Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 13 35619479 35619479 + Nonsense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 g.chr13:35619479C>T c.664C>T c.(664-666)Cag>Tag p.Q222* BLCA 13 35619479 35619479 + Nonsense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr13:35619479C>T c.664C>T c.(664-666)Cag>Tag p.Q222* BLCA 13 35644242 35644242 + Splice_Site SNP G G C TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr13:35644242G>C c.1437G>C c.(1435-1437)caG>caC p.Q479H BLCA 13 35731303 35731303 + Nonsense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr13:35731303G>T c.2740G>T c.(2740-2742)Gaa>Taa p.E914* BLCA 13 35733432 35733432 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr13:35733432G>C c.3124G>C c.(3124-3126)Gat>Cat p.D1042H BLCA 13 35734101 35734101 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 g.chr13:35734101G>A c.3793G>A c.(3793-3795)Gaa>Aaa p.E1265K BLCA 13 35751167 35751167 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr13:35751167C>T c.4589C>T c.(4588-4590)cCt>cTt p.P1530L BLCA 13 35770201 35770201 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 g.chr13:35770201G>A c.5128G>A c.(5128-5130)Gaa>Aaa p.E1710K BLCA 13 35782858 35782858 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr13:35782858G>T c.5388G>T c.(5386-5388)aaG>aaT p.K1796N BLCA 13 35923273 35923273 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 g.chr13:35923273A>G c.5932A>G c.(5932-5934)Ata>Gta p.I1978V BLCA 13 35926317 35926317 + Silent SNP T T C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr13:35926317T>C c.6036T>C c.(6034-6036)gcT>gcC p.A2012A BLCA 13 35926351 35926351 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr13:35926351C>G c.6070C>G c.(6070-6072)Ctt>Gtt p.L2024V BLCA 13 36006473 36006473 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr13:36006473C>T c.6247C>T c.(6247-6249)Cgc>Tgc p.R2083C BLCA 13 36026232 36026232 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 g.chr13:36026232C>T c.6308C>T c.(6307-6309)aCg>aTg p.T2103M BLCA 13 36129146 36129146 + Nonsense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr13:36129146C>T c.6829C>T c.(6829-6831)Cga>Tga p.R2277* BLCA 13 36229746 36229746 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr13:36229746G>A c.8159G>A c.(8158-8160)tGg>tAg p.W2720* BLCA 13 36229815 36229815 + Missense_Mutation SNP C C G TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr13:36229815C>G c.8228C>G c.(8227-8229)tCt>tGt p.S2743C BLCA 13 36241593 36241593 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr13:36241593G>C c.8484G>C c.(8482-8484)ttG>ttC p.L2828F BLCA 13 36242531 36242531 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr13:36242531G>A c.8625G>A c.(8623-8625)caG>caA p.Q2875Q BRCA 13 35517230 35517230 + Silent SNP C C T TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 g.chr13:35517230C>T c.273C>T c.(271-273)atC>atT p.I91I BRCA 13 35632987 35632987 + Missense_Mutation SNP G G C TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr13:35632987G>C c.1226G>C c.(1225-1227)gGa>gCa p.G409A BRCA 13 35644134 35644135 + Frame_Shift_Del DEL TG TG - TCGA-AR-A0U0-01A-11D-A10G-09 TCGA-AR-A0U0-10A-01D-A10G-09 g.chr13:35644134_35644135delTG c.1329_1330delTG c.(1327-1332)attgccfs p.A444fs BRCA 13 35716469 35716469 + Missense_Mutation SNP G G T TCGA-E9-A295-01A-11D-A16D-09 TCGA-E9-A295-10A-01D-A16D-09 g.chr13:35716469G>T c.2400G>T c.(2398-2400)ttG>ttT p.L800F BRCA 13 35733166 35733166 + Missense_Mutation SNP C C T TCGA-B6-A0IK-01A-12W-A071-09 TCGA-B6-A0IK-10A-01W-A071-09 g.chr13:35733166C>T c.2858C>T c.(2857-2859)gCt>gTt p.A953V BRCA 13 35733461 35733463 + In_Frame_Del DEL AGT AGT - TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 g.chr13:35733461_35733463delAGT c.3153_3155delAGT c.(3151-3156)gaagta>gaa p.V1052del BRCA 13 35733695 35733695 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:35733695G>T c.3387G>T c.(3385-3387)ttG>ttT p.L1129F BRCA 13 35756527 35756527 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr13:35756527C>T c.4693C>T c.(4693-4695)Ctg>Ttg p.L1565L BRCA 13 35770032 35770032 + Missense_Mutation SNP A A T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 g.chr13:35770032A>T c.4959A>T c.(4957-4959)aaA>aaT p.K1653N BRCA 13 35785239 35785239 + Silent SNP G G C TCGA-BH-A1FG-01A-11D-A13L-09 TCGA-BH-A1FG-11B-12D-A13O-09 g.chr13:35785239G>C c.5571G>C c.(5569-5571)gtG>gtC p.V1857V BRCA 13 36046644 36046644 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr13:36046644G>A c.6556G>A c.(6556-6558)Gat>Aat p.D2186N BRCA 13 36202288 36202288 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 g.chr13:36202288G>A c.7520G>A c.(7519-7521)cGa>cAa p.R2507Q BRCA 13 36229053 36229053 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr13:36229053C>G c.8034C>G c.(8032-8034)atC>atG p.I2678M BRCA 13 36229093 36229093 + Missense_Mutation SNP A A T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 g.chr13:36229093A>T c.8074A>T c.(8074-8076)Att>Ttt p.I2692F BRCA 13 36239286 36239286 + Silent SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr13:36239286C>T c.8364C>T c.(8362-8364)gtC>gtT p.V2788V BRCA 13 36242576 36242576 + Frame_Shift_Del DEL G G - TCGA-D8-A1Y2-01A-11D-A159-09 TCGA-D8-A1Y2-10A-01D-A159-09 g.chr13:36242576delG c.8670delG c.(8668-8670)cagfs p.Q2890fs CESC 13 35622736 35622736 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr13:35622736C>T c.760C>T c.(760-762)Cag>Tag p.Q254* CESC 13 35692417 35692417 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 g.chr13:35692417C>T c.2135C>T c.(2134-2136)aCg>aTg p.T712M CESC 13 35736037 35736037 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr13:35736037C>G c.4012C>G c.(4012-4014)Cca>Gca p.P1338A CESC 13 35747728 35747728 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr13:35747728G>A c.4551G>A c.(4549-4551)tcG>tcA p.S1517S CESC 13 35751232 35751232 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr13:35751232C>T c.4654C>T c.(4654-4656)Cgg>Tgg p.R1552W CESC 13 35770151 35770151 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr13:35770151C>A c.5078C>A c.(5077-5079)aCa>aAa p.T1693K CESC 13 35926395 35926395 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 g.chr13:35926395G>A c.6114G>A c.(6112-6114)caG>caA p.Q2038Q CESC 13 36026233 36026233 + Silent SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 g.chr13:36026233G>T c.6309G>T c.(6307-6309)acG>acT p.T2103T CESC 13 36026253 36026253 + Nonsense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr13:36026253C>G c.6329C>G c.(6328-6330)tCa>tGa p.S2110* CESC 13 36129178 36129178 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr13:36129178G>T c.6861G>T c.(6859-6861)caG>caT p.Q2287H CESC 13 36220484 36220484 + Splice_Site SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chr13:36220484T>C c.7706T>C c.(7705-7707)cTg>cCg p.L2569P CESC 13 36229092 36229092 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr13:36229092T>C c.8073T>C c.(8071-8073)taT>taC p.Y2691Y CESC 13 36239230 36239230 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr13:36239230C>G c.8308C>G c.(8308-8310)Ccg>Gcg p.P2770A COAD 13 35615082 35615082 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:35615082G>T c.307G>T c.(307-309)Gaa>Taa p.E103* COAD 13 35615082 35615082 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:35615082G>T c.307G>T c.(307-309)Gaa>Taa p.E103* COAD 13 35615221 35615221 + Missense_Mutation SNP G G A TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr13:35615221G>A c.446G>A c.(445-447)cGg>cAg p.R149Q COAD 13 35615221 35615221 + Missense_Mutation SNP G G T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr13:35615221G>T c.446G>T c.(445-447)cGg>cTg p.R149L COAD 13 35615292 35615292 + Missense_Mutation SNP A A G TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:35615292A>G c.517A>G c.(517-519)Atg>Gtg p.M173V COAD 13 35615292 35615292 + Missense_Mutation SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr13:35615292A>G c.517A>G c.(517-519)Atg>Gtg p.M173V COAD 13 35615292 35615292 + Missense_Mutation SNP A A G TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr13:35615292A>G c.517A>G c.(517-519)Atg>Gtg p.M173V COAD 13 35615293 35615293 + Missense_Mutation SNP T T C TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chr13:35615293T>C c.518T>C c.(517-519)aTg>aCg p.M173T COAD 13 35622725 35622725 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr13:35622725A>G c.749A>G c.(748-750)aAg>aGg p.K250R COAD 13 35622725 35622725 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr13:35622725A>G c.749A>G c.(748-750)aAg>aGg p.K250R COAD 13 35622814 35622814 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:35622814C>A c.838C>A c.(838-840)Ctt>Att p.L280I COAD 13 35624521 35624521 + Nonsense_Mutation SNP C C T TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr13:35624521C>T c.961C>T c.(961-963)Caa>Taa p.Q321* COAD 13 35630261 35630261 + Missense_Mutation SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr13:35630261A>G c.1087A>G c.(1087-1089)Aat>Gat p.N363D COAD 13 35630261 35630261 + Missense_Mutation SNP A A G TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr13:35630261A>G c.1087A>G c.(1087-1089)Aat>Gat p.N363D COAD 13 35644195 35644195 + Missense_Mutation SNP G G A TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr13:35644195G>A c.1390G>A c.(1390-1392)Gag>Aag p.E464K COAD 13 35644979 35644979 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:35644979A>G c.1561A>G c.(1561-1563)Aca>Gca p.T521A COAD 13 35672435 35672435 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:35672435G>A c.1573G>A c.(1573-1575)Gct>Act p.A525T COAD 13 35683425 35683425 + Splice_Site SNP A A C TCGA-F4-6806-01A-11D-1835-10 TCGA-F4-6806-10A-01D-1835-10 g.chr13:35683425A>C c.e12-1 COAD 13 35685046 35685046 + Missense_Mutation SNP C C T TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr13:35685046C>T c.1933C>T c.(1933-1935)Cac>Tac p.H645Y COAD 13 35685047 35685047 + Missense_Mutation SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr13:35685047A>G c.1934A>G c.(1933-1935)cAc>cGc p.H645R COAD 13 35685047 35685047 + Missense_Mutation SNP A A G TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr13:35685047A>G c.1934A>G c.(1933-1935)cAc>cGc p.H645R COAD 13 35685047 35685047 + Missense_Mutation SNP A A G TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr13:35685047A>G c.1934A>G c.(1933-1935)cAc>cGc p.H645R COAD 13 35685048 35685048 + Silent SNP C C T TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr13:35685048C>T c.1935C>T c.(1933-1935)caC>caT p.H645H COAD 13 35685096 35685096 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr13:35685096C>T c.1983C>T c.(1981-1983)ggC>ggT p.G661G COAD 13 35692389 35692389 + Missense_Mutation SNP C C A TCGA-AA-3971-01A-01W-0995-10 TCGA-AA-3971-10A-01W-0999-10 g.chr13:35692389C>A c.2107C>A c.(2107-2109)Ctt>Att p.L703I COAD 13 35692599 35692599 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:35692599G>T c.2231G>T c.(2230-2232)aGa>aTa p.R744I COAD 13 35692599 35692599 + Missense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:35692599G>T c.2231G>T c.(2230-2232)aGa>aTa p.R744I COAD 13 35729927 35729927 + Missense_Mutation SNP T T A TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr13:35729927T>A c.2462T>A c.(2461-2463)gTa>gAa p.V821E COAD 13 35729941 35729941 + Missense_Mutation SNP G G A TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr13:35729941G>A c.2476G>A c.(2476-2478)Gta>Ata p.V826I COAD 13 35730247 35730248 + Frame_Shift_Ins INS - - A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr13:35730247_35730248insA c.2555_2556insA c.(2554-2559)ttaaaafs p.LK852fs COAD 13 35730312 35730312 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:35730312A>C c.2620A>C c.(2620-2622)Aaa>Caa p.K874Q COAD 13 35731365 35731365 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:35731365C>A c.2802C>A c.(2800-2802)ggC>ggA p.G934G COAD 13 35733188 35733188 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:35733188A>C c.2880A>C c.(2878-2880)aaA>aaC p.K960N COAD 13 35733237 35733237 + Missense_Mutation SNP A A C TCGA-AA-3688-01A-01W-0900-09 TCGA-AA-3688-10A-01W-0900-09 g.chr13:35733237A>C c.2929A>C c.(2929-2931)Aag>Cag p.K977Q COAD 13 35733384 35733384 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:35733384G>T c.3076G>T c.(3076-3078)Gac>Tac p.D1026Y COAD 13 35733719 35733719 + Missense_Mutation SNP A A T TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr13:35733719A>T c.3411A>T c.(3409-3411)gaA>gaT p.E1137D COAD 13 35734141 35734141 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr13:35734141G>A c.3833G>A c.(3832-3834)cGa>cAa p.R1278Q COAD 13 35735998 35735998 + Missense_Mutation SNP C C T TCGA-AD-6899-01A-11D-1924-10 TCGA-AD-6899-10A-01D-1924-10 g.chr13:35735998C>T c.3973C>T c.(3973-3975)Cgg>Tgg p.R1325W COAD 13 35735998 35735998 + Missense_Mutation SNP C C T TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr13:35735998C>T c.3973C>T c.(3973-3975)Cgg>Tgg p.R1325W COAD 13 35736055 35736055 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:35736055C>A c.4030C>A c.(4030-4032)Ctc>Atc p.L1344I COAD 13 35745555 35745555 + Silent SNP T T A TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr13:35745555T>A c.4389T>A c.(4387-4389)tcT>tcA p.S1463S COAD 13 35745583 35745583 + Silent SNP A A C TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr13:35745583A>C c.4417A>C c.(4417-4419)Aga>Cga p.R1473R COAD 13 35751169 35751169 + Missense_Mutation SNP A A T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr13:35751169A>T c.4591A>T c.(4591-4593)Att>Ttt p.I1531F COAD 13 35751190 35751190 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:35751190C>A c.4612C>A c.(4612-4614)Ctt>Att p.L1538I COAD 13 35756666 35756666 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:35756666G>A c.e29+1 COAD 13 35770210 35770210 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:35770210A>G c.5137A>G c.(5137-5139)Aaa>Gaa p.K1713E COAD 13 35770249 35770249 + Silent SNP T T C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:35770249T>C c.5176T>C c.(5176-5178)Ttg>Ctg p.L1726L COAD 13 35770277 35770277 + Missense_Mutation SNP T T C TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr13:35770277T>C c.5204T>C c.(5203-5205)aTt>aCt p.I1735T COAD 13 35770435 35770435 + Missense_Mutation SNP G G A TCGA-AA-A017-01A-01W-A00E-09 TCGA-AA-A017-10A-01W-A00E-09 g.chr13:35770435G>A c.5362G>A c.(5362-5364)Gac>Aac p.D1788N COAD 13 35806653 35806653 + Silent SNP G G A TCGA-AA-A01V-01A-23W-A096-10 TCGA-AA-A01V-11A-11W-A096-10 g.chr13:35806653G>A c.5673G>A c.(5671-5673)gcG>gcA p.A1891A COAD 13 35806744 35806744 + Silent SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr13:35806744C>T c.5764C>T c.(5764-5766)Cta>Tta p.L1922L COAD 13 35806757 35806757 + Splice_Site SNP G G T TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr13:35806757G>T c.e34+1 COAD 13 35926329 35926329 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr13:35926329G>T c.6048G>T c.(6046-6048)gaG>gaT p.E2016D COAD 13 36026233 36026233 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr13:36026233G>A c.6309G>A c.(6307-6309)acG>acA p.T2103T COAD 13 36026303 36026303 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36026303G>T c.6379G>T c.(6379-6381)Gaa>Taa p.E2127* COAD 13 36026371 36026371 + Splice_Site SNP A A T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr13:36026371A>T c.6447A>T c.(6445-6447)gcA>gcT p.A2149A COAD 13 36046629 36046629 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36046629G>A c.6541G>A c.(6541-6543)Gag>Aag p.E2181K COAD 13 36124683 36124683 + Missense_Mutation SNP C C A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:36124683C>A c.6655C>A c.(6655-6657)Cgt>Agt p.R2219S COAD 13 36124683 36124683 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:36124683C>T c.6655C>T c.(6655-6657)Cgt>Tgt p.R2219C COAD 13 36124683 36124683 + Missense_Mutation SNP C C T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr13:36124683C>T c.6655C>T c.(6655-6657)Cgt>Tgt p.R2219C COAD 13 36124684 36124684 + Missense_Mutation SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr13:36124684G>T c.6656G>T c.(6655-6657)cGt>cTt p.R2219L COAD 13 36129211 36129211 + Silent SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:36129211A>G c.6894A>G c.(6892-6894)gaA>gaG p.E2298E COAD 13 36158080 36158080 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:36158080C>T c.7081C>T c.(7081-7083)Cgt>Tgt p.R2361C COAD 13 36158125 36158125 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:36158125A>C c.7126A>C c.(7126-7128)Aat>Cat p.N2376H COAD 13 36167523 36167523 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36167523G>A c.7235G>A c.(7234-7236)cGa>cAa p.R2412Q COAD 13 36167523 36167523 + Missense_Mutation SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr13:36167523G>A c.7235G>A c.(7234-7236)cGa>cAa p.R2412Q COAD 13 36167537 36167537 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr13:36167537G>A c.7249G>A c.(7249-7251)Gtt>Att p.V2417I COAD 13 36180679 36180679 + Frame_Shift_Del DEL A A - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr13:36180679delA c.7413delA c.(7411-7413)gcafs p.A2471fs COAD 13 36220448 36220448 + Missense_Mutation SNP T T A TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr13:36220448T>A c.7670T>A c.(7669-7671)aTt>aAt p.I2557N COAD 13 36223812 36223812 + Silent SNP G G A TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr13:36223812G>A c.7728G>A c.(7726-7728)ccG>ccA p.P2576P COAD 13 36223924 36223924 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36223924G>A c.7840G>A c.(7840-7842)Gca>Aca p.A2614T COAD 13 36225941 36225941 + Splice_Site SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36225941G>T c.e52-1 COAD 13 36229087 36229087 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr13:36229087C>T c.8068C>T c.(8068-8070)Cgc>Tgc p.R2690C COAD 13 36229854 36229854 + Missense_Mutation SNP G G A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr13:36229854G>A c.8267G>A c.(8266-8268)cGg>cAg p.R2756Q COAD 13 36239252 36239252 + Missense_Mutation SNP C C A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr13:36239252C>A c.8330C>A c.(8329-8331)aCa>aAa p.T2777K COAD 13 36241564 36241564 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:36241564G>T c.8455G>T c.(8455-8457)Gga>Tga p.G2819* COAD 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr13:36241642C>T c.8533C>T c.(8533-8535)Cga>Tga p.R2845* COAD 13 36241662 36241662 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:36241662T>G c.8553T>G c.(8551-8553)atT>atG p.I2851M COAD 13 36242544 36242544 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:36242544G>A c.8638G>A c.(8638-8640)Gga>Aga p.G2880R COAD 13 36242645 36242645 + Silent SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36242645C>A c.8739C>A c.(8737-8739)tcC>tcA p.S2913S COAD 13 36245077 36245077 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36245077T>G c.8790T>G c.(8788-8790)gcT>gcG p.A2930A COADREAD 13 35615082 35615082 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:35615082G>T c.307G>T c.(307-309)Gaa>Taa p.E103* COADREAD 13 35615082 35615082 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:35615082G>T c.307G>T c.(307-309)Gaa>Taa p.E103* COADREAD 13 35615220 35615220 + Silent SNP C C A TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr13:35615220C>A c.445C>A c.(445-447)Cgg>Agg p.R149R COADREAD 13 35615221 35615221 + Missense_Mutation SNP G G A TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr13:35615221G>A c.446G>A c.(445-447)cGg>cAg p.R149Q COADREAD 13 35615221 35615221 + Missense_Mutation SNP G G T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr13:35615221G>T c.446G>T c.(445-447)cGg>cTg p.R149L COADREAD 13 35615292 35615292 + Missense_Mutation SNP A A G TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:35615292A>G c.517A>G c.(517-519)Atg>Gtg p.M173V COADREAD 13 35615292 35615292 + Missense_Mutation SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr13:35615292A>G c.517A>G c.(517-519)Atg>Gtg p.M173V COADREAD 13 35615292 35615292 + Missense_Mutation SNP A A G TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr13:35615292A>G c.517A>G c.(517-519)Atg>Gtg p.M173V COADREAD 13 35615293 35615293 + Missense_Mutation SNP T T C TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chr13:35615293T>C c.518T>C c.(517-519)aTg>aCg p.M173T COADREAD 13 35622725 35622725 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr13:35622725A>G c.749A>G c.(748-750)aAg>aGg p.K250R COADREAD 13 35622725 35622725 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr13:35622725A>G c.749A>G c.(748-750)aAg>aGg p.K250R COADREAD 13 35622814 35622814 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:35622814C>A c.838C>A c.(838-840)Ctt>Att p.L280I COADREAD 13 35624521 35624521 + Nonsense_Mutation SNP C C T TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr13:35624521C>T c.961C>T c.(961-963)Caa>Taa p.Q321* COADREAD 13 35630261 35630261 + Missense_Mutation SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr13:35630261A>G c.1087A>G c.(1087-1089)Aat>Gat p.N363D COADREAD 13 35630261 35630261 + Missense_Mutation SNP A A G TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr13:35630261A>G c.1087A>G c.(1087-1089)Aat>Gat p.N363D COADREAD 13 35644195 35644195 + Missense_Mutation SNP G G A TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr13:35644195G>A c.1390G>A c.(1390-1392)Gag>Aag p.E464K COADREAD 13 35644979 35644979 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:35644979A>G c.1561A>G c.(1561-1563)Aca>Gca p.T521A COADREAD 13 35672435 35672435 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:35672435G>A c.1573G>A c.(1573-1575)Gct>Act p.A525T COADREAD 13 35683425 35683425 + Splice_Site SNP A A C TCGA-F4-6806-01A-11D-1835-10 TCGA-F4-6806-10A-01D-1835-10 g.chr13:35683425A>C c.e12-1 COADREAD 13 35685046 35685046 + Missense_Mutation SNP C C T TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr13:35685046C>T c.1933C>T c.(1933-1935)Cac>Tac p.H645Y COADREAD 13 35685047 35685047 + Missense_Mutation SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr13:35685047A>G c.1934A>G c.(1933-1935)cAc>cGc p.H645R COADREAD 13 35685047 35685047 + Missense_Mutation SNP A A G TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr13:35685047A>G c.1934A>G c.(1933-1935)cAc>cGc p.H645R COADREAD 13 35685047 35685047 + Missense_Mutation SNP A A G TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr13:35685047A>G c.1934A>G c.(1933-1935)cAc>cGc p.H645R COADREAD 13 35685048 35685048 + Silent SNP C C T TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr13:35685048C>T c.1935C>T c.(1933-1935)caC>caT p.H645H COADREAD 13 35685096 35685096 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr13:35685096C>T c.1983C>T c.(1981-1983)ggC>ggT p.G661G COADREAD 13 35692389 35692389 + Missense_Mutation SNP C C A TCGA-AA-3971-01A-01W-0995-10 TCGA-AA-3971-10A-01W-0999-10 g.chr13:35692389C>A c.2107C>A c.(2107-2109)Ctt>Att p.L703I COADREAD 13 35692599 35692599 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:35692599G>T c.2231G>T c.(2230-2232)aGa>aTa p.R744I COADREAD 13 35692599 35692599 + Missense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:35692599G>T c.2231G>T c.(2230-2232)aGa>aTa p.R744I COADREAD 13 35729927 35729927 + Missense_Mutation SNP T T A TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr13:35729927T>A c.2462T>A c.(2461-2463)gTa>gAa p.V821E COADREAD 13 35729941 35729941 + Missense_Mutation SNP G G A TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr13:35729941G>A c.2476G>A c.(2476-2478)Gta>Ata p.V826I COADREAD 13 35730247 35730248 + Frame_Shift_Ins INS - - A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr13:35730247_35730248insA c.2555_2556insA c.(2554-2559)ttaaaafs p.LK852fs COADREAD 13 35730312 35730312 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:35730312A>C c.2620A>C c.(2620-2622)Aaa>Caa p.K874Q COADREAD 13 35731365 35731365 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:35731365C>A c.2802C>A c.(2800-2802)ggC>ggA p.G934G COADREAD 13 35733188 35733188 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:35733188A>C c.2880A>C c.(2878-2880)aaA>aaC p.K960N COADREAD 13 35733237 35733237 + Missense_Mutation SNP A A C TCGA-AA-3688-01A-01W-0900-09 TCGA-AA-3688-10A-01W-0900-09 g.chr13:35733237A>C c.2929A>C c.(2929-2931)Aag>Cag p.K977Q COADREAD 13 35733384 35733384 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:35733384G>T c.3076G>T c.(3076-3078)Gac>Tac p.D1026Y COADREAD 13 35733400 35733401 + Frame_Shift_Ins INS - - A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr13:35733400_35733401insA c.3092_3093insA c.(3091-3096)acaaaafs p.TK1031fs COADREAD 13 35733719 35733719 + Missense_Mutation SNP A A T TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr13:35733719A>T c.3411A>T c.(3409-3411)gaA>gaT p.E1137D COADREAD 13 35734058 35734058 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:35734058A>C c.3750A>C c.(3748-3750)aaA>aaC p.K1250N COADREAD 13 35734141 35734141 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr13:35734141G>A c.3833G>A c.(3832-3834)cGa>cAa p.R1278Q COADREAD 13 35735998 35735998 + Missense_Mutation SNP C C T TCGA-AD-6899-01A-11D-1924-10 TCGA-AD-6899-10A-01D-1924-10 g.chr13:35735998C>T c.3973C>T c.(3973-3975)Cgg>Tgg p.R1325W COADREAD 13 35735998 35735998 + Missense_Mutation SNP C C T TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr13:35735998C>T c.3973C>T c.(3973-3975)Cgg>Tgg p.R1325W COADREAD 13 35736055 35736055 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:35736055C>A c.4030C>A c.(4030-4032)Ctc>Atc p.L1344I COADREAD 13 35745555 35745555 + Silent SNP T T A TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr13:35745555T>A c.4389T>A c.(4387-4389)tcT>tcA p.S1463S COADREAD 13 35745583 35745583 + Silent SNP A A C TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr13:35745583A>C c.4417A>C c.(4417-4419)Aga>Cga p.R1473R COADREAD 13 35747658 35747658 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr13:35747658G>A c.4481G>A c.(4480-4482)gGa>gAa p.G1494E COADREAD 13 35751169 35751169 + Missense_Mutation SNP A A T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr13:35751169A>T c.4591A>T c.(4591-4593)Att>Ttt p.I1531F COADREAD 13 35751190 35751190 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:35751190C>A c.4612C>A c.(4612-4614)Ctt>Att p.L1538I COADREAD 13 35756666 35756666 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:35756666G>A c.e29+1 COADREAD 13 35758155 35758155 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:35758155G>T c.4874G>T c.(4873-4875)gGa>gTa p.G1625V COADREAD 13 35770201 35770201 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:35770201G>A c.5128G>A c.(5128-5130)Gaa>Aaa p.E1710K COADREAD 13 35770210 35770210 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:35770210A>G c.5137A>G c.(5137-5139)Aaa>Gaa p.K1713E COADREAD 13 35770249 35770249 + Silent SNP T T C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:35770249T>C c.5176T>C c.(5176-5178)Ttg>Ctg p.L1726L COADREAD 13 35770277 35770277 + Missense_Mutation SNP T T C TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr13:35770277T>C c.5204T>C c.(5203-5205)aTt>aCt p.I1735T COADREAD 13 35770298 35770298 + Missense_Mutation SNP A A T TCGA-AG-A00H-01A-01W-A00E-09 TCGA-AG-A00H-10A-01W-A00E-09 g.chr13:35770298A>T c.5225A>T c.(5224-5226)aAt>aTt p.N1742I COADREAD 13 35770435 35770435 + Missense_Mutation SNP G G A TCGA-AA-A017-01A-01W-A00E-09 TCGA-AA-A017-10A-01W-A00E-09 g.chr13:35770435G>A c.5362G>A c.(5362-5364)Gac>Aac p.D1788N COADREAD 13 35806653 35806653 + Silent SNP G G A TCGA-AA-A01V-01A-23W-A096-10 TCGA-AA-A01V-11A-11W-A096-10 g.chr13:35806653G>A c.5673G>A c.(5671-5673)gcG>gcA p.A1891A COADREAD 13 35806744 35806744 + Silent SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr13:35806744C>T c.5764C>T c.(5764-5766)Cta>Tta p.L1922L COADREAD 13 35806757 35806757 + Splice_Site SNP G G T TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr13:35806757G>T c.e34+1 COADREAD 13 35926329 35926329 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr13:35926329G>T c.6048G>T c.(6046-6048)gaG>gaT p.E2016D COADREAD 13 36006464 36006464 + Nonsense_Mutation SNP C C T TCGA-AG-3878-01A-02W-0899-10 TCGA-AG-3878-10A-01W-0901-10 g.chr13:36006464C>T c.6238C>T c.(6238-6240)Cga>Tga p.R2080* COADREAD 13 36006473 36006473 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:36006473C>T c.6247C>T c.(6247-6249)Cgc>Tgc p.R2083C COADREAD 13 36026233 36026233 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr13:36026233G>A c.6309G>A c.(6307-6309)acG>acA p.T2103T COADREAD 13 36026303 36026303 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36026303G>T c.6379G>T c.(6379-6381)Gaa>Taa p.E2127* COADREAD 13 36026371 36026371 + Splice_Site SNP A A T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr13:36026371A>T c.6447A>T c.(6445-6447)gcA>gcT p.A2149A COADREAD 13 36046629 36046629 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36046629G>A c.6541G>A c.(6541-6543)Gag>Aag p.E2181K COADREAD 13 36124683 36124683 + Missense_Mutation SNP C C A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:36124683C>A c.6655C>A c.(6655-6657)Cgt>Agt p.R2219S COADREAD 13 36124683 36124683 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:36124683C>T c.6655C>T c.(6655-6657)Cgt>Tgt p.R2219C COADREAD 13 36124683 36124683 + Missense_Mutation SNP C C T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr13:36124683C>T c.6655C>T c.(6655-6657)Cgt>Tgt p.R2219C COADREAD 13 36124684 36124684 + Missense_Mutation SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr13:36124684G>T c.6656G>T c.(6655-6657)cGt>cTt p.R2219L COADREAD 13 36129211 36129211 + Silent SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:36129211A>G c.6894A>G c.(6892-6894)gaA>gaG p.E2298E COADREAD 13 36158080 36158080 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:36158080C>T c.7081C>T c.(7081-7083)Cgt>Tgt p.R2361C COADREAD 13 36158125 36158125 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:36158125A>C c.7126A>C c.(7126-7128)Aat>Cat p.N2376H COADREAD 13 36167523 36167523 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36167523G>A c.7235G>A c.(7234-7236)cGa>cAa p.R2412Q COADREAD 13 36167523 36167523 + Missense_Mutation SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr13:36167523G>A c.7235G>A c.(7234-7236)cGa>cAa p.R2412Q COADREAD 13 36167537 36167537 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr13:36167537G>A c.7249G>A c.(7249-7251)Gtt>Att p.V2417I COADREAD 13 36180679 36180679 + Frame_Shift_Del DEL A A - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr13:36180679delA c.7413delA c.(7411-7413)gcafs p.A2471fs COADREAD 13 36220448 36220448 + Missense_Mutation SNP T T A TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr13:36220448T>A c.7670T>A c.(7669-7671)aTt>aAt p.I2557N COADREAD 13 36223812 36223812 + Silent SNP G G A TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr13:36223812G>A c.7728G>A c.(7726-7728)ccG>ccA p.P2576P COADREAD 13 36223924 36223924 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36223924G>A c.7840G>A c.(7840-7842)Gca>Aca p.A2614T COADREAD 13 36223948 36223948 + Nonsense_Mutation SNP C C T TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr13:36223948C>T c.7864C>T c.(7864-7866)Cga>Tga p.R2622* COADREAD 13 36225941 36225941 + Splice_Site SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36225941G>T c.e52-1 COADREAD 13 36229087 36229087 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr13:36229087C>T c.8068C>T c.(8068-8070)Cgc>Tgc p.R2690C COADREAD 13 36229754 36229754 + Missense_Mutation SNP G G A TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr13:36229754G>A c.8167G>A c.(8167-8169)Gtc>Atc p.V2723I COADREAD 13 36229854 36229854 + Missense_Mutation SNP G G A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr13:36229854G>A c.8267G>A c.(8266-8268)cGg>cAg p.R2756Q COADREAD 13 36239252 36239252 + Missense_Mutation SNP C C A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr13:36239252C>A c.8330C>A c.(8329-8331)aCa>aAa p.T2777K COADREAD 13 36241564 36241564 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:36241564G>T c.8455G>T c.(8455-8457)Gga>Tga p.G2819* COADREAD 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr13:36241642C>T c.8533C>T c.(8533-8535)Cga>Tga p.R2845* COADREAD 13 36241662 36241662 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:36241662T>G c.8553T>G c.(8551-8553)atT>atG p.I2851M COADREAD 13 36242544 36242544 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:36242544G>A c.8638G>A c.(8638-8640)Gga>Aga p.G2880R COADREAD 13 36242645 36242645 + Silent SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36242645C>A c.8739C>A c.(8737-8739)tcC>tcA p.S2913S COADREAD 13 36245077 36245077 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:36245077T>G c.8790T>G c.(8788-8790)gcT>gcG p.A2930A DLBC 13 35632915 35632915 + Missense_Mutation SNP G G A TCGA-FF-8062-01A-11D-2210-10 TCGA-FF-8062-10A-01D-2210-10 g.chr13:35632915G>A c.1154G>A c.(1153-1155)gGt>gAt p.G385D DLBC 13 35691562 35691562 + Missense_Mutation SNP C C T TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chr13:35691562C>T c.2014C>T c.(2014-2016)Cca>Tca p.P672S DLBC 13 35729913 35729913 + Silent SNP C C A TCGA-FA-A86F-01A-11D-A382-10 TCGA-FA-A86F-10A-01D-A385-10 g.chr13:35729913C>A c.2448C>A c.(2446-2448)atC>atA p.I816I DLBC 13 35782857 35782857 + Missense_Mutation SNP A A G TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr13:35782857A>G c.5387A>G c.(5386-5388)aAg>aGg p.K1796R ESCA 13 35615243 35615243 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr13:35615243A>C c.468A>C c.(466-468)gaA>gaC p.E156D ESCA 13 35632959 35632959 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 g.chr13:35632959G>A c.1198G>A c.(1198-1200)Gca>Aca p.A400T ESCA 13 35644148 35644148 + Missense_Mutation SNP A A C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr13:35644148A>C c.1343A>C c.(1342-1344)aAt>aCt p.N448T ESCA 13 35644864 35644864 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr13:35644864A>C c.1446A>C c.(1444-1446)aaA>aaC p.K482N ESCA 13 35683448 35683448 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr13:35683448A>G c.1702A>G c.(1702-1704)Aga>Gga p.R568G ESCA 13 35730247 35730248 + Frame_Shift_Ins INS - - A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr13:35730247_35730248insA c.2555_2556insA c.(2554-2559)ttaaaafs p.LK852fs ESCA 13 35731369 35731369 + Missense_Mutation SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr13:35731369A>G c.2806A>G c.(2806-2808)Aga>Gga p.R936G ESCA 13 35733224 35733224 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr13:35733224C>T c.2916C>T c.(2914-2916)aaC>aaT p.N972N ESCA 13 35733522 35733522 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr13:35733522G>A c.3214G>A c.(3214-3216)Gat>Aat p.D1072N ESCA 13 35734011 35734011 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr13:35734011G>T c.3703G>T c.(3703-3705)Gct>Tct p.A1235S ESCA 13 35751188 35751188 + Missense_Mutation SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 g.chr13:35751188T>C c.4610T>C c.(4609-4611)cTt>cCt p.L1537P ESCA 13 35751218 35751218 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 g.chr13:35751218G>A c.4640G>A c.(4639-4641)cGt>cAt p.R1547H ESCA 13 35751233 35751233 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 g.chr13:35751233G>A c.4655G>A c.(4654-4656)cGg>cAg p.R1552Q ESCA 13 35756623 35756623 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr13:35756623G>T c.4789G>T c.(4789-4791)Ggt>Tgt p.G1597C ESCA 13 35785239 35785239 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr13:35785239G>T c.5571G>T c.(5569-5571)gtG>gtT p.V1857V ESCA 13 35806721 35806721 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 g.chr13:35806721T>G c.5741T>G c.(5740-5742)cTt>cGt p.L1914R ESCA 13 35926358 35926358 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 g.chr13:35926358G>T c.6077G>T c.(6076-6078)aGt>aTt p.S2026I ESCA 13 36026232 36026232 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr13:36026232C>T c.6308C>T c.(6307-6309)aCg>aTg p.T2103M ESCA 13 36141112 36141112 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr13:36141112G>T c.6993G>T c.(6991-6993)gaG>gaT p.E2331D ESCA 13 36158057 36158057 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr13:36158057A>G c.7058A>G c.(7057-7059)aAg>aGg p.K2353R ESCA 13 36167537 36167537 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr13:36167537G>T c.7249G>T c.(7249-7251)Gtt>Ttt p.V2417F ESCA 13 36180665 36180665 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr13:36180665C>A c.7399C>A c.(7399-7401)Ctt>Att p.L2467I ESCA 13 36241657 36241657 + Missense_Mutation SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr13:36241657A>G c.8548A>G c.(8548-8550)Agc>Ggc p.S2850G ESCA 13 36245077 36245077 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr13:36245077T>C c.8790T>C c.(8788-8790)gcT>gcC p.A2930A GBM 13 35685025 35685025 + Missense_Mutation SNP G G C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 g.chr13:35685025G>C c.1912G>C c.(1912-1914)Gga>Cga p.G638R GBM 13 35730325 35730325 + Missense_Mutation SNP A A C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 g.chr13:35730325A>C c.2633A>C c.(2632-2634)aAc>aCc p.N878T GBM 13 35883701 35883701 + Missense_Mutation SNP G G C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 g.chr13:35883701G>C c.5875G>C c.(5875-5877)Gca>Cca p.A1959P GBM 13 36124652 36124652 + Missense_Mutation SNP G G A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 g.chr13:36124652G>A c.6624G>A c.(6622-6624)atG>atA p.M2208I GBM 13 36202290 36202290 + Missense_Mutation SNP G G A TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chr13:36202290G>A c.7522G>A c.(7522-7524)Gga>Aga p.G2508R GBMLGG 13 35683539 35683539 + Missense_Mutation SNP T T G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 g.chr13:35683539T>G c.1793T>G c.(1792-1794)aTt>aGt p.I598S GBMLGG 13 35685017 35685017 + Missense_Mutation SNP G G T TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 g.chr13:35685017G>T c.1904G>T c.(1903-1905)cGc>cTc p.R635L GBMLGG 13 35685025 35685025 + Missense_Mutation SNP G G C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 g.chr13:35685025G>C c.1912G>C c.(1912-1914)Gga>Cga p.G638R GBMLGG 13 35730325 35730325 + Missense_Mutation SNP A A C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 g.chr13:35730325A>C c.2633A>C c.(2632-2634)aAc>aCc p.N878T GBMLGG 13 35738505 35738505 + Missense_Mutation SNP G G T TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 g.chr13:35738505G>T c.4092G>T c.(4090-4092)aaG>aaT p.K1364N GBMLGG 13 35883701 35883701 + Missense_Mutation SNP G G C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 g.chr13:35883701G>C c.5875G>C c.(5875-5877)Gca>Cca p.A1959P GBMLGG 13 35923243 35923243 + Splice_Site SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr13:35923243A>G c.e37-1 GBMLGG 13 36124652 36124652 + Missense_Mutation SNP G G A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 g.chr13:36124652G>A c.6624G>A c.(6622-6624)atG>atA p.M2208I GBMLGG 13 36202290 36202290 + Missense_Mutation SNP G G A TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chr13:36202290G>A c.7522G>A c.(7522-7524)Gga>Aga p.G2508R GBMLGG 13 36223967 36223967 + Missense_Mutation SNP G G T TCGA-S9-A7IZ-01A-11D-A34A-08 TCGA-S9-A7IZ-10A-01D-A34A-08 g.chr13:36223967G>T c.7883G>T c.(7882-7884)aGa>aTa p.R2628I GBMLGG 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:36241642C>T c.8533C>T c.(8533-8535)Cga>Tga p.R2845* GBMLGG 13 36242525 36242525 + Silent SNP C C T TCGA-DU-7014-01A-11D-2024-08 TCGA-DU-7014-10A-01D-2024-08 g.chr13:36242525C>T c.8619C>T c.(8617-8619)gaC>gaT p.D2873D HNSC 13 35517144 35517144 + Missense_Mutation SNP C C G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 g.chr13:35517144C>G c.187C>G c.(187-189)Cct>Gct p.P63A HNSC 13 35517223 35517223 + Missense_Mutation SNP G G C TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr13:35517223G>C c.266G>C c.(265-267)aGg>aCg p.R89T HNSC 13 35615073 35615073 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr13:35615073G>A c.298G>A c.(298-300)Gtt>Att p.V100I HNSC 13 35615256 35615256 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr13:35615256G>A c.481G>A c.(481-483)Gaa>Aaa p.E161K HNSC 13 35619136 35619136 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr13:35619136G>A c.579G>A c.(577-579)aaG>aaA p.K193K HNSC 13 35619137 35619137 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr13:35619137G>A c.580G>A c.(580-582)Gag>Aag p.E194K HNSC 13 35622772 35622772 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr13:35622772G>A c.796G>A c.(796-798)Gat>Aat p.D266N HNSC 13 35630239 35630239 + Silent SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 g.chr13:35630239T>C c.1065T>C c.(1063-1065)gaT>gaC p.D355D HNSC 13 35632986 35632986 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr13:35632986G>C c.1225G>C c.(1225-1227)Gga>Cga p.G409R HNSC 13 35672472 35672472 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 g.chr13:35672472G>A c.1610G>A c.(1609-1611)aGt>aAt p.S537N HNSC 13 35672513 35672513 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr13:35672513delT c.1651delT c.(1651-1653)tttfs p.F551fs HNSC 13 35685031 35685031 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr13:35685031G>C c.1918G>C c.(1918-1920)Gta>Cta p.V640L HNSC 13 35733267 35733267 + Missense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr13:35733267C>A c.2959C>A c.(2959-2961)Ctt>Att p.L987I HNSC 13 35733543 35733543 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr13:35733543G>A c.3235G>A c.(3235-3237)Gag>Aag p.E1079K HNSC 13 35733561 35733561 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr13:35733561G>C c.3253G>C c.(3253-3255)Gag>Cag p.E1085Q HNSC 13 35733576 35733576 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr13:35733576G>C c.3268G>C c.(3268-3270)Gtg>Ctg p.V1090L HNSC 13 35733883 35733883 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr13:35733883G>C c.3575G>C c.(3574-3576)gGt>gCt p.G1192A HNSC 13 35735894 35735894 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chr13:35735894A>T c.3869A>T c.(3868-3870)cAg>cTg p.Q1290L HNSC 13 35747697 35747697 + Missense_Mutation SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr13:35747697T>C c.4520T>C c.(4519-4521)gTt>gCt p.V1507A HNSC 13 35751193 35751193 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr13:35751193C>T c.4615C>T c.(4615-4617)Cag>Tag p.Q1539* HNSC 13 35770345 35770345 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr13:35770345G>A c.5272G>A c.(5272-5274)Gca>Aca p.A1758T HNSC 13 36129126 36129126 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr13:36129126G>A c.6809G>A c.(6808-6810)aGg>aAg p.R2270K HNSC 13 36229032 36229032 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr13:36229032C>T c.8013C>T c.(8011-8013)ctC>ctT p.L2671L HNSC 13 36229091 36229091 + Missense_Mutation SNP A A T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr13:36229091A>T c.8072A>T c.(8071-8073)tAt>tTt p.Y2691F HNSC 13 36229804 36229804 + Silent SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 g.chr13:36229804C>T c.8217C>T c.(8215-8217)atC>atT p.I2739I HNSC 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr13:36241642C>T c.8533C>T c.(8533-8535)Cga>Tga p.R2845* KICH 13 35733452 35733452 + Silent SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr13:35733452A>G c.3144A>G c.(3142-3144)gtA>gtG p.V1048V KICH 13 36167554 36167554 + Silent SNP A A G TCGA-KL-8326-01A-11D-2310-10 TCGA-KL-8326-11A-01D-2310-10 g.chr13:36167554A>G c.7266A>G c.(7264-7266)agA>agG p.R2422R KIPAN 13 35644191 35644191 + Frame_Shift_Del DEL A A - TCGA-UZ-A9PU-01A-11D-A42J-10 TCGA-UZ-A9PU-10A-01D-A42M-10 g.chr13:35644191delA c.1386delA c.(1384-1386)ccafs p.P462fs KIPAN 13 35733452 35733452 + Silent SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr13:35733452A>G c.3144A>G c.(3142-3144)gtA>gtG p.V1048V KIPAN 13 35733740 35733740 + Silent SNP A A C TCGA-G7-7501-01A-11D-2201-08 TCGA-G7-7501-10A-01D-2201-08 g.chr13:35733740A>C c.3432A>C c.(3430-3432)acA>acC p.T1144T KIPAN 13 35738588 35738588 + Missense_Mutation SNP A A G TCGA-AK-3451-01A-02D-1251-10 TCGA-AK-3451-10A-01D-1251-10 g.chr13:35738588A>G c.4175A>G c.(4174-4176)aAc>aGc p.N1392S KIPAN 13 35738623 35738623 + Missense_Mutation SNP C C A TCGA-Y8-A8S1-01A-11D-A36X-10 TCGA-Y8-A8S1-10A-01D-A370-10 g.chr13:35738623C>A c.4210C>A c.(4210-4212)Ctc>Atc p.L1404I KIPAN 13 35747666 35747668 + In_Frame_Del DEL TCT TCT - TCGA-CJ-4897-01A-03D-1429-08 TCGA-CJ-4897-11A-01D-1429-08 g.chr13:35747666_35747668delTCT c.4489_4491delTCT c.(4489-4491)tctdel p.S1498del KIPAN 13 35758117 35758117 + Silent SNP G G T TCGA-B0-4838-01A-01D-1373-10 TCGA-B0-4838-11A-01D-1373-10 g.chr13:35758117G>T c.4836G>T c.(4834-4836)gtG>gtT p.V1612V KIPAN 13 35758158 35758158 + Missense_Mutation SNP T T G TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr13:35758158T>G c.4877T>G c.(4876-4878)tTc>tGc p.F1626C KIPAN 13 35770159 35770159 + Missense_Mutation SNP G G T TCGA-PJ-A5Z9-01A-11D-A28G-10 TCGA-PJ-A5Z9-10A-01D-A28G-10 g.chr13:35770159G>T c.5086G>T c.(5086-5088)Ggc>Tgc p.G1696C KIPAN 13 35770236 35770236 + Frame_Shift_Del DEL T T - TCGA-B2-4098-01A-02D-1386-10 TCGA-B2-4098-11A-01D-1251-10 g.chr13:35770236delT c.5163delT c.(5161-5163)aatfs p.N1721fs KIPAN 13 36046544 36046544 + Silent SNP G G T TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chr13:36046544G>T c.6456G>T c.(6454-6456)gtG>gtT p.V2152V KIPAN 13 36167554 36167554 + Silent SNP A A G TCGA-KL-8326-01A-11D-2310-10 TCGA-KL-8326-11A-01D-2310-10 g.chr13:36167554A>G c.7266A>G c.(7264-7266)agA>agG p.R2422R KIPAN 13 36220480 36220480 + Missense_Mutation SNP C C T TCGA-BP-4973-01A-01D-1462-08 TCGA-BP-4973-11A-01D-1462-08 g.chr13:36220480C>T c.7702C>T c.(7702-7704)Cac>Tac p.H2568Y KIPAN 13 36229093 36229093 + Missense_Mutation SNP A A G TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr13:36229093A>G c.8074A>G c.(8074-8076)Att>Gtt p.I2692V KIRC 13 35738588 35738588 + Missense_Mutation SNP A A G TCGA-AK-3451-01A-02D-1251-10 TCGA-AK-3451-10A-01D-1251-10 g.chr13:35738588A>G c.4175A>G c.(4174-4176)aAc>aGc p.N1392S KIRC 13 35747666 35747668 + In_Frame_Del DEL TCT TCT - TCGA-CJ-4897-01A-03D-1429-08 TCGA-CJ-4897-11A-01D-1429-08 g.chr13:35747666_35747668delTCT c.4489_4491delTCT c.(4489-4491)tctdel p.S1498del KIRC 13 35758117 35758117 + Silent SNP G G T TCGA-B0-4838-01A-01D-1373-10 TCGA-B0-4838-11A-01D-1373-10 g.chr13:35758117G>T c.4836G>T c.(4834-4836)gtG>gtT p.V1612V KIRC 13 35770236 35770236 + Frame_Shift_Del DEL T T - TCGA-B2-4098-01A-02D-1386-10 TCGA-B2-4098-11A-01D-1251-10 g.chr13:35770236delT c.5163delT c.(5161-5163)aatfs p.N1721fs KIRC 13 36046544 36046544 + Silent SNP G G T TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chr13:36046544G>T c.6456G>T c.(6454-6456)gtG>gtT p.V2152V KIRC 13 36220480 36220480 + Missense_Mutation SNP C C T TCGA-BP-4973-01A-01D-1462-08 TCGA-BP-4973-11A-01D-1462-08 g.chr13:36220480C>T c.7702C>T c.(7702-7704)Cac>Tac p.H2568Y KIRP 13 35644191 35644191 + Frame_Shift_Del DEL A A - TCGA-UZ-A9PU-01A-11D-A42J-10 TCGA-UZ-A9PU-10A-01D-A42M-10 g.chr13:35644191delA c.1386delA c.(1384-1386)ccafs p.P462fs KIRP 13 35733740 35733740 + Silent SNP A A C TCGA-G7-7501-01A-11D-2201-08 TCGA-G7-7501-10A-01D-2201-08 g.chr13:35733740A>C c.3432A>C c.(3430-3432)acA>acC p.T1144T KIRP 13 35738623 35738623 + Missense_Mutation SNP C C A TCGA-Y8-A8S1-01A-11D-A36X-10 TCGA-Y8-A8S1-10A-01D-A370-10 g.chr13:35738623C>A c.4210C>A c.(4210-4212)Ctc>Atc p.L1404I KIRP 13 35758158 35758158 + Missense_Mutation SNP T T G TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr13:35758158T>G c.4877T>G c.(4876-4878)tTc>tGc p.F1626C KIRP 13 35770159 35770159 + Missense_Mutation SNP G G T TCGA-PJ-A5Z9-01A-11D-A28G-10 TCGA-PJ-A5Z9-10A-01D-A28G-10 g.chr13:35770159G>T c.5086G>T c.(5086-5088)Ggc>Tgc p.G1696C KIRP 13 36229093 36229093 + Missense_Mutation SNP A A G TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr13:36229093A>G c.8074A>G c.(8074-8076)Att>Gtt p.I2692V LGG 13 35683539 35683539 + Missense_Mutation SNP T T G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 g.chr13:35683539T>G c.1793T>G c.(1792-1794)aTt>aGt p.I598S LGG 13 35685017 35685017 + Missense_Mutation SNP G G T TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 g.chr13:35685017G>T c.1904G>T c.(1903-1905)cGc>cTc p.R635L LGG 13 35738505 35738505 + Missense_Mutation SNP G G T TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 g.chr13:35738505G>T c.4092G>T c.(4090-4092)aaG>aaT p.K1364N LGG 13 35923243 35923243 + Splice_Site SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr13:35923243A>G c.e37-1 LGG 13 36223967 36223967 + Missense_Mutation SNP G G T TCGA-S9-A7IZ-01A-11D-A34A-08 TCGA-S9-A7IZ-10A-01D-A34A-08 g.chr13:36223967G>T c.7883G>T c.(7882-7884)aGa>aTa p.R2628I LGG 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:36241642C>T c.8533C>T c.(8533-8535)Cga>Tga p.R2845* LGG 13 36242525 36242525 + Silent SNP C C T TCGA-DU-7014-01A-11D-2024-08 TCGA-DU-7014-10A-01D-2024-08 g.chr13:36242525C>T c.8619C>T c.(8617-8619)gaC>gaT p.D2873D LIHC 13 35517180 35517180 + Missense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr13:35517180G>T c.223G>T c.(223-225)Gca>Tca p.A75S LIHC 13 35615180 35615180 + Missense_Mutation SNP A A T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr13:35615180A>T c.405A>T c.(403-405)gaA>gaT p.E135D LIHC 13 35624441 35624441 + Missense_Mutation SNP A A G TCGA-DD-AAVP-01A-11D-A40R-10 TCGA-DD-AAVP-10A-01D-A40U-10 g.chr13:35624441A>G c.881A>G c.(880-882)cAt>cGt p.H294R LIHC 13 35632909 35632909 + Missense_Mutation SNP T T G TCGA-DD-AADB-01A-11D-A40R-10 TCGA-DD-AADB-10A-01D-A40U-10 g.chr13:35632909T>G c.1148T>G c.(1147-1149)tTc>tGc p.F383C LIHC 13 35632969 35632969 + Missense_Mutation SNP T T G TCGA-2Y-A9H4-01A-11D-A382-10 TCGA-2Y-A9H4-10A-01D-A385-10 g.chr13:35632969T>G c.1208T>G c.(1207-1209)tTt>tGt p.F403C LIHC 13 35672500 35672500 + Silent SNP G G T TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chr13:35672500G>T c.1638G>T c.(1636-1638)ctG>ctT p.L546L LIHC 13 35692392 35692392 + Nonsense_Mutation SNP C C T TCGA-BW-A5NQ-01A-11D-A27I-10 TCGA-BW-A5NQ-10A-01D-A27I-10 g.chr13:35692392C>T c.2110C>T c.(2110-2112)Cag>Tag p.Q704* LIHC 13 35692394 35692394 + Missense_Mutation SNP G G C TCGA-BW-A5NQ-01A-11D-A27I-10 TCGA-BW-A5NQ-10A-01D-A27I-10 g.chr13:35692394G>C c.2112G>C c.(2110-2112)caG>caC p.Q704H LIHC 13 35729982 35729982 + Silent SNP T T A TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr13:35729982T>A c.2517T>A c.(2515-2517)atT>atA p.I839I LIHC 13 35731313 35731313 + Missense_Mutation SNP A A G TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr13:35731313A>G c.2750A>G c.(2749-2751)tAc>tGc p.Y917C LIHC 13 35731313 35731313 + Missense_Mutation SNP A A G TCGA-G3-A25U-01A-11D-A16V-10 TCGA-G3-A25U-10A-01D-A16V-10 g.chr13:35731313A>G c.2750A>G c.(2749-2751)tAc>tGc p.Y917C LIHC 13 35731383 35731383 + Silent SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr13:35731383T>C c.2820T>C c.(2818-2820)gaT>gaC p.D940D LIHC 13 35734090 35734090 + Missense_Mutation SNP T T G TCGA-BW-A5NQ-01A-11D-A27I-10 TCGA-BW-A5NQ-10A-01D-A27I-10 g.chr13:35734090T>G c.3782T>G c.(3781-3783)aTt>aGt p.I1261S LIHC 13 35756573 35756573 + Missense_Mutation SNP G G A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr13:35756573G>A c.4739G>A c.(4738-4740)cGt>cAt p.R1580H LIHC 13 35756573 35756573 + Missense_Mutation SNP G G A TCGA-G3-A25Z-01A-11D-A16V-10 TCGA-G3-A25Z-10A-01D-A16V-10 g.chr13:35756573G>A c.4739G>A c.(4738-4740)cGt>cAt p.R1580H LIHC 13 35756614 35756614 + Missense_Mutation SNP A A G TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr13:35756614A>G c.4780A>G c.(4780-4782)Agc>Ggc p.S1594G LIHC 13 35758164 35758164 + Missense_Mutation SNP C C A TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr13:35758164C>A c.4883C>A c.(4882-4884)gCc>gAc p.A1628D LIHC 13 35770382 35770382 + Missense_Mutation SNP C C A TCGA-DD-AADB-01A-11D-A40R-10 TCGA-DD-AADB-10A-01D-A40U-10 g.chr13:35770382C>A c.5309C>A c.(5308-5310)cCa>cAa p.P1770Q LIHC 13 35806707 35806707 + Silent SNP C C T TCGA-ED-A66Y-01A-11D-A30V-10 TCGA-ED-A66Y-10A-01D-A30V-10 g.chr13:35806707C>T c.5727C>T c.(5725-5727)ttC>ttT p.F1909F LIHC 13 35883674 35883674 + Missense_Mutation SNP A A T TCGA-2Y-A9H2-01A-12D-A382-10 TCGA-2Y-A9H2-10A-01D-A385-10 g.chr13:35883674A>T c.5848A>T c.(5848-5850)Aac>Tac p.N1950Y LIHC 13 35883725 35883726 + Missense_Mutation DNP GG GG TT TCGA-DD-AAD2-01A-11D-A40R-10 TCGA-DD-AAD2-10A-01D-A40U-10 g.chr13:35883725_35883726GG>TT c.5899_5900GG>TT c.(5899-5901)GGa>TTa p.G1967L LIHC 13 35923307 35923307 + Nonsense_Mutation SNP T T A TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr13:35923307T>A c.5966T>A c.(5965-5967)tTg>tAg p.L1989* LIHC 13 36046548 36046548 + Missense_Mutation SNP C C T TCGA-CC-5261-01A-01D-A12Z-10 TCGA-CC-5261-10A-01D-A12Z-10 g.chr13:36046548C>T c.6460C>T c.(6460-6462)Ctc>Ttc p.L2154F LIHC 13 36046571 36046571 + Silent SNP C C A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr13:36046571C>A c.6483C>A c.(6481-6483)atC>atA p.I2161I LIHC 13 36046629 36046629 + Missense_Mutation SNP G G A TCGA-DD-AACP-01A-11D-A40R-10 TCGA-DD-AACP-10A-01D-A40U-10 g.chr13:36046629G>A c.6541G>A c.(6541-6543)Gag>Aag p.E2181K LIHC 13 36046643 36046643 + Silent SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr13:36046643T>C c.6555T>C c.(6553-6555)gaT>gaC p.D2185D LIHC 13 36046654 36046654 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr13:36046654T>C c.6566T>C c.(6565-6567)tTc>tCc p.F2189S LIHC 13 36180583 36180583 + Silent SNP C C T TCGA-2Y-A9H4-01A-11D-A382-10 TCGA-2Y-A9H4-10A-01D-A385-10 g.chr13:36180583C>T c.7317C>T c.(7315-7317)taC>taT p.Y2439Y LIHC 13 36202217 36202217 + Splice_Site SNP G G T TCGA-UB-A7MF-01A-11D-A33K-10 TCGA-UB-A7MF-10A-01D-A33K-10 g.chr13:36202217G>T c.e49-1 LIHC 13 36229035 36229036 + Frame_Shift_Ins INS - - C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr13:36229035_36229036insC c.8016_8017insC c.(8017-8019)gacfs p.D2673fs LIHC 13 36229035 36229036 + Frame_Shift_Ins INS - - C TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr13:36229035_36229036insC c.8016_8017insC c.(8017-8019)gacfs p.D2673fs LIHC 13 36229065 36229065 + Silent SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr13:36229065T>C c.8046T>C c.(8044-8046)tgT>tgC p.C2682C LIHC 13 36239245 36239245 + Missense_Mutation SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr13:36239245G>A c.8323G>A c.(8323-8325)Gtc>Atc p.V2775I LIHC 13 36242504 36242505 + Splice_Site DNP GG GG TT TCGA-DD-AAE4-01A-11D-A40R-10 TCGA-DD-AAE4-10A-01D-A40U-10 g.chr13:36242504_36242505GG>TT c.8598_8599GG>TT c.(8596-8601)cgGGcc>cgTTcc p.A2867S LUAD 13 35517094 35517094 + Missense_Mutation SNP G G T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 g.chr13:35517094G>T c.137G>T c.(136-138)aGg>aTg p.R46M LUAD 13 35517201 35517201 + Nonsense_Mutation SNP C C T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr13:35517201C>T c.244C>T c.(244-246)Cag>Tag p.Q82* LUAD 13 35615154 35615154 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr13:35615154C>A c.379C>A c.(379-381)Cac>Aac p.H127N LUAD 13 35615209 35615209 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr13:35615209G>T c.434G>T c.(433-435)cGa>cTa p.R145L LUAD 13 35619537 35619537 + Splice_Site SNP C C T TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr13:35619537C>T c.722C>T c.(721-723)gCg>gTg p.A241V LUAD 13 35624523 35624523 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr13:35624523A>T c.963A>T c.(961-963)caA>caT p.Q321H LUAD 13 35630161 35630161 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr13:35630161C>T c.987C>T c.(985-987)agC>agT p.S329S LUAD 13 35630253 35630253 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr13:35630253T>G c.1079T>G c.(1078-1080)gTt>gGt p.V360G LUAD 13 35632943 35632943 + Missense_Mutation SNP T T G TCGA-55-8619-01A-11D-2393-08 TCGA-55-8619-10A-01D-2393-08 g.chr13:35632943T>G c.1182T>G c.(1180-1182)agT>agG p.S394R LUAD 13 35644083 35644083 + Frame_Shift_Del DEL G G - TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr13:35644083delG c.1278delG c.(1276-1278)ttgfs p.L426fs LUAD 13 35644115 35644115 + Missense_Mutation SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr13:35644115G>T c.1310G>T c.(1309-1311)gGg>gTg p.G437V LUAD 13 35672502 35672502 + Missense_Mutation SNP G G T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 g.chr13:35672502G>T c.1640G>T c.(1639-1641)gGt>gTt p.G547V LUAD 13 35683448 35683448 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr13:35683448A>G c.1702A>G c.(1702-1704)Aga>Gga p.R568G LUAD 13 35683457 35683457 + Silent SNP C C T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr13:35683457C>T c.1711C>T c.(1711-1713)Ctg>Ttg p.L571L LUAD 13 35683514 35683514 + Silent SNP T T C TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr13:35683514T>C c.1768T>C c.(1768-1770)Ttg>Ctg p.L590L LUAD 13 35684977 35684977 + Missense_Mutation SNP G G T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr13:35684977G>T c.1864G>T c.(1864-1866)Gct>Tct p.A622S LUAD 13 35685020 35685020 + Missense_Mutation SNP G G C TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr13:35685020G>C c.1907G>C c.(1906-1908)aGa>aCa p.R636T LUAD 13 35685096 35685096 + Silent SNP C C T TCGA-55-6975-01A-11D-1945-08 TCGA-55-6975-11A-01D-1945-08 g.chr13:35685096C>T c.1983C>T c.(1981-1983)ggC>ggT p.G661G LUAD 13 35731234 35731234 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr13:35731234G>T c.2671G>T c.(2671-2673)Gtg>Ttg p.V891L LUAD 13 35731265 35731265 + Missense_Mutation SNP A A G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 g.chr13:35731265A>G c.2702A>G c.(2701-2703)tAt>tGt p.Y901C LUAD 13 35733991 35733991 + Missense_Mutation SNP C C T TCGA-55-8512-01A-11D-2393-08 TCGA-55-8512-10A-01D-2393-08 g.chr13:35733991C>T c.3683C>T c.(3682-3684)tCa>tTa p.S1228L LUAD 13 35747693 35747693 + Nonsense_Mutation SNP G G T TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr13:35747693G>T c.4516G>T c.(4516-4518)Gaa>Taa p.E1506* LUAD 13 35751179 35751179 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 g.chr13:35751179C>A c.4601C>A c.(4600-4602)cCg>cAg p.P1534Q LUAD 13 35756583 35756583 + Missense_Mutation SNP A A T TCGA-97-7547-01A-11D-2036-08 TCGA-97-7547-10A-01D-2036-08 g.chr13:35756583A>T c.4749A>T c.(4747-4749)ttA>ttT p.L1583F LUAD 13 35782950 35782950 + Missense_Mutation SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 g.chr13:35782950C>A c.5480C>A c.(5479-5481)gCt>gAt p.A1827D LUAD 13 35923251 35923251 + Silent SNP G G C TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr13:35923251G>C c.5910G>C c.(5908-5910)ctG>ctC p.L1970L LUAD 13 35926326 35926326 + Missense_Mutation SNP A A C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr13:35926326A>C c.6045A>C c.(6043-6045)agA>agC p.R2015S LUAD 13 36006412 36006412 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr13:36006412G>C c.6186G>C c.(6184-6186)ttG>ttC p.L2062F LUAD 13 36046592 36046592 + Missense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr13:36046592G>T c.6504G>T c.(6502-6504)aaG>aaT p.K2168N LUAD 13 36046592 36046592 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr13:36046592G>T c.6504G>T c.(6502-6504)aaG>aaT p.K2168N LUAD 13 36046595 36046595 + Silent SNP G G T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr13:36046595G>T c.6507G>T c.(6505-6507)ggG>ggT p.G2169G LUAD 13 36046601 36046601 + Silent SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr13:36046601C>G c.6513C>G c.(6511-6513)ctC>ctG p.L2171L LUAD 13 36125086 36125086 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 g.chr13:36125086C>G c.6723C>G c.(6721-6723)ttC>ttG p.F2241L LUAD 13 36141048 36141048 + Missense_Mutation SNP C C T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr13:36141048C>T c.6929C>T c.(6928-6930)aCa>aTa p.T2310I LUAD 13 36141140 36141140 + Silent SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr13:36141140A>C c.7021A>C c.(7021-7023)Agg>Cgg p.R2341R LUAD 13 36158125 36158125 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 g.chr13:36158125A>G c.7126A>G c.(7126-7128)Aat>Gat p.N2376D LUAD 13 36167464 36167464 + Splice_Site SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr13:36167464G>T c.e47-1 LUAD 13 36167465 36167465 + Splice_Site SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chr13:36167465G>A c.7177G>A c.(7177-7179)Gaa>Aaa p.E2393K LUAD 13 36167537 36167537 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 g.chr13:36167537G>A c.7249G>A c.(7249-7251)Gtt>Att p.V2417I LUAD 13 36202279 36202279 + Missense_Mutation SNP A A T TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr13:36202279A>T c.7511A>T c.(7510-7512)tAt>tTt p.Y2504F LUAD 13 36228995 36228995 + Missense_Mutation SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr13:36228995A>G c.7976A>G c.(7975-7977)aAt>aGt p.N2659S LUAD 13 36229811 36229811 + Nonsense_Mutation SNP G G T TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr13:36229811G>T c.8224G>T c.(8224-8226)Gga>Tga p.G2742* LUAD 13 36241513 36241513 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr13:36241513G>T c.8404G>T c.(8404-8406)Ggc>Tgc p.G2802C LUAD 13 36241515 36241515 + Frame_Shift_Del DEL C C - TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr13:36241515delC c.8406delC c.(8404-8406)ggcfs p.G2802fs LUSC 13 35517158 35517158 + Silent SNP C C T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr13:35517158C>T c.201C>T c.(199-201)atC>atT p.I67I LUSC 13 35615106 35615106 + Missense_Mutation SNP A A G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr13:35615106A>G c.331A>G c.(331-333)Att>Gtt p.I111V LUSC 13 35644898 35644898 + Missense_Mutation SNP C C T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr13:35644898C>T c.1480C>T c.(1480-1482)Cat>Tat p.H494Y LUSC 13 35672485 35672485 + Missense_Mutation SNP G G T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr13:35672485G>T c.1623G>T c.(1621-1623)atG>atT p.M541I LUSC 13 35692566 35692566 + Missense_Mutation SNP A A C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr13:35692566A>C c.2198A>C c.(2197-2199)cAc>cCc p.H733P LUSC 13 35733368 35733368 + Silent SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr13:35733368C>T c.3060C>T c.(3058-3060)gtC>gtT p.V1020V LUSC 13 35769999 35769999 + Splice_Site SNP A A G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr13:35769999A>G c.e31-1 LUSC 13 35770090 35770090 + Missense_Mutation SNP A A G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr13:35770090A>G c.5017A>G c.(5017-5019)Aca>Gca p.T1673A LUSC 13 35770415 35770415 + Missense_Mutation SNP C C A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 g.chr13:35770415C>A c.5342C>A c.(5341-5343)cCt>cAt p.P1781H LUSC 13 35864535 35864535 + Missense_Mutation SNP G G T TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr13:35864535G>T c.5786G>T c.(5785-5787)tGt>tTt p.C1929F LUSC 13 35864575 35864575 + Silent SNP G G T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr13:35864575G>T c.5826G>T c.(5824-5826)ctG>ctT p.L1942L LUSC 13 35923291 35923291 + Nonsense_Mutation SNP G G T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr13:35923291G>T c.5950G>T c.(5950-5952)Gaa>Taa p.E1984* LUSC 13 36026233 36026233 + Silent SNP G G T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr13:36026233G>T c.6309G>T c.(6307-6309)acG>acT p.T2103T LUSC 13 36124678 36124678 + Nonsense_Mutation SNP C C G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr13:36124678C>G c.6650C>G c.(6649-6651)tCa>tGa p.S2217* LUSC 13 36141107 36141107 + Missense_Mutation SNP G G A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr13:36141107G>A c.6988G>A c.(6988-6990)Gaa>Aaa p.E2330K LUSC 13 36158054 36158055 + Missense_Mutation DNP CC CC TT TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr13:36158054_36158055CC>TT c.7055_7056CC>TT c.(7054-7056)cCC>cTT p.P2352L OV 13 35615220 35615220 + Missense_Mutation SNP C C T TCGA-24-1466-01A-01W-0545-08 TCGA-24-1466-10A-01W-0545-08 g.chr13:35615220C>T c.445C>T c.(445-447)Cgg>Tgg p.R149W OV 13 35615294 35615294 + Missense_Mutation SNP G G A TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 g.chr13:35615294G>A c.519G>A c.(517-519)atG>atA p.M173I OV 13 35622725 35622725 + Missense_Mutation SNP A A C TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 g.chr13:35622725A>C c.749A>C c.(748-750)aAg>aCg p.K250T OV 13 35630261 35630261 + Missense_Mutation SNP A A T TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 g.chr13:35630261A>T c.1087A>T c.(1087-1089)Aat>Tat p.N363Y OV 13 35685048 35685048 + Silent SNP C C T TCGA-24-1564-01A-01W-0551-08 TCGA-24-1564-10A-01W-0551-08 g.chr13:35685048C>T c.1935C>T c.(1933-1935)caC>caT p.H645H OV 13 35735998 35735998 + Missense_Mutation SNP C C T TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 g.chr13:35735998C>T c.3973C>T c.(3973-3975)Cgg>Tgg p.R1325W OV 13 35738551 35738567 + Frame_Shift_Del DEL CATAACACAATTCACCT CATAACACAATTCACCT - TCGA-13-0923-01A-01W-0420-08 TCGA-13-0923-10A-01D-0399-08 g.chr13:35738551_35738567delCATAACACAATTCACCT c.4138_4154delCATAACACAATTCACCT c.