A>C MELA-AU 7 91937430 91937430 single base substitution C T downstream_gene_variant MELA-AU 7 91937430 91937430 single base substitution C T intron_variant MELA-AU 7 91937697 91937697 single base substitution A T downstream_gene_variant MELA-AU 7 91937697 91937697 single base substitution A T intron_variant MELA-AU 7 91938096 91938096 single base substitution C T downstream_gene_variant MELA-AU 7 91938096 91938096 single base substitution C T intron_variant MELA-AU 7 91938404 91938404 single base substitution C T downstream_gene_variant MELA-AU 7 91938404 91938404 single base substitution C T intron_variant MELA-AU 7 91938507 91938507 single base substitution C T downstream_gene_variant MELA-AU 7 91938507 91938507 single base substitution C T intron_variant MELA-AU 7 91938607 91938607 single base substitution C T downstream_gene_variant MELA-AU 7 91938607 91938607 single base substitution C T intron_variant MELA-AU 7 91938781 91938781 single base substitution C T downstream_gene_variant MELA-AU 7 91938781 91938781 single base substitution C T intron_variant MELA-AU 7 91939382 91939382 single base substitution C T downstream_gene_variant MELA-AU 7 91939382 91939382 single base substitution C T intron_variant MELA-AU 7 91940158 91940158 single base substitution T C downstream_gene_variant MELA-AU 7 91940158 91940158 single base substitution T C intron_variant MELA-AU 7 91940751 91940751 single base substitution C T downstream_gene_variant MELA-AU 7 91940751 91940751 single base substitution C T intron_variant MELA-AU 7 91940860 91940860 single base substitution G A downstream_gene_variant MELA-AU 7 91940860 91940860 single base substitution G A intron_variant MELA-AU 7 91941020 91941020 single base substitution C T downstream_gene_variant MELA-AU 7 91941020 91941020 single base substitution C T intron_variant MELA-AU 7 91941852 91941852 single base substitution C T downstream_gene_variant MELA-AU 7 91941852 91941852 single base substitution C T intron_variant MELA-AU 7 91941868 91941868 single base substitution C T downstream_gene_variant MELA-AU 7 91941868 91941868 single base substitution C T intron_variant MELA-AU 7 91942806 91942806 single base substitution C T intron_variant MELA-AU 7 91942809 91942809 single base substitution G A intron_variant MELA-AU 7 91943131 91943131 single base substitution C T intron_variant MELA-AU 7 91943332 91943332 single base substitution C T intron_variant MELA-AU 7 91943541 91943541 single base substitution G A intron_variant MELA-AU 7 91943900 91943900 single base substitution C T intron_variant MELA-AU 7 91943900 91943900 single base substitution C T upstream_gene_variant MELA-AU 7 91944113 91944113 single base substitution G A intron_variant MELA-AU 7 91944113 91944113 single base substitution G A upstream_gene_variant MELA-AU 7 91944475 91944475 single base substitution G A intron_variant MELA-AU 7 91944475 91944475 single base substitution G A upstream_gene_variant MELA-AU 7 91945087 91945087 single base substitution G A intron_variant MELA-AU 7 91945087 91945087 single base substitution G A upstream_gene_variant MELA-AU 7 91946674 91946674 single base substitution C T intron_variant MELA-AU 7 91946674 91946674 single base substitution C T upstream_gene_variant MELA-AU 7 91946857 91946857 single base substitution C T intron_variant MELA-AU 7 91946857 91946857 single base substitution C T upstream_gene_variant MELA-AU 7 91946998 91946998 single base substitution C T intron_variant MELA-AU 7 91946998 91946998 single base substitution C T upstream_gene_variant MELA-AU 7 91947713 91947713 single base substitution C T intron_variant MELA-AU 7 91947713 91947713 single base substitution C T upstream_gene_variant MELA-AU 7 91947995 91947995 single base substitution C A intron_variant MELA-AU 7 91947995 91947995 single base substitution C A upstream_gene_variant MELA-AU 7 91948467 91948467 single base substitution A T intron_variant MELA-AU 7 91948467 91948467 single base substitution A T upstream_gene_variant MELA-AU 7 91949394 91949394 single base substitution C T downstream_gene_variant MELA-AU 7 91949394 91949394 single base substitution C T intron_variant MELA-AU 7 91949518 91949518 single base substitution C T downstream_gene_variant MELA-AU 7 91949518 91949518 single base substitution C T intron_variant MELA-AU 7 91949699 91949699 single base substitution G T downstream_gene_variant MELA-AU 7 91949699 91949699 single base substitution G T intron_variant MELA-AU 7 91950048 91950048 single base substitution C T downstream_gene_variant MELA-AU 7 91950048 91950048 single base substitution C T intron_variant MELA-AU 7 91950248 91950248 single base substitution C T downstream_gene_variant MELA-AU 7 91950248 91950248 single base substitution C T intron_variant MELA-AU 7 91950548 91950548 single base substitution C T downstream_gene_variant MELA-AU 7 91950548 91950548 single base substitution C T intron_variant MELA-AU 7 91950597 91950597 single base substitution T C downstream_gene_variant MELA-AU 7 91950597 91950597 single base substitution T C intron_variant MELA-AU 7 91951033 91951033 single base substitution C T downstream_gene_variant MELA-AU 7 91951033 91951033 single base substitution C T intron_variant MELA-AU 7 91951045 91951045 single base substitution C T downstream_gene_variant MELA-AU 7 91951045 91951045 single base substitution C T intron_variant MELA-AU 7 91951496 91951496 single base substitution C T downstream_gene_variant MELA-AU 7 91951496 91951496 single base substitution C T intron_variant MELA-AU 7 91951546 91951546 single base substitution C T downstream_gene_variant MELA-AU 7 91951546 91951546 single base substitution C T intron_variant MELA-AU 7 91952190 91952190 single base substitution C T downstream_gene_variant MELA-AU 7 91952190 91952190 single base substitution C T intron_variant MELA-AU 7 91952280 91952280 single base substitution C T downstream_gene_variant MELA-AU 7 91952280 91952280 single base substitution C T intron_variant MELA-AU 7 91952409 91952409 single base substitution T A downstream_gene_variant MELA-AU 7 91952409 91952409 single base substitution T A intron_variant MELA-AU 7 91952454 91952454 single base substitution T C downstream_gene_variant MELA-AU 7 91952454 91952454 single base substitution T C intron_variant MELA-AU 7 91952472 91952472 single base substitution G C downstream_gene_variant MELA-AU 7 91952472 91952472 single base substitution G C intron_variant MELA-AU 7 91952678 91952678 single base substitution C T downstream_gene_variant MELA-AU 7 91952678 91952678 single base substitution C T intron_variant MELA-AU 7 91952794 91952794 single base substitution C T downstream_gene_variant MELA-AU 7 91952794 91952794 single base substitution C T intron_variant MELA-AU 7 91954715 91954715 single base substitution G A intron_variant MELA-AU 7 91955254 91955265 deletion of <=200bp TGAAGGTTATTG - 3_prime_UTR_variant MELA-AU 7 91955254 91955265 deletion of <=200bp TGAAGGTTATTG - intron_variant MELA-AU 7 91955633 91955633 single base substitution A C intron_variant MELA-AU 7 91955718 91955718 single base substitution C T intron_variant MELA-AU 7 91959126 91959126 single base substitution C T intron_variant MELA-AU 7 91959425 91959425 single base substitution C T intron_variant MELA-AU 7 91959510 91959510 single base substitution T C intron_variant MELA-AU 7 91959567 91959567 single base substitution T C intron_variant MELA-AU 7 91960343 91960343 single base substitution A T intron_variant MELA-AU 7 91960771 91960772 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 91961743 91961743 single base substitution C T intron_variant MELA-AU 7 91962038 91962038 single base substitution C T intron_variant MELA-AU 7 91962523 91962523 single base substitution C T intron_variant MELA-AU 7 91962816 91962816 single base substitution C T intron_variant MELA-AU 7 91962847 91962847 single base substitution T A intron_variant MELA-AU 7 91965259 91965259 single base substitution C T intron_variant MELA-AU 7 91965328 91965328 single base substitution A G intron_variant MELA-AU 7 91965497 91965497 single base substitution C T intron_variant MELA-AU 7 91965813 91965813 single base substitution C T intron_variant MELA-AU 7 91965909 91965909 single base substitution A G intron_variant MELA-AU 7 91966283 91966283 single base substitution G C intron_variant MELA-AU 7 91966591 91966591 single base substitution G A intron_variant MELA-AU 7 91966892 91966892 single base substitution C T intron_variant MELA-AU 7 91967335 91967335 single base substitution G T intron_variant MELA-AU 7 91967648 91967648 single base substitution C T intron_variant MELA-AU 7 91967648 91967648 single base substitution C T upstream_gene_variant MELA-AU 7 91968479 91968479 single base substitution C T intron_variant MELA-AU 7 91968479 91968479 single base substitution C T upstream_gene_variant MELA-AU 7 91968788 91968788 single base substitution C T intron_variant MELA-AU 7 91968788 91968788 single base substitution C T upstream_gene_variant MELA-AU 7 91968865 91968865 single base substitution C T intron_variant MELA-AU 7 91968865 91968865 single base substitution C T upstream_gene_variant MELA-AU 7 91969204 91969204 single base substitution C T intron_variant MELA-AU 7 91969204 91969204 single base substitution C T upstream_gene_variant MELA-AU 7 91970429 91970429 single base substitution G T intron_variant MELA-AU 7 91970429 91970429 single base substitution G T upstream_gene_variant MELA-AU 7 91970444 91970444 single base substitution C T intron_variant MELA-AU 7 91970444 91970444 single base substitution C T upstream_gene_variant MELA-AU 7 91970799 91970799 single base substitution C G intron_variant MELA-AU 7 91970799 91970799 single base substitution C G upstream_gene_variant MELA-AU 7 91971150 91971150 single base substitution C T intron_variant MELA-AU 7 91971150 91971150 single base substitution C T upstream_gene_variant MELA-AU 7 91971158 91971158 single base substitution C T intron_variant MELA-AU 7 91971158 91971158 single base substitution C T upstream_gene_variant MELA-AU 7 91971242 91971242 single base substitution G A intron_variant MELA-AU 7 91971242 91971242 single base substitution G A upstream_gene_variant MELA-AU 7 91971274 91971274 single base substitution T C intron_variant MELA-AU 7 91971274 91971274 single base substitution T C upstream_gene_variant MELA-AU 7 91971275 91971275 single base substitution C T intron_variant MELA-AU 7 91971275 91971275 single base substitution C T upstream_gene_variant MELA-AU 7 91971564 91971564 single base substitution C T intron_variant MELA-AU 7 91971564 91971564 single base substitution C T upstream_gene_variant MELA-AU 7 91971732 91971732 single base substitution T A intron_variant MELA-AU 7 91971732 91971732 single base substitution T A upstream_gene_variant MELA-AU 7 91971968 91971968 deletion of <=200bp A - intron_variant MELA-AU 7 91971968 91971968 deletion of <=200bp A - upstream_gene_variant MELA-AU 7 91972152 91972152 single base substitution T C intron_variant MELA-AU 7 91972152 91972152 single base substitution T C upstream_gene_variant MELA-AU 7 91972331 91972331 single base substitution C T intron_variant MELA-AU 7 91972331 91972331 single base substitution C T splice_region_variant MELA-AU 7 91972331 91972331 single base substitution C T upstream_gene_variant MELA-AU 7 91972627 91972627 single base substitution G A downstream_gene_variant MELA-AU 7 91972627 91972627 single base substitution G A intron_variant MELA-AU 7 91972838 91972838 single base substitution G A downstream_gene_variant MELA-AU 7 91972838 91972838 single base substitution G A intron_variant MELA-AU 7 91972952 91972952 single base substitution C T downstream_gene_variant MELA-AU 7 91972952 