(4138-4155)cataacacaattcacctcfs p.HNTIHL1380fs OV 13 35770278 35770278 + Silent SNP T T C TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 g.chr13:35770278T>C c.5205T>C c.(5203-5205)atT>atC p.I1735I OV 13 36124684 36124684 + Missense_Mutation SNP G G C TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 g.chr13:36124684G>C c.6656G>C c.(6655-6657)cGt>cCt p.R2219P PAAD 13 35615281 35615281 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:35615281C>A c.506C>A c.(505-507)gCt>gAt p.A169D PAAD 13 35630181 35630181 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:35630181G>A c.1007G>A c.(1006-1008)cGa>cAa p.R336Q PAAD 13 35733662 35733663 + Frame_Shift_Ins INS - - A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chr13:35733662_35733663insA c.3354_3355insA c.(3355-3357)aaafs p.K1119fs PAAD 13 35733662 35733663 + Frame_Shift_Ins INS - - A TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr13:35733662_35733663insA c.3354_3355insA c.(3355-3357)aaafs p.K1119fs PAAD 13 36220438 36220438 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:36220438C>T c.7660C>T c.(7660-7662)Cag>Tag p.Q2554* PCPG 13 35644944 35644944 + Missense_Mutation SNP T T C TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 g.chr13:35644944T>C c.1526T>C c.(1525-1527)tTg>tCg p.L509S PCPG 13 35692572 35692572 + Frame_Shift_Del DEL C C - TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 g.chr13:35692572delC c.2204delC c.(2203-2205)gccfs p.A735fs PRAD 13 35733542 35733542 + Silent SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 g.chr13:35733542G>A c.3234G>A c.(3232-3234)ccG>ccA p.P1078P PRAD 13 35770248 35770248 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr13:35770248G>A c.5175G>A c.(5173-5175)acG>acA p.T1725T PRAD 13 36158143 36158143 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 g.chr13:36158143G>A c.7144G>A c.(7144-7146)Gca>Aca p.A2382T READ 13 35615220 35615220 + Silent SNP C C A TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr13:35615220C>A c.445C>A c.(445-447)Cgg>Agg p.R149R READ 13 35733400 35733401 + Frame_Shift_Ins INS - - A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr13:35733400_35733401insA c.3092_3093insA c.(3091-3096)acaaaafs p.TK1031fs READ 13 35734058 35734058 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:35734058A>C c.3750A>C c.(3748-3750)aaA>aaC p.K1250N READ 13 35747658 35747658 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr13:35747658G>A c.4481G>A c.(4480-4482)gGa>gAa p.G1494E READ 13 35758155 35758155 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:35758155G>T c.4874G>T c.(4873-4875)gGa>gTa p.G1625V READ 13 35770201 35770201 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:35770201G>A c.5128G>A c.(5128-5130)Gaa>Aaa p.E1710K READ 13 35770298 35770298 + Missense_Mutation SNP A A T TCGA-AG-A00H-01A-01W-A00E-09 TCGA-AG-A00H-10A-01W-A00E-09 g.chr13:35770298A>T c.5225A>T c.(5224-5226)aAt>aTt p.N1742I READ 13 36006464 36006464 + Nonsense_Mutation SNP C C T TCGA-AG-3878-01A-02W-0899-10 TCGA-AG-3878-10A-01W-0901-10 g.chr13:36006464C>T c.6238C>T c.(6238-6240)Cga>Tga p.R2080* READ 13 36006473 36006473 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:36006473C>T c.6247C>T c.(6247-6249)Cgc>Tgc p.R2083C READ 13 36223948 36223948 + Nonsense_Mutation SNP C C T TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr13:36223948C>T c.7864C>T c.(7864-7866)Cga>Tga p.R2622* READ 13 36229754 36229754 + Missense_Mutation SNP G G A TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr13:36229754G>A c.8167G>A c.(8167-8169)Gtc>Atc p.V2723I SARC 13 35733976 35733976 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr13:35733976G>T c.3668G>T c.(3667-3669)aGa>aTa p.R1223I SARC 13 36223811 36223811 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr13:36223811C>T c.7727C>T c.(7726-7728)cCg>cTg p.P2576L SARC 13 36223825 36223825 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr13:36223825G>A c.7741G>A c.(7741-7743)Gat>Aat p.D2581N SARC 13 36223860 36223860 + Silent SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 g.chr13:36223860G>A c.7776G>A c.(7774-7776)aaG>aaA p.K2592K SARC 13 36241588 36241588 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 g.chr13:36241588C>T c.8479C>T c.(8479-8481)Cgc>Tgc p.R2827C SARC 13 36242619 36242619 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 g.chr13:36242619G>T c.8713G>T c.(8713-8715)Gct>Tct p.A2905S SKCM 13 35517126 35517126 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr13:35517126C>T c.169C>T c.(169-171)Ccc>Tcc p.P57S SKCM 13 35615076 35615076 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr13:35615076G>A c.301G>A c.(301-303)Ggt>Agt p.G101S SKCM 13 35615185 35615185 + Nonsense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr13:35615185G>A c.410G>A c.(409-411)tGg>tAg p.W137* SKCM 13 35615209 35615209 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr13:35615209G>A c.434G>A c.(433-435)cGa>cAa p.R145Q SKCM 13 35615209 35615209 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr13:35615209G>A c.434G>A c.(433-435)cGa>cAa p.R145Q SKCM 13 35619123 35619123 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr13:35619123G>A c.566G>A c.(565-567)aGc>aAc p.S189N SKCM 13 35619164 35619164 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr13:35619164C>T c.607C>T c.(607-609)Cga>Tga p.R203* SKCM 13 35619167 35619167 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:35619167G>A c.610G>A c.(610-612)Gga>Aga p.G204R SKCM 13 35619181 35619181 + Missense_Mutation SNP C C G TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 g.chr13:35619181C>G c.624C>G c.(622-624)atC>atG p.I208M SKCM 13 35619500 35619500 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr13:35619500C>T c.685C>T c.(685-687)Cct>Tct p.P229S SKCM 13 35624410 35624410 + Missense_Mutation SNP C C T TCGA-D3-A51N-06A-11D-A25O-08 TCGA-D3-A51N-10A-01D-A25O-08 g.chr13:35624410C>T c.850C>T c.(850-852)Cgt>Tgt p.R284C SKCM 13 35624492 35624492 + Missense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr13:35624492G>A c.932G>A c.(931-933)gGt>gAt p.G311D SKCM 13 35630155 35630155 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr13:35630155G>A c.981G>A c.(979-981)atG>atA p.M327I SKCM 13 35630155 35630155 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr13:35630155G>A c.981G>A c.(979-981)atG>atA p.M327I SKCM 13 35630184 35630184 + Nonsense_Mutation SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr13:35630184G>A c.1010G>A c.(1009-1011)tGg>tAg p.W337* SKCM 13 35644078 35644078 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr13:35644078C>T c.1273C>T c.(1273-1275)Cat>Tat p.H425Y SKCM 13 35644168 35644168 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:35644168C>T c.1363C>T c.(1363-1365)Cag>Tag p.Q455* SKCM 13 35644863 35644863 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr13:35644863A>T c.1445A>T c.(1444-1446)aAa>aTa p.K482I SKCM 13 35644898 35644898 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:35644898C>T c.1480C>T c.(1480-1482)Cat>Tat p.H494Y SKCM 13 35644928 35644928 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr13:35644928C>T c.1510C>T c.(1510-1512)Cca>Tca p.P504S SKCM 13 35684971 35684971 + Missense_Mutation SNP T T A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr13:35684971T>A c.1858T>A c.(1858-1860)Ttg>Atg p.L620M SKCM 13 35692526 35692526 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-11A-11D-A23B-08 g.chr13:35692526C>T c.2158C>T c.(2158-2160)Cat>Tat p.H720Y SKCM 13 35716405 35716405 + Splice_Site SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr13:35716405G>A c.e18-1 SKCM 13 35716442 35716442 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:35716442C>T c.2373C>T c.(2371-2373)ttC>ttT p.F791F SKCM 13 35716467 35716467 + Silent SNP T T C TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr13:35716467T>C c.2398T>C c.(2398-2400)Ttg>Ctg p.L800L SKCM 13 35716493 35716493 + Silent SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr13:35716493C>G c.2424C>G c.(2422-2424)acC>acG p.T808T SKCM 13 35731359 35731359 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr13:35731359G>A c.2796G>A c.(2794-2796)tgG>tgA p.W932* SKCM 13 35733271 35733271 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr13:35733271C>T c.2963C>T c.(2962-2964)tCa>tTa p.S988L SKCM 13 35733303 35733303 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr13:35733303G>A c.2995G>A c.(2995-2997)Gaa>Aaa p.E999K SKCM 13 35733382 35733382 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 g.chr13:35733382G>A c.3074G>A c.(3073-3075)cGa>cAa p.R1025Q SKCM 13 35733681 35733681 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr13:35733681G>A c.3373G>A c.(3373-3375)Gat>Aat p.D1125N SKCM 13 35733690 35733690 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr13:35733690C>T c.3382C>T c.(3382-3384)Cca>Tca p.P1128S SKCM 13 35733730 35733730 + Missense_Mutation SNP A A G TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr13:35733730A>G c.3422A>G c.(3421-3423)aAt>aGt p.N1141S SKCM 13 35733774 35733774 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr13:35733774G>A c.3466G>A c.(3466-3468)Gaa>Aaa p.E1156K SKCM 13 35733844 35733844 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr13:35733844G>A c.3536G>A c.(3535-3537)gGt>gAt p.G1179D SKCM 13 35733926 35733926 + Silent SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr13:35733926A>G c.3618A>G c.(3616-3618)aaA>aaG p.K1206K SKCM 13 35733949 35733949 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr13:35733949C>T c.3641C>T c.(3640-3642)tCa>tTa p.S1214L SKCM 13 35735898 35735898 + Silent SNP T T C TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr13:35735898T>C c.3873T>C c.(3871-3873)ggT>ggC p.G1291G SKCM 13 35738574 35738574 + Silent SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr13:35738574C>T c.4161C>T c.(4159-4161)tcC>tcT p.S1387S SKCM 13 35745412 35745412 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:35745412G>A c.4246G>A c.(4246-4248)Gaa>Aaa p.E1416K SKCM 13 35745584 35745584 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:35745584G>A c.4418G>A c.(4417-4419)aGa>aAa p.R1473K SKCM 13 35747690 35747690 + Nonsense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr13:35747690C>T c.4513C>T c.(4513-4515)Cag>Tag p.Q1505* SKCM 13 35751166 35751166 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr13:35751166C>T c.4588C>T c.(4588-4590)Cct>Tct p.P1530S SKCM 13 35756497 35756497 + Splice_Site SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr13:35756497G>A c.4663G>A c.(4663-4665)Gat>Aat p.D1555N SKCM 13 35756549 35756549 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr13:35756549C>T c.4715C>T c.(4714-4716)tCg>tTg p.S1572L SKCM 13 35756549 35756549 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:35756549C>T c.4715C>T c.(4714-4716)tCg>tTg p.S1572L SKCM 13 35756556 35756556 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr13:35756556G>A c.4722G>A c.(4720-4722)ctG>ctA p.L1574L SKCM 13 35756611 35756611 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:35756611G>A c.4777G>A c.(4777-4779)Gga>Aga p.G1593R SKCM 13 35758160 35758160 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr13:35758160C>T c.4879C>T c.(4879-4881)Ctt>Ttt p.L1627F SKCM 13 35770018 35770018 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr13:35770018C>T c.4945C>T c.(4945-4947)Cca>Tca p.P1649S SKCM 13 35770382 35770382 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr13:35770382C>T c.5309C>T c.(5308-5310)cCa>cTa p.P1770L SKCM 13 35883726 35883726 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr13:35883726G>A c.5900G>A c.(5899-5901)gGa>gAa p.G1967E SKCM 13 35926330 35926330 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr13:35926330G>A c.6049G>A c.(6049-6051)Gaa>Aaa p.E2017K SKCM 13 36006465 36006465 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr13:36006465G>A c.6239G>A c.(6238-6240)cGa>cAa p.R2080Q SKCM 13 36006489 36006489 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr13:36006489C>T c.6263C>T c.(6262-6264)tCc>tTc p.S2088F SKCM 13 36026303 36026303 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr13:36026303G>A c.6379G>A c.(6379-6381)Gaa>Aaa p.E2127K SKCM 13 36026318 36026318 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr13:36026318G>A c.6394G>A c.(6394-6396)Gga>Aga p.G2132R SKCM 13 36046603 36046604 + Missense_Mutation DNP CC CC TT TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr13:36046603_36046604CC>TT c.6515_6516CC>TT c.(6514-6516)tCC>tTT p.S2172F SKCM 13 36046664 36046664 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr13:36046664C>T c.6576C>T c.(6574-6576)atC>atT p.I2192I SKCM 13 36124641 36124641 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr13:36124641G>A c.6613G>A c.(6613-6615)Gga>Aga p.G2205R SKCM 13 36124729 36124729 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr13:36124729G>A c.6701G>A c.(6700-6702)cGa>cAa p.R2234Q SKCM 13 36125086 36125086 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr13:36125086C>T c.6723C>T c.(6721-6723)ttC>ttT p.F2241F SKCM 13 36125135 36125135 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr13:36125135G>A c.6772G>A c.(6772-6774)Gga>Aga p.G2258R SKCM 13 36129141 36129141 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:36129141C>T c.6824C>T c.(6823-6825)aCt>aTt p.T2275I SKCM 13 36158062 36158062 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr13:36158062G>A c.7063G>A c.(7063-7065)Gct>Act p.A2355T SKCM 13 36158063 36158063 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:36158063C>T c.7064C>T c.(7063-7065)gCt>gTt p.A2355V SKCM 13 36158098 36158098 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr13:36158098G>A c.7099G>A c.(7099-7101)Gat>Aat p.D2367N SKCM 13 36167498 36167498 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr13:36167498G>A c.7210G>A c.(7210-7212)Gat>Aat p.D2404N SKCM 13 36167502 36167502 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr13:36167502G>A c.7214G>A c.(7213-7215)gGa>gAa p.G2405E SKCM 13 36180711 36180711 + Missense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr13:36180711G>A c.7445G>A c.(7444-7446)aGg>aAg p.R2482K SKCM 13 36202305 36202305 + Missense_Mutation SNP C C T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr13:36202305C>T c.7537C>T c.(7537-7539)Cgt>Tgt p.R2513C SKCM 13 36220454 36220454 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr13:36220454C>T c.7676C>T c.(7675-7677)cCa>cTa p.P2559L SKCM 13 36223797 36223797 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr13:36223797C>T c.7713C>T c.(7711-7713)ttC>ttT p.F2571F SKCM 13 36223862 36223862 + Missense_Mutation SNP T T C TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr13:36223862T>C c.7778T>C c.(7777-7779)tTt>tCt p.F2593S SKCM 13 36223864 36223864 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr13:36223864C>T c.7780C>T c.(7780-7782)Cct>Tct p.P2594S SKCM 13 36229105 36229105 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 g.chr13:36229105G>A c.8086G>A c.(8086-8088)Gga>Aga p.G2696R SKCM 13 36229804 36229804 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr13:36229804C>T c.8217C>T c.(8215-8217)atC>atT p.I2739I SKCM 13 36241521 36241521 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr13:36241521C>T c.8412C>T c.(8410-8412)tgC>tgT p.C2804C SKCM 13 36241522 36241522 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr13:36241522C>T c.8413C>T c.(8413-8415)Ctt>Ttt p.L2805F SKCM 13 36241637 36241637 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:36241637G>A c.8528G>A c.(8527-8529)cGa>cAa p.R2843Q SKCM 13 36241668 36241668 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr13:36241668G>A c.8559G>A c.(8557-8559)ggG>ggA p.G2853G SKCM 13 36242548 36242548 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr13:36242548G>A c.8642G>A c.(8641-8643)gGg>gAg p.G2881E SKCM 13 36242559 36242559 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:36242559G>A c.8653G>A c.(8653-8655)Gta>Ata p.V2885I SKCM 13 36242646 36242646 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr13:36242646C>T c.8740C>T c.(8740-8742)Cat>Tat p.H2914Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 13 35733888 35733888 single base substitution G A missense_variant V1194I 3580G>A BLCA-CN 13 35630193 35630193 single base substitution G A missense_variant S340N 1019G>A BLCA-CN 13 35632912 35632912 single base substitution G A missense_variant C384Y 1151G>A BLCA-CN 13 35632923 35632923 single base substitution G C missense_variant G388R 1162G>C BLCA-CN 13 36049970 36049970 single base substitution C T intron_variant BLCA-CN 13 36049970 36049970 single base substitution C T upstream_gene_variant BLCA-US 13 35619479 35619479 single base substitution C T stop_gained Q222* 664C>T BLCA-US 13 35731303 35731303 single base substitution G T stop_gained E914* 2740G>T BLCA-US 13 35923273 35923273 single base substitution A G missense_variant I1975V 5923A>G BLCA-US 13 35923273 35923273 single base substitution A G missense_variant I1978V 5932A>G BLCA-US 13 35926317 35926317 single base substitution T C synonymous_variant A2009A 6027T>C BLCA-US 13 35926317 35926317 single base substitution T C synonymous_variant A2012A 6036T>C BLCA-US 13 36026232 36026232 single base substitution C T missense_variant T2100M 6299C>T BLCA-US 13 36026232 36026232 single base substitution C T missense_variant T2103M 6308C>T BLCA-US 13 36049441 36049441 single base substitution A G intron_variant BLCA-US 13 36049441 36049441 single base substitution A G upstream_gene_variant BLCA-US 13 36229746 36229746 single base substitution G A stop_gained W2717* 8150G>A BLCA-US 13 36229746 36229746 single base substitution G A stop_gained W2720* 8159G>A BLCA-US 13 36229746 36229746 single base substitution G A stop_gained W298* 893G>A BLCA-US 13 36229746 36229746 single base substitution G A stop_gained W513* 1538G>A BOCA-FR 13 35589814 35589814 single base substitution A T intron_variant BOCA-FR 13 35625882 35625882 single base substitution C G intron_variant BOCA-FR 13 35650621 35650621 single base substitution A G intron_variant BOCA-FR 13 35667612 35667612 single base substitution C T intron_variant BOCA-FR 13 35710420 35710420 single base substitution A G intron_variant BOCA-FR 13 35962310 35962310 single base substitution A G intron_variant BOCA-FR 13 36182383 36182383 single base substitution C A intron_variant BOCA-UK 13 36049648 36049648 single base substitution G A intron_variant BOCA-UK 13 36049648 36049648 single base substitution G A upstream_gene_variant BRCA-EU 13 35512113 35512113 single base substitution C T upstream_gene_variant BRCA-EU 13 35512139 35512150 deletion of <=200bp ACAGTTTGAAAA - upstream_gene_variant BRCA-EU 13 35513763 35513763 single base substitution C T upstream_gene_variant BRCA-EU 13 35513814 35513814 single base substitution C A upstream_gene_variant BRCA-EU 13 35514718 35514718 single base substitution T C upstream_gene_variant BRCA-EU 13 35515267 35515317 deletion of <=200bp TTCATTTGAGAGGACAATTAAAACGATCTGAATATACCTCAAGATACCTAA - upstream_gene_variant BRCA-EU 13 35515704 35515704 single base substitution A G upstream_gene_variant BRCA-EU 13 35515877 35515877 single base substitution T G upstream_gene_variant BRCA-EU 13 35517127 35517127 single base substitution C G missense_variant P57R 170C>G BRCA-EU 13 35518440 35518440 single base substitution C G intron_variant BRCA-EU 13 35519075 35519075 single base substitution T C intron_variant BRCA-EU 13 35519422 35519422 single base substitution A T intron_variant BRCA-EU 13 35519463 35519463 single base substitution A C intron_variant BRCA-EU 13 35521034 35521034 single base substitution G T intron_variant BRCA-EU 13 35522207 35522207 single base substitution G A intron_variant BRCA-EU 13 35522659 35522659 single base substitution C T intron_variant BRCA-EU 13 35523293 35523293 single base substitution G A intron_variant BRCA-EU 13 35525784 35525784 single base substitution T C intron_variant BRCA-EU 13 35526471 35526471 single base substitution C T intron_variant BRCA-EU 13 35526569 35526569 single base substitution G A intron_variant BRCA-EU 13 35527005 35527005 single base substitution G T intron_variant BRCA-EU 13 35527486 35527486 single base substitution A T intron_variant BRCA-EU 13 35527511 35527511 single base substitution G A intron_variant BRCA-EU 13 35529920 35529920 single base substitution T G intron_variant BRCA-EU 13 35530417 35530417 single base substitution C G intron_variant BRCA-EU 13 35531689 35531689 deletion of <=200bp T - intron_variant BRCA-EU 13 35532005 35532005 single base substitution C G intron_variant BRCA-EU 13 35532380 35532380 single base substitution G C intron_variant BRCA-EU 13 35532661 35532661 single base substitution G A intron_variant BRCA-EU 13 35533393 35533393 single base substitution T G intron_variant BRCA-EU 13 35534161 35534161 single base substitution C T intron_variant BRCA-EU 13 35535854 35535854 single base substitution G A intron_variant BRCA-EU 13 35538203 35538203 single base substitution C T intron_variant BRCA-EU 13 35538276 35538276 single base substitution C G intron_variant BRCA-EU 13 35538510 35538510 single base substitution A G intron_variant BRCA-EU 13 35539098 35539098 single base substitution G T intron_variant BRCA-EU 13 35540248 35540248 single base substitution G A intron_variant BRCA-EU 13 35542198 35542198 single base substitution A G intron_variant BRCA-EU 13 35542913 35542913 single base substitution A T intron_variant BRCA-EU 13 35542920 35542920 single base substitution G C intron_variant BRCA-EU 13 35543029 35543029 single base substitution T G intron_variant BRCA-EU 13 35544350 35544350 single base substitution C T intron_variant BRCA-EU 13 35545012 35545012 single base substitution C T intron_variant BRCA-EU 13 35545180 35545180 single base substitution G C intron_variant BRCA-EU 13 35545799 35545799 insertion of <=200bp - T intron_variant BRCA-EU 13 35546103 35546103 single base substitution C G intron_variant BRCA-EU 13 35546690 35546690 single base substitution G A intron_variant BRCA-EU 13 35546811 35546811 single base substitution C T intron_variant BRCA-EU 13 35547003 35547003 single base substitution C T intron_variant BRCA-EU 13 35547953 35547953 single base substitution G A intron_variant BRCA-EU 13 35548296 35548296 single base substitution C A intron_variant BRCA-EU 13 35548731 35548731 single base substitution C T intron_variant BRCA-EU 13 35549228 35549228 single base substitution G A intron_variant BRCA-EU 13 35552172 35552172 single base substitution A T intron_variant BRCA-EU 13 35556972 35556972 deletion of <=200bp T - intron_variant BRCA-EU 13 35557303 35557303 single base substitution C A intron_variant BRCA-EU 13 35558105 35558105 single base substitution A T intron_variant BRCA-EU 13 35558849 35558849 single base substitution G C intron_variant BRCA-EU 13 35559327 35559327 single base substitution C T intron_variant BRCA-EU 13 35561546 35561546 single base substitution C G intron_variant BRCA-EU 13 35561703 35561703 single base substitution C A intron_variant BRCA-EU 13 35561722 35561722 single base substitution G A intron_variant BRCA-EU 13 35562624 35562624 single base substitution C G intron_variant BRCA-EU 13 35566013 35566013 single base substitution T A intron_variant BRCA-EU 13 35567335 35567335 single base substitution C T intron_variant BRCA-EU 13 35568836 35568836 single base substitution T A intron_variant BRCA-EU 13 35568901 35568901 single base substitution G A intron_variant BRCA-EU 13 35569752 35569752 deletion of <=200bp A - intron_variant BRCA-EU 13 35569854 35569854 single base substitution C T intron_variant BRCA-EU 13 35570061 35570061 single base substitution G A intron_variant BRCA-EU 13 35572160 35572160 single base substitution G A intron_variant BRCA-EU 13 35574137 35574137 single base substitution T C intron_variant BRCA-EU 13 35574821 35574821 single base substitution T C intron_variant BRCA-EU 13 35576796 35576796 single base substitution A G intron_variant BRCA-EU 13 35576909 35576909 single base substitution G A intron_variant BRCA-EU 13 35579354 35579354 single base substitution T G intron_variant BRCA-EU 13 35579629 35579629 single base substitution A T intron_variant BRCA-EU 13 35580153 35580153 single base substitution C G intron_variant BRCA-EU 13 35580335 35580335 deletion of <=200bp T - intron_variant BRCA-EU 13 35580915 35580915 single base substitution C T intron_variant BRCA-EU 13 35581466 35581466 insertion of <=200bp - T intron_variant BRCA-EU 13 35581797 35581797 deletion of <=200bp T - intron_variant BRCA-EU 13 35583830 35583830 single base substitution G T intron_variant BRCA-EU 13 35584322 35584322 single base substitution G A intron_variant BRCA-EU 13 35584840 35584840 single base substitution A T intron_variant BRCA-EU 13 35586029 35586029 single base substitution C A intron_variant BRCA-EU 13 35587064 35587064 single base substitution C T intron_variant BRCA-EU 13 35588465 35588465 insertion of <=200bp - T intron_variant BRCA-EU 13 35589558 35589558 single base substitution G T intron_variant BRCA-EU 13 35589823 35589823 single base substitution A T intron_variant BRCA-EU 13 35590327 35590327 single base substitution C G intron_variant BRCA-EU 13 35590488 35590488 single base substitution T A intron_variant BRCA-EU 13 35591241 35591241 single base substitution C T intron_variant BRCA-EU 13 35591322 35591322 deletion of <=200bp T - intron_variant BRCA-EU 13 35592249 35592249 single base substitution T C intron_variant BRCA-EU 13 35593425 35593425 deletion of <=200bp T - intron_variant BRCA-EU 13 35594718 35594718 single base substitution C G intron_variant BRCA-EU 13 35594737 35594737 single base substitution C T intron_variant BRCA-EU 13 35595248 35595248 deletion of <=200bp T - intron_variant BRCA-EU 13 35595987 35595987 single base substitution G A intron_variant BRCA-EU 13 35598428 35598428 single base substitution C T intron_variant BRCA-EU 13 35599200 35599200 single base substitution C G intron_variant BRCA-EU 13 35599360 35599360 single base substitution G C intron_variant BRCA-EU 13 35599677 35599677 single base substitution A G intron_variant BRCA-EU 13 35599852 35599852 single base substitution C T intron_variant BRCA-EU 13 35600500 35600500 single base substitution T C intron_variant BRCA-EU 13 35603791 35603791 single base substitution C T intron_variant BRCA-EU 13 35606255 35606255 single base substitution C T intron_variant BRCA-EU 13 35607300 35607300 single base substitution C G intron_variant BRCA-EU 13 35608249 35608249 single base substitution C T intron_variant BRCA-EU 13 35615136 35615136 single base substitution A G missense_variant M121V 361A>G BRCA-EU 13 35616206 35616206 single base substitution C G intron_variant BRCA-EU 13 35617155 35617155 deletion of <=200bp A - intron_variant BRCA-EU 13 35618954 35618954 single base substitution T C intron_variant BRCA-EU 13 35622562 35622562 single base substitution C G intron_variant BRCA-EU 13 35624090 35624090 single base substitution A G intron_variant BRCA-EU 13 35624614 35624614 single base substitution C G intron_variant BRCA-EU 13 35624862 35624862 single base substitution T A intron_variant BRCA-EU 13 35625527 35625527 single base substitution G T intron_variant BRCA-EU 13 35626898 35626898 single base substitution G C intron_variant BRCA-EU 13 35627719 35627719 single base substitution A G intron_variant BRCA-EU 13 35628454 35628454 single base substitution T C intron_variant BRCA-EU 13 35629571 35629571 single base substitution A C intron_variant BRCA-EU 13 35630544 35630544 deletion of <=200bp A - intron_variant BRCA-EU 13 35630847 35630847 single base substitution G C intron_variant BRCA-EU 13 35634000 35634000 single base substitution A G intron_variant BRCA-EU 13 35635862 35635862 single base substitution C G intron_variant BRCA-EU 13 35640867 35640867 single base substitution C A intron_variant BRCA-EU 13 35640867 35640867 single base substitution C A upstream_gene_variant BRCA-EU 13 35641883 35641883 single base substitution A T intron_variant BRCA-EU 13 35641883 35641883 single base substitution A T upstream_gene_variant BRCA-EU 13 35642180 35642197 deletion of <=200bp ATATATAAATTTAAAGAC - intron_variant BRCA-EU 13 35642180 35642197 deletion of <=200bp ATATATAAATTTAAAGAC - upstream_gene_variant BRCA-EU 13 35642976 35642976 single base substitution C T intron_variant BRCA-EU 13 35642976 35642976 single base substitution C T upstream_gene_variant BRCA-EU 13 35645599 35645599 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 35645599 35645599 deletion of <=200bp A - intron_variant BRCA-EU 13 35648732 35648732 single base substitution C T downstream_gene_variant BRCA-EU 13 35648732 35648732 single base substitution C T intron_variant BRCA-EU 13 35649744 35649744 single base substitution C T downstream_gene_variant BRCA-EU 13 35649744 35649744 single base substitution C T intron_variant BRCA-EU 13 35654369 35654369 single base substitution T C intron_variant BRCA-EU 13 35655279 35655279 single base substitution C T intron_variant BRCA-EU 13 35655570 35655570 single base substitution C T intron_variant BRCA-EU 13 35656137 35656137 single base substitution T C intron_variant BRCA-EU 13 35656782 35656782 single base substitution G C intron_variant BRCA-EU 13 35657322 35657322 single base substitution C T intron_variant BRCA-EU 13 35658192 35658192 single base substitution G A intron_variant BRCA-EU 13 35658739 35658739 single base substitution T G intron_variant BRCA-EU 13 35659698 35659698 single base substitution T C intron_variant BRCA-EU 13 35659978 35659978 single base substitution C G intron_variant BRCA-EU 13 35661605 35661605 single base substitution C G intron_variant BRCA-EU 13 35662251 35662251 single base substitution G T intron_variant BRCA-EU 13 35664341 35664341 single base substitution C T intron_variant BRCA-EU 13 35665243 35665243 single base substitution T A intron_variant BRCA-EU 13 35665286 35665286 single base substitution G A intron_variant BRCA-EU 13 35665393 35665393 single base substitution T C intron_variant BRCA-EU 13 35666010 35666010 single base substitution A G intron_variant BRCA-EU 13 35666326 35666326 single base substitution T G intron_variant BRCA-EU 13 35667467 35667467 deletion of <=200bp G - intron_variant BRCA-EU 13 35670075 35670075 single base substitution G C intron_variant BRCA-EU 13 35670376 35670376 single base substitution T C intron_variant BRCA-EU 13 35670778 35670778 single base substitution C A intron_variant BRCA-EU 13 35671100 35671100 insertion of <=200bp - T intron_variant BRCA-EU 13 35673045 35673045 single base substitution G C intron_variant BRCA-EU 13 35674808 35674808 single base substitution C T intron_variant BRCA-EU 13 35675044 35675044 deletion of <=200bp T - intron_variant BRCA-EU 13 35676018 35676018 single base substitution A G intron_variant BRCA-EU 13 35678475 35678475 single base substitution A G intron_variant BRCA-EU 13 35680010 35680010 single base substitution G A intron_variant BRCA-EU 13 35680316 35680316 single base substitution C T intron_variant BRCA-EU 13 35681430 35681430 single base substitution C T intron_variant BRCA-EU 13 35681552 35681552 single base substitution T C intron_variant BRCA-EU 13 35681652 35681652 single base substitution C G intron_variant BRCA-EU 13 35685172 35685191 deletion of <=200bp GTACTGTTAAAGTGAGCAGT - intron_variant BRCA-EU 13 35686537 35686537 single base substitution C T intron_variant BRCA-EU 13 35686910 35686910 single base substitution C A intron_variant BRCA-EU 13 35687232 35687232 insertion of <=200bp - T intron_variant BRCA-EU 13 35687436 35687436 single base substitution T G intron_variant BRCA-EU 13 35692568 35692568 single base substitution C T missense_variant P734S 2200C>T BRCA-EU 13 35693010 35693010 deletion of <=200bp C - intron_variant BRCA-EU 13 35694469 35694469 single base substitution C T intron_variant BRCA-EU 13 35694891 35694891 single base substitution G A intron_variant BRCA-EU 13 35696358 35696358 single base substitution A T intron_variant BRCA-EU 13 35697386 35697386 single base substitution C G intron_variant BRCA-EU 13 35698023 35698023 single base substitution G A intron_variant BRCA-EU 13 35699073 35699073 single base substitution C T intron_variant BRCA-EU 13 35701640 35701640 single base substitution A G intron_variant BRCA-EU 13 35702378 35702378 insertion of <=200bp - T intron_variant BRCA-EU 13 35702378 35702378 single base substitution A T intron_variant BRCA-EU 13 35703297 35703297 single base substitution T C intron_variant BRCA-EU 13 35704605 35704605 single base substitution A G intron_variant BRCA-EU 13 35704643 35704643 insertion of <=200bp - A intron_variant BRCA-EU 13 35707087 35707087 single base substitution A G intron_variant BRCA-EU 13 35709911 35709911 insertion of <=200bp - TA intron_variant BRCA-EU 13 35710060 35710060 insertion of <=200bp - A intron_variant BRCA-EU 13 35710286 35710286 single base substitution G A intron_variant BRCA-EU 13 35710661 35710661 single base substitution G A intron_variant BRCA-EU 13 35711384 35711384 single base substitution G T intron_variant BRCA-EU 13 35712064 35712064 single base substitution C A intron_variant BRCA-EU 13 35712671 35712671 single base substitution A T intron_variant BRCA-EU 13 35713271 35713271 single base substitution C A intron_variant BRCA-EU 13 35713496 35713496 single base substitution C A intron_variant BRCA-EU 13 35713841 35713841 single base substitution A C intron_variant BRCA-EU 13 35714159 35714159 single base substitution T A intron_variant BRCA-EU 13 35714170 35714170 single base substitution C A intron_variant BRCA-EU 13 35715425 35715425 single base substitution A T intron_variant BRCA-EU 13 35720741 35720741 single base substitution G A intron_variant BRCA-EU 13 35723015 35723015 single base substitution C T intron_variant BRCA-EU 13 35724227 35724227 single base substitution G A intron_variant BRCA-EU 13 35725599 35725599 single base substitution G C intron_variant BRCA-EU 13 35725681 35725681 single base substitution A C intron_variant BRCA-EU 13 35726602 35726602 deletion of <=200bp T - intron_variant BRCA-EU 13 35727170 35727170 single base substitution G C intron_variant BRCA-EU 13 35727286 35727286 single base substitution C A intron_variant BRCA-EU 13 35727467 35727467 single base substitution G A intron_variant BRCA-EU 13 35728768 35728768 single base substitution G C intron_variant BRCA-EU 13 35730984 35730984 single base substitution C A intron_variant BRCA-EU 13 35732582 35732582 deletion of <=200bp A - intron_variant BRCA-EU 13 35732601 35732601 single base substitution T C intron_variant BRCA-EU 13 35732664 35732664 single base substitution G A intron_variant BRCA-EU 13 35732845 35732845 single base substitution G T intron_variant BRCA-EU 13 35732954 35732954 single base substitution C T intron_variant BRCA-EU 13 35733804 35733804 single base substitution C T missense_variant H1166Y 3496C>T BRCA-EU 13 35735037 35735037 single base substitution C T intron_variant BRCA-EU 13 35735328 35735328 single base substitution G A intron_variant BRCA-EU 13 35738036 35738036 single base substitution C T intron_variant BRCA-EU 13 35739842 35739842 deletion of <=200bp G - intron_variant BRCA-EU 13 35740793 35740793 single base substitution C G intron_variant BRCA-EU 13 35741770 35741770 deletion of <=200bp A - intron_variant BRCA-EU 13 35743801 35743801 single base substitution C G intron_variant BRCA-EU 13 35744038 35744038 single base substitution C T intron_variant BRCA-EU 13 35744268 35744268 single base substitution G A intron_variant BRCA-EU 13 35744512 35744512 insertion of <=200bp - T intron_variant BRCA-EU 13 35744653 35744653 single base substitution A G intron_variant BRCA-EU 13 35744924 35744924 single base substitution C G intron_variant BRCA-EU 13 35745866 35745866 single base substitution G C intron_variant BRCA-EU 13 35746113 35746113 single base substitution C T intron_variant BRCA-EU 13 35746368 35746368 single base substitution T G intron_variant BRCA-EU 13 35746698 35746698 single base substitution C T intron_variant BRCA-EU 13 35746751 35746751 single base substitution A G intron_variant BRCA-EU 13 35746841 35746841 single base substitution C T intron_variant BRCA-EU 13 35746984 35746984 single base substitution C G intron_variant BRCA-EU 13 35747553 35747553 single base substitution C T intron_variant BRCA-EU 13 35749126 35749126 single base substitution C T intron_variant BRCA-EU 13 35749695 35749695 single base substitution C A intron_variant BRCA-EU 13 35750103 35750103 single base substitution C A intron_variant BRCA-EU 13 35754337 35754337 single base substitution T C intron_variant BRCA-EU 13 35754943 35754943 deletion of <=200bp T - intron_variant BRCA-EU 13 35755156 35755156 single base substitution G C intron_variant BRCA-EU 13 35755167 35755167 single base substitution C T intron_variant BRCA-EU 13 35755238 35755238 single base substitution T A intron_variant BRCA-EU 13 35757554 35757554 single base substitution G T intron_variant BRCA-EU 13 35758228 35758228 single base substitution C T intron_variant BRCA-EU 13 35758362 35758362 single base substitution C T intron_variant BRCA-EU 13 35758823 35758823 single base substitution C T intron_variant BRCA-EU 13 35759838 35759838 single base substitution C A intron_variant BRCA-EU 13 35760483 35760483 single base substitution C G intron_variant BRCA-EU 13 35761318 35761318 single base substitution G C intron_variant BRCA-EU 13 35761404 35761404 single base substitution G C intron_variant BRCA-EU 13 35763860 35763860 single base substitution C T intron_variant BRCA-EU 13 35764260 35764260 single base substitution G A intron_variant BRCA-EU 13 35765115 35765115 single base substitution G A intron_variant BRCA-EU 13 35766002 35766002 single base substitution C T intron_variant BRCA-EU 13 35766764 35766764 single base substitution G C intron_variant BRCA-EU 13 35766864 35766864 single base substitution G A intron_variant BRCA-EU 13 35766954 35766954 single base substitution T A intron_variant BRCA-EU 13 35768785 35768785 deletion of <=200bp A - intron_variant BRCA-EU 13 35768851 35768851 single base substitution G A intron_variant BRCA-EU 13 35769628 35769628 single base substitution C T intron_variant BRCA-EU 13 35769990 35769990 single base substitution T C intron_variant BRCA-EU 13 35770071 35770071 single base substitution A G synonymous_variant V1663V 4989A>G BRCA-EU 13 35770071 35770071 single base substitution A G synonymous_variant V1666V 4998A>G BRCA-EU 13 35773325 35773325 single base substitution C T intron_variant BRCA-EU 13 35773966 35773966 single base substitution A T intron_variant BRCA-EU 13 35776671 35776671 single base substitution G C intron_variant BRCA-EU 13 35777027 35777027 insertion of <=200bp - T intron_variant BRCA-EU 13 35777858 35777858 single base substitution C A intron_variant BRCA-EU 13 35777867 35777867 single base substitution C G intron_variant BRCA-EU 13 35778833 35778833 single base substitution A G intron_variant BRCA-EU 13 35778927 35778927 single base substitution C T intron_variant BRCA-EU 13 35779166 35779166 single base substitution A T intron_variant BRCA-EU 13 35779848 35779848 single base substitution C T intron_variant BRCA-EU 13 35781036 35781036 single base substitution G A intron_variant BRCA-EU 13 35781367 35781367 single base substitution A G intron_variant BRCA-EU 13 35782046 35782046 single base substitution A G intron_variant BRCA-EU 13 35782713 35782713 single base substitution A T intron_variant BRCA-EU 13 35784230 35784230 single base substitution G A intron_variant BRCA-EU 13 35785217 35785217 single base substitution C G missense_variant S1847C 5540C>G BRCA-EU 13 35785217 35785217 single base substitution C G missense_variant S1850C 5549C>G BRCA-EU 13 35787019 35787019 single base substitution T G intron_variant BRCA-EU 13 35787753 35787753 insertion of <=200bp - T intron_variant BRCA-EU 13 35787863 35787863 single base substitution C T intron_variant BRCA-EU 13 35788901 35788901 single base substitution C T intron_variant BRCA-EU 13 35790302 35790302 deletion of <=200bp T - intron_variant BRCA-EU 13 35791020 35791020 single base substitution C T intron_variant BRCA-EU 13 35792328 35792328 single base substitution G T intron_variant BRCA-EU 13 35793697 35793697 single base substitution C G intron_variant BRCA-EU 13 35794458 35794458 single base substitution G A intron_variant BRCA-EU 13 35798775 35798775 single base substitution C T intron_variant BRCA-EU 13 35800501 35800501 single base substitution G T intron_variant BRCA-EU 13 35800509 35800509 single base substitution C G intron_variant BRCA-EU 13 35801632 35801632 single base substitution C A intron_variant BRCA-EU 13 35802227 35802235 deletion of <=200bp ATTAATTGT - intron_variant BRCA-EU 13 35802513 35802513 single base substitution T C intron_variant BRCA-EU 13 35802514 35802514 single base substitution T C intron_variant BRCA-EU 13 35802524 35802524 single base substitution T A intron_variant BRCA-EU 13 35803751 35803751 single base substitution G A intron_variant BRCA-EU 13 35804031 35804031 single base substitution T A intron_variant BRCA-EU 13 35805041 35805041 single base substitution G A intron_variant BRCA-EU 13 35805160 35805160 single base substitution A T intron_variant BRCA-EU 13 35805599 35805599 single base substitution C A intron_variant BRCA-EU 13 35806914 35806914 insertion of <=200bp - T intron_variant BRCA-EU 13 35807203 35807203 single base substitution G C intron_variant BRCA-EU 13 35808756 35808756 single base substitution C T intron_variant BRCA-EU 13 35809841 35809841 single base substitution C T intron_variant BRCA-EU 13 35809849 35809849 single base substitution C T intron_variant BRCA-EU 13 35809878 35809878 single base substitution C A intron_variant BRCA-EU 13 35810029 35810029 single base substitution G A intron_variant BRCA-EU 13 35810836 35810836 single base substitution G A intron_variant BRCA-EU 13 35810931 35810931 single base substitution C T intron_variant BRCA-EU 13 35814834 35814834 single base substitution G A intron_variant BRCA-EU 13 35816616 35816616 single base substitution A T intron_variant BRCA-EU 13 35818300 35818300 single base substitution T G intron_variant BRCA-EU 13 35819410 35819410 single base substitution G A intron_variant BRCA-EU 13 35819491 35819491 insertion of <=200bp - T intron_variant BRCA-EU 13 35819707 35819707 single base substitution C G intron_variant BRCA-EU 13 35821378 35821378 single base substitution G A intron_variant BRCA-EU 13 35821525 35821525 single base substitution T A intron_variant BRCA-EU 13 35822018 35822018 single base substitution A G intron_variant BRCA-EU 13 35826132 35826132 single base substitution T A intron_variant BRCA-EU 13 35826152 35826152 single base substitution C A intron_variant BRCA-EU 13 35826311 35826311 single base substitution C T intron_variant BRCA-EU 13 35827236 35827236 single base substitution G A intron_variant BRCA-EU 13 35827780 35827780 single base substitution G C intron_variant BRCA-EU 13 35828823 35828823 single base substitution A T intron_variant BRCA-EU 13 35829536 35829536 single base substitution C T intron_variant BRCA-EU 13 35831936 35831936 single base substitution C T intron_variant BRCA-EU 13 35832924 35832929 multiple base substitution (>=2bp and <=200bp) TAAATT TGA intron_variant BRCA-EU 13 35832925 35832925 single base substitution A G intron_variant BRCA-EU 13 35833447 35833447 single base substitution A C intron_variant BRCA-EU 13 35833760 35833760 single base substitution T A intron_variant BRCA-EU 13 35833764 35833764 single base substitution A C intron_variant BRCA-EU 13 35836972 35836972 single base substitution G A intron_variant BRCA-EU 13 35837588 35837588 single base substitution A T intron_variant BRCA-EU 13 35840140 35840140 deletion of <=200bp A - intron_variant BRCA-EU 13 35841967 35841967 single base substitution A T intron_variant BRCA-EU 13 35842085 35842085 single base substitution T C intron_variant BRCA-EU 13 35842256 35842256 single base substitution G A intron_variant BRCA-EU 13 35842845 35842845 deletion of <=200bp T - intron_variant BRCA-EU 13 35842934 35842934 single base substitution C G intron_variant BRCA-EU 13 35845160 35845160 single base substitution C T intron_variant BRCA-EU 13 35845588 35845588 single base substitution C T intron_variant BRCA-EU 13 35846261 35846261 single base substitution C G intron_variant BRCA-EU 13 35846294 35846294 single base substitution C T intron_variant BRCA-EU 13 35848023 35848023 deletion of <=200bp A - intron_variant BRCA-EU 13 35848164 35848164 single base substitution C G intron_variant BRCA-EU 13 35848212 35848212 single base substitution G C intron_variant BRCA-EU 13 35849066 35849066 single base substitution C T intron_variant BRCA-EU 13 35849245 35849245 single base substitution G A intron_variant BRCA-EU 13 35849490 35849490 single base substitution C G intron_variant BRCA-EU 13 35850292 35850292 single base substitution G A intron_variant BRCA-EU 13 35850899 35850899 single base substitution T A intron_variant BRCA-EU 13 35851378 35851378 single base substitution C G intron_variant BRCA-EU 13 35852946 35852946 single base substitution C T intron_variant BRCA-EU 13 35855379 35855379 single base substitution T C intron_variant BRCA-EU 13 35856137 35856137 single base substitution C T intron_variant BRCA-EU 13 35856342 35856342 single base substitution C A intron_variant BRCA-EU 13 35856888 35856888 single base substitution G C intron_variant BRCA-EU 13 35857153 35857153 single base substitution A G intron_variant BRCA-EU 13 35857301 35857301 single base substitution A G intron_variant BRCA-EU 13 35857357 35857357 single base substitution A C intron_variant BRCA-EU 13 35858571 35858571 insertion of <=200bp - T intron_variant BRCA-EU 13 35859478 35859478 single base substitution G C intron_variant BRCA-EU 13 35859549 35859549 single base substitution T G intron_variant BRCA-EU 13 35859745 35859745 single base substitution G T intron_variant BRCA-EU 13 35861037 35861037 single base substitution T C intron_variant BRCA-EU 13 35861128 35861128 single base substitution C G intron_variant BRCA-EU 13 35862722 35862722 single base substitution G T intron_variant BRCA-EU 13 35864711 35864711 single base substitution A G intron_variant BRCA-EU 13 35865745 35865745 single base substitution C T intron_variant BRCA-EU 13 35868482 35868482 single base substitution A G intron_variant BRCA-EU 13 35869016 35869016 single base substitution G A intron_variant BRCA-EU 13 35869205 35869205 single base substitution A T intron_variant BRCA-EU 13 35869796 35869796 single base substitution G C intron_variant BRCA-EU 13 35871926 35871926 single base substitution A G intron_variant BRCA-EU 13 35874684 35874684 single base substitution G A intron_variant BRCA-EU 13 35875237 35875237 single base substitution C G intron_variant BRCA-EU 13 35875518 35875518 single base substitution A T intron_variant BRCA-EU 13 35875588 35875588 single base substitution T C intron_variant BRCA-EU 13 35875984 35875984 single base substitution G A intron_variant BRCA-EU 13 35878216 35878216 single base substitution G A intron_variant BRCA-EU 13 35880312 35880312 single base substitution T C intron_variant BRCA-EU 13 35880477 35880477 single base substitution C G intron_variant BRCA-EU 13 35883451 35883451 single base substitution G A intron_variant BRCA-EU 13 35884032 35884032 single base substitution C G intron_variant BRCA-EU 13 35884445 35884445 single base substitution C G intron_variant BRCA-EU 13 35884620 35884620 single base substitution C T intron_variant BRCA-EU 13 35885012 35885012 single base substitution C T intron_variant BRCA-EU 13 35885664 35885664 single base substitution A C intron_variant BRCA-EU 13 35885989 35885989 single base substitution C T intron_variant BRCA-EU 13 35889630 35889630 single base substitution G C intron_variant BRCA-EU 13 35890457 35890457 single base substitution C G intron_variant BRCA-EU 13 35891830 35891830 single base substitution G A intron_variant BRCA-EU 13 35892040 35892040 single base substitution T C intron_variant BRCA-EU 13 35892564 35892564 single base substitution G T intron_variant BRCA-EU 13 35893864 35893864 single base substitution A C intron_variant BRCA-EU 13 35894387 35894387 single base substitution T C intron_variant BRCA-EU 13 35894457 35894457 single base substitution T G intron_variant BRCA-EU 13 35894597 35894597 single base substitution G C intron_variant BRCA-EU 13 35895142 35895142 single base substitution G C intron_variant BRCA-EU 13 35897840 35897840 single base substitution T A intron_variant BRCA-EU 13 35898344 35898344 single base substitution T C intron_variant BRCA-EU 13 35898618 35898618 single base substitution T C intron_variant BRCA-EU 13 35898678 35898678 single base substitution G T intron_variant BRCA-EU 13 35899262 35899262 single base substitution A G intron_variant BRCA-EU 13 35899489 35899489 single base substitution G C intron_variant BRCA-EU 13 35900164 35900164 single base substitution C T intron_variant BRCA-EU 13 35901241 35901241 single base substitution G A intron_variant BRCA-EU 13 35902216 35902216 single base substitution G A intron_variant BRCA-EU 13 35902553 35902553 single base substitution A T intron_variant BRCA-EU 13 35902969 35902969 single base substitution G A intron_variant BRCA-EU 13 35902974 35902974 single base substitution G A intron_variant BRCA-EU 13 35903243 35903243 single base substitution T A intron_variant BRCA-EU 13 35903952 35903952 single base substitution T G intron_variant BRCA-EU 13 35905265 35905265 single base substitution G C intron_variant BRCA-EU 13 35905551 35905551 single base substitution G A intron_variant BRCA-EU 13 35906197 35906197 single base substitution C T intron_variant BRCA-EU 13 35907316 35907316 deletion of <=200bp A - intron_variant BRCA-EU 13 35908217 35908217 single base substitution C G intron_variant BRCA-EU 13 35910157 35910157 single base substitution G A intron_variant BRCA-EU 13 35910408 35910408 deletion of <=200bp A - intron_variant BRCA-EU 13 35911039 35911039 single base substitution A T intron_variant BRCA-EU 13 35911363 35911363 single base substitution A G intron_variant BRCA-EU 13 35912339 35912339 insertion of <=200bp - A intron_variant BRCA-EU 13 35912753 35912753 single base substitution C A intron_variant BRCA-EU 13 35914432 35914432 deletion of <=200bp A - intron_variant BRCA-EU 13 35915113 35915113 single base substitution C A intron_variant BRCA-EU 13 35915185 35915185 single base substitution A T intron_variant BRCA-EU 13 35916432 35916432 single base substitution T A intron_variant BRCA-EU 13 35917418 35917418 single base substitution G C intron_variant BRCA-EU 13 35918329 35918329 single base substitution A T intron_variant BRCA-EU 13 35918560 35918560 single base substitution G T intron_variant BRCA-EU 13 35920952 35920952 single base substitution G T intron_variant BRCA-EU 13 35921252 35921252 single base substitution A G intron_variant BRCA-EU 13 35921313 35921313 single base substitution G A intron_variant BRCA-EU 13 35921521 35921521 single base substitution T G intron_variant BRCA-EU 13 35922427 35922430 deletion of <=200bp ACTA - intron_variant BRCA-EU 13 35923757 35923757 single base substitution T G intron_variant BRCA-EU 13 35924281 35924281 single base substitution T C intron_variant BRCA-EU 13 35926815 35926815 single base substitution C G intron_variant BRCA-EU 13 35927132 35927132 single base substitution T C intron_variant BRCA-EU 13 35928193 35928193 single base substitution C G intron_variant BRCA-EU 13 35929157 35929157 single base substitution C G intron_variant BRCA-EU 13 35929312 35929312 single base substitution C T intron_variant BRCA-EU 13 35931044 35931044 single base substitution C G intron_variant BRCA-EU 13 35931056 35931056 single base substitution G A intron_variant BRCA-EU 13 35932724 35932724 single base substitution G A intron_variant BRCA-EU 13 35933917 35933917 single base substitution T A intron_variant BRCA-EU 13 35934805 35934805 deletion of <=200bp A - intron_variant BRCA-EU 13 35934914 35934931 deletion of <=200bp TGAACAAAATTTTATAAT - intron_variant BRCA-EU 13 35935838 35935838 single base substitution T A intron_variant BRCA-EU 13 35937933 35937933 single base substitution C T intron_variant BRCA-EU 13 35938189 35938189 single base substitution G A intron_variant BRCA-EU 13 35938285 35938285 single base substitution C T intron_variant BRCA-EU 13 35939770 35939770 single base substitution C T intron_variant BRCA-EU 13 35940657 35940657 insertion of <=200bp - T intron_variant BRCA-EU 13 35940913 35940913 single base substitution T C intron_variant BRCA-EU 13 35941399 35941399 single base substitution A C intron_variant BRCA-EU 13 35942146 35942146 single base substitution G C intron_variant BRCA-EU 13 35942181 35942181 single base substitution C G intron_variant BRCA-EU 13 35943134 35943134 single base substitution C T intron_variant BRCA-EU 13 35943437 35943437 single base substitution C G intron_variant BRCA-EU 13 35946747 35946747 single base substitution G A intron_variant BRCA-EU 13 35947655 35947655 single base substitution G A intron_variant BRCA-EU 13 35947777 35947777 single base substitution G T intron_variant BRCA-EU 13 35950887 35950887 single base substitution G C intron_variant BRCA-EU 13 35951402 35951402 single base substitution G A intron_variant BRCA-EU 13 35952370 35952370 single base substitution G T intron_variant BRCA-EU 13 35952439 35952439 single base substitution G A intron_variant BRCA-EU 13 35952440 35952440 single base substitution C T intron_variant BRCA-EU 13 35952442 35952442 single base substitution A G intron_variant BRCA-EU 13 35954692 35954692 insertion of <=200bp - A intron_variant BRCA-EU 13 35955197 35955197 single base substitution G T intron_variant BRCA-EU 13 35955531 35955531 single base substitution G C intron_variant BRCA-EU 13 35955744 35955744 single base substitution G C intron_variant BRCA-EU 13 35957165 35957165 single base substitution A T intron_variant BRCA-EU 13 35957376 35957376 single base substitution G A intron_variant BRCA-EU 13 35957778 35957778 single base substitution T C intron_variant BRCA-EU 13 35961349 35961349 single base substitution C T intron_variant BRCA-EU 13 35963367 35963367 single base substitution G C intron_variant BRCA-EU 13 35963805 35963805 single base substitution A T intron_variant BRCA-EU 13 35964753 35964753 single base substitution A G intron_variant BRCA-EU 13 35965273 35965273 single base substitution T A intron_variant BRCA-EU 13 35966210 35966210 single base substitution C A intron_variant BRCA-EU 13 35966842 35966842 single base substitution A T intron_variant BRCA-EU 13 35969374 35969374 single base substitution A C intron_variant BRCA-EU 13 35969571 35969571 single base substitution A T intron_variant BRCA-EU 13 35969706 35969706 single base substitution A G intron_variant BRCA-EU 13 35971421 35971421 single base substitution G A intron_variant BRCA-EU 13 35971656 35971656 deletion of <=200bp T - intron_variant BRCA-EU 13 35971709 35971709 single base substitution T C intron_variant BRCA-EU 13 35972365 35972365 single base substitution T A intron_variant BRCA-EU 13 35973294 35973294 single base substitution G T intron_variant BRCA-EU 13 35979580 35979580 single base substitution C G intron_variant BRCA-EU 13 35982132 35982132 single base substitution G A intron_variant BRCA-EU 13 35982231 35982231 single base substitution T C intron_variant BRCA-EU 13 35982655 35982655 single base substitution T A intron_variant BRCA-EU 13 35983169 35983169 single base substitution G A intron_variant BRCA-EU 13 35983926 35983926 single base substitution G A intron_variant BRCA-EU 13 35986194 35986194 single base substitution C A intron_variant BRCA-EU 13 35986690 35986690 single base substitution T A intron_variant BRCA-EU 13 35987311 35987311 single base substitution C G intron_variant BRCA-EU 13 35988038 35988038 single base substitution C G intron_variant BRCA-EU 13 35990774 35990774 single base substitution C T intron_variant BRCA-EU 13 35991870 35991870 single base substitution T A intron_variant BRCA-EU 13 35992089 35992089 single base substitution A T intron_variant BRCA-EU 13 35992303 35992303 single base substitution C T intron_variant BRCA-EU 13 35992651 35992651 single base substitution A C intron_variant BRCA-EU 13 35993305 35993305 single base substitution A T intron_variant BRCA-EU 13 35993718 35993718 single base substitution C G intron_variant BRCA-EU 13 35993921 35993921 single base substitution G C intron_variant BRCA-EU 13 35994533 35994533 single base substitution T G intron_variant BRCA-EU 13 35995771 35995771 single base substitution T A intron_variant BRCA-EU 13 35995961 35995961 deletion of <=200bp A - intron_variant BRCA-EU 13 35996086 35996086 single base substitution C T intron_variant BRCA-EU 13 35997417 35997417 single base substitution T A intron_variant BRCA-EU 13 35997445 35997445 single base substitution T C intron_variant BRCA-EU 13 35998207 35998207 single base substitution T G intron_variant BRCA-EU 13 36000645 36000645 single base substitution G T intron_variant BRCA-EU 13 36001023 36001023 single base substitution T A intron_variant BRCA-EU 13 36001055 36001055 single base substitution A T intron_variant BRCA-EU 13 36001255 36001255 single base substitution C T intron_variant BRCA-EU 13 36001432 36001432 single base substitution G A intron_variant BRCA-EU 13 36002789 36002789 single base substitution T C intron_variant BRCA-EU 13 36002850 36002850 single base substitution G T intron_variant BRCA-EU 13 36008308 36008308 single base substitution G T intron_variant BRCA-EU 13 36008334 36008334 single base substitution T A intron_variant BRCA-EU 13 36008623 36008623 single base substitution A G intron_variant BRCA-EU 13 36008895 36008895 single base substitution A T intron_variant BRCA-EU 13 36009432 36009432 single base substitution G A intron_variant BRCA-EU 13 36010257 36010257 single base substitution A G intron_variant BRCA-EU 13 36010610 36010610 single base substitution G A intron_variant BRCA-EU 13 36011468 36011468 single base substitution A G intron_variant BRCA-EU 13 36013971 36013971 single base substitution A T intron_variant BRCA-EU 13 36014229 36014229 single base substitution C T intron_variant BRCA-EU 13 36014605 36014605 single base substitution G T intron_variant BRCA-EU 13 36017404 36017404 single base substitution C T intron_variant BRCA-EU 13 36019004 36019004 single base substitution A T intron_variant BRCA-EU 13 36019331 36019331 deletion of <=200bp T - intron_variant BRCA-EU 13 36021050 36021050 single base substitution G A intron_variant BRCA-EU 13 36022366 36022366 deletion of <=200bp C - intron_variant BRCA-EU 13 36023982 36023982 single base substitution T C intron_variant BRCA-EU 13 36025287 36025287 single base substitution G A intron_variant BRCA-EU 13 36027569 36027569 single base substitution G A intron_variant BRCA-EU 13 36029873 36029873 single base substitution A G intron_variant BRCA-EU 13 36030428 36030429 deletion of <=200bp AA - intron_variant BRCA-EU 13 36030912 36030912 single base substitution G C intron_variant BRCA-EU 13 36031750 36031750 deletion of <=200bp T - intron_variant BRCA-EU 13 36031846 36031846 single base substitution C T intron_variant BRCA-EU 13 36031852 36031852 single base substitution T A intron_variant BRCA-EU 13 36031853 36031853 single base substitution C T intron_variant BRCA-EU 13 36032889 36032889 single base substitution C T intron_variant BRCA-EU 13 36034727 36034727 single base substitution C G intron_variant BRCA-EU 13 36035692 36035692 single base substitution C T intron_variant BRCA-EU 13 36036779 36036779 single base substitution C G intron_variant BRCA-EU 13 36039366 36039366 single base substitution A G intron_variant BRCA-EU 13 36041351 36041351 single base substitution C A intron_variant BRCA-EU 13 36041381 36041381 single base substitution C T intron_variant BRCA-EU 13 36042458 36042458 single base substitution G A intron_variant BRCA-EU 13 36042638 36042638 single base substitution G A intron_variant BRCA-EU 13 36043077 36043077 single base substitution A T intron_variant BRCA-EU 13 36044791 36044791 single base substitution G T intron_variant BRCA-EU 13 36045591 36045591 single base substitution G A intron_variant BRCA-EU 13 36046405 36046405 single base substitution G C intron_variant BRCA-EU 13 36046405 36046405 single base substitution G C upstream_gene_variant BRCA-EU 13 36047055 36047055 single base substitution G T intron_variant BRCA-EU 13 36047055 36047055 single base substitution G T upstream_gene_variant BRCA-EU 13 36047434 36047434 single base substitution G C intron_variant BRCA-EU 13 36047434 36047434 single base substitution G C upstream_gene_variant BRCA-EU 13 36047989 36047991 deletion of <=200bp TTG - intron_variant BRCA-EU 13 36047989 36047991 deletion of <=200bp TTG - upstream_gene_variant BRCA-EU 13 36048892 36048892 single base substitution C T intron_variant BRCA-EU 13 36048892 36048892 single base substitution C T upstream_gene_variant BRCA-EU 13 36049564 36049564 single base substitution C G intron_variant BRCA-EU 13 36049564 36049564 single base substitution C G upstream_gene_variant BRCA-EU 13 36049903 36049903 single base substitution C T intron_variant BRCA-EU 13 36049903 36049903 single base substitution C T upstream_gene_variant BRCA-EU 13 36050150 36050150 single base substitution C A intron_variant BRCA-EU 13 36050150 36050150 single base substitution C A upstream_gene_variant BRCA-EU 13 36050274 36050274 single base substitution A G intron_variant BRCA-EU 13 36050274 36050274 single base substitution A G upstream_gene_variant BRCA-EU 13 36052675 36052675 single base substitution C T intron_variant BRCA-EU 13 36053023 36053023 single base substitution C T intron_variant BRCA-EU 13 36055315 36055315 single base substitution T C intron_variant BRCA-EU 13 36055595 36055595 insertion of <=200bp - A intron_variant BRCA-EU 13 36056990 36056990 single base substitution G C intron_variant BRCA-EU 13 36057700 36057700 single base substitution G A intron_variant BRCA-EU 13 36057721 36057721 single base substitution G A intron_variant BRCA-EU 13 36058898 36058898 single base substitution T G intron_variant BRCA-EU 13 36059444 36059444 single base substitution C A intron_variant BRCA-EU 13 36060008 36060008 single base substitution G T intron_variant BRCA-EU 13 36060671 36060671 single base substitution C T intron_variant BRCA-EU 13 36060799 36060799 single base substitution C G intron_variant BRCA-EU 13 36063176 36063176 single base substitution C T intron_variant BRCA-EU 13 36065859 36065859 deletion of <=200bp A - intron_variant BRCA-EU 13 36065968 36065968 single base substitution G A intron_variant BRCA-EU 13 36066632 36066632 single base substitution T A intron_variant BRCA-EU 13 36066633 36066633 single base substitution C A intron_variant BRCA-EU 13 36066886 36066886 single base substitution A G intron_variant BRCA-EU 13 36067226 36067226 single base substitution C G intron_variant BRCA-EU 13 36068720 36068720 single base substitution A G intron_variant BRCA-EU 13 36070607 36070607 deletion of <=200bp A - intron_variant BRCA-EU 13 36070787 36070788 deletion of <=200bp AG - intron_variant BRCA-EU 13 36070845 36070845 single base substitution T C intron_variant BRCA-EU 13 36072521 36072521 single base substitution C A intron_variant BRCA-EU 13 36073288 36073288 single base substitution G T intron_variant BRCA-EU 13 36073570 36073570 single base substitution C T intron_variant BRCA-EU 13 36075124 36075124 single base substitution G C intron_variant BRCA-EU 13 36077487 36077487 single base substitution G T intron_variant BRCA-EU 13 36078963 36078963 single base substitution C T intron_variant BRCA-EU 13 36079524 36079524 single base substitution C T intron_variant BRCA-EU 13 36080378 36080378 single base substitution T A intron_variant BRCA-EU 13 36080466 36080466 single base substitution A C intron_variant BRCA-EU 13 36082681 36082681 single base substitution G T intron_variant BRCA-EU 13 36084603 36084603 single base substitution T A intron_variant BRCA-EU 13 36085573 36085573 single base substitution A C intron_variant BRCA-EU 13 36085886 36085886 single base substitution T A intron_variant BRCA-EU 13 36086817 36086817 single base substitution C T intron_variant BRCA-EU 13 36086849 36086849 single base substitution C G intron_variant BRCA-EU 13 36087154 36087154 deletion of <=200bp T - intron_variant BRCA-EU 13 36087725 36087725 single base substitution C A intron_variant BRCA-EU 13 36088664 36088664 single base substitution C T intron_variant BRCA-EU 13 36090218 36090218 insertion of <=200bp - TA intron_variant BRCA-EU 13 36093861 36093861 single base substitution C G intron_variant BRCA-EU 13 36093917 36093917 single base substitution C A intron_variant BRCA-EU 13 36094099 36094099 single base substitution C G intron_variant BRCA-EU 13 36094686 36094686 single base substitution C G intron_variant BRCA-EU 13 36094724 36094724 single base substitution A T intron_variant BRCA-EU 13 36095164 36095164 single base substitution T C intron_variant BRCA-EU 13 36095203 36095203 single base substitution G T intron_variant BRCA-EU 13 36096164 36096164 single base substitution G T intron_variant BRCA-EU 13 36098421 36098421 single base substitution A G intron_variant BRCA-EU 13 36098556 36098556 single base substitution C A intron_variant BRCA-EU 13 36098777 36098777 insertion of <=200bp - A intron_variant BRCA-EU 13 36100003 36100003 single base substitution T C intron_variant BRCA-EU 13 36101337 36101337 single base substitution C T intron_variant BRCA-EU 13 36102048 36102048 single base substitution C T intron_variant BRCA-EU 13 36102243 36102243 single base substitution T C intron_variant BRCA-EU 13 36104023 36104023 single base substitution A G intron_variant BRCA-EU 13 36105214 36105214 single base substitution G A intron_variant BRCA-EU 13 36105230 36105230 single base substitution C T intron_variant BRCA-EU 13 36105505 36105505 single base substitution A T intron_variant BRCA-EU 13 36106260 36106260 single base substitution G C intron_variant BRCA-EU 13 36107150 36107150 single base substitution G C intron_variant BRCA-EU 13 36107181 36107181 single base substitution C G intron_variant BRCA-EU 13 36108784 36108784 single base substitution C T intron_variant BRCA-EU 13 36108935 36108935 single base substitution C T intron_variant BRCA-EU 13 36111145 36111145 single base substitution G A intron_variant BRCA-EU 13 36113167 36113167 single base substitution T A intron_variant BRCA-EU 13 36114091 36114091 single base substitution T C intron_variant BRCA-EU 13 36114101 36114101 single base substitution A C intron_variant BRCA-EU 13 36114162 36114162 single base substitution A G intron_variant BRCA-EU 13 36115175 36115175 single base substitution T A intron_variant BRCA-EU 13 36115484 36115484 single base substitution C G intron_variant BRCA-EU 13 36116567 36116567 single base substitution C G intron_variant BRCA-EU 13 36121563 36121563 single base substitution G T intron_variant BRCA-EU 13 36122200 36122200 single base substitution G A intron_variant BRCA-EU 13 36123370 36123370 single base substitution G A intron_variant BRCA-EU 13 36127370 36127370 single base substitution C A intron_variant BRCA-EU 13 36127529 36127529 single base substitution C T intron_variant BRCA-EU 13 36127665 36127665 single base substitution C G intron_variant BRCA-EU 13 36128133 36128133 single base substitution G C intron_variant BRCA-EU 13 36129047 36129047 single base substitution A G intron_variant BRCA-EU 13 36130333 36130337 deletion of <=200bp AAAAG - intron_variant BRCA-EU 13 36130522 36130522 single base substitution G A intron_variant BRCA-EU 13 36130648 36130648 deletion of <=200bp T - intron_variant BRCA-EU 13 36131894 36131894 single base substitution G A intron_variant BRCA-EU 13 36133085 36133085 deletion of <=200bp T - intron_variant BRCA-EU 13 36133230 36133230 single base substitution T A intron_variant BRCA-EU 13 36134277 36134277 single base substitution A T intron_variant BRCA-EU 13 36136800 36136800 single base substitution C G intron_variant BRCA-EU 13 36137546 36137546 single base substitution C T intron_variant BRCA-EU 13 36138791 36138791 single base substitution T A intron_variant BRCA-EU 13 36139729 36139729 single base substitution A G intron_variant BRCA-EU 13 36141784 36141784 single base substitution G C intron_variant BRCA-EU 13 36141908 36141908 single base substitution T A intron_variant BRCA-EU 13 36142431 36142431 single base substitution A G intron_variant BRCA-EU 13 36142889 36142889 single base substitution C T intron_variant BRCA-EU 13 36143041 36143041 single base substitution C G intron_variant BRCA-EU 13 36143249 36143249 single base substitution G A intron_variant BRCA-EU 13 36143585 36143585 single base substitution T C intron_variant BRCA-EU 13 36146907 36146907 single base substitution G C intron_variant BRCA-EU 13 36148135 36148135 single base substitution T G intron_variant BRCA-EU 13 36149583 36149583 single base substitution T G intron_variant BRCA-EU 13 36150389 36150389 single base substitution G C intron_variant BRCA-EU 13 36150946 36150946 single base substitution A C intron_variant BRCA-EU 13 36151765 36151765 single base substitution A T intron_variant BRCA-EU 13 36152549 36152549 single base substitution T C intron_variant BRCA-EU 13 36153047 36153047 single base substitution A C intron_variant BRCA-EU 13 36153218 36153218 single base substitution C T intron_variant BRCA-EU 13 36156822 36156822 single base substitution G A intron_variant BRCA-EU 13 36156875 36156875 single base substitution G C intron_variant BRCA-EU 13 36156913 36156913 single base substitution G A intron_variant BRCA-EU 13 36159140 36159140 deletion of <=200bp C - intron_variant BRCA-EU 13 36160751 36160751 single base substitution G C intron_variant BRCA-EU 13 36160920 36160920 single base substitution A G intron_variant BRCA-EU 13 36162545 36162545 single base substitution A C intron_variant BRCA-EU 13 36162545 36162545 single base substitution A C upstream_gene_variant BRCA-EU 13 36162871 36162871 deletion of <=200bp A - intron_variant BRCA-EU 13 36162871 36162871 deletion of <=200bp A - upstream_gene_variant BRCA-EU 13 36165961 36165961 single base substitution G A intron_variant BRCA-EU 13 36165961 36165961 single base substitution G A upstream_gene_variant BRCA-EU 13 36166221 36166221 single base substitution A C intron_variant BRCA-EU 13 36166221 36166221 single base substitution A C upstream_gene_variant BRCA-EU 13 36168725 36168725 single base substitution G T intron_variant BRCA-EU 13 36169281 36169281 single base substitution C G intron_variant BRCA-EU 13 36169429 36169429 deletion of <=200bp T - intron_variant BRCA-EU 13 36169479 36169479 deletion of <=200bp T - intron_variant BRCA-EU 13 36169479 36169479 insertion of <=200bp - T intron_variant BRCA-EU 13 36170025 36170025 deletion of <=200bp T - intron_variant BRCA-EU 13 36174608 36174608 single base substitution T G intron_variant BRCA-EU 13 36175697 36175697 single base substitution A G intron_variant BRCA-EU 13 36176416 36176416 single base substitution C G intron_variant BRCA-EU 13 36180091 36180091 single base substitution A G intron_variant BRCA-EU 13 36180141 36180141 single base substitution T C intron_variant BRCA-EU 13 36181422 36181422 single base substitution G A intron_variant BRCA-EU 13 36181852 36181852 single base substitution G A intron_variant BRCA-EU 13 36182330 36182330 deletion of <=200bp T - intron_variant BRCA-EU 13 36182330 36182331 deletion of <=200bp TT - intron_variant BRCA-EU 13 36182877 36182877 single base substitution G A intron_variant BRCA-EU 13 36183400 36183400 single base substitution T A intron_variant BRCA-EU 13 36184910 36184910 single base substitution G C intron_variant BRCA-EU 13 36186843 36186843 single base substitution A G intron_variant BRCA-EU 13 36188145 36188145 single base substitution A G intron_variant BRCA-EU 13 36189602 36189602 single base substitution T G intron_variant BRCA-EU 13 36190854 36190854 single base substitution T A intron_variant BRCA-EU 13 36191002 36191002 single base substitution A C intron_variant BRCA-EU 13 36193605 36193605 single base substitution G A intron_variant BRCA-EU 13 36194303 36194303 single base substitution G A intron_variant BRCA-EU 13 36194425 36194425 single base substitution G C intron_variant BRCA-EU 13 36195418 36195418 single base substitution T G intron_variant BRCA-EU 13 36195478 36195478 single base substitution T C intron_variant BRCA-EU 13 36198586 36198588 deletion of <=200bp TAT - intron_variant BRCA-EU 13 36198913 36198913 single base substitution A T intron_variant BRCA-EU 13 36199393 36199393 single base substitution A C intron_variant BRCA-EU 13 36199793 36199793 single base substitution A G intron_variant BRCA-EU 13 36199892 36199892 single base substitution T G intron_variant BRCA-EU 13 36200251 36200251 single base substitution G C intron_variant BRCA-EU 13 36202254 36202254 single base substitution C T stop_gained Q2493* 7477C>T BRCA-EU 13 36202254 36202254 single base substitution C T stop_gained Q2496* 7486C>T BRCA-EU 13 36202254 36202254 single base substitution C T stop_gained Q289* 865C>T BRCA-EU 13 36202254 36202254 single base substitution C T stop_gained Q53* 157C>T BRCA-EU 13 36206550 36206550 single base substitution G A intron_variant BRCA-EU 13 36207425 36207425 single base substitution G C intron_variant BRCA-EU 13 36207488 36207488 single base substitution C A intron_variant BRCA-EU 13 36209290 36209290 single base substitution A G intron_variant BRCA-EU 13 36209559 36209559 single base substitution G C intron_variant BRCA-EU 13 36213184 36213184 single base substitution C T intron_variant BRCA-EU 13 36213685 36213685 single base substitution G A intron_variant BRCA-EU 13 36216707 36216707 single base substitution G C intron_variant BRCA-EU 13 36217179 36217179 single base substitution A G intron_variant BRCA-EU 13 36217284 36217284 single base substitution T G intron_variant BRCA-EU 13 36220063 36220063 single base substitution A T intron_variant BRCA-EU 13 36220063 36220063 single base substitution A T missense_variant I116F 346A>T BRCA-EU 13 36220768 36220768 single base substitution A G intron_variant BRCA-EU 13 36223479 36223479 single base substitution C T intron_variant BRCA-EU 13 36224672 36224672 single base substitution C G intron_variant BRCA-EU 13 36224779 36224779 single base substitution C T intron_variant BRCA-EU 13 36224954 36224954 single base substitution G T intron_variant BRCA-EU 13 36226697 36226697 single base substitution G C intron_variant BRCA-EU 13 36227318 36227318 single base substitution C T intron_variant BRCA-EU 13 36228413 36228413 single base substitution T A intron_variant BRCA-EU 13 36229045 36229081 deletion of <=200bp ATACAAATCAATGCACATTGTTTTGTGGTAACAGCAG - frameshift_variant IQINAHCFVVTAD254 BRCA-EU 13 36229045 36229081 deletion of <=200bp ATACAAATCAATGCACATTGTTTTGTGGTAACAGCAG - frameshift_variant IQINAHCFVVTAD2673 BRCA-EU 13 36229045 36229081 deletion of <=200bp ATACAAATCAATGCACATTGTTTTGTGGTAACAGCAG - frameshift_variant IQINAHCFVVTAD2676 BRCA-EU 13 36229045 36229081 deletion of <=200bp ATACAAATCAATGCACATTGTTTTGTGGTAACAGCAG - frameshift_variant IQINAHCFVVTAD469 BRCA-EU 13 36229292 36229292 single base substitution A G intron_variant BRCA-EU 13 36230722 36230722 single base substitution C T intron_variant BRCA-EU 13 36230946 36230946 single base substitution T C intron_variant BRCA-EU 13 36231498 36231498 insertion of <=200bp - A intron_variant BRCA-EU 13 36232637 36232637 single base substitution C G intron_variant BRCA-EU 13 36232875 36232875 single base substitution T C intron_variant BRCA-EU 13 36233771 36233771 single base substitution C G intron_variant BRCA-EU 13 36233772 36233772 single base substitution T A intron_variant BRCA-EU 13 36234997 36234997 single base substitution G C intron_variant BRCA-EU 13 36236058 36236058 single base substitution C T intron_variant BRCA-EU 13 36237341 36237341 single base substitution G C intron_variant BRCA-EU 13 36238130 36238130 single base substitution G A intron_variant BRCA-EU 13 36238419 36238419 single base substitution G A intron_variant BRCA-EU 13 36239007 36239007 single base substitution G C intron_variant BRCA-EU 13 36240871 36240871 single base substitution C T intron_variant BRCA-EU 13 36240871 36240871 single base substitution C T upstream_gene_variant BRCA-EU 13 36240891 36240891 insertion of <=200bp - A intron_variant BRCA-EU 13 36240891 36240891 insertion of <=200bp - A upstream_gene_variant BRCA-EU 13 36241038 36241038 single base substitution C T intron_variant BRCA-EU 13 36241038 36241038 single base substitution C T upstream_gene_variant BRCA-EU 13 36241507 36241507 single base substitution G A splice_region_variant BRCA-EU 13 36241507 36241507 single base substitution G A upstream_gene_variant BRCA-EU 13 36241790 36241790 single base substitution G C intron_variant BRCA-EU 13 36241790 36241790 single base substitution G C upstream_gene_variant BRCA-EU 13 36242470 36242470 insertion of <=200bp - T intron_variant BRCA-EU 13 36242470 36242470 insertion of <=200bp - T upstream_gene_variant BRCA-EU 13 36243135 36243135 insertion of <=200bp - G intron_variant BRCA-EU 13 36243135 36243135 insertion of <=200bp - G upstream_gene_variant BRCA-EU 13 36247084 36247084 single base substitution C T downstream_gene_variant BRCA-EU 13 36247084 36247084 single base substitution C T exon_variant BRCA-EU 13 36248483 36248483 single base substitution C G downstream_gene_variant BRCA-EU 13 36249305 36249317 deletion of <=200bp CCCCTGGTGGTGG - downstream_gene_variant BRCA-EU 13 36250013 36250013 single base substitution G A downstream_gene_variant BRCA-EU 13 36250149 36250149 single base substitution C T downstream_gene_variant BRCA-EU 13 36251079 36251079 deletion of <=200bp A - downstream_gene_variant BRCA-FR 13 35512524 35512524 single base substitution G A upstream_gene_variant BRCA-FR 13 35518440 35518440 single base substitution C G intron_variant BRCA-FR 13 35536475 35536475 single base substitution C A intron_variant BRCA-FR 13 35538276 35538276 single base substitution C G intron_variant BRCA-FR 13 35545180 35545180 single base substitution G C intron_variant BRCA-FR 13 35598579 35598579 single base substitution C T intron_variant BRCA-FR 13 35614218 35614218 single base substitution A C intron_variant BRCA-FR 13 35619262 35619262 single base substitution C G intron_variant BRCA-FR 13 35624614 35624614 single base substitution C G intron_variant BRCA-FR 13 35631299 35631299 single base substitution G A intron_variant BRCA-FR 13 35648732 35648732 single base substitution C T downstream_gene_variant BRCA-FR 13 35648732 35648732 single base substitution C T intron_variant BRCA-FR 13 35651188 35651188 single base substitution C A intron_variant BRCA-FR 13 35664341 35664341 single base substitution C T intron_variant BRCA-FR 13 35684203 35684203 single base substitution T G intron_variant BRCA-FR 13 35731464 35731464 single base substitution C A intron_variant BRCA-FR 13 35743801 35743801 single base substitution C G intron_variant BRCA-FR 13 35753845 35753845 single base substitution G A intron_variant BRCA-FR 13 35765115 35765115 single base substitution G A intron_variant BRCA-FR 13 35777867 35777867 single base substitution C G intron_variant BRCA-FR 13 35784230 35784230 single base substitution G A intron_variant BRCA-FR 13 35794458 35794458 single base substitution G A intron_variant BRCA-FR 13 35802836 35802836 single base substitution C T intron_variant BRCA-FR 13 35809878 35809878 single base substitution C A intron_variant BRCA-FR 13 35826152 35826152 single base substitution C A intron_variant BRCA-FR 13 35852946 35852946 single base substitution C T intron_variant BRCA-FR 13 35859549 35859549 single base substitution T G intron_variant BRCA-FR 13 35875588 35875588 single base substitution T C intron_variant BRCA-FR 13 35894597 35894597 single base substitution G C intron_variant BRCA-FR 13 35910157 35910157 single base substitution G A intron_variant BRCA-FR 13 35917418 35917418 single base substitution G C intron_variant BRCA-FR 13 35918462 35918462 single base substitution G A intron_variant BRCA-FR 13 35920952 35920952 single base substitution G T intron_variant BRCA-FR 13 35924358 35924358 single base substitution A C intron_variant BRCA-FR 13 35938189 35938189 single base substitution G A intron_variant BRCA-FR 13 35942146 35942146 single base substitution G C intron_variant BRCA-FR 13 35942436 35942436 single base substitution C T intron_variant BRCA-FR 13 35947655 35947655 single base substitution G A intron_variant BRCA-FR 13 35953892 35953892 single base substitution G T intron_variant BRCA-FR 13 35969266 35969266 single base substitution C G intron_variant BRCA-FR 13 35972759 35972759 single base substitution T C intron_variant BRCA-FR 13 35979580 35979580 single base substitution C G intron_variant BRCA-FR 13 35982132 35982132 single base substitution G A intron_variant BRCA-FR 13 35986690 35986690 single base substitution T A intron_variant BRCA-FR 13 35987311 35987311 single base substitution C G intron_variant BRCA-FR 13 35988038 35988038 single base substitution C G intron_variant BRCA-FR 13 35989055 35989055 single base substitution C T intron_variant BRCA-FR 13 36025021 36025021 single base substitution G T intron_variant BRCA-FR 13 36036779 36036779 single base substitution C G intron_variant BRCA-FR 13 36042638 36042638 single base substitution G A intron_variant BRCA-FR 13 36084603 36084603 single base substitution T A intron_variant BRCA-FR 13 36085573 36085573 single base substitution A C intron_variant BRCA-FR 13 36086817 36086817 single base substitution C T intron_variant BRCA-FR 13 36087725 36087725 single base substitution C A intron_variant BRCA-FR 13 36093917 36093917 single base substitution C A intron_variant BRCA-FR 13 36102048 36102048 single base substitution C T intron_variant BRCA-FR 13 36108784 36108784 single base substitution C T intron_variant BRCA-FR 13 36113514 36113514 single base substitution C T intron_variant BRCA-FR 13 36122200 36122200 single base substitution G A intron_variant BRCA-FR 13 36127665 36127665 single base substitution C G intron_variant BRCA-FR 13 36128007 36128007 single base substitution A C intron_variant BRCA-FR 13 36130522 36130522 single base substitution G A intron_variant BRCA-FR 13 36131894 36131894 single base substitution G A intron_variant BRCA-FR 13 36137546 36137546 single base substitution C T intron_variant BRCA-FR 13 36147892 36147892 single base substitution A G intron_variant BRCA-FR 13 36156875 36156875 single base substitution G C intron_variant BRCA-FR 13 36165961 36165961 single base substitution G A intron_variant BRCA-FR 13 36165961 36165961 single base substitution G A upstream_gene_variant BRCA-FR 13 36166221 36166221 single base substitution A C intron_variant BRCA-FR 13 36166221 36166221 single base substitution A C upstream_gene_variant BRCA-FR 13 36178937 36178937 single base substitution G A intron_variant BRCA-FR 13 36181852 36181852 single base substitution G A intron_variant BRCA-FR 13 36199393 36199393 single base substitution A C intron_variant BRCA-FR 13 36199793 36199793 single base substitution A G intron_variant BRCA-FR 13 36207425 36207425 single base substitution G C intron_variant BRCA-FR 13 36211418 36211418 single base substitution A G intron_variant BRCA-FR 13 36216707 36216707 single base substitution G C intron_variant BRCA-FR 13 36239007 36239007 single base substitution G C intron_variant BRCA-FR 13 36246457 36246457 single base substitution A C 3_prime_UTR_variant BRCA-FR 13 36246457 36246457 single base substitution A C downstream_gene_variant BRCA-FR 13 36246457 36246457 single base substitution A C intron_variant BRCA-UK 13 35518815 35518815 single base substitution G A intron_variant BRCA-UK 13 35519463 35519463 single base substitution A C intron_variant BRCA-UK 13 35539098 35539098 single base substitution G T intron_variant BRCA-UK 13 35544350 35544350 single base substitution C T intron_variant BRCA-UK 13 35554306 35554306 single base substitution G A intron_variant BRCA-UK 13 35558105 35558105 single base substitution A T intron_variant BRCA-UK 13 35566013 35566013 single base substitution T A intron_variant BRCA-UK 13 35622316 35622316 single base substitution C G intron_variant BRCA-UK 13 35674862 35674862 single base substitution C G intron_variant BRCA-UK 13 35701312 35701312 single base substitution G A intron_variant BRCA-UK 13 35779781 35779781 single base substitution C T intron_variant BRCA-UK 13 35805160 35805160 single base substitution A T intron_variant BRCA-UK 13 35814834 35814834 single base substitution G A intron_variant BRCA-UK 13 35821378 35821378 single base substitution G A intron_variant BRCA-UK 13 35828823 35828823 single base substitution A T intron_variant BRCA-UK 13 35854971 35854971 single base substitution C G intron_variant BRCA-UK 13 35871926 35871926 single base substitution A G intron_variant BRCA-UK 13 35904536 35904536 single base substitution G T intron_variant BRCA-UK 13 35905265 35905265 single base substitution G C intron_variant BRCA-UK 13 35921252 35921252 single base substitution A G intron_variant BRCA-UK 13 35956445 35956445 single base substitution G A intron_variant BRCA-UK 13 35957482 35957482 single base substitution C G intron_variant BRCA-UK 13 36022106 36022106 single base substitution G A intron_variant BRCA-UK 13 36023031 36023031 single base substitution G A intron_variant BRCA-UK 13 36058898 36058898 single base substitution T G intron_variant BRCA-UK 13 36094099 36094099 single base substitution C G intron_variant BRCA-UK 13 36114162 36114162 single base substitution A G intron_variant BRCA-UK 13 36115175 36115175 single base substitution T A intron_variant BRCA-UK 13 36121563 36121563 single base substitution G T intron_variant BRCA-UK 13 36180141 36180141 single base substitution T C intron_variant BRCA-UK 13 36204876 36204876 single base substitution C G intron_variant BRCA-UK 13 36231059 36231059 single base substitution G C intron_variant BRCA-UK 13 36235075 36235075 single base substitution G A intron_variant BRCA-UK 13 36240631 36240631 single base substitution G C intron_variant BRCA-UK 13 36240631 36240631 single base substitution G C upstream_gene_variant BRCA-UK 13 36246884 36246884 single base substitution C T downstream_gene_variant BRCA-UK 13 36246884 36246884 single base substitution C T intron_variant BRCA-US 13 35517230 35517230 single base substitution C T synonymous_variant I91I 273C>T BRCA-US 13 35632987 35632987 single base substitution G C missense_variant G409A 1226G>C BRCA-US 13 35644134 35644135 deletion of <=200bp TG - exon_variant BRCA-US 13 35644134 35644135 deletion of <=200bp TG - frameshift_variant IA443 BRCA-US 13 35716469 35716469 single base substitution G T missense_variant L800F 2400G>T BRCA-US 13 35733166 35733166 single base substitution C T missense_variant A953V 2858C>T BRCA-US 13 35733461 35733463 deletion of <=200bp AGT - inframe_deletion EV1051E BRCA-US 13 35733695 35733695 single base substitution G T missense_variant L1129F 3387G>T BRCA-US 13 35756527 35756527 single base substitution C T synonymous_variant L1562L 4684C>T BRCA-US 13 35756527 35756527 single base substitution C T synonymous_variant L1565L 4693C>T BRCA-US 13 35770032 35770032 single base substitution A T missense_variant K1650N 4950A>T BRCA-US 13 35770032 35770032 single base substitution A T missense_variant K1653N 4959A>T BRCA-US 13 35785239 35785239 single base substitution G C synonymous_variant V1854V 5562G>C BRCA-US 13 35785239 35785239 single base substitution G C synonymous_variant V1857V 5571G>C BRCA-US 13 36046644 36046644 single base substitution G A missense_variant D2183N 6547G>A BRCA-US 13 36046644 36046644 single base substitution G A missense_variant D2186N 6556G>A BRCA-US 13 36046644 36046644 single base substitution G A upstream_gene_variant BRCA-US 13 36049385 36049385 single base substitution A C intron_variant BRCA-US 13 36049385 36049385 single base substitution A C upstream_gene_variant BRCA-US 13 36049883 36049883 single base substitution C T intron_variant BRCA-US 13 36049883 36049883 single base substitution C T upstream_gene_variant BRCA-US 13 36049917 36049917 single base substitution G C intron_variant BRCA-US 13 36049917 36049917 single base substitution G C upstream_gene_variant BRCA-US 13 36050009 36050009 single base substitution C T intron_variant BRCA-US 13 36050009 36050009 single base substitution C T upstream_gene_variant BRCA-US 13 36050059 36050059 single base substitution C T intron_variant BRCA-US 13 36050059 36050059 single base substitution C T upstream_gene_variant BRCA-US 13 36202288 36202288 single base substitution G A missense_variant R2504Q 7511G>A BRCA-US 13 36202288 36202288 single base substitution G A missense_variant R2507Q 7520G>A BRCA-US 13 36202288 36202288 single base substitution G A missense_variant R300Q 899G>A BRCA-US 13 36202288 36202288 single base substitution G A missense_variant R64Q 191G>A BRCA-US 13 36229053 36229053 single base substitution C G missense_variant I256M 768C>G BRCA-US 13 36229053 36229053 single base substitution C G missense_variant I2675M 8025C>G BRCA-US 13 36229053 36229053 single base substitution C G missense_variant I2678M 8034C>G BRCA-US 13 36229053 36229053 single base substitution C G missense_variant I471M 1413C>G BRCA-US 13 36229093 36229093 single base substitution A T missense_variant I2689F 8065A>T BRCA-US 13 36229093 36229093 single base substitution A T missense_variant I2692F 8074A>T BRCA-US 13 36229093 36229093 single base substitution A T missense_variant I270F 808A>T BRCA-US 13 36229093 36229093 single base substitution A T missense_variant I485F 1453A>T BRCA-US 13 36239286 36239286 single base substitution C T synonymous_variant V2785V 8355C>T BRCA-US 13 36239286 36239286 single base substitution C T synonymous_variant V2788V 8364C>T BRCA-US 13 36239286 36239286 single base substitution C T synonymous_variant V366V 1098C>T BRCA-US 13 36239286 36239286 single base substitution C T synonymous_variant V581V 1743C>T BRCA-US 13 36242576 36242576 deletion of <=200bp G - frameshift_variant Q2887 BRCA-US 13 36242576 36242576 deletion of <=200bp G - frameshift_variant Q2890 BRCA-US 13 36242576 36242576 deletion of <=200bp G - frameshift_variant Q468 BRCA-US 13 36242576 36242576 deletion of <=200bp G - frameshift_variant Q683 BRCA-US 13 36242576 36242576 deletion of <=200bp G - upstream_gene_variant BTCA-JP 13 35517258 35517258 single base substitution A G intron_variant BTCA-JP 13 35517258 35517258 single base substitution A G splice_region_variant BTCA-JP 13 35733637 35733637 single base substitution A G missense_variant N1110S 3329A>G BTCA-JP 13 35734019 35734019 single base substitution G A missense_variant M1237I 3711G>A BTCA-JP 13 35735929 35735929 single base substitution C T stop_gained R1302* 3904C>T BTCA-JP 13 35739393 35739393 single base substitution C G intron_variant BTCA-JP 13 35864630 35864630 single base substitution T A intron_variant BTCA-JP 13 35883761 35883761 single base substitution C T intron_variant BTCA-JP 13 36006426 36006426 single base substitution G A missense_variant R2064H 6191G>A BTCA-JP 13 36006426 36006426 single base substitution G A missense_variant R2067H 6200G>A BTCA-JP 13 36046471 36046471 single base substitution C A intron_variant BTCA-JP 13 36046471 36046471 single base substitution C A upstream_gene_variant BTCA-JP 13 36049174 36049174 single base substitution C T intron_variant BTCA-JP 13 36049174 36049174 single base substitution C T upstream_gene_variant BTCA-JP 13 36049680 36049680 single base substitution C T intron_variant BTCA-JP 13 36049680 36049680 single base substitution C T upstream_gene_variant BTCA-JP 13 36124573 36124573 single base substitution A G intron_variant BTCA-JP 13 36202440 36202440 single base substitution A T intron_variant BTCA-JP 13 36220510 36220510 deletion of <=200bp T - intron_variant BTCA-JP 13 36228931 36228931 single base substitution G C intron_variant BTCA-JP 13 36239245 36239245 single base substitution G A missense_variant V2772I 8314G>A BTCA-JP 13 36239245 36239245 single base substitution G A missense_variant V2775I 8323G>A BTCA-JP 13 36239245 36239245 single base substitution G A missense_variant V353I 1057G>A BTCA-JP 13 36239245 36239245 single base substitution G A missense_variant V568I 1702G>A BTCA-JP 13 36242525 36242525 single base substitution C T synonymous_variant D2870D 8610C>T BTCA-JP 13 36242525 36242525 single base substitution C T synonymous_variant D2873D 8619C>T BTCA-JP 13 36242525 36242525 single base substitution C T synonymous_variant D451D 1353C>T BTCA-JP 13 36242525 36242525 single base substitution C T synonymous_variant D666D 1998C>T BTCA-JP 13 36242525 36242525 single base substitution C T upstream_gene_variant CESC-US 13 35622736 35622736 single base substitution C T stop_gained Q254* 760C>T CESC-US 13 35692417 35692417 single base substitution C T missense_variant T712M 2135C>T CESC-US 13 35736037 35736037 single base substitution C G missense_variant P1338A 4012C>G CESC-US 13 35747728 35747728 single base substitution G A synonymous_variant S1514S 4542G>A CESC-US 13 35747728 35747728 single base substitution G A synonymous_variant S1517S 4551G>A CESC-US 13 35751232 35751232 single base substitution C T missense_variant R1549W 4645C>T CESC-US 13 35751232 35751232 single base substitution C T missense_variant R1552W 4654C>T CESC-US 13 35770151 35770151 single base substitution C A missense_variant T1690K 5069C>A CESC-US 13 35770151 35770151 single base substitution C A missense_variant T1693K 5078C>A CESC-US 13 35926395 35926395 single base substitution G A synonymous_variant Q2035Q 6105G>A CESC-US 13 35926395 35926395 single base substitution G A synonymous_variant Q2038Q 6114G>A CESC-US 13 36026233 36026233 single base substitution G T synonymous_variant T2100T 6300G>T CESC-US 13 36026233 36026233 single base substitution G T synonymous_variant T2103T 6309G>T CESC-US 13 36026253 36026253 single base substitution C G stop_gained S2107* 6320C>G CESC-US 13 36026253 36026253 single base substitution C G stop_gained S2110* 6329C>G CESC-US 13 36049347 36049347 single base substitution C T intron_variant CESC-US 13 36049347 36049347 single base substitution C T upstream_gene_variant CESC-US 13 36049469 36049469 single base substitution C G intron_variant CESC-US 13 36049469 36049469 single base substitution C G upstream_gene_variant CESC-US 13 36049917 36049917 single base substitution G C intron_variant CESC-US 13 36049917 36049917 single base substitution G C upstream_gene_variant CESC-US 13 36050012 36050012 single base substitution G A intron_variant CESC-US 13 36050012 36050012 single base substitution G A upstream_gene_variant CESC-US 13 36050078 36050078 single base substitution G A intron_variant CESC-US 13 36050078 36050078 single base substitution G A upstream_gene_variant CESC-US 13 36129178 36129178 single base substitution G T missense_variant Q2284H 6852G>T CESC-US 13 36129178 36129178 single base substitution G T missense_variant Q2287H 6861G>T CESC-US 13 36129178 36129178 single base substitution G T missense_variant Q80H 240G>T CESC-US 13 36220012 36220012 single base substitution G T intron_variant CESC-US 13 36220012 36220012 single base substitution G T stop_gained E99* 295G>T CESC-US 13 36220484 36220484 single base substitution T C missense_variant L147P 440T>C CESC-US 13 36220484 36220484 single base substitution T C missense_variant L2566P 7697T>C CESC-US 13 36220484 36220484 single base substitution T C missense_variant L2569P 7706T>C CESC-US 13 36220484 36220484 single base substitution T C missense_variant L362P 1085T>C CESC-US 13 36229092 36229092 single base substitution T C synonymous_variant Y2688Y 8064T>C CESC-US 13 36229092 36229092 single base substitution T C synonymous_variant Y2691Y 8073T>C CESC-US 13 36229092 36229092 single base substitution T C synonymous_variant Y269Y 807T>C CESC-US 13 36229092 36229092 single base substitution T C synonymous_variant Y484Y 1452T>C CESC-US 13 36239230 36239230 single base substitution C G missense_variant P2767A 8299C>G CESC-US 13 36239230 36239230 single base substitution C G missense_variant P2770A 8308C>G CESC-US 13 36239230 36239230 single base substitution C G missense_variant P348A 1042C>G CESC-US 13 36239230 36239230 single base substitution C G missense_variant P563A 1687C>G CLLE-ES 13 35513848 35513848 single base substitution C A upstream_gene_variant CLLE-ES 13 35518938 35518938 single base substitution T G intron_variant CLLE-ES 13 35523702 35523702 single base substitution G A intron_variant CLLE-ES 13 35533898 35533898 single base substitution G T intron_variant CLLE-ES 13 35540204 35540204 single base substitution G A intron_variant CLLE-ES 13 35600123 35600123 single base substitution T C intron_variant CLLE-ES 13 35627709 35627709 single base substitution A T intron_variant CLLE-ES 13 35633185 35633185 single base substitution T G intron_variant CLLE-ES 13 35633578 35633578 single base substitution C G intron_variant CLLE-ES 13 35635666 35635666 single base substitution C G intron_variant CLLE-ES 13 35643459 35643459 single base substitution G T intron_variant CLLE-ES 13 35643459 35643459 single base substitution G T upstream_gene_variant CLLE-ES 13 35649176 35649176 single base substitution G A downstream_gene_variant CLLE-ES 13 35649176 35649176 single base substitution G A intron_variant CLLE-ES 13 35653625 35653625 single base substitution A T intron_variant CLLE-ES 13 35659868 35659868 single base substitution A G intron_variant CLLE-ES 13 35678414 35678414 single base substitution T C intron_variant CLLE-ES 13 35682802 35682802 single base substitution G A intron_variant CLLE-ES 13 35717810 35717810 single base substitution A G intron_variant CLLE-ES 13 35718847 35718847 single base substitution G A intron_variant CLLE-ES 13 35730438 35730438 single base substitution C A intron_variant CLLE-ES 13 35740742 35740742 single base substitution T C intron_variant CLLE-ES 13 35744369 35744369 single base substitution G A intron_variant CLLE-ES 13 35750702 35750702 single base substitution G A intron_variant CLLE-ES 13 35754974 35754974 single base substitution C T intron_variant CLLE-ES 13 35757369 35757369 single base substitution A G intron_variant CLLE-ES 13 35781182 35781182 single base substitution A G intron_variant CLLE-ES 13 35781537 35781537 single base substitution C T intron_variant CLLE-ES 13 35781606 35781606 single base substitution T G intron_variant CLLE-ES 13 35797854 35797854 single base substitution T G intron_variant CLLE-ES 13 35801009 35801009 single base substitution A G intron_variant CLLE-ES 13 35808430 35808430 single base substitution C A intron_variant CLLE-ES 13 35840478 35840478 single base substitution T G intron_variant CLLE-ES 13 35842075 35842075 single base substitution A G intron_variant CLLE-ES 13 35845276 35845276 single base substitution C T intron_variant CLLE-ES 13 35868295 35868295 single base substitution G T intron_variant CLLE-ES 13 35880557 35880560 deletion of <=200bp TCTG - intron_variant CLLE-ES 13 35886801 35886801 single base substitution T A intron_variant CLLE-ES 13 35890048 35890048 single base substitution C A intron_variant CLLE-ES 13 35908123 35908123 single base substitution A T intron_variant CLLE-ES 13 35914936 35914936 single base substitution G C intron_variant CLLE-ES 13 35920160 35920160 single base substitution G T intron_variant CLLE-ES 13 35933000 35933000 single base substitution G A intron_variant CLLE-ES 13 35981587 35981587 single base substitution G C intron_variant CLLE-ES 13 35985779 35985782 deletion of <=200bp TTTG - intron_variant CLLE-ES 13 35986128 35986128 single base substitution T A intron_variant CLLE-ES 13 35986159 35986159 single base substitution C T intron_variant CLLE-ES 13 35991165 35991165 single base substitution G A intron_variant CLLE-ES 13 35997702 35997702 single base substitution G T intron_variant CLLE-ES 13 36031255 36031255 single base substitution C T intron_variant CLLE-ES 13 36044788 36044788 single base substitution G C intron_variant CLLE-ES 13 36046535 36046535 single base substitution A C splice_acceptor_variant CLLE-ES 13 36046535 36046535 single base substitution A C upstream_gene_variant CLLE-ES 13 36063199 36063199 single base substitution G A intron_variant CLLE-ES 13 36084386 36084386 single base substitution G A intron_variant CLLE-ES 13 36104361 36104361 single base substitution A C intron_variant CLLE-ES 13 36110825 36110825 single base substitution T A intron_variant CLLE-ES 13 36119745 36119745 single base substitution G C intron_variant CLLE-ES 13 36125204 36125204 single base substitution G T intron_variant CLLE-ES 13 36135435 36135435 single base substitution T C intron_variant CLLE-ES 13 36137956 36137956 single base substitution T G intron_variant CLLE-ES 13 36168058 36168058 single base substitution C T intron_variant CLLE-ES 13 36190681 36190681 single base substitution A G intron_variant CLLE-ES 13 36203621 36203622 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant CLLE-ES 13 36241007 36241007 single base substitution A C intron_variant CLLE-ES 13 36241007 36241007 single base substitution A C upstream_gene_variant COAD-US 13 35615082 35615082 single base substitution G T stop_gained E103* 307G>T COAD-US 13 35615298 35615298 single base substitution G T missense_variant A175S 523G>T COAD-US 13 35622814 35622814 single base substitution C A missense_variant L280I 838C>A COAD-US 13 35624521 35624521 single base substitution C T stop_gained Q321* 961C>T COAD-US 13 35644195 35644195 single base substitution G A exon_variant COAD-US 13 35644195 35644195 single base substitution G A missense_variant E464K 1390G>A COAD-US 13 35644952 35644952 single base substitution A C exon_variant COAD-US 13 35644952 35644952 single base substitution A C synonymous_variant R512R 1534A>C COAD-US 13 35683425 35683425 single base substitution A C splice_acceptor_variant COAD-US 13 35685096 35685096 single base substitution C T synonymous_variant G661G 1983C>T COAD-US 13 35692599 35692599 single base substitution G T missense_variant R744I 2231G>T COAD-US 13 35729927 35729927 single base substitution T A missense_variant V821E 2462T>A COAD-US 13 35730247 35730247 insertion of <=200bp - A frameshift_variant L852Y? COAD-US 13 35731365 35731365 single base substitution C A synonymous_variant G934G 2802C>A COAD-US 13 35733663 35733663 deletion of <=200bp A - frameshift_variant K1119 COAD-US 13 35734141 35734141 single base substitution G A missense_variant R1278Q 3833G>A COAD-US 13 35735976 35735976 single base substitution A G synonymous_variant R1317R 3951A>G COAD-US 13 35736055 35736055 single base substitution C A missense_variant L1344I 4030C>A COAD-US 13 35745555 35745555 single base substitution T A synonymous_variant S1460S 4380T>A COAD-US 13 35745555 35745555 single base substitution T A synonymous_variant S1463S 4389T>A COAD-US 13 35747681 35747681 single base substitution A G missense_variant S1499G 4495A>G COAD-US 13 35747681 35747681 single base substitution A G missense_variant S1502G 4504A>G COAD-US 13 35751169 35751169 single base substitution A T missense_variant I1528F 4582A>T COAD-US 13 35751169 35751169 single base substitution A T missense_variant I1531F 4591A>T COAD-US 13 35751190 35751190 single base substitution C A missense_variant L1535I 4603C>A COAD-US 13 35751190 35751190 single base substitution C A missense_variant L1538I 4612C>A COAD-US 13 35770210 35770210 single base substitution A G missense_variant K1710E 5128A>G COAD-US 13 35770210 35770210 single base substitution A G missense_variant K1713E 5137A>G COAD-US 13 35770249 35770249 single base substitution T C synonymous_variant L1723L 5167T>C COAD-US 13 35770249 35770249 single base substitution T C synonymous_variant L1726L 5176T>C COAD-US 13 35806744 35806744 single base substitution C T synonymous_variant L1919L 5755C>T COAD-US 13 35806744 35806744 single base substitution C T synonymous_variant L1922L 5764C>T COAD-US 13 35806757 35806757 single base substitution G T splice_donor_variant COAD-US 13 35926329 35926329 single base substitution G T missense_variant E2013D 6039G>T COAD-US 13 35926329 35926329 single base substitution G T missense_variant E2016D 6048G>T COAD-US 13 36026233 36026233 single base substitution G A synonymous_variant T2100T 6300G>A COAD-US 13 36026233 36026233 single base substitution G A synonymous_variant T2103T 6309G>A COAD-US 13 36026303 36026303 single base substitution G T stop_gained E2124* 6370G>T COAD-US 13 36026303 36026303 single base substitution G T stop_gained E2127* 6379G>T COAD-US 13 36026371 36026371 single base substitution A T splice_region_variant COAD-US 13 36046629 36046629 single base substitution G A missense_variant E2178K 6532G>A COAD-US 13 36046629 36046629 single base substitution G A missense_variant E2181K 6541G>A COAD-US 13 36046629 36046629 single base substitution G A upstream_gene_variant COAD-US 13 36049373 36049373 single base substitution G A intron_variant COAD-US 13 36049373 36049373 single base substitution G A upstream_gene_variant COAD-US 13 36049661 36049661 single base substitution C T intron_variant COAD-US 13 36049661 36049661 single base substitution C T upstream_gene_variant COAD-US 13 36049959 36049959 single base substitution C T intron_variant COAD-US 13 36049959 36049959 single base substitution C T upstream_gene_variant COAD-US 13 36049985 36049985 single base substitution G A intron_variant COAD-US 13 36049985 36049985 single base substitution G A upstream_gene_variant COAD-US 13 36050158 36050158 single base substitution C T intron_variant COAD-US 13 36050158 36050158 single base substitution C T upstream_gene_variant COAD-US 13 36158080 36158080 single base substitution C T missense_variant R154C 460C>T COAD-US 13 36158080 36158080 single base substitution C T missense_variant R2358C 7072C>T COAD-US 13 36158080 36158080 single base substitution C T missense_variant R2361C 7081C>T COAD-US 13 36158125 36158125 single base substitution A C missense_variant N169H 505A>C COAD-US 13 36158125 36158125 single base substitution A C missense_variant N2373H 7117A>C COAD-US 13 36158125 36158125 single base substitution A C missense_variant N2376H 7126A>C COAD-US 13 36167523 36167523 single base substitution G A 5_prime_UTR_variant COAD-US 13 36167523 36167523 single base substitution G A missense_variant R205Q 614G>A COAD-US 13 36167523 36167523 single base substitution G A missense_variant R2409Q 7226G>A COAD-US 13 36167523 36167523 single base substitution G A missense_variant R2412Q 7235G>A COAD-US 13 36167537 36167537 single base substitution G A 5_prime_UTR_variant COAD-US 13 36167537 36167537 single base substitution G A missense_variant V210I 628G>A COAD-US 13 36167537 36167537 single base substitution G A missense_variant V2414I 7240G>A COAD-US 13 36167537 36167537 single base substitution G A missense_variant V2417I 7249G>A COAD-US 13 36223924 36223924 single base substitution G A missense_variant A192T 574G>A COAD-US 13 36223924 36223924 single base substitution G A missense_variant A2611T 7831G>A COAD-US 13 36223924 36223924 single base substitution G A missense_variant A2614T 7840G>A COAD-US 13 36223924 36223924 single base substitution G A missense_variant A407T 1219G>A COAD-US 13 36225941 36225941 single base substitution G T splice_acceptor_variant COAD-US 13 36229087 36229087 single base substitution C T missense_variant R2687C 8059C>T COAD-US 13 36229087 36229087 single base substitution C T missense_variant R268C 802C>T COAD-US 13 36229087 36229087 single base substitution C T missense_variant R2690C 8068C>T COAD-US 13 36229087 36229087 single base substitution C T missense_variant R483C 1447C>T COAD-US 13 36229854 36229854 single base substitution G A missense_variant R2753Q 8258G>A COAD-US 13 36229854 36229854 single base substitution G A missense_variant R2756Q 8267G>A COAD-US 13 36229854 36229854 single base substitution G A missense_variant R334Q 1001G>A COAD-US 13 36229854 36229854 single base substitution G A missense_variant R549Q 1646G>A COAD-US 13 36242513 36242513 single base substitution C A synonymous_variant L2866L 8598C>A COAD-US 13 36242513 36242513 single base substitution C A synonymous_variant L2869L 8607C>A COAD-US 13 36242513 36242513 single base substitution C A synonymous_variant L447L 1341C>A COAD-US 13 36242513 36242513 single base substitution C A synonymous_variant L662L 1986C>A COAD-US 13 36242513 36242513 single base substitution C A upstream_gene_variant COAD-US 13 36242544 36242544 single base substitution G A missense_variant G2877R 8629G>A COAD-US 13 36242544 36242544 single base substitution G A missense_variant G2880R 8638G>A COAD-US 13 36242544 36242544 single base substitution G A missense_variant G458R 1372G>A COAD-US 13 36242544 36242544 single base substitution G A missense_variant G673R 2017G>A COAD-US 13 36242544 36242544 single base substitution G A upstream_gene_variant COAD-US 13 36242645 36242645 single base substitution C A synonymous_variant S2910S 8730C>A COAD-US 13 36242645 36242645 single base substitution C A synonymous_variant S2913S 8739C>A COAD-US 13 36242645 36242645 single base substitution C A synonymous_variant S491S 1473C>A COAD-US 13 36242645 36242645 single base substitution C A synonymous_variant S706S 2118C>A COAD-US 13 36242645 36242645 single base substitution C A upstream_gene_variant COCA-CN 13 35560398 35560398 single base substitution C T intron_variant COCA-CN 13 35615261 35615261 single base substitution A C missense_variant Q162H 486A>C COCA-CN 13 35618964 35618964 single base substitution T G intron_variant COCA-CN 13 35618968 35618968 single base substitution G T intron_variant COCA-CN 13 35618970 35618970 single base substitution G T intron_variant COCA-CN 13 35619170 35619170 single base substitution G T stop_gained E205* 613G>T COCA-CN 13 35619387 35619387 single base substitution T G intron_variant COCA-CN 13 35619402 35619402 single base substitution A C intron_variant COCA-CN 13 35619414 35619414 single base substitution G A intron_variant COCA-CN 13 35619521 35619521 single base substitution C T missense_variant P236S 706C>T COCA-CN 13 35619538 35619538 single base substitution G A splice_region_variant COCA-CN 13 35621505 35621505 single base substitution C T intron_variant COCA-CN 13 35632837 35632837 single base substitution A G intron_variant COCA-CN 13 35684955 35684955 single base substitution T C synonymous_variant L614L 1842T>C COCA-CN 13 35698790 35698790 single base substitution C T intron_variant COCA-CN 13 35730030 35730030 single base substitution C T intron_variant COCA-CN 13 35733888 35733888 single base substitution G A missense_variant V1194I 3580G>A COCA-CN 13 35733927 35733927 single base substitution G T stop_gained E1207* 3619G>T COCA-CN 13 35734069 35734069 single base substitution A C missense_variant N1254T 3761A>C COCA-CN 13 35735914 35735914 single base substitution C A missense_variant Q1297K 3889C>A COCA-CN 13 35735965 35735965 single base substitution G T stop_gained E1314* 3940G>T COCA-CN 13 35738577 35738577 single base substitution A C missense_variant Q1388H 4164A>C COCA-CN 13 35745213 35745213 single base substitution A T intron_variant COCA-CN 13 35747619 35747619 single base substitution G A missense_variant R1478K 4433G>A COCA-CN 13 35747619 35747619 single base substitution G A missense_variant R1481K 4442G>A COCA-CN 13 35758208 35758208 single base substitution G T stop_gained E1640* 4918G>T COCA-CN 13 35758208 35758208 single base substitution G T stop_gained E1643* 4927G>T COCA-CN 13 35770110 35770110 single base substitution G T missense_variant E1676D 5028G>T COCA-CN 13 35770110 35770110 single base substitution G T missense_variant E1679D 5037G>T COCA-CN 13 35782804 35782804 single base substitution G A intron_variant COCA-CN 13 35785283 35785283 single base substitution C A missense_variant A1869D 5606C>A COCA-CN 13 35785283 35785283 single base substitution C A missense_variant A1872D 5615C>A COCA-CN 13 35825347 35825347 single base substitution T C intron_variant COCA-CN 13 35866015 35866015 single base substitution G C intron_variant COCA-CN 13 35878470 35878470 single base substitution G C intron_variant COCA-CN 13 35895132 35895132 single base substitution C T intron_variant COCA-CN 13 36031846 36031846 single base substitution C T intron_variant COCA-CN 13 36046628 36046628 single base substitution C T synonymous_variant F2177F 6531C>T COCA-CN 13 36046628 36046628 single base substitution C T synonymous_variant F2180F 6540C>T COCA-CN 13 36046628 36046628 single base substitution C T upstream_gene_variant COCA-CN 13 36049372 36049372 single base substitution C T intron_variant COCA-CN 13 36049372 36049372 single base substitution C T upstream_gene_variant COCA-CN 13 36050034 36050034 single base substitution T C intron_variant COCA-CN 13 36050034 36050034 single base substitution T C upstream_gene_variant COCA-CN 13 36050320 36050320 single base substitution C T intron_variant COCA-CN 13 36050320 36050320 single base substitution C T upstream_gene_variant COCA-CN 13 36072462 36072462 single base substitution T A intron_variant COCA-CN 13 36083861 36083861 single base substitution T A intron_variant COCA-CN 13 36124729 36124729 single base substitution G A missense_variant R2231Q 6692G>A COCA-CN 13 36124729 36124729 single base substitution G A missense_variant R2234Q 6701G>A COCA-CN 13 36124729 36124729 single base substitution G A missense_variant R27Q 80G>A COCA-CN 13 36124756 36124756 single base substitution G T intron_variant COCA-CN 13 36133926 36133926 single base substitution G A intron_variant COCA-CN 13 36158045 36158045 single base substitution C T missense_variant A142V 425C>T COCA-CN 13 36158045 36158045 single base substitution C T missense_variant A2346V 7037C>T COCA-CN 13 36158045 36158045 single base substitution C T missense_variant A2349V 7046C>T COCA-CN 13 36158160 36158160 single base substitution C A synonymous_variant S180S 540C>A COCA-CN 13 36158160 36158160 single base substitution C A synonymous_variant S2384S 7152C>A COCA-CN 13 36158160 36158160 single base substitution C A synonymous_variant S2387S 7161C>A COCA-CN 13 36172218 36172218 single base substitution T G intron_variant COCA-CN 13 36180845 36180845 single base substitution T G intron_variant COCA-CN 13 36220461 36220461 single base substitution G A synonymous_variant P139P 417G>A COCA-CN 13 36220461 36220461 single base substitution G A synonymous_variant P2558P 7674G>A COCA-CN 13 36220461 36220461 single base substitution G A synonymous_variant P2561P 7683G>A COCA-CN 13 36220461 36220461 single base substitution G A synonymous_variant P354P 1062G>A COCA-CN 13 36229087 36229087 single base substitution C T missense_variant R2687C 8059C>T COCA-CN 13 36229087 36229087 single base substitution C T missense_variant R268C 802C>T COCA-CN 13 36229087 36229087 single base substitution C T missense_variant R2690C 8068C>T COCA-CN 13 36229087 36229087 single base substitution C T missense_variant R483C 1447C>T COCA-CN 13 36229615 36229615 single base substitution A T intron_variant COCA-CN 13 36229811 36229811 single base substitution G A missense_variant G2739R 8215G>A COCA-CN 13 36229811 36229811 single base substitution G A missense_variant G2742R 8224G>A COCA-CN 13 36229811 36229811 single base substitution G A missense_variant G320R 958G>A COCA-CN 13 36229811 36229811 single base substitution G A missense_variant G535R 1603G>A COCA-CN 13 36239338 36239338 single base substitution C A intron_variant COCA-CN 13 36241636 36241636 single base substitution C T stop_gained R2840* 8518C>T COCA-CN 13 36241636 36241636 single base substitution C T stop_gained R2843* 8527C>T COCA-CN 13 36241636 36241636 single base substitution C T stop_gained R421* 1261C>T COCA-CN 13 36241636 36241636 single base substitution C T stop_gained R636* 1906C>T COCA-CN 13 36241636 36241636 single base substitution C T upstream_gene_variant COCA-CN 13 36241699 36241699 single base substitution T C missense_variant S2861P 8581T>C COCA-CN 13 36241699 36241699 single base substitution T C missense_variant S2864P 8590T>C COCA-CN 13 36241699 36241699 single base substitution T C missense_variant S442P 1324T>C COCA-CN 13 36241699 36241699 single base substitution T C missense_variant S657P 1969T>C COCA-CN 13 36241699 36241699 single base substitution T C upstream_gene_variant COCA-CN 13 36245096 36245096 single base substitution C T missense_variant R2934W 8800C>T COCA-CN 13 36245096 36245096 single base substitution C T missense_variant R2937W 8809C>T COCA-CN 13 36245096 36245096 single base substitution C T missense_variant R515W 1543C>T COCA-CN 13 36245096 36245096 single base substitution C T missense_variant R730W 2188C>T COCA-CN 13 36245096 36245096 single base substitution C T upstream_gene_variant COCA-CN 13 36245100 36245100 single base substitution G T missense_variant W2935L 8804G>T COCA-CN 13 36245100 36245100 single base substitution G T missense_variant W2938L 8813G>T COCA-CN 13 36245100 36245100 single base substitution G T missense_variant W516L 1547G>T COCA-CN 13 36245100 36245100 single base substitution G T missense_variant W731L 2192G>T COCA-CN 13 36245100 36245100 single base substitution G T upstream_gene_variant EOPC-DE 13 35574237 35574237 single base substitution C T intron_variant EOPC-DE 13 35618037 35618037 single base substitution T G intron_variant EOPC-DE 13 35674907 35674907 single base substitution G A intron_variant EOPC-DE 13 35832454 35832454 single base substitution G A intron_variant EOPC-DE 13 36102598 36102598 single base substitution G A intron_variant EOPC-DE 13 36147855 36147855 single base substitution G T intron_variant ESAD-UK 13 35511924 35511924 single base substitution A C upstream_gene_variant ESAD-UK 13 35511971 35511971 single base substitution T A upstream_gene_variant ESAD-UK 13 35512445 35512445 single base substitution T G upstream_gene_variant ESAD-UK 13 35512907 35512907 single base substitution C T upstream_gene_variant ESAD-UK 13 35515272 35515272 single base substitution T A upstream_gene_variant ESAD-UK 13 35515468 35515468 single base substitution T A upstream_gene_variant ESAD-UK 13 35517233 35517233 single base substitution G A synonymous_variant V92V 276G>A ESAD-UK 13 35517509 35517509 single base substitution T G intron_variant ESAD-UK 13 35518573 35518573 single base substitution T C intron_variant ESAD-UK 13 35519047 35519047 single base substitution G A intron_variant ESAD-UK 13 35519368 35519368 single base substitution G T intron_variant ESAD-UK 13 35520334 35520334 single base substitution G A intron_variant ESAD-UK 13 35520531 35520531 single base substitution G C intron_variant ESAD-UK 13 35521400 35521400 single base substitution A C intron_variant ESAD-UK 13 35522275 35522275 insertion of <=200bp - T intron_variant ESAD-UK 13 35522788 35522788 single base substitution C A intron_variant ESAD-UK 13 35522987 35522987 single base substitution T A intron_variant ESAD-UK 13 35522987 35522987 single base substitution T G intron_variant ESAD-UK 13 35522996 35522996 single base substitution A C intron_variant ESAD-UK 13 35523129 35523129 single base substitution A C intron_variant ESAD-UK 13 35523131 35523131 single base substitution T G intron_variant ESAD-UK 13 35523470 35523470 single base substitution T A intron_variant ESAD-UK 13 35523960 35523960 single base substitution T G intron_variant ESAD-UK 13 35524127 35524127 single base substitution A C intron_variant ESAD-UK 13 35524600 35524600 single base substitution C G intron_variant ESAD-UK 13 35525024 35525024 single base substitution A G intron_variant ESAD-UK 13 35525189 35525189 single base substitution C T intron_variant ESAD-UK 13 35525190 35525190 single base substitution G A intron_variant ESAD-UK 13 35525833 35525833 single base substitution T A intron_variant ESAD-UK 13 35526664 35526664 single base substitution A C intron_variant ESAD-UK 13 35526897 35526897 single base substitution A G intron_variant ESAD-UK 13 35527345 35527345 single base substitution T C intron_variant ESAD-UK 13 35527430 35527430 single base substitution A C intron_variant ESAD-UK 13 35528115 35528115 single base substitution A T intron_variant ESAD-UK 13 35528356 35528356 single base substitution T C intron_variant ESAD-UK 13 35528614 35528614 single base substitution T G intron_variant ESAD-UK 13 35528918 35528918 single base substitution T C intron_variant ESAD-UK 13 35529328 35529328 single base substitution C T intron_variant ESAD-UK 13 35529846 35529846 single base substitution A T intron_variant ESAD-UK 13 35531181 35531181 single base substitution T C intron_variant ESAD-UK 13 35531182 35531182 insertion of <=200bp - AC intron_variant ESAD-UK 13 35533578 35533578 single base substitution C A intron_variant ESAD-UK 13 35533899 35533899 single base substitution C T intron_variant ESAD-UK 13 35534248 35534248 single base substitution T C intron_variant ESAD-UK 13 35535534 35535534 single base substitution T G intron_variant ESAD-UK 13 35535591 35535591 single base substitution C T intron_variant ESAD-UK 13 35536337 35536337 single base substitution G A intron_variant ESAD-UK 13 35536572 35536572 single base substitution T C intron_variant ESAD-UK 13 35537916 35537916 single base substitution C T intron_variant ESAD-UK 13 35538476 35538476 single base substitution A C intron_variant ESAD-UK 13 35538750 35538750 single base substitution T G intron_variant ESAD-UK 13 35538767 35538767 single base substitution A G intron_variant ESAD-UK 13 35538792 35538792 single base substitution T G intron_variant ESAD-UK 13 35538942 35538942 single base substitution T A intron_variant ESAD-UK 13 35539037 35539037 single base substitution A C intron_variant ESAD-UK 13 35539717 35539717 single base substitution G T intron_variant ESAD-UK 13 35540969 35540969 single base substitution A C intron_variant ESAD-UK 13 35541496 35541496 single base substitution T A intron_variant ESAD-UK 13 35543396 35543396 single base substitution C G intron_variant ESAD-UK 13 35543412 35543412 single base substitution G T intron_variant ESAD-UK 13 35543454 35543454 single base substitution A T intron_variant ESAD-UK 13 35544462 35544462 single base substitution A C intron_variant ESAD-UK 13 35544562 35544562 single base substitution T G intron_variant ESAD-UK 13 35545145 35545145 single base substitution G A intron_variant ESAD-UK 13 35545416 35545416 single base substitution A C intron_variant ESAD-UK 13 35545427 35545427 single base substitution T C intron_variant ESAD-UK 13 35545501 35545501 single base substitution A T intron_variant ESAD-UK 13 35545798 35545798 single base substitution A C intron_variant ESAD-UK 13 35545908 35545908 single base substitution A C intron_variant ESAD-UK 13 35546234 35546234 deletion of <=200bp T - intron_variant ESAD-UK 13 35546479 35546479 single base substitution A C intron_variant ESAD-UK 13 35546615 35546615 single base substitution C A intron_variant ESAD-UK 13 35546811 35546811 single base substitution C T intron_variant ESAD-UK 13 35546846 35546846 single base substitution T C intron_variant ESAD-UK 13 35546846 35546846 single base substitution T G intron_variant ESAD-UK 13 35547934 35547934 single base substitution G A intron_variant ESAD-UK 13 35547985 35547985 single base substitution A C intron_variant ESAD-UK 13 35548390 35548390 single base substitution G C intron_variant ESAD-UK 13 35549088 35549088 single base substitution T C intron_variant ESAD-UK 13 35549088 35549088 single base substitution T G intron_variant ESAD-UK 13 35549293 35549293 single base substitution A C intron_variant ESAD-UK 13 35549356 35549356 single base substitution A T intron_variant ESAD-UK 13 35549605 35549605 single base substitution A G intron_variant ESAD-UK 13 35550448 35550448 single base substitution A C intron_variant ESAD-UK 13 35551471 35551471 single base substitution A C intron_variant ESAD-UK 13 35551813 35551813 single base substitution T G intron_variant ESAD-UK 13 35552099 35552099 single base substitution A T intron_variant ESAD-UK 13 35552116 35552116 single base substitution A T intron_variant ESAD-UK 13 35552194 35552194 single base substitution T G intron_variant ESAD-UK 13 35552818 35552818 single base substitution G C intron_variant ESAD-UK 13 35553051 35553051 single base substitution T C intron_variant ESAD-UK 13 35553099 35553099 single base substitution C T intron_variant ESAD-UK 13 35553296 35553296 single base substitution C T intron_variant ESAD-UK 13 35553320 35553320 single base substitution G T intron_variant ESAD-UK 13 35553464 35553464 single base substitution C T intron_variant ESAD-UK 13 35553548 35553548 single base substitution T G intron_variant ESAD-UK 13 35553607 35553607 single base substitution A C intron_variant ESAD-UK 13 35553643 35553643 single base substitution C A intron_variant ESAD-UK 13 35553660 35553660 single base substitution G T intron_variant ESAD-UK 13 35554051 35554051 single base substitution T C intron_variant ESAD-UK 13 35554890 35554890 single base substitution T G intron_variant ESAD-UK 13 35555335 35555335 single base substitution G A intron_variant ESAD-UK 13 35555376 35555376 single base substitution T G intron_variant ESAD-UK 13 35555524 35555524 single base substitution C T intron_variant ESAD-UK 13 35556406 35556406 single base substitution T C intron_variant ESAD-UK 13 35556495 35556495 single base substitution C T intron_variant ESAD-UK 13 35556812 35556812 single base substitution T G intron_variant ESAD-UK 13 35556972 35556972 insertion of <=200bp - T intron_variant ESAD-UK 13 35557216 35557216 single base substitution T C intron_variant ESAD-UK 13 35557405 35557405 single base substitution G C intron_variant ESAD-UK 13 35557423 35557423 single base substitution T A intron_variant ESAD-UK 13 35557451 35557451 single base substitution G T intron_variant ESAD-UK 13 35557691 35557691 single base substitution G T intron_variant ESAD-UK 13 35558283 35558283 single base substitution T C intron_variant ESAD-UK 13 35558467 35558467 single base substitution A C intron_variant ESAD-UK 13 35559523 35559523 single base substitution A C intron_variant ESAD-UK 13 35560146 35560146 single base substitution A G intron_variant ESAD-UK 13 35560327 35560327 single base substitution C T intron_variant ESAD-UK 13 35560726 35560726 single base substitution T C intron_variant ESAD-UK 13 35561518 35561518 single base substitution T G intron_variant ESAD-UK 13 35562343 35562343 single base substitution C T intron_variant ESAD-UK 13 35562383 35562383 single base substitution C G intron_variant ESAD-UK 13 35562773 35562773 single base substitution G T intron_variant ESAD-UK 13 35562822 35562822 single base substitution A G intron_variant ESAD-UK 13 35562981 35562981 single base substitution T C intron_variant ESAD-UK 13 35563373 35563373 single base substitution A G intron_variant ESAD-UK 13 35564445 35564445 single base substitution T G intron_variant ESAD-UK 13 35564446 35564446 single base substitution A T intron_variant ESAD-UK 13 35564462 35564462 single base substitution G C intron_variant ESAD-UK 13 35564515 35564515 single base substitution A C intron_variant ESAD-UK 13 35564566 35564566 single base substitution A C intron_variant ESAD-UK 13 35565424 35565424 single base substitution G A intron_variant ESAD-UK 13 35566402 35566402 insertion of <=200bp - ATA intron_variant ESAD-UK 13 35566629 35566629 single base substitution C T intron_variant ESAD-UK 13 35566896 35566896 single base substitution G A intron_variant ESAD-UK 13 35567067 35567067 single base substitution G A intron_variant ESAD-UK 13 35567375 35567375 single base substitution C T intron_variant ESAD-UK 13 35567376 35567376 single base substitution G A intron_variant ESAD-UK 13 35567732 35567732 single base substitution A G intron_variant ESAD-UK 13 35567924 35567924 single base substitution A C intron_variant ESAD-UK 13 35567926 35567926 single base substitution A C intron_variant ESAD-UK 13 35567929 35567929 single base substitution T G intron_variant ESAD-UK 13 35568163 35568163 single base substitution C T intron_variant ESAD-UK 13 35568501 35568501 single base substitution A C intron_variant ESAD-UK 13 35568836 35568836 single base substitution T C intron_variant ESAD-UK 13 35570508 35570508 single base substitution A G intron_variant ESAD-UK 13 35571113 35571113 single base substitution A C intron_variant ESAD-UK 13 35571475 35571475 single base substitution C T intron_variant ESAD-UK 13 35571485 35571485 single base substitution A G intron_variant ESAD-UK 13 35572018 35572018 single base substitution A T intron_variant ESAD-UK 13 35572023 35572023 single base substitution T A intron_variant ESAD-UK 13 35572160 35572160 single base substitution G A intron_variant ESAD-UK 13 35574016 35574016 single base substitution C A intron_variant ESAD-UK 13 35574948 35574948 single base substitution A G intron_variant ESAD-UK 13 35575328 35575328 single base substitution G T intron_variant ESAD-UK 13 35575396 35575396 single base substitution T A intron_variant ESAD-UK 13 35575416 35575416 single base substitution G A intron_variant ESAD-UK 13 35575490 35575490 single base substitution A T intron_variant ESAD-UK 13 35575764 35575764 single base substitution T G intron_variant ESAD-UK 13 35576071 35576071 single base substitution A G intron_variant ESAD-UK 13 35576597 35576597 single base substitution T G intron_variant ESAD-UK 13 35576750 35576750 single base