91972952 single base substitution C T intron_variant MELA-AU 7 91973609 91973609 single base substitution C T downstream_gene_variant MELA-AU 7 91973609 91973609 single base substitution C T intron_variant MELA-AU 7 91973628 91973628 single base substitution C T downstream_gene_variant MELA-AU 7 91973628 91973628 single base substitution C T intron_variant MELA-AU 7 91974010 91974010 single base substitution C T downstream_gene_variant MELA-AU 7 91974010 91974010 single base substitution C T intron_variant MELA-AU 7 91974090 91974090 single base substitution C T downstream_gene_variant MELA-AU 7 91974090 91974090 single base substitution C T intron_variant MELA-AU 7 91974528 91974528 single base substitution G A downstream_gene_variant MELA-AU 7 91974528 91974528 single base substitution G A intron_variant MELA-AU 7 91975650 91975650 single base substitution G A downstream_gene_variant MELA-AU 7 91975650 91975650 single base substitution G A intron_variant MELA-AU 7 91975664 91975664 single base substitution C T downstream_gene_variant MELA-AU 7 91975664 91975664 single base substitution C T intron_variant MELA-AU 7 91975748 91975748 single base substitution C T downstream_gene_variant MELA-AU 7 91975748 91975748 single base substitution C T intron_variant MELA-AU 7 91975941 91975941 single base substitution C T downstream_gene_variant MELA-AU 7 91975941 91975941 single base substitution C T intron_variant MELA-AU 7 91976080 91976080 single base substitution C T downstream_gene_variant MELA-AU 7 91976080 91976080 single base substitution C T intron_variant MELA-AU 7 91976386 91976386 single base substitution C T downstream_gene_variant MELA-AU 7 91976386 91976386 single base substitution C T intron_variant MELA-AU 7 91976574 91976574 single base substitution C T downstream_gene_variant MELA-AU 7 91976574 91976574 single base substitution C T intron_variant MELA-AU 7 91976988 91976988 single base substitution T C downstream_gene_variant MELA-AU 7 91976988 91976988 single base substitution T C intron_variant MELA-AU 7 91977377 91977377 single base substitution C T downstream_gene_variant MELA-AU 7 91977377 91977377 single base substitution C T intron_variant MELA-AU 7 91977620 91977620 single base substitution C T intron_variant MELA-AU 7 91977735 91977735 single base substitution C T intron_variant MELA-AU 7 91978025 91978025 single base substitution C T intron_variant MELA-AU 7 91978183 91978183 single base substitution C T intron_variant MELA-AU 7 91978306 91978306 single base substitution G A intron_variant MELA-AU 7 91978401 91978401 single base substitution A G intron_variant MELA-AU 7 91978652 91978652 single base substitution G A intron_variant MELA-AU 7 91978899 91978899 single base substitution T C intron_variant MELA-AU 7 91980252 91980252 single base substitution C T intron_variant MELA-AU 7 91980447 91980447 single base substitution T G intron_variant MELA-AU 7 91980605 91980605 single base substitution G A intron_variant MELA-AU 7 91981337 91981337 single base substitution C T intron_variant MELA-AU 7 91981665 91981665 single base substitution C T intron_variant MELA-AU 7 91981759 91981759 single base substitution C T intron_variant MELA-AU 7 91983868 91983868 single base substitution G A intron_variant MELA-AU 7 91984352 91984352 single base substitution C T intron_variant MELA-AU 7 91984603 91984603 single base substitution A T intron_variant MELA-AU 7 91984787 91984787 single base substitution C T intron_variant MELA-AU 7 91984811 91984811 single base substitution A T intron_variant MELA-AU 7 91985157 91985157 single base substitution C T intron_variant MELA-AU 7 91986262 91986262 single base substitution G A intron_variant MELA-AU 7 91986356 91986356 single base substitution C T intron_variant MELA-AU 7 91986480 91986480 single base substitution C T intron_variant MELA-AU 7 91986796 91986796 single base substitution C T intron_variant MELA-AU 7 91986846 91986846 single base substitution C T intron_variant MELA-AU 7 91987366 91987366 single base substitution C T intron_variant MELA-AU 7 91987446 91987446 single base substitution C T intron_variant MELA-AU 7 91988533 91988533 single base substitution C T intron_variant MELA-AU 7 91988697 91988697 single base substitution C T intron_variant MELA-AU 7 91988787 91988787 single base substitution C T intron_variant MELA-AU 7 91988967 91988967 single base substitution C G intron_variant MELA-AU 7 91989271 91989271 single base substitution C G intron_variant MELA-AU 7 91989317 91989317 single base substitution C T intron_variant MELA-AU 7 91989663 91989663 single base substitution C T intron_variant MELA-AU 7 91989793 91989793 single base substitution T A intron_variant MELA-AU 7 91989862 91989862 single base substitution A T intron_variant MELA-AU 7 91990055 91990055 single base substitution A T intron_variant MELA-AU 7 91990119 91990119 single base substitution C T intron_variant MELA-AU 7 91990423 91990423 single base substitution C T intron_variant MELA-AU 7 91990510 91990510 single base substitution C A intron_variant MELA-AU 7 91990512 91990512 single base substitution A G intron_variant MELA-AU 7 91990620 91990620 single base substitution C T intron_variant MELA-AU 7 91990783 91990783 single base substitution C T intron_variant MELA-AU 7 91990788 91990788 single base substitution G A intron_variant MELA-AU 7 91990951 91990951 single base substitution A T intron_variant MELA-AU 7 91991059 91991059 single base substitution C T intron_variant MELA-AU 7 91991153 91991153 single base substitution C T intron_variant MELA-AU 7 91991857 91991857 single base substitution C T downstream_gene_variant MELA-AU 7 91991857 91991857 single base substitution C T intron_variant MELA-AU 7 91992212 91992212 single base substitution C T downstream_gene_variant MELA-AU 7 91992212 91992212 single base substitution C T intron_variant MELA-AU 7 91992292 91992292 single base substitution C T downstream_gene_variant MELA-AU 7 91992292 91992292 single base substitution C T intron_variant MELA-AU 7 91992717 91992718 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 91992717 91992718 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 91992890 91992890 single base substitution C T downstream_gene_variant MELA-AU 7 91992890 91992890 single base substitution C T intron_variant MELA-AU 7 91992924 91992924 single base substitution C T downstream_gene_variant MELA-AU 7 91992924 91992924 single base substitution C T intron_variant MELA-AU 7 91993205 91993205 single base substitution C T downstream_gene_variant MELA-AU 7 91993205 91993205 single base substitution C T intron_variant MELA-AU 7 91993386 91993387 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 91993386 91993387 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 91993484 91993484 single base substitution C A downstream_gene_variant MELA-AU 7 91993484 91993484 single base substitution C A intron_variant MELA-AU 7 91993510 91993510 single base substitution C T downstream_gene_variant MELA-AU 7 91993510 91993510 single base substitution C T intron_variant MELA-AU 7 91994158 91994158 single base substitution C T downstream_gene_variant MELA-AU 7 91994158 91994158 single base substitution C T intron_variant MELA-AU 7 91994160 91994160 single base substitution G A downstream_gene_variant MELA-AU 7 91994160 91994160 single base substitution G A intron_variant MELA-AU 7 91994981 91994981 single base substitution G A downstream_gene_variant MELA-AU 7 91994981 91994981 single base substitution G A intron_variant MELA-AU 7 91995141 91995141 single base substitution C T downstream_gene_variant MELA-AU 7 91995141 91995141 single base substitution C T intron_variant MELA-AU 7 91995221 91995221 single base substitution C T downstream_gene_variant MELA-AU 7 91995221 91995221 single base substitution C T intron_variant MELA-AU 7 91995598 91995598 single base substitution T A downstream_gene_variant MELA-AU 7 91995598 91995598 single base substitution T A intron_variant MELA-AU 7 91995617 91995617 single base substitution G A downstream_gene_variant MELA-AU 7 91995617 91995617 single base substitution G A intron_variant MELA-AU 7 91995991 91995991 single base substitution T C downstream_gene_variant MELA-AU 7 91995991 91995991 single base substitution T C intron_variant MELA-AU 7 91995991 91995991 single base substitution T C upstream_gene_variant MELA-AU 7 91996213 91996213 single base substitution C T downstream_gene_variant MELA-AU 7 91996213 91996213 single base substitution C T intron_variant MELA-AU 7 91996213 91996213 single base substitution C T upstream_gene_variant MELA-AU 7 91996386 91996386 single base substitution T C downstream_gene_variant MELA-AU 7 91996386 91996386 single base substitution T C intron_variant MELA-AU 7 91996386 91996386 single base substitution T C upstream_gene_variant MELA-AU 7 91996494 91996494 single base substitution G A downstream_gene_variant MELA-AU 7 91996494 91996494 single base substitution G A intron_variant MELA-AU 7 91996494 91996494 single base substitution G A upstream_gene_variant MELA-AU 7 91996505 91996505 single base substitution C T downstream_gene_variant MELA-AU 7 91996505 91996505 single base substitution C T intron_variant MELA-AU 7 91996505 91996505 single base substitution C T upstream_gene_variant MELA-AU 7 91996508 91996508 single base substitution G C downstream_gene_variant MELA-AU 7 91996508 91996508 single base substitution G C intron_variant MELA-AU 7 91996508 91996508 single base substitution G C upstream_gene_variant MELA-AU 7 91996947 91996947 single base substitution G A intron_variant MELA-AU 7 91996947 91996947 single base substitution G A upstream_gene_variant MELA-AU 7 91997020 91997020 single base substitution C T intron_variant MELA-AU 7 91997020 91997020 single base substitution C T upstream_gene_variant MELA-AU 7 91997850 91997850 single base substitution G A intron_variant MELA-AU 7 91997850 91997850 single base substitution G A upstream_gene_variant MELA-AU 7 91998028 91998028 single base substitution C T intron_variant MELA-AU 7 91998028 91998028 single base substitution C T upstream_gene_variant MELA-AU 7 91998563 91998563 single base substitution C T intron_variant MELA-AU 7 91998563 91998563 single base substitution C T upstream_gene_variant MELA-AU 7 91999537 91999537 single base substitution T G intron_variant MELA-AU 7 91999537 91999537 single base substitution T G upstream_gene_variant MELA-AU 7 92000456 92000456 single base substitution T C intron_variant MELA-AU 7 92000456 92000456 single base substitution T C upstream_gene_variant MELA-AU 7 92000501 92000501 single base substitution T A intron_variant MELA-AU 7 92000501 92000501 single base substitution T A upstream_gene_variant MELA-AU 7 92000959 92000960 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 92001226 92001226 single base substitution C T intron_variant MELA-AU 7 92001424 92001424 single base substitution C T intron_variant MELA-AU 7 92001684 92001684 single base substitution G A intron_variant MELA-AU 7 92001774 92001774 single base substitution C T intron_variant MELA-AU 7 92002125 92002125 single base substitution C T intron_variant MELA-AU 7 92002144 92002144 single base substitution C T intron_variant MELA-AU 7 92002267 92002267 single base substitution A T intron_variant MELA-AU 7 92003277 92003277 single base substitution C T intron_variant MELA-AU 7 92003325 92003325 single base substitution C T intron_variant MELA-AU 7 92004135 92004135 single base substitution C T intron_variant MELA-AU 7 92004794 92004794 single base substitution C T intron_variant MELA-AU 7 92004993 92004993 single base substitution C T intron_variant MELA-AU 7 92005072 92005073 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 