substitution C T intron_variant ESAD-UK 13 35576826 35576826 single base substitution C A intron_variant ESAD-UK 13 35577558 35577558 single base substitution A C intron_variant ESAD-UK 13 35578671 35578671 single base substitution T A intron_variant ESAD-UK 13 35580677 35580677 single base substitution C A intron_variant ESAD-UK 13 35580734 35580734 single base substitution T A intron_variant ESAD-UK 13 35581444 35581444 single base substitution T G intron_variant ESAD-UK 13 35581765 35581765 single base substitution A G intron_variant ESAD-UK 13 35581799 35581799 single base substitution T G intron_variant ESAD-UK 13 35581859 35581859 single base substitution A G intron_variant ESAD-UK 13 35581872 35581872 single base substitution T C intron_variant ESAD-UK 13 35581993 35581993 single base substitution C T intron_variant ESAD-UK 13 35582214 35582214 single base substitution G T intron_variant ESAD-UK 13 35582303 35582303 single base substitution G A intron_variant ESAD-UK 13 35582604 35582604 single base substitution C T intron_variant ESAD-UK 13 35583508 35583508 single base substitution A C intron_variant ESAD-UK 13 35583521 35583521 single base substitution G A intron_variant ESAD-UK 13 35583599 35583599 single base substitution C T intron_variant ESAD-UK 13 35584959 35584959 single base substitution G A intron_variant ESAD-UK 13 35585975 35585975 single base substitution G A intron_variant ESAD-UK 13 35586385 35586385 single base substitution C A intron_variant ESAD-UK 13 35586430 35586430 single base substitution A C intron_variant ESAD-UK 13 35586570 35586570 single base substitution A C intron_variant ESAD-UK 13 35587675 35587675 single base substitution T C intron_variant ESAD-UK 13 35587732 35587732 single base substitution C T intron_variant ESAD-UK 13 35588465 35588465 deletion of <=200bp T - intron_variant ESAD-UK 13 35588642 35588642 single base substitution T C intron_variant ESAD-UK 13 35589066 35589066 single base substitution A C intron_variant ESAD-UK 13 35589955 35589955 single base substitution A G intron_variant ESAD-UK 13 35590177 35590177 single base substitution A T intron_variant ESAD-UK 13 35590378 35590378 single base substitution G T intron_variant ESAD-UK 13 35590900 35590900 single base substitution T A intron_variant ESAD-UK 13 35591019 35591019 single base substitution G A intron_variant ESAD-UK 13 35591125 35591125 single base substitution T C intron_variant ESAD-UK 13 35591802 35591802 single base substitution A T intron_variant ESAD-UK 13 35592279 35592279 insertion of <=200bp - T intron_variant ESAD-UK 13 35592330 35592330 single base substitution A C intron_variant ESAD-UK 13 35592441 35592441 single base substitution G T intron_variant ESAD-UK 13 35592607 35592607 single base substitution T G intron_variant ESAD-UK 13 35592688 35592688 single base substitution A T intron_variant ESAD-UK 13 35593287 35593287 single base substitution T G intron_variant ESAD-UK 13 35593360 35593360 single base substitution G C intron_variant ESAD-UK 13 35593452 35593452 single base substitution T G intron_variant ESAD-UK 13 35593558 35593558 single base substitution C A intron_variant ESAD-UK 13 35593559 35593559 single base substitution C T intron_variant ESAD-UK 13 35593603 35593603 single base substitution T G intron_variant ESAD-UK 13 35594218 35594218 single base substitution T A intron_variant ESAD-UK 13 35594599 35594599 single base substitution G T intron_variant ESAD-UK 13 35594778 35594778 single base substitution C T intron_variant ESAD-UK 13 35594835 35594835 single base substitution T G intron_variant ESAD-UK 13 35594981 35594981 deletion of <=200bp T - intron_variant ESAD-UK 13 35595009 35595009 single base substitution T G intron_variant ESAD-UK 13 35595059 35595059 single base substitution G T intron_variant ESAD-UK 13 35595123 35595123 single base substitution T A intron_variant ESAD-UK 13 35595172 35595172 single base substitution A G intron_variant ESAD-UK 13 35595193 35595193 single base substitution C T intron_variant ESAD-UK 13 35595449 35595449 single base substitution A C intron_variant ESAD-UK 13 35595452 35595452 single base substitution T G intron_variant ESAD-UK 13 35595831 35595831 single base substitution T G intron_variant ESAD-UK 13 35595836 35595836 single base substitution A G intron_variant ESAD-UK 13 35595944 35595944 single base substitution C T intron_variant ESAD-UK 13 35596145 35596145 single base substitution A G intron_variant ESAD-UK 13 35596339 35596339 single base substitution T G intron_variant ESAD-UK 13 35596392 35596392 single base substitution C T intron_variant ESAD-UK 13 35596617 35596617 single base substitution T C intron_variant ESAD-UK 13 35596742 35596742 single base substitution G T intron_variant ESAD-UK 13 35596951 35596951 single base substitution T G intron_variant ESAD-UK 13 35597384 35597384 single base substitution T C intron_variant ESAD-UK 13 35597752 35597752 single base substitution A C intron_variant ESAD-UK 13 35597752 35597752 single base substitution A G intron_variant ESAD-UK 13 35597866 35597866 single base substitution A C intron_variant ESAD-UK 13 35597937 35597937 single base substitution T C intron_variant ESAD-UK 13 35598014 35598014 single base substitution G T intron_variant ESAD-UK 13 35598532 35598532 single base substitution G T intron_variant ESAD-UK 13 35598652 35598652 single base substitution A C intron_variant ESAD-UK 13 35598704 35598704 single base substitution T G intron_variant ESAD-UK 13 35600243 35600243 single base substitution T C intron_variant ESAD-UK 13 35600363 35600363 single base substitution A C intron_variant ESAD-UK 13 35600889 35600889 single base substitution A G intron_variant ESAD-UK 13 35601040 35601040 single base substitution T C intron_variant ESAD-UK 13 35601083 35601083 single base substitution C A intron_variant ESAD-UK 13 35601424 35601424 single base substitution T G intron_variant ESAD-UK 13 35601626 35601626 single base substitution T C intron_variant ESAD-UK 13 35602000 35602000 single base substitution C T intron_variant ESAD-UK 13 35602030 35602030 single base substitution T G intron_variant ESAD-UK 13 35602353 35602353 single base substitution G A intron_variant ESAD-UK 13 35602508 35602508 single base substitution T A intron_variant ESAD-UK 13 35602955 35602955 single base substitution T C intron_variant ESAD-UK 13 35602968 35602968 single base substitution T C intron_variant ESAD-UK 13 35602968 35602968 single base substitution T G intron_variant ESAD-UK 13 35603221 35603221 single base substitution A G intron_variant ESAD-UK 13 35604241 35604241 single base substitution G A intron_variant ESAD-UK 13 35604281 35604281 single base substitution G T intron_variant ESAD-UK 13 35604351 35604351 single base substitution T G intron_variant ESAD-UK 13 35604365 35604365 single base substitution T C intron_variant ESAD-UK 13 35604384 35604386 deletion of <=200bp TCT - intron_variant ESAD-UK 13 35604412 35604412 single base substitution A C intron_variant ESAD-UK 13 35604455 35604455 single base substitution T G intron_variant ESAD-UK 13 35604834 35604834 single base substitution T G intron_variant ESAD-UK 13 35605330 35605330 single base substitution C A intron_variant ESAD-UK 13 35606620 35606620 insertion of <=200bp - T intron_variant ESAD-UK 13 35606842 35606842 single base substitution G A intron_variant ESAD-UK 13 35607210 35607210 single base substitution T G intron_variant ESAD-UK 13 35607221 35607221 single base substitution C A intron_variant ESAD-UK 13 35607312 35607312 single base substitution T A intron_variant ESAD-UK 13 35607528 35607528 single base substitution T A intron_variant ESAD-UK 13 35608158 35608158 single base substitution A C intron_variant ESAD-UK 13 35608643 35608643 single base substitution G T intron_variant ESAD-UK 13 35608868 35608868 single base substitution T G intron_variant ESAD-UK 13 35608930 35608930 single base substitution T G intron_variant ESAD-UK 13 35609251 35609251 single base substitution T G intron_variant ESAD-UK 13 35609678 35609678 single base substitution C A intron_variant ESAD-UK 13 35609789 35609789 single base substitution T C intron_variant ESAD-UK 13 35609872 35609872 single base substitution T G intron_variant ESAD-UK 13 35609956 35609956 single base substitution A C intron_variant ESAD-UK 13 35610061 35610061 single base substitution T C intron_variant ESAD-UK 13 35611017 35611017 single base substitution T G intron_variant ESAD-UK 13 35611068 35611068 single base substitution T G intron_variant ESAD-UK 13 35611122 35611122 single base substitution T G intron_variant ESAD-UK 13 35611288 35611288 single base substitution C A intron_variant ESAD-UK 13 35611320 35611320 single base substitution T G intron_variant ESAD-UK 13 35611460 35611460 single base substitution A G intron_variant ESAD-UK 13 35611623 35611623 single base substitution A C intron_variant ESAD-UK 13 35611937 35611937 single base substitution A G intron_variant ESAD-UK 13 35612001 35612001 single base substitution T A intron_variant ESAD-UK 13 35612062 35612062 single base substitution T C intron_variant ESAD-UK 13 35612102 35612102 single base substitution A G intron_variant ESAD-UK 13 35612371 35612371 single base substitution C G intron_variant ESAD-UK 13 35612520 35612520 single base substitution A C intron_variant ESAD-UK 13 35613305 35613305 single base substitution A G intron_variant ESAD-UK 13 35613356 35613356 single base substitution A C intron_variant ESAD-UK 13 35614638 35614638 single base substitution A T intron_variant ESAD-UK 13 35614862 35614862 single base substitution G A intron_variant ESAD-UK 13 35615324 35615324 single base substitution A G intron_variant ESAD-UK 13 35615534 35615534 single base substitution G A intron_variant ESAD-UK 13 35616336 35616336 single base substitution A C intron_variant ESAD-UK 13 35616754 35616754 single base substitution T G intron_variant ESAD-UK 13 35616877 35616877 single base substitution G A intron_variant ESAD-UK 13 35617074 35617074 single base substitution A C intron_variant ESAD-UK 13 35617261 35617261 single base substitution A G intron_variant ESAD-UK 13 35617431 35617431 single base substitution T G intron_variant ESAD-UK 13 35617496 35617496 single base substitution G C intron_variant ESAD-UK 13 35618017 35618020 deletion of <=200bp ATTA - intron_variant ESAD-UK 13 35618334 35618334 single base substitution G A intron_variant ESAD-UK 13 35618787 35618787 single base substitution G C intron_variant ESAD-UK 13 35618964 35618964 single base substitution T G intron_variant ESAD-UK 13 35619008 35619008 single base substitution T G intron_variant ESAD-UK 13 35619018 35619018 single base substitution A C intron_variant ESAD-UK 13 35619184 35619184 single base substitution G A stop_gained W209* 627G>A ESAD-UK 13 35619805 35619805 single base substitution T C intron_variant ESAD-UK 13 35619845 35619849 deletion of <=200bp TTTTG - intron_variant ESAD-UK 13 35620027 35620027 single base substitution G A intron_variant ESAD-UK 13 35620593 35620593 single base substitution G C intron_variant ESAD-UK 13 35621061 35621061 single base substitution T C intron_variant ESAD-UK 13 35621232 35621232 single base substitution G C intron_variant ESAD-UK 13 35621368 35621368 single base substitution T G intron_variant ESAD-UK 13 35621448 35621448 single base substitution T G intron_variant ESAD-UK 13 35621482 35621482 single base substitution T C intron_variant ESAD-UK 13 35621552 35621552 single base substitution G T intron_variant ESAD-UK 13 35622168 35622168 single base substitution A C intron_variant ESAD-UK 13 35622168 35622168 single base substitution A G intron_variant ESAD-UK 13 35622422 35622422 single base substitution G A intron_variant ESAD-UK 13 35622483 35622483 single base substitution A G intron_variant ESAD-UK 13 35622989 35622989 single base substitution T G intron_variant ESAD-UK 13 35624411 35624411 single base substitution G A missense_variant R284H 851G>A ESAD-UK 13 35624862 35624862 single base substitution T A intron_variant ESAD-UK 13 35625121 35625121 single base substitution A G intron_variant ESAD-UK 13 35625460 35625460 single base substitution G T intron_variant ESAD-UK 13 35625468 35625468 single base substitution G C intron_variant ESAD-UK 13 35625742 35625742 single base substitution A G intron_variant ESAD-UK 13 35625811 35625811 single base substitution C G intron_variant ESAD-UK 13 35625985 35625985 single base substitution T C intron_variant ESAD-UK 13 35626077 35626077 single base substitution A G intron_variant ESAD-UK 13 35626278 35626278 single base substitution C T intron_variant ESAD-UK 13 35626380 35626380 single base substitution T G intron_variant ESAD-UK 13 35626772 35626772 single base substitution C G intron_variant ESAD-UK 13 35627050 35627050 single base substitution G T intron_variant ESAD-UK 13 35627101 35627101 single base substitution T G intron_variant ESAD-UK 13 35627736 35627736 single base substitution C T intron_variant ESAD-UK 13 35628427 35628427 single base substitution T G intron_variant ESAD-UK 13 35628578 35628578 single base substitution T C intron_variant ESAD-UK 13 35629031 35629031 single base substitution T G intron_variant ESAD-UK 13 35629342 35629342 single base substitution T C intron_variant ESAD-UK 13 35629417 35629417 single base substitution G T intron_variant ESAD-UK 13 35629798 35629798 single base substitution G A intron_variant ESAD-UK 13 35630060 35630060 single base substitution T C intron_variant ESAD-UK 13 35630478 35630478 single base substitution A C intron_variant ESAD-UK 13 35630485 35630485 single base substitution A C intron_variant ESAD-UK 13 35630886 35630886 single base substitution C T intron_variant ESAD-UK 13 35631157 35631157 single base substitution C T intron_variant ESAD-UK 13 35632740 35632740 single base substitution T G intron_variant ESAD-UK 13 35632778 35632778 single base substitution A C intron_variant ESAD-UK 13 35632817 35632817 single base substitution A C intron_variant ESAD-UK 13 35632847 35632847 single base substitution A G splice_region_variant ESAD-UK 13 35633355 35633355 single base substitution T C intron_variant ESAD-UK 13 35633375 35633375 single base substitution T G intron_variant ESAD-UK 13 35633464 35633464 single base substitution A G intron_variant ESAD-UK 13 35633821 35633821 single base substitution T C intron_variant ESAD-UK 13 35634511 35634511 deletion of <=200bp T - intron_variant ESAD-UK 13 35635490 35635490 single base substitution A C intron_variant ESAD-UK 13 35635511 35635511 single base substitution G T intron_variant ESAD-UK 13 35636150 35636150 insertion of <=200bp - T intron_variant ESAD-UK 13 35636485 35636485 single base substitution A C intron_variant ESAD-UK 13 35636632 35636632 single base substitution G T intron_variant ESAD-UK 13 35637064 35637064 single base substitution T G intron_variant ESAD-UK 13 35637420 35637420 single base substitution A C intron_variant ESAD-UK 13 35638108 35638108 single base substitution C T intron_variant ESAD-UK 13 35638752 35638752 single base substitution A C intron_variant ESAD-UK 13 35639015 35639015 single base substitution T C intron_variant ESAD-UK 13 35639292 35639292 single base substitution A G intron_variant ESAD-UK 13 35639292 35639292 single base substitution A G upstream_gene_variant ESAD-UK 13 35639352 35639352 single base substitution G C intron_variant ESAD-UK 13 35639352 35639352 single base substitution G C upstream_gene_variant ESAD-UK 13 35639391 35639391 single base substitution T A intron_variant ESAD-UK 13 35639391 35639391 single base substitution T A upstream_gene_variant ESAD-UK 13 35639611 35639611 single base substitution T C intron_variant ESAD-UK 13 35639611 35639611 single base substitution T C upstream_gene_variant ESAD-UK 13 35640614 35640614 single base substitution T A intron_variant ESAD-UK 13 35640614 35640614 single base substitution T A upstream_gene_variant ESAD-UK 13 35640783 35640783 single base substitution T C intron_variant ESAD-UK 13 35640783 35640783 single base substitution T C upstream_gene_variant ESAD-UK 13 35641278 35641278 single base substitution T G intron_variant ESAD-UK 13 35641278 35641278 single base substitution T G upstream_gene_variant ESAD-UK 13 35641393 35641393 single base substitution G T intron_variant ESAD-UK 13 35641393 35641393 single base substitution G T upstream_gene_variant ESAD-UK 13 35642941 35642941 single base substitution C T intron_variant ESAD-UK 13 35642941 35642941 single base substitution C T upstream_gene_variant ESAD-UK 13 35643060 35643060 single base substitution G T intron_variant ESAD-UK 13 35643060 35643060 single base substitution G T upstream_gene_variant ESAD-UK 13 35643071 35643071 single base substitution T G intron_variant ESAD-UK 13 35643071 35643071 single base substitution T G upstream_gene_variant ESAD-UK 13 35643727 35643727 single base substitution C G intron_variant ESAD-UK 13 35643727 35643727 single base substitution C G upstream_gene_variant ESAD-UK 13 35643778 35643778 single base substitution T A intron_variant ESAD-UK 13 35643778 35643778 single base substitution T A upstream_gene_variant ESAD-UK 13 35643822 35643822 single base substitution T G intron_variant ESAD-UK 13 35643822 35643822 single base substitution T G upstream_gene_variant ESAD-UK 13 35644126 35644126 single base substitution A C exon_variant ESAD-UK 13 35644126 35644126 single base substitution A C missense_variant S441R 1321A>C ESAD-UK 13 35644504 35644504 single base substitution G C intron_variant ESAD-UK 13 35644756 35644756 single base substitution A C intron_variant ESAD-UK 13 35644782 35644782 single base substitution G A intron_variant ESAD-UK 13 35645446 35645446 single base substitution A C downstream_gene_variant ESAD-UK 13 35645446 35645446 single base substitution A C intron_variant ESAD-UK 13 35645747 35645747 single base substitution T C downstream_gene_variant ESAD-UK 13 35645747 35645747 single base substitution T C intron_variant ESAD-UK 13 35646764 35646764 single base substitution T A downstream_gene_variant ESAD-UK 13 35646764 35646764 single base substitution T A intron_variant ESAD-UK 13 35647346 35647346 single base substitution A C downstream_gene_variant ESAD-UK 13 35647346 35647346 single base substitution A C intron_variant ESAD-UK 13 35647350 35647350 single base substitution T G downstream_gene_variant ESAD-UK 13 35647350 35647350 single base substitution T G intron_variant ESAD-UK 13 35647842 35647842 single base substitution C T downstream_gene_variant ESAD-UK 13 35647842 35647842 single base substitution C T intron_variant ESAD-UK 13 35647928 35647928 single base substitution A C downstream_gene_variant ESAD-UK 13 35647928 35647928 single base substitution A C intron_variant ESAD-UK 13 35648571 35648571 insertion of <=200bp - C downstream_gene_variant ESAD-UK 13 35648571 35648571 insertion of <=200bp - C intron_variant ESAD-UK 13 35648670 35648670 single base substitution C T downstream_gene_variant ESAD-UK 13 35648670 35648670 single base substitution C T intron_variant ESAD-UK 13 35648868 35648868 single base substitution A T downstream_gene_variant ESAD-UK 13 35648868 35648868 single base substitution A T intron_variant ESAD-UK 13 35648951 35648951 single base substitution G T downstream_gene_variant ESAD-UK 13 35648951 35648951 single base substitution G T intron_variant ESAD-UK 13 35649041 35649041 single base substitution G T downstream_gene_variant ESAD-UK 13 35649041 35649041 single base substitution G T intron_variant ESAD-UK 13 35649349 35649349 single base substitution G T downstream_gene_variant ESAD-UK 13 35649349 35649349 single base substitution G T intron_variant ESAD-UK 13 35649457 35649457 single base substitution T A downstream_gene_variant ESAD-UK 13 35649457 35649457 single base substitution T A intron_variant ESAD-UK 13 35649599 35649599 single base substitution A C downstream_gene_variant ESAD-UK 13 35649599 35649599 single base substitution A C intron_variant ESAD-UK 13 35649844 35649844 single base substitution C A downstream_gene_variant ESAD-UK 13 35649844 35649844 single base substitution C A intron_variant ESAD-UK 13 35650095 35650095 single base substitution G A downstream_gene_variant ESAD-UK 13 35650095 35650095 single base substitution G A intron_variant ESAD-UK 13 35651257 35651257 single base substitution A G intron_variant ESAD-UK 13 35651320 35651320 single base substitution G T intron_variant ESAD-UK 13 35652056 35652056 single base substitution G T intron_variant ESAD-UK 13 35652132 35652132 single base substitution T C intron_variant ESAD-UK 13 35652152 35652152 single base substitution T G intron_variant ESAD-UK 13 35652595 35652595 single base substitution A C intron_variant ESAD-UK 13 35652907 35652907 single base substitution T G intron_variant ESAD-UK 13 35653078 35653078 single base substitution G C intron_variant ESAD-UK 13 35653221 35653221 single base substitution T A intron_variant ESAD-UK 13 35653238 35653238 single base substitution C T intron_variant ESAD-UK 13 35653368 35653368 deletion of <=200bp A - intron_variant ESAD-UK 13 35653716 35653716 single base substitution T G intron_variant ESAD-UK 13 35653806 35653806 single base substitution T G intron_variant ESAD-UK 13 35654283 35654283 single base substitution A C intron_variant ESAD-UK 13 35654523 35654523 single base substitution T G intron_variant ESAD-UK 13 35654769 35654769 single base substitution G C intron_variant ESAD-UK 13 35654902 35654902 single base substitution A C intron_variant ESAD-UK 13 35655455 35655455 single base substitution A C intron_variant ESAD-UK 13 35655605 35655605 single base substitution T G intron_variant ESAD-UK 13 35656005 35656005 single base substitution G A intron_variant ESAD-UK 13 35657384 35657384 single base substitution T C intron_variant ESAD-UK 13 35657431 35657431 single base substitution A G intron_variant ESAD-UK 13 35657462 35657462 single base substitution G T intron_variant ESAD-UK 13 35657507 35657507 single base substitution T G intron_variant ESAD-UK 13 35657530 35657530 single base substitution A G intron_variant ESAD-UK 13 35657643 35657643 single base substitution A C intron_variant ESAD-UK 13 35657960 35657960 single base substitution A C intron_variant ESAD-UK 13 35658041 35658041 single base substitution A G intron_variant ESAD-UK 13 35658508 35658508 single base substitution A C intron_variant ESAD-UK 13 35658651 35658651 single base substitution A C intron_variant ESAD-UK 13 35659654 35659654 single base substitution T C intron_variant ESAD-UK 13 35660026 35660026 single base substitution A G intron_variant ESAD-UK 13 35660292 35660292 single base substitution C A intron_variant ESAD-UK 13 35660988 35660988 single base substitution A C intron_variant ESAD-UK 13 35660988 35660988 single base substitution A G intron_variant ESAD-UK 13 35661333 35661333 single base substitution T C intron_variant ESAD-UK 13 35661383 35661383 single base substitution A C intron_variant ESAD-UK 13 35661384 35661384 single base substitution A C intron_variant ESAD-UK 13 35661530 35661530 single base substitution A C intron_variant ESAD-UK 13 35661567 35661567 single base substitution A C intron_variant ESAD-UK 13 35661643 35661643 single base substitution T G intron_variant ESAD-UK 13 35661692 35661692 single base substitution A C intron_variant ESAD-UK 13 35661732 35661732 single base substitution A G intron_variant ESAD-UK 13 35661936 35661936 single base substitution T G intron_variant ESAD-UK 13 35661973 35661973 single base substitution C A intron_variant ESAD-UK 13 35661994 35661994 single base substitution A C intron_variant ESAD-UK 13 35662057 35662057 single base substitution A C intron_variant ESAD-UK 13 35662065 35662065 single base substitution A C intron_variant ESAD-UK 13 35662194 35662194 single base substitution G T intron_variant ESAD-UK 13 35662708 35662708 single base substitution A C intron_variant ESAD-UK 13 35662708 35662708 single base substitution A G intron_variant ESAD-UK 13 35664583 35664583 single base substitution G A intron_variant ESAD-UK 13 35664826 35664826 single base substitution T C intron_variant ESAD-UK 13 35665940 35665940 single base substitution A C intron_variant ESAD-UK 13 35666268 35666268 single base substitution T G intron_variant ESAD-UK 13 35666472 35666472 single base substitution G A intron_variant ESAD-UK 13 35667409 35667409 single base substitution A C intron_variant ESAD-UK 13 35668255 35668255 single base substitution C T intron_variant ESAD-UK 13 35668350 35668350 single base substitution T A intron_variant ESAD-UK 13 35668605 35668605 single base substitution G A intron_variant ESAD-UK 13 35669173 35669173 single base substitution A C intron_variant ESAD-UK 13 35669225 35669225 single base substitution T G intron_variant ESAD-UK 13 35670514 35670514 single base substitution A G intron_variant ESAD-UK 13 35670665 35670665 single base substitution C T intron_variant ESAD-UK 13 35671355 35671355 single base substitution T C intron_variant ESAD-UK 13 35671569 35671569 single base substitution A G intron_variant ESAD-UK 13 35672071 35672071 single base substitution A C intron_variant ESAD-UK 13 35672161 35672161 single base substitution A C intron_variant ESAD-UK 13 35672213 35672213 single base substitution G A intron_variant ESAD-UK 13 35672673 35672673 single base substitution C T intron_variant ESAD-UK 13 35672743 35672743 single base substitution A G intron_variant ESAD-UK 13 35673141 35673141 single base substitution T C intron_variant ESAD-UK 13 35673684 35673684 single base substitution C G intron_variant ESAD-UK 13 35673933 35673933 single base substitution G T intron_variant ESAD-UK 13 35674620 35674620 single base substitution T G intron_variant ESAD-UK 13 35674842 35674842 single base substitution T C intron_variant ESAD-UK 13 35675077 35675077 single base substitution A C intron_variant ESAD-UK 13 35675631 35675631 single base substitution G A intron_variant ESAD-UK 13 35676293 35676293 deletion of <=200bp T - intron_variant ESAD-UK 13 35676410 35676410 deletion of <=200bp T - intron_variant ESAD-UK 13 35676459 35676459 insertion of <=200bp - T intron_variant ESAD-UK 13 35677307 35677307 single base substitution T G intron_variant ESAD-UK 13 35677549 35677549 single base substitution T G intron_variant ESAD-UK 13 35677839 35677839 single base substitution T C intron_variant ESAD-UK 13 35677851 35677851 single base substitution G A intron_variant ESAD-UK 13 35678553 35678553 single base substitution G T intron_variant ESAD-UK 13 35679277 35679277 single base substitution C T intron_variant ESAD-UK 13 35679532 35679532 single base substitution A G intron_variant ESAD-UK 13 35679966 35679966 single base substitution T C intron_variant ESAD-UK 13 35680008 35680008 single base substitution A G intron_variant ESAD-UK 13 35680253 35680253 single base substitution A C intron_variant ESAD-UK 13 35680547 35680547 single base substitution G C intron_variant ESAD-UK 13 35680732 35680732 single base substitution A G intron_variant ESAD-UK 13 35681414 35681414 insertion of <=200bp - C intron_variant ESAD-UK 13 35681471 35681471 single base substitution A C intron_variant ESAD-UK 13 35681767 35681767 single base substitution T G intron_variant ESAD-UK 13 35681847 35681847 single base substitution T G intron_variant ESAD-UK 13 35682000 35682000 single base substitution T G intron_variant ESAD-UK 13 35682241 35682241 single base substitution A T intron_variant ESAD-UK 13 35682435 35682435 single base substitution A C intron_variant ESAD-UK 13 35682592 35682592 single base substitution A G intron_variant ESAD-UK 13 35682752 35682752 single base substitution C T intron_variant ESAD-UK 13 35682898 35682898 single base substitution T C intron_variant ESAD-UK 13 35683223 35683223 single base substitution T G intron_variant ESAD-UK 13 35683559 35683559 single base substitution T C missense_variant W605R 1813T>C ESAD-UK 13 35683594 35683594 single base substitution C A intron_variant ESAD-UK 13 35684975 35684975 single base substitution C A missense_variant S621Y 1862C>A ESAD-UK 13 35686121 35686121 single base substitution T C intron_variant ESAD-UK 13 35686161 35686161 single base substitution C T intron_variant ESAD-UK 13 35686265 35686265 single base substitution A T intron_variant ESAD-UK 13 35686266 35686266 single base substitution G T intron_variant ESAD-UK 13 35687596 35687596 single base substitution T G intron_variant ESAD-UK 13 35687883 35687883 single base substitution A C intron_variant ESAD-UK 13 35687963 35687963 single base substitution T C intron_variant ESAD-UK 13 35688054 35688054 single base substitution G A intron_variant ESAD-UK 13 35688156 35688156 single base substitution T C intron_variant ESAD-UK 13 35688206 35688206 single base substitution A C intron_variant ESAD-UK 13 35688284 35688284 single base substitution C T intron_variant ESAD-UK 13 35688656 35688656 single base substitution T A intron_variant ESAD-UK 13 35689962 35689962 single base substitution C A intron_variant ESAD-UK 13 35691175 35691175 single base substitution T G intron_variant ESAD-UK 13 35691709 35691709 single base substitution T G intron_variant ESAD-UK 13 35691753 35691753 single base substitution C G intron_variant ESAD-UK 13 35691863 35691863 single base substitution A C intron_variant ESAD-UK 13 35692114 35692114 single base substitution A C intron_variant ESAD-UK 13 35692383 35692383 single base substitution G C missense_variant D701H 2101G>C ESAD-UK 13 35693003 35693003 insertion of <=200bp - T intron_variant ESAD-UK 13 35693146 35693146 single base substitution G A intron_variant ESAD-UK 13 35693356 35693356 single base substitution G C intron_variant ESAD-UK 13 35693953 35693953 single base substitution C T intron_variant ESAD-UK 13 35694198 35694198 single base substitution T G intron_variant ESAD-UK 13 35695028 35695028 single base substitution C A intron_variant ESAD-UK 13 35695314 35695314 single base substitution T C intron_variant ESAD-UK 13 35695494 35695494 single base substitution T G intron_variant ESAD-UK 13 35695527 35695527 single base substitution A T intron_variant ESAD-UK 13 35695570 35695570 single base substitution T C intron_variant ESAD-UK 13 35695997 35695997 single base substitution T C intron_variant ESAD-UK 13 35696134 35696134 single base substitution C A intron_variant ESAD-UK 13 35696143 35696143 single base substitution T C intron_variant ESAD-UK 13 35696292 35696292 single base substitution G T intron_variant ESAD-UK 13 35696352 35696352 insertion of <=200bp - A intron_variant ESAD-UK 13 35696822 35696822 single base substitution G A intron_variant ESAD-UK 13 35696916 35696916 single base substitution T C intron_variant ESAD-UK 13 35697208 35697208 single base substitution C T intron_variant ESAD-UK 13 35697512 35697512 single base substitution T G intron_variant ESAD-UK 13 35697711 35697711 single base substitution A C missense_variant K779T 2336A>C ESAD-UK 13 35697711 35697711 single base substitution A T missense_variant K779M 2336A>T ESAD-UK 13 35697794 35697794 single base substitution A G intron_variant ESAD-UK 13 35698991 35698991 single base substitution A G intron_variant ESAD-UK 13 35699300 35699300 deletion of <=200bp A - intron_variant ESAD-UK 13 35699370 35699370 single base substitution C T intron_variant ESAD-UK 13 35699487 35699487 single base substitution G A intron_variant ESAD-UK 13 35700410 35700410 single base substitution A T intron_variant ESAD-UK 13 35700699 35700699 single base substitution T A intron_variant ESAD-UK 13 35701565 35701565 single base substitution A C intron_variant ESAD-UK 13 35701613 35701613 single base substitution C G intron_variant ESAD-UK 13 35702007 35702007 single base substitution A G intron_variant ESAD-UK 13 35702378 35702378 insertion of <=200bp - T intron_variant ESAD-UK 13 35703447 35703447 single base substitution A T intron_variant ESAD-UK 13 35703968 35703968 single base substitution A C intron_variant ESAD-UK 13 35704135 35704135 single base substitution T A intron_variant ESAD-UK 13 35704845 35704845 single base substitution G A intron_variant ESAD-UK 13 35704953 35704953 single base substitution C A intron_variant ESAD-UK 13 35705254 35705254 single base substitution A G intron_variant ESAD-UK 13 35705354 35705354 single base substitution A C intron_variant ESAD-UK 13 35705612 35705612 single base substitution T G intron_variant ESAD-UK 13 35705989 35705989 single base substitution A C intron_variant ESAD-UK 13 35707269 35707269 single base substitution C T intron_variant ESAD-UK 13 35708030 35708030 single base substitution A C intron_variant ESAD-UK 13 35708283 35708283 single base substitution A T intron_variant ESAD-UK 13 35708598 35708598 single base substitution T C intron_variant ESAD-UK 13 35708612 35708612 single base substitution A G intron_variant ESAD-UK 13 35709393 35709393 single base substitution A C intron_variant ESAD-UK 13 35709759 35709759 single base substitution A G intron_variant ESAD-UK 13 35709822 35709822 single base substitution A C intron_variant ESAD-UK 13 35709907 35709907 single base substitution T C intron_variant ESAD-UK 13 35709911 35709911 insertion of <=200bp - TA intron_variant ESAD-UK 13 35709928 35709928 single base substitution G T intron_variant ESAD-UK 13 35710068 35710068 single base substitution G T intron_variant ESAD-UK 13 35710337 35710337 single base substitution T G intron_variant ESAD-UK 13 35710441 35710441 single base substitution T A intron_variant ESAD-UK 13 35710747 35710747 single base substitution A T intron_variant ESAD-UK 13 35711289 35711289 single base substitution T A intron_variant ESAD-UK 13 35711312 35711312 single base substitution G C intron_variant ESAD-UK 13 35712734 35712734 single base substitution T C intron_variant ESAD-UK 13 35712742 35712742 single base substitution G A intron_variant ESAD-UK 13 35713470 35713470 single base substitution T A intron_variant ESAD-UK 13 35713475 35713475 single base substitution G A intron_variant ESAD-UK 13 35714016 35714016 single base substitution A G intron_variant ESAD-UK 13 35714170 35714170 single base substitution C A intron_variant ESAD-UK 13 35714270 35714270 single base substitution T C intron_variant ESAD-UK 13 35714575 35714575 single base substitution T C intron_variant ESAD-UK 13 35715404 35715404 single base substitution T C intron_variant ESAD-UK 13 35715406 35715406 insertion of <=200bp - T intron_variant ESAD-UK 13 35715512 35715512 single base substitution T G intron_variant ESAD-UK 13 35715679 35715679 single base substitution G T intron_variant ESAD-UK 13 35715947 35715947 single base substitution T G intron_variant ESAD-UK 13 35716869 35716869 single base substitution T C intron_variant ESAD-UK 13 35716887 35716887 single base substitution A C intron_variant ESAD-UK 13 35718816 35718816 single base substitution C T intron_variant ESAD-UK 13 35718963 35718963 single base substitution T A intron_variant ESAD-UK 13 35719666 35719666 single base substitution T C intron_variant ESAD-UK 13 35719971 35719971 single base substitution A C intron_variant ESAD-UK 13 35720064 35720064 single base substitution T G intron_variant ESAD-UK 13 35720344 35720344 single base substitution G A intron_variant ESAD-UK 13 35720504 35720504 single base substitution T G intron_variant ESAD-UK 13 35720806 35720806 single base substitution A G intron_variant ESAD-UK 13 35721043 35721043 single base substitution T G intron_variant ESAD-UK 13 35721953 35721953 single base substitution T G intron_variant ESAD-UK 13 35722226 35722226 single base substitution C T intron_variant ESAD-UK 13 35722323 35722323 single base substitution G C intron_variant ESAD-UK 13 35722391 35722391 single base substitution T C intron_variant ESAD-UK 13 35723818 35723818 single base substitution A C intron_variant ESAD-UK 13 35724877 35724877 single base substitution A C intron_variant ESAD-UK 13 35724959 35724959 single base substitution A T intron_variant ESAD-UK 13 35725549 35725549 single base substitution G A intron_variant ESAD-UK 13 35725746 35725746 single base substitution T C intron_variant ESAD-UK 13 35725771 35725771 single base substitution T A intron_variant ESAD-UK 13 35726402 35726402 single base substitution C G intron_variant ESAD-UK 13 35726455 35726455 single base substitution G T intron_variant ESAD-UK 13 35728235 35728235 single base substitution G A intron_variant ESAD-UK 13 35728279 35728279 single base substitution T C intron_variant ESAD-UK 13 35728588 35728588 single base substitution G T intron_variant ESAD-UK 13 35728879 35728879 deletion of <=200bp T - intron_variant ESAD-UK 13 35730538 35730538 single base substitution C T intron_variant ESAD-UK 13 35730970 35730970 single base substitution A C intron_variant ESAD-UK 13 35730977 35730977 single base substitution A C intron_variant ESAD-UK 13 35731489 35731489 single base substitution T C intron_variant ESAD-UK 13 35731489 35731489 single base substitution T G intron_variant ESAD-UK 13 35733005 35733005 single base substitution A G intron_variant ESAD-UK 13 35733063 35733063 single base substitution T G intron_variant ESAD-UK 13 35733894 35733894 single base substitution T G missense_variant L1196V 3586T>G ESAD-UK 13 35733986 35733986 single base substitution G A synonymous_variant A1226A 3678G>A ESAD-UK 13 35734057 35734057 single base substitution A C missense_variant K1250T 3749A>C ESAD-UK 13 35734294 35734294 single base substitution T C intron_variant ESAD-UK 13 35735300 35735300 single base substitution C T intron_variant ESAD-UK 13 35735701 35735701 single base substitution G A intron_variant ESAD-UK 13 35735966 35735966 single base substitution A C missense_variant E1314A 3941A>C ESAD-UK 13 35736884 35736884 single base substitution T G intron_variant ESAD-UK 13 35737238 35737238 single base substitution G A intron_variant ESAD-UK 13 35737621 35737621 single base substitution T C intron_variant ESAD-UK 13 35738171 35738171 insertion of <=200bp - A intron_variant ESAD-UK 13 35738252 35738252 single base substitution A G intron_variant ESAD-UK 13 35738555 35738555 single base substitution A G missense_variant N1381S 4142A>G ESAD-UK 13 35738785 35738785 single base substitution T G intron_variant ESAD-UK 13 35739347 35739347 single base substitution G C intron_variant ESAD-UK 13 35740073 35740073 single base substitution C T intron_variant ESAD-UK 13 35740110 35740110 single base substitution C T intron_variant ESAD-UK 13 35740319 35740319 single base substitution C T intron_variant ESAD-UK 13 35740669 35740669 single base substitution C A intron_variant ESAD-UK 13 35740807 35740807 single base substitution C T intron_variant ESAD-UK 13 35741063 35741063 single base substitution A C intron_variant ESAD-UK 13 35741177 35741177 insertion of <=200bp - TA intron_variant ESAD-UK 13 35741318 35741318 single base substitution A G intron_variant ESAD-UK 13 35741577 35741577 insertion of <=200bp - A intron_variant ESAD-UK 13 35741770 35741770 deletion of <=200bp A - intron_variant ESAD-UK 13 35741858 35741858 single base substitution G C intron_variant ESAD-UK 13 35743720 35743720 single base substitution A T intron_variant ESAD-UK 13 35744287 35744287 single base substitution C G intron_variant ESAD-UK 13 35744333 35744333 single base substitution T G intron_variant ESAD-UK 13 35745043 35745043 single base substitution G A intron_variant ESAD-UK 13 35747280 35747280 single base substitution A C intron_variant ESAD-UK 13 35748310 35748310 single base substitution C T intron_variant ESAD-UK 13 35749791 35749791 single base substitution C T intron_variant ESAD-UK 13 35750226 35750226 single base substitution T G intron_variant ESAD-UK 13 35750375 35750375 single base substitution C T intron_variant ESAD-UK 13 35750865 35750865 single base substitution G T intron_variant ESAD-UK 13 35751035 35751035 single base substitution G T intron_variant ESAD-UK 13 35751091 35751091 single base substitution C G intron_variant ESAD-UK 13 35751200 35751200 single base substitution T G missense_variant V1538G 4613T>G ESAD-UK 13 35751200 35751200 single base substitution T G missense_variant V1541G 4622T>G ESAD-UK 13 35752018 35752018 single base substitution A G intron_variant ESAD-UK 13 35752708 35752708 single base substitution G A intron_variant ESAD-UK 13 35753479 35753479 single base substitution C A intron_variant ESAD-UK 13 35753709 35753709 single base substitution T C intron_variant ESAD-UK 13 35754206 35754206 single base substitution A T intron_variant ESAD-UK 13 35754764 35754764 single base substitution A G intron_variant ESAD-UK 13 35755358 35755358 single base substitution T G intron_variant ESAD-UK 13 35755412 35755412 single base substitution T C intron_variant ESAD-UK 13 35756168 35756168 single base substitution A C intron_variant ESAD-UK 13 35756481 35756481 single base substitution T A intron_variant ESAD-UK 13 35757376 35757376 single base substitution T G intron_variant ESAD-UK 13 35757605 35757605 single base substitution T G intron_variant ESAD-UK 13 35757718 35757718 single base substitution G T intron_variant ESAD-UK 13 35757950 35757950 single base substitution T C intron_variant ESAD-UK 13 35758189 35758189 single base substitution T G missense_variant F1633L 4899T>G ESAD-UK 13 35758189 35758189 single base substitution T G missense_variant F1636L 4908T>G ESAD-UK 13 35758828 35758828 single base substitution T G intron_variant ESAD-UK 13 35759152 35759152 single base substitution G A intron_variant ESAD-UK 13 35760165 35760165 single base substitution G C intron_variant ESAD-UK 13 35760208 35760208 single base substitution A C intron_variant ESAD-UK 13 35761715 35761715 single base substitution C A intron_variant ESAD-UK 13 35761748 35761748 single base substitution A G intron_variant ESAD-UK 13 35761968 35761968 single base substitution T G intron_variant ESAD-UK 13 35762791 35762791 single base substitution A G intron_variant ESAD-UK 13 35762946 35762946 single base substitution A G intron_variant ESAD-UK 13 35763830 35763830 single base substitution G A intron_variant ESAD-UK 13 35764280 35764280 single base substitution T C intron_variant ESAD-UK 13 35767488 35767488 single base substitution G A intron_variant ESAD-UK 13 35767565 35767565 single base substitution T G intron_variant ESAD-UK 13 35767857 35767857 single base substitution C T intron_variant ESAD-UK 13 35767994 35767994 single base substitution C T intron_variant ESAD-UK 13 35768361 35768361 single base substitution T C intron_variant ESAD-UK 13 35769045 35769045 single base substitution A C intron_variant ESAD-UK 13 35769962 35769962 single base substitution T A intron_variant ESAD-UK 13 35771457 35771457 insertion of <=200bp - T intron_variant ESAD-UK 13 35771564 35771564 single base substitution C G intron_variant ESAD-UK 13 35771797 35771797 single base substitution G T intron_variant ESAD-UK 13 35773063 35773063 single base substitution A G intron_variant ESAD-UK 13 35773401 35773401 single base substitution T C intron_variant ESAD-UK 13 35773685 35773685 single base substitution T C intron_variant ESAD-UK 13 35774269 35774269 deletion of <=200bp A - intron_variant ESAD-UK 13 35774798 35774798 single base substitution G A intron_variant ESAD-UK 13 35775259 35775259 single base substitution C T intron_variant ESAD-UK 13 35775267 35775267 single base substitution T G intron_variant ESAD-UK 13 35775326 35775326 single base substitution A G intron_variant ESAD-UK 13 35775329 35775329 single base substitution T G intron_variant ESAD-UK 13 35775531 35775531 single base substitution A C intron_variant ESAD-UK 13 35776507 35776507 single base substitution T G intron_variant ESAD-UK 13 35776867 35776867 single base substitution C A intron_variant ESAD-UK 13 35776878 35776878 single base substitution T C intron_variant ESAD-UK 13 35777867 35777867 single base substitution C A intron_variant ESAD-UK 13 35778621 35778621 single base substitution C T intron_variant ESAD-UK 13 35778811 35778811 single base substitution G A intron_variant ESAD-UK 13 35779515 35779515 deletion of <=200bp T - intron_variant ESAD-UK 13 35779748 35779748 single base substitution G A intron_variant ESAD-UK 13 35779876 35779876 single base substitution C T intron_variant ESAD-UK 13 35780496 35780496 single base substitution T G intron_variant ESAD-UK 13 35780710 35780710 single base substitution C T intron_variant ESAD-UK 13 35780838 35780838 single base substitution A C intron_variant ESAD-UK 13 35781652 35781652 single base substitution C G intron_variant ESAD-UK 13 35781695 35781695 single base substitution T C intron_variant ESAD-UK 13 35781769 35781769 single base substitution C G intron_variant ESAD-UK 13 35781989 35781989 single base substitution T G intron_variant ESAD-UK 13 35782481 35782481 single base substitution T C intron_variant ESAD-UK 13 35782653 35782653 single base substitution A T intron_variant ESAD-UK 13 35783345 35783345 single base substitution T C intron_variant ESAD-UK 13 35783414 35783414 single base substitution G T intron_variant ESAD-UK 13 35784865 35784865 single base substitution A C intron_variant ESAD-UK 13 35785649 35785649 single base substitution A C intron_variant ESAD-UK 13 35786188 35786188 single base substitution A C intron_variant ESAD-UK 13 35786380 35786380 single base substitution T A intron_variant ESAD-UK 13 35786381 35786381 single base substitution G T intron_variant ESAD-UK 13 35786382 35786382 single base substitution T G intron_variant ESAD-UK 13 35786788 35786788 single base substitution T C intron_variant ESAD-UK 13 35786890 35786890 insertion of <=200bp - G intron_variant ESAD-UK 13 35787012 35787012 deletion of <=200bp T - intron_variant ESAD-UK 13 35787036 35787036 insertion of <=200bp - T intron_variant ESAD-UK 13 35787476 35787476 single base substitution C G intron_variant ESAD-UK 13 35787872 35787872 single base substitution T G intron_variant ESAD-UK 13 35787910 35787910 deletion of <=200bp A - intron_variant ESAD-UK 13 35788024 35788024 single base substitution T A intron_variant ESAD-UK 13 35788817 35788817 single base substitution A C intron_variant ESAD-UK 13 35789041 35789041 single base substitution T C intron_variant ESAD-UK 13 35789293 35789293 single base substitution T G intron_variant ESAD-UK 13 35789530 35789530 single base substitution T C intron_variant ESAD-UK 13 35789683 35789683 single base substitution G C intron_variant ESAD-UK 13 35789794 35789794 single base substitution C T intron_variant ESAD-UK 13 35790205 35790205 insertion of <=200bp - T intron_variant ESAD-UK 13 35791031 35791031 single base substitution G T intron_variant ESAD-UK 13 35791280 35791280 single base substitution T A intron_variant ESAD-UK 13 35791344 35791344 single base substitution T C intron_variant ESAD-UK 13 35791570 35791570 single base substitution C T intron_variant ESAD-UK 13 35791588 35791588 single base substitution T G intron_variant ESAD-UK 13 35791695 35791695 single base substitution T G intron_variant ESAD-UK 13 35791807 35791807 single base substitution T G intron_variant ESAD-UK 13 35792353 35792353 single base substitution T G intron_variant ESAD-UK 13 35792427 35792427 single base substitution C T intron_variant ESAD-UK 13 35792915 35792915 single base substitution T G intron_variant ESAD-UK 13 35793453 35793453 single base substitution T G intron_variant ESAD-UK 13 35793740 35793740 single base substitution G A intron_variant ESAD-UK 13 35793916 35793916 single base substitution A G intron_variant ESAD-UK 13 35795002 35795002 single base substitution T A intron_variant ESAD-UK 13 35795254 35795254 single base substitution G T intron_variant ESAD-UK 13 35795359 35795359 single base substitution T A intron_variant ESAD-UK 13 35795755 35795755 insertion of <=200bp - A intron_variant ESAD-UK 13 35795779 35795779 single base substitution A C intron_variant ESAD-UK 13 35795915 35795915 single base substitution T G intron_variant ESAD-UK 13 35795934 35795934 single base substitution C A intron_variant ESAD-UK 13 35796123 35796123 single base substitution A C intron_variant ESAD-UK 13 35796631 35796631 single base substitution G A intron_variant ESAD-UK 13 35796796 35796796 single base substitution T C intron_variant ESAD-UK 13 35797280 35797280 single base substitution A T intron_variant ESAD-UK 13 35797316 35797316 single base substitution A C intron_variant ESAD-UK 13 35797341 35797341 single base substitution A G intron_variant ESAD-UK 13 35798345 35798345 single base substitution C G intron_variant ESAD-UK 13 35798372 35798372 single base substitution A T intron_variant ESAD-UK 13 35798814 35798814 single base substitution A C intron_variant ESAD-UK 13 35799892 35799892 single base substitution T A intron_variant ESAD-UK 13 35800052 35800052 single base substitution T G intron_variant ESAD-UK 13 35801537 35801537 single base substitution A T intron_variant ESAD-UK 13 35801601 35801601 single base substitution G A intron_variant ESAD-UK 13 35802219 35802219 single base substitution T C intron_variant ESAD-UK 13 35802338 35802338 single base substitution A C intron_variant ESAD-UK 13 35802565 35802565 single base substitution G T intron_variant ESAD-UK 13 35802741 35802741 single base substitution A G intron_variant ESAD-UK 13 35804354 35804354 single base substitution T C intron_variant ESAD-UK 13 35804801 35804801 single base substitution A G intron_variant ESAD-UK 13 35805028 35805028 single base substitution C T intron_variant ESAD-UK 13 35805504 35805504 single base substitution T G intron_variant ESAD-UK 13 35806482 35806482 single base substitution G A intron_variant ESAD-UK 13 35806771 35806771 single base substitution T A intron_variant ESAD-UK 13 35806865 35806865 single base substitution T G intron_variant ESAD-UK 13 35807419 35807419 single base substitution G A intron_variant ESAD-UK 13 35807828 35807828 single base substitution G A intron_variant ESAD-UK 13 35808220 35808220 single base substitution A C intron_variant ESAD-UK 13 35808249 35808249 single base substitution A T intron_variant ESAD-UK 13 35808489 35808489 single base substitution T G intron_variant ESAD-UK 13 35809042 35809042 single base substitution C T intron_variant ESAD-UK 13 35809075 35809075 single base substitution T A intron_variant ESAD-UK 13 35809201 35809201 single base substitution A T intron_variant ESAD-UK 13 35809249 35809249 single base substitution A G intron_variant ESAD-UK 13 35810755 35810755 single base substitution T A intron_variant ESAD-UK 13 35810756 35810756 single base substitution T A intron_variant ESAD-UK 13 35810759 35810759 single base substitution T A intron_variant ESAD-UK 13 35810980 35810980 single base substitution T C intron_variant ESAD-UK 13 35811081 35811081 single base substitution T G intron_variant ESAD-UK 13 35811415 35811415 single base substitution A C intron_variant ESAD-UK 13 35811473 35811473 single base substitution T G intron_variant ESAD-UK 13 35811503 35811503 single base substitution T G intron_variant ESAD-UK 13 35811915 35811915 single base substitution T G intron_variant ESAD-UK 13 35811973 35811973 single base substitution T A intron_variant ESAD-UK 13 35812695 35812695 single base substitution T C intron_variant ESAD-UK 13 35812920 35812920 single base substitution C T intron_variant ESAD-UK 13 35813384 35813384 single base substitution A C intron_variant ESAD-UK 13 35813463 35813463 single base substitution T C intron_variant ESAD-UK 13 35813585 35813585 single base substitution A G intron_variant ESAD-UK 13 35813779 35813779 single base substitution T G intron_variant ESAD-UK 13 35814296 35814296 single base substitution G T intron_variant ESAD-UK 13 35814404 35814404 single base substitution A G intron_variant ESAD-UK 13 35816651 35816651 single base substitution T G intron_variant ESAD-UK 13 35816780 35816780 single base substitution A G intron_variant ESAD-UK 13 35816992 35816992 single base substitution A C intron_variant ESAD-UK 13 35817100 35817100 single base substitution A T intron_variant ESAD-UK 13 35817916 35817916 insertion of <=200bp - A intron_variant ESAD-UK 13 35818222 35818222 single base substitution A G intron_variant ESAD-UK 13 35819491 35819491 deletion of <=200bp T - intron_variant ESAD-UK 13 35819591 35819591 single base substitution T G intron_variant ESAD-UK 13 35819708 35819708 single base substitution T A intron_variant ESAD-UK 13 35819884 35819884 single base substitution C A intron_variant ESAD-UK 13 35819925 35819925 single base substitution T A intron_variant ESAD-UK 13 35819951 35819951 single base substitution G T intron_variant ESAD-UK 13 35820500 35820500 single base substitution T G intron_variant ESAD-UK 13 35821142 35821142 single base substitution T G intron_variant ESAD-UK 13 35821817 35821817 single base substitution C T intron_variant ESAD-UK 13 35822187 35822187 single base substitution A G intron_variant ESAD-UK 13 35822527 35822527 deletion of <=200bp A - intron_variant ESAD-UK 13 35822588 35822588 single base substitution T G intron_variant ESAD-UK 13 35822776 35822776 single base substitution T G intron_variant ESAD-UK 13 35822816 35822816 single base substitution T G intron_variant ESAD-UK 13 35822919 35822919 single base substitution A C intron_variant ESAD-UK 13 35822921 35822921 single base substitution T G intron_variant ESAD-UK 13 35822971 35822971 single base substitution C T intron_variant ESAD-UK 13 35823013 35823013 single base substitution G A intron_variant ESAD-UK 13 35823607 35823607 single base substitution A C intron_variant ESAD-UK 13 35824171 35824171 single base substitution A C intron_variant ESAD-UK 13 35824472 35824472 single base substitution A C intron_variant ESAD-UK 13 35824563 35824563 deletion of <=200bp A - intron_variant ESAD-UK 13 35824836 35824836 single base substitution G A intron_variant ESAD-UK 13 35825072 35825072 single base substitution A C intron_variant ESAD-UK 13 35825125 35825125 single base substitution C G intron_variant ESAD-UK 13 35825339 35825339 single base substitution T G intron_variant ESAD-UK 13 35825441 35825441 single base substitution G A intron_variant ESAD-UK 13 35825914 35825914 single base substitution T C intron_variant ESAD-UK 13 35826550 35826550 single base substitution A C intron_variant ESAD-UK 13 35826797 35826797 single base substitution G A intron_variant ESAD-UK 13 35827302 35827302 insertion of <=200bp - A intron_variant ESAD-UK 13 35827330 35827330 single base substitution A T intron_variant ESAD-UK 13 35828823 35828823 single base substitution A T intron_variant ESAD-UK 13 35828897 35828897 single base substitution G A intron_variant ESAD-UK 13 35829861 35829861 single base substitution C A intron_variant ESAD-UK 13 35829875 35829875 single base substitution C A intron_variant ESAD-UK 13 35829981 35829981 single base substitution A C intron_variant ESAD-UK 13 35829992 35829992 single base substitution C A intron_variant ESAD-UK 13 35830404 35830404 single base substitution A G intron_variant ESAD-UK 13 35830511 35830511 single base substitution T C intron_variant ESAD-UK 13 35830511 35830511 single base substitution T G intron_variant ESAD-UK 13 35830857 35830857 single base substitution C A intron_variant ESAD-UK 13 35831696 35831696 single base substitution A C intron_variant ESAD-UK 13 35831934 35831934 single base substitution T G intron_variant ESAD-UK 13 35831971 35831971 single base substitution A C intron_variant ESAD-UK 13 35832191 35832191 single base substitution G A intron_variant ESAD-UK 13 35832210 35832210 single base substitution G C intron_variant ESAD-UK 13 35832369 35832369 single base substitution A C intron_variant ESAD-UK 13 35833408 35833408 single base substitution T G intron_variant ESAD-UK 13 35833967 35833967 single base substitution A C intron_variant ESAD-UK 13 35834307 35834307 single base substitution A C intron_variant ESAD-UK 13 35834504 35834504 single base substitution A C intron_variant ESAD-UK 13 35834512 35834512 single base substitution A G intron_variant ESAD-UK 13 35834742 35834742 single base substitution A C intron_variant ESAD-UK 13 35835073 35835073 single base substitution A C intron_variant ESAD-UK 13 35835139 35835139 single base substitution C A intron_variant ESAD-UK 13 35835178 35835178 single base substitution T G intron_variant ESAD-UK 13 35835393 35835393 single base substitution T A intron_variant ESAD-UK 13 35835531 35835531 single base substitution C T intron_variant ESAD-UK 13 35835594 35835594 single base substitution G A intron_variant ESAD-UK 13 35835598 35835598 single base substitution A C intron_variant ESAD-UK 13 35835598 35835598 single base substitution A G intron_variant ESAD-UK 13 35836122 35836122 single base substitution A G intron_variant ESAD-UK 13 35837433 35837433 single base substitution A C intron_variant ESAD-UK 13 35837800 35837800 single base substitution G T intron_variant ESAD-UK 13 35838113 35838113 single base substitution A G intron_variant ESAD-UK 13 35838174 35838174 single base substitution A G intron_variant ESAD-UK 13 35838814 35838814 single base substitution A C intron_variant ESAD-UK 13 35838974 35838974 single base substitution A C intron_variant ESAD-UK 13 35839000 35839000 single base substitution T G intron_variant ESAD-UK 13 35839109 35839109 single base substitution T G intron_variant ESAD-UK 13 35839573 35839573 single base substitution G T intron_variant ESAD-UK 13 35839770 35839770 single base substitution G T intron_variant ESAD-UK 13 35840949 35840949 single base substitution A C intron_variant ESAD-UK 13 35841200 35841200 single base substitution A T intron_variant ESAD-UK 13 35841329 35841329 single base substitution G A intron_variant ESAD-UK 13 35841565 35841565 single base substitution T C intron_variant ESAD-UK 13 35842730 35842730 single base substitution G A intron_variant ESAD-UK 13 35842768 35842768 single base substitution A C intron_variant ESAD-UK 13 35842977 35842977 single base substitution T G intron_variant ESAD-UK 13 35843931 35843931 single base substitution T A intron_variant ESAD-UK 13 35844467 35844467 single base substitution G C intron_variant ESAD-UK 13 35844930 35844930 single base substitution T C intron_variant ESAD-UK 13 35845119 35845119 single base substitution C T intron_variant ESAD-UK 13 35845366 35845366 single base substitution G C intron_variant ESAD-UK 13 35845406 35845406 single base substitution C T intron_variant ESAD-UK 13 35845653 35845653 single base substitution T G intron_variant ESAD-UK 13 35845744 35845744 single base substitution A C intron_variant ESAD-UK 13 35845776 35845776 single base substitution A C intron_variant ESAD-UK 13 35845821 35845821 single base substitution G T intron_variant ESAD-UK 13 35846269 35846269 single base substitution A C intron_variant ESAD-UK 13 35846918 35846918 single base substitution G T intron_variant ESAD-UK 13 35847801 35847801 single base substitution A G intron_variant ESAD-UK 13 35847865 35847865 single base substitution A G intron_variant ESAD-UK 13 35848322 35848322 single base substitution C T intron_variant ESAD-UK 13 35848663 35848663 single base substitution A G intron_variant ESAD-UK 13 35848865 35848865 single base substitution C T intron_variant ESAD-UK 13 35849327 35849327 single base substitution A C intron_variant ESAD-UK 13 35850349 35850349 single base substitution G A intron_variant ESAD-UK 13 35851459 35851459 single base substitution T G intron_variant ESAD-UK 13 35851484 35851484 single base substitution C A intron_variant ESAD-UK 13 35851485 35851485 single base substitution G A intron_variant ESAD-UK 13 35851526 35851526 single base substitution A T intron_variant ESAD-UK 13 35852174 35852174 single base substitution A C intron_variant ESAD-UK 13 35852230 35852230 insertion of <=200bp - AT intron_variant ESAD-UK 13 35852247 35852247 insertion of <=200bp - AT intron_variant ESAD-UK 13 35852492 35852492 single base substitution A C intron_variant ESAD-UK 13 35852615 35852615 single base substitution A T intron_variant ESAD-UK 13 35852800 35852800 single base substitution T C intron_variant ESAD-UK 13 35852823 35852823 single base substitution A C intron_variant ESAD-UK 13 35852854 35852854 single base substitution T G intron_variant ESAD-UK 13 35853419 35853419 single base substitution G T intron_variant ESAD-UK 13 35853678 35853678 single base substitution G C intron_variant ESAD-UK 13 35853704 35853704 single base substitution G A intron_variant ESAD-UK 13 35854273 35854273 single base substitution G A intron_variant ESAD-UK 13 35854481 35854481 single base substitution T A intron_variant ESAD-UK 13 35854499 35854499 single base substitution T G intron_variant ESAD-UK 13 35855619 35855619 single base substitution G A intron_variant ESAD-UK 13 35855683 35855683 single base substitution A C intron_variant ESAD-UK 13 35855810 35855810 single base substitution A C intron_variant ESAD-UK 13 35856344 35856344 single base substitution C T intron_variant ESAD-UK 13 35856708 35856708 single base substitution C A intron_variant ESAD-UK 13 35858463 35858463 single base substitution T A intron_variant ESAD-UK 13 35858504 35858504 single base substitution T G intron_variant ESAD-UK 13 35858855 35858855 single base substitution T G intron_variant ESAD-UK 13 35859202 35859202 single base substitution T G intron_variant ESAD-UK 13 35859417 35859417 single base substitution T G intron_variant ESAD-UK 13 35859783 35859783 single base substitution A G intron_variant ESAD-UK 13 35860170 35860170 single base substitution T G intron_variant ESAD-UK 13 35861248 35861248 single base substitution T C intron_variant ESAD-UK 13 35861741 35861741 single base substitution T A intron_variant ESAD-UK 13 35861945 35861945 single base substitution A G intron_variant ESAD-UK 13 35862153 35862153 single base substitution A C intron_variant ESAD-UK 13 35862163 35862163 single base substitution A C intron_variant ESAD-UK 13 35862620 35862620 single base substitution A G intron_variant ESAD-UK 13 35862658 35862658 single base substitution T C intron_variant ESAD-UK 13 35863679 35863679 single base substitution T C intron_variant ESAD-UK 13 35863849 35863849 single base substitution G T intron_variant ESAD-UK 13 35863966 35863966 single base substitution G A intron_variant ESAD-UK 13 35864225 35864225 single base substitution A C intron_variant ESAD-UK 13 35864290 35864290 single base substitution T G intron_variant ESAD-UK 13 35864758 35864758 single base substitution C A intron_variant ESAD-UK 13 35866282 35866282 single base substitution G A intron_variant ESAD-UK 13 35866291 35866291 single base substitution A C intron_variant ESAD-UK 13 35866313 35866313 single base substitution T C intron_variant ESAD-UK 13 35866419 35866419 single base substitution A G intron_variant ESAD-UK 13 35866457 35866457 single base substitution T G intron_variant ESAD-UK 13 35866904 35866904 single base substitution T C intron_variant ESAD-UK 13 35867380 35867380 deletion of <=200bp C - intron_variant ESAD-UK 13 35867653 35867653 single base substitution C A intron_variant ESAD-UK 13 35867715 35867715 single base substitution C T intron_variant ESAD-UK 13 35867927 35867927 single base substitution T C intron_variant ESAD-UK 13 35867981 35867981 single base substitution T C intron_variant ESAD-UK 13 35868663 35868663 single base substitution T G intron_variant ESAD-UK 13 35869010 35869010 single base substitution A C intron_variant ESAD-UK 13 35869031 35869031 single base substitution A C intron_variant ESAD-UK 13 35869609 35869609 single base substitution T C intron_variant ESAD-UK 13 35869787 35869787 single base substitution G C intron_variant ESAD-UK 13 35869825 35869825 single base substitution G T intron_variant ESAD-UK 13 35870021 35870021 single base substitution C A intron_variant ESAD-UK 13 35870367 35870367 single base substitution A C intron_variant ESAD-UK 13 35871742 35871742 single base substitution C T intron_variant ESAD-UK 13 35872093 35872093 single base substitution G T intron_variant ESAD-UK 13 35872146 35872146 single base substitution A C intron_variant ESAD-UK 13 35872148 35872148 single base substitution T G intron_variant ESAD-UK 13 35872572 35872572 single base substitution C A intron_variant ESAD-UK 13 35872578 35872578 single base substitution C T intron_variant ESAD-UK 13 35873024 35873024 single base substitution T G intron_variant ESAD-UK 13 35873129 35873129 insertion of <=200bp - A intron_variant ESAD-UK 13 35873906 35873906 single base substitution G A intron_variant ESAD-UK 13 35874295 35874295 single base substitution A C intron_variant ESAD-UK 13 35874411 35874411 single base substitution A G intron_variant ESAD-UK 13 35875462 35875462 single base substitution G T intron_variant ESAD-UK 13 35875901 35875901 single base substitution G T intron_variant ESAD-UK 13 35876536 35876536 single base substitution A G intron_variant ESAD-UK 13 35876785 35876785 deletion of <=200bp A - intron_variant ESAD-UK 13 35876788 35876788 single base substitution A C intron_variant ESAD-UK 13 35876860 35876860 single base substitution T G intron_variant ESAD-UK 13 35876870 35876870 single base substitution T A intron_variant ESAD-UK 13 35877571 35877571 single base substitution A T intron_variant ESAD-UK 13 35877903 35877903 single base substitution T C intron_variant ESAD-UK 13 35879326 35879326 single base substitution A C intron_variant ESAD-UK 13 35879407 35879407 single base substitution A C intron_variant ESAD-UK 13 35879746 35879746 single base substitution T G intron_variant ESAD-UK 13 35880762 35880762 single base substitution T C intron_variant ESAD-UK 13 35881023 35881023 single base substitution G C intron_variant ESAD-UK 13 35881307 35881307 single base substitution C T intron_variant ESAD-UK 13 35881388 35881388 single base substitution G C intron_variant ESAD-UK 13 35881549 35881549 single base substitution T G intron_variant ESAD-UK 13 35881863 35881863 single base substitution T A intron_variant ESAD-UK 13 35883106 35883106 deletion of <=200bp T - intron_variant ESAD-UK 13 35883678 35883678 single base substitution C G missense_variant S1948C 5843C>G ESAD-UK 13 35883678 35883678 single base substitution C G missense_variant S1951C 5852C>G ESAD-UK 13 35884061 35884061 single base substitution C T intron_variant ESAD-UK 13 35884669 35884669 single base substitution A G intron_variant ESAD-UK 13 35885343 35885343 single base substitution G T intron_variant ESAD-UK 13 35885456 35885456 insertion of <=200bp - AT intron_variant ESAD-UK 13 35885699 35885699 single base substitution T G intron_variant ESAD-UK 13 35885758 35885758 single base substitution A C intron_variant ESAD-UK 13 35885989 35885989 insertion of <=200bp - C intron_variant ESAD-UK 13 35886230 35886230 single base substitution T A intron_variant ESAD-UK 13 35886698 35886698 single base substitution G A intron_variant ESAD-UK 13 35886847 35886847 deletion of <=200bp T - intron_variant ESAD-UK 13 35886847 35886847 single base substitution T G intron_variant ESAD-UK 13 35887087 35887087 single base substitution A G intron_variant ESAD-UK 13 35887182 35887182 single base substitution A T intron_variant ESAD-UK 13 35887215 35887215 single base substitution A C intron_variant ESAD-UK 13 35887617 35887617 single base substitution A G intron_variant ESAD-UK 13 35887636 35887636 single base substitution A T intron_variant ESAD-UK 13 35887734 35887734 single base substitution G T intron_variant ESAD-UK 13 35887903 35887903 single base substitution T G intron_variant ESAD-UK 13 35887938 35887938 single base substitution G T intron_variant ESAD-UK 13 35887966 35887966 single base substitution T A intron_variant ESAD-UK 13 35887967 35887967 single base substitution A G intron_variant ESAD-UK 13 35888008 35888008 single base substitution A C intron_variant ESAD-UK 13 35891252 35891252 single base substitution T G intron_variant ESAD-UK 13 35891317 35891317 single base substitution T C intron_variant ESAD-UK 13 35891591 35891591 single base substitution G A intron_variant ESAD-UK 13 35891723 35891723 single base substitution G A intron_variant ESAD-UK 13 35892278 35892278 single base substitution A C intron_variant ESAD-UK 13 35892316 35892316 single base substitution G T intron_variant ESAD-UK 13 35892520 35892520 single base substitution G A intron_variant ESAD-UK 13 35892536 35892536 single base substitution A T intron_variant ESAD-UK 13 35892693 35892693 single base substitution A C intron_variant ESAD-UK 13 35892759 35892759 single base substitution A G intron_variant ESAD-UK 13 35893087 35893087 single base substitution C T intron_variant ESAD-UK 13 35893292 35893292 single base substitution G T intron_variant ESAD-UK 13 35893842 35893842 single base substitution A T intron_variant ESAD-UK 13 35893947 35893947 single base substitution T G intron_variant ESAD-UK 13 35894156 35894156 single base substitution C A intron_variant ESAD-UK 13 35895171 35895171 single base substitution G C intron_variant ESAD-UK 13 35895359 35895359 single base substitution G T intron_variant ESAD-UK 13 35895369 35895369 single base substitution C A intron_variant ESAD-UK 13 35895588 35895588 single base substitution T G intron_variant ESAD-UK 13 35896134 35896134 single base substitution G A intron_variant ESAD-UK 13 35896276 35896276 single base substitution G C intron_variant ESAD-UK 13 35897216 35897216 single base substitution A G intron_variant ESAD-UK 13 35897871 35897871 deletion of <=200bp A - intron_variant ESAD-UK 13 35898187 35898187 single base substitution C A intron_variant ESAD-UK 13 35898483 35898483 single base substitution A C intron_variant ESAD-UK 13 35900103 35900103 single base substitution A G intron_variant ESAD-UK 13 35900297 35900297 single base substitution G A intron_variant ESAD-UK 13 35900453 35900453 single base substitution C T intron_variant ESAD-UK 13 35900742 35900742 single base substitution T C intron_variant ESAD-UK 13 35901107 35901107 single base substitution A C intron_variant ESAD-UK 13 35901191 35901191 single base substitution A G intron_variant ESAD-UK 13 35901997 35901997 single base substitution T A intron_variant ESAD-UK 13 35902026 35902026 single base substitution G A intron_variant ESAD-UK 13 35902129 35902129 single base substitution C T intron_variant ESAD-UK 13 35902393 35902393 single base substitution A C intron_variant ESAD-UK 13 35902669 35902669 single base substitution C G intron_variant ESAD-UK 13 35902979 35902979 single base substitution A C intron_variant ESAD-UK 13 35903010 35903010 single base substitution G C intron_variant ESAD-UK 13 35903662 35903662 single base substitution A G intron_variant ESAD-UK 13 35904276 35904276 single base substitution G A intron_variant ESAD-UK 13 35904690 35904690 single base substitution A T intron_variant ESAD-UK 13 35904801 35904801 single base substitution C T intron_variant ESAD-UK 13 35904885 35904885 single base substitution G A intron_variant ESAD-UK 13 35905706 35905706 single base substitution A G intron_variant ESAD-UK 13 35905834 35905834 single base substitution C T intron_variant ESAD-UK 13 35906169 35906169 single base substitution T G intron_variant ESAD-UK 13 35906172 35906172 single base substitution T G intron_variant ESAD-UK 13 35906233 35906233 single base substitution G C intron_variant ESAD-UK 13 35907114 35907114 single base substitution A G intron_variant ESAD-UK 13 35908140 35908140 single base substitution C T intron_variant ESAD-UK 13 35908496 35908496 single base substitution T A intron_variant ESAD-UK 13 35908763 35908763 single base substitution A T intron_variant ESAD-UK 13 35909131 35909131 single base substitution G A intron_variant ESAD-UK 13 35909918 35909918 single base substitution A C intron_variant ESAD-UK 13 35909918 35909918 single base substitution A G intron_variant ESAD-UK 13 35909918 35909918 single base substitution A T intron_variant ESAD-UK 13 35910165 35910165 single base substitution G T intron_variant ESAD-UK 13 35912292 35912292 single base substitution G A intron_variant ESAD-UK 13 35912574 35912574 single base substitution G A intron_variant ESAD-UK 13 35912737 35912737 single base substitution A G intron_variant ESAD-UK 13 35912820 35912820 single base substitution C T intron_variant ESAD-UK 13 35913035 35913035 single base substitution A T intron_variant ESAD-UK 13 35913593 35913593 single base substitution A G intron_variant ESAD-UK 13 35913998 35913998 single base substitution C T intron_variant ESAD-UK 13 35914263 35914263 deletion of <=200bp T - intron_variant ESAD-UK 13 35915639 35915639 single base substitution A T intron_variant ESAD-UK 13 35916483 35916483 single base substitution G T intron_variant ESAD-UK 13 35916550 35916550 single base substitution A T intron_variant ESAD-UK 13 35916735 35916735 single base substitution A G intron_variant ESAD-UK 13 35916782 35916782 single base substitution A C intron_variant ESAD-UK 13 35916874 35916874 single base substitution A G intron_variant ESAD-UK 13 35917231 35917231 single base substitution C A intron_variant ESAD-UK 13 35917294 35917294 single base substitution A C intron_variant ESAD-UK 13 35917509 35917509 single base substitution A G intron_variant ESAD-UK 13 35917535 35917535 single base substitution G C intron_variant ESAD-UK 13 35917715 35917715 single base substitution T G intron_variant ESAD-UK 13 35918217 35918217 single base substitution C T intron_variant ESAD-UK 13 35918220 35918220 single base substitution G C intron_variant ESAD-UK 13 35918407 35918407 single base substitution A C intron_variant ESAD-UK 13 35918422 35918422 single base substitution C T intron_variant ESAD-UK 13 35918678 35918678 single base substitution A T intron_variant ESAD-UK 13 35919146 35919146 single base substitution G A intron_variant ESAD-UK 13 35919801 35919801 single base substitution G T intron_variant ESAD-UK 13 35919856 35919856 single base substitution G A intron_variant ESAD-UK 13 35919907 35919907 single base substitution A G intron_variant ESAD-UK 13 35920496 35920496 single base substitution T C intron_variant ESAD-UK 13 35921478 35921478 single base substitution C A intron_variant ESAD-UK 13 35922226 35922226 single base substitution A G intron_variant ESAD-UK 13 35922382 35922382 single base substitution A T intron_variant ESAD-UK 13 35922770 35922770 single base substitution C T intron_variant ESAD-UK 13 35923183 35923183 insertion of <=200bp - A intron_variant ESAD-UK 13 35923420 35923420 single base substitution C T intron_variant ESAD-UK 13 35923766 35923766 single base substitution A G intron_variant ESAD-UK 13 35924286 35924286 single base substitution C G intron_variant ESAD-UK 13 35924597 35924597 single base substitution G A intron_variant ESAD-UK 13 35925233 35925233 single base substitution A C intron_variant ESAD-UK 13 35925586 35925586 single base substitution G C intron_variant ESAD-UK 13 35926069 35926069 single base substitution A G intron_variant ESAD-UK 13 35926140 35926140 single base substitution A T intron_variant ESAD-UK 13 35926338 35926338 single base substitution G C missense_variant K2016N 6048G>C ESAD-UK 13 35926338 35926338 single base substitution G C missense_variant K2019N 6057G>C ESAD-UK 13 35926703 35926703 single base substitution A G intron_variant ESAD-UK 13 35926964 35926964 single base substitution T C intron_variant ESAD-UK 13 35927316 35927316 single base substitution T C intron_variant ESAD-UK 13 35927873 35927873 single base substitution C T intron_variant ESAD-UK 13 35928241 35928241 single base substitution T G intron_variant ESAD-UK 13 35929183 35929183 deletion of <=200bp T - intron_variant ESAD-UK 13 35929820 35929820 single base substitution T C intron_variant ESAD-UK 13 35930080 35930080 single base substitution T C intron_variant ESAD-UK 13 35930217 35930217 single base substitution T G intron_variant ESAD-UK 13 35931015 35931015 single base substitution C T intron_variant ESAD-UK 13 35931202 35931202 single base substitution A G intron_variant ESAD-UK 13 35931705 35931705 single base substitution T C intron_variant ESAD-UK 13 35932294 35932294 single base substitution G A intron_variant ESAD-UK 13 35932497 35932497 single base substitution C A intron_variant ESAD-UK 13 35932636 35932636 single base substitution T C intron_variant ESAD-UK 13 35932738 35932738 single base substitution C T intron_variant ESAD-UK 13 35932756 35932756 single base substitution G C intron_variant ESAD-UK 13 35932805 35932805 single base substitution A G intron_variant ESAD-UK 13 35933017 35933017 single base substitution A G intron_variant ESAD-UK 13 35933944 35933944 single base substitution G C intron_variant ESAD-UK 13 35934024 35934024 single base substitution C G intron_variant ESAD-UK 13 35934731 35934731 single base substitution C A intron_variant ESAD-UK 13 35934740 35934740 single base substitution A C intron_variant ESAD-UK 13 35934766 35934766 single base substitution A C intron_variant ESAD-UK 13 35934822 35934822 single base substitution A G intron_variant ESAD-UK 13 35935045 35935045 single base substitution A G intron_variant ESAD-UK 13 35935081 35935081 single base substitution A T intron_variant ESAD-UK 13 35935722 35935722 single base substitution T G intron_variant ESAD-UK 13 35935789 35935789 single base substitution A G intron_variant ESAD-UK 13 35936162 35936162 single base substitution T C intron_variant ESAD-UK 13 35937150 35937150 single base substitution T G intron_variant ESAD-UK 13 35937455 35937455 single base substitution C A intron_variant ESAD-UK 13 35937609 35937609 single base substitution T G intron_variant ESAD-UK 13 35937863 35937863 single base substitution C T intron_variant ESAD-UK 13 35937957 35937957 single base substitution A C intron_variant ESAD-UK 13 35938062 35938062 single base substitution C A intron_variant ESAD-UK 13 35938155 35938155 single base substitution G A intron_variant ESAD-UK 13 35939449 35939449 single base substitution C T intron_variant ESAD-UK 13 35940513 35940513 single base substitution T C intron_variant ESAD-UK 13 35941254 35941254 insertion of <=200bp - A intron_variant ESAD-UK 13 35941399 35941399 single base substitution A C intron_variant ESAD-UK 13 35941922 35941922 single base substitution C T intron_variant ESAD-UK 13 35942029 35942029 single base substitution A C intron_variant ESAD-UK 13 35942080 35942080 single base substitution T C intron_variant ESAD-UK 13 35942125 35942125 single base substitution T G intron_variant ESAD-UK 13 35943254 35943254 single base substitution G A intron_variant ESAD-UK 13 35943436 35943436 single base substitution T C intron_variant ESAD-UK 13 35943849 35943849 single base substitution A C intron_variant ESAD-UK 13 35944073 35944073 single base substitution T C intron_variant ESAD-UK 13 35945219 35945219 single base substitution T G intron_variant ESAD-UK 13 35945577 35945577 single base substitution T C intron_variant ESAD-UK 13 35946148 35946148 single base substitution A C intron_variant ESAD-UK 13 35946159 35946159 single base substitution C G intron_variant ESAD-UK 13 35946219 35946219 single base substitution T G intron_variant ESAD-UK 13 35946220 35946220 single base substitution T G intron_variant ESAD-UK 13 35946573 35946573 single base substitution T C intron_variant ESAD-UK 13 35946774 35946774 single base substitution A C intron_variant ESAD-UK 13 35947101 35947101 single base substitution T G intron_variant ESAD-UK 13 35947210 35947210 single base substitution G A intron_variant ESAD-UK 13 35947282 35947282 single base substitution C A intron_variant ESAD-UK 13 35947450 35947450 single base substitution T G intron_variant ESAD-UK 13 35947916 35947916 single base substitution T A intron_variant ESAD-UK 13 35948044 35948044 single base substitution T A intron_variant ESAD-UK 13 35948050 35948050 single base substitution A G intron_variant ESAD-UK 13 35948087 35948087 single base substitution A C intron_variant ESAD-UK 13 35948311 35948311 single base substitution T C intron_variant ESAD-UK 13 35948345 35948345 single base substitution T C intron_variant ESAD-UK 13 35948345 35948345 single base substitution T G intron_variant ESAD-UK 13 35948384 35948384 single base substitution C T intron_variant ESAD-UK 13 35948553 35948553 single base substitution A C intron_variant ESAD-UK 13 35948680 35948680 single base substitution A C intron_variant ESAD-UK 13 35948689 35948689 single base substitution G A intron_variant ESAD-UK 13 35949453 35949453 single base substitution G A intron_variant ESAD-UK 13 35949737 35949737 single base substitution T G intron_variant ESAD-UK 13 35949805 35949805 single base substitution C A intron_variant ESAD-UK 13 35951038 35951038 single base substitution T A intron_variant ESAD-UK 13 35951038 35951038 single base substitution T C intron_variant ESAD-UK 13 35951038 35951038 single base substitution T G intron_variant ESAD-UK 13 35951412 35951412 single base substitution G A intron_variant ESAD-UK 13 35951466 35951466 single base substitution C T intron_variant ESAD-UK 13 35951692 35951692 single base substitution G T intron_variant ESAD-UK 13 35951969 35951969 single base substitution C T intron_variant ESAD-UK 13 35952140 35952140 single base substitution T G intron_variant ESAD-UK 13 35952260 35952260 single base substitution G A intron_variant ESAD-UK 13 35952806 35952806 single base substitution C T intron_variant ESAD-UK 13 35953749 35953749 single base substitution C G intron_variant ESAD-UK 13 35954043 35954043 single base substitution A G intron_variant ESAD-UK 13 35954311 35954311 single base substitution G A intron_variant ESAD-UK 13 35954505 35954505 single base substitution T C intron_variant ESAD-UK 13 35954870 35954870 single base substitution T C intron_variant ESAD-UK 13 35955065 35955065 single base substitution T G intron_variant ESAD-UK 13 35955267 35955267 single base substitution T G intron_variant ESAD-UK 13 35955283 35955283 single base substitution T G intron_variant ESAD-UK 13 35955736 35955736 single base substitution G A intron_variant ESAD-UK 13 35956469 35956469 single base substitution T C intron_variant ESAD-UK 13 35956619 35956619 single base substitution T G intron_variant ESAD-UK 13 35956936 35956936 single base substitution A T intron_variant ESAD-UK 13 35958437 35958437 single base substitution A T intron_variant ESAD-UK 13 35959200 35959200 single base substitution A C intron_variant ESAD-UK 13 35959360 35959360 insertion of <=200bp - T intron_variant ESAD-UK 13 35959731 35959731 single base substitution T G intron_variant ESAD-UK 13 35959857 35959857 single base substitution A T intron_variant ESAD-UK 13 35961147 35961147 single base substitution G C intron_variant ESAD-UK 13 35961780 35961780 single base substitution A G intron_variant ESAD-UK 13 35961970 35961970 single base substitution G C intron_variant ESAD-UK 13 35962455 35962455 single base substitution T G intron_variant ESAD-UK 13 35962683 35962683 single base substitution G T intron_variant ESAD-UK 13 35962745 35962745 single base substitution T C intron_variant ESAD-UK 13 35963009 35963009 single base substitution C T intron_variant ESAD-UK 13 35963263 35963263 single base substitution A G intron_variant ESAD-UK 13 35963596 35963599 deletion of <=200bp TCTC - intron_variant ESAD-UK 13 35963929 35963929 single base substitution A G intron_variant ESAD-UK 13 35963929 35963929 single base substitution A T intron_variant ESAD-UK 13 35964435 35964435 single base substitution A T intron_variant ESAD-UK 13 35964460 35964460 single base substitution T C intron_variant ESAD-UK 13 35964707 35964707 single base substitution A C intron_variant ESAD-UK 13 35964770 35964770 single base substitution A C intron_variant ESAD-UK 13 35965055 35965055 single base substitution A C intron_variant ESAD-UK 13 35965086 35965086 single base substitution A G intron_variant ESAD-UK 13 35965120 35965120 single base substitution A C intron_variant ESAD-UK 13 35965516 35965516 single base substitution T C intron_variant ESAD-UK 13 35966275 35966275 single base substitution G T intron_variant ESAD-UK 13 35966319 35966319 single base substitution A T intron_variant ESAD-UK 13 35966485 35966485 single base substitution C A intron_variant ESAD-UK 13 35966622 35966622 single base substitution T G intron_variant ESAD-UK 13 35966927 35966927 single base substitution T C intron_variant ESAD-UK 13 35967080 35967080 single base substitution T G intron_variant ESAD-UK 13 35967240 35967240 single base substitution T C intron_variant ESAD-UK 13 35967251 35967251 single base substitution T G intron_variant ESAD-UK 13 35968561 35968561 single base substitution T G intron_variant ESAD-UK 13 35969958 35969958 single base substitution A C intron_variant ESAD-UK 13 35970044 35970044 single base substitution G T intron_variant ESAD-UK 13 35970560 35970560 insertion of <=200bp - T intron_variant ESAD-UK 13 35971044 35971044 single base substitution T G intron_variant ESAD-UK 13 35971082 35971082 single base substitution A C intron_variant ESAD-UK 13 35971116 35971116 single base substitution T A intron_variant ESAD-UK 13 35971191 35971191 single base substitution C T intron_variant ESAD-UK 13 35971502 35971502 single base substitution C T intron_variant ESAD-UK 13 35972063 35972063 single base substitution A C intron_variant ESAD-UK 13 35972271 35972271 single base substitution A C intron_variant ESAD-UK 13 35972502 35972502 single base substitution T G intron_variant ESAD-UK 13 35972605 35972605 single base substitution T C intron_variant ESAD-UK 13 35973261 35973261 single base substitution T A intron_variant ESAD-UK 13 35973590 35973590 single base substitution C A intron_variant ESAD-UK 13 35974675 35974675 single base substitution T C intron_variant ESAD-UK 13 35974771 35974771 single base substitution A C intron_variant ESAD-UK 13 35974941 35974941 single base substitution T G intron_variant ESAD-UK 13 35974975 35974975 single base substitution T A intron_variant ESAD-UK 13 35974975 35974975 single base substitution T G intron_variant ESAD-UK 13 35975006 35975006 single base substitution T G intron_variant ESAD-UK 13 35975967 35975967 single base substitution T A intron_variant ESAD-UK 13 35976239 35976239 single base substitution A C intron_variant ESAD-UK 13 35976819 35976819 single base substitution A C intron_variant ESAD-UK 13 35976967 35976967 single base substitution G A intron_variant ESAD-UK 13 35977429 35977429 single base substitution C A intron_variant ESAD-UK 13 35977566 35977566 single base substitution G T intron_variant ESAD-UK 13 35978904 35978904 deletion of <=200bp A - intron_variant ESAD-UK 13 35979531 35979531 single base substitution T G intron_variant ESAD-UK 13 35979607 35979607 single base substitution C T intron_variant ESAD-UK 13 35980067 35980067 single base substitution A C intron_variant ESAD-UK 13 35980334 35980334 single base substitution T C intron_variant ESAD-UK 13 35980469 35980469 single base substitution G T intron_variant ESAD-UK 13 35980544 35980544 deletion of <=200bp C - intron_variant ESAD-UK 13 35980677 35980677 single base substitution T C intron_variant ESAD-UK 13 35981093 35981093 single base substitution C A intron_variant ESAD-UK 13 35981094 35981094 single base substitution T C intron_variant ESAD-UK 13 35981164 35981164 single base substitution T G intron_variant ESAD-UK 13 35981591 35981591 single base substitution A G intron_variant ESAD-UK 13 35981601 35981601 single base substitution A C intron_variant ESAD-UK 13 35982109 35982109 single base substitution A C intron_variant ESAD-UK 13 35982797 35982797 single base substitution A G intron_variant ESAD-UK 13 35982903 35982903 single base substitution T G intron_variant ESAD-UK 13 35983637 35983637 single base substitution A C intron_variant ESAD-UK 13 35983637 35983637 single base substitution A G intron_variant ESAD-UK 13 35983770 35983770 single base substitution A C intron_variant ESAD-UK 13 35983875 35983875 single base substitution A C intron_variant ESAD-UK 13 35983926 35983926 single base substitution G T intron_variant ESAD-UK 13 35985064 35985064 single base substitution T G intron_variant ESAD-UK 13 35985074 35985074 single base substitution T G intron_variant ESAD-UK 13 35985243 35985243 single base substitution T G intron_variant ESAD-UK 13 35985414 35985414 single base substitution C T intron_variant ESAD-UK 13 35986073 35986073 single base substitution A C intron_variant ESAD-UK 13 35986108 35986108 single base substitution G T intron_variant ESAD-UK 13 35986618 35986618 single base substitution A C intron_variant ESAD-UK 13 35987456 35987456 single base substitution T C intron_variant ESAD-UK 13 35987757 35987757 single base substitution T G intron_variant ESAD-UK 13 35987776 35987776 single base substitution A C intron_variant ESAD-UK 13 35987776 35987776 single base substitution A G intron_variant ESAD-UK 13 35987778 35987778 single base substitution T G intron_variant ESAD-UK 13 35987780 35987780 single base substitution C A intron_variant ESAD-UK 13 35987945 35987945 single base substitution C T intron_variant ESAD-UK 13 35987989 35987989 single base substitution A C intron_variant ESAD-UK 13 35988213 35988213 single base substitution T G intron_variant ESAD-UK 13 35988465 35988465 single base substitution T C intron_variant ESAD-UK 13 35988472 35988472 single base substitution C T intron_variant ESAD-UK 13 35988496 35988496 single base substitution T G intron_variant ESAD-UK 13 35990879 35990879 single base substitution T G intron_variant ESAD-UK 13 35991081 35991081 single base substitution T G intron_variant ESAD-UK 13 35991232 35991232 deletion of <=200bp T - intron_variant ESAD-UK 13 35992060 35992060 single base substitution T G intron_variant ESAD-UK 13 35992064 35992064 single base substitution G C intron_variant ESAD-UK 13 35992066 35992066 single base substitution T C intron_variant ESAD-UK 13 35992091 35992091 single base substitution T G intron_variant ESAD-UK 13 35992263 35992263 single base substitution A G intron_variant ESAD-UK 13 35993537 35993537 single base substitution G A intron_variant ESAD-UK 13 35993588 35993588 single base substitution C A intron_variant ESAD-UK 13 35993757 35993757 single base substitution C A intron_variant ESAD-UK 13 35993873 35993873 single base substitution A G intron_variant ESAD-UK 13 35993873 35993873 single base substitution A T intron_variant ESAD-UK 13 35993903 35993903 single base substitution A C intron_variant ESAD-UK 13 35993988 35993988 single base substitution T C intron_variant ESAD-UK 13 35994394 35994394 single base substitution T G intron_variant ESAD-UK 13 35994616 35994616 deletion of <=200bp T - intron_variant ESAD-UK 13 35994816 35994816 single base substitution C A intron_variant ESAD-UK 13 35994896 35994896 single base substitution T G intron_variant ESAD-UK 13 35994901 35994901 single base substitution A C intron_variant ESAD-UK 13 35994909 35994909 single base substitution A C intron_variant ESAD-UK 13 35995140 35995140 single base substitution T C intron_variant ESAD-UK 13 35995305 35995305 single base substitution T G intron_variant ESAD-UK 13 35996127 35996127 single base substitution T G intron_variant ESAD-UK 13 35998311 35998311 single base substitution T G intron_variant ESAD-UK 13 35998526 35998526 single base substitution T G intron_variant ESAD-UK 13 36001027 36001027 single base substitution T A intron_variant ESAD-UK 13 36002040 36002040 single base substitution G A intron_variant ESAD-UK 13 36002179 36002179 single base substitution T G intron_variant ESAD-UK 13 36002387 36002387 single base substitution C T intron_variant ESAD-UK 13 36002510 36002510 single base substitution G A intron_variant ESAD-UK 13 36002971 36002971 single base substitution A C intron_variant ESAD-UK 13 36004000 36004000 single base substitution T C intron_variant ESAD-UK 13 36004078 36004078 single base substitution T A intron_variant ESAD-UK 13 36004151 36004151 single base substitution T G intron_variant ESAD-UK 13 36004843 36004843 single base substitution T G intron_variant ESAD-UK 13 36004855 36004855 single base substitution T G intron_variant ESAD-UK 13 36004863 36004863 single base substitution A C intron_variant ESAD-UK 13 36004863 36004863 single base substitution A G intron_variant ESAD-UK 13 36005061 36005061 single base substitution A C intron_variant ESAD-UK 13 36005518 36005518 single base substitution T G intron_variant ESAD-UK 13 36005744 36005744 single base substitution A G intron_variant ESAD-UK 13 36005744 36005744 single base substitution A T intron_variant ESAD-UK 13 36005951 36005951 single base substitution T G intron_variant ESAD-UK 13 36006018 36006018 single base substitution C T intron_variant ESAD-UK 13 36006148 36006148 single base substitution T A intron_variant ESAD-UK 13 36006385 36006385 deletion of <=200bp T - intron_variant ESAD-UK 13 36006937 36006937 single base substitution T C intron_variant ESAD-UK 13 36007035 36007035 single base substitution T A intron_variant ESAD-UK 13 36007036 36007036 single base substitution A T intron_variant ESAD-UK 13 36007093 36007093 single base substitution C T intron_variant ESAD-UK 13 36007193 36007193 single base substitution C T intron_variant ESAD-UK 13 36007280 36007280 single base substitution A C intron_variant ESAD-UK 13 36007363 36007363 single base substitution G T intron_variant ESAD-UK 13 36007436 36007436 single base substitution G T intron_variant ESAD-UK 13 36007565 36007565 single base substitution A G intron_variant ESAD-UK 13 36007675 36007675 single base substitution T C intron_variant ESAD-UK 13 36008052 36008052 single base substitution T C intron_variant ESAD-UK 13 36008226 36008226 insertion of <=200bp - T intron_variant ESAD-UK 13 36008524 36008524 single base substitution A C intron_variant ESAD-UK 13 36008772 36008772 single base substitution C A intron_variant ESAD-UK 13 36009370 36009370 single base substitution G A intron_variant ESAD-UK 13 36009689 36009689 deletion of <=200bp G - intron_variant ESAD-UK 13 36009903 36009903 deletion of <=200bp C - intron_variant ESAD-UK 13 36010311 36010311 single base substitution C A intron_variant ESAD-UK 13 36010698 36010698 single base substitution T G intron_variant ESAD-UK 13 36011025 36011025 single base substitution T G intron_variant ESAD-UK 13 36011469 36011469 single base substitution G A intron_variant ESAD-UK 13 36011811 36011811 single base substitution A G intron_variant ESAD-UK 13 36011812 36011812 single base substitution A C intron_variant ESAD-UK 13 36011889 36011889 single base substitution C T intron_variant ESAD-UK 13 36012132 36012132 single base substitution G C intron_variant ESAD-UK 13 36012189 36012189 single base substitution A G intron_variant ESAD-UK 13 36012270 36012270 single base substitution C A intron_variant ESAD-UK 13 36013032 36013032 single base substitution A C intron_variant ESAD-UK 13 36013086 36013086 single base substitution T G intron_variant ESAD-UK 13 36013450 36013450 single base substitution G T intron_variant ESAD-UK 13 36014143 36014143 single base substitution A G intron_variant ESAD-UK 13 36014642 36014642 single base substitution G T intron_variant ESAD-UK 13 36014939 36014939 single base substitution C T intron_variant ESAD-UK 13 36015200 36015200 single base substitution A G intron_variant ESAD-UK 13 36015808 36015808 single base substitution G A intron_variant ESAD-UK 13 36017408 36017408 single base substitution A C intron_variant ESAD-UK 13 36017475 36017475 single base substitution A C intron_variant ESAD-UK 13 36017509 36017509 single base substitution A C intron_variant ESAD-UK 13 36017580 36017580 single base substitution G C intron_variant ESAD-UK 13 36018465 36018465 single base substitution A C intron_variant ESAD-UK 13 36018502 36018502 single base substitution A T intron_variant ESAD-UK 13 36018536 36018536 single base substitution T A intron_variant ESAD-UK 13 36018620 36018620 single base substitution G T intron_variant ESAD-UK 13 36018626 36018626 single base substitution T G intron_variant ESAD-UK 13 36018629 36018629 single base substitution G A intron_variant ESAD-UK 13 36018672 36018672 single base substitution G A intron_variant ESAD-UK 13 36018800 36018800 single base substitution G T intron_variant ESAD-UK 13 36019350 36019350 single base substitution G C intron_variant ESAD-UK 13 36019379 36019379 single base substitution A T intron_variant ESAD-UK 13 36019626 36019626 single base substitution T G intron_variant ESAD-UK 13 36021013 36021013 single base substitution C T intron_variant ESAD-UK 13 36021183 36021183 single base substitution T A intron_variant ESAD-UK 13 36021663 36021663 single base substitution G A intron_variant ESAD-UK 13 36022532 36022532 single base substitution A C intron_variant ESAD-UK 13 36023274 36023274 single base substitution G A intron_variant ESAD-UK 13 36025165 36025165 single base substitution A C intron_variant ESAD-UK 13 36025685 36025685 single base substitution C T intron_variant ESAD-UK 13 36026307 36026307 single base substitution T C missense_variant L2125P 6374T>C ESAD-UK 13 36026307 36026307 single base substitution T C missense_variant L2128P 6383T>C ESAD-UK 13 36026370 36026370 single base substitution C T missense_variant A2146V 6437C>T ESAD-UK 13 36026370 36026370 single base substitution C T missense_variant A2149V 6446C>T ESAD-UK 13 36026724 36026724 single base substitution T A intron_variant ESAD-UK 13 36026819 36026819 single base substitution C T intron_variant ESAD-UK 13 36026929 36026929 single base substitution A C intron_variant ESAD-UK 13 36027407 36027407 single base substitution A G intron_variant ESAD-UK 13 36027542 36027542 single base substitution T C intron_variant ESAD-UK 13 36028591 36028591 single base substitution T A intron_variant ESAD-UK 13 36028735 36028735 single base substitution C A intron_variant ESAD-UK 13 36029208 36029208 single base substitution G T intron_variant ESAD-UK 13 36029560 36029560 single base substitution A T intron_variant ESAD-UK 13 36029725 36029725 single base substitution C T intron_variant ESAD-UK 13 36030080 36030080 single base substitution A T intron_variant ESAD-UK 13 36030272 36030272 single base substitution T C intron_variant ESAD-UK 13 36030278 36030278 single base substitution A C intron_variant ESAD-UK 13 36031542 36031542 single base substitution G T intron_variant ESAD-UK 13 36031697 36031697 single base substitution T A intron_variant ESAD-UK 13 36031703 36031703 single base substitution T G intron_variant ESAD-UK 13 36032225 36032225 single base substitution T G intron_variant ESAD-UK 13 36032350 36032350 single base substitution C A intron_variant ESAD-UK 13 36032770 36032770 single base substitution T C intron_variant ESAD-UK 13 36033299 36033299 single base substitution T C intron_variant ESAD-UK 13 36033457 36033457 single base substitution A C intron_variant ESAD-UK 13 36034133 36034133 single base substitution G A intron_variant ESAD-UK 13 36034140 36034140 single base substitution A T intron_variant ESAD-UK 13 36034145 36034145 single base substitution C T intron_variant ESAD-UK 13 36034269 36034269 single base substitution T A intron_variant ESAD-UK 13 36034350 36034350 single base substitution A C intron_variant ESAD-UK 13 36034624 36034624 single base substitution A G intron_variant ESAD-UK 13 36034934 36034934 single base substitution A C intron_variant ESAD-UK 13 36034997 36034997 single base substitution A C intron_variant ESAD-UK 13 36035006 36035006 single base substitution A C intron_variant ESAD-UK 13 36035118 36035118 single base substitution C T intron_variant ESAD-UK 13 36035283 36035283 single base substitution A G intron_variant ESAD-UK 13 36036044 36036044 deletion of <=200bp G - intron_variant ESAD-UK 13 36036354 36036354 single base substitution A G intron_variant ESAD-UK 13 36036582 36036582 single base substitution T G intron_variant ESAD-UK 13 36036763 36036763 single base substitution T G intron_variant ESAD-UK 13 36036809 36036809 single base substitution T A intron_variant ESAD-UK 13 36037057 36037057 single base substitution C A intron_variant ESAD-UK 13 36037083 36037083 single base substitution A C intron_variant ESAD-UK 13 36038414 36038414 single base substitution T G intron_variant ESAD-UK 13 36038709 36038709 single base substitution A G intron_variant ESAD-UK 13 36039281 36039281 single base substitution T A intron_variant ESAD-UK 13 36039504 36039504 single base substitution T G intron_variant ESAD-UK 13 36040331 36040331 single base substitution A C intron_variant ESAD-UK 13 36040529 36040529 single base substitution A C intron_variant ESAD-UK 13 36040636 36040636 deletion of <=200bp A - intron_variant ESAD-UK 13 36040797 36040797 single base substitution G T intron_variant ESAD-UK 13 36041168 36041168 single base substitution T G intron_variant ESAD-UK 13 36041284 36041284 single base substitution T G intron_variant ESAD-UK 13 36041309 36041309 single base substitution C T intron_variant ESAD-UK 13 36041353 36041353 single base substitution G T intron_variant ESAD-UK 13 36042642 36042642 deletion of <=200bp G - intron_variant ESAD-UK 13 36042948 36042948 single base substitution T C intron_variant ESAD-UK 13 36043174 36043174 single base substitution T A intron_variant ESAD-UK 13 36043332 36043332 single base substitution G C intron_variant ESAD-UK 13 36043555 36043555 single base substitution G A intron_variant ESAD-UK 13 36044568 36044568 single base substitution A C intron_variant ESAD-UK 13 36044568 36044568 single base substitution A T intron_variant ESAD-UK 13 36044856 36044856 single base substitution G A intron_variant ESAD-UK 13 36044906 36044906 single base substitution G A intron_variant ESAD-UK 13 36044915 36044915 single base substitution G A intron_variant ESAD-UK 13 36045214 36045214 single base substitution C T intron_variant ESAD-UK 13 36045441 36045441 single base substitution C T intron_variant ESAD-UK 13 36045907 36045907 single base substitution T C intron_variant ESAD-UK 13 36045907 36045907 single base substitution T C upstream_gene_variant ESAD-UK 13 36046361 36046361 single base substitution G C intron_variant ESAD-UK 13 36046361 36046361 single base substitution G C upstream_gene_variant ESAD-UK 13 36046392 36046392 single base substitution T G intron_variant ESAD-UK 13 36046392 36046392 single base substitution T G upstream_gene_variant ESAD-UK 13 36046408 36046408 single base substitution T C intron_variant ESAD-UK 13 36046408 36046408 single base substitution T C upstream_gene_variant ESAD-UK 13 36046413 36046413 single base substitution C T intron_variant ESAD-UK 13 36046413 36046413 single base substitution C T upstream_gene_variant ESAD-UK 13 36046520 36046520 single base substitution T C intron_variant ESAD-UK 13 36046520 36046520 single base substitution T C upstream_gene_variant ESAD-UK 13 36046660 36046660 single base substitution A C missense_variant K2188T 6563A>C ESAD-UK 13 36046660 36046660 single base substitution A C missense_variant K2191T 6572A>C ESAD-UK 13 36046660 36046660 single base substitution A C upstream_gene_variant ESAD-UK 13 36046670 36046670 single base substitution G A synonymous_variant T2191T 6573G>A ESAD-UK 13 36046670 36046670 single base substitution G A synonymous_variant T2194T 6582G>A ESAD-UK 13 36046670 36046670 single base substitution G A upstream_gene_variant ESAD-UK 13 36046990 36046990 single base substitution T A intron_variant ESAD-UK 13 36046990 36046990 single base substitution T A upstream_gene_variant ESAD-UK 13 36047850 36047850 single base substitution A G intron_variant ESAD-UK 13 36047850 36047850 single base substitution A G upstream_gene_variant ESAD-UK 13 36047972 36047972 single base substitution G A intron_variant ESAD-UK 13 36047972 36047972 single base substitution G A upstream_gene_variant ESAD-UK 13 36048056 36048056 deletion of <=200bp T - intron_variant ESAD-UK 13 36048056 36048056 deletion of <=200bp T - upstream_gene_variant ESAD-UK 13 36048873 36048873 single base substitution T G intron_variant ESAD-UK 13 36048873 36048873 single base substitution T G upstream_gene_variant ESAD-UK 13 36049134 36049134 single base substitution A C intron_variant ESAD-UK 13 36049134 36049134 single base substitution A C upstream_gene_variant ESAD-UK 13 36049356 36049356 single base substitution A G intron_variant ESAD-UK 13 36049356 36049356 single base substitution A G upstream_gene_variant ESAD-UK 13 36049491 36049491 single base substitution A C intron_variant ESAD-UK 13 36049491 36049491 single base substitution A C upstream_gene_variant ESAD-UK 13 36049597 36049597 single base substitution T G intron_variant ESAD-UK 13 36049597 36049597 single base substitution T G upstream_gene_variant ESAD-UK 13 36050832 36050832 single base substitution C G intron_variant ESAD-UK 13 36050832 36050832 single base substitution C G upstream_gene_variant ESAD-UK 13 36050881 36050881 single base substitution C T intron_variant ESAD-UK 13 36050881 36050881 single base substitution C T upstream_gene_variant ESAD-UK 13 36050921 36050921 single base substitution G A 5_prime_UTR_variant ESAD-UK 13 36050921 36050921 single base substitution G A intron_variant ESAD-UK 13 36051073 36051073 single base substitution C T intron_variant ESAD-UK 13 36051265 36051265 single base substitution T A intron_variant ESAD-UK 13 36051816 36051816 single base substitution T G intron_variant ESAD-UK 13 36051936 36051936 single base substitution G T intron_variant ESAD-UK 13 36052011 36052011 single base substitution A C intron_variant ESAD-UK 13 36052088 36052088 single base substitution T A intron_variant ESAD-UK 13 36052450 36052450 single base substitution A C intron_variant ESAD-UK 13 36052501 36052501 single base substitution G A intron_variant ESAD-UK 13 36053054 36053054 single base substitution A G intron_variant ESAD-UK 13 36053434 36053434 single base substitution G A intron_variant ESAD-UK 13 36053557 36053557 single base substitution C T intron_variant ESAD-UK 13 36054039 36054039 single base substitution G C intron_variant ESAD-UK 13 36054637 36054637 single base substitution G A intron_variant ESAD-UK 13 36055035 36055035 insertion of <=200bp - A intron_variant ESAD-UK 13 36055599 36055599 single base substitution A T intron_variant ESAD-UK 13 36056251 36056251 single base substitution T A intron_variant ESAD-UK 13 36056353 36056353 single base substitution A G intron_variant ESAD-UK 13 36058507 36058507 single base substitution T C intron_variant ESAD-UK 13 36058508 36058508 single base substitution G T intron_variant ESAD-UK 13 36059700 36059700 single base substitution A C intron_variant ESAD-UK 13 36060134 36060134 single base substitution G C intron_variant ESAD-UK 13 36060139 36060139 single base substitution A G intron_variant ESAD-UK 13 36060262 36060262 single base substitution G A intron_variant ESAD-UK 13 36061562 36061562 insertion of <=200bp - A intron_variant ESAD-UK 13 36062131 36062131 single base substitution C T intron_variant ESAD-UK 13 36062153 36062153 single base substitution A C intron_variant ESAD-UK 13 36062438 36062438 single base substitution C A intron_variant ESAD-UK 13 36063461 36063461 single base substitution C T intron_variant ESAD-UK 13 36063590 36063590 single base substitution C A intron_variant ESAD-UK 13 36063709 36063709 single base substitution T G intron_variant ESAD-UK 13 36064081 36064081 single base substitution T G intron_variant ESAD-UK 13 36064920 36064920 single base substitution T G intron_variant ESAD-UK 13 36065271 36065271 single base substitution A T intron_variant ESAD-UK 13 36065274 36065274 single base substitution T C intron_variant ESAD-UK 13 36065355 36065355 single base substitution T G intron_variant ESAD-UK 13 36065425 36065425 single base substitution T G intron_variant ESAD-UK 13 36065637 36065637 single base substitution C T intron_variant ESAD-UK 13 36065844 36065844 single base substitution G C intron_variant ESAD-UK 13 36065845 36065845 single base substitution C T intron_variant ESAD-UK 13 36066626 36066626 single base substitution A G intron_variant ESAD-UK 13 36066638 36066638 single base substitution A C intron_variant ESAD-UK 13 36067105 36067105 single base substitution A T intron_variant ESAD-UK 13 36067263 36067263 single base substitution G T intron_variant ESAD-UK 13 36067310 36067310 single base substitution A C intron_variant ESAD-UK 13 36067681 36067681 single base substitution T A intron_variant ESAD-UK 13 36068946 36068946 single base substitution A T intron_variant ESAD-UK 13 36068990 36068990 single base substitution T A intron_variant ESAD-UK 13 36069170 36069170 single base substitution A G intron_variant ESAD-UK 13 36069267 36069267 single base substitution A G intron_variant ESAD-UK 13 36069382 36069382 single base substitution C T intron_variant ESAD-UK 13 36069434 36069434 single base substitution A C intron_variant ESAD-UK 13 36069767 36069767 single base substitution A C intron_variant ESAD-UK 13 36070388 36070388 single base substitution T G intron_variant ESAD-UK 13 36070921 36070921 single base substitution T G intron_variant ESAD-UK 13 36071107 36071107 single base substitution C G intron_variant ESAD-UK 13 36071172 36071172 single base substitution G A intron_variant ESAD-UK 13 36071541 36071541 single base substitution A G intron_variant ESAD-UK 13 36072080 36072080 single base substitution T G intron_variant ESAD-UK 13 36072102 36072102 single base substitution T A intron_variant ESAD-UK 13 36072444 36072444 single base substitution C G intron_variant ESAD-UK 13 36072721 36072721 single base substitution A T intron_variant ESAD-UK 13 36073072 36073072 single base substitution T G intron_variant ESAD-UK 13 36073325 36073325 single base substitution A G intron_variant ESAD-UK 13 36073834 36073834 single base substitution T A intron_variant ESAD-UK 13 36074926 36074926 single base substitution G A intron_variant ESAD-UK 13 36075256 36075256 single base substitution T G intron_variant ESAD-UK 13 36075820 36075820 single base substitution T A intron_variant ESAD-UK 13 36076050 36076050 single base substitution A C intron_variant ESAD-UK 13 36076086 36076086 single base substitution G A intron_variant ESAD-UK 13 36077040 36077040 single base substitution T G intron_variant ESAD-UK 13 36077323 36077323 single base substitution T C intron_variant ESAD-UK 13 36077760 36077760 single base substitution T G intron_variant ESAD-UK 13 36078063 36078063 single base substitution T G intron_variant ESAD-UK 13 36078400 36078400 single base substitution G A intron_variant ESAD-UK 13 36078648 36078648 single base substitution T C intron_variant ESAD-UK 13 36078863 36078863 single base substitution G T intron_variant ESAD-UK 13 36079118 36079118 single base substitution G A intron_variant ESAD-UK 13 36079147 36079147 single base substitution T G intron_variant ESAD-UK 13 36079713 36079713 single base substitution G T intron_variant ESAD-UK 13 36079923 36079923 single base substitution C A intron_variant ESAD-UK 13 36080110 36080110 single base substitution G A intron_variant ESAD-UK 13 36080120 36080120 single base substitution T G intron_variant ESAD-UK 13 36080267 36080267 single base substitution T G intron_variant ESAD-UK 13 36080546 36080546 single base substitution G A intron_variant ESAD-UK 13 36080575 36080575 single base substitution T C intron_variant ESAD-UK 13 36081031 36081031 single base substitution T C intron_variant ESAD-UK 13 36081031 36081031 single base substitution T G intron_variant ESAD-UK 13 36081098 36081098 single base substitution T C intron_variant ESAD-UK 13 36081483 36081483 single base substitution T G intron_variant ESAD-UK 13 36081712 36081712 single base substitution A G intron_variant ESAD-UK 13 36081721 36081721 single base substitution C T intron_variant ESAD-UK 13 36081969 36081969 single base substitution G C intron_variant ESAD-UK 13 36082585 36082585 single base substitution A C intron_variant ESAD-UK 13 36082696 36082696 single base substitution A C intron_variant ESAD-UK 13 36083224 36083224 single base substitution C T intron_variant ESAD-UK 13 36083324 36083324 single base substitution C T intron_variant ESAD-UK 13 36083384 36083384 single base substitution T G intron_variant ESAD-UK 13 36083428 36083428 single base substitution T G intron_variant ESAD-UK 13 36083600 36083600 single base substitution A C intron_variant ESAD-UK 13 36083691 36083691 single base substitution T G intron_variant ESAD-UK 13 36083712 36083712 single base substitution T C intron_variant ESAD-UK 13 36084556 36084556 single base substitution T G intron_variant ESAD-UK 13 36084696 36084696 single base substitution T C intron_variant ESAD-UK 13 36084729 36084729 single base substitution T G intron_variant ESAD-UK 13 36084922 36084922 single base substitution T G intron_variant ESAD-UK 13 36085276 36085276 single base substitution A G intron_variant ESAD-UK 13 36085357 36085357 single base substitution A T intron_variant ESAD-UK 13 36085361 36085361 single base substitution T A intron_variant ESAD-UK 13 36085479 36085479 single base substitution G A intron_variant ESAD-UK 13 36085543 36085543 single base substitution G A intron_variant ESAD-UK 13 36085914 36085914 single base substitution A T intron_variant ESAD-UK 13 36086967 36086967 single base substitution C T intron_variant ESAD-UK 13 36087314 36087314 single base substitution C T intron_variant ESAD-UK 13 36087852 36087852 single base substitution G T intron_variant ESAD-UK 13 36088271 36088271 single base substitution A G intron_variant ESAD-UK 13 36088915 36088915 single base substitution G T intron_variant ESAD-UK 13 36089078 36089078 single base substitution C A intron_variant ESAD-UK 13 36089466 36089466 single base substitution A C intron_variant ESAD-UK 13 36089677 36089677 single base substitution T C intron_variant ESAD-UK 13 36089899 36089899 deletion of <=200bp A - intron_variant ESAD-UK 13 36090807 36090807 single base substitution G T intron_variant ESAD-UK 13 36091008 36091008 deletion of <=200bp T - intron_variant ESAD-UK 13 36091240 36091240 single base substitution C T intron_variant ESAD-UK 13 36091324 36091324 single base substitution T C intron_variant ESAD-UK 13 36091523 36091523 single base substitution T G intron_variant ESAD-UK 13 36091730 36091730 single base substitution A G intron_variant ESAD-UK 13 36091928 36091928 single base substitution A G intron_variant ESAD-UK 13 36092979 36092979 single base substitution T A intron_variant ESAD-UK 13 36093422 36093422 deletion of <=200bp A - intron_variant ESAD-UK 13 36094047 36094047 single base substitution C G intron_variant ESAD-UK 13 36094162 36094162 single base substitution C A intron_variant ESAD-UK 13 36094256 36094256 single base substitution A C intron_variant ESAD-UK 13 36094521 36094521 deletion of <=200bp A - intron_variant ESAD-UK 13 36094586 36094586 single base substitution T C intron_variant ESAD-UK 13 36094602 36094602 single base substitution A C intron_variant ESAD-UK 13 36094613 36094613 single base substitution G T intron_variant ESAD-UK 13 36094772 36094772 single base substitution T C intron_variant ESAD-UK 13 36094849 36094849 single base substitution T C intron_variant ESAD-UK 13 36095361 36095361 single base substitution A C intron_variant ESAD-UK 13 36097014 36097014 single base substitution C A intron_variant ESAD-UK 13 36097256 36097256 single base substitution T G intron_variant ESAD-UK 13 36097752 36097752 single base substitution G A intron_variant ESAD-UK 13 36097907 36097907 single base substitution C T intron_variant ESAD-UK 13 36098668 36098668 single base substitution A T intron_variant ESAD-UK 13 36099455 36099455 single base substitution G A intron_variant ESAD-UK 13 36099482 36099482 single base substitution A G intron_variant ESAD-UK 13 36099550 36099550 single base substitution C T intron_variant ESAD-UK 13 36099640 36099640 single base substitution A G intron_variant ESAD-UK 13 36099640 36099640 single base substitution A T intron_variant ESAD-UK 13 36099903 36099903 single base substitution T G intron_variant ESAD-UK 13 36099905 36099905 single base substitution A T intron_variant ESAD-UK 13 36100029 36100029 single base substitution C A intron_variant ESAD-UK 13 36100565 36100565 single base substitution T C intron_variant ESAD-UK 13 36100612 36100612 single base substitution G A intron_variant ESAD-UK 13 36101209 36101209 single base substitution A C intron_variant ESAD-UK 13 36101474 36101474 single base substitution T C intron_variant ESAD-UK 13 36101600 36101600 single base substitution A C intron_variant ESAD-UK 13 36101630 36101630 single base substitution C T intron_variant ESAD-UK 13 36101713 36101713 single base substitution T A intron_variant ESAD-UK 13 36102382 36102382 single base substitution C T intron_variant ESAD-UK 13 36102877 36102877 single base substitution A C intron_variant ESAD-UK 13 36102918 36102918 single base substitution T G intron_variant ESAD-UK 13 36103093 36103093 single base substitution A C intron_variant ESAD-UK 13 36103840 36103840 single base substitution A G intron_variant ESAD-UK 13 36104620 36104620 single base substitution A T intron_variant ESAD-UK 13 36104633 36104633 single base substitution C T intron_variant ESAD-UK 13 36104857 36104857 single base substitution T G intron_variant ESAD-UK 13 36104883 36104883 single base substitution C T intron_variant ESAD-UK 13 36104935 36104935 single base substitution T A intron_variant ESAD-UK 13 36106916 36106916 single base substitution T C intron_variant ESAD-UK 13 36107683 36107683 deletion of <=200bp T - intron_variant ESAD-UK 13 36108421 36108421 single base substitution C A intron_variant ESAD-UK 13 36108457 36108457 single base substitution T C intron_variant ESAD-UK 13 36108568 36108568 single base substitution G T intron_variant ESAD-UK 13 36109038 36109038 single base substitution T C intron_variant ESAD-UK 13 36109415 36109415 single base substitution A G intron_variant ESAD-UK 13 36110461 36110461 single base substitution A C intron_variant ESAD-UK 13 36110481 36110481 single base substitution A C intron_variant ESAD-UK 13 36110816 36110816 single base substitution G A intron_variant ESAD-UK 13 36111678 36111678 single base substitution A C intron_variant ESAD-UK 13 36112511 36112511 single base substitution T G intron_variant ESAD-UK 13 36112828 36112828 deletion of <=200bp T - intron_variant ESAD-UK 13 36112893 36112893 single base substitution G T intron_variant ESAD-UK 13 36114127 36114127 single base substitution A C intron_variant ESAD-UK 13 36114673 36114673 single base substitution A C intron_variant ESAD-UK 13 36114674 36114674 single base substitution A T intron_variant ESAD-UK 13 36115214 36115214 single base substitution G A intron_variant ESAD-UK 13 36115722 36115722 single base substitution A C intron_variant ESAD-UK 13 36116082 36116082 single base substitution T G intron_variant ESAD-UK 13 36116448 36116448 single base substitution T C intron_variant ESAD-UK 13 36117760 36117760 single base substitution A G intron_variant ESAD-UK 13 36118558 36118558 single base substitution G T intron_variant ESAD-UK 13 36118807 36118807 single base substitution A G intron_variant ESAD-UK 13 36118823 36118823 single base substitution T C intron_variant ESAD-UK 13 36119446 36119446 single base substitution G T intron_variant ESAD-UK 13 36119744 36119744 single base substitution A C intron_variant ESAD-UK 13 36119809 36119809 single base substitution A C intron_variant ESAD-UK 13 36120401 36120401 single base substitution A G intron_variant ESAD-UK 13 36120596 36120596 single base substitution A G intron_variant ESAD-UK 13 36120713 36120713 single base substitution G A intron_variant ESAD-UK 13 36120753 36120753 single base substitution G A intron_variant ESAD-UK 13 36121792 36121792 single base substitution A G intron_variant ESAD-UK 13 36121800 36121800 single base substitution G T intron_variant ESAD-UK 13 36122099 36122099 single base substitution G A intron_variant ESAD-UK 13 36122395 36122395 single base substitution A C intron_variant ESAD-UK 13 36122995 36122995 single base substitution A C intron_variant ESAD-UK 13 36122995 36122995 single base substitution A G intron_variant ESAD-UK 13 36123350 36123350 single base substitution T A intron_variant ESAD-UK 13 36123560 36123560 single base substitution A G intron_variant ESAD-UK 13 36124062 36124062 deletion of <=200bp T - intron_variant ESAD-UK 13 36124370 36124370 single base substitution T G intron_variant ESAD-UK 13 36124463 36124463 single base substitution T G intron_variant ESAD-UK 13 36124735 36124735 single base substitution A C splice_region_variant ESAD-UK 13 36124880 36124880 single base substitution G A intron_variant ESAD-UK 13 36125916 36125916 single base substitution T G intron_variant ESAD-UK 13 36126121 36126121 single base substitution C A intron_variant ESAD-UK 13 36126564 36126564 single base substitution T C intron_variant ESAD-UK 13 36126673 36126673 single base substitution A G intron_variant ESAD-UK 13 36126789 36126789 single base substitution T G intron_variant ESAD-UK 13 36126905 36126905 single base substitution T G intron_variant ESAD-UK 13 36127032 36127032 single base substitution T A intron_variant ESAD-UK 13 36127095 36127095 single base substitution T A intron_variant ESAD-UK 13 36127104 36127104 single base substitution C T intron_variant ESAD-UK 13 36127551 36127551 single base substitution T C intron_variant ESAD-UK 13 36127586 36127586 single base substitution T G intron_variant ESAD-UK 13 36127803 36127803 single base substitution T G intron_variant ESAD-UK 13 36128171 36128171 single base substitution A C intron_variant ESAD-UK 13 36128252 36128252 single base substitution A G intron_variant ESAD-UK 13 36128491 36128491 single base substitution T C intron_variant ESAD-UK 13 36129105 36129105 single base substitution T A intron_variant ESAD-UK 13 36129298 36129298 single base substitution T C intron_variant ESAD-UK 13 36129620 36129620 single base substitution G A intron_variant ESAD-UK 13 36129827 36129827 single base substitution A T intron_variant ESAD-UK 13 36130095 36130095 single base substitution A G intron_variant ESAD-UK 13 36130165 36130165 single base substitution T G intron_variant ESAD-UK 13 36130317 36130317 single base substitution T C intron_variant ESAD-UK 13 36130358 36130358 single base substitution T G intron_variant ESAD-UK 13 36130399 36130399 single base substitution A T intron_variant ESAD-UK 13 36130411 36130411 single base substitution T C intron_variant ESAD-UK 13 36130411 36130411 single base substitution T G intron_variant ESAD-UK 13 36131779 36131779 single base substitution G A intron_variant ESAD-UK 13 36131938 36131938 single base substitution T G intron_variant ESAD-UK 13 36131977 36131977 single base substitution A C intron_variant ESAD-UK 13 36131983 36131983 single base substitution G A intron_variant ESAD-UK 13 36132357 36132357 single base substitution G T intron_variant ESAD-UK 13 36132476 36132476 single base substitution T G intron_variant ESAD-UK 13 36133136 36133136 insertion of <=200bp - A intron_variant ESAD-UK 13 36133600 36133600 single base substitution T G intron_variant ESAD-UK 13 36134820 36134820 single base substitution A C intron_variant ESAD-UK 13 36134999 36134999 single base substitution C T intron_variant ESAD-UK 13 36135101 36135101 single base substitution C T intron_variant ESAD-UK 13 36135603 36135603 single base substitution A C intron_variant ESAD-UK 13 36135775 36135775 single base substitution T G intron_variant ESAD-UK 13 36136616 36136616 deletion of <=200bp T - intron_variant ESAD-UK 13 36137100 36137100 deletion of <=200bp T - intron_variant ESAD-UK 13 36137521 36137521 deletion of <=200bp T - intron_variant ESAD-UK 13 36137821 36137821 single base substitution C T intron_variant ESAD-UK 13 36137941 36137941 single base substitution T G intron_variant ESAD-UK 13 36138124 36138124 single base substitution G T intron_variant ESAD-UK 13 36138287 36138287 single base substitution T C intron_variant ESAD-UK 13 36138349 36138349 single base substitution A C intron_variant ESAD-UK 13 36138462 36138462 deletion of <=200bp A - intron_variant ESAD-UK 13 36138690 36138690 single base substitution A C intron_variant ESAD-UK 13 36139404 36139404 single base substitution T A intron_variant ESAD-UK 13 36139408 36139408 single base substitution T C intron_variant ESAD-UK 13 36139657 36139657 single base substitution A G intron_variant ESAD-UK 13 36140059 36140059 single base substitution G A intron_variant ESAD-UK 13 36140093 36140093 single base substitution C T intron_variant ESAD-UK 13 36140234 36140234 single base substitution T G intron_variant ESAD-UK 13 36140235 36140235 single base substitution C T intron_variant ESAD-UK 13 36140348 36140348 single base substitution A C intron_variant ESAD-UK 13 36140367 36140367 single base substitution G A intron_variant ESAD-UK 13 36140772 36140772 single base substitution A G intron_variant ESAD-UK 13 36141774 36141774 single base substitution T G intron_variant ESAD-UK 13 36141980 36141980 single base substitution T G intron_variant ESAD-UK 13 36142088 36142088 single base substitution A C intron_variant ESAD-UK 13 36142088 36142088 single base substitution A T intron_variant ESAD-UK 13 36142556 36142556 single base substitution T A intron_variant ESAD-UK 13 36143167 36143167 single base substitution A C intron_variant ESAD-UK 13 36143531 36143531 single base substitution A C intron_variant ESAD-UK 13 36143659 36143659 single base substitution T G intron_variant ESAD-UK 13 36144279 36144279 single base substitution T C intron_variant ESAD-UK 13 36144309 36144309 single base substitution T C intron_variant ESAD-UK 13 36144341 36144341 single base substitution T G intron_variant ESAD-UK 13 36144529 36144529 single base substitution C T intron_variant ESAD-UK 13 36144731 36144731 single base substitution C T intron_variant ESAD-UK 13 36144827 36144827 single base substitution T C intron_variant ESAD-UK 13 36144851 36144851 single base substitution C A intron_variant ESAD-UK 13 36145122 36145122 single base substitution A C intron_variant ESAD-UK 13 36145314 36145314 single base substitution C T intron_variant ESAD-UK 13 36145722 36145722 single base substitution A C intron_variant ESAD-UK 13 36146037 36146037 single base substitution C G intron_variant ESAD-UK 13 36146465 36146465 single base substitution T G intron_variant ESAD-UK 13 36146759 36146759 single base substitution C T intron_variant ESAD-UK 13 36146938 36146938 single base substitution T G intron_variant ESAD-UK 13 36146966 36146966 single base substitution A C intron_variant ESAD-UK 13 36146966 36146966 single base substitution A T intron_variant ESAD-UK 13 36147108 36147108 single base substitution G T intron_variant ESAD-UK 13 36147326 36147326 single base substitution T C intron_variant ESAD-UK 13 36147388 36147388 single base substitution T A intron_variant ESAD-UK 13 36147730 36147730 single base substitution T G intron_variant ESAD-UK 13 36147756 36147756 single base substitution T A intron_variant ESAD-UK 13 36148042 36148042 single base substitution T G intron_variant ESAD-UK 13 36148135 36148135 single base substitution T C intron_variant ESAD-UK 13 36148539 36148539 insertion of <=200bp - A intron_variant ESAD-UK 13 36148756 36148756 single base substitution C T intron_variant ESAD-UK 13 36148973 36148973 single base substitution G A intron_variant ESAD-UK 13 36149127 36149127 single base substitution T G intron_variant ESAD-UK 13 36149272 36149272 single base substitution A G intron_variant ESAD-UK 13 36149473 36149473 single base substitution C T intron_variant ESAD-UK 13 36149600 36149600 single base substitution T C intron_variant ESAD-UK 13 36149837 36149837 single base substitution T C intron_variant ESAD-UK 13 36150024 36150024 deletion of <=200bp T - intron_variant ESAD-UK 13 36150317 36150317 insertion of <=200bp - A intron_variant ESAD-UK 13 36150678 36150678 single base substitution A G intron_variant ESAD-UK 13 36150770 36150770 single base substitution C A intron_variant ESAD-UK 13 36150983 36150983 single base substitution T G intron_variant ESAD-UK 13 36151044 36151044 single base substitution T C intron_variant ESAD-UK 13 36151860 36151860 single base substitution T C intron_variant ESAD-UK 13 36152059 36152059 single base substitution A G intron_variant ESAD-UK 13 36152384 36152384 single base substitution T G intron_variant ESAD-UK 13 36152563 36152563 single base substitution G A intron_variant ESAD-UK 13 36152762 36152762 single base substitution G T intron_variant ESAD-UK 13 36153279 36153279 single base substitution G C intron_variant ESAD-UK 13 36154125 36154125 single base substitution G A intron_variant ESAD-UK 13 36154407 36154407 single base substitution T G intron_variant ESAD-UK 13 36154749 36154749 single base substitution T G intron_variant ESAD-UK 13 36155050 36155050 single base substitution T C intron_variant ESAD-UK 13 36157584 36157584 single base substitution G T intron_variant ESAD-UK 13 36157743 36157743 single base substitution T C intron_variant ESAD-UK 13 36158001 36158001 single base substitution T G intron_variant ESAD-UK 13 36158354 36158354 single base substitution A C intron_variant ESAD-UK 13 36159221 36159221 single base substitution T A intron_variant ESAD-UK 13 36159507 36159507 deletion of <=200bp T - intron_variant ESAD-UK 13 36159701 36159701 single base substitution A C intron_variant ESAD-UK 13 36159977 36159977 single base substitution G A intron_variant ESAD-UK 13 36160079 36160079 single base substitution A T intron_variant ESAD-UK 13 36160301 36160301 single base substitution C T intron_variant ESAD-UK 13 36161265 36161265 single base substitution C T intron_variant ESAD-UK 13 36161402 36161402 single base substitution A G intron_variant ESAD-UK 13 36161663 36161663 single base substitution G C intron_variant ESAD-UK 13 36161853 36161853 single