92006099 92006099 single base substitution C T intron_variant MELA-AU 7 92006727 92006727 single base substitution C T intron_variant MELA-AU 7 92007610 92007610 single base substitution C T intron_variant MELA-AU 7 92008047 92008047 single base substitution C T intron_variant MELA-AU 7 92008115 92008115 single base substitution C T intron_variant MELA-AU 7 92008453 92008453 single base substitution C T intron_variant MELA-AU 7 92008489 92008489 single base substitution G T intron_variant MELA-AU 7 92008629 92008629 single base substitution C T intron_variant MELA-AU 7 92008872 92008872 single base substitution C T intron_variant MELA-AU 7 92009016 92009016 single base substitution C T intron_variant MELA-AU 7 92009482 92009482 single base substitution C T intron_variant MELA-AU 7 92009586 92009586 single base substitution C T intron_variant MELA-AU 7 92009667 92009667 single base substitution C T intron_variant MELA-AU 7 92010236 92010236 single base substitution A G intron_variant MELA-AU 7 92010291 92010291 single base substitution C T intron_variant MELA-AU 7 92010775 92010776 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 92011830 92011830 single base substitution G A intron_variant MELA-AU 7 92012471 92012471 single base substitution C T intron_variant MELA-AU 7 92012687 92012687 single base substitution C T intron_variant MELA-AU 7 92012851 92012851 single base substitution C T intron_variant MELA-AU 7 92012876 92012876 single base substitution C T intron_variant MELA-AU 7 92013157 92013157 single base substitution C T intron_variant MELA-AU 7 92013753 92013753 single base substitution G A intron_variant MELA-AU 7 92014019 92014019 single base substitution C T intron_variant MELA-AU 7 92014020 92014020 single base substitution C T intron_variant MELA-AU 7 92014134 92014134 single base substitution G A intron_variant MELA-AU 7 92014315 92014315 single base substitution G A intron_variant MELA-AU 7 92015509 92015509 single base substitution G A intron_variant MELA-AU 7 92015645 92015645 single base substitution C T intron_variant MELA-AU 7 92016033 92016033 single base substitution C T intron_variant MELA-AU 7 92017282 92017282 single base substitution C T splice_region_variant MELA-AU 7 92018700 92018700 single base substitution T C intron_variant MELA-AU 7 92019133 92019133 single base substitution T C intron_variant MELA-AU 7 92020537 92020537 single base substitution C T 3_prime_UTR_variant MELA-AU 7 92020537 92020537 single base substitution C T missense_variant R704C 2110C>T MELA-AU 7 92020537 92020537 single base substitution C T upstream_gene_variant MELA-AU 7 92020599 92020599 single base substitution C T 3_prime_UTR_variant MELA-AU 7 92020599 92020599 single base substitution C T synonymous_variant F724F 2172C>T MELA-AU 7 92020599 92020599 single base substitution C T upstream_gene_variant MELA-AU 7 92021422 92021422 single base substitution T A intron_variant MELA-AU 7 92021422 92021422 single base substitution T A upstream_gene_variant MELA-AU 7 92022417 92022417 single base substitution C T intron_variant MELA-AU 7 92022417 92022417 single base substitution C T upstream_gene_variant MELA-AU 7 92023457 92023457 single base substitution C T intron_variant MELA-AU 7 92023457 92023457 single base substitution C T upstream_gene_variant MELA-AU 7 92023580 92023580 single base substitution C T intron_variant MELA-AU 7 92023580 92023580 single base substitution C T upstream_gene_variant MELA-AU 7 92023631 92023631 single base substitution C T intron_variant MELA-AU 7 92023631 92023631 single base substitution C T upstream_gene_variant MELA-AU 7 92023989 92023989 single base substitution C T intron_variant MELA-AU 7 92023989 92023989 single base substitution C T upstream_gene_variant MELA-AU 7 92024046 92024046 single base substitution C T intron_variant MELA-AU 7 92024046 92024046 single base substitution C T upstream_gene_variant MELA-AU 7 92024367 92024367 single base substitution A G intron_variant MELA-AU 7 92024367 92024367 single base substitution A G upstream_gene_variant MELA-AU 7 92024766 92024766 single base substitution C T intron_variant MELA-AU 7 92024766 92024766 single base substitution C T upstream_gene_variant MELA-AU 7 92025328 92025329 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 7 92025328 92025329 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 92025522 92025522 single base substitution C T exon_variant MELA-AU 7 92025522 92025522 single base substitution C T intron_variant MELA-AU 7 92025592 92025593 multiple base substitution (>=2bp and <=200bp) TC AT exon_variant MELA-AU 7 92025592 92025593 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 7 92025701 92025701 single base substitution G A 3_prime_UTR_variant MELA-AU 7 92025701 92025701 single base substitution G A exon_variant MELA-AU 7 92025701 92025701 single base substitution G A missense_variant R769Q 2306G>A MELA-AU 7 92025734 92025734 single base substitution T C 3_prime_UTR_variant MELA-AU 7 92025734 92025734 single base substitution T C exon_variant MELA-AU 7 92025734 92025734 single base substitution T C missense_variant V780A 2339T>C MELA-AU 7 92026287 92026287 single base substitution C T intron_variant MELA-AU 7 92026342 92026342 single base substitution C T intron_variant MELA-AU 7 92026381 92026381 single base substitution C T intron_variant MELA-AU 7 92026794 92026794 single base substitution C T intron_variant MELA-AU 7 92026891 92026892 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 92026985 92026985 single base substitution A G intron_variant MELA-AU 7 92027358 92027358 single base substitution C T downstream_gene_variant MELA-AU 7 92027358 92027358 single base substitution C T intron_variant MELA-AU 7 92027581 92027581 single base substitution C T 3_prime_UTR_variant MELA-AU 7 92027581 92027581 single base substitution C T downstream_gene_variant MELA-AU 7 92027581 92027581 single base substitution C T missense_variant S863L 2588C>T MELA-AU 7 92028005 92028005 single base substitution C T 3_prime_UTR_variant MELA-AU 7 92028005 92028005 single base substitution C T downstream_gene_variant MELA-AU 7 92028005 92028005 single base substitution C T synonymous_variant I1004I 3012C>T MELA-AU 7 92028026 92028026 single base substitution G A 3_prime_UTR_variant MELA-AU 7 92028026 92028026 single base substitution G A downstream_gene_variant MELA-AU 7 92028026 92028026 single base substitution G A synonymous_variant V1011V 3033G>A MELA-AU 7 92028448 92028448 single base substitution C T 3_prime_UTR_variant MELA-AU 7 92028448 92028448 single base substitution C T downstream_gene_variant MELA-AU 7 92028617 92028617 single base substitution T C 3_prime_UTR_variant MELA-AU 7 92028617 92028617 single base substitution T C downstream_gene_variant MELA-AU 7 92029311 92029311 single base substitution C T 3_prime_UTR_variant MELA-AU 7 92029311 92029311 single base substitution C T downstream_gene_variant MELA-AU 7 92029416 92029416 single base substitution T G 3_prime_UTR_variant MELA-AU 7 92029416 92029416 single base substitution T G downstream_gene_variant MELA-AU 7 92029704 92029704 single base substitution A T 3_prime_UTR_variant MELA-AU 7 92029704 92029704 single base substitution A T downstream_gene_variant MELA-AU 7 92030346 92030346 single base substitution C T 3_prime_UTR_variant MELA-AU 7 92030346 92030346 single base substitution C T downstream_gene_variant MELA-AU 7 92031658 92031658 single base substitution C T downstream_gene_variant MELA-AU 7 92031773 92031773 single base substitution C T downstream_gene_variant MELA-AU 7 92031901 92031901 single base substitution C T downstream_gene_variant MELA-AU 7 92032019 92032019 single base substitution G A downstream_gene_variant MELA-AU 7 92032064 92032064 single base substitution C T downstream_gene_variant MELA-AU 7 92032820 92032820 single base substitution C T downstream_gene_variant MELA-AU 7 92032918 92032918 single base substitution G A downstream_gene_variant MELA-AU 7 92033208 92033208 single base substitution C T downstream_gene_variant MELA-AU 7 92033278 92033278 single base substitution C T downstream_gene_variant MELA-AU 7 92033569 92033569 single base substitution C T downstream_gene_variant MELA-AU 7 92034977 92034977 single base substitution C T downstream_gene_variant MELA-AU 7 92035049 92035049 single base substitution G A downstream_gene_variant MELA-AU 7 92035058 92035058 single base substitution A T downstream_gene_variant MELA-AU 7 92035143 92035143 single base substitution C T downstream_gene_variant MELA-AU 7 92035370 92035370 single base substitution G A downstream_gene_variant MELA-AU 7 92035525 92035525 single base substitution T G downstream_gene_variant MELA-AU 7 92035595 92035595 single base substitution G A downstream_gene_variant ORCA-IN 7 91879667 91879667 single base substitution A G intron_variant ORCA-IN 7 91885257 91885257 single base substitution T G intron_variant ORCA-IN 7 91906181 91906181 single base substitution C G intron_variant ORCA-IN 7 91906697 91906697 single base substitution G T intron_variant ORCA-IN 7 91913531 91913531 single base substitution T G intron_variant ORCA-IN 7 91959371 91959371 single base substitution C T intron_variant ORCA-IN 7 92009236 92009236 single base substitution A G intron_variant ORCA-IN 7 92020515 92020515 single base substitution G T 3_prime_UTR_variant ORCA-IN 7 92020515 92020515 single base substitution G T missense_variant Q696H 2088G>T ORCA-IN 7 92020515 92020515 single base substitution G T upstream_gene_variant ORCA-IN 7 92022533 92022533 single base substitution G A intron_variant ORCA-IN 7 92022533 92022533 single base substitution G A upstream_gene_variant ORCA-IN 7 92027981 92027981 single base substitution T C 3_prime_UTR_variant ORCA-IN 7 92027981 92027981 single base substitution T C downstream_gene_variant ORCA-IN 7 92027981 92027981 single base substitution T C synonymous_variant S996S 2988T>C OV-AU 7 91871262 91871262 single base substitution T C upstream_gene_variant OV-AU 7 91872505 91872505 single base substitution T C upstream_gene_variant OV-AU 7 91877173 91877173 single base substitution A G intron_variant OV-AU 7 91881158 91881158 single base substitution C T intron_variant OV-AU 7 91889000 91889000 single base substitution A G intron_variant OV-AU 7 91893888 91893888 single base substitution C T intron_variant OV-AU 7 91893889 91893889 single base substitution T C intron_variant OV-AU 7 91894607 91894607 single base substitution A T intron_variant OV-AU 7 91896239 91896239 single base substitution A C intron_variant OV-AU 7 91897832 91897832 single base substitution C T intron_variant OV-AU 7 91901785 91901785 single base substitution G A intron_variant OV-AU 7 91908785 91908785 single base substitution T C intron_variant OV-AU 7 91909726 91909726 single base substitution G T intron_variant OV-AU 7 91913353 91913353 single base substitution G T intron_variant OV-AU 7 91916670 91916670 single base substitution T C intron_variant OV-AU 7 91918463 91918463 single base substitution G C intron_variant OV-AU 7 91935335 91935335 single base substitution A C intron_variant OV-AU 7 91935335 91935335 single base substitution A C upstream_gene_variant OV-AU 7 91941306 91941306 single base substitution A G downstream_gene_variant OV-AU 7 91941306 91941306 single base substitution A G intron_variant OV-AU 7 91944127 91944127 single base substitution G C intron_variant OV-AU 7 91944127 91944127 single base substitution G C upstream_gene_variant OV-AU 7 91953493 91953493 single base substitution G T downstream_gene_variant OV-AU 7 91953493 91953493 single base substitution G T intron_variant OV-AU 7 91954029 91954029 single base substitution T C downstream_gene_variant OV-AU 7 91954029 