base substitution A C intron_variant ESAD-UK 13 36162983 36162983 single base substitution C A intron_variant ESAD-UK 13 36162983 36162983 single base substitution C A upstream_gene_variant ESAD-UK 13 36163122 36163122 single base substitution A C intron_variant ESAD-UK 13 36163122 36163122 single base substitution A C upstream_gene_variant ESAD-UK 13 36163260 36163260 single base substitution A G intron_variant ESAD-UK 13 36163260 36163260 single base substitution A G upstream_gene_variant ESAD-UK 13 36163260 36163260 single base substitution A T intron_variant ESAD-UK 13 36163260 36163260 single base substitution A T upstream_gene_variant ESAD-UK 13 36163344 36163344 single base substitution T C intron_variant ESAD-UK 13 36163344 36163344 single base substitution T C upstream_gene_variant ESAD-UK 13 36163872 36163872 single base substitution A G intron_variant ESAD-UK 13 36163872 36163872 single base substitution A G upstream_gene_variant ESAD-UK 13 36164022 36164022 single base substitution A C intron_variant ESAD-UK 13 36164022 36164022 single base substitution A C upstream_gene_variant ESAD-UK 13 36164599 36164599 single base substitution T G intron_variant ESAD-UK 13 36164599 36164599 single base substitution T G upstream_gene_variant ESAD-UK 13 36164940 36164940 single base substitution T G intron_variant ESAD-UK 13 36164940 36164940 single base substitution T G upstream_gene_variant ESAD-UK 13 36165061 36165061 single base substitution T G intron_variant ESAD-UK 13 36165061 36165061 single base substitution T G upstream_gene_variant ESAD-UK 13 36165545 36165545 single base substitution A G intron_variant ESAD-UK 13 36165545 36165545 single base substitution A G upstream_gene_variant ESAD-UK 13 36165608 36165608 single base substitution T A intron_variant ESAD-UK 13 36165608 36165608 single base substitution T A upstream_gene_variant ESAD-UK 13 36166054 36166054 single base substitution C T intron_variant ESAD-UK 13 36166054 36166054 single base substitution C T upstream_gene_variant ESAD-UK 13 36166068 36166068 single base substitution T C intron_variant ESAD-UK 13 36166068 36166068 single base substitution T C upstream_gene_variant ESAD-UK 13 36166258 36166258 single base substitution G T intron_variant ESAD-UK 13 36166258 36166258 single base substitution G T upstream_gene_variant ESAD-UK 13 36166449 36166449 single base substitution G A intron_variant ESAD-UK 13 36166449 36166449 single base substitution G A upstream_gene_variant ESAD-UK 13 36166554 36166554 single base substitution A T intron_variant ESAD-UK 13 36166554 36166554 single base substitution A T upstream_gene_variant ESAD-UK 13 36166845 36166845 single base substitution C T intron_variant ESAD-UK 13 36166845 36166845 single base substitution C T upstream_gene_variant ESAD-UK 13 36166936 36166936 single base substitution T G intron_variant ESAD-UK 13 36166936 36166936 single base substitution T G upstream_gene_variant ESAD-UK 13 36167487 36167487 single base substitution T G 5_prime_UTR_variant ESAD-UK 13 36167487 36167487 single base substitution T G missense_variant L193R 578T>G ESAD-UK 13 36167487 36167487 single base substitution T G missense_variant L2397R 7190T>G ESAD-UK 13 36167487 36167487 single base substitution T G missense_variant L2400R 7199T>G ESAD-UK 13 36167641 36167641 deletion of <=200bp T - intron_variant ESAD-UK 13 36168431 36168431 single base substitution A C intron_variant ESAD-UK 13 36168640 36168640 single base substitution T C intron_variant ESAD-UK 13 36170318 36170318 single base substitution C T intron_variant ESAD-UK 13 36170774 36170774 single base substitution T G intron_variant ESAD-UK 13 36171428 36171428 single base substitution T G intron_variant ESAD-UK 13 36171448 36171448 single base substitution T G intron_variant ESAD-UK 13 36171458 36171458 single base substitution T G intron_variant ESAD-UK 13 36171637 36171637 single base substitution T G intron_variant ESAD-UK 13 36172014 36172014 single base substitution T C intron_variant ESAD-UK 13 36172039 36172039 single base substitution C A intron_variant ESAD-UK 13 36172227 36172227 single base substitution A G intron_variant ESAD-UK 13 36173583 36173583 single base substitution A G intron_variant ESAD-UK 13 36173861 36173861 single base substitution G T intron_variant ESAD-UK 13 36174207 36174207 single base substitution C T intron_variant ESAD-UK 13 36174430 36174430 single base substitution A T intron_variant ESAD-UK 13 36174452 36174452 single base substitution G A intron_variant ESAD-UK 13 36174479 36174479 single base substitution T A intron_variant ESAD-UK 13 36174518 36174518 single base substitution T G intron_variant ESAD-UK 13 36174829 36174829 single base substitution T G intron_variant ESAD-UK 13 36174875 36174875 single base substitution G T intron_variant ESAD-UK 13 36174935 36174935 single base substitution A G intron_variant ESAD-UK 13 36175301 36175301 single base substitution A G intron_variant ESAD-UK 13 36175321 36175321 single base substitution A C intron_variant ESAD-UK 13 36175323 36175323 single base substitution A C intron_variant ESAD-UK 13 36175433 36175433 single base substitution T A intron_variant ESAD-UK 13 36175698 36175698 single base substitution A G intron_variant ESAD-UK 13 36175723 36175723 single base substitution A G intron_variant ESAD-UK 13 36176037 36176037 single base substitution G A intron_variant ESAD-UK 13 36176144 36176144 single base substitution A G intron_variant ESAD-UK 13 36176612 36176612 single base substitution T G intron_variant ESAD-UK 13 36177477 36177477 single base substitution A T intron_variant ESAD-UK 13 36178741 36178741 single base substitution A T intron_variant ESAD-UK 13 36179288 36179288 single base substitution T A intron_variant ESAD-UK 13 36180039 36180039 single base substitution A T intron_variant ESAD-UK 13 36180371 36180371 single base substitution T G intron_variant ESAD-UK 13 36180695 36180695 single base substitution T G missense_variant F2474V 7420T>G ESAD-UK 13 36180695 36180695 single base substitution T G missense_variant F2477V 7429T>G ESAD-UK 13 36180695 36180695 single base substitution T G missense_variant F270V 808T>G ESAD-UK 13 36180695 36180695 single base substitution T G missense_variant F34V 100T>G ESAD-UK 13 36180702 36180702 single base substitution G A missense_variant R2476Q 7427G>A ESAD-UK 13 36180702 36180702 single base substitution G A missense_variant R2479Q 7436G>A ESAD-UK 13 36180702 36180702 single base substitution G A missense_variant R272Q 815G>A ESAD-UK 13 36180702 36180702 single base substitution G A missense_variant R36Q 107G>A ESAD-UK 13 36180750 36180750 single base substitution C A intron_variant ESAD-UK 13 36181072 36181072 single base substitution T C intron_variant ESAD-UK 13 36181429 36181429 single base substitution A G intron_variant ESAD-UK 13 36181543 36181543 single base substitution T A intron_variant ESAD-UK 13 36181978 36181978 single base substitution A G intron_variant ESAD-UK 13 36182131 36182131 single base substitution C A intron_variant ESAD-UK 13 36182171 36182171 single base substitution A C intron_variant ESAD-UK 13 36183123 36183123 single base substitution A C intron_variant ESAD-UK 13 36183528 36183528 single base substitution T G intron_variant ESAD-UK 13 36183614 36183614 single base substitution T A intron_variant ESAD-UK 13 36183631 36183631 single base substitution G A intron_variant ESAD-UK 13 36183872 36183872 single base substitution A G intron_variant ESAD-UK 13 36183923 36183923 single base substitution A G intron_variant ESAD-UK 13 36184711 36184711 single base substitution A C intron_variant ESAD-UK 13 36184770 36184770 single base substitution A G intron_variant ESAD-UK 13 36184954 36184954 single base substitution A C intron_variant ESAD-UK 13 36185184 36185184 single base substitution A G intron_variant ESAD-UK 13 36185734 36185734 single base substitution G C intron_variant ESAD-UK 13 36185765 36185765 single base substitution G A intron_variant ESAD-UK 13 36185831 36185831 single base substitution C A intron_variant ESAD-UK 13 36186106 36186106 single base substitution T G intron_variant ESAD-UK 13 36186415 36186415 single base substitution G A intron_variant ESAD-UK 13 36187249 36187249 single base substitution A C intron_variant ESAD-UK 13 36187746 36187746 insertion of <=200bp - TTTG intron_variant ESAD-UK 13 36187946 36187946 single base substitution T C intron_variant ESAD-UK 13 36188458 36188458 single base substitution A G intron_variant ESAD-UK 13 36188750 36188750 single base substitution A C intron_variant ESAD-UK 13 36188750 36188750 single base substitution A T intron_variant ESAD-UK 13 36189138 36189138 single base substitution T C intron_variant ESAD-UK 13 36189380 36189380 single base substitution A G intron_variant ESAD-UK 13 36189641 36189641 single base substitution C T intron_variant ESAD-UK 13 36189644 36189644 single base substitution C A intron_variant ESAD-UK 13 36190054 36190054 single base substitution C T intron_variant ESAD-UK 13 36190373 36190373 single base substitution C G intron_variant ESAD-UK 13 36190480 36190480 single base substitution C T intron_variant ESAD-UK 13 36190497 36190497 single base substitution T G intron_variant ESAD-UK 13 36190645 36190645 single base substitution T G intron_variant ESAD-UK 13 36190709 36190709 single base substitution T C intron_variant ESAD-UK 13 36191089 36191089 single base substitution G T intron_variant ESAD-UK 13 36191163 36191163 single base substitution T G intron_variant ESAD-UK 13 36191672 36191672 single base substitution T C intron_variant ESAD-UK 13 36191829 36191829 single base substitution A C intron_variant ESAD-UK 13 36191874 36191874 single base substitution T A intron_variant ESAD-UK 13 36192594 36192594 single base substitution A C intron_variant ESAD-UK 13 36192656 36192656 single base substitution A G intron_variant ESAD-UK 13 36192683 36192683 single base substitution A C intron_variant ESAD-UK 13 36193052 36193052 single base substitution A C intron_variant ESAD-UK 13 36193378 36193378 single base substitution G A intron_variant ESAD-UK 13 36194400 36194400 single base substitution T C intron_variant ESAD-UK 13 36194619 36194619 single base substitution C A intron_variant ESAD-UK 13 36196350 36196350 single base substitution A G intron_variant ESAD-UK 13 36196572 36196572 single base substitution T G intron_variant ESAD-UK 13 36196640 36196640 single base substitution C T intron_variant ESAD-UK 13 36196752 36196752 single base substitution T G intron_variant ESAD-UK 13 36196760 36196760 single base substitution A C intron_variant ESAD-UK 13 36197254 36197254 single base substitution A C intron_variant ESAD-UK 13 36197864 36197864 single base substitution T A intron_variant ESAD-UK 13 36198092 36198092 single base substitution A C intron_variant ESAD-UK 13 36198092 36198092 single base substitution A G intron_variant ESAD-UK 13 36198594 36198594 single base substitution G A intron_variant ESAD-UK 13 36199800 36199800 single base substitution A C intron_variant ESAD-UK 13 36200073 36200073 single base substitution G A intron_variant ESAD-UK 13 36200226 36200226 single base substitution G A intron_variant ESAD-UK 13 36200447 36200447 single base substitution G A intron_variant ESAD-UK 13 36200639 36200639 single base substitution C A intron_variant ESAD-UK 13 36200709 36200709 single base substitution T C intron_variant ESAD-UK 13 36201316 36201316 single base substitution G A intron_variant ESAD-UK 13 36201560 36201560 single base substitution T C intron_variant ESAD-UK 13 36201582 36201582 single base substitution T G intron_variant ESAD-UK 13 36201743 36201743 single base substitution T C intron_variant ESAD-UK 13 36202112 36202112 single base substitution A G intron_variant ESAD-UK 13 36202329 36202329 single base substitution T C synonymous_variant L2518L 7552T>C ESAD-UK 13 36202329 36202329 single base substitution T C synonymous_variant L2521L 7561T>C ESAD-UK 13 36202329 36202329 single base substitution T C synonymous_variant L314L 940T>C ESAD-UK 13 36202329 36202329 single base substitution T C synonymous_variant L78L 232T>C ESAD-UK 13 36202405 36202406 deletion of <=200bp TT - intron_variant ESAD-UK 13 36202410 36202415 deletion of <=200bp CCAAAA - intron_variant ESAD-UK 13 36202626 36202626 single base substitution T G intron_variant ESAD-UK 13 36202638 36202638 single base substitution T G intron_variant ESAD-UK 13 36202791 36202791 single base substitution T G intron_variant ESAD-UK 13 36202822 36202822 single base substitution A C intron_variant ESAD-UK 13 36202942 36202942 single base substitution C G intron_variant ESAD-UK 13 36203005 36203005 single base substitution A G intron_variant ESAD-UK 13 36203159 36203159 single base substitution T C intron_variant ESAD-UK 13 36203179 36203179 single base substitution T G intron_variant ESAD-UK 13 36203627 36203627 single base substitution T G intron_variant ESAD-UK 13 36204147 36204147 single base substitution A C intron_variant ESAD-UK 13 36204154 36204154 single base substitution C T intron_variant ESAD-UK 13 36204235 36204235 single base substitution A C intron_variant ESAD-UK 13 36204938 36204938 single base substitution A T intron_variant ESAD-UK 13 36205133 36205133 single base substitution A C intron_variant ESAD-UK 13 36205175 36205175 single base substitution C T intron_variant ESAD-UK 13 36205661 36205661 single base substitution T C intron_variant ESAD-UK 13 36206641 36206641 single base substitution T C intron_variant ESAD-UK 13 36206672 36206672 single base substitution G A intron_variant ESAD-UK 13 36207606 36207606 single base substitution G A intron_variant ESAD-UK 13 36208568 36208568 single base substitution T A intron_variant ESAD-UK 13 36208691 36208691 single base substitution C T intron_variant ESAD-UK 13 36209348 36209348 single base substitution T C intron_variant ESAD-UK 13 36210039 36210039 single base substitution A G intron_variant ESAD-UK 13 36210395 36210395 single base substitution G T intron_variant ESAD-UK 13 36210723 36210723 single base substitution T C intron_variant ESAD-UK 13 36210761 36210761 single base substitution G T intron_variant ESAD-UK 13 36210837 36210837 single base substitution T G intron_variant ESAD-UK 13 36211280 36211280 single base substitution C T intron_variant ESAD-UK 13 36211537 36211537 single base substitution C T intron_variant ESAD-UK 13 36211568 36211568 single base substitution A G intron_variant ESAD-UK 13 36212853 36212853 single base substitution T A intron_variant ESAD-UK 13 36213112 36213112 single base substitution G T intron_variant ESAD-UK 13 36213631 36213631 single base substitution A G intron_variant ESAD-UK 13 36213702 36213702 single base substitution T C intron_variant ESAD-UK 13 36213743 36213743 single base substitution A G intron_variant ESAD-UK 13 36213862 36213862 single base substitution A G intron_variant ESAD-UK 13 36214191 36214191 single base substitution A C intron_variant ESAD-UK 13 36214225 36214225 single base substitution C A intron_variant ESAD-UK 13 36214226 36214226 single base substitution T C intron_variant ESAD-UK 13 36214401 36214401 single base substitution A T intron_variant ESAD-UK 13 36214989 36214989 single base substitution T G intron_variant ESAD-UK 13 36215092 36215092 single base substitution A C intron_variant ESAD-UK 13 36215216 36215216 single base substitution A C intron_variant ESAD-UK 13 36215959 36215959 single base substitution G T intron_variant ESAD-UK 13 36216973 36216973 single base substitution A G intron_variant ESAD-UK 13 36217037 36217037 single base substitution A C intron_variant ESAD-UK 13 36217421 36217421 single base substitution C A intron_variant ESAD-UK 13 36217525 36217525 single base substitution A C intron_variant ESAD-UK 13 36218002 36218002 single base substitution A T intron_variant ESAD-UK 13 36218071 36218071 single base substitution T G intron_variant ESAD-UK 13 36218368 36218368 single base substitution C T intron_variant ESAD-UK 13 36218486 36218486 single base substitution A C intron_variant ESAD-UK 13 36218757 36218757 single base substitution G T intron_variant ESAD-UK 13 36218985 36218985 single base substitution A C intron_variant ESAD-UK 13 36218989 36218989 single base substitution T G intron_variant ESAD-UK 13 36219120 36219120 single base substitution C T intron_variant ESAD-UK 13 36220309 36220309 single base substitution T G intron_variant ESAD-UK 13 36220601 36220601 single base substitution A C intron_variant ESAD-UK 13 36220677 36220677 single base substitution T G intron_variant ESAD-UK 13 36221147 36221147 single base substitution A C intron_variant ESAD-UK 13 36221288 36221288 single base substitution T C intron_variant ESAD-UK 13 36221319 36221319 single base substitution A C intron_variant ESAD-UK 13 36221445 36221445 single base substitution T G intron_variant ESAD-UK 13 36221666 36221666 single base substitution A G intron_variant ESAD-UK 13 36221879 36221880 deletion of <=200bp TT - intron_variant ESAD-UK 13 36221885 36221885 single base substitution G A intron_variant ESAD-UK 13 36221927 36221927 single base substitution C A intron_variant ESAD-UK 13 36222115 36222115 single base substitution C T intron_variant ESAD-UK 13 36222181 36222181 single base substitution T G intron_variant ESAD-UK 13 36222207 36222207 single base substitution G T intron_variant ESAD-UK 13 36222562 36222562 single base substitution C T intron_variant ESAD-UK 13 36222748 36222748 single base substitution A C intron_variant ESAD-UK 13 36222809 36222809 single base substitution A C intron_variant ESAD-UK 13 36222896 36222896 single base substitution T C intron_variant ESAD-UK 13 36223205 36223205 single base substitution A G intron_variant ESAD-UK 13 36223589 36223589 single base substitution T G intron_variant ESAD-UK 13 36223678 36223678 single base substitution T C intron_variant ESAD-UK 13 36224667 36224667 single base substitution C T intron_variant ESAD-UK 13 36225147 36225147 single base substitution T A intron_variant ESAD-UK 13 36225522 36225522 single base substitution A G intron_variant ESAD-UK 13 36225746 36225746 single base substitution G A intron_variant ESAD-UK 13 36225948 36225948 single base substitution G A missense_variant R214K 641G>A ESAD-UK 13 36225948 36225948 single base substitution G A missense_variant R2633K 7898G>A ESAD-UK 13 36225948 36225948 single base substitution G A missense_variant R2636K 7907G>A ESAD-UK 13 36225948 36225948 single base substitution G A missense_variant R429K 1286G>A ESAD-UK 13 36225976 36225976 single base substitution A C missense_variant Q223H 669A>C ESAD-UK 13 36225976 36225976 single base substitution A C missense_variant Q2642H 7926A>C ESAD-UK 13 36225976 36225976 single base substitution A C missense_variant Q2645H 7935A>C ESAD-UK 13 36225976 36225976 single base substitution A C missense_variant Q438H 1314A>C ESAD-UK 13 36226107 36226107 single base substitution A G intron_variant ESAD-UK 13 36226182 36226182 single base substitution C T intron_variant ESAD-UK 13 36227032 36227032 single base substitution C T intron_variant ESAD-UK 13 36227239 36227239 single base substitution A G intron_variant ESAD-UK 13 36227564 36227564 single base substitution T G intron_variant ESAD-UK 13 36227703 36227703 single base substitution A C intron_variant ESAD-UK 13 36228375 36228375 single base substitution C T intron_variant ESAD-UK 13 36228581 36228581 single base substitution T A intron_variant ESAD-UK 13 36228581 36228581 single base substitution T G intron_variant ESAD-UK 13 36228828 36228828 single base substitution C T intron_variant ESAD-UK 13 36228958 36228958 single base substitution C A intron_variant ESAD-UK 13 36229722 36229722 single base substitution T G missense_variant L2709W 8126T>G ESAD-UK 13 36229722 36229722 single base substitution T G missense_variant L2712W 8135T>G ESAD-UK 13 36229722 36229722 single base substitution T G missense_variant L290W 869T>G ESAD-UK 13 36229722 36229722 single base substitution T G missense_variant L505W 1514T>G ESAD-UK 13 36229817 36229817 single base substitution C G missense_variant R2741G 8221C>G ESAD-UK 13 36229817 36229817 single base substitution C G missense_variant R2744G 8230C>G ESAD-UK 13 36229817 36229817 single base substitution C G missense_variant R322G 964C>G ESAD-UK 13 36229817 36229817 single base substitution C G missense_variant R537G 1609C>G ESAD-UK 13 36229978 36229978 single base substitution T C intron_variant ESAD-UK 13 36230097 36230097 single base substitution C T intron_variant ESAD-UK 13 36230250 36230250 single base substitution A C intron_variant ESAD-UK 13 36230548 36230548 deletion of <=200bp T - intron_variant ESAD-UK 13 36230643 36230643 single base substitution T G intron_variant ESAD-UK 13 36231205 36231205 single base substitution G A intron_variant ESAD-UK 13 36231485 36231485 single base substitution C A intron_variant ESAD-UK 13 36231763 36231763 single base substitution A C intron_variant ESAD-UK 13 36231868 36231868 single base substitution A G intron_variant ESAD-UK 13 36232054 36232054 single base substitution A T intron_variant ESAD-UK 13 36232814 36232814 single base substitution C T intron_variant ESAD-UK 13 36233142 36233142 single base substitution T C intron_variant ESAD-UK 13 36233415 36233415 single base substitution T A intron_variant ESAD-UK 13 36234399 36234399 single base substitution A G intron_variant ESAD-UK 13 36234580 36234580 single base substitution C A intron_variant ESAD-UK 13 36234796 36234796 single base substitution C T intron_variant ESAD-UK 13 36234958 36234958 single base substitution G T intron_variant ESAD-UK 13 36235465 36235465 single base substitution T C intron_variant ESAD-UK 13 36236054 36236054 single base substitution G A intron_variant ESAD-UK 13 36236494 36236494 single base substitution C T intron_variant ESAD-UK 13 36236908 36236908 deletion of <=200bp T - intron_variant ESAD-UK 13 36237060 36237060 single base substitution T G intron_variant ESAD-UK 13 36237170 36237170 single base substitution T G intron_variant ESAD-UK 13 36237471 36237471 single base substitution T G intron_variant ESAD-UK 13 36237534 36237534 single base substitution T G intron_variant ESAD-UK 13 36237900 36237900 single base substitution C A intron_variant ESAD-UK 13 36238259 36238259 single base substitution A G intron_variant ESAD-UK 13 36238727 36238727 single base substitution T G intron_variant ESAD-UK 13 36238765 36238765 single base substitution C T intron_variant ESAD-UK 13 36239084 36239084 single base substitution A C intron_variant ESAD-UK 13 36239297 36239297 single base substitution T G missense_variant L2789R 8366T>G ESAD-UK 13 36239297 36239297 single base substitution T G missense_variant L2792R 8375T>G ESAD-UK 13 36239297 36239297 single base substitution T G missense_variant L370R 1109T>G ESAD-UK 13 36239297 36239297 single base substitution T G missense_variant L585R 1754T>G ESAD-UK 13 36239569 36239569 single base substitution T G intron_variant ESAD-UK 13 36239688 36239688 single base substitution A C intron_variant ESAD-UK 13 36239933 36239933 single base substitution T G intron_variant ESAD-UK 13 36240353 36240353 single base substitution A G intron_variant ESAD-UK 13 36240353 36240353 single base substitution A G upstream_gene_variant ESAD-UK 13 36240396 36240396 single base substitution C T intron_variant ESAD-UK 13 36240396 36240396 single base substitution C T upstream_gene_variant ESAD-UK 13 36240948 36240948 single base substitution T A intron_variant ESAD-UK 13 36240948 36240948 single base substitution T A upstream_gene_variant ESAD-UK 13 36241471 36241471 single base substitution G A intron_variant ESAD-UK 13 36241471 36241471 single base substitution G A upstream_gene_variant ESAD-UK 13 36241796 36241796 single base substitution C A intron_variant ESAD-UK 13 36241796 36241796 single base substitution C A upstream_gene_variant ESAD-UK 13 36241846 36241846 single base substitution C T intron_variant ESAD-UK 13 36241846 36241846 single base substitution C T upstream_gene_variant ESAD-UK 13 36241935 36241935 single base substitution G T intron_variant ESAD-UK 13 36241935 36241935 single base substitution G T upstream_gene_variant ESAD-UK 13 36242824 36242824 single base substitution G T intron_variant ESAD-UK 13 36242824 36242824 single base substitution G T upstream_gene_variant ESAD-UK 13 36243333 36243333 single base substitution T G intron_variant ESAD-UK 13 36243333 36243333 single base substitution T G upstream_gene_variant ESAD-UK 13 36243517 36243517 single base substitution A G intron_variant ESAD-UK 13 36243517 36243517 single base substitution A G upstream_gene_variant ESAD-UK 13 36243560 36243560 single base substitution A C intron_variant ESAD-UK 13 36243560 36243560 single base substitution A C upstream_gene_variant ESAD-UK 13 36243615 36243615 single base substitution A T intron_variant ESAD-UK 13 36243615 36243615 single base substitution A T upstream_gene_variant ESAD-UK 13 36243912 36243912 single base substitution A G intron_variant ESAD-UK 13 36243912 36243912 single base substitution A G upstream_gene_variant ESAD-UK 13 36244871 36244871 single base substitution A C intron_variant ESAD-UK 13 36244871 36244871 single base substitution A C upstream_gene_variant ESAD-UK 13 36245472 36245472 single base substitution A T 3_prime_UTR_variant ESAD-UK 13 36245472 36245472 single base substitution A T intron_variant ESAD-UK 13 36245752 36245752 single base substitution G T 3_prime_UTR_variant ESAD-UK 13 36245752 36245752 single base substitution G T downstream_gene_variant ESAD-UK 13 36245752 36245752 single base substitution G T intron_variant ESAD-UK 13 36245877 36245877 single base substitution C A 3_prime_UTR_variant ESAD-UK 13 36245877 36245877 single base substitution C A downstream_gene_variant ESAD-UK 13 36245877 36245877 single base substitution C A intron_variant ESAD-UK 13 36245894 36245894 single base substitution T C 3_prime_UTR_variant ESAD-UK 13 36245894 36245894 single base substitution T C downstream_gene_variant ESAD-UK 13 36245894 36245894 single base substitution T C intron_variant ESAD-UK 13 36246536 36246536 single base substitution T G 3_prime_UTR_variant ESAD-UK 13 36246536 36246536 single base substitution T G downstream_gene_variant ESAD-UK 13 36246536 36246536 single base substitution T G intron_variant ESAD-UK 13 36246737 36246737 single base substitution G C 3_prime_UTR_variant ESAD-UK 13 36246737 36246737 single base substitution G C downstream_gene_variant ESAD-UK 13 36246737 36246737 single base substitution G C intron_variant ESAD-UK 13 36246820 36246820 single base substitution G C 3_prime_UTR_variant ESAD-UK 13 36246820 36246820 single base substitution G C downstream_gene_variant ESAD-UK 13 36246820 36246820 single base substitution G C intron_variant ESAD-UK 13 36246841 36246841 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 13 36246841 36246841 insertion of <=200bp - A downstream_gene_variant ESAD-UK 13 36246841 36246841 insertion of <=200bp - A intron_variant ESAD-UK 13 36247020 36247020 single base substitution G T downstream_gene_variant ESAD-UK 13 36247020 36247020 single base substitution G T exon_variant ESAD-UK 13 36247084 36247084 single base substitution C T downstream_gene_variant ESAD-UK 13 36247084 36247084 single base substitution C T exon_variant ESAD-UK 13 36247480 36247480 single base substitution G A downstream_gene_variant ESAD-UK 13 36247559 36247559 single base substitution C G downstream_gene_variant ESAD-UK 13 36247692 36247692 single base substitution G A downstream_gene_variant ESAD-UK 13 36247866 36247866 single base substitution T A downstream_gene_variant ESAD-UK 13 36247957 36247957 single base substitution T G downstream_gene_variant ESAD-UK 13 36248585 36248585 single base substitution G A downstream_gene_variant ESAD-UK 13 36248601 36248601 single base substitution G A downstream_gene_variant ESAD-UK 13 36249169 36249169 single base substitution A G downstream_gene_variant ESAD-UK 13 36249540 36249540 single base substitution T G downstream_gene_variant ESAD-UK 13 36249664 36249664 single base substitution A G downstream_gene_variant ESAD-UK 13 36250122 36250122 single base substitution G A downstream_gene_variant ESAD-UK 13 36250197 36250197 single base substitution G C downstream_gene_variant ESAD-UK 13 36250216 36250216 single base substitution A G downstream_gene_variant ESAD-UK 13 36250444 36250444 single base substitution C T downstream_gene_variant ESAD-UK 13 36250523 36250523 single base substitution C A downstream_gene_variant ESAD-UK 13 36250603 36250603 single base substitution A G downstream_gene_variant ESAD-UK 13 36250817 36250817 single base substitution G C downstream_gene_variant ESAD-UK 13 36250852 36250852 single base substitution C T downstream_gene_variant ESAD-UK 13 36250899 36250899 single base substitution G T downstream_gene_variant ESAD-UK 13 36251186 36251186 single base substitution T G downstream_gene_variant ESAD-UK 13 36251230 36251230 single base substitution T G downstream_gene_variant ESAD-UK 13 36251356 36251356 single base substitution T C downstream_gene_variant ESAD-UK 13 36251393 36251393 single base substitution A C downstream_gene_variant ESAD-UK 13 36251417 36251417 single base substitution T C downstream_gene_variant ESAD-UK 13 36251444 36251444 single base substitution C G downstream_gene_variant ESAD-UK 13 36251626 36251626 single base substitution A C downstream_gene_variant ESAD-UK 13 36251628 36251628 single base substitution T G downstream_gene_variant ESAD-UK 13 36251832 36251832 single base substitution A C downstream_gene_variant ESAD-UK 13 36251893 36251893 single base substitution A C downstream_gene_variant ESCA-CN 13 35632919 35632919 single base substitution A T missense_variant Q386H 1158A>T ESCA-CN 13 35633082 35633082 single base substitution T C intron_variant ESCA-CN 13 35716415 35716415 single base substitution T C synonymous_variant V782V 2346T>C ESCA-CN 13 35730238 35730238 single base substitution C T missense_variant A849V 2546C>T ESCA-CN 13 35735999 35735999 single base substitution G A missense_variant R1325Q 3974G>A ESCA-CN 13 35758160 35758160 single base substitution C A missense_variant L1624I 4870C>A ESCA-CN 13 35758160 35758160 single base substitution C A missense_variant L1627I 4879C>A ESCA-CN 13 35770180 35770180 single base substitution C T missense_variant L1700F 5098C>T ESCA-CN 13 35770180 35770180 single base substitution C T missense_variant L1703F 5107C>T ESCA-CN 13 35864430 35864430 insertion of <=200bp - T intron_variant ESCA-CN 13 35923146 35923146 single base substitution A C intron_variant ESCA-CN 13 35926338 35926338 single base substitution G C missense_variant K2016N 6048G>C ESCA-CN 13 35926338 35926338 single base substitution G C missense_variant K2019N 6057G>C ESCA-CN 13 36046669 36046669 single base substitution C T missense_variant T2191M 6572C>T ESCA-CN 13 36046669 36046669 single base substitution C T missense_variant T2194M 6581C>T ESCA-CN 13 36046669 36046669 single base substitution C T upstream_gene_variant ESCA-CN 13 36049984 36049984 single base substitution C T intron_variant ESCA-CN 13 36049984 36049984 single base substitution C T upstream_gene_variant ESCA-CN 13 36050188 36050188 single base substitution T G intron_variant ESCA-CN 13 36050188 36050188 single base substitution T G upstream_gene_variant ESCA-CN 13 36225976 36225976 single base substitution A G synonymous_variant Q223Q 669A>G ESCA-CN 13 36225976 36225976 single base substitution A G synonymous_variant Q2642Q 7926A>G ESCA-CN 13 36225976 36225976 single base substitution A G synonymous_variant Q2645Q 7935A>G ESCA-CN 13 36225976 36225976 single base substitution A G synonymous_variant Q438Q 1314A>G ESCA-CN 13 36239384 36239384 single base substitution G C intron_variant ESCA-CN 13 36246296 36246296 single base substitution A C 3_prime_UTR_variant ESCA-CN 13 36246296 36246296 single base substitution A C downstream_gene_variant ESCA-CN 13 36246296 36246296 single base substitution A C intron_variant GBM-US 13 35685025 35685025 single base substitution G C missense_variant G638R 1912G>C GBM-US 13 35730325 35730325 single base substitution A C missense_variant N878T 2633A>C GBM-US 13 35883701 35883701 single base substitution G C missense_variant A1956P 5866G>C GBM-US 13 35883701 35883701 single base substitution G C missense_variant A1959P 5875G>C GBM-US 13 36124652 36124652 single base substitution G A missense_variant M2205I 6615G>A GBM-US 13 36124652 36124652 single base substitution G A missense_variant M2208I 6624G>A GBM-US 13 36124652 36124652 single base substitution G A start_lost M1I 3G>A GBM-US 13 36202290 36202290 single base substitution G A missense_variant G2505R 7513G>A GBM-US 13 36202290 36202290 single base substitution G A missense_variant G2508R 7522G>A GBM-US 13 36202290 36202290 single base substitution G A missense_variant G301R 901G>A GBM-US 13 36202290 36202290 single base substitution G A missense_variant G65R 193G>A KIRC-US 13 35738588 35738588 single base substitution A G missense_variant N1392S 4175A>G KIRC-US 13 35747666 35747668 deletion of <=200bp TCT - inframe_deletion S1494 KIRC-US 13 35747666 35747668 deletion of <=200bp TCT - inframe_deletion S1497 KIRC-US 13 35758117 35758117 single base substitution G T synonymous_variant V1609V 4827G>T KIRC-US 13 35758117 35758117 single base substitution G T synonymous_variant V1612V 4836G>T KIRC-US 13 35770236 35770236 deletion of <=200bp T - frameshift_variant N1718 KIRC-US 13 35770236 35770236 deletion of <=200bp T - frameshift_variant N1721 KIRC-US 13 36046544 36046544 single base substitution G T synonymous_variant V2149V 6447G>T KIRC-US 13 36046544 36046544 single base substitution G T synonymous_variant V2152V 6456G>T KIRC-US 13 36046544 36046544 single base substitution G T upstream_gene_variant KIRC-US 13 36049373 36049373 single base substitution G A intron_variant KIRC-US 13 36049373 36049373 single base substitution G A upstream_gene_variant KIRC-US 13 36049398 36049398 single base substitution T A intron_variant KIRC-US 13 36049398 36049398 single base substitution T A upstream_gene_variant KIRC-US 13 36220480 36220480 single base substitution C T missense_variant H146Y 436C>T KIRC-US 13 36220480 36220480 single base substitution C T missense_variant H2565Y 7693C>T KIRC-US 13 36220480 36220480 single base substitution C T missense_variant H2568Y 7702C>T KIRC-US 13 36220480 36220480 single base substitution C T missense_variant H361Y 1081C>T KIRP-US 13 35731352 35731352 single base substitution A G missense_variant Y930C 2789A>G KIRP-US 13 35733740 35733740 single base substitution A C synonymous_variant T1144T 3432A>C KIRP-US 13 35758158 35758158 single base substitution T G missense_variant F1623C 4868T>G KIRP-US 13 35758158 35758158 single base substitution T G missense_variant F1626C 4877T>G KIRP-US 13 35770159 35770159 single base substitution G T missense_variant G1693C 5077G>T KIRP-US 13 35770159 35770159 single base substitution G T missense_variant G1696C 5086G>T LAML-KR 13 35530547 35530547 single base substitution C T intron_variant LAML-KR 13 35579369 35579369 single base substitution C T intron_variant LAML-KR 13 35618968 35618968 single base substitution G T intron_variant LAML-KR 13 35662998 35662998 single base substitution G T intron_variant LAML-KR 13 35663548 35663548 single base substitution C G intron_variant LAML-KR 13 35664213 35664213 single base substitution A T intron_variant LAML-KR 13 35713216 35713216 single base substitution G T intron_variant LAML-KR 13 35716234 35716234 single base substitution C G intron_variant LAML-KR 13 35731324 35731324 single base substitution C T missense_variant R921W 2761C>T LAML-KR 13 35745735 35745735 single base substitution A T intron_variant LAML-KR 13 35963296 35963296 single base substitution A G intron_variant LAML-KR 13 36197027 36197027 single base substitution C A intron_variant LGG-US 13 36049234 36049234 single base substitution C G intron_variant LGG-US 13 36049234 36049234 single base substitution C G upstream_gene_variant LICA-CN 13 35632992 35632992 single base substitution G A missense_variant G411R 1231G>A LICA-CN 13 36049953 36049953 single base substitution C A intron_variant LICA-CN 13 36049953 36049953 single base substitution C A upstream_gene_variant LICA-CN 13 36125159 36125159 single base substitution C A missense_variant P2263T 6787C>A LICA-CN 13 36125159 36125159 single base substitution C A missense_variant P2266T 6796C>A LICA-CN 13 36125159 36125159 single base substitution C A missense_variant P59T 175C>A LICA-CN 13 36129133 36129133 single base substitution A T synonymous_variant S2269S 6807A>T LICA-CN 13 36129133 36129133 single base substitution A T synonymous_variant S2272S 6816A>T LICA-CN 13 36129133 36129133 single base substitution A T synonymous_variant S65S 195A>T LICA-CN 13 36220459 36220459 single base substitution C A missense_variant P139T 415C>A LICA-CN 13 36220459 36220459 single base substitution C A missense_variant P2558T 7672C>A LICA-CN 13 36220459 36220459 single base substitution C A missense_variant P2561T 7681C>A LICA-CN 13 36220459 36220459 single base substitution C A missense_variant P354T 1060C>A LICA-CN 13 36229817 36229817 single base substitution C G missense_variant R2741G 8221C>G LICA-CN 13 36229817 36229817 single base substitution C G missense_variant R2744G 8230C>G LICA-CN 13 36229817 36229817 single base substitution C G missense_variant R322G 964C>G LICA-CN 13 36229817 36229817 single base substitution C G missense_variant R537G 1609C>G LICA-FR 13 35516996 35516996 single base substitution G T missense_variant E13D 39G>T LICA-FR 13 35546317 35546317 single base substitution C A intron_variant LICA-FR 13 35547982 35547982 single base substitution G T intron_variant LICA-FR 13 35553013 35553013 single base substitution C G intron_variant LICA-FR 13 35566337 35566337 single base substitution G A intron_variant LICA-FR 13 35587902 35587902 single base substitution T G intron_variant LICA-FR 13 35595695 35595695 single base substitution G C intron_variant LICA-FR 13 35604368 35604368 single base substitution A G intron_variant LICA-FR 13 35611444 35611444 single base substitution A T intron_variant LICA-FR 13 35615270 35615270 single base substitution G A synonymous_variant L165L 495G>A LICA-FR 13 35619167 35619167 single base substitution G A missense_variant G204R 610G>A LICA-FR 13 35629955 35629955 single base substitution G A intron_variant LICA-FR 13 35633898 35633898 single base substitution C T intron_variant LICA-FR 13 35633900 35633900 single base substitution G C intron_variant LICA-FR 13 35650944 35650944 single base substitution A G intron_variant LICA-FR 13 35651188 35651188 single base substitution C T intron_variant LICA-FR 13 35655009 35655009 single base substitution T C intron_variant LICA-FR 13 35656674 35656674 single base substitution G C intron_variant LICA-FR 13 35659775 35659775 single base substitution C A intron_variant LICA-FR 13 35663453 35663453 single base substitution T C intron_variant LICA-FR 13 35666044 35666044 single base substitution A G intron_variant LICA-FR 13 35668239 35668239 single base substitution T C intron_variant LICA-FR 13 35671778 35671778 single base substitution A C intron_variant LICA-FR 13 35682055 35682055 single base substitution C A intron_variant LICA-FR 13 35690647 35690647 single base substitution T C intron_variant LICA-FR 13 35691191 35691191 single base substitution T A intron_variant LICA-FR 13 35694946 35694946 single base substitution G C intron_variant LICA-FR 13 35695947 35695947 single base substitution A C intron_variant LICA-FR 13 35696696 35696696 single base substitution G A intron_variant LICA-FR 13 35703932 35703932 single base substitution A G intron_variant LICA-FR 13 35704945 35704945 single base substitution A C intron_variant LICA-FR 13 35709824 35709824 single base substitution T C intron_variant LICA-FR 13 35713195 35713195 insertion of <=200bp - T intron_variant LICA-FR 13 35716432 35716432 single base substitution A C missense_variant H788P 2363A>C LICA-FR 13 35731242 35731242 single base substitution G A synonymous_variant Q893Q 2679G>A LICA-FR 13 35733978 35733978 single base substitution G A missense_variant D1224N 3670G>A LICA-FR 13 35735947 35735947 single base substitution C T stop_gained R1308* 3922C>T LICA-FR 13 35737396 35737396 single base substitution A G intron_variant LICA-FR 13 35739994 35739994 single base substitution G T intron_variant LICA-FR 13 35747396 35747396 single base substitution T C intron_variant LICA-FR 13 35750002 35750002 single base substitution G T intron_variant LICA-FR 13 35751220 35751220 single base substitution G A missense_variant A1545T 4633G>A LICA-FR 13 35751220 35751220 single base substitution G A missense_variant A1548T 4642G>A LICA-FR 13 35756303 35756303 single base substitution T A intron_variant LICA-FR 13 35758500 35758500 single base substitution G A intron_variant LICA-FR 13 35760738 35760738 single base substitution A T intron_variant LICA-FR 13 35765997 35765997 single base substitution T C intron_variant LICA-FR 13 35768664 35768664 single base substitution A G intron_variant LICA-FR 13 35777248 35777248 single base substitution T A intron_variant LICA-FR 13 35781449 35781449 insertion of <=200bp - T intron_variant LICA-FR 13 35787795 35787795 single base substitution A T intron_variant LICA-FR 13 35797412 35797412 single base substitution G T intron_variant LICA-FR 13 35802479 35802479 single base substitution C A intron_variant LICA-FR 13 35806727 35806727 single base substitution G T missense_variant G1913V 5738G>T LICA-FR 13 35806727 35806727 single base substitution G T missense_variant G1916V 5747G>T LICA-FR 13 35817156 35817156 single base substitution T C intron_variant LICA-FR 13 35817633 35817633 single base substitution A G intron_variant LICA-FR 13 35821548 35821548 single base substitution C T intron_variant LICA-FR 13 35832308 35832308 deletion of <=200bp T - intron_variant LICA-FR 13 35832969 35832969 single base substitution T A intron_variant LICA-FR 13 35848248 35848248 single base substitution T G intron_variant LICA-FR 13 35854713 35854713 single base substitution G T intron_variant LICA-FR 13 35862352 35862352 single base substitution T C intron_variant LICA-FR 13 35863705 35863705 single base substitution T G intron_variant LICA-FR 13 35872479 35872479 single base substitution G C intron_variant LICA-FR 13 35875183 35875183 single base substitution G A intron_variant LICA-FR 13 35883229 35883229 single base substitution T C intron_variant LICA-FR 13 35885018 35885018 single base substitution G A intron_variant LICA-FR 13 35885019 35885019 single base substitution G T intron_variant LICA-FR 13 35892381 35892381 single base substitution A G intron_variant LICA-FR 13 35902259 35902259 single base substitution T C intron_variant LICA-FR 13 35921214 35921214 single base substitution T C intron_variant LICA-FR 13 35921645 35921645 single base substitution T A intron_variant LICA-FR 13 35926393 35926393 single base substitution C G missense_variant Q2035E 6103C>G LICA-FR 13 35926393 35926393 single base substitution C G missense_variant Q2038E 6112C>G LICA-FR 13 35927142 35927142 single base substitution C T intron_variant LICA-FR 13 35930724 35930724 single base substitution C A intron_variant LICA-FR 13 35933237 35933237 single base substitution C A intron_variant LICA-FR 13 35957594 35957594 single base substitution C A intron_variant LICA-FR 13 35964108 35964108 insertion of <=200bp - GTGTGTGTGTGT intron_variant LICA-FR 13 35972797 35972797 single base substitution T G intron_variant LICA-FR 13 35973791 35973791 single base substitution A T intron_variant LICA-FR 13 35977769 35977769 single base substitution G T intron_variant LICA-FR 13 36002797 36002797 single base substitution T A intron_variant LICA-FR 13 36003938 36003938 insertion of <=200bp - GTGT intron_variant LICA-FR 13 36010662 36010662 single base substitution A T intron_variant LICA-FR 13 36028881 36028881 single base substitution C T intron_variant LICA-FR 13 36032035 36032035 single base substitution C G intron_variant LICA-FR 13 36046601 36046601 single base substitution C T synonymous_variant L2168L 6504C>T LICA-FR 13 36046601 36046601 single base substitution C T synonymous_variant L2171L 6513C>T LICA-FR 13 36046601 36046601 single base substitution C T upstream_gene_variant LICA-FR 13 36049230 36049230 single base substitution A T intron_variant LICA-FR 13 36049230 36049230 single base substitution A T upstream_gene_variant LICA-FR 13 36049811 36049811 single base substitution G T intron_variant LICA-FR 13 36049811 36049811 single base substitution G T upstream_gene_variant LICA-FR 13 36050763 36050763 single base substitution T C intron_variant LICA-FR 13 36050763 36050763 single base substitution T C upstream_gene_variant LICA-FR 13 36058012 36058012 single base substitution A G intron_variant LICA-FR 13 36058389 36058389 single base substitution G T intron_variant LICA-FR 13 36063000 36063000 single base substitution T C intron_variant LICA-FR 13 36068963 36068963 single base substitution A G intron_variant LICA-FR 13 36092844 36092844 single base substitution A G intron_variant LICA-FR 13 36095978 36095978 single base substitution C T intron_variant LICA-FR 13 36097124 36097124 single base substitution C T intron_variant LICA-FR 13 36098637 36098637 single base substitution A T intron_variant LICA-FR 13 36104838 36104838 single base substitution C G intron_variant LICA-FR 13 36111418 36111418 single base substitution A G intron_variant LICA-FR 13 36113176 36113176 single base substitution T C intron_variant LICA-FR 13 36127697 36127697 single base substitution T A intron_variant LICA-FR 13 36129171 36129171 single base substitution T C missense_variant M2282T 6845T>C LICA-FR 13 36129171 36129171 single base substitution T C missense_variant M2285T 6854T>C LICA-FR 13 36129171 36129171 single base substitution T C missense_variant M78T 233T>C LICA-FR 13 36141058 36141058 single base substitution T A missense_variant D106E 318T>A LICA-FR 13 36141058 36141058 single base substitution T A missense_variant D2310E 6930T>A LICA-FR 13 36141058 36141058 single base substitution T A missense_variant D2313E 6939T>A LICA-FR 13 36144595 36144595 single base substitution C A intron_variant LICA-FR 13 36147596 36147596 single base substitution T G intron_variant LICA-FR 13 36149810 36149810 single base substitution G C intron_variant LICA-FR 13 36160637 36160637 single base substitution A G intron_variant LICA-FR 13 36161628 36161628 single base substitution T G intron_variant LICA-FR 13 36168789 36168789 single base substitution T C intron_variant LICA-FR 13 36169670 36169670 single base substitution C T intron_variant LICA-FR 13 36176787 36176787 single base substitution C A intron_variant LICA-FR 13 36190808 36190808 single base substitution T C intron_variant LICA-FR 13 36191263 36191263 single base substitution T A intron_variant LICA-FR 13 36208075 36208075 single base substitution C T intron_variant LICA-FR 13 36209129 36209129 single base substitution A T intron_variant LICA-FR 13 36219781 36219781 single base substitution A G intron_variant LICA-FR 13 36225959 36225959 single base substitution G T stop_gained G218* 652G>T LICA-FR 13 36225959 36225959 single base substitution G T stop_gained G2637* 7909G>T LICA-FR 13 36225959 36225959 single base substitution G T stop_gained G2640* 7918G>T LICA-FR 13 36225959 36225959 single base substitution G T stop_gained G433* 1297G>T LICA-FR 13 36229910 36229910 single base substitution C T intron_variant LICA-FR 13 36237341 36237341 single base substitution G C intron_variant LICA-FR 13 36237630 36237630 single base substitution C A intron_variant LICA-FR 13 36241404 36241404 single base substitution T A intron_variant LICA-FR 13 36241404 36241404 single base substitution T A upstream_gene_variant LICA-FR 13 36245259 36245259 single base substitution C G 3_prime_UTR_variant LICA-FR 13 36245259 36245259 single base substitution C G exon_variant LIHC-US 13 35517180 35517180 single base substitution G T missense_variant A75S 223G>T LIHC-US 13 35672500 35672500 single base substitution G T synonymous_variant L546L 1638G>T LIHC-US 13 35692392 35692392 single base substitution C T stop_gained Q704* 2110C>T LIHC-US 13 35692394 35692394 single base substitution G C missense_variant Q704H 2112G>C LIHC-US 13 35729982 35729982 single base substitution T A synonymous_variant I839I 2517T>A LIHC-US 13 35731313 35731313 single base substitution A G missense_variant Y917C 2750A>G LIHC-US 13 35731383 35731383 single base substitution T C synonymous_variant D940D 2820T>C LIHC-US 13 35734090 35734090 single base substitution T G missense_variant I1261S 3782T>G LIHC-US 13 35756573 35756573 single base substitution G A missense_variant R1577H 4730G>A LIHC-US 13 35756573 35756573 single base substitution G A missense_variant R1580H 4739G>A LIHC-US 13 35758164 35758164 single base substitution C A missense_variant A1625D 4874C>A LIHC-US 13 35758164 35758164 single base substitution C A missense_variant A1628D 4883C>A LIHC-US 13 35806707 35806707 single base substitution C T synonymous_variant F1906F 5718C>T LIHC-US 13 35806707 35806707 single base substitution C T synonymous_variant F1909F 5727C>T LIHC-US 13 36046548 36046548 single base substitution C T missense_variant L2151F 6451C>T LIHC-US 13 36046548 36046548 single base substitution C T missense_variant L2154F 6460C>T LIHC-US 13 36046548 36046548 single base substitution C T upstream_gene_variant LIHC-US 13 36046654 36046654 single base substitution T C missense_variant F2186S 6557T>C LIHC-US 13 36046654 36046654 single base substitution T C missense_variant F2189S 6566T>C LIHC-US 13 36046654 36046654 single base substitution T C upstream_gene_variant LIHC-US 13 36049446 36049446 single base substitution A G intron_variant LIHC-US 13 36049446 36049446 single base substitution A G upstream_gene_variant LIHC-US 13 36049572 36049572 single base substitution G A intron_variant LIHC-US 13 36049572 36049572 single base substitution G A upstream_gene_variant LIHC-US 13 36049699 36049699 single base substitution G T intron_variant LIHC-US 13 36049699 36049699 single base substitution G T upstream_gene_variant LIHC-US 13 36049710 36049710 single base substitution A G intron_variant LIHC-US 13 36049710 36049710 single base substitution A G upstream_gene_variant LIHC-US 13 36049768 36049768 single base substitution T A intron_variant LIHC-US 13 36049768 36049768 single base substitution T A upstream_gene_variant LIHC-US 13 36202217 36202217 single base substitution G T splice_acceptor_variant LIHC-US 13 36229035 36229035 insertion of <=200bp - C frameshift_variant V250V? LIHC-US 13 36229035 36229035 insertion of <=200bp - C frameshift_variant V2669V? LIHC-US 13 36229035 36229035 insertion of <=200bp - C frameshift_variant V2672V? LIHC-US 13 36229035 36229035 insertion of <=200bp - C frameshift_variant V465V? LIHC-US 13 36239245 36239245 single base substitution G A missense_variant V2772I 8314G>A LIHC-US 13 36239245 36239245 single base substitution G A missense_variant V2775I 8323G>A LIHC-US 13 36239245 36239245 single base substitution G A missense_variant V353I 1057G>A LIHC-US 13 36239245 36239245 single base substitution G A missense_variant V568I 1702G>A LINC-JP 13 35514131 35514131 single base substitution G A upstream_gene_variant LINC-JP 13 35517041 35517041 single base substitution C T synonymous_variant G28G 84C>T LINC-JP 13 35517914 35517914 single base substitution G C intron_variant LINC-JP 13 35518121 35518121 single base substitution G C intron_variant LINC-JP 13 35521694 35521694 single base substitution C T intron_variant LINC-JP 13 35535688 35535688 single base substitution T C intron_variant LINC-JP 13 35545074 35545074 single base substitution A G intron_variant LINC-JP 13 35555596 35555596 single base substitution A G intron_variant LINC-JP 13 35566644 35566644 single base substitution C G intron_variant LINC-JP 13 35568100 35568100 single base substitution T A intron_variant LINC-JP 13 35570036 35570036 single base substitution A G intron_variant LINC-JP 13 35589264 35589264 deletion of <=200bp G - intron_variant LINC-JP 13 35592133 35592133 single base substitution C G intron_variant LINC-JP 13 35595718 35595718 single base substitution T C intron_variant LINC-JP 13 35601265 35601265 single base substitution A G intron_variant LINC-JP 13 35601828 35601828 single base substitution C T intron_variant LINC-JP 13 35609253 35609253 single base substitution G T intron_variant LINC-JP 13 35618964 35618964 single base substitution T G intron_variant LINC-JP 13 35620267 35620267 single base substitution G T intron_variant LINC-JP 13 35622449 35622449 single base substitution G T intron_variant LINC-JP 13 35622652 35622652 single base substitution C A intron_variant LINC-JP 13 35622982 35622982 single base substitution A G intron_variant LINC-JP 13 35624502 35624502 single base substitution T C synonymous_variant H314H 942T>C LINC-JP 13 35633572 35633572 single base substitution C T intron_variant LINC-JP 13 35634321 35634321 single base substitution T A intron_variant LINC-JP 13 35636983 35636983 single base substitution T C intron_variant LINC-JP 13 35643662 35643662 single base substitution A G intron_variant LINC-JP 13 35643662 35643662 single base substitution A G upstream_gene_variant LINC-JP 13 35644272 35644272 single base substitution T A intron_variant LINC-JP 13 35644294 35644294 single base substitution C G intron_variant LINC-JP 13 35652127 35652127 single base substitution T C intron_variant LINC-JP 13 35655877 35655877 single base substitution A G intron_variant LINC-JP 13 35657907 35657907 single base substitution A G intron_variant LINC-JP 13 35658315 35658315 single base substitution G C intron_variant LINC-JP 13 35660484 35660484 single base substitution A G intron_variant LINC-JP 13 35666187 35666187 single base substitution C T intron_variant LINC-JP 13 35668767 35668767 single base substitution T A intron_variant LINC-JP 13 35672486 35672486 single base substitution C A missense_variant Q542K 1624C>A LINC-JP 13 35687275 35687275 single base substitution A G intron_variant LINC-JP 13 35691962 35691962 single base substitution A G intron_variant LINC-JP 13 35692247 35692247 single base substitution A C intron_variant LINC-JP 13 35693317 35693317 single base substitution T G intron_variant LINC-JP 13 35698174 35698174 single base substitution C A intron_variant LINC-JP 13 35709710 35709710 single base substitution A G intron_variant LINC-JP 13 35712953 35712953 single base substitution A T intron_variant LINC-JP 13 35726702 35726702 single base substitution G C intron_variant LINC-JP 13 35728816 35728816 single base substitution A G intron_variant LINC-JP 13 35728918 35728918 single base substitution A G intron_variant LINC-JP 13 35733573 35733573 single base substitution C G missense_variant L1089V 3265C>G LINC-JP 13 35734169 35734169 single base substitution A T missense_variant Q1287H 3861A>T LINC-JP 13 35737556 35737556 single base substitution C T intron_variant LINC-JP 13 35738061 35738061 single base substitution T A intron_variant LINC-JP 13 35746333 35746333 single base substitution T A intron_variant LINC-JP 13 35747723 35747723 single base substitution G T missense_variant A1513S 4537G>T LINC-JP 13 35747723 35747723 single base substitution G T missense_variant A1516S 4546G>T LINC-JP 13 35748680 35748680 single base substitution C G intron_variant LINC-JP 13 35756274 35756274 single base substitution T C intron_variant LINC-JP 13 35770201 35770201 single base substitution G A missense_variant E1707K 5119G>A LINC-JP 13 35770201 35770201 single base substitution G A missense_variant E1710K 5128G>A LINC-JP 13 35770415 35770415 single base substitution C A missense_variant P1778H 5333C>A LINC-JP 13 35770415 35770415 single base substitution C A missense_variant P1781H 5342C>A LINC-JP 13 35781942 35781942 single base substitution C T intron_variant LINC-JP 13 35783147 35783147 single base substitution T A intron_variant LINC-JP 13 35785099 35785099 single base substitution T C intron_variant LINC-JP 13 35790448 35790448 single base substitution A T intron_variant LINC-JP 13 35791547 35791547 single base substitution G A intron_variant LINC-JP 13 35800472 35800472 single base substitution G T intron_variant LINC-JP 13 35801271 35801271 single base substitution G T intron_variant LINC-JP 13 35801836 35801836 single base substitution T C intron_variant LINC-JP 13 35812264 35812264 single base substitution T C intron_variant LINC-JP 13 35817913 35817913 single base substitution G A intron_variant LINC-JP 13 35819247 35819247 single base substitution C A intron_variant LINC-JP 13 35822216 35822216 single base substitution A C intron_variant LINC-JP 13 35822217 35822217 single base substitution C A intron_variant LINC-JP 13 35825811 35825811 single base substitution T A intron_variant LINC-JP 13 35829519 35829519 single base substitution G A intron_variant LINC-JP 13 35836414 35836414 single base substitution T C intron_variant LINC-JP 13 35855677 35855677 single base substitution T C intron_variant LINC-JP 13 35861600 35861600 single base substitution T C intron_variant LINC-JP 13 35871716 35871716 single base substitution A G intron_variant LINC-JP 13 35895718 35895718 single base substitution C T intron_variant LINC-JP 13 35899780 35899780 single base substitution G C intron_variant LINC-JP 13 35907749 35907749 single base substitution G T intron_variant LINC-JP 13 35909524 35909524 single base substitution T C intron_variant LINC-JP 13 35916759 35916759 single base substitution A G intron_variant LINC-JP 13 35917788 35917788 single base substitution C A intron_variant LINC-JP 13 35918088 35918088 single base substitution C A intron_variant LINC-JP 13 35929980 35929980 single base substitution A G intron_variant LINC-JP 13 35932672 35932672 single base substitution T A intron_variant LINC-JP 13 35936049 35936049 single base substitution T C intron_variant LINC-JP 13 35942005 35942005 single base substitution T C intron_variant LINC-JP 13 35961461 35961461 single base substitution A T intron_variant LINC-JP 13 35973718 35973718 single base substitution A G intron_variant LINC-JP 13 35975886 35975886 single base substitution A T intron_variant LINC-JP 13 35981087 35981087 single base substitution T C intron_variant LINC-JP 13 35984116 35984116 single base substitution C T intron_variant LINC-JP 13 35985865 35985865 single base substitution G T intron_variant LINC-JP 13 35992269 35992269 single base substitution G T intron_variant LINC-JP 13 36006077 36006077 single base substitution G T intron_variant LINC-JP 13 36009253 36009253 single base substitution C A intron_variant LINC-JP 13 36014553 36014553 single base substitution A T intron_variant LINC-JP 13 36018023 36018023 single base substitution T G intron_variant LINC-JP 13 36019356 36019356 single base substitution C G intron_variant LINC-JP 13 36023585 36023585 single base substitution C G intron_variant LINC-JP 13 36027915 36027915 single base substitution C T intron_variant LINC-JP 13 36031387 36031387 deletion of <=200bp T - intron_variant LINC-JP 13 36032845 36032845 single base substitution G C intron_variant LINC-JP 13 36033960 36033960 deletion of <=200bp T - intron_variant LINC-JP 13 36040676 36040676 single base substitution C A intron_variant LINC-JP 13 36046444 36046444 single base substitution A G intron_variant LINC-JP 13 36046444 36046444 single base substitution A G upstream_gene_variant LINC-JP 13 36046524 36046524 single base substitution C T intron_variant LINC-JP 13 36046524 36046524 single base substitution C T upstream_gene_variant LINC-JP 13 36046727 36046727 single base substitution T C intron_variant LINC-JP 13 36046727 36046727 single base substitution T C upstream_gene_variant LINC-JP 13 36048948 36048948 single base substitution A T intron_variant LINC-JP 13 36048948 36048948 single base substitution A T upstream_gene_variant LINC-JP 13 36049115 36049115 single base substitution A G intron_variant LINC-JP 13 36049115 36049115 single base substitution A G upstream_gene_variant LINC-JP 13 36049302 36049302 single base substitution T C intron_variant LINC-JP 13 36049302 36049302 single base substitution T C upstream_gene_variant LINC-JP 13 36049382 36049382 single base substitution A G intron_variant LINC-JP 13 36049382 36049382 single base substitution A G upstream_gene_variant LINC-JP 13 36049472 36049472 single base substitution G T intron_variant LINC-JP 13 36049472 36049472 single base substitution G T upstream_gene_variant LINC-JP 13 36050789 36050790 deletion of <=200bp GT - intron_variant LINC-JP 13 36050789 36050790 deletion of <=200bp GT - upstream_gene_variant LINC-JP 13 36050931 36050931 single base substitution G A 5_prime_UTR_variant LINC-JP 13 36050931 36050931 single base substitution G A intron_variant LINC-JP 13 36076466 36076466 single base substitution C A intron_variant LINC-JP 13 36079261 36079261 single base substitution G A intron_variant LINC-JP 13 36083427 36083427 single base substitution C A intron_variant LINC-JP 13 36087386 36087386 single base substitution G A intron_variant LINC-JP 13 36096922 36096922 single base substitution C A intron_variant LINC-JP 13 36101587 36101587 single base substitution G A intron_variant LINC-JP 13 36104303 36104303 single base substitution T A intron_variant LINC-JP 13 36104596 36104596 single base substitution A T intron_variant LINC-JP 13 36104829 36104829 single base substitution A G intron_variant LINC-JP 13 36105382 36105382 single base substitution G C intron_variant LINC-JP 13 36105825 36105825 single base substitution C T intron_variant LINC-JP 13 36125002 36125002 single base substitution T G intron_variant LINC-JP 13 36125195 36125195 single base substitution C T intron_variant LINC-JP 13 36127042 36127042 single base substitution C T intron_variant LINC-JP 13 36129159 36129159 single base substitution A G missense_variant K2278R 6833A>G LINC-JP 13 36129159 36129159 single base substitution A G missense_variant K2281R 6842A>G LINC-JP 13 36129159 36129159 single base substitution A G missense_variant K74R 221A>G LINC-JP 13 36134109 36134109 single base substitution A T intron_variant LINC-JP 13 36139841 36139841 single base substitution C T intron_variant LINC-JP 13 36141556 36141556 single base substitution G A intron_variant LINC-JP 13 36142842 36142842 single base substitution T C intron_variant LINC-JP 13 36143479 36143479 single base substitution A G intron_variant LINC-JP 13 36145892 36145892 single base substitution T A intron_variant LINC-JP 13 36147819 36147819 single base substitution C A intron_variant LINC-JP 13 36148233 36148233 single base substitution T C intron_variant LINC-JP 13 36149747 36149747 single base substitution A G intron_variant LINC-JP 13 36149901 36149901 single base substitution A G intron_variant LINC-JP 13 36150784 36150784 single base substitution T A intron_variant LINC-JP 13 36151423 36151423 single base substitution C T intron_variant LINC-JP 13 36153640 36153640 single base substitution T C intron_variant LINC-JP 13 36159119 36159119 single base substitution A G intron_variant LINC-JP 13 36163074 36163074 single base substitution G T intron_variant LINC-JP 13 36163074 36163074 single base substitution G T upstream_gene_variant LINC-JP 13 36167641 36167641 insertion of <=200bp - T intron_variant LINC-JP 13 36167820 36167820 single base substitution T C intron_variant LINC-JP 13 36175452 36175452 single base substitution T A intron_variant LINC-JP 13 36177879 36177879 single base substitution A G intron_variant LINC-JP 13 36178228 36178228 single base substitution T C intron_variant LINC-JP 13 36178372 36178372 single base substitution C T intron_variant LINC-JP 13 36180582 36180582 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 13 36180582 36180582 single base substitution A G missense_variant Y232C 695A>G LINC-JP 13 36180582 36180582 single base substitution A G missense_variant Y2436C 7307A>G LINC-JP 13 36180582 36180582 single base substitution A G missense_variant Y2439C 7316A>G LINC-JP 13 36180667 36180667 single base substitution T C synonymous_variant L2464L 7392T>C LINC-JP 13 36180667 36180667 single base substitution T C synonymous_variant L2467L 7401T>C LINC-JP 13 36180667 36180667 single base substitution T C synonymous_variant L24L 72T>C LINC-JP 13 36180667 36180667 single base substitution T C synonymous_variant L260L 780T>C LINC-JP 13 36180698 36180698 single base substitution G T missense_variant V2475L 7423G>T LINC-JP 13 36180698 36180698 single base substitution G T missense_variant V2478L 7432G>T LINC-JP 13 36180698 36180698 single base substitution G T missense_variant V271L 811G>T LINC-JP 13 36180698 36180698 single base substitution G T missense_variant V35L 103G>T LINC-JP 13 36183698 36183698 single base substitution T A intron_variant LINC-JP 13 36184512 36184512 single base substitution G A intron_variant LINC-JP 13 36192422 36192422 single base substitution A G intron_variant LINC-JP 13 36198767 36198767 single base substitution T C intron_variant LINC-JP 13 36200342 36200342 single base substitution A G intron_variant LINC-JP 13 36218345 36218345 single base substitution G T intron_variant LINC-JP 13 36220032 36220032 deletion of <=200bp C - frameshift_variant D105 LINC-JP 13 36220032 36220032 deletion of <=200bp C - intron_variant LINC-JP 13 36223847 36223847 single base substitution T C missense_variant I166T 497T>C LINC-JP 13 36223847 36223847 single base substitution T C missense_variant I2585T 7754T>C LINC-JP 13 36223847 36223847 single base substitution T C missense_variant I2588T 7763T>C LINC-JP 13 36223847 36223847 single base substitution T C missense_variant I381T 1142T>C LINC-JP 13 36223953 36223953 single base substitution C T synonymous_variant L201L 603C>T LINC-JP 13 36223953 36223953 single base substitution C T synonymous_variant L2620L 7860C>T LINC-JP 13 36223953 36223953 single base substitution C T synonymous_variant L2623L 7869C>T LINC-JP 13 36223953 36223953 single base substitution C T synonymous_variant L416L 1248C>T LINC-JP 13 36226940 36226940 single base substitution T G intron_variant LINC-JP 13 36228192 36228192 single base substitution C A intron_variant LINC-JP 13 36229065 36229065 single base substitution T C synonymous_variant C260C 780T>C LINC-JP 13 36229065 36229065 single base substitution T C synonymous_variant C2679C 8037T>C LINC-JP 13 36229065 36229065 single base substitution T C synonymous_variant C2682C 8046T>C LINC-JP 13 36229065 36229065 single base substitution T C synonymous_variant C475C 1425T>C LINC-JP 13 36229759 36229759 single base substitution T C synonymous_variant T2721T 8163T>C LINC-JP 13 36229759 36229759 single base substitution T C synonymous_variant T2724T 8172T>C LINC-JP 13 36229759 36229759 single base substitution T C synonymous_variant T302T 906T>C LINC-JP 13 36229759 36229759 single base substitution T C synonymous_variant T517T 1551T>C LINC-JP 13 36237021 36237021 single base substitution T C intron_variant LINC-JP 13 36239307 36239307 single base substitution T C synonymous_variant V2792V 8376T>C LINC-JP 13 36239307 36239307 single base substitution T C synonymous_variant V2795V 8385T>C LINC-JP 13 36239307 36239307 single base substitution T C synonymous_variant V373V 1119T>C LINC-JP 13 36239307 36239307 single base substitution T C synonymous_variant V588V 1764T>C LINC-JP 13 36242518 36242518 single base substitution G A missense_variant S2868N 8603G>A LINC-JP 13 36242518 36242518 single base substitution G A missense_variant S2871N 8612G>A LINC-JP 13 36242518 36242518 single base substitution G A missense_variant S449N 1346G>A LINC-JP 13 36242518 36242518 single base substitution G A missense_variant S664N 1991G>A LINC-JP 13 36242518 36242518 single base substitution G A upstream_gene_variant LINC-JP 13 36242988 36242988 single base substitution T G intron_variant LINC-JP 13 36242988 36242988 single base substitution T G upstream_gene_variant LINC-JP 13 36247531 36247531 single base substitution C A downstream_gene_variant LIRI-JP 13 35511689 35511689 single base substitution T A upstream_gene_variant LIRI-JP 13 35512827 35512827 single base substitution A C upstream_gene_variant LIRI-JP 13 35513260 35513260 single base substitution A G upstream_gene_variant LIRI-JP 13 35514475 35514475 single base substitution C G upstream_gene_variant LIRI-JP 13 35515100 35515100 single base substitution G A upstream_gene_variant LIRI-JP 13 35515254 35515254 single base substitution T C upstream_gene_variant LIRI-JP 13 35515255 35515255 single base substitution A G upstream_gene_variant LIRI-JP 13 35515565 35515568 deletion of <=200bp TAGA - upstream_gene_variant LIRI-JP 13 35517270 35517270 single base substitution C T intron_variant LIRI-JP 13 35517520 35517520 single base substitution A G intron_variant LIRI-JP 13 35517653 35517653 single base substitution C T intron_variant LIRI-JP 13 35518318 35518318 single base substitution G T intron_variant LIRI-JP 13 35520314 35520314 single base substitution A G intron_variant LIRI-JP 13 35520866 35520866 single base substitution C A intron_variant LIRI-JP 13 35520899 35520899 single base substitution T C intron_variant LIRI-JP 13 35521797 35521797 single base substitution A G intron_variant LIRI-JP 13 35522246 35522246 single base substitution A C intron_variant LIRI-JP 13 35522305 35522305 single base substitution G T intron_variant LIRI-JP 13 35522746 35522746 single base substitution T C intron_variant LIRI-JP 13 35522984 35522984 single base substitution A G intron_variant LIRI-JP 13 35523889 35523889 single base substitution T C intron_variant LIRI-JP 13 35524309 35524309 single base substitution G T intron_variant LIRI-JP 13 35524479 35524479 single base substitution A T intron_variant LIRI-JP 13 35526234 35526234 single base substitution G C intron_variant LIRI-JP 13 35527514 35527514 single base substitution A G intron_variant LIRI-JP 13 35528009 35528009 single base substitution A G intron_variant LIRI-JP 13 35528221 35528221 single base substitution T C intron_variant LIRI-JP 13 35529155 35529155 single base substitution A G intron_variant LIRI-JP 13 35529402 35529402 single base substitution A G intron_variant LIRI-JP 13 35532218 35532218 single base substitution T C intron_variant LIRI-JP 13 35532741 35532741 single base substitution T A intron_variant LIRI-JP 13 35533462 35533462 single base substitution G T intron_variant LIRI-JP 13 35533899 35533899 single base substitution C G intron_variant LIRI-JP 13 35534098 35534098 single base substitution A G intron_variant LIRI-JP 13 35534624 35534624 single base substitution G A intron_variant LIRI-JP 13 35534660 35534660 single base substitution C A intron_variant LIRI-JP 13 35534674 35534674 single base substitution C A intron_variant LIRI-JP 13 35536408 35536408 single base substitution C A intron_variant LIRI-JP 13 35536724 35536724 single base substitution G C intron_variant LIRI-JP 13 35537317 35537317 single base substitution T G intron_variant LIRI-JP 13 35538504 35538504 single base substitution C T intron_variant LIRI-JP 13 35538670 35538670 single base substitution T C intron_variant LIRI-JP 13 35538838 35538838 single base substitution T C intron_variant LIRI-JP 13 35539138 35539138 single base substitution G T intron_variant LIRI-JP 13 35540119 35540119 single base substitution A G intron_variant LIRI-JP 13 35540229 35540229 single base substitution T G intron_variant LIRI-JP 13 35540402 35540402 single base substitution G A intron_variant LIRI-JP 13 35540416 35540416 single base substitution T A intron_variant LIRI-JP 13 35540417 35540417 single base substitution C A intron_variant LIRI-JP 13 35540862 35540862 single base substitution C A intron_variant LIRI-JP 13 35540989 35540989 single base substitution G T intron_variant LIRI-JP 13 35541201 35541201 single base substitution G A intron_variant LIRI-JP 13 35541947 35541947 single base substitution A C intron_variant LIRI-JP 13 35543582 35543582 single base substitution A T intron_variant LIRI-JP 13 35544480 35544480 single base substitution A G intron_variant LIRI-JP 13 35545149 35545149 single base substitution A G intron_variant LIRI-JP 13 35547497 35547497 single base substitution G T intron_variant LIRI-JP 13 35549619 35549619 single base substitution A G intron_variant LIRI-JP 13 35550465 35550465 single base substitution A G intron_variant LIRI-JP 13 35550939 35550939 single base substitution G A intron_variant LIRI-JP 13 35553816 35553816 single base substitution T C intron_variant LIRI-JP 13 35555963 35555963 single base substitution T C intron_variant LIRI-JP 13 35556757 35556757 single base substitution A T intron_variant LIRI-JP 13 35556762 35556762 single base substitution G T intron_variant LIRI-JP 13 35559438 35559438 single base substitution T C intron_variant LIRI-JP 13 35559722 35559722 single base substitution T A intron_variant LIRI-JP 13 35559728 35559728 single base substitution T C intron_variant LIRI-JP 13 35560413 35560413 single base substitution C T intron_variant LIRI-JP 13 35561242 35561242 single base substitution G T intron_variant LIRI-JP 13 35561515 35561515 single base substitution G A intron_variant LIRI-JP 13 35562128 35562128 single base substitution T C intron_variant LIRI-JP 13 35562799 35562799 single base substitution G T intron_variant LIRI-JP 13 35562989 35562989 single base substitution C T intron_variant LIRI-JP 13 35563467 35563467 single base substitution T C intron_variant LIRI-JP 13 35566843 35566843 single base substitution T C intron_variant LIRI-JP 13 35567169 35567169 single base substitution T A intron_variant LIRI-JP 13 35567180 35567180 single base substitution T C intron_variant LIRI-JP 13 35568170 35568170 single base substitution A G intron_variant LIRI-JP 13 35568470 35568470 single base substitution C G intron_variant LIRI-JP 13 35568877 35568877 single base substitution G A intron_variant LIRI-JP 13 35569066 35569066 single base substitution G A intron_variant LIRI-JP 13 35569888 35569888 single base substitution C T intron_variant LIRI-JP 13 35570686 35570686 single base substitution T C intron_variant LIRI-JP 13 35572515 35572515 single base substitution G C intron_variant LIRI-JP 13 35572788 35572788 single base substitution G T intron_variant LIRI-JP 13 35573327 35573327 deletion of <=200bp A - intron_variant LIRI-JP 13 35574562 35574562 single base substitution G C intron_variant LIRI-JP 13 35575032 35575032 single base substitution T A intron_variant LIRI-JP 13 35578247 35578247 single base substitution G T intron_variant LIRI-JP 13 35579244 35579244 single base substitution C G intron_variant LIRI-JP 13 35579508 35579508 single base substitution C T intron_variant LIRI-JP 13 35579709 35579709 single base substitution A G intron_variant LIRI-JP 13 35579777 35579777 single base substitution A G intron_variant LIRI-JP 13 35581164 35581164 single base substitution A G intron_variant LIRI-JP 13 35581194 35581194 single base substitution T C intron_variant LIRI-JP 13 35581235 35581235 single base substitution A G intron_variant LIRI-JP 13 35582405 35582405 single base substitution C T intron_variant LIRI-JP 13 35582850 35582850 single base substitution A C intron_variant LIRI-JP 13 35583741 35583741 single base substitution T C intron_variant LIRI-JP 13 35583742 35583742 single base substitution A T intron_variant LIRI-JP 13 35584602 35584602 single base substitution C G intron_variant LIRI-JP 13 35586846 35586846 single base substitution A T intron_variant LIRI-JP 13 35586855 35586855 single base substitution A T intron_variant LIRI-JP 13 35587530 35587530 single base substitution C G intron_variant LIRI-JP 13 35587736 35587736 single base substitution T C intron_variant LIRI-JP 13 35588558 35588558 single base substitution C A intron_variant LIRI-JP 13 35588982 35588982 single base substitution A T intron_variant LIRI-JP 13 35589000 35589000 single base substitution G A intron_variant LIRI-JP 13 35589721 35589721 single base substitution C T intron_variant LIRI-JP 13 35589753 35589753 single base substitution A G intron_variant LIRI-JP 13 35591359 35591359 single base substitution A T intron_variant LIRI-JP 13 35593395 35593395 single base substitution C G intron_variant LIRI-JP 13 35594758 35594758 single base substitution C G intron_variant LIRI-JP 13 35594805 35594805 single base substitution C T intron_variant LIRI-JP 13 35594849 35594849 single base substitution G T intron_variant LIRI-JP 13 35595688 35595688 single base substitution A C intron_variant LIRI-JP 13 35595847 35595847 single base substitution A G intron_variant LIRI-JP 13 35596039 35596039 single base substitution T C intron_variant LIRI-JP 13 35596180 35596180 single base substitution T C intron_variant LIRI-JP 13 35596685 35596685 single base substitution A T intron_variant LIRI-JP 13 35597327 35597327 single base substitution C A intron_variant LIRI-JP 13 35597398 35597398 single base substitution T C intron_variant LIRI-JP 13 35598725 35598725 single base substitution G T intron_variant LIRI-JP 13 35599517 35599517 single base substitution A T intron_variant LIRI-JP 13 35600354 35600354 single base substitution A G intron_variant LIRI-JP 13 35601497 35601497 single base substitution A C intron_variant LIRI-JP 13 35601953 35601953 single base substitution A G intron_variant LIRI-JP 13 35602363 35602363 single base substitution G T intron_variant LIRI-JP 13 35602644 35602644 single base substitution G T intron_variant LIRI-JP 13 35602913 35602913 single base substitution C T intron_variant LIRI-JP 13 35603191 35603191 single base substitution T G intron_variant LIRI-JP 13 35604118 35604118 single base substitution G A intron_variant LIRI-JP 13 35604582 35604582 single base substitution C G intron_variant LIRI-JP 13 35604872 35604872 deletion of <=200bp A - intron_variant LIRI-JP 13 35605729 35605729 single base substitution T C intron_variant LIRI-JP 13 35606863 35606863 single base substitution T C intron_variant LIRI-JP 13 35607653 35607653 single base substitution G A intron_variant LIRI-JP 13 35608602 35608602 single base substitution A G intron_variant LIRI-JP 13 35608909 35608909 single base substitution T C intron_variant LIRI-JP 13 35610156 35610156 single base substitution T A intron_variant LIRI-JP 13 35610292 35610292 single base substitution T A intron_variant LIRI-JP 13 35610665 35610665 single base substitution A C intron_variant LIRI-JP 13 35610737 35610737 single base substitution C A intron_variant LIRI-JP 13 35612924 35612924 single base substitution G A intron_variant LIRI-JP 13 35613326 35613326 single base substitution C T intron_variant LIRI-JP 13 35614061 35614061 single base substitution A G intron_variant LIRI-JP 13 35614209 35614209 single base substitution T C intron_variant LIRI-JP 13 35614298 35614298 single base substitution T G intron_variant LIRI-JP 13 35614610 35614610 single base substitution T A intron_variant LIRI-JP 13 35615991 35615991 single base substitution T C intron_variant LIRI-JP 13 35616156 35616156 single base substitution G C intron_variant LIRI-JP 13 35616539 35616539 single base substitution G A intron_variant LIRI-JP 13 35616812 35616812 single base substitution T A intron_variant LIRI-JP 13 35616887 35616887 single base substitution G A intron_variant LIRI-JP 13 35616941 35616941 single base substitution T C intron_variant LIRI-JP 13 35617788 35617788 single base substitution C T intron_variant LIRI-JP 13 35619131 35619131 single base substitution G A missense_variant V192I 574G>A LIRI-JP 13 35619547 35619547 single base substitution T C intron_variant LIRI-JP 13 35620198 35620198 single base substitution C A intron_variant LIRI-JP 13 35620688 35620688 single base substitution T C intron_variant LIRI-JP 13 35620989 35620989 single base substitution C T intron_variant LIRI-JP 13 35622573 35622573 single base substitution G T intron_variant LIRI-JP 13 35622584 35622584 single base substitution G C intron_variant LIRI-JP 13 35622637 35622637 single base substitution G C intron_variant LIRI-JP 13 35622793 35622793 single base substitution G A missense_variant V273I 817G>A LIRI-JP 13 35622882 35622882 single base substitution T G intron_variant LIRI-JP 13 35624052 35624052 single base substitution G T intron_variant LIRI-JP 13 35624354 35624354 single base substitution G T intron_variant LIRI-JP 13 35624383 35624383 single base substitution A G intron_variant LIRI-JP 13 35626119 35626119 single base substitution A G intron_variant LIRI-JP 13 35626978 35626978 single base substitution T C intron_variant LIRI-JP 13 35627287 35627287 single base substitution G A intron_variant LIRI-JP 13 35628605 35628605 single base substitution T G intron_variant LIRI-JP 13 35630251 35630251 single base substitution T C synonymous_variant H359H 1077T>C LIRI-JP 13 35630577 35630577 single base substitution A G intron_variant LIRI-JP 13 35630717 35630717 single base substitution G T intron_variant LIRI-JP 13 35631366 35631366 deletion of <=200bp C - intron_variant LIRI-JP 13 35631820 35631820 single base substitution T C intron_variant LIRI-JP 13 35633473 35633475 deletion of <=200bp AGT - intron_variant LIRI-JP 13 35633532 35633532 single base substitution T C intron_variant LIRI-JP 13 35634627 35634627 single base substitution T C intron_variant LIRI-JP 13 35635003 35635003 single base substitution A G intron_variant LIRI-JP 13 35640242 35640242 single base substitution C A intron_variant LIRI-JP 13 35640242 35640242 single base substitution C A upstream_gene_variant LIRI-JP 13 35641125 35641125 single base substitution G A intron_variant LIRI-JP 13 35641125 35641125 single base substitution G A upstream_gene_variant LIRI-JP 13 35641621 35641621 single base substitution G T intron_variant LIRI-JP 13 35641621 35641621 single base substitution G T upstream_gene_variant LIRI-JP 13 35641871 35641871 single base substitution T A intron_variant LIRI-JP 13 35641871 35641871 single base substitution T A upstream_gene_variant LIRI-JP 13 35642164 35642164 single base substitution G T intron_variant LIRI-JP 13 35642164 35642164 single base substitution G T upstream_gene_variant LIRI-JP 13 35642331 35642331 single base substitution G C intron_variant LIRI-JP 13 35642331 35642331 single base substitution G C upstream_gene_variant LIRI-JP 13 35644293 35644293 single base substitution T C intron_variant LIRI-JP 13 35644450 35644450 single base substitution T C intron_variant LIRI-JP 13 35644861 35644861 single base substitution G C exon_variant LIRI-JP 13 35644861 35644861 single base substitution G C synonymous_variant V481V 1443G>C LIRI-JP 13 35645733 35645733 single base substitution A G downstream_gene_variant LIRI-JP 13 35645733 35645733 single base substitution A G intron_variant LIRI-JP 13 35645826 35645826 single base substitution T A downstream_gene_variant LIRI-JP 13 35645826 35645826 single base substitution T A intron_variant LIRI-JP 13 35646009 35646009 single base substitution G T downstream_gene_variant LIRI-JP 13 35646009 35646009 single base substitution G T intron_variant LIRI-JP 13 35647424 35647424 single base substitution T C downstream_gene_variant LIRI-JP 13 35647424 35647424 single base substitution T C intron_variant LIRI-JP 13 35647759 35647759 single base substitution C A downstream_gene_variant LIRI-JP 13 35647759 35647759 single base substitution C A intron_variant LIRI-JP 13 35650186 35650186 single base substitution T C intron_variant LIRI-JP 13 35650270 35650270 deletion of <=200bp T - intron_variant LIRI-JP 13 35650614 35650614 single base substitution T C intron_variant LIRI-JP 13 35651556 35651556 single base substitution C G intron_variant LIRI-JP 13 35652772 35652772 single base substitution G A intron_variant LIRI-JP 13 35652988 35652988 single base substitution G T intron_variant LIRI-JP 13 35653397 35653397 single base substitution T G intron_variant LIRI-JP 13 35653584 35653584 single base substitution A G intron_variant LIRI-JP 13 35654918 35654918 single base substitution G C intron_variant LIRI-JP 13 35654921 35654921 single base substitution C G intron_variant LIRI-JP 13 35655974 35655974 single base substitution A G intron_variant LIRI-JP 13 35656822 35656822 single base substitution T C intron_variant LIRI-JP 13 35661416 35661416 single base substitution T A intron_variant LIRI-JP 13 35661862 35661862 single base substitution C G intron_variant LIRI-JP 13 35661973 35661973 single base substitution C A intron_variant LIRI-JP 13 35662538 35662538 single base substitution C A intron_variant LIRI-JP 13 35664651 35664651 single base substitution A G intron_variant LIRI-JP 13 35665145 35665145 single base substitution A G intron_variant LIRI-JP 13 35665398 35665398 single base substitution G T intron_variant LIRI-JP 13 35665835 35665835 single base substitution G A intron_variant LIRI-JP 13 35665906 35665906 single base substitution A G intron_variant LIRI-JP 13 35666433 35666433 single base substitution T A intron_variant LIRI-JP 13 35666434 35666434 single base substitution A G intron_variant LIRI-JP 13 35666722 35666722 single base substitution G T intron_variant LIRI-JP 13 35667739 35667739 single base substitution C T intron_variant LIRI-JP 13 35667910 35667910 single base substitution C T intron_variant LIRI-JP 13 35668746 35668746 single base substitution G A intron_variant LIRI-JP 13 35668985 35668985 single base substitution A G intron_variant LIRI-JP 13 35670018 35670018 single base substitution C T intron_variant LIRI-JP 13 35670228 35670228 single base substitution T C intron_variant LIRI-JP 13 35670786 35670786 single base substitution A G intron_variant LIRI-JP 13 35671021 35671021 single base substitution T C intron_variant LIRI-JP 13 35671310 35671310 single base substitution A C intron_variant LIRI-JP 13 35672722 35672722 single base substitution A G intron_variant LIRI-JP 13 35673314 35673314 single base substitution G A intron_variant LIRI-JP 13 35673378 35673378 single base substitution C G intron_variant LIRI-JP 13 35674126 35674126 single base substitution A C intron_variant LIRI-JP 13 35674386 35674386 single base substitution T C intron_variant LIRI-JP 13 35674554 35674554 single base substitution G A intron_variant LIRI-JP 13 35674887 35674887 single base substitution T C intron_variant LIRI-JP 13 35675342 35675342 single base substitution T C intron_variant LIRI-JP 13 35676063 35676063 single base substitution A G intron_variant LIRI-JP 13 35676472 35676472 single base substitution C A intron_variant LIRI-JP 13 35677120 35677120 single base substitution C G intron_variant LIRI-JP 13 35677265 35677265 single base substitution A C intron_variant LIRI-JP 13 35678094 35678094 single base substitution G C intron_variant LIRI-JP 13 35678641 35678641 single base substitution A G intron_variant LIRI-JP 13 35678972 35678972 single base substitution G A intron_variant LIRI-JP 13 35679610 35679610 single base substitution A G intron_variant LIRI-JP 13 35680308 35680308 single base substitution T C intron_variant LIRI-JP 13 35680527 35680527 single base substitution C A intron_variant LIRI-JP 13 35680834 35680834 single base substitution A G intron_variant LIRI-JP 13 35681639 35681639 deletion of <=200bp A - intron_variant LIRI-JP 13 35682544 35682544 single base substitution A G intron_variant LIRI-JP 13 35682745 35682745 single base substitution C T intron_variant LIRI-JP 13 35683628 35683628 single base substitution T C intron_variant LIRI-JP 13 35685117 35685117 single base substitution T A splice_donor_variant LIRI-JP 13 35685289 35685289 single base substitution A G intron_variant LIRI-JP 13 35686079 35686079 single base substitution A G intron_variant LIRI-JP 13 35686414 35686414 single base substitution T C intron_variant LIRI-JP 13 35686455 35686455 single base substitution T C intron_variant LIRI-JP 13 35691076 35691076 single base substitution A G intron_variant LIRI-JP 13 35691796 35691796 single base substitution A G intron_variant LIRI-JP 13 35692210 35692210 single base substitution C T intron_variant LIRI-JP 13 35692605 35692605 single base substitution G A missense_variant G746E 2237G>A LIRI-JP 13 35693327 35693327 single base substitution T C intron_variant LIRI-JP 13 35693590 35693590 single base substitution G C intron_variant LIRI-JP 13 35693815 35693815 single base substitution C A intron_variant LIRI-JP 13 35693835 35693835 single base substitution G C intron_variant LIRI-JP 13 35693969 35693969 single base substitution G T intron_variant LIRI-JP 13 35694682 35694682 single base substitution C G intron_variant LIRI-JP 13 35695773 35695773 single base substitution A G intron_variant LIRI-JP 13 35696039 35696039 insertion of <=200bp - A intron_variant LIRI-JP 13 35696093 35696093 single base substitution G A intron_variant LIRI-JP 13 35696157 35696157 single base substitution T C intron_variant LIRI-JP 13 35696564 35696564 single base substitution G A intron_variant LIRI-JP 13 35697831 35697831 single base substitution G A intron_variant LIRI-JP 13 35697872 35697872 single base substitution A C intron_variant LIRI-JP 13 35697903 35697903 single base substitution T A intron_variant LIRI-JP 13 35699168 35699168 single base substitution C T intron_variant LIRI-JP 13 35699705 35699705 single base substitution T C intron_variant LIRI-JP 13 35700184 35700184 single base substitution C T intron_variant LIRI-JP 13 35701465 35701465 single base substitution C A intron_variant LIRI-JP 13 35701804 35701804 single base substitution T C intron_variant LIRI-JP 13 35703211 35703211 single base substitution G T intron_variant LIRI-JP 13 35703527 35703527 single base substitution A G intron_variant LIRI-JP 13 35705351 35705351 single base substitution A G intron_variant LIRI-JP 13 35706457 35706457 single base substitution G A intron_variant LIRI-JP 13 35707374 35707374 single base substitution C T intron_variant LIRI-JP 13 35707730 35707730 single base substitution A T intron_variant LIRI-JP 13 35709065 35709065 single base substitution T C intron_variant LIRI-JP 13 35709825 35709825 single base substitution C A intron_variant LIRI-JP 13 35709841 35709841 single base substitution C G intron_variant LIRI-JP 13 35710632 35710632 single base substitution A G intron_variant LIRI-JP 13 35710748 35710748 single base substitution G A intron_variant LIRI-JP 13 35711748 35711748 single base substitution C G intron_variant LIRI-JP 13 35711942 35711942 single base substitution A G intron_variant LIRI-JP 13 35712103 35712103 single base substitution A G intron_variant LIRI-JP 13 35712586 35712586 single base substitution A G intron_variant LIRI-JP 13 35712955 35712955 single base substitution A T intron_variant LIRI-JP 13 35713229 35713229 single base substitution A G intron_variant LIRI-JP 13 35713428 35713428 single base substitution C A intron_variant LIRI-JP 13 35713966 35713966 single base substitution A G intron_variant LIRI-JP 13 35715089 35715089 single base substitution G T intron_variant LIRI-JP 13 35716474 35716474 single base substitution C G missense_variant T802R 2405C>G LIRI-JP 13 35716723 35716723 single base substitution G A intron_variant LIRI-JP 13 35718835 35718835 single base substitution C T intron_variant LIRI-JP 13 35719983 35719983 single base substitution T C intron_variant LIRI-JP 13 35720664 35720664 single base substitution C T intron_variant LIRI-JP 13 35721950 35721950 single base substitution G T intron_variant LIRI-JP 13 35722390 35722390 single base substitution G T intron_variant LIRI-JP 13 35723289 35723289 single base substitution T A intron_variant LIRI-JP 13 35724077 35724077 single base substitution C T intron_variant LIRI-JP 13 35724839 35724839 single base substitution C A intron_variant LIRI-JP 13 35725481 35725481 single base substitution G T intron_variant LIRI-JP 13 35726327 35726327 single base substitution C G intron_variant LIRI-JP 13 35727514 35727514 single base substitution G T intron_variant LIRI-JP 13 35728658 35728658 single base substitution C A intron_variant LIRI-JP 13 35729020 35729020 single base substitution T C intron_variant LIRI-JP 13 35730093 35730093 single base substitution A G intron_variant LIRI-JP 13 35733570 35733570 single base substitution G T missense_variant A1088S 3262G>T LIRI-JP 13 35733702 35733702 single base substitution T C synonymous_variant L1132L 3394T>C LIRI-JP 13 35734550 35734550 single base substitution A T intron_variant LIRI-JP 13 35737056 35737056 single base substitution A C intron_variant LIRI-JP 13 35737222 35737222 single base substitution T C intron_variant LIRI-JP 13 35739752 35739752 single base substitution A T intron_variant LIRI-JP 13 35741971 35741971 single base substitution G T intron_variant LIRI-JP 13 35741972 35741972 single base substitution G T intron_variant LIRI-JP 13 35743156 35743156 single base substitution T C intron_variant LIRI-JP 13 35743465 35743465 single base substitution A G intron_variant LIRI-JP 13 35743533 35743533 single base substitution T C intron_variant LIRI-JP 13 35743908 35743908 single base substitution T G intron_variant LIRI-JP 13 35744185 35744185 single base substitution A G intron_variant LIRI-JP 13 35745396 35745396 single base substitution T C intron_variant LIRI-JP 13 35747761 35747761 single base substitution T C intron_variant LIRI-JP 13 35747799 35747799 single base substitution A G intron_variant LIRI-JP 13 35747804 35747804 single base substitution G T intron_variant LIRI-JP 13 35749392 35749392 single base substitution C A intron_variant LIRI-JP 13 35749475 35749475 single base substitution A G intron_variant LIRI-JP 13 35750443 35750443 single base substitution G T intron_variant LIRI-JP 13 35750444 35750444 single base substitution G T intron_variant LIRI-JP 13 35751180 35751180 single base substitution G A synonymous_variant P1531P 4593G>A LIRI-JP 13 35751180 35751180 single base substitution G A synonymous_variant P1534P 4602G>A LIRI-JP 13 35751327 35751327 single base substitution A G intron_variant LIRI-JP 13 35751868 35751868 deletion of <=200bp A - intron_variant LIRI-JP 13 35752860 35752860 single base substitution T C intron_variant LIRI-JP 13 35753709 35753709 single base substitution T C intron_variant LIRI-JP 13 35753799 35753799 single base substitution C T intron_variant LIRI-JP 13 35754028 35754028 single base substitution A G intron_variant LIRI-JP 13 35754743 35754743 single base substitution G A intron_variant LIRI-JP 13 35755885 35755885 single base substitution G A intron_variant LIRI-JP 13 35755931 35755931 single base substitution T A intron_variant LIRI-JP 13 35755989 35755989 single base substitution T C intron_variant LIRI-JP 13 35756828 35756828 single base substitution T G intron_variant LIRI-JP 13 35756829 35756829 single base substitution A T intron_variant LIRI-JP 13 35758159 35758159 single base substitution C A missense_variant F1623L 4869C>A LIRI-JP 13 35758159 35758159 single base substitution C A missense_variant F1626L 4878C>A LIRI-JP 13 35758160 35758160 single base substitution C A missense_variant L1624I 4870C>A LIRI-JP 13 35758160 35758160 single base substitution C A missense_variant L1627I 4879C>A LIRI-JP 13 35758261 35758261 single base substitution G C intron_variant LIRI-JP 13 35758398 35758398 single base substitution T C intron_variant LIRI-JP 13 35761045 35761045 single base substitution A G intron_variant LIRI-JP 13 35761841 35761841 single base substitution T C intron_variant LIRI-JP 13 35761906 35761906 single base substitution T A intron_variant LIRI-JP 13 35762184 35762184 single base substitution C T intron_variant LIRI-JP 13 35762651 35762651 single base substitution T C intron_variant LIRI-JP 13 35764896 35764896 single base substitution A G intron_variant LIRI-JP 13 35766157 35766157 single base substitution G C intron_variant LIRI-JP 13 35766523 35766523 single base substitution A G intron_variant LIRI-JP 13 35766577 35766577 single base substitution G A intron_variant LIRI-JP 13 35769274 35769274 single base substitution A G intron_variant LIRI-JP 13 35769816 35769816 single base substitution G T intron_variant LIRI-JP 13 35770085 35770085 single base substitution C T missense_variant P1668L 5003C>T LIRI-JP 13 35770085 35770085 single base substitution C T missense_variant P1671L 5012C>T LIRI-JP 13 35770295 35770295 single base substitution T A missense_variant I1738N 5213T>A LIRI-JP 13 35770295 35770295 single base substitution T A missense_variant I1741N 5222T>A LIRI-JP 13 35770698 35770698 single base substitution A G intron_variant LIRI-JP 13 35772206 35772206 single base substitution A G intron_variant LIRI-JP 13 35772389 35772389 single base substitution A G intron_variant LIRI-JP 13 35772787 35772787 single base substitution A G intron_variant LIRI-JP 13 35773075 35773075 single base substitution G A intron_variant LIRI-JP 13 35773214 35773214 single base substitution T G intron_variant LIRI-JP 13 35773836 35773836 single base substitution C G intron_variant LIRI-JP 13 35774290 35774290 single base substitution A G intron_variant LIRI-JP 13 35775265 35775265 single base substitution A G intron_variant LIRI-JP 13 35776720 35776720 single base substitution T C intron_variant LIRI-JP 13 35777185 35777185 single base substitution G T intron_variant LIRI-JP 13 35778469 35778469 single base substitution G C intron_variant LIRI-JP 13 35780662 35780662 single base substitution T A intron_variant LIRI-JP 13 35780682 35780682 single base substitution G A intron_variant LIRI-JP 13 35780687 35780687 single base substitution C T intron_variant LIRI-JP 13 35781720 35781720 single base substitution T C intron_variant LIRI-JP 13 35783585 35783585 single base substitution T C intron_variant LIRI-JP 13 35784233 35784233 single base substitution T G intron_variant LIRI-JP 13 35786209 35786209 single base substitution A G intron_variant LIRI-JP 13 35786592 35786592 single base substitution C T intron_variant LIRI-JP 13 35787074 35787074 single base substitution C A intron_variant LIRI-JP 13 35788771 35788771 single base substitution A G intron_variant LIRI-JP 13 35788928 35788928 single base substitution A T intron_variant LIRI-JP 13 35789457 35789457 single base substitution T C intron_variant LIRI-JP 13 35789460 35789460 single base substitution T C intron_variant LIRI-JP 13 35790349 35790349 single base substitution A T intron_variant LIRI-JP 13 35791175 35791175 single base substitution C G intron_variant LIRI-JP 13 35791337 35791337 single base substitution T C intron_variant LIRI-JP 13 35792196 35792196 single base substitution G T intron_variant LIRI-JP 13 35793771 35793771 single base substitution A G intron_variant LIRI-JP 13 35793886 35793886 single base substitution G A intron_variant LIRI-JP 13 35794233 35794233 single base substitution C T intron_variant LIRI-JP 13 35794922 35794922 single base substitution A G intron_variant LIRI-JP 13 35794981 35794981 single base substitution T C intron_variant LIRI-JP 13 35796142 35796142 single base substitution T C intron_variant LIRI-JP 13 35796161 35796161 single base substitution C A intron_variant LIRI-JP 13 35797571 35797571 single base substitution A T intron_variant LIRI-JP 13 35798559 35798559 single base substitution C T intron_variant LIRI-JP 13 35798982 35798982 single base substitution G A intron_variant LIRI-JP 13 35799389 35799389 single base substitution A T intron_variant LIRI-JP 13 35799390 35799390 single base substitution T A intron_variant LIRI-JP 13 35799435 35799435 single base substitution C T intron_variant LIRI-JP 13 35800123 35800123 single base substitution A G intron_variant LIRI-JP 13 35801214 35801214 single base substitution A G intron_variant LIRI-JP 13 35801245 35801245 single base substitution T C intron_variant LIRI-JP 13 35801976 35801976 single base substitution A C intron_variant LIRI-JP 13 35803999 35803999 single base substitution G T intron_variant LIRI-JP 13 35804062 35804062 single base substitution T C intron_variant LIRI-JP 13 35804628 35804628 single base substitution C A intron_variant LIRI-JP 13 35804644 35804644 single base substitution G T intron_variant LIRI-JP 13 35805858 35805858 single base substitution A G intron_variant LIRI-JP 13 35806767 35806767 single base substitution T C intron_variant LIRI-JP 13 35807399 35807399 single base substitution T C intron_variant LIRI-JP 13 35808225 35808225 single base substitution G T intron_variant LIRI-JP 13 35808776 35808776 single base substitution T A intron_variant LIRI-JP 13 35809043 35809043 single base substitution T A intron_variant LIRI-JP 13 35809045 35809045 single base substitution T C intron_variant LIRI-JP 13 35809149 35809149 single base substitution A G intron_variant LIRI-JP 13 35809162 35809162 single base substitution T C intron_variant LIRI-JP 13 35809677 35809677 single base substitution T C intron_variant LIRI-JP 13 35811380 35811380 single base substitution C G intron_variant LIRI-JP 13 35811976 35811976 single base substitution T C intron_variant LIRI-JP 13 35812186 35812186 single base substitution G A intron_variant LIRI-JP 13 35812353 35812353 single base substitution G A intron_variant LIRI-JP 13 35812679 35812679 single base substitution A T intron_variant LIRI-JP 13 35815665 35815665 single base substitution A G intron_variant LIRI-JP 13 35815683 35815683 single base substitution A C intron_variant LIRI-JP 13 35816357 35816357 single base substitution A T intron_variant LIRI-JP 13 35818080 35818080 single base substitution A G intron_variant LIRI-JP 13 35818973 35818973 single base substitution T G intron_variant LIRI-JP 13 35819526 35819526 single base substitution A T intron_variant LIRI-JP 13 35819933 35819933 single base substitution G T intron_variant LIRI-JP 13 35820137 35820137 single base substitution T C intron_variant LIRI-JP 13 35820781 35820781 single base substitution A T intron_variant LIRI-JP 13 35821450 35821450 single base substitution C A intron_variant LIRI-JP 13 35821691 35821691 single base substitution G T intron_variant LIRI-JP 13 35822503 35822503 single base substitution A G intron_variant LIRI-JP 13 35822549 35822549 single base substitution A G intron_variant LIRI-JP 13 35823572 35823572 single base substitution C T intron_variant LIRI-JP 13 35825258 35825258 single base substitution T C intron_variant LIRI-JP 13 35825440 35825440 single base substitution T A intron_variant LIRI-JP 13 35825851 35825851 deletion of <=200bp G - intron_variant LIRI-JP 13 35827138 35827138 single base substitution A T intron_variant LIRI-JP 13 35827801 35827801 single base substitution T C intron_variant LIRI-JP 13 35828788 35828788 single base substitution A G intron_variant LIRI-JP 13 35829133 35829133 single base substitution C T intron_variant LIRI-JP 13 35829289 35829289 single base substitution T A intron_variant LIRI-JP 13 35829523 35829523 single base substitution G T intron_variant LIRI-JP 13 35830014 35830014 single base substitution T C intron_variant LIRI-JP 13 35831109 35831109 single base substitution G T intron_variant LIRI-JP 13 35831562 35831562 single base substitution C A intron_variant LIRI-JP 13 35831804 35831808 deletion of <=200bp TATAT - intron_variant LIRI-JP 13 35833196 35833196 single base substitution T A intron_variant LIRI-JP 13 35833270 35833270 single base substitution G T intron_variant LIRI-JP 13 35833873 35833873 single base substitution T C intron_variant LIRI-JP 13 35834014 35834014 single base substitution G T intron_variant LIRI-JP 13 35834128 35834128 single base substitution G A intron_variant LIRI-JP 13 35834129 35834129 single base substitution G T intron_variant LIRI-JP 13 35834583 35834583 single base substitution T C intron_variant LIRI-JP 13 35834768 35834768 single base substitution T C intron_variant LIRI-JP 13 35835270 35835270 single base substitution A G intron_variant LIRI-JP 13 35836854 35836854 single base substitution T C intron_variant LIRI-JP 13 35836862 35836862 single base substitution T G intron_variant LIRI-JP 13 35837577 35837577 single base substitution G A intron_variant LIRI-JP 13 35838342 35838342 single base substitution A G intron_variant LIRI-JP 13 35839998 35839998 single base substitution C A intron_variant LIRI-JP 13 35840000 35840000 single base substitution T A intron_variant LIRI-JP 13 35842142 35842142 single base substitution G T intron_variant LIRI-JP 13 35843920 35843920 single base substitution A T intron_variant LIRI-JP 13 35844263 35844263 single base substitution C T intron_variant LIRI-JP 13 35844583 35844583 single base substitution G A intron_variant LIRI-JP 13 35845043 35845043 single base substitution C A intron_variant LIRI-JP 13 35847009 35847009 single base substitution C A intron_variant LIRI-JP 13 35847742 35847742 single base substitution A G intron_variant LIRI-JP 13 35848281 35848281 single base substitution A G intron_variant LIRI-JP 13 35848990 35848990 single base substitution A T intron_variant LIRI-JP 13 35849657 35849657 single base substitution A G intron_variant LIRI-JP 13 35849743 35849743 single base substitution C A intron_variant LIRI-JP 13 35849746 35849746 single base substitution A C intron_variant LIRI-JP 13 35849876 35849876 single base substitution C T intron_variant LIRI-JP 13 35850022 35850022 single base substitution A T intron_variant LIRI-JP 13 35850590 35850590 single base substitution T C intron_variant LIRI-JP 13 35851080 35851080 single base substitution T G intron_variant LIRI-JP 13 35851102 35851102 single base substitution G T intron_variant LIRI-JP 13 35851481 35851481 single base substitution G A intron_variant LIRI-JP 13 35852660 35852660 single base substitution T C intron_variant LIRI-JP 13 35853082 35853082 single base substitution T C intron_variant LIRI-JP 13 35853149 35853149 single base substitution A G intron_variant LIRI-JP 13 35853519 35853519 single base substitution A C intron_variant LIRI-JP 13 35853856 35853856 single base substitution T A intron_variant LIRI-JP 13 35853944 35853944 single base substitution C T intron_variant LIRI-JP 13 35854559 35854559 single base substitution T G intron_variant LIRI-JP 13 35855470 35855470 single base substitution C T intron_variant LIRI-JP 13 35855516 35855516 single base substitution A T intron_variant LIRI-JP 13 35855809 35855809 single base substitution A T intron_variant LIRI-JP 13 35856565 35856565 single base substitution T C intron_variant LIRI-JP 13 35857817 35857817 single base substitution A C intron_variant LIRI-JP 13 35858691 35858691 single base substitution C A intron_variant LIRI-JP 13 35859371 35859371 single base substitution G A intron_variant LIRI-JP 13 35859372 35859372 single base substitution C T intron_variant LIRI-JP 13 35860336 35860336 single base substitution C T intron_variant LIRI-JP 13 35860575 35860575 single base substitution A T intron_variant LIRI-JP 13 35860590 35860590 single base substitution G A intron_variant LIRI-JP 13 35860605 35860605 single base substitution T C intron_variant LIRI-JP 13 35860795 35860795 single base substitution C A intron_variant LIRI-JP 13 35860855 35860855 single base substitution T A intron_variant LIRI-JP 13 35860873 35860873 single base substitution A T intron_variant LIRI-JP 13 35861636 35861636 single base substitution C A intron_variant LIRI-JP 13 35862160 35862160 single base substitution A G intron_variant LIRI-JP 13 35863235 35863235 single base substitution A G intron_variant LIRI-JP 13 35863565 35863565 single base substitution C T intron_variant LIRI-JP 13 35864902 35864902 single base substitution A T intron_variant LIRI-JP 13 35865054 35865054 single base substitution A T intron_variant LIRI-JP 13 35865188 35865188 single base substitution A G intron_variant LIRI-JP 13 35865652 35865652 single base substitution T A intron_variant LIRI-JP 13 35865827 35865827 single base substitution A T intron_variant LIRI-JP 13 35866011 35866011 single base substitution T C intron_variant LIRI-JP 13 35866067 35866067 single base substitution A G intron_variant LIRI-JP 13 35867179 35867179 single base substitution G T intron_variant LIRI-JP 13 35867242 35867242 single base substitution T C intron_variant LIRI-JP 13 35867624 35867624 single base substitution G A intron_variant LIRI-JP 13 35867803 35867803 single base substitution A G intron_variant LIRI-JP 13 35868192 35868192 single base substitution C T intron_variant LIRI-JP 13 35868250 35868250 single base substitution T C intron_variant LIRI-JP 13 35868536 35868536 single base substitution C A intron_variant LIRI-JP 13 35868885 35868885 single base substitution G C intron_variant LIRI-JP 13 35869465 35869465 single base substitution T A intron_variant LIRI-JP 13 35869970 35869970 single base substitution A T intron_variant LIRI-JP 13 35870226 35870226 single base substitution C T intron_variant LIRI-JP 13 35870932 35870932 single base substitution G T intron_variant LIRI-JP 13 35870996 35870998 deletion of <=200bp ATA - intron_variant LIRI-JP 13 35872751 35872751 single base substitution A C intron_variant LIRI-JP 13 35873225 35873225 single base substitution C G intron_variant LIRI-JP 13 35873724 35873724 single base substitution G A intron_variant LIRI-JP 13 35874079 35874086 deletion of <=200bp TAGGACAG - intron_variant LIRI-JP 13 35874430 35874430 single base substitution C T intron_variant LIRI-JP 13 35875373 35875373 single base substitution T A intron_variant LIRI-JP 13 35875731 35875731 single base substitution G T intron_variant LIRI-JP 13 35875819 35875819 single base substitution A G intron_variant LIRI-JP 13 35878011 35878011 single base substitution G C intron_variant LIRI-JP 13 35878455 35878455 single base substitution C A intron_variant LIRI-JP 13 35878554 35878554 single base substitution C T intron_variant LIRI-JP 13 35878824 35878824 single base substitution C A intron_variant LIRI-JP 13 35879093 35879093 single base substitution A G intron_variant LIRI-JP 13 35882095 35882095 single base substitution A G intron_variant LIRI-JP 13 35882296 35882296 single base substitution G A intron_variant LIRI-JP 13 35882846 35882846 single base substitution C A intron_variant LIRI-JP 13 35883472 35883472 single base substitution A G intron_variant LIRI-JP 13 35884709 35884709 single base substitution T A intron_variant LIRI-JP 13 35884805 35884805 single base substitution C A intron_variant LIRI-JP 13 35884868 35884868 single base substitution T C intron_variant LIRI-JP 13 35884975 35884975 single base substitution G A intron_variant LIRI-JP 13 35886078 35886078 single base substitution C G intron_variant LIRI-JP 13 35886991 35886991 single base substitution A T intron_variant LIRI-JP 13 35887290 35887290 single base substitution T A intron_variant LIRI-JP 13 35888208 35888208 single base substitution T C intron_variant LIRI-JP 13 35889036 35889036 single base substitution G T intron_variant LIRI-JP 13 35889237 35889237 single base substitution C T intron_variant LIRI-JP 13 35890102 35890102 single base substitution A T intron_variant LIRI-JP 13 35890589 35890589 single base substitution G C intron_variant LIRI-JP 13 35891110 35891110 single base substitution T A intron_variant LIRI-JP 13 35891295 35891295 single base substitution T C intron_variant LIRI-JP 13 35893027 35893027 single base substitution A G intron_variant LIRI-JP 13 35893317 35893317 single base substitution T A intron_variant LIRI-JP 13 35893483 35893483 single base substitution C A intron_variant LIRI-JP 13 35894027 35894027 single base substitution T C intron_variant LIRI-JP 13 35896394 35896394 single base substitution G T intron_variant LIRI-JP 13 35896414 35896414 single base substitution A C intron_variant LIRI-JP 13 35896897 35896897 single base substitution T C intron_variant LIRI-JP 13 35897897 35897897 single base substitution A G intron_variant LIRI-JP 13 35898228 35898228 single base substitution T G intron_variant LIRI-JP 13 35898720 35898720 single base substitution T C intron_variant LIRI-JP 13 35898961 35898961 single base substitution C A intron_variant LIRI-JP 13 35900479 35900479 single base substitution G T intron_variant LIRI-JP 13 35900676 35900676 single base substitution G T intron_variant LIRI-JP 13 35900836 35900836 single base substitution A G intron_variant LIRI-JP 13 35900853 35900853 single base substitution G A intron_variant LIRI-JP 13 35901373 35901373 single base substitution A C intron_variant LIRI-JP 13 35901867 35901867 single base substitution A T intron_variant LIRI-JP 13 35902376 35902376 single base substitution G T intron_variant LIRI-JP 13 35902377 35902377 single base substitution G T intron_variant LIRI-JP 13 35902634 35902634 single base substitution T C intron_variant LIRI-JP 13 35904138 35904138 single base substitution T C intron_variant LIRI-JP 13 35904227 35904227 single base substitution A G intron_variant LIRI-JP 13 35904973 35904973 single base substitution T A intron_variant LIRI-JP 13 35905304 35905304 single base substitution A G intron_variant LIRI-JP 13 35906338 35906338 single base substitution A G intron_variant LIRI-JP 13 35906540 35906540 single base substitution A G intron_variant LIRI-JP 13 35908725 35908725 single base substitution G T intron_variant LIRI-JP 13 35909083 35909083 single base substitution G T intron_variant LIRI-JP 13 35909917 35909917 single base substitution A C intron_variant LIRI-JP 13 35911970 35911970 single base substitution T C intron_variant LIRI-JP 13 35913200 35913200 single base substitution A G intron_variant LIRI-JP 13 35913276 35913276 single base substitution G T intron_variant LIRI-JP 13 35913277 35913277 single base substitution G T intron_variant LIRI-JP 13 35914266 35914266 single base substitution T G intron_variant LIRI-JP 13 35915149 35915149 single base substitution A T intron_variant LIRI-JP 13 35915354 35915354 single base substitution A T intron_variant LIRI-JP 13 35915378 35915378 single base substitution T G intron_variant LIRI-JP 13 35915429 35915429 single base substitution A T intron_variant LIRI-JP 13 35915524 35915524 single base substitution A G intron_variant LIRI-JP 13 35916817 35916817 single base substitution A G intron_variant LIRI-JP 13 35916899 35916899 single base substitution T C intron_variant LIRI-JP 13 35917343 35917343 single base substitution C T intron_variant LIRI-JP 13 35917349 35917349 single base substitution T A intron_variant LIRI-JP 13 35918583 35918583 single base substitution A G intron_variant LIRI-JP 13 35918650 35918650 single base substitution T C intron_variant LIRI-JP 13 35919132 35919132 single base substitution A T intron_variant LIRI-JP 13 35919330 35919330 single base substitution T C intron_variant LIRI-JP 13 35919576 35919576 single base substitution C T intron_variant LIRI-JP 13 35919625 35919625 single base substitution G A intron_variant LIRI-JP 13 35919719 35919719 single base substitution T C intron_variant LIRI-JP 13 35919879 35919879 single base substitution A T intron_variant LIRI-JP 13 35920473 35920473 single base substitution A T intron_variant LIRI-JP 13 35920627 35920627 single base substitution G T intron_variant LIRI-JP 13 35921636 35921636 single base substitution A T intron_variant LIRI-JP 13 35922939 35922939 single base substitution C A intron_variant LIRI-JP 13 35923319 35923319 single base substitution G T missense_variant R1990I 5969G>T LIRI-JP 13 35923319 35923319 single base substitution G T missense_variant R1993I 5978G>T LIRI-JP 13 35926956 35926956 single base substitution A C intron_variant LIRI-JP 13 35927048 35927048 single base substitution T G intron_variant LIRI-JP 13 35927130 35927130 single base substitution A C intron_variant LIRI-JP 13 35927905 35927905 single base substitution A T intron_variant LIRI-JP 13 35928293 35928293 single base substitution C G intron_variant LIRI-JP 13 35928401 35928401 single base substitution T C intron_variant LIRI-JP 13 35929126 35929126 single base substitution T A intron_variant LIRI-JP 13 35929801 35929801 single base substitution A G intron_variant LIRI-JP 13 35930498 35930498 single base substitution A G intron_variant LIRI-JP 13 35931045 35931045 single base substitution T C intron_variant LIRI-JP 13 35931241 35931241 single base substitution A G intron_variant LIRI-JP 13 35931272 35931272 single base substitution C A intron_variant LIRI-JP 13 35931328 35931328 single base substitution T A intron_variant LIRI-JP 13 35931942 35931942 single base substitution G T intron_variant LIRI-JP 13 35932721 35932721 single base substitution G T intron_variant LIRI-JP 13 35932923 35932923 single base substitution A G intron_variant LIRI-JP 13 35933298 35933298 single base substitution C A intron_variant LIRI-JP 13 35933448 35933448 single base substitution T C intron_variant LIRI-JP 13 35933495 35933495 single base substitution T C intron_variant LIRI-JP 13 35933874 35933874 single base substitution T C intron_variant LIRI-JP 13 35934039 35934039 single base substitution A G intron_variant LIRI-JP 13 35934597 35934597 single base substitution G T intron_variant LIRI-JP 13 35934756 35934756 single base substitution T C intron_variant LIRI-JP 13 35935683 35935683 single base substitution T C intron_variant LIRI-JP 13 35936784 35936784 single base substitution T C intron_variant LIRI-JP 13 35936947 35936947 single base substitution C A intron_variant LIRI-JP 13 35937014 35937014 single base substitution T C intron_variant LIRI-JP 13 35937316 35937316 single base substitution T A intron_variant LIRI-JP 13 35939235 35939235 single base substitution T A intron_variant LIRI-JP 13 35940021 35940021 single base substitution C T intron_variant LIRI-JP 13 35940192 35940192 single base substitution G T intron_variant LIRI-JP 13 35940521 35940521 deletion of <=200bp T - intron_variant LIRI-JP 13 35942532 35942532 single base substitution T C intron_variant LIRI-JP 13 35942533 35942533 single base substitution G T intron_variant LIRI-JP 13 35943081 35943081 single base substitution A G intron_variant LIRI-JP 13 35943085 35943085 single base substitution T C intron_variant LIRI-JP 13 35943731 35943731 single base substitution T A intron_variant LIRI-JP 13 35945265 35945265 single base substitution G A intron_variant LIRI-JP 13 35945682 35945682 single base substitution C T intron_variant LIRI-JP 13 35946741 35946741 single base substitution G T intron_variant LIRI-JP 13 35947549 35947549 single base substitution T C intron_variant LIRI-JP 13 35947628 35947628 single base substitution G T intron_variant LIRI-JP 13 35948551 35948551 single base substitution G T intron_variant LIRI-JP 13 35951919 35951919 single base substitution C T intron_variant LIRI-JP 13 35953277 35953277 single base substitution G C intron_variant LIRI-JP 13 35954684 35954684 single base substitution G T intron_variant LIRI-JP 13 35954965 35954965 single base substitution C T intron_variant LIRI-JP 13 35956047 35956047 single base substitution C G intron_variant LIRI-JP 13 35957509 35957509 single base substitution T C intron_variant LIRI-JP 13 35957899 35957899 single base substitution T C intron_variant LIRI-JP 13 35958257 35958257 single base substitution G A intron_variant LIRI-JP 13 35959505 35959505 single base substitution A G intron_variant LIRI-JP 13 35959696 35959696 single base substitution C A intron_variant LIRI-JP 13 35959767 35959767 single base substitution G C intron_variant LIRI-JP 13 35960290 35960290 single base substitution A G intron_variant LIRI-JP 13 35960347 35960347 single base substitution T A intron_variant LIRI-JP 13 35961074 35961074 single base substitution A C intron_variant LIRI-JP 13 35962037 35962037 single base substitution T C intron_variant LIRI-JP 13 35962853 35962853 single base substitution T A intron_variant LIRI-JP 13 35963951 35963951 single base substitution G A intron_variant LIRI-JP 13 35964449 35964449 single base substitution A T intron_variant LIRI-JP 13 35964965 35964965 single base substitution A G intron_variant LIRI-JP 13 35964993 35964993 single base substitution T C intron_variant LIRI-JP 13 35965556 35965556 single base substitution A G intron_variant LIRI-JP 13 35965761 35965761 deletion of <=200bp A - intron_variant LIRI-JP 13 35966419 35966419 single base substitution T C intron_variant LIRI-JP 13 35966664 35966664 single base substitution A C intron_variant LIRI-JP 13 35968111 35968111 single base substitution T A intron_variant LIRI-JP 13 35968215 35968227 deletion of <=200bp GTACTAAGTGTGG - intron_variant LIRI-JP 13 35968341 35968341 single base substitution T A intron_variant LIRI-JP 13 35968649 35968649 single base substitution C T intron_variant LIRI-JP 13 35969298 35969298 single base substitution T C intron_variant LIRI-JP 13 35969817 35969817 single base substitution A T intron_variant LIRI-JP 13 35970147 35970147 single base substitution A T intron_variant LIRI-JP 13 35971644 35971644 single base substitution G A intron_variant LIRI-JP 13 35971911 35971911 single base substitution A T intron_variant LIRI-JP 13 35972065 35972065 single base substitution T C intron_variant LIRI-JP 13 35972831 35972831 single base substitution C A intron_variant LIRI-JP 13 35973060 35973060 single base substitution C G intron_variant LIRI-JP 13 35974866 35974866 single base substitution A T intron_variant LIRI-JP 13 35975277 35975277 single base substitution A G intron_variant LIRI-JP 13 35975809 35975809 single base substitution T C intron_variant LIRI-JP 13 35975866 35975866 single base substitution A G intron_variant LIRI-JP 13 35977199 35977199 single base substitution G A intron_variant LIRI-JP 13 35979362 35979362 single base substitution A G intron_variant LIRI-JP 13 35979446 35979446 single base substitution T C intron_variant LIRI-JP 13 35979736 35979736 single base substitution A G intron_variant LIRI-JP 13 35979860 35979860 single base substitution T C intron_variant LIRI-JP 13 35979919 35979919 single base substitution G T intron_variant LIRI-JP 13 35980161 35980161 single base substitution C G intron_variant LIRI-JP 13 35980595 35980595 single base substitution T A intron_variant LIRI-JP 13 35980606 35980606 single base substitution C G intron_variant LIRI-JP 13 35983892 35983892 single base substitution C T intron_variant LIRI-JP 13 35984237 35984237 single base substitution A G intron_variant LIRI-JP 13 35985389 35985389 single base substitution T C intron_variant LIRI-JP 13 35986099 35986099 single base substitution C G intron_variant LIRI-JP 13 35986730 35986730 single base substitution G A intron_variant LIRI-JP 13 35987222 35987222 single base substitution A T intron_variant LIRI-JP 13 35989317 35989317 single base substitution G T intron_variant LIRI-JP 13 35989326 35989326 single base substitution T C intron_variant LIRI-JP 13 35990357 35990357 single base substitution C A intron_variant LIRI-JP 13 35992605 35992605 single base substitution A T intron_variant LIRI-JP 13 35992719 35992719 single base substitution T C intron_variant LIRI-JP 13 35992958 35992958 single base substitution T C intron_variant LIRI-JP 13 35992991 35992991 single base substitution A G intron_variant LIRI-JP 13 35993011 35993011 single base substitution A T intron_variant LIRI-JP 13 35993536 35993536 single base substitution C G intron_variant LIRI-JP 13 35994054 35994054 single base substitution T A intron_variant LIRI-JP 13 35994465 35994465 single base substitution T C intron_variant LIRI-JP 13 35994473 35994473 single base substitution G A intron_variant LIRI-JP 13 35996131 35996131 single base substitution A G intron_variant LIRI-JP 13 35996902 35996902 single base substitution A G intron_variant LIRI-JP 13 35998623 35998623 single base substitution C A intron_variant LIRI-JP 13 35998693 35998693 single base substitution T C intron_variant LIRI-JP 13 35999116 35999116 single base substitution G T intron_variant LIRI-JP 13 35999187 35999187 single base substitution T C intron_variant LIRI-JP 13 35999759 35999759 single base substitution C G intron_variant LIRI-JP 13 36001010 36001010 single base substitution C A intron_variant LIRI-JP 13 36001866 36001866 single base substitution G C intron_variant LIRI-JP 13 36002553 36002553 single base substitution C A intron_variant LIRI-JP 13 36003146 36003146 single base substitution G A intron_variant LIRI-JP 13 36004453 36004453 single base substitution T C intron_variant LIRI-JP 13 36005149 36005149 single base substitution A G intron_variant LIRI-JP 13 36006018 36006018 single base substitution C T intron_variant LIRI-JP 13 36006035 36006035 single base substitution G T intron_variant LIRI-JP 13 36006042 36006042 single base substitution A C intron_variant LIRI-JP 13 36006411 36006411 single base substitution T A stop_gained L2059* 6176T>A LIRI-JP 13 36006411 36006411 single base substitution T A stop_gained L2062* 6185T>A LIRI-JP 13 36007822 36007822 single base substitution G T intron_variant LIRI-JP 13 36007977 36007977 single base substitution A G intron_variant LIRI-JP 13 36010556 36010556 single base substitution C T intron_variant LIRI-JP 13 36010777 36010777 single base substitution A G intron_variant LIRI-JP 13 36010987 36010987 single base substitution G A intron_variant LIRI-JP 13 36011152 36011152 single base substitution A G intron_variant LIRI-JP 13 36011938 36011938 single base substitution G A intron_variant LIRI-JP 13 36012887 36012887 single base substitution T G intron_variant LIRI-JP 13 36012976 36012976 single base substitution T C intron_variant LIRI-JP 13 36014699 36014699 single base substitution A G intron_variant LIRI-JP 13 36015256 36015256 single base substitution G T intron_variant LIRI-JP 13 36015257 36015257 single base substitution T A intron_variant LIRI-JP 13 36016360 36016360 single base substitution A G intron_variant LIRI-JP 13 36017888 36017888 single base substitution G T intron_variant LIRI-JP 13 36018279 36018279 single base substitution A G intron_variant LIRI-JP 13 36018972 36018972 single base substitution C A intron_variant LIRI-JP 13 36019236 36019236 single base substitution T C intron_variant LIRI-JP 13 36019682 36019682 single base substitution A G intron_variant LIRI-JP 13 36021786 36021786 single base substitution T C intron_variant LIRI-JP 13 36022444 36022444 deletion of <=200bp C - intron_variant LIRI-JP 13 36022615 36022615 single base substitution G A intron_variant LIRI-JP 13 36023443 36023443 single base substitution G A intron_variant LIRI-JP 13 36023691 36023691 single base substitution A G intron_variant LIRI-JP 13 36023692 36023692 single base substitution T C intron_variant LIRI-JP 13 36024859 36024859 single base substitution C A intron_variant LIRI-JP 13 36025251 36025251 single base substitution T A intron_variant LIRI-JP 13 36025756 36025756 single base substitution A G intron_variant LIRI-JP 13 36025835 36025835 single base substitution T C intron_variant LIRI-JP 13 36026287 36026287 deletion of <=200bp C - frameshift_variant N2118 LIRI-JP 13 36026287 36026287 deletion of <=200bp C - frameshift_variant N2121 LIRI-JP 13 36027017 36027017 single base substitution C G intron_variant LIRI-JP 13 36027738 36027738 single base substitution C G intron_variant LIRI-JP 13 36027917 36027917 single base substitution C T intron_variant LIRI-JP 13 36028604 36028604 single base substitution A T intron_variant LIRI-JP 13 36029164 36029164 single base substitution T A intron_variant LIRI-JP 13 36029984 36029984 single base substitution C A intron_variant LIRI-JP 13 36030526 36030526 single base substitution T C intron_variant LIRI-JP 13 36032391 36032391 single base substitution C A intron_variant LIRI-JP 13 36032870 36032870 single base substitution C T intron_variant LIRI-JP 13 36034189 36034189 single base substitution T C intron_variant LIRI-JP 13 36034602 36034602 single base substitution T A intron_variant LIRI-JP 13 36035331 36035331 single base substitution A G intron_variant LIRI-JP 13 36035804 36035804 single base substitution C A intron_variant LIRI-JP 13 36039348 36039348 single base substitution T G intron_variant LIRI-JP 13 36039945 36039945 single base substitution G C intron_variant LIRI-JP 13 36040444 36040444 single base substitution T C intron_variant LIRI-JP 13 36041202 36041202 single base substitution C A intron_variant LIRI-JP 13 36042033 36042033 single base substitution T C intron_variant LIRI-JP 13 36042495 36042495 single base substitution G A intron_variant LIRI-JP 13 36043118 36043118 single base substitution C A intron_variant LIRI-JP 13 36043421 36043421 single base substitution A G intron_variant LIRI-JP 13 36043868 36043868 single base substitution G T intron_variant LIRI-JP 13 36044022 36044022 single base substitution G C intron_variant LIRI-JP 13 36044207 36044207 single base substitution T C intron_variant LIRI-JP 13 36044317 36044317 single base substitution C T intron_variant LIRI-JP 13 36044700 36044700 single base substitution C A intron_variant LIRI-JP 13 36044877 36044877 single base substitution G A intron_variant LIRI-JP 13 36045089 36045089 single base substitution G A intron_variant LIRI-JP 13 36047614 36047614 single base substitution A G intron_variant LIRI-JP 13 36047614 36047614 single base substitution A G upstream_gene_variant LIRI-JP 13 36047992 36047992 single base substitution T A intron_variant LIRI-JP 13 36047992 36047992 single base substitution T A upstream_gene_variant LIRI-JP 13 36048950 36048950 single base substitution A C intron_variant LIRI-JP 13 36048950 36048950 single base substitution A C upstream_gene_variant LIRI-JP 13 36049533 36049533 single base substitution T C intron_variant LIRI-JP 13 36049533 36049533 single base substitution T C upstream_gene_variant LIRI-JP 13 36049797 36049797 single base substitution A G intron_variant LIRI-JP 13 36049797 36049797 single base substitution A G upstream_gene_variant LIRI-JP 13 36049964 36049964 single