91954029 single base substitution T C intron_variant OV-AU 7 91957030 91957030 single base substitution T C intron_variant OV-AU 7 91958882 91958882 single base substitution A G intron_variant OV-AU 7 91958985 91958985 single base substitution C A intron_variant OV-AU 7 91959882 91959882 single base substitution C T intron_variant OV-AU 7 91960434 91960434 single base substitution C T intron_variant OV-AU 7 91963618 91963618 single base substitution C G intron_variant OV-AU 7 91973541 91973541 single base substitution G A downstream_gene_variant OV-AU 7 91973541 91973541 single base substitution G A intron_variant OV-AU 7 91974715 91974715 single base substitution A G downstream_gene_variant OV-AU 7 91974715 91974715 single base substitution A G intron_variant OV-AU 7 91984641 91984641 single base substitution G C intron_variant OV-AU 7 91985019 91985019 single base substitution C T intron_variant OV-AU 7 92011023 92011023 single base substitution C G intron_variant OV-AU 7 92011057 92011057 single base substitution A T intron_variant OV-AU 7 92016335 92016335 single base substitution A C intron_variant OV-AU 7 92020597 92020597 single base substitution T C 3_prime_UTR_variant OV-AU 7 92020597 92020597 single base substitution T C missense_variant F724L 2170T>C OV-AU 7 92020597 92020597 single base substitution T C upstream_gene_variant OV-AU 7 92034771 92034771 single base substitution A G downstream_gene_variant PACA-AU 7 91875479 91875479 single base substitution G A upstream_gene_variant PACA-AU 7 91876348 91876348 single base substitution C T intron_variant PACA-AU 7 91885800 91885800 single base substitution A G intron_variant PACA-AU 7 91889216 91889216 single base substitution G A intron_variant PACA-AU 7 91894777 91894777 single base substitution T A intron_variant PACA-AU 7 91895885 91895885 single base substitution C T intron_variant PACA-AU 7 91904121 91904121 single base substitution T A intron_variant PACA-AU 7 91905019 91905019 single base substitution C T intron_variant PACA-AU 7 91907001 91907001 single base substitution C T intron_variant PACA-AU 7 91914402 91914402 single base substitution G C intron_variant PACA-AU 7 91914484 91914484 single base substitution C T intron_variant PACA-AU 7 91915541 91915541 single base substitution G A intron_variant PACA-AU 7 91918567 91918567 single base substitution C T intron_variant PACA-AU 7 91919566 91919566 single base substitution G A intron_variant PACA-AU 7 91919566 91919566 single base substitution G A upstream_gene_variant PACA-AU 7 91921185 91921185 single base substitution G A intron_variant PACA-AU 7 91921185 91921185 single base substitution G A upstream_gene_variant PACA-AU 7 91932493 91932493 single base substitution A G intron_variant PACA-AU 7 91932493 91932493 single base substitution A G upstream_gene_variant PACA-AU 7 91934774 91934774 single base substitution A G intron_variant PACA-AU 7 91934774 91934774 single base substitution A G upstream_gene_variant PACA-AU 7 91935318 91935318 single base substitution G A intron_variant PACA-AU 7 91935318 91935318 single base substitution G A upstream_gene_variant PACA-AU 7 91937660 91937660 single base substitution G A downstream_gene_variant PACA-AU 7 91937660 91937660 single base substitution G A intron_variant PACA-AU 7 91942590 91942590 single base substitution G T intron_variant PACA-AU 7 91948810 91948810 single base substitution C T exon_variant PACA-AU 7 91948810 91948810 single base substitution C T missense_variant A218V 653C>T PACA-AU 7 91950264 91950264 single base substitution G A downstream_gene_variant PACA-AU 7 91950264 91950264 single base substitution G A intron_variant PACA-AU 7 91955861 91955861 single base substitution C T intron_variant PACA-AU 7 91960575 91960575 single base substitution A G intron_variant PACA-AU 7 91962907 91962907 single base substitution C T intron_variant PACA-AU 7 91969694 91969694 single base substitution T C intron_variant PACA-AU 7 91969694 91969694 single base substitution T C upstream_gene_variant PACA-AU 7 91971304 91971304 single base substitution T C intron_variant PACA-AU 7 91971304 91971304 single base substitution T C upstream_gene_variant PACA-AU 7 91975403 91975403 single base substitution A C downstream_gene_variant PACA-AU 7 91975403 91975403 single base substitution A C intron_variant PACA-AU 7 91981032 91981032 single base substitution T G intron_variant PACA-AU 7 91985196 91985196 single base substitution A G intron_variant PACA-AU 7 91987026 91987026 single base substitution G C intron_variant PACA-AU 7 91991204 91991204 single base substitution A G intron_variant PACA-AU 7 91992682 91992682 single base substitution G A downstream_gene_variant PACA-AU 7 91992682 91992682 single base substitution G A intron_variant PACA-AU 7 91993104 91993104 single base substitution G A downstream_gene_variant PACA-AU 7 91993104 91993104 single base substitution G A intron_variant PACA-AU 7 91994973 91994973 single base substitution G A downstream_gene_variant PACA-AU 7 91994973 91994973 single base substitution G A intron_variant PACA-AU 7 91995244 91995244 single base substitution G A downstream_gene_variant PACA-AU 7 91995244 91995244 single base substitution G A intron_variant PACA-AU 7 91996967 91996967 deletion of <=200bp T - intron_variant PACA-AU 7 91996967 91996967 deletion of <=200bp T - upstream_gene_variant PACA-AU 7 91999563 91999563 single base substitution C T intron_variant PACA-AU 7 91999563 91999563 single base substitution C T upstream_gene_variant PACA-AU 7 92001497 92001497 single base substitution G T intron_variant PACA-AU 7 92008831 92008831 single base substitution A T intron_variant PACA-AU 7 92014229 92014229 deletion of <=200bp A - intron_variant PACA-AU 7 92029894 92029894 single base substitution G C 3_prime_UTR_variant PACA-AU 7 92029894 92029894 single base substitution G C downstream_gene_variant PACA-AU 7 92032716 92032716 single base substitution G A downstream_gene_variant PACA-CA 7 91873535 91873536 deletion of <=200bp CA - upstream_gene_variant PACA-CA 7 91874096 91874096 single base substitution G T upstream_gene_variant PACA-CA 7 91875834 91875834 insertion of <=200bp - T splice_donor_variant PACA-CA 7 91877752 91877752 single base substitution A G intron_variant PACA-CA 7 91878878 91878878 insertion of <=200bp - A intron_variant PACA-CA 7 91879106 91879106 single base substitution T C intron_variant PACA-CA 7 91888184 91888184 deletion of <=200bp T - intron_variant PACA-CA 7 91891832 91891832 single base substitution G T intron_variant PACA-CA 7 91893709 91893709 single base substitution A T intron_variant PACA-CA 7 91893858 91893858 single base substitution C A intron_variant PACA-CA 7 91899117 91899117 single base substitution A T intron_variant PACA-CA 7 91900821 91900821 single base substitution G C intron_variant PACA-CA 7 91902162 91902162 single base substitution C T intron_variant PACA-CA 7 91902989 91902989 single base substitution G T intron_variant PACA-CA 7 91903725 91903725 single base substitution T G intron_variant PACA-CA 7 91904353 91904353 deletion of <=200bp T - intron_variant PACA-CA 7 91904667 91904667 single base substitution G A intron_variant PACA-CA 7 91906001 91906001 single base substitution C T intron_variant PACA-CA 7 91908776 91908776 single base substitution A G intron_variant PACA-CA 7 91910462 91910462 single base substitution A C intron_variant PACA-CA 7 91911160 91911160 single base substitution A C intron_variant PACA-CA 7 91911920 91911920 single base substitution C T intron_variant PACA-CA 7 91912726 91912726 single base substitution A T intron_variant PACA-CA 7 91919740 91919740 single base substitution G A intron_variant PACA-CA 7 91919740 91919740 single base substitution G A upstream_gene_variant PACA-CA 7 91921527 91921527 single base substitution G A intron_variant PACA-CA 7 91921527 91921527 single base substitution G A upstream_gene_variant PACA-CA 7 91923539 91923539 single base substitution G C intron_variant PACA-CA 7 91923539 91923539 single base substitution G C upstream_gene_variant PACA-CA 7 91936914 91936914 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 91936914 91936914 deletion of <=200bp A - exon_variant PACA-CA 7 91936914 91936914 deletion of <=200bp A - frameshift_variant K144 PACA-CA 7 91939882 91939882 single base substitution A G downstream_gene_variant PACA-CA 7 91939882 91939882 single base substitution A G intron_variant PACA-CA 7 91941040 91941040 single base substitution A C downstream_gene_variant PACA-CA 7 91941040 91941040 single base substitution A C intron_variant PACA-CA 7 91942065 91942065 single base substitution T C intron_variant PACA-CA 7 91943333 91943333 single base substitution C T intron_variant PACA-CA 7 91943953 91943953 single base substitution T C intron_variant PACA-CA 7 91943953 91943953 single base substitution T C upstream_gene_variant PACA-CA 7 91945183 91945183 single base substitution G C intron_variant PACA-CA 7 91945183 91945183 single base substitution G C upstream_gene_variant PACA-CA 7 91946118 91946118 single base substitution G C intron_variant PACA-CA 7 91946118 91946118 single base substitution G C upstream_gene_variant PACA-CA 7 91952277 91952277 single base substitution T G downstream_gene_variant PACA-CA 7 91952277 91952277 single base substitution T G intron_variant PACA-CA 7 91952303 91952303 single base substitution C G downstream_gene_variant PACA-CA 7 91952303 91952303 single base substitution C G intron_variant PACA-CA 7 91956330 91956330 single base substitution A T intron_variant PACA-CA 7 91961110 91961110 deletion of <=200bp A - intron_variant PACA-CA 7 91961721 91961721 single base substitution A G intron_variant PACA-CA 7 91963086 91963086 single base substitution T G intron_variant PACA-CA 7 91965476 91965476 single base substitution A G intron_variant PACA-CA 7 91967769 91967769 single base substitution A G intron_variant PACA-CA 7 91967769 91967769 single base substitution A G upstream_gene_variant PACA-CA 7 91968554 91968554 single base substitution C T intron_variant PACA-CA 7 91968554 91968554 single base substitution C T upstream_gene_variant PACA-CA 7 91970270 91970270 single base substitution C T intron_variant PACA-CA 7 91970270 91970270 single base substitution C T upstream_gene_variant PACA-CA 7 91971048 91971048 single base substitution A G intron_variant PACA-CA 7 91971048 91971048 single base substitution A G upstream_gene_variant PACA-CA 7 91973051 91973051 single base substitution G A downstream_gene_variant PACA-CA 7 91973051 91973051 single base substitution G A intron_variant PACA-CA 7 91978124 91978124 single base substitution G C intron_variant PACA-CA 7 91978384 91978384 single base substitution G A intron_variant PACA-CA 7 91980462 91980462 single base substitution A C intron_variant PACA-CA 7 91984073 91984073 single base substitution G A intron_variant PACA-CA 7 91985199 91985199 single base substitution A G intron_variant PACA-CA 7 91985670 91985670 single base substitution G C intron_variant PACA-CA 7 91986284 91986284 single base substitution A G intron_variant PACA-CA 7 91986931 91986931 single base substitution C T intron_variant PACA-CA 7 91996173 91996173 single base substitution A C downstream_gene_variant PACA-CA 7 91996173 91996173 single base substitution A C intron_variant PACA-CA 7 91996173 91996173 single base substitution A C upstream_gene_variant PACA-CA 7 92000501 92000501 single base substitution T A intron_variant PACA-CA 7 92000501 92000501 single base substitution T A upstream_gene_variant PACA-CA 7 92006085 92006085 single base substitution A T intron_variant PACA-CA 7 92007315 92007315 single base substitution A G intron_variant PACA-CA 7 92008115 92008115 single base substitution C T intron_variant PACA-CA 7 92008367 92008367 single base substitution A C intron_variant PACA-CA 7 92009947 92009947 single base substitution C G intron_variant PACA-CA 7 92010154 92010154 single base substitution G A intron_variant PACA-CA 7 92010838 92010838 single base substitution C T intron_variant PACA-CA 7 92017429 92017429 single base substitution G A intron_variant PACA-CA 7 92018263 92018263 single base substitution T C intron_variant PACA-CA 7 92018637 92018637 single base substitution G T intron_variant PACA-CA 7 92019719 92019719 single base substitution A G intron_variant PACA-CA 7 92023094 92023094 single base substitution G A intron_variant PACA-CA 7 92023094 92023094 single base substitution G A upstream_gene_variant PACA-CA 7 92026209 92026209 single base substitution C T intron_variant PACA-CA 7 92026367 92026367 single base substitution A G intron_variant PACA-CA 7 92028060 92028060 single base substitution A G 3_prime_UTR_variant PACA-CA 7 92028060 92028060 single base substitution A G downstream_gene_variant PACA-CA 7 92028060 92028060 single base substitution A G missense_variant M1023V 3067A>G PACA-CA 7 92035361 92035361 single base substitution C T downstream_gene_variant PAEN-AU 7 91872221 91872221 single base substitution G A upstream_gene_variant PAEN-AU 7 91872278 91872278 single base substitution G A upstream_gene_variant PAEN-AU 7 91872698 91872698 single base substitution C T upstream_gene_variant PAEN-AU 7 91910877 91910877 single base substitution A G intron_variant PAEN-AU 7 91913428 91913428 single base substitution A C intron_variant PAEN-AU 7 92005744 92005744 single base substitution T G intron_variant PAEN-IT 7 91928213 91928213 single base substitution A G intron_variant PAEN-IT 7 91954155 91954155 single base substitution C A downstream_gene_variant PAEN-IT 7 91954155 91954155 single base substitution C A intron_variant PAEN-IT 7 91961169 91961169 single base substitution C G intron_variant PAEN-IT 7 91965892 91965892 single base substitution T A intron_variant PAEN-IT 7 91965925 91965925 single base substitution A T intron_variant PAEN-IT 7 92001971 92001971 single base substitution G T intron_variant PBCA-DE 7 91899615 91899615 single base substitution A C intron_variant PBCA-DE 7 91906027 91906027 single base substitution G A intron_variant PBCA-DE 7 91911466 91911466 insertion of <=200bp - T intron_variant PBCA-DE 7 91919685 91919686 deletion of <=200bp GT - intron_variant PBCA-DE 7 91919685 91919686 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 7 91921689 91921689 deletion of <=200bp T - intron_variant PBCA-DE 7 91921689 91921689 deletion of <=200bp T - upstream_gene_variant PBCA-DE 7 91927372 91927372 single base substitution A C intron_variant PBCA-DE 7 91935339 91935339 single base substitution A C intron_variant PBCA-DE 7 91935339 91935339 single base substitution A C upstream_gene_variant PBCA-DE 7 91956124 91956124 deletion of <=200bp A - intron_variant PBCA-DE 7 91962785 91962785 single base substitution C G intron_variant PBCA-DE 7 91965595 91965595 insertion of <=200bp - T intron_variant PBCA-DE 7 91977286 91977286 single base substitution C G downstream_gene_variant PBCA-DE 7 91977286 91977286 single base substitution C G exon_variant PBCA-DE 7 91977286 91977286 single base substitution C G intron_variant PBCA-DE 7 91981649 91981649 single base substitution C A intron_variant PBCA-DE 7 91995904 91995904 single base substitution T C downstream_gene_variant PBCA-DE 7 91995904 91995904 single base substitution T C intron_variant PBCA-DE 7 91995904 91995904 single base substitution T C upstream_gene_variant PBCA-DE 7 92011383 92011383 insertion of <=200bp - A intron_variant PBCA-DE 7 92028476 92028476 single base substitution C T 3_prime_UTR_variant PBCA-DE 7 92028476 92028476 single base substitution C T downstream_gene_variant PRAD-CA 7 91872413 91872413 single base substitution C T upstream_gene_variant PRAD-CA 7 91887973 91887973 single base substitution A T intron_variant PRAD-CA 7 91891442 91891442 single base substitution A G intron_variant PRAD-CA 7 91899117 91899117 single base substitution A T intron_variant PRAD-CA 7 91915626 91915626 single base substitution C T intron_variant PRAD-CA 7 91942642 91942642 single base substitution A C intron_variant PRAD-CA 7 91950550 91950550 single base substitution C T downstream_gene_variant PRAD-CA 7 91950550 91950550 single base substitution C T intron_variant PRAD-CA 7 91963302 91963302 single base substitution T G intron_variant PRAD-CA 7 91969621 91969621 single base substitution C T intron_variant PRAD-CA 7 91969621 91969621 single base substitution C T upstream_gene_variant PRAD-CA 7 91981035 91981035 single base substitution T G intron_variant PRAD-CA 7 91985196 91985196 single base substitution A G intron_variant PRAD-CA 7 92020523 92020523 single base substitution A G 3_prime_UTR_variant PRAD-CA 7 92020523 92020523 single base substitution A G missense_variant N699S 2096A>G PRAD-CA 7 92020523 92020523 single base substitution A G upstream_gene_variant PRAD-CA 7 92021232 92021232 single base substitution T C intron_variant PRAD-CA 7 92021232 92021232 single base substitution T C upstream_gene_variant PRAD-UK 7 91879260 91879260 insertion of <=200bp - T intron_variant PRAD-UK 7 91889805 91889805 single base substitution C T intron_variant PRAD-UK 7 91900739 91900739 insertion of <=200bp - T intron_variant PRAD-UK 7 91901003 91901003 single base substitution G T intron_variant PRAD-UK 7 91902604 91902604 single base substitution C T intron_variant PRAD-UK 7 91914928 91914928 single base substitution A C intron_variant PRAD-UK 7 91928777 91928777 single base substitution C T intron_variant PRAD-UK 7 91955637 91955637 single base substitution T C intron_variant PRAD-UK 7 91958115 91958115 single base substitution A G intron_variant PRAD-UK 7 91967804 91967804 single base substitution T G intron_variant PRAD-UK 7 91967804 91967804 single base substitution T G upstream_gene_variant PRAD-UK 7 91993729 91993729 insertion of <=200bp - TCCCCTATT downstream_gene_variant PRAD-UK 7 91993729 91993729 insertion of <=200bp - TCCCCTATT intron_variant PRAD-UK 7 91996313 91996313 single base substitution G A downstream_gene_variant PRAD-UK 7 91996313 91996313 single base substitution G A intron_variant PRAD-UK 7 91996313 91996313 single base substitution G A upstream_gene_variant PRAD-UK 7 91997422 91997422 single base substitution A G intron_variant PRAD-UK 7 91997422 91997422 single base substitution A G upstream_gene_variant PRAD-UK 7 92002687 92002687 single base substitution G T intron_variant PRAD-UK 7 92018638 92018638 single base substitution T G intron_variant PRAD-UK 7 92019606 92019606 single base substitution C G intron_variant PRAD-UK 7 92022461 92022461 single base substitution A G intron_variant PRAD-UK 7 92022461 92022461 single base substitution A G upstream_gene_variant PRAD-UK 7 92027190 92027190 single base substitution G C downstream_gene_variant PRAD-UK 7 92027190 92027190 single base substitution G C intron_variant PRAD-UK 7 92028222 92028222 single base substitution C G 3_prime_UTR_variant PRAD-UK 7 92028222 92028222 single base substitution C G downstream_gene_variant PRAD-UK 7 92028222 92028222 single base substitution C G missense_variant Q1077E 3229C>G PRAD-UK 7 92032338 92032338 single base substitution C G downstream_gene_variant PRAD-US 7 92020490 92020490 single base substitution A G 3_prime_UTR_variant PRAD-US 7 92020490 92020490 single base substitution A G missense_variant E688G 2063A>G PRAD-US 7 92020490 92020490 single base substitution A G upstream_gene_variant RECA-EU 7 91877927 91877927 single base substitution C T intron_variant RECA-EU 7 91883265 91883265 single base substitution T A intron_variant RECA-EU 7 91883638 91883638 single base substitution G C intron_variant RECA-EU 7 91885676 91885676 single base substitution A T intron_variant RECA-EU 7 91912705 91912705 single base substitution G A intron_variant RECA-EU 7 91915655 91915655 single base substitution C G intron_variant RECA-EU 7 91929287 91929287 single base substitution T A intron_variant RECA-EU 7 91933375 91933375 single base substitution T C intron_variant RECA-EU 7 91933375 91933375 single base substitution T C upstream_gene_variant RECA-EU 7 91935014 91935014 single base substitution G A intron_variant RECA-EU 7 91935014 91935014 single base substitution G A upstream_gene_variant RECA-EU 7 91936359 91936359 single base substitution T C intron_variant RECA-EU 7 91936359 91936359 single base substitution T C upstream_gene_variant RECA-EU 7 91943827 91943827 single base substitution C A intron_variant RECA-EU 7 91943827 91943827 single base substitution C A upstream_gene_variant RECA-EU 7 91960534 91960534 single base substitution C T intron_variant RECA-EU 7 91964145 91964145 single base substitution G T intron_variant RECA-EU 7 91971075 91971075 single base substitution C G intron_variant RECA-EU 7 91971075 91971075 single base substitution C G upstream_gene_variant RECA-EU 7 91973364 91973364 single base substitution A T downstream_gene_variant RECA-EU 7 91973364 91973364 single base substitution A T intron_variant RECA-EU 7 91984275 91984275 single base substitution C A intron_variant RECA-EU 7 91984736 91984736 single base substitution T A intron_variant RECA-EU 7 91986428 91986428 single base substitution A T intron_variant RECA-EU 7 91989754 91989754 single base substitution G T intron_variant RECA-EU 7 91989756 91989756 single base substitution G C intron_variant RECA-EU 7 91989783 91989783 single base substitution G T intron_variant RECA-EU 7 91992773 91992773 single base substitution A C downstream_gene_variant RECA-EU 7 91992773 91992773 single base substitution A C intron_variant RECA-EU 7 92005725 92005725 single base substitution C T intron_variant RECA-EU 7 92010436 92010436 single base substitution A T intron_variant RECA-EU 7 92015224 92015224 single base substitution T A intron_variant RECA-EU 7 92024668 92024668 single base substitution A G intron_variant RECA-EU 7 92024668 92024668 single base substitution A G upstream_gene_variant SKCA-BR 7 91870762 91870762 single base substitution A C upstream_gene_variant SKCA-BR 7 91872990 91872990 single base substitution G A upstream_gene_variant SKCA-BR 7 91873504 91873504 single base substitution C T upstream_gene_variant SKCA-BR 7 91875433 91875433 single base substitution A G upstream_gene_variant SKCA-BR 7 91877832 91877832 single base substitution G A intron_variant SKCA-BR 7 91879376 91879376 single base substitution C T intron_variant SKCA-BR 7 91881944 91881944 single base substitution G A intron_variant SKCA-BR 7 91883064 91883064 single base substitution G T intron_variant SKCA-BR 7 91884710 91884710 single base substitution T C intron_variant SKCA-BR 7 91885692 91885692 single base substitution G A intron_variant SKCA-BR 7 91885828 91885828 single base substitution C T intron_variant SKCA-BR 7 91885829 91885829 single base substitution C T intron_variant SKCA-BR 7 91894156 91894156 single base substitution C T intron_variant SKCA-BR 7 91895799 91895799 single base substitution C T intron_variant SKCA-BR 7 91896300 91896300 single base substitution G A intron_variant SKCA-BR 7 91899975 91899975 single base substitution C T intron_variant SKCA-BR 7 91904928 91904928 single base substitution G C intron_variant SKCA-BR 7 91908620 91908620 single base substitution C T intron_variant SKCA-BR 7 91909783 91909783 single base substitution C T intron_variant SKCA-BR 7 91914018 91914018 single base substitution C T intron_variant SKCA-BR 7 91914514 91914514 single base substitution A G intron_variant SKCA-BR 7 91919388 91919388 single base substitution C T intron_variant SKCA-BR 7 91919388 91919388 single base substitution C T upstream_gene_variant SKCA-BR 7 91922534 91922534 single base substitution T A intron_variant SKCA-BR 7 91922534 91922534 single base substitution T A upstream_gene_variant SKCA-BR 7 91928103 91928103 single base substitution G A intron_variant SKCA-BR 7 91930178 91930178 single base substitution C T intron_variant SKCA-BR 7 91930513 91930513 single base substitution A T intron_variant SKCA-BR 7 91930834 91930834 single base substitution C T intron_variant SKCA-BR 7 91935280 91935280 single base substitution T C intron_variant SKCA-BR 7 91935280 91935280 single base substitution T C upstream_gene_variant SKCA-BR 7 91958714 91958714 single base substitution G A intron_variant SKCA-BR 7 91960199 91960199 single base substitution C T intron_variant SKCA-BR 7 91963807 91963807 single base substitution C T intron_variant SKCA-BR 7 91966198 91966198 single base substitution C T intron_variant SKCA-BR 7 91966323 91966323 single base substitution C T intron_variant SKCA-BR 7 91967418 91967418 single base substitution G A intron_variant SKCA-BR 7 91968240 91968249 deletion of <=200bp AAAAAAAAAT - intron_variant SKCA-BR 7 91968240 91968249 deletion of <=200bp AAAAAAAAAT - upstream_gene_variant SKCA-BR 7 91968241 91968251 deletion of <=200bp AAAAAAAATAT - intron_variant SKCA-BR 7 91968241 91968251 deletion of <=200bp AAAAAAAATAT - upstream_gene_variant SKCA-BR 7 91968629 91968629 single base substitution T C intron_variant SKCA-BR 7 91968629 91968629 single base substitution T C upstream_gene_variant SKCA-BR 7 91972688 91972688 single base substitution C T downstream_gene_variant SKCA-BR 7 91972688 91972688 single base substitution C T intron_variant SKCA-BR 7 91974579 91974579 single base substitution T G downstream_gene_variant SKCA-BR 7 91974579 91974579 single base substitution T G intron_variant SKCA-BR 7 91977699 91977699 insertion of <=200bp - CT intron_variant SKCA-BR 7 91979330 91979330 insertion of <=200bp - AAAAG intron_variant SKCA-BR 7 91980103 91980103 single base substitution T G intron_variant SKCA-BR 7 91980895 91980895 single base substitution C T intron_variant SKCA-BR 7 91981754 91981754 single base substitution A T intron_variant SKCA-BR 7 91982698 91982698 single base substitution T C intron_variant SKCA-BR 7 91983672 91983672 single base substitution T G intron_variant SKCA-BR 7 91986928 91986928 single base substitution T A intron_variant SKCA-BR 7 91990983 91990983 single base substitution A T intron_variant SKCA-BR 7 91992513 91992513 single base substitution T G downstream_gene_variant SKCA-BR 7 91992513 91992513 single base substitution T G intron_variant SKCA-BR 7 91992722 91992722 single base substitution T A downstream_gene_variant SKCA-BR 7 91992722 91992722 single base substitution T A intron_variant SKCA-BR 7 91995541 91995541 single base substitution C T downstream_gene_variant SKCA-BR 7 91995541 91995541 single base substitution C T intron_variant SKCA-BR 7 91998495 91998495 single base substitution C A intron_variant SKCA-BR 7 91998495 91998495 single base substitution C A upstream_gene_variant SKCA-BR 7 91998648 91998648 single base substitution A T intron_variant SKCA-BR 7 91998648 91998648 single base substitution A T upstream_gene_variant SKCA-BR 7 91999802 91999802 single base substitution A G intron_variant SKCA-BR 7 91999802 91999802 single base substitution A G upstream_gene_variant SKCA-BR 7 92000403 92000403 single base substitution C T intron_variant SKCA-BR 7 92000403 92000403 single base substitution C T upstream_gene_variant SKCA-BR 7 92003675 92003675 single base substitution C T intron_variant SKCA-BR 7 92003676 92003676 single base substitution C T intron_variant SKCA-BR 7 92004134 92004134 single base substitution C T intron_variant SKCA-BR 7 92005072 92005072 single base substitution C T intron_variant SKCA-BR 7 92010939 92010939 single base substitution C T intron_variant SKCA-BR 7 92011248 92011248 single base substitution G C intron_variant SKCA-BR 7 92011382 92011382 insertion of <=200bp - CA intron_variant SKCA-BR 7 92013543 92013544 deletion of <=200bp TA - intron_variant SKCA-BR 7 92016115 92016118 deletion of <=200bp GAGC - intron_variant SKCA-BR 7 92018097 92018097 single base substitution C T intron_variant SKCA-BR 7 92019503 92019503 single base substitution C T intron_variant SKCA-BR 7 92024358 92024358 single base substitution C T intron_variant SKCA-BR 7 92024358 92024358 single base substitution C T upstream_gene_variant SKCA-BR 7 92026683 92026683 single base substitution C T intron_variant SKCA-BR 7 92027187 92027187 single base substitution A G downstream_gene_variant SKCA-BR 7 92027187 92027187 single base substitution A G intron_variant SKCA-BR 7 92027565 92027565 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 92027565 92027565 single base substitution C T downstream_gene_variant SKCA-BR 7 92027565 92027565 single base substitution C T missense_variant L858F 2572C>T SKCA-BR 7 92029911 92029911 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 92029911 92029911 single base substitution C T downstream_gene_variant SKCA-BR 7 92032549 92032549 single base substitution C T downstream_gene_variant SKCM-US 7 91924316 91924316 single base substitution C T synonymous_variant F8F 24C>T SKCM-US 7 91936786 91936786 single base substitution C T exon_variant SKCM-US 7 91936786 91936786 single base substitution C T missense_variant P101L 302C>T SKCM-US 7 91936884 91936884 single base substitution G T exon_variant SKCM-US 7 91936884 91936884 single base substitution G T stop_gained E134* 400G>T SKCM-US 7 91972374 91972374 single base substitution C T 3_prime_UTR_variant SKCM-US 7 91972374 91972374 single base substitution C T missense_variant S275F 824C>T SKCM-US 7 91972374 91972374 single base substitution C T upstream_gene_variant SKCM-US 7 92027138 92027138 single base substitution C T 3_prime_UTR_variant SKCM-US 7 92027138 92027138 single base substitution C T exon_variant SKCM-US 7 92027138 92027138 single base substitution C T missense_variant P833S 2497C>T SKCM-US 7 92027171 92027171 single base substitution C T downstream_gene_variant SKCM-US 7 92027171 92027171 single base substitution C T splice_region_variant SKCM-US 7 92027171 92027171 single base substitution C T stop_gained Q844* 2530C>T SKCM-US 7 92027859 92027859 single base substitution C T 3_prime_UTR_variant SKCM-US 7 92027859 92027859 single base substitution C T downstream_gene_variant SKCM-US 7 92027859 92027859 single base substitution C T missense_variant P956S 2866C>T SKCM-US 7 92027925 92027925 single base substitution C T 3_prime_UTR_variant SKCM-US 7 92027925 92027925 single base substitution C T downstream_gene_variant SKCM-US 7 92027925 92027925 single base substitution C T missense_variant H978Y 2932C>T SKCM-US 7 92027937 92027937 single base substitution C T 3_prime_UTR_variant SKCM-US 7 92027937 92027937 single base substitution C T downstream_gene_variant SKCM-US 7 92027937 92027937 single base substitution C T missense_variant P982S 2944C>T SKCM-US 7 92027958 92027958 single base substitution C T 3_prime_UTR_variant SKCM-US 7 92027958 92027958 single base substitution C T downstream_gene_variant SKCM-US 7 92027958 92027958 single base substitution C T missense_variant P989S 2965C>T STAD-US 7 91871404 91871404 single base substitution G A upstream_gene_variant STAD-US 7 91936795 91936795 single base substitution C T exon_variant STAD-US 7 91936795 91936795 single base substitution C T missense_variant A104V 311C>T STAD-US 7 91972386 91972386 single base substitution A G 3_prime_UTR_variant STAD-US 7 91972386 91972386 single base substitution A G missense_variant N279S 836A>G STAD-US 7 91972386 91972386 single base substitution A G upstream_gene_variant STAD-US 7 91972459 91972459 single base substitution A T downstream_gene_variant STAD-US 7 91972459 91972459 single base substitution A T exon_variant STAD-US 7 91972459 91972459 single base substitution A T synonymous_variant P303P 909A>T STAD-US 7 92020590 92020590 single base substitution G A 3_prime_UTR_variant STAD-US 7 92020590 92020590 single base substitution G A synonymous_variant R721R 2163G>A STAD-US 7 92020590 92020590 single base substitution G A upstream_gene_variant STAD-US 7 92021605 92021605 single base substitution A G intron_variant STAD-US 7 92021605 92021605 single base substitution A G missense_variant E761G 2282A>G STAD-US 7 92021605 92021605 single base substitution A G upstream_gene_variant STAD-US 7 92027051 92027051 single base substitution G A 3_prime_UTR_variant STAD-US 7 92027051 92027051 single base substitution G A exon_variant STAD-US 7 92027051 92027051 single base substitution G A missense_variant G804S 2410G>A STAD-US 7 92027163 92027163 single base substitution A G 3_prime_UTR_variant STAD-US 7 92027163 92027163 single base substitution A G downstream_gene_variant STAD-US 7 92027163 92027163 single base substitution A G missense_variant D841G 2522A>G STAD-US 7 92027653 92027653 single base substitution C T 3_prime_UTR_variant STAD-US 7 92027653 92027653 single base substitution C T downstream_gene_variant STAD-US 7 92027653 92027653 single base substitution C T missense_variant A887V 2660C>T STAD-US 7 92027890 92027890 single base substitution A G 3_prime_UTR_variant STAD-US 7 92027890 92027890 single base substitution A G downstream_gene_variant STAD-US 7 92027890 92027890 single base substitution A G missense_variant N966S 2897A>G STAD-US 7 92027979 92027979 single base substitution A G 3_prime_UTR_variant STAD-US 7 92027979 92027979 single base substitution A G downstream_gene_variant STAD-US 7 92027979 92027979 single base substitution A G missense_variant S996G 2986A>G STAD-US 7 92028112 92028112 single base substitution A C 3_prime_UTR_variant STAD-US 7 92028112 92028112 single base substitution A C downstream_gene_variant STAD-US 7 92028112 92028112 single base substitution A C missense_variant N1040T 3119A>C THCA-SA 7 91874860 91874860 single base substitution G A upstream_gene_variant UCEC-US 7 91924317 91924317 single base substitution C T missense_variant R9C 25C>T UCEC-US 7 91924463 91924463 single base substitution A G synonymous_variant G57G 171A>G UCEC-US 7 91936716 91936716 single base substitution C T exon_variant UCEC-US 7 91936716 91936716 single base substitution C T missense_variant H78Y 232C>T UCEC-US 7 91957139 91957139 single base substitution G T 3_prime_UTR_variant UCEC-US 7 91957139 91957139 single base substitution G T missense_variant D238Y 712G>T UCEC-US 7 91972427 91972427 single base substitution C T 3_prime_UTR_variant UCEC-US 7 91972427 91972427 single base substitution C T missense_variant P293S 877C>T UCEC-US 7 91972427 91972427 single base substitution C T upstream_gene_variant UCEC-US 7 91972444 91972444 single base substitution C G downstream_gene_variant UCEC-US 7 91972444 91972444 single base substitution C G synonymous_variant A298A 894C>G UCEC-US 7 91972444 91972444 single base substitution C G upstream_gene_variant UCEC-US 7 91980369 91980369 single base substitution A G 3_prime_UTR_variant UCEC-US 7 91980369 91980369 single base substitution A G synonymous_variant S397S 1191A>G UCEC-US 7 92000822 92000822 single base substitution C T synonymous_variant A506A 1518C>T UCEC-US 7 92000822 92000822 single base substitution C T upstream_gene_variant UCEC-US 7 92015852 92015852 single base substitution T C exon_variant UCEC-US 7 92015852 92015852 single base substitution T C synonymous_variant L549L 1647T>C UCEC-US 7 92015915 92015915 single base substitution C T exon_variant UCEC-US 7 92015915 92015915 single base substitution C T synonymous_variant V570V 1710C>T UCEC-US 7 92027051 92027051 single base substitution G A 3_prime_UTR_variant UCEC-US 7 92027051 92027051 single base substitution G A exon_variant UCEC-US 7 92027051 92027051 single base substitution G A missense_variant G804S 2410G>A UCEC-US 7 92027598 92027598 single base substitution C A 3_prime_UTR_variant UCEC-US 7 92027598 92027598 single base substitution C A downstream_gene_variant UCEC-US 7 92027598 92027598 single base substitution C A missense_variant L869M 2605C>A UCEC-US 7 92027712 92027712 single base substitution C T 3_prime_UTR_variant UCEC-US 7 92027712 92027712 single base substitution C T downstream_gene_variant UCEC-US 7 92027712 92027712 single base substitution C T missense_variant R907W 2719C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P27-Tumor-Biopsy COSM5358332 c.1155A>G p.Q385Q Substitution - coding silent 7:92351019-92351019 + CN-AML-17-T COSM5427633 c.581C>T p.A194V Substitution - Missense 7:92319424-92319424 + TCGA-IR-A3LI-01 COSM4846223 c.424G>A p.D142N Substitution - Missense 7:92307594-92307594 + 10-P4110 COSM223180 c.2306G>A p.R769Q Substitution - Missense 7:92396387-92396387 + TCGA-CD-A4MG-01 COSM3883363 c.2986A>G p.S996G Substitution - Missense 7:92398665-92398665 + pfg122T COSM4758783 c.161C>T p.A54V Substitution - Missense 7:92295139-92295139 + I2L-P7-Tumor-Organoid COSM5358373 c.1040T>C p.V347A Substitution - Missense 7:92345021-92345021 + CSCC-10-T COSM4569020 c.1454T>G p.L485R Substitution - Missense 7:92362241-92362241 + TCGA-AM-5820-01 COSM3762897 c.2544C>G p.S848S Substitution - coding silent 7:92398223-92398223 + TCGA-AA-A01X-01 COSM287332 c.1630_1631delTT p.F544fs*6 Deletion - Frameshift 7:92386521-92386522 + ESCC-F4 COSM5047674 c.2172C>G p.F724L Substitution - Missense 7:92391285-92391285 + 2521249 COSM5887966 c.189-8C>T p.? Unknown 7:92307351-92307351 + TCGA-EK-A2RD-01 COSM4820216 c.385G>C p.D129H Substitution - Missense 7:92307555-92307555 + TCGA-A3-3376-01 COSM485729 c.2919C>A p.I973I Substitution - coding silent 7:92398598-92398598 + PCA78-1 COSM5415418 c.1766A>T p.H589L Substitution - Missense 7:92387811-92387811 + CHC1746T COSM4787951 c.2395G>T p.D799Y Substitution - Missense 7:92396476-92396476 + BN34 COSM1623302 c.916A>G p.R306G Substitution - Missense 7:92343152-92343152 + 17T COSM3715793 c.2988T>C p.S996S Substitution - coding silent 7:92398667-92398667 + HCC135T COSM3663400 c.3222A>G p.Q1074Q Substitution - coding silent 7:92398901-92398901 + BD235T COSM5501615 c.1105C>G p.Q369E Substitution - Missense 7:92350969-92350969 + HCC97T COSM1623303 c.1045_1046insT p.M349fs*6 Insertion - Frameshift 7:92345026-92345027 + sysucc-783T COSM5484942 c.904C>T p.L302F Substitution - Missense 7:92343140-92343140 + 587342 COSM1182819 c.2141C>T p.A714V Substitution - Missense 7:92391254-92391254 + CSCC-31-T COSM4479801 c.2360C>T p.P787L Substitution - Missense 7:92396441-92396441 + Pat_63_B COSM5873365 c.1384C>T p.H462Y Substitution - Missense 7:92352629-92352629 + TCGA-AD-6889-01 COSM1452826 c.613C>T p.R205W Substitution - Missense 7:92319456-92319456 + CSCC-31-T COSM4510928 c.851C>T p.S284L Substitution - Missense 7:92343087-92343087 + TCGA-HQ-A2OE-01 COSM1313415 c.1262G>A p.W421* Substitution - Nonsense 7:92352507-92352507 + ESCC_BICR_040T COSM4934854 c.424G>C p.D142H Substitution - Missense 7:92307594-92307594 + RK015_C COSM1635482 c.2396A>G p.D799G Substitution - Missense 7:92397723-92397723 + TCGA-BR-6452-01 COSM3883359 c.2163G>A p.R721R Substitution - coding silent 7:92391276-92391276 + TCGA-GV-A3JX-01 COSM1313414 c.799G>C p.E267Q Substitution - Missense 7:92343035-92343035 + TCGA-AD-6889-01 COSM266002 c.430delA p.N146fs*12 Deletion - Frameshift 7:92307600-92307600 + TCGA-BR-A4QL-01 COSM3883356 c.311C>T p.A104V Substitution - Missense 7:92307481-92307481 + TCGA-37-3783-01 COSM747560 c.338G>C p.R113T Substitution - Missense 7:92307508-92307508 + BK0030 COSM4186839 c.1885T>G p.L629V Substitution - Missense 7:92388020-92388020 + TCGA-FW-A3R5-06 COSM3924216 c.2497C>T p.P833S Substitution - Missense 7:92397824-92397824 + 587342 COSM1182818 c.871C>T p.P291S Substitution - Missense 7:92343107-92343107 + TCGA-EE-A2MD-06 COSM3642253 c.24C>T p.F8F Substitution - coding silent 7:92295002-92295002 + CHEWS027 COSM1093042 c.2413A>G p.S805G Substitution - Missense 7:92397740-92397740 + TCGA-41-3915-01 COSM3412472 c.1419T>A p.H473Q Substitution - Missense 7:92362206-92362206 + RMS80_ COSM4988527 c.665G>A p.R222Q Substitution - Missense 7:92319508-92319508 + TCGA-AG-A00Y-01 COSM5072590 c.2593C>T p.Q865* Substitution - Nonsense 7:92398272-92398272 + LUAD_E00522 COSM353555 c.357G>A p.M119I Substitution - Missense 7:92307527-92307527 + B59-1-Tumor COSM3762898 c.3046C>A p.L1016M Substitution - Missense 7:92398725-92398725 + TCGA-AA-3672-01 COSM266002 c.430delA p.N146fs*12 Deletion - Frameshift 7:92307600-92307600 + TCGA-HC-7230-01 COSM1472030 c.2063A>G p.E688G Substitution - Missense 7:92391176-92391176 + TCGA-DB-A4XG-01 COSM3929255 c.1338C>T p.L446L Substitution - coding silent 7:92352583-92352583 + I2L-P19Ta-Tumor-Organoid COSM266002 c.430delA p.N146fs*12 Deletion - Frameshift 7:92307600-92307600 + TCGA-02-0055 COSM2149043 c.2416_2417delAG p.S806fs*24 Deletion - Frameshift 7:92397743-92397744 + TCGA-BR-8487-01 COSM3883357 c.836A>G p.N279S Substitution - Missense 7:92343072-92343072 + TCGA-BR-6452-01 COSM3883362 c.2897A>G p.N966S Substitution - Missense 7:92398576-92398576 + 174T COSM1726031 c.1429G>T p.D477Y Substitution - Missense 7:92362216-92362216 + Gp5D COSM2864105 c.624G>C p.E208D Substitution - Missense 7:92319467-92319467 + 49M COSM4969263 c.3148G>A p.E1050K Substitution - Missense 7:92398827-92398827 + TCGA-AG-A002-01 COSM259425 c.306C>A p.R102R Substitution - coding silent 7:92307476-92307476 + CSCC-29-T COSM4486962 c.3121C>T p.P1041S Substitution - Missense 7:92398800-92398800 + sysucc-311T COSM5467255 c.743T>G p.L248R Substitution - Missense 7:92327856-92327856 + PD18017a COSM5773765 c.514T>A p.F172I Substitution - Missense 7:92319357-92319357 + HCC135 COSM3663400 c.3222A>G p.Q1074Q Substitution - coding silent 7:92398901-92398901 + TCGA-AA-3672-01 COSM266001 c.1879G>A p.E627K Substitution - Missense 7:92388014-92388014 + sysucc-1163T COSM5459326 c.2231+8G>T p.? Unknown 7:92391352-92391352 + XHDG17 COSM4768665 c.2972C>T p.A991V Substitution - Missense 7:92398651-92398651 + TCGA-EE-A182-06 COSM3642255 c.824C>T p.S275F Substitution - Missense 7:92343060-92343060 + TCGA-D1-A160-01 COSM1093035 c.877C>T p.P293S Substitution - Missense 7:92343113-92343113 + 2334195 COSM318686 c.622G>T p.E208* Substitution - Nonsense 7:92319465-92319465 + TCGA-G2-A2ES-01 COSM1313417 c.1325G>T p.G442V Substitution - Missense 7:92352570-92352570 + TCGA-66-2727-01 COSM747559 c.997-1G>A p.? Unknown 7:92344977-92344977 + TCGA-21-1071-01 COSM747555 c.2423G>T p.R808L Substitution - Missense 7:92397750-92397750 + BN34T COSM1623302 c.916A>G p.R306G Substitution - Missense 7:92343152-92343152 + TCGA-G2-A2ES-01 COSM1313418 c.2746T>G p.L916V Substitution - Missense 7:92398425-92398425 + TCGA-GF-A6C9-06 COSM4902907 c.2965C>T p.P989S Substitution - Missense 7:92398644-92398644 + HCT116 COSM4632442 c.2423G>A p.R808H Substitution - Missense 7:92397750-92397750 + HCC058T COSM5805097 c.407C>T p.A136V Substitution - Missense 7:92307577-92307577 + PD23560a COSM5800637 c.2895C>T p.I965I Substitution - coding silent 7:92398574-92398574 + TCGA-A5-A0GA-01 COSM1093041 c.2410G>A p.G804S Substitution - Missense 7:92397737-92397737 + 68 COSM5744214 c.305G>T p.R102L Substitution - Missense 7:92307475-92307475 + ccRCC-99 COSM1665347 c.68delT p.I23fs*8 Deletion - Frameshift 7:92295046-92295046 + ESO-165 COSM1244988 c.1714C>G p.Q572E Substitution - Missense 7:92386605-92386605 + TCGA-BQ-5884-01 COSM3995743 c.1992T>C p.Y664Y Substitution - coding silent 7:92390056-92390056 + PDA_004 COSM3762898 c.3046C>A p.L1016M Substitution - Missense 7:92398725-92398725 + TCGA-DM-A28G-01 COSM1452829 c.1972C>T p.R658C Substitution - Missense 7:92390036-92390036 + TCGA-AC-A23H-01 COSM3833481 c.1473G>A p.M491I Substitution - Missense 7:92362260-92362260 + TCGA-AP-A051-01 COSM1093043 c.2605C>A p.L869M Substitution - Missense 7:92398284-92398284 + KYSE-140 COSM602800 c.1648G>A p.E550K Substitution - Missense 7:92386539-92386539 + TCGA-F1-6874-01 COSM2864145 c.2660C>T p.A887V Substitution - Missense 7:92398339-92398339 + Au5 COSM5605526 c.689C>T p.P230L Substitution - Missense 7:92327802-92327802 + LUAD-E01278 COSM394349 c.2364A>T p.P788P Substitution - coding silent 7:92396445-92396445 + LUAD_E00623 COSM354614 c.1696A>T p.T566S Substitution - Missense 7:92386587-92386587 + TCGA-BS-A0U7-01 COSM1093044 c.2719C>T p.R907W Substitution - Missense 7:92398398-92398398 + TCGA-EE-A3AE-06 COSM3642256 c.2530C>T p.Q844* Substitution - Nonsense 7:92397857-92397857 + SNUH_G16_S1 COSM3685253 c.2184G>A p.V728V Substitution - coding silent 7:92391297-92391297 + CSCC-27-T COSM4508683 c.784C>T p.H262Y Substitution - Missense 7:92327897-92327897 + TCGA-CA-6717-01 COSM1452828 c.1670C>T p.S557L Substitution - Missense 7:92386561-92386561 + TCGA-HU-8602-01 COSM3883360 c.2282A>G p.E761G Substitution - Missense 7:92392291-92392291 + 14T COSM3715792 c.2088G>T p.Q696H Substitution - Missense 7:92391201-92391201 + TCGA-66-2791-01 COSM747552 c.2811G>A p.L937L Substitution - coding silent 7:92398490-92398490 + 8016470 COSM3394938 c.653C>T p.A218V Substitution - Missense 7:92319496-92319496 + RK015_C01 COSM1635482 c.2396A>G p.D799G Substitution - Missense 7:92397723-92397723 + PD11748a COSM5797571 c.113C>A p.T38K Substitution - Missense 7:92295091-92295091 + TCGA-AA-A00N-01 COSM273975 c.2110C>T p.R704C Substitution - Missense 7:92391223-92391223 + S01512 COSM5668876 c.3129A>G p.E1043E Substitution - coding silent 7:92398808-92398808 + TCGA-70-6722-01 COSM747556 c.1995A>T p.P665P Substitution - coding silent 7:92390059-92390059 + TCGA-EE-A2GJ-06 COSM2864096 c.302C>T p.P101L Substitution - Missense 7:92307472-92307472 + CN-AML-NR-17-Dx COSM5427633 c.581C>T p.A194V Substitution - Missense 7:92319424-92319424 + TCGA-D8-A1JA-01 COSM3833482 c.1879G>C p.E627Q Substitution - Missense 7:92388014-92388014 + YUOTHO COSM5408260 c.2887C>T p.P963S Substitution - Missense 7:92398566-92398566 + CR007 COSM3762898 c.3046C>A p.L1016M Substitution - Missense 7:92398725-92398725 + TCGA-D9-A6EA-06 COSM4398321 c.2932C>T p.H978Y Substitution - Missense 7:92398611-92398611 + TCGA-DK-A3IN-01 COSM3778685 c.2689G>C p.D897H Substitution - Missense 7:92398368-92398368 + TCGA-66-2758-01 COSM747557 c.1526G>T p.C509F Substitution - Missense 7:92371516-92371516 + S01022 COSM5666170 c.1970G>T p.R657L Substitution - Missense 7:92390034-92390034 + TCGA-AP-A0LM-01 COSM1093038 c.1518C>T p.A506A Substitution - coding silent 7:92371508-92371508 + TCGA-CZ-5470-01 COSM485728 c.1213C>A p.L405I Substitution - Missense 7:92351077-92351077 + HCC158T COSM3663399 c.1954G>A p.V652M Substitution - Missense 7:92390018-92390018 + TCGA-FW-A3R5-06 COSM3924217 c.2866C>T p.P956S Substitution - Missense 7:92398545-92398545 + 17_FL COSM1283409 c.3143C>T p.A1048V Substitution - Missense 7:92398822-92398822 + 2492729 COSM5727277 c.2548G>A p.D850N Substitution - Missense 7:92398227-92398227 + OSCC-GB_00140111 COSM3715792 c.2088G>T p.Q696H Substitution - Missense 7:92391201-92391201 + LUAD-NYU627 COSM375465 c.2228G>T p.R743L Substitution - Missense 7:92391341-92391341 + ESO-717 COSM1093044 c.2719C>T p.R907W Substitution - Missense 7:92398398-92398398 + CN-AML-NR-08-Dx COSM5425893 c.1952A>G p.H651R Substitution - Missense 7:92390016-92390016 + PT53 COSM5941284 c.3158C>T p.S1053F Substitution - Missense 7:92398837-92398837 + 587342 COSM1182820 c.2204C>T p.A735V Substitution - Missense 7:92391317-92391317 + Pat_05_A COSM1452826 c.613C>T p.R205W Substitution - Missense 7:92319456-92319456 + CHC1746T COSM4787951 c.2395G>T p.D799Y Substitution - Missense 7:92396476-92396476 + TCGA-EE-A3AA-06 COSM3642254 c.400G>T p.E134* Substitution - Nonsense 7:92307570-92307570 + TCGA-D1-A17Q-01 COSM1093034 c.712G>T p.D238Y Substitution - Missense 7:92327825-92327825 + I2L-P9-Tumor-Biopsy COSM5358547 c.286G>A p.E96K Substitution - Missense 7:92307456-92307456 + Gp5D COSM2864114 c.1216C>T p.Q406* Substitution - Nonsense 7:92351080-92351080 + KYSE-180 COSM2864153 c.3109delA p.I1037fs*1 Deletion - Frameshift 7:92398788-92398788 + TCGA-BG-A18B-01 COSM1093032 c.232C>T p.H78Y Substitution - Missense 7:92307402-92307402 + STC263 COSM5062669 c.3243C>A p.D1081E Substitution - Missense 7:92398922-92398922 + 49M COSM5589654 c.1047G>T p.M349I Substitution - Missense 7:92345028-92345028 + TCGA-34-5929-01 COSM747553 c.2586A>G p.L862L Substitution - coding silent 7:92398265-92398265 + CHC2206T COSM4956996 c.1941A>C p.E647D Substitution - Missense 7:92390005-92390005 + TCGA-A5-A0GA-01 COSM1093039 c.1647T>C p.L549L Substitution - coding silent 7:92386538-92386538 + sysucc-936T COSM5453660 c.2227C>T p.R743C Substitution - Missense 7:92391340-92391340 + LP6007409-DNA_A01 COSM5953410 c.1703A>G p.Y568C Substitution - Missense 7:92386594-92386594 + OSCC-GB_00170111 COSM3715793 c.2988T>C p.S996S Substitution - coding silent 7:92398667-92398667 + TCGA-39-5030-01 COSM747558 c.1144G>C p.D382H Substitution - Missense 7:92351008-92351008 + ESCC-D1 COSM5045148 c.3197G>C p.G1066A Substitution - Missense 7:92398876-92398876 + sysucc-1317T COSM5450405 c.873A>C p.P291P Substitution - coding silent 7:92343109-92343109 + TCGA-DD-A4NV-01 COSM4916329 c.2856A>G p.S952S Substitution - coding silent 7:92398535-92398535 + TCGA-D7-6526-01 COSM3883358 c.909A>T p.P303P Substitution - coding silent 7:92343145-92343145 + TCGA-D1-A17U-01 COSM1093042 c.2413A>G p.S805G Substitution - Missense 7:92397740-92397740 + TCGA-BS-A0WQ-01 COSM1093036 c.894C>G p.A298A Substitution - coding silent 7:92343130-92343130 + STC263 COSM5062668 c.2T>C p.M1T Substitution - Missense 7:92294980-92294980 + LC_S39 COSM1187356 c.603G>A p.M201I Substitution - Missense 7:92319446-92319446 + TCGA-BS-A0TA-01 COSM1093033 c.480T>C p.C160C Substitution - coding silent 7:92307650-92307650 + TCGA-D1-A15X-01 COSM1093040 c.1710C>T p.V570V Substitution - coding silent 7:92386601-92386601 + Gp2D COSM2864114 c.1216C>T p.Q406* Substitution - Nonsense 7:92351080-92351080 + LUAD-QY22Z COSM394842 c.1254C>T p.A418A Substitution - coding silent 7:92352499-92352499 + TCGA-AZ-4315-01 COSM1452825 c.498A>C p.K166N Substitution - Missense 7:92319341-92319341 + T2197 COSM4661684 c.1276G>T p.G426C Substitution - Missense 7:92352521-92352521 + I2L-P27-Tumor-Organoid COSM5358332 c.1155A>G p.Q385Q Substitution - coding silent 7:92351019-92351019 + CHC2206T COSM4956996 c.1941A>C p.E647D Substitution - Missense 7:92390005-92390005 + TCGA-AA-3966-01 COSM266002 c.430delA p.N146fs*12 Deletion - Frameshift 7:92307600-92307600 + SJHGG019_E COSM4969263 c.3148G>A p.E1050K Substitution - Missense 7:92398827-92398827 + 26 COSM5748666 c.1054G>T p.G352* Substitution - Nonsense 7:92345035-92345035 + TCGA-60-2724-01 COSM747551 c.3049G>C p.V1017L Substitution - Missense 7:92398728-92398728 + SNUH_G73_S1 COSM4416276 c.2913C>A p.G971G Substitution - coding silent 7:92398592-92398592 + SNU-C2B COSM1093042 c.2413A>G p.S805G Substitution - Missense 7:92397740-92397740 + TCGA-DK-A2I4-01 COSM3778686 c.2935G>C p.D979H Substitution - Missense 7:92398614-92398614 + TCGA-CJ-5677-01 COSM485727 c.11C>A p.T4K Substitution - Missense 7:92294989-92294989 + LUAD-E01014 COSM403493 c.1198A>G p.M400V Substitution - Missense 7:92351062-92351062 + TCGA-AA-3663-01 COSM1452830 c.2079C>T p.D693D Substitution - coding silent 7:92391192-92391192 + LOVO COSM2864138 c.2440G>A p.V814M Substitution - Missense 7:92397767-92397767 + 587338 COSM1182817 c.1510G>A p.E504K Substitution - Missense 7:92371500-92371500 + PT25 COSM5943102 c.486+5_486+6insT p.? Unknown 7:92307661-92307662 + CN-AML-08-T COSM5425893 c.1952A>G p.H651R Substitution - Missense 7:92390016-92390016 + I2L-P9-Tumor-Organoid COSM5358547 c.286G>A p.E96K Substitution - Missense 7:92307456-92307456 + CSCC-4-T COSM4466451 c.1435C>T p.Q479* Substitution - Nonsense 7:92362222-92362222 + TCGA-CG-5728-01 COSM3883361 c.2522A>G p.D841G Substitution - Missense 7:92397849-92397849 + TCGA-CC-A3MB-01 COSM4933773 c.3090T>C p.S1030S Substitution - coding silent 7:92398769-92398769 + TCGA-LL-A5YP-01 COSM4391502 c.2888C>G p.P963R Substitution - Missense 7:92398567-92398567 + 3N44-VS-3T44 COSM4982322 c.2458A>G p.M820V Substitution - Missense 7:92397785-92397785 + CPCG0094-F1 COSM4879812 c.2096A>G p.N699S Substitution - Missense 7:92391209-92391209 + TCGA-DS-A0VL-01 COSM461521 c.2870A>G p.D957G Substitution - Missense 7:92398549-92398549 + TCGA-D1-A15X-01 COSM1093030 c.25C>T p.R9C Substitution - Missense 7:92295003-92295003 + LUAD-B00859 COSM332493 c.1048C>T p.P350S Substitution - Missense 7:92345029-92345029 + sysucc-1397T COSM5475096 c.189-1G>T p.? Unknown 7:92307358-92307358 + T469 COSM4661682 c.622G>A p.E208K Substitution - Missense 7:92319465-92319465 + 19M COSM5578018 c.2107C>T p.L703F Substitution - Missense 7:92391220-92391220 + 40M COSM5584447 c.862A>C p.M288L Substitution - Missense 7:92343098-92343098 + 86326 COSM95761 c.2766C>T p.L922L Substitution - coding silent 7:92398445-92398445 + ME009T COSM223180 c.2306G>A p.R769Q Substitution - Missense 7:92396387-92396387 + T155 COSM1177017 c.2037T>G p.I679M Substitution - Missense 7:92390101-92390101 + TARGET-30-PARSRJ COSM1283408 c.1839+1G>C p.? Unknown 7:92387885-92387885 + T3079 COSM4661683 c.951C>T p.S317S Substitution - coding silent 7:92343187-92343187 + HCC158 COSM3663399 c.1954G>A p.V652M Substitution - Missense 7:92390018-92390018 + TCGA-D1-A103-01 COSM1093031 c.171A>G p.G57G Substitution - coding silent 7:92295149-92295149 + SNUH_G15_S1 COSM3685252 c.2102C>T p.P701L Substitution - Missense 7:92391215-92391215 + HT115 COSM1283409 c.3143C>T p.A1048V Substitution - Missense 7:92398822-92398822 + HT115 COSM2864154 c.3191A>G p.N1064S Substitution - Missense 7:92398870-92398870 + NB-1977 COSM1283409 c.3143C>T p.A1048V Substitution - Missense 7:92398822-92398822 + LUAD-RT-S01777 COSM382488 c.1559C>T p.A520V Substitution - Missense 7:92371549-92371549 + DLD1 COSM4626088 c.2883G>T p.Q961H Substitution - Missense 7:92398562-92398562 + LUAD-S01315 COSM346011 c.1493G>T p.G498V Substitution - Missense 7:92371483-92371483 + S02350 COSM5694875 c.1255A>C p.I419L Substitution - Missense 7:92352500-92352500 + H441 COSM1193526 c.1516G>A p.A506T Substitution - Missense 7:92371506-92371506 + T3021 COSM266002 c.430delA p.N146fs*12 Deletion - Frameshift 7:92307600-92307600 + A549 COSM1193360 c.2486G>T p.R829L Substitution - Missense 7:92397813-92397813 + TCGA-DD-A3A8-01 COSM4934854 c.424G>C p.D142H Substitution - Missense 7:92307594-92307594 + TCGA-AG-A002-01 COSM259426 c.2932C>A p.H978N Substitution - Missense 7:92398611-92398611 + sysucc-1577T COSM3762897 c.2544C>G p.S848S Substitution - coding silent 7:92398223-92398223 + ATL074 COSM5710741 c.1574C>T p.P525L Substitution - Missense 7:92371564-92371564 + CRC-03T COSM1093038 c.1518C>T p.A506A Substitution - coding silent 7:92371508-92371508 + ESO17T COSM1173348 c.2374G>T p.E792* Substitution - Nonsense 7:92396455-92396455 + TCGA-EE-A29E-06 COSM3642257 c.2944C>T p.P982S Substitution - Missense 7:92398623-92398623 + KYSE180 COSM2864153 c.3109delA p.I1037fs*1 Deletion - Frameshift 7:92398788-92398788 + TCGA-D1-A15X-01 COSM1093037 c.1191A>G p.S397S Substitution - coding silent 7:92351055-92351055 + TCGA-BR-8686-01 COSM1093041 c.2410G>A p.G804S Substitution - Missense 7:92397737-92397737 + SNUH_G15_S1 COSM3685251 c.2098A>G p.R700G Substitution - Missense 7:92391211-92391211 + AOCS-150-3-1 COSM4149405 c.2170T>C p.F724L Substitution - Missense 7:92391283-92391283 + 2492729 COSM5727276 c.2301G>A p.Q767Q Substitution - coding silent 7:92396382-92396382 + RK233_C01 COSM4778883 c.1666A>G p.S556G Substitution - Missense 7:92386557-92386557 + TCGA-A6-6140-01 COSM3762898 c.3046C>A p.L1016M Substitution - Missense 7:92398725-92398725 + PCSI_0073_Pa_P COSM3382015 c.3067A>G p.M1023V Substitution - Missense 7:92398746-92398746 + AOCS-150-8-X COSM4149405 c.2170T>C p.F724L Substitution - Missense 7:92391283-92391283 + TCGA-22-5473-01 COSM747554 c.2502C>T p.A834A Substitution - coding silent 7:92397829-92397829 + TCGA-HQ-A2OE-01 COSM1313416 c.1286G>C p.R429T Substitution - Missense 7:92352531-92352531 + TCGA-CG-5723-01 COSM3883364 c.3119A>C p.N1040T Substitution - Missense 7:92398798-92398798 + 19M COSM5578019 c.3122C>T p.P1041L Substitution - Missense 7:92398801-92398801 + 26 COSM5748667 c.1055G>T p.G352V Substitution - Missense 7:92345036-92345036 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741326;Hs.741328 7q21.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.3267+387delT 7 92028647 HC A C Synonymous p.V395V c.1185A>C 7 91980363 LUAD A - Frameshift p.N146Tfs*12 c.437delA 7 91936914 STAD A G Missense p.D799G c.2396A>G 7 92027037 HC A G Missense p.D841G c.2522A>G 7 92027163 STAD A G Missense p.E688G c.2063A>G 7 92020490 PRAD A G Missense p.S805G c.2413A>G 7 92027054 HNSC A G Synonymous p.L862L c.2586A>G 7 92027579 LUSC A T Missense p.I419F c.1255A>T 7 91981814 LUAD AT - SpliceAcceptorDeletion . c.2398_2399delAT 7 92027037 RCCC A T Synonymous p.P303P c.909A>T 7 91972459 STAD A T Synonymous p.P665P c.1995A>T 7 92019373 LUSC C A Missense p.T4K c.11C>A 7 91924303 RCCC C A Synonymous p.I973I c.2919C>A 7 92027912 RCCC CCTTCTTC - IntronicDeletion . c.1397+2247_1397+2254delCCTTCTTC 7 91984203 CLL C G Missense p.Q572E c.1714C>G 7 92015919 ESCA C G Synonymous p.A298A c.894C>G 7 91972444 UCEC C T 3-UTRSNV . c.3267+216C>T 7 92028476 MB C T IntronicSNV . c.2283+1982C>T 7 92023588 PIA C T Missense p.A887V c.2660C>T 7 92027653 STAD C T Missense p.H78Y c.232C>T 7 91936716 UCEC C T Missense p.P101L c.302C>T 7 91936786 CM C T Missense p.P293S c.877C>T 7 91972427 UCEC C T Missense p.P425L c.1274C>T 7 91981833 CM C T Missense p.P760L c.2279C>T 7 92021602 CM C T Missense p.R907W c.2719C>T 7 92027712 UCEC C T Missense p.S1022L c.3065C>T 7 92028058 CM C T Missense p.S275F c.824C>T 7 91972374 CM C T Nonsense p.Q844* c.2530C>T 7 92027171 CM C T Synonymous p.A834A c.2502C>T 7 92027143 LUSC C T Synonymous p.F8F c.24C>T 7 91924316 CM G A Missense p.E550K c.1648G>A 7 92015853 LUAD G A Missense p.G804S c.2410G>A 7 92027051 UCEC G A Missense p.R567H c.1700G>A 7 92015905 HNSC G A Nonsense p.W421* c.1262G>A 7 91981821 BLCA G A SpliceAcceptorSNV . c.997-1G>A 7 91974291 LUSC G A Synonymous p.L937L c.2811G>A 7 92027804 LUSC G C Missense p.D382H c.1144G>C 7 91980322 LUSC G C Missense p.D897H c.2689G>C 7 92027682 BLCA G C Missense p.D979H c.2935G>C 7 92027928 BLCA G C Missense p.E267Q c.799G>C 7 91972349 BLCA G C Missense p.G498A c.1493G>C 7 92000797 LUAD G C Missense p.R113T c.338G>C 7 91936822 LUSC G C Missense p.R429T c.1286G>C 7 91981845 BLCA G C Missense p.R730P c.2189G>C 7 92020616 COREAD G C Missense p.V1017L c.3049G>C 7 92028042 LUSC G C Missense p.V717L c.2149G>C 7 92020576 STAD G T Missense p.C509F c.1526G>T 7 92000830 LUSC G T Missense p.D642Y c.1924G>T 7 92019302 COREAD G T Missense p.G442V c.1325G>T 7 91981884 BLCA G T Missense p.R604I c.1811G>T 7 92017170 LUAD G T Missense p.R808L c.2423G>T 7 92027064 LUSC G T Nonsense p.E134* c.400G>T 7 91936884 CM G T Nonsense p.E208* c.622G>T 7 91948779 SCLC T A Missense p.H473Q c.1419T>A 7 91991520 GBM T C Synonymous p.D998D c.2994T>C 7 92027987 CM T C Synonymous p.L549L c.1647T>C 7 92015852 UCEC T G IntronicSNV . c.486+4176T>G 7 91941146 CLL T G Missense p.L916V c.2746T>G 7 92027739 BLCA TT - Frameshift p.F544Lfs*6 c.1632_1633delTT 7 92015835 COREAD TTGTATGTGCA - Frameshift p.I335Mfs*6 c.1005_1015delTTGTATGTGCA 7 91974300 RCCC