base substitution G A intron_variant LIRI-JP 13 36049964 36049964 single base substitution G A upstream_gene_variant LIRI-JP 13 36050760 36050760 single base substitution T G intron_variant LIRI-JP 13 36050760 36050760 single base substitution T G upstream_gene_variant LIRI-JP 13 36050768 36050768 single base substitution G A intron_variant LIRI-JP 13 36050768 36050768 single base substitution G A upstream_gene_variant LIRI-JP 13 36051274 36051274 single base substitution G T intron_variant LIRI-JP 13 36051377 36051377 single base substitution A G intron_variant LIRI-JP 13 36053556 36053556 single base substitution A G intron_variant LIRI-JP 13 36053749 36053749 single base substitution G A intron_variant LIRI-JP 13 36053751 36053751 single base substitution G T intron_variant LIRI-JP 13 36054500 36054500 single base substitution C T intron_variant LIRI-JP 13 36054518 36054518 single base substitution G T intron_variant LIRI-JP 13 36056141 36056141 insertion of <=200bp - A intron_variant LIRI-JP 13 36056714 36056714 single base substitution T A intron_variant LIRI-JP 13 36057308 36057308 single base substitution A T intron_variant LIRI-JP 13 36057535 36057535 single base substitution A T intron_variant LIRI-JP 13 36057591 36057591 single base substitution C T intron_variant LIRI-JP 13 36058012 36058012 single base substitution A G intron_variant LIRI-JP 13 36058091 36058091 single base substitution G A intron_variant LIRI-JP 13 36058264 36058264 single base substitution C G intron_variant LIRI-JP 13 36058677 36058677 single base substitution G T intron_variant LIRI-JP 13 36058718 36058718 single base substitution G C intron_variant LIRI-JP 13 36059026 36059026 single base substitution T C intron_variant LIRI-JP 13 36060384 36060384 single base substitution A C intron_variant LIRI-JP 13 36060560 36060560 single base substitution T C intron_variant LIRI-JP 13 36062103 36062103 single base substitution A G intron_variant LIRI-JP 13 36062397 36062397 single base substitution C T intron_variant LIRI-JP 13 36064229 36064229 single base substitution C A intron_variant LIRI-JP 13 36065142 36065142 single base substitution A T intron_variant LIRI-JP 13 36065200 36065200 single base substitution A G intron_variant LIRI-JP 13 36065986 36065986 single base substitution A G intron_variant LIRI-JP 13 36066577 36066577 single base substitution G A intron_variant LIRI-JP 13 36067314 36067314 single base substitution A G intron_variant LIRI-JP 13 36067931 36067931 single base substitution A G intron_variant LIRI-JP 13 36067983 36067983 single base substitution G A intron_variant LIRI-JP 13 36068593 36068593 single base substitution G T intron_variant LIRI-JP 13 36069380 36069380 single base substitution G T intron_variant LIRI-JP 13 36069809 36069809 single base substitution A G intron_variant LIRI-JP 13 36071058 36071058 single base substitution C A intron_variant LIRI-JP 13 36071631 36071631 single base substitution T C intron_variant LIRI-JP 13 36072491 36072491 single base substitution G T intron_variant LIRI-JP 13 36072555 36072555 single base substitution T C intron_variant LIRI-JP 13 36072766 36072766 single base substitution T A intron_variant LIRI-JP 13 36072969 36072969 single base substitution T C intron_variant LIRI-JP 13 36074028 36074028 single base substitution C A intron_variant LIRI-JP 13 36074316 36074316 single base substitution C G intron_variant LIRI-JP 13 36074385 36074385 single base substitution C T intron_variant LIRI-JP 13 36074655 36074655 single base substitution G A intron_variant LIRI-JP 13 36075391 36075391 single base substitution G T intron_variant LIRI-JP 13 36075698 36075698 single base substitution A T intron_variant LIRI-JP 13 36076403 36076403 single base substitution A T intron_variant LIRI-JP 13 36076414 36076414 single base substitution T A intron_variant LIRI-JP 13 36076867 36076867 single base substitution C T intron_variant LIRI-JP 13 36078140 36078140 single base substitution G T intron_variant LIRI-JP 13 36078141 36078141 single base substitution A T intron_variant LIRI-JP 13 36079664 36079664 single base substitution G T intron_variant LIRI-JP 13 36079768 36079768 single base substitution A C intron_variant LIRI-JP 13 36080082 36080082 single base substitution T C intron_variant LIRI-JP 13 36080087 36080087 single base substitution A G intron_variant LIRI-JP 13 36081669 36081669 single base substitution C A intron_variant LIRI-JP 13 36082321 36082321 single base substitution C G intron_variant LIRI-JP 13 36082429 36082429 single base substitution A G intron_variant LIRI-JP 13 36082478 36082478 single base substitution C A intron_variant LIRI-JP 13 36082518 36082518 single base substitution A G intron_variant LIRI-JP 13 36084508 36084508 single base substitution A G intron_variant LIRI-JP 13 36084608 36084608 single base substitution T C intron_variant LIRI-JP 13 36084995 36084995 single base substitution T G intron_variant LIRI-JP 13 36085378 36085378 single base substitution G A intron_variant LIRI-JP 13 36085596 36085596 single base substitution T C intron_variant LIRI-JP 13 36085788 36085788 single base substitution G A intron_variant LIRI-JP 13 36087826 36087826 single base substitution T C intron_variant LIRI-JP 13 36088161 36088161 single base substitution C T intron_variant LIRI-JP 13 36089475 36089483 deletion of <=200bp TTTTAATGC - intron_variant LIRI-JP 13 36089681 36089681 single base substitution A G intron_variant LIRI-JP 13 36090174 36090174 single base substitution C A intron_variant LIRI-JP 13 36091384 36091384 single base substitution C T intron_variant LIRI-JP 13 36091459 36091459 single base substitution A G intron_variant LIRI-JP 13 36092021 36092021 single base substitution T A intron_variant LIRI-JP 13 36092361 36092361 single base substitution T C intron_variant LIRI-JP 13 36092765 36092765 single base substitution G T intron_variant LIRI-JP 13 36093569 36093569 single base substitution C A intron_variant LIRI-JP 13 36093575 36093575 single base substitution T G intron_variant LIRI-JP 13 36093755 36093755 single base substitution A G intron_variant LIRI-JP 13 36094121 36094121 single base substitution A G intron_variant LIRI-JP 13 36094207 36094207 single base substitution C G intron_variant LIRI-JP 13 36095571 36095571 single base substitution A G intron_variant LIRI-JP 13 36097727 36097727 single base substitution C A intron_variant LIRI-JP 13 36098367 36098367 single base substitution C A intron_variant LIRI-JP 13 36098585 36098585 single base substitution C A intron_variant LIRI-JP 13 36098762 36098762 single base substitution A C intron_variant LIRI-JP 13 36099135 36099135 single base substitution C T intron_variant LIRI-JP 13 36101254 36101254 single base substitution G A intron_variant LIRI-JP 13 36101518 36101518 single base substitution G A intron_variant LIRI-JP 13 36101990 36101990 single base substitution C A intron_variant LIRI-JP 13 36102236 36102236 single base substitution A G intron_variant LIRI-JP 13 36102262 36102262 single base substitution C A intron_variant LIRI-JP 13 36102828 36102828 single base substitution T C intron_variant LIRI-JP 13 36103075 36103075 single base substitution C T intron_variant LIRI-JP 13 36103971 36103971 single base substitution A G intron_variant LIRI-JP 13 36104295 36104295 single base substitution A G intron_variant LIRI-JP 13 36104312 36104312 deletion of <=200bp T - intron_variant LIRI-JP 13 36105259 36105259 single base substitution A G intron_variant LIRI-JP 13 36105456 36105456 single base substitution A G intron_variant LIRI-JP 13 36105939 36105939 single base substitution G A intron_variant LIRI-JP 13 36107870 36107870 single base substitution A G intron_variant LIRI-JP 13 36108358 36108358 single base substitution A G intron_variant LIRI-JP 13 36108537 36108537 single base substitution T C intron_variant LIRI-JP 13 36108981 36108981 single base substitution A G intron_variant LIRI-JP 13 36109293 36109293 single base substitution C A intron_variant LIRI-JP 13 36110810 36110810 single base substitution C T intron_variant LIRI-JP 13 36111445 36111445 single base substitution T C intron_variant LIRI-JP 13 36111723 36111723 single base substitution G T intron_variant LIRI-JP 13 36112230 36112230 single base substitution C A intron_variant LIRI-JP 13 36112576 36112576 single base substitution G A intron_variant LIRI-JP 13 36112688 36112688 single base substitution C A intron_variant LIRI-JP 13 36112763 36112763 single base substitution T A intron_variant LIRI-JP 13 36113521 36113521 single base substitution C A intron_variant LIRI-JP 13 36114280 36114280 single base substitution C G intron_variant LIRI-JP 13 36114548 36114548 single base substitution C A intron_variant LIRI-JP 13 36115304 36115304 single base substitution C G intron_variant LIRI-JP 13 36116914 36116914 single base substitution A G intron_variant LIRI-JP 13 36117585 36117585 single base substitution T A intron_variant LIRI-JP 13 36117869 36117869 single base substitution A G intron_variant LIRI-JP 13 36117977 36117977 single base substitution C T intron_variant LIRI-JP 13 36119000 36119000 single base substitution T C intron_variant LIRI-JP 13 36119162 36119162 single base substitution T A intron_variant LIRI-JP 13 36119219 36119219 single base substitution A T intron_variant LIRI-JP 13 36119301 36119301 single base substitution T G intron_variant LIRI-JP 13 36119964 36119964 single base substitution A G intron_variant LIRI-JP 13 36120349 36120349 single base substitution A G intron_variant LIRI-JP 13 36120622 36120622 single base substitution G T intron_variant LIRI-JP 13 36121749 36121749 single base substitution G A intron_variant LIRI-JP 13 36122347 36122347 single base substitution G T intron_variant LIRI-JP 13 36123451 36123451 single base substitution A G intron_variant LIRI-JP 13 36123538 36123538 single base substitution G A intron_variant LIRI-JP 13 36124094 36124094 single base substitution C A intron_variant LIRI-JP 13 36124331 36124331 single base substitution T C intron_variant LIRI-JP 13 36124362 36124362 single base substitution A T intron_variant LIRI-JP 13 36124385 36124385 single base substitution C A intron_variant LIRI-JP 13 36125160 36125160 single base substitution C T missense_variant P2263L 6788C>T LIRI-JP 13 36125160 36125160 single base substitution C T missense_variant P2266L 6797C>T LIRI-JP 13 36125160 36125160 single base substitution C T missense_variant P59L 176C>T LIRI-JP 13 36125692 36125692 single base substitution C T intron_variant LIRI-JP 13 36125904 36125904 single base substitution C T intron_variant LIRI-JP 13 36126135 36126135 single base substitution G T intron_variant LIRI-JP 13 36126591 36126591 single base substitution A G intron_variant LIRI-JP 13 36127137 36127137 single base substitution T G intron_variant LIRI-JP 13 36127788 36127788 single base substitution A G intron_variant LIRI-JP 13 36127926 36127926 single base substitution G A intron_variant LIRI-JP 13 36128050 36128050 single base substitution T C intron_variant LIRI-JP 13 36128342 36128342 single base substitution G T intron_variant LIRI-JP 13 36128427 36128427 single base substitution A T intron_variant LIRI-JP 13 36129273 36129273 single base substitution T C intron_variant LIRI-JP 13 36129762 36129762 single base substitution A T intron_variant LIRI-JP 13 36130087 36130087 single base substitution C T intron_variant LIRI-JP 13 36132267 36132267 single base substitution A G intron_variant LIRI-JP 13 36134147 36134147 single base substitution A G intron_variant LIRI-JP 13 36134496 36134496 single base substitution T C intron_variant LIRI-JP 13 36135080 36135080 single base substitution C A intron_variant LIRI-JP 13 36135081 36135081 single base substitution T A intron_variant LIRI-JP 13 36135148 36135148 single base substitution C A intron_variant LIRI-JP 13 36136218 36136218 single base substitution T C intron_variant LIRI-JP 13 36136355 36136355 single base substitution A T intron_variant LIRI-JP 13 36136357 36136357 single base substitution A G intron_variant LIRI-JP 13 36136508 36136508 single base substitution A G intron_variant LIRI-JP 13 36137575 36137575 single base substitution T C intron_variant LIRI-JP 13 36138025 36138025 single base substitution A C intron_variant LIRI-JP 13 36138933 36138933 single base substitution A G intron_variant LIRI-JP 13 36139216 36139216 single base substitution G A intron_variant LIRI-JP 13 36141156 36141156 single base substitution T C splice_donor_variant LIRI-JP 13 36141690 36141690 single base substitution G T intron_variant LIRI-JP 13 36141953 36141953 single base substitution T A intron_variant LIRI-JP 13 36142146 36142146 single base substitution G T intron_variant LIRI-JP 13 36142423 36142423 single base substitution G C intron_variant LIRI-JP 13 36143643 36143643 single base substitution T A intron_variant LIRI-JP 13 36144113 36144113 single base substitution T C intron_variant LIRI-JP 13 36146757 36146757 single base substitution C T intron_variant LIRI-JP 13 36146766 36146766 single base substitution T G intron_variant LIRI-JP 13 36148390 36148390 single base substitution T C intron_variant LIRI-JP 13 36148823 36148823 single base substitution G A intron_variant LIRI-JP 13 36148835 36148835 single base substitution C A intron_variant LIRI-JP 13 36149207 36149207 single base substitution A G intron_variant LIRI-JP 13 36149581 36149581 insertion of <=200bp - T intron_variant LIRI-JP 13 36149771 36149771 single base substitution A G intron_variant LIRI-JP 13 36149870 36149870 single base substitution G A intron_variant LIRI-JP 13 36150085 36150085 single base substitution A G intron_variant LIRI-JP 13 36150410 36150410 single base substitution T C intron_variant LIRI-JP 13 36152390 36152390 single base substitution T C intron_variant LIRI-JP 13 36154195 36154195 single base substitution T C intron_variant LIRI-JP 13 36154638 36154638 single base substitution A G intron_variant LIRI-JP 13 36157290 36157290 single base substitution A G intron_variant LIRI-JP 13 36157776 36157776 single base substitution T A intron_variant LIRI-JP 13 36158262 36158262 single base substitution T C intron_variant LIRI-JP 13 36158579 36158579 single base substitution C A intron_variant LIRI-JP 13 36159402 36159402 single base substitution T C intron_variant LIRI-JP 13 36160853 36160853 single base substitution T C intron_variant LIRI-JP 13 36161111 36161111 single base substitution A G intron_variant LIRI-JP 13 36162130 36162130 single base substitution A G intron_variant LIRI-JP 13 36162635 36162635 single base substitution T C intron_variant LIRI-JP 13 36162635 36162635 single base substitution T C upstream_gene_variant LIRI-JP 13 36162735 36162735 single base substitution T A intron_variant LIRI-JP 13 36162735 36162735 single base substitution T A upstream_gene_variant LIRI-JP 13 36163984 36163984 single base substitution A G intron_variant LIRI-JP 13 36163984 36163984 single base substitution A G upstream_gene_variant LIRI-JP 13 36164014 36164014 single base substitution T C intron_variant LIRI-JP 13 36164014 36164014 single base substitution T C upstream_gene_variant LIRI-JP 13 36164891 36164891 single base substitution G T intron_variant LIRI-JP 13 36164891 36164891 single base substitution G T upstream_gene_variant LIRI-JP 13 36166124 36166124 single base substitution T C intron_variant LIRI-JP 13 36166124 36166124 single base substitution T C upstream_gene_variant LIRI-JP 13 36167659 36167659 single base substitution T C intron_variant LIRI-JP 13 36168715 36168715 single base substitution A T intron_variant LIRI-JP 13 36169368 36169368 single base substitution G T intron_variant LIRI-JP 13 36169967 36169967 single base substitution A G intron_variant LIRI-JP 13 36172647 36172647 single base substitution A C intron_variant LIRI-JP 13 36172808 36172808 single base substitution C G intron_variant LIRI-JP 13 36173025 36173025 single base substitution G T intron_variant LIRI-JP 13 36174077 36174077 single base substitution T C intron_variant LIRI-JP 13 36174522 36174522 single base substitution C A intron_variant LIRI-JP 13 36174566 36174566 single base substitution T C intron_variant LIRI-JP 13 36175568 36175568 single base substitution G T intron_variant LIRI-JP 13 36176194 36176194 single base substitution C A intron_variant LIRI-JP 13 36176278 36176278 single base substitution G T intron_variant LIRI-JP 13 36176914 36176914 single base substitution C A intron_variant LIRI-JP 13 36177249 36177249 single base substitution G A intron_variant LIRI-JP 13 36177493 36177493 single base substitution C A intron_variant LIRI-JP 13 36177752 36177752 single base substitution A G intron_variant LIRI-JP 13 36178068 36178068 single base substitution G C intron_variant LIRI-JP 13 36178558 36178558 single base substitution T A intron_variant LIRI-JP 13 36179883 36179883 single base substitution C A intron_variant LIRI-JP 13 36180030 36180030 single base substitution G A intron_variant LIRI-JP 13 36180265 36180265 single base substitution G C intron_variant LIRI-JP 13 36180988 36180988 single base substitution T C intron_variant LIRI-JP 13 36181391 36181391 single base substitution A G intron_variant LIRI-JP 13 36181429 36181429 single base substitution A C intron_variant LIRI-JP 13 36181889 36181889 single base substitution T C intron_variant LIRI-JP 13 36183801 36183801 single base substitution G C intron_variant LIRI-JP 13 36183914 36183914 single base substitution T A intron_variant LIRI-JP 13 36184446 36184446 single base substitution T C intron_variant LIRI-JP 13 36186083 36186083 single base substitution C A intron_variant LIRI-JP 13 36186427 36186427 single base substitution G A intron_variant LIRI-JP 13 36186535 36186535 single base substitution C A intron_variant LIRI-JP 13 36187033 36187033 single base substitution G A intron_variant LIRI-JP 13 36189641 36189641 single base substitution C T intron_variant LIRI-JP 13 36189962 36189962 single base substitution G A intron_variant LIRI-JP 13 36192435 36192466 deletion of <=200bp ATAAAAAGTGATATCATTGATGATTAAATGCC - intron_variant LIRI-JP 13 36193691 36193691 single base substitution G A intron_variant LIRI-JP 13 36194551 36194551 single base substitution C T intron_variant LIRI-JP 13 36195128 36195128 single base substitution G T intron_variant LIRI-JP 13 36195508 36195508 single base substitution C A intron_variant LIRI-JP 13 36196728 36196728 single base substitution T A intron_variant LIRI-JP 13 36197729 36197729 single base substitution G T intron_variant LIRI-JP 13 36197754 36197754 deletion of <=200bp A - intron_variant LIRI-JP 13 36198225 36198225 single base substitution C A intron_variant LIRI-JP 13 36199539 36199539 single base substitution A T intron_variant LIRI-JP 13 36199877 36199877 single base substitution G T intron_variant LIRI-JP 13 36200421 36200421 single base substitution G A intron_variant LIRI-JP 13 36200851 36200851 single base substitution T A intron_variant LIRI-JP 13 36202566 36202566 single base substitution G T intron_variant LIRI-JP 13 36202568 36202568 single base substitution T A intron_variant LIRI-JP 13 36203084 36203084 single base substitution T C intron_variant LIRI-JP 13 36203769 36203769 single base substitution A T intron_variant LIRI-JP 13 36205672 36205672 single base substitution C T intron_variant LIRI-JP 13 36206479 36206479 single base substitution C G intron_variant LIRI-JP 13 36207481 36207481 single base substitution C A intron_variant LIRI-JP 13 36207633 36207633 single base substitution G A intron_variant LIRI-JP 13 36208127 36208127 single base substitution T A intron_variant LIRI-JP 13 36208947 36208947 single base substitution A T intron_variant LIRI-JP 13 36209686 36209686 single base substitution T C intron_variant LIRI-JP 13 36212683 36212683 single base substitution G A intron_variant LIRI-JP 13 36212928 36212928 single base substitution G A intron_variant LIRI-JP 13 36213284 36213284 single base substitution T C intron_variant LIRI-JP 13 36214336 36214336 single base substitution T A intron_variant LIRI-JP 13 36214337 36214337 single base substitution C T intron_variant LIRI-JP 13 36214513 36214513 single base substitution A G intron_variant LIRI-JP 13 36215337 36215337 single base substitution T C intron_variant LIRI-JP 13 36215405 36215405 single base substitution A G intron_variant LIRI-JP 13 36216084 36216084 single base substitution C T intron_variant LIRI-JP 13 36216635 36216635 single base substitution A T intron_variant LIRI-JP 13 36218336 36218336 single base substitution G T intron_variant LIRI-JP 13 36219409 36219409 single base substitution T C intron_variant LIRI-JP 13 36219489 36219489 single base substitution A G intron_variant LIRI-JP 13 36219845 36219845 single base substitution A G intron_variant LIRI-JP 13 36219865 36219865 single base substitution T A intron_variant LIRI-JP 13 36220422 36220422 single base substitution T C synonymous_variant F126F 378T>C LIRI-JP 13 36220422 36220422 single base substitution T C synonymous_variant F2545F 7635T>C LIRI-JP 13 36220422 36220422 single base substitution T C synonymous_variant F2548F 7644T>C LIRI-JP 13 36220422 36220422 single base substitution T C synonymous_variant F341F 1023T>C LIRI-JP 13 36221241 36221241 single base substitution A G intron_variant LIRI-JP 13 36222049 36222049 single base substitution G T intron_variant LIRI-JP 13 36222941 36222941 single base substitution G C intron_variant LIRI-JP 13 36223125 36223125 single base substitution C T intron_variant LIRI-JP 13 36223930 36223930 single base substitution G A missense_variant V194M 580G>A LIRI-JP 13 36223930 36223930 single base substitution G A missense_variant V2613M 7837G>A LIRI-JP 13 36223930 36223930 single base substitution G A missense_variant V2616M 7846G>A LIRI-JP 13 36223930 36223930 single base substitution G A missense_variant V409M 1225G>A LIRI-JP 13 36224320 36224320 single base substitution A G intron_variant LIRI-JP 13 36225409 36225409 single base substitution T G intron_variant LIRI-JP 13 36225797 36225797 single base substitution A G intron_variant LIRI-JP 13 36225809 36225809 single base substitution T A intron_variant LIRI-JP 13 36227312 36227312 single base substitution C A intron_variant LIRI-JP 13 36228828 36228828 single base substitution C T intron_variant LIRI-JP 13 36228861 36228863 deletion of <=200bp TAA - intron_variant LIRI-JP 13 36228890 36228890 single base substitution T A intron_variant LIRI-JP 13 36229613 36229613 single base substitution T A intron_variant LIRI-JP 13 36229761 36229761 single base substitution G A missense_variant C2722Y 8165G>A LIRI-JP 13 36229761 36229761 single base substitution G A missense_variant C2725Y 8174G>A LIRI-JP 13 36229761 36229761 single base substitution G A missense_variant C303Y 908G>A LIRI-JP 13 36229761 36229761 single base substitution G A missense_variant C518Y 1553G>A LIRI-JP 13 36230235 36230235 single base substitution C A intron_variant LIRI-JP 13 36230300 36230300 single base substitution A G intron_variant LIRI-JP 13 36230652 36230652 single base substitution A T intron_variant LIRI-JP 13 36231130 36231130 single base substitution G T intron_variant LIRI-JP 13 36231142 36231142 single base substitution G T intron_variant LIRI-JP 13 36231651 36231651 single base substitution A T intron_variant LIRI-JP 13 36231895 36231895 single base substitution A G intron_variant LIRI-JP 13 36231927 36231927 single base substitution T C intron_variant LIRI-JP 13 36233102 36233102 single base substitution T C intron_variant LIRI-JP 13 36234354 36234354 single base substitution C G intron_variant LIRI-JP 13 36235929 36235929 insertion of <=200bp - T intron_variant LIRI-JP 13 36235978 36235978 single base substitution G A intron_variant LIRI-JP 13 36236473 36236473 single base substitution G T intron_variant LIRI-JP 13 36236829 36236829 single base substitution T C intron_variant LIRI-JP 13 36237496 36237496 single base substitution G A intron_variant LIRI-JP 13 36237662 36237662 single base substitution A G intron_variant LIRI-JP 13 36238429 36238429 single base substitution A T intron_variant LIRI-JP 13 36238442 36238442 single base substitution A G intron_variant LIRI-JP 13 36240396 36240396 single base substitution C A intron_variant LIRI-JP 13 36240396 36240396 single base substitution C A upstream_gene_variant LIRI-JP 13 36240628 36240628 single base substitution T C intron_variant LIRI-JP 13 36240628 36240628 single base substitution T C upstream_gene_variant LIRI-JP 13 36241600 36241600 single base substitution G T missense_variant V2828F 8482G>T LIRI-JP 13 36241600 36241600 single base substitution G T missense_variant V2831F 8491G>T LIRI-JP 13 36241600 36241600 single base substitution G T missense_variant V409F 1225G>T LIRI-JP 13 36241600 36241600 single base substitution G T missense_variant V624F 1870G>T LIRI-JP 13 36241600 36241600 single base substitution G T upstream_gene_variant LIRI-JP 13 36241936 36241936 single base substitution A G intron_variant LIRI-JP 13 36241936 36241936 single base substitution A G upstream_gene_variant LIRI-JP 13 36243063 36243063 single base substitution A G intron_variant LIRI-JP 13 36243063 36243063 single base substitution A G upstream_gene_variant LIRI-JP 13 36243545 36243545 single base substitution A G intron_variant LIRI-JP 13 36243545 36243545 single base substitution A G upstream_gene_variant LIRI-JP 13 36245944 36245944 single base substitution G A 3_prime_UTR_variant LIRI-JP 13 36245944 36245944 single base substitution G A downstream_gene_variant LIRI-JP 13 36245944 36245944 single base substitution G A intron_variant LIRI-JP 13 36246180 36246180 single base substitution T C 3_prime_UTR_variant LIRI-JP 13 36246180 36246180 single base substitution T C downstream_gene_variant LIRI-JP 13 36246180 36246180 single base substitution T C intron_variant LIRI-JP 13 36247114 36247114 single base substitution C T downstream_gene_variant LIRI-JP 13 36247114 36247114 single base substitution C T exon_variant LIRI-JP 13 36252007 36252007 single base substitution C A downstream_gene_variant LIRI-JP 13 36252021 36252021 single base substitution C G downstream_gene_variant LUSC-CN 13 35697741 35697741 single base substitution A G intron_variant LUSC-KR 13 35516018 35516018 single base substitution C A upstream_gene_variant LUSC-KR 13 35517058 35517058 single base substitution G C missense_variant G34A 101G>C LUSC-KR 13 35530370 35530370 single base substitution G C intron_variant LUSC-KR 13 35531161 35531161 single base substitution C T intron_variant LUSC-KR 13 35538098 35538098 single base substitution T G intron_variant LUSC-KR 13 35541491 35541491 single base substitution T A intron_variant LUSC-KR 13 35542448 35542448 single base substitution G C intron_variant LUSC-KR 13 35543245 35543245 single base substitution G A intron_variant LUSC-KR 13 35550179 35550179 single base substitution C G intron_variant LUSC-KR 13 35552642 35552642 single base substitution G A intron_variant LUSC-KR 13 35552759 35552759 single base substitution C T intron_variant LUSC-KR 13 35557198 35557198 single base substitution G T intron_variant LUSC-KR 13 35557739 35557739 single base substitution C T intron_variant LUSC-KR 13 35563606 35563606 single base substitution G C intron_variant LUSC-KR 13 35564559 35564559 single base substitution T A intron_variant LUSC-KR 13 35564639 35564639 single base substitution G T intron_variant LUSC-KR 13 35567403 35567403 single base substitution G T intron_variant LUSC-KR 13 35568395 35568395 single base substitution T C intron_variant LUSC-KR 13 35570432 35570432 single base substitution G A intron_variant LUSC-KR 13 35572183 35572183 single base substitution T G intron_variant LUSC-KR 13 35573736 35573736 single base substitution T G intron_variant LUSC-KR 13 35573875 35573875 single base substitution G T intron_variant LUSC-KR 13 35578980 35578980 single base substitution A G intron_variant LUSC-KR 13 35580175 35580175 single base substitution G C intron_variant LUSC-KR 13 35586907 35586907 single base substitution A G intron_variant LUSC-KR 13 35589150 35589150 single base substitution C A intron_variant LUSC-KR 13 35590140 35590140 single base substitution C T intron_variant LUSC-KR 13 35590163 35590163 single base substitution A C intron_variant LUSC-KR 13 35597386 35597386 single base substitution C T intron_variant LUSC-KR 13 35598467 35598467 single base substitution A G intron_variant LUSC-KR 13 35599017 35599017 single base substitution G T intron_variant LUSC-KR 13 35603304 35603304 single base substitution A C intron_variant LUSC-KR 13 35603607 35603607 single base substitution A C intron_variant LUSC-KR 13 35610680 35610680 single base substitution C G intron_variant LUSC-KR 13 35611310 35611310 single base substitution C G intron_variant LUSC-KR 13 35613282 35613282 single base substitution G A intron_variant LUSC-KR 13 35613752 35613752 single base substitution A T intron_variant LUSC-KR 13 35613888 35613888 single base substitution C T intron_variant LUSC-KR 13 35614284 35614284 single base substitution T G intron_variant LUSC-KR 13 35618242 35618242 single base substitution G T intron_variant LUSC-KR 13 35618968 35618968 single base substitution G T intron_variant LUSC-KR 13 35619385 35619385 single base substitution A G intron_variant LUSC-KR 13 35622265 35622265 single base substitution G A intron_variant LUSC-KR 13 35627855 35627855 single base substitution A G intron_variant LUSC-KR 13 35628661 35628661 single base substitution A G intron_variant LUSC-KR 13 35628799 35628799 single base substitution G T intron_variant LUSC-KR 13 35629496 35629496 single base substitution C A intron_variant LUSC-KR 13 35630807 35630807 single base substitution G T intron_variant LUSC-KR 13 35632413 35632413 single base substitution G C intron_variant LUSC-KR 13 35633898 35633898 single base substitution C T intron_variant LUSC-KR 13 35636574 35636574 single base substitution T C intron_variant LUSC-KR 13 35642003 35642003 single base substitution G T intron_variant LUSC-KR 13 35642003 35642003 single base substitution G T upstream_gene_variant LUSC-KR 13 35644108 35644108 single base substitution T C exon_variant LUSC-KR 13 35644108 35644108 single base substitution T C missense_variant Y435H 1303T>C LUSC-KR 13 35644825 35644825 single base substitution G A intron_variant LUSC-KR 13 35644855 35644855 single base substitution G A splice_acceptor_variant LUSC-KR 13 35647405 35647405 single base substitution G T downstream_gene_variant LUSC-KR 13 35647405 35647405 single base substitution G T intron_variant LUSC-KR 13 35648256 35648256 single base substitution A G downstream_gene_variant LUSC-KR 13 35648256 35648256 single base substitution A G intron_variant LUSC-KR 13 35649322 35649322 single base substitution G A downstream_gene_variant LUSC-KR 13 35649322 35649322 single base substitution G A intron_variant LUSC-KR 13 35654060 35654060 single base substitution G C intron_variant LUSC-KR 13 35657125 35657125 single base substitution T A intron_variant LUSC-KR 13 35657487 35657487 single base substitution G T intron_variant LUSC-KR 13 35658671 35658671 single base substitution C T intron_variant LUSC-KR 13 35659858 35659858 single base substitution A C intron_variant LUSC-KR 13 35663551 35663551 single base substitution G T intron_variant LUSC-KR 13 35663917 35663917 single base substitution G A intron_variant LUSC-KR 13 35664112 35664112 single base substitution G A intron_variant LUSC-KR 13 35665902 35665902 single base substitution C T intron_variant LUSC-KR 13 35672013 35672013 single base substitution A T intron_variant LUSC-KR 13 35674805 35674805 single base substitution C G intron_variant LUSC-KR 13 35676483 35676483 single base substitution G C intron_variant LUSC-KR 13 35677566 35677566 single base substitution T C intron_variant LUSC-KR 13 35680032 35680032 single base substitution C A intron_variant LUSC-KR 13 35686746 35686746 single base substitution C T intron_variant LUSC-KR 13 35686965 35686965 single base substitution G T intron_variant LUSC-KR 13 35691903 35691903 single base substitution G T intron_variant LUSC-KR 13 35693415 35693415 single base substitution G C intron_variant LUSC-KR 13 35693882 35693882 single base substitution C A intron_variant LUSC-KR 13 35693953 35693953 single base substitution C G intron_variant LUSC-KR 13 35697998 35697998 single base substitution G A intron_variant LUSC-KR 13 35701174 35701174 single base substitution G A intron_variant LUSC-KR 13 35704396 35704396 single base substitution G C intron_variant LUSC-KR 13 35704845 35704845 single base substitution G A intron_variant LUSC-KR 13 35708550 35708550 single base substitution G T intron_variant LUSC-KR 13 35720870 35720870 single base substitution G T intron_variant LUSC-KR 13 35721739 35721739 single base substitution G T intron_variant LUSC-KR 13 35722871 35722871 single base substitution A G intron_variant LUSC-KR 13 35723859 35723859 single base substitution C G intron_variant LUSC-KR 13 35723875 35723875 single base substitution C T intron_variant LUSC-KR 13 35725178 35725178 single base substitution G T intron_variant LUSC-KR 13 35730238 35730238 single base substitution C T missense_variant A849V 2546C>T LUSC-KR 13 35738430 35738430 single base substitution A G intron_variant LUSC-KR 13 35740274 35740274 single base substitution G C intron_variant LUSC-KR 13 35744706 35744706 single base substitution C T intron_variant LUSC-KR 13 35744731 35744731 single base substitution A G intron_variant LUSC-KR 13 35748060 35748060 single base substitution G T intron_variant LUSC-KR 13 35752405 35752405 single base substitution G C intron_variant LUSC-KR 13 35753026 35753026 single base substitution G A intron_variant LUSC-KR 13 35753136 35753136 single base substitution G A intron_variant LUSC-KR 13 35755927 35755927 single base substitution G C intron_variant LUSC-KR 13 35762702 35762702 single base substitution A T intron_variant LUSC-KR 13 35766938 35766938 single base substitution A G intron_variant LUSC-KR 13 35771292 35771292 single base substitution G T intron_variant LUSC-KR 13 35776705 35776705 single base substitution C A intron_variant LUSC-KR 13 35779576 35779576 single base substitution T G intron_variant LUSC-KR 13 35779939 35779939 single base substitution G T intron_variant LUSC-KR 13 35782066 35782066 single base substitution G T intron_variant LUSC-KR 13 35785671 35785671 single base substitution G T intron_variant LUSC-KR 13 35786337 35786337 single base substitution C T intron_variant LUSC-KR 13 35787417 35787417 single base substitution G A intron_variant LUSC-KR 13 35795391 35795391 single base substitution G T intron_variant LUSC-KR 13 35795392 35795392 single base substitution A T intron_variant LUSC-KR 13 35797411 35797411 single base substitution G A intron_variant LUSC-KR 13 35797412 35797412 single base substitution G T intron_variant LUSC-KR 13 35806596 35806596 single base substitution T C intron_variant LUSC-KR 13 35812848 35812848 single base substitution G C intron_variant LUSC-KR 13 35813376 35813376 single base substitution A T intron_variant LUSC-KR 13 35820561 35820561 single base substitution G C intron_variant LUSC-KR 13 35820562 35820562 single base substitution G T intron_variant LUSC-KR 13 35823345 35823345 single base substitution G T intron_variant LUSC-KR 13 35823725 35823725 single base substitution A G intron_variant LUSC-KR 13 35824724 35824724 single base substitution G C intron_variant LUSC-KR 13 35827767 35827767 single base substitution C T intron_variant LUSC-KR 13 35832349 35832349 single base substitution G A intron_variant LUSC-KR 13 35832597 35832597 single base substitution G T intron_variant LUSC-KR 13 35834383 35834383 single base substitution C T intron_variant LUSC-KR 13 35836223 35836223 single base substitution G T intron_variant LUSC-KR 13 35837372 35837372 single base substitution C A intron_variant LUSC-KR 13 35841293 35841293 single base substitution A T intron_variant LUSC-KR 13 35842518 35842518 single base substitution G T intron_variant LUSC-KR 13 35844618 35844618 single base substitution C A intron_variant LUSC-KR 13 35845684 35845684 single base substitution T C intron_variant LUSC-KR 13 35847968 35847968 single base substitution G A intron_variant LUSC-KR 13 35849586 35849586 single base substitution G C intron_variant LUSC-KR 13 35851195 35851195 single base substitution A T intron_variant LUSC-KR 13 35856134 35856134 single base substitution C T intron_variant LUSC-KR 13 35866566 35866566 single base substitution T G intron_variant LUSC-KR 13 35875657 35875657 single base substitution G T intron_variant LUSC-KR 13 35878398 35878398 single base substitution T A intron_variant LUSC-KR 13 35883298 35883298 single base substitution G T intron_variant LUSC-KR 13 35884615 35884615 single base substitution C A intron_variant LUSC-KR 13 35885655 35885655 single base substitution G T intron_variant LUSC-KR 13 35887751 35887751 single base substitution A G intron_variant LUSC-KR 13 35888029 35888029 single base substitution G T intron_variant LUSC-KR 13 35893341 35893341 single base substitution A T intron_variant LUSC-KR 13 35897416 35897416 single base substitution G T intron_variant LUSC-KR 13 35901661 35901661 single base substitution G T intron_variant LUSC-KR 13 35901882 35901882 single base substitution C T intron_variant LUSC-KR 13 35902152 35902152 single base substitution A G intron_variant LUSC-KR 13 35902677 35902677 single base substitution G A intron_variant LUSC-KR 13 35902969 35902969 single base substitution G T intron_variant LUSC-KR 13 35902971 35902971 single base substitution A T intron_variant LUSC-KR 13 35906337 35906337 single base substitution G T intron_variant LUSC-KR 13 35909545 35909545 single base substitution C A intron_variant LUSC-KR 13 35914460 35914460 single base substitution A T intron_variant LUSC-KR 13 35915490 35915490 single base substitution A G intron_variant LUSC-KR 13 35919458 35919458 single base substitution G A intron_variant LUSC-KR 13 35922213 35922213 single base substitution C G intron_variant LUSC-KR 13 35922418 35922418 single base substitution G T intron_variant LUSC-KR 13 35922727 35922727 single base substitution G A intron_variant LUSC-KR 13 35923432 35923432 single base substitution G T intron_variant LUSC-KR 13 35923969 35923969 single base substitution G T intron_variant LUSC-KR 13 35924774 35924774 single base substitution T A intron_variant LUSC-KR 13 35925139 35925139 single base substitution A T intron_variant LUSC-KR 13 35926139 35926139 single base substitution G T intron_variant LUSC-KR 13 35926497 35926497 single base substitution A G intron_variant LUSC-KR 13 35928242 35928242 single base substitution C G intron_variant LUSC-KR 13 35929271 35929271 single base substitution A G intron_variant LUSC-KR 13 35929747 35929747 single base substitution T C intron_variant LUSC-KR 13 35942058 35942058 single base substitution A C intron_variant LUSC-KR 13 35944670 35944670 single base substitution C T intron_variant LUSC-KR 13 35947888 35947888 single base substitution A T intron_variant LUSC-KR 13 35948780 35948780 single base substitution T A intron_variant LUSC-KR 13 35949324 35949324 single base substitution C T intron_variant LUSC-KR 13 35951455 35951455 single base substitution G C intron_variant LUSC-KR 13 35952693 35952693 single base substitution C T intron_variant LUSC-KR 13 35952850 35952850 single base substitution G A intron_variant LUSC-KR 13 35956847 35956847 single base substitution A G intron_variant LUSC-KR 13 35958615 35958615 single base substitution G T intron_variant LUSC-KR 13 35958914 35958914 single base substitution C G intron_variant LUSC-KR 13 35959926 35959926 single base substitution A T intron_variant LUSC-KR 13 35962811 35962811 single base substitution C G intron_variant LUSC-KR 13 35962818 35962818 single base substitution A T intron_variant LUSC-KR 13 35965074 35965074 single base substitution C T intron_variant LUSC-KR 13 35967305 35967305 single base substitution G T intron_variant LUSC-KR 13 35967345 35967345 single base substitution G T intron_variant LUSC-KR 13 35971509 35971509 single base substitution C G intron_variant LUSC-KR 13 35972166 35972166 single base substitution T G intron_variant LUSC-KR 13 35972714 35972714 single base substitution C T intron_variant LUSC-KR 13 35977645 35977645 single base substitution G C intron_variant LUSC-KR 13 35979088 35979088 single base substitution G A intron_variant LUSC-KR 13 35979787 35979787 single base substitution A G intron_variant LUSC-KR 13 35982864 35982864 single base substitution G T intron_variant LUSC-KR 13 35984069 35984069 single base substitution A T intron_variant LUSC-KR 13 35987595 35987595 single base substitution A T intron_variant LUSC-KR 13 35989459 35989459 single base substitution G A intron_variant LUSC-KR 13 35989723 35989723 single base substitution G T intron_variant LUSC-KR 13 35990430 35990430 single base substitution G A intron_variant LUSC-KR 13 35991780 35991780 single base substitution G C intron_variant LUSC-KR 13 35992679 35992679 single base substitution G T intron_variant LUSC-KR 13 35992868 35992868 single base substitution G T intron_variant LUSC-KR 13 35993373 35993373 single base substitution A G intron_variant LUSC-KR 13 35996291 35996291 single base substitution T G intron_variant LUSC-KR 13 35997068 35997068 single base substitution C G intron_variant LUSC-KR 13 35999596 35999596 single base substitution G T intron_variant LUSC-KR 13 36000957 36000957 single base substitution T C intron_variant LUSC-KR 13 36007444 36007444 single base substitution C G intron_variant LUSC-KR 13 36010023 36010023 single base substitution G T intron_variant LUSC-KR 13 36013574 36013574 single base substitution A T intron_variant LUSC-KR 13 36016026 36016026 single base substitution C T intron_variant LUSC-KR 13 36016168 36016168 single base substitution C T intron_variant LUSC-KR 13 36016245 36016245 single base substitution T C intron_variant LUSC-KR 13 36019798 36019798 single base substitution A G intron_variant LUSC-KR 13 36025118 36025118 single base substitution T A intron_variant LUSC-KR 13 36032150 36032150 single base substitution C T intron_variant LUSC-KR 13 36033946 36033946 single base substitution C A intron_variant LUSC-KR 13 36034254 36034254 single base substitution G C intron_variant LUSC-KR 13 36040963 36040963 single base substitution G C intron_variant LUSC-KR 13 36041138 36041138 single base substitution C T intron_variant LUSC-KR 13 36042416 36042416 single base substitution A C intron_variant LUSC-KR 13 36043092 36043092 single base substitution T A intron_variant LUSC-KR 13 36044378 36044378 single base substitution A G intron_variant LUSC-KR 13 36045875 36045875 single base substitution C A intron_variant LUSC-KR 13 36047346 36047346 single base substitution A T intron_variant LUSC-KR 13 36047346 36047346 single base substitution A T upstream_gene_variant LUSC-KR 13 36048327 36048327 single base substitution G C intron_variant LUSC-KR 13 36048327 36048327 single base substitution G C upstream_gene_variant LUSC-KR 13 36058147 36058147 single base substitution A T intron_variant LUSC-KR 13 36058415 36058415 single base substitution A G intron_variant LUSC-KR 13 36060196 36060196 single base substitution G T intron_variant LUSC-KR 13 36064089 36064089 single base substitution C T intron_variant LUSC-KR 13 36067921 36067921 single base substitution G C intron_variant LUSC-KR 13 36069333 36069333 single base substitution C A intron_variant LUSC-KR 13 36069959 36069959 single base substitution A G intron_variant LUSC-KR 13 36076425 36076425 single base substitution G A intron_variant LUSC-KR 13 36078902 36078902 single base substitution C G intron_variant LUSC-KR 13 36079191 36079191 single base substitution A G intron_variant LUSC-KR 13 36082035 36082035 single base substitution C A intron_variant LUSC-KR 13 36083996 36083996 single base substitution A G intron_variant LUSC-KR 13 36085739 36085739 single base substitution T C intron_variant LUSC-KR 13 36086892 36086892 single base substitution G T intron_variant LUSC-KR 13 36086923 36086923 single base substitution G C intron_variant LUSC-KR 13 36088833 36088833 single base substitution A C intron_variant LUSC-KR 13 36095215 36095215 single base substitution G A intron_variant LUSC-KR 13 36096272 36096272 single base substitution A T intron_variant LUSC-KR 13 36097118 36097118 single base substitution G A intron_variant LUSC-KR 13 36097309 36097309 single base substitution T A intron_variant LUSC-KR 13 36097490 36097490 single base substitution G A intron_variant LUSC-KR 13 36098117 36098117 single base substitution G A intron_variant LUSC-KR 13 36101221 36101221 single base substitution G A intron_variant LUSC-KR 13 36101253 36101253 single base substitution G T intron_variant LUSC-KR 13 36109122 36109122 single base substitution G C intron_variant LUSC-KR 13 36110788 36110788 single base substitution G A intron_variant LUSC-KR 13 36110810 36110810 single base substitution C T intron_variant LUSC-KR 13 36111990 36111990 single base substitution G T intron_variant LUSC-KR 13 36113916 36113916 single base substitution G A intron_variant LUSC-KR 13 36115959 36115959 single base substitution C T intron_variant LUSC-KR 13 36118560 36118560 single base substitution A T intron_variant LUSC-KR 13 36118937 36118937 single base substitution G C intron_variant LUSC-KR 13 36119058 36119058 single base substitution A G intron_variant LUSC-KR 13 36119209 36119209 single base substitution G T intron_variant LUSC-KR 13 36122079 36122079 single base substitution G T intron_variant LUSC-KR 13 36124764 36124764 single base substitution G A intron_variant LUSC-KR 13 36125511 36125511 single base substitution G T intron_variant LUSC-KR 13 36127771 36127771 single base substitution A C intron_variant LUSC-KR 13 36128464 36128464 single base substitution T C intron_variant LUSC-KR 13 36130077 36130077 single base substitution T C intron_variant LUSC-KR 13 36133653 36133653 single base substitution G T intron_variant LUSC-KR 13 36134993 36134993 single base substitution T C intron_variant LUSC-KR 13 36136807 36136807 single base substitution G A intron_variant LUSC-KR 13 36152954 36152954 single base substitution C T intron_variant LUSC-KR 13 36160969 36160969 single base substitution C A intron_variant LUSC-KR 13 36165673 36165673 single base substitution G A intron_variant LUSC-KR 13 36165673 36165673 single base substitution G A upstream_gene_variant LUSC-KR 13 36169314 36169314 single base substitution T G intron_variant LUSC-KR 13 36176954 36176954 single base substitution C T intron_variant LUSC-KR 13 36181493 36181493 single base substitution C A intron_variant LUSC-KR 13 36182218 36182218 single base substitution C T intron_variant LUSC-KR 13 36184645 36184645 single base substitution G T intron_variant LUSC-KR 13 36188725 36188725 single base substitution G A intron_variant LUSC-KR 13 36201616 36201616 single base substitution G T intron_variant LUSC-KR 13 36206885 36206885 single base substitution C G intron_variant LUSC-KR 13 36207413 36207413 single base substitution G C intron_variant LUSC-KR 13 36208536 36208536 single base substitution C G intron_variant LUSC-KR 13 36210012 36210012 single base substitution A G intron_variant LUSC-KR 13 36220292 36220292 single base substitution T C intron_variant LUSC-KR 13 36224298 36224298 single base substitution C A intron_variant LUSC-KR 13 36226594 36226594 single base substitution G A intron_variant LUSC-KR 13 36230117 36230117 single base substitution G T intron_variant LUSC-KR 13 36237961 36237961 single base substitution T C intron_variant LUSC-KR 13 36238400 36238400 single base substitution A T intron_variant LUSC-KR 13 36239511 36239511 single base substitution G T intron_variant LUSC-KR 13 36244245 36244245 single base substitution G A intron_variant LUSC-KR 13 36244245 36244245 single base substitution G A upstream_gene_variant LUSC-KR 13 36245413 36245413 single base substitution A T 3_prime_UTR_variant LUSC-KR 13 36245413 36245413 single base substitution A T intron_variant LUSC-KR 13 36249810 36249810 single base substitution C A downstream_gene_variant LUSC-US 13 35517158 35517158 single base substitution C T synonymous_variant I67I 201C>T LUSC-US 13 35615106 35615106 single base substitution A G missense_variant I111V 331A>G LUSC-US 13 35644898 35644898 single base substitution C T exon_variant LUSC-US 13 35644898 35644898 single base substitution C T missense_variant H494Y 1480C>T LUSC-US 13 35672485 35672485 single base substitution G T missense_variant M541I 1623G>T LUSC-US 13 35692566 35692566 single base substitution A C missense_variant H733P 2198A>C LUSC-US 13 35733368 35733368 single base substitution C T synonymous_variant V1020V 3060C>T LUSC-US 13 35769999 35769999 single base substitution A G splice_acceptor_variant LUSC-US 13 35770090 35770090 single base substitution A G missense_variant T1670A 5008A>G LUSC-US 13 35770090 35770090 single base substitution A G missense_variant T1673A 5017A>G LUSC-US 13 35770415 35770415 single base substitution C A missense_variant P1778H 5333C>A LUSC-US 13 35770415 35770415 single base substitution C A missense_variant P1781H 5342C>A LUSC-US 13 35864535 35864535 single base substitution G T missense_variant C1926F 5777G>T LUSC-US 13 35864535 35864535 single base substitution G T missense_variant C1929F 5786G>T LUSC-US 13 35864575 35864575 single base substitution G T synonymous_variant L1939L 5817G>T LUSC-US 13 35864575 35864575 single base substitution G T synonymous_variant L1942L 5826G>T LUSC-US 13 35923291 35923291 single base substitution G T stop_gained E1981* 5941G>T LUSC-US 13 35923291 35923291 single base substitution G T stop_gained E1984* 5950G>T LUSC-US 13 36026233 36026233 single base substitution G T synonymous_variant T2100T 6300G>T LUSC-US 13 36026233 36026233 single base substitution G T synonymous_variant T2103T 6309G>T LUSC-US 13 36049443 36049443 single base substitution A G intron_variant LUSC-US 13 36049443 36049443 single base substitution A G upstream_gene_variant LUSC-US 13 36049686 36049686 single base substitution G T intron_variant LUSC-US 13 36049686 36049686 single base substitution G T upstream_gene_variant LUSC-US 13 36049898 36049898 single base substitution G A intron_variant LUSC-US 13 36049898 36049898 single base substitution G A upstream_gene_variant LUSC-US 13 36050132 36050132 single base substitution C A intron_variant LUSC-US 13 36050132 36050132 single base substitution C A upstream_gene_variant LUSC-US 13 36124678 36124678 single base substitution C G stop_gained S10* 29C>G LUSC-US 13 36124678 36124678 single base substitution C G stop_gained S2214* 6641C>G LUSC-US 13 36124678 36124678 single base substitution C G stop_gained S2217* 6650C>G LUSC-US 13 36141107 36141107 single base substitution G A missense_variant E123K 367G>A LUSC-US 13 36141107 36141107 single base substitution G A missense_variant E2327K 6979G>A LUSC-US 13 36141107 36141107 single base substitution G A missense_variant E2330K 6988G>A LUSC-US 13 36158054 36158054 single base substitution C T missense_variant P145L 434C>T LUSC-US 13 36158054 36158054 single base substitution C T missense_variant P2349L 7046C>T LUSC-US 13 36158054 36158054 single base substitution C T missense_variant P2352L 7055C>T LUSC-US 13 36158055 36158055 single base substitution C T synonymous_variant P145P 435C>T LUSC-US 13 36158055 36158055 single base substitution C T synonymous_variant P2349P 7047C>T LUSC-US 13 36158055 36158055 single base substitution C T synonymous_variant P2352P 7056C>T MALY-DE 13 35513298 35513298 single base substitution G A upstream_gene_variant MALY-DE 13 35513367 35513367 single base substitution G T upstream_gene_variant MALY-DE 13 35513985 35513985 single base substitution T C upstream_gene_variant MALY-DE 13 35517827 35517827 single base substitution C G intron_variant MALY-DE 13 35520771 35520771 single base substitution T C intron_variant MALY-DE 13 35524592 35524592 single base substitution T G intron_variant MALY-DE 13 35526716 35526716 single base substitution A T intron_variant MALY-DE 13 35526773 35526773 single base substitution A C intron_variant MALY-DE 13 35527427 35527427 single base substitution C T intron_variant MALY-DE 13 35528634 35528634 single base substitution T G intron_variant MALY-DE 13 35529846 35529846 single base substitution A T intron_variant MALY-DE 13 35531516 35531516 single base substitution G T intron_variant MALY-DE 13 35531517 35531517 single base substitution A C intron_variant MALY-DE 13 35533116 35533116 single base substitution A G intron_variant MALY-DE 13 35533246 35533246 single base substitution T C intron_variant MALY-DE 13 35538345 35538345 single base substitution T A intron_variant MALY-DE 13 35539773 35539773 insertion of <=200bp - T intron_variant MALY-DE 13 35541077 35541077 single base substitution T G intron_variant MALY-DE 13 35541168 35541168 single base substitution T C intron_variant MALY-DE 13 35541497 35541497 single base substitution A T intron_variant MALY-DE 13 35543666 35543666 single base substitution A T intron_variant MALY-DE 13 35544942 35544942 single base substitution G C intron_variant MALY-DE 13 35545334 35545334 single base substitution A G intron_variant MALY-DE 13 35546473 35546473 single base substitution G A intron_variant MALY-DE 13 35548753 35548753 single base substitution A G intron_variant MALY-DE 13 35548860 35548860 single base substitution T G intron_variant MALY-DE 13 35549086 35549086 single base substitution A T intron_variant MALY-DE 13 35550172 35550172 single base substitution A G intron_variant MALY-DE 13 35550554 35550554 single base substitution T G intron_variant MALY-DE 13 35550812 35550812 single base substitution A G intron_variant MALY-DE 13 35551414 35551414 single base substitution A T intron_variant MALY-DE 13 35553237 35553237 single base substitution C T intron_variant MALY-DE 13 35554335 35554335 single base substitution G T intron_variant MALY-DE 13 35554413 35554413 single base substitution A T intron_variant MALY-DE 13 35554817 35554817 single base substitution A G intron_variant MALY-DE 13 35556091 35556091 insertion of <=200bp - TC intron_variant MALY-DE 13 35556091 35556092 deletion of <=200bp TC - intron_variant MALY-DE 13 35556138 35556138 single base substitution T C intron_variant MALY-DE 13 35556680 35556680 single base substitution C T intron_variant MALY-DE 13 35556914 35556914 single base substitution T A intron_variant MALY-DE 13 35560669 35560669 single base substitution C A intron_variant MALY-DE 13 35566112 35566112 insertion of <=200bp - T intron_variant MALY-DE 13 35568919 35568919 single base substitution C A intron_variant MALY-DE 13 35569752 35569752 insertion of <=200bp - A intron_variant MALY-DE 13 35570676 35570676 single base substitution T G intron_variant MALY-DE 13 35574409 35574409 single base substitution G A intron_variant MALY-DE 13 35575100 35575100 single base substitution T G intron_variant MALY-DE 13 35575103 35575103 single base substitution G T intron_variant MALY-DE 13 35577728 35577728 single base substitution T A intron_variant MALY-DE 13 35580335 35580335 deletion of <=200bp T - intron_variant MALY-DE 13 35581490 35581490 single base substitution C A intron_variant MALY-DE 13 35582187 35582187 single base substitution T C intron_variant MALY-DE 13 35582303 35582303 single base substitution G T intron_variant MALY-DE 13 35584007 35584007 single base substitution T A intron_variant MALY-DE 13 35594034 35594034 single base substitution C T intron_variant MALY-DE 13 35594063 35594063 single base substitution T G intron_variant MALY-DE 13 35595160 35595160 insertion of <=200bp - T intron_variant MALY-DE 13 35595470 35595470 single base substitution G T intron_variant MALY-DE 13 35595498 35595498 insertion of <=200bp - T intron_variant MALY-DE 13 35597730 35597730 single base substitution T G intron_variant MALY-DE 13 35599020 35599020 single base substitution A C intron_variant MALY-DE 13 35601230 35601230 single base substitution T C intron_variant MALY-DE 13 35601762 35601762 single base substitution T C intron_variant MALY-DE 13 35607649 35607649 single base substitution T C intron_variant MALY-DE 13 35613960 35613960 single base substitution T G intron_variant MALY-DE 13 35618717 35618717 single base substitution C T intron_variant MALY-DE 13 35618970 35618970 single base substitution G T intron_variant MALY-DE 13 35621339 35621340 deletion of <=200bp TG - intron_variant MALY-DE 13 35624910 35624910 insertion of <=200bp - T intron_variant MALY-DE 13 35641883 35641883 single base substitution A T intron_variant MALY-DE 13 35641883 35641883 single base substitution A T upstream_gene_variant MALY-DE 13 35646235 35646235 single base substitution C T downstream_gene_variant MALY-DE 13 35646235 35646235 single base substitution C T intron_variant MALY-DE 13 35647928 35647928 single base substitution A C downstream_gene_variant MALY-DE 13 35647928 35647928 single base substitution A C intron_variant MALY-DE 13 35652629 35652629 single base substitution G A intron_variant MALY-DE 13 35654247 35654247 single base substitution A C intron_variant MALY-DE 13 35661937 35661937 single base substitution T C intron_variant MALY-DE 13 35662576 35662576 single base substitution G T intron_variant MALY-DE 13 35664572 35664572 single base substitution T C intron_variant MALY-DE 13 35664648 35664648 single base substitution T G intron_variant MALY-DE 13 35668372 35668372 single base substitution G A intron_variant MALY-DE 13 35669984 35669984 single base substitution T C intron_variant MALY-DE 13 35688577 35688577 single base substitution A C intron_variant MALY-DE 13 35692261 35692261 single base substitution T G intron_variant MALY-DE 13 35697278 35697278 insertion of <=200bp - A intron_variant MALY-DE 13 35702545 35702545 single base substitution C A intron_variant MALY-DE 13 35708526 35708526 single base substitution G A intron_variant MALY-DE 13 35711644 35711644 single base substitution T G intron_variant MALY-DE 13 35712310 35712310 single base substitution C T intron_variant MALY-DE 13 35712966 35712969 deletion of <=200bp AAAC - intron_variant MALY-DE 13 35713370 35713370 single base substitution G T intron_variant MALY-DE 13 35715191 35715191 single base substitution T C intron_variant MALY-DE 13 35720857 35720858 deletion of <=200bp CT - intron_variant MALY-DE 13 35722436 35722436 single base substitution A C intron_variant MALY-DE 13 35728028 35728028 single base substitution C T intron_variant MALY-DE 13 35728792 35728792 single base substitution G A intron_variant MALY-DE 13 35730928 35730928 single base substitution T C intron_variant MALY-DE 13 35731500 35731500 single base substitution T G intron_variant MALY-DE 13 35732582 35732582 insertion of <=200bp - A intron_variant MALY-DE 13 35734232 35734232 single base substitution A C intron_variant MALY-DE 13 35737248 35737248 insertion of <=200bp - T intron_variant MALY-DE 13 35739215 35739215 single base substitution T A intron_variant MALY-DE 13 35740254 35740254 single base substitution A G intron_variant MALY-DE 13 35742337 35742337 single base substitution T G intron_variant MALY-DE 13 35743016 35743018 deletion of <=200bp AAT - intron_variant MALY-DE 13 35753801 35753801 single base substitution T G intron_variant MALY-DE 13 35754198 35754198 single base substitution T A intron_variant MALY-DE 13 35756419 35756419 single base substitution A T intron_variant MALY-DE 13 35758298 35758298 single base substitution A T intron_variant MALY-DE 13 35763172 35763172 single base substitution C A intron_variant MALY-DE 13 35766020 35766020 single base substitution T G intron_variant MALY-DE 13 35766028 35766028 single base substitution A C intron_variant MALY-DE 13 35767100 35767100 single base substitution A G intron_variant MALY-DE 13 35770175 35770175 single base substitution G C missense_variant S1698T 5093G>C MALY-DE 13 35770175 35770175 single base substitution G C missense_variant S1701T 5102G>C MALY-DE 13 35770907 35770907 single base substitution G T intron_variant MALY-DE 13 35774516 35774516 insertion of <=200bp - TA intron_variant MALY-DE 13 35776287 35776287 single base substitution T G intron_variant MALY-DE 13 35776586 35776586 single base substitution T G intron_variant MALY-DE 13 35777732 35777732 single base substitution T G intron_variant MALY-DE 13 35779110 35779110 single base substitution A C intron_variant MALY-DE 13 35779513 35779513 single base substitution G C intron_variant MALY-DE 13 35780054 35780054 single base substitution A C intron_variant MALY-DE 13 35781474 35781474 single base substitution T A intron_variant MALY-DE 13 35781649 35781649 single base substitution A C intron_variant MALY-DE 13 35781869 35781869 single base substitution G A intron_variant MALY-DE 13 35787510 35787510 single base substitution G T intron_variant MALY-DE 13 35790473 35790473 single base substitution T C intron_variant MALY-DE 13 35791525 35791525 single base substitution A T intron_variant MALY-DE 13 35796516 35796516 single base substitution T A intron_variant MALY-DE 13 35797038 35797038 single base substitution G T intron_variant MALY-DE 13 35797505 35797505 single base substitution T C intron_variant MALY-DE 13 35799810 35799810 single base substitution T C intron_variant MALY-DE 13 35799945 35799945 single base substitution A G intron_variant MALY-DE 13 35800570 35800570 single base substitution A T intron_variant MALY-DE 13 35802342 35802342 single base substitution T A intron_variant MALY-DE 13 35804825 35804825 single base substitution G A intron_variant MALY-DE 13 35805834 35805834 single base substitution C G intron_variant MALY-DE 13 35811981 35811981 single base substitution T A intron_variant MALY-DE 13 35812695 35812695 single base substitution T C intron_variant MALY-DE 13 35812957 35812957 single base substitution A T intron_variant MALY-DE 13 35815395 35815395 single base substitution C A intron_variant MALY-DE 13 35815556 35815556 single base substitution A G intron_variant MALY-DE 13 35816183 35816183 single base substitution A G intron_variant MALY-DE 13 35818618 35818618 single base substitution T G intron_variant MALY-DE 13 35822892 35822892 single base substitution G A intron_variant MALY-DE 13 35823045 35823045 deletion of <=200bp G - intron_variant MALY-DE 13 35825406 35825406 single base substitution C T intron_variant MALY-DE 13 35826681 35826681 single base substitution C T intron_variant MALY-DE 13 35831100 35831100 single base substitution T A intron_variant MALY-DE 13 35833153 35833153 single base substitution A G intron_variant MALY-DE 13 35833521 35833521 single base substitution T C intron_variant MALY-DE 13 35833644 35833644 single base substitution T A intron_variant MALY-DE 13 35833808 35833808 single base substitution T A intron_variant MALY-DE 13 35834418 35834418 single base substitution G T intron_variant MALY-DE 13 35836084 35836084 single base substitution T C intron_variant MALY-DE 13 35837526 35837526 single base substitution A T intron_variant MALY-DE 13 35838344 35838344 single base substitution C T intron_variant MALY-DE 13 35838528 35838528 single base substitution A G intron_variant MALY-DE 13 35839043 35839044 deletion of <=200bp AG - intron_variant MALY-DE 13 35841665 35841665 single base substitution T C intron_variant MALY-DE 13 35842676 35842676 single base substitution A G intron_variant MALY-DE 13 35847012 35847012 single base substitution A G intron_variant MALY-DE 13 35847072 35847072 single base substitution A G intron_variant MALY-DE 13 35852759 35852759 single base substitution A C intron_variant MALY-DE 13 35852854 35852854 single base substitution T G intron_variant MALY-DE 13 35854616 35854616 single base substitution T G intron_variant MALY-DE 13 35855085 35855085 insertion of <=200bp - T intron_variant MALY-DE 13 35855426 35855426 single base substitution T A intron_variant MALY-DE 13 35855523 35855523 single base substitution A G intron_variant MALY-DE 13 35859325 35859325 single base substitution G A intron_variant MALY-DE 13 35860853 35860853 single base substitution A C intron_variant MALY-DE 13 35861272 35861272 single base substitution T G intron_variant MALY-DE 13 35862092 35862092 single base substitution A C intron_variant MALY-DE 13 35862374 35862374 single base substitution A C intron_variant MALY-DE 13 35862859 35862859 single base substitution C T intron_variant MALY-DE 13 35863989 35863989 single base substitution C T intron_variant MALY-DE 13 35864002 35864002 single base substitution T G intron_variant MALY-DE 13 35864003 35864003 single base substitution C T intron_variant MALY-DE 13 35866900 35866900 single base substitution A C intron_variant MALY-DE 13 35866991 35866991 single base substitution T C intron_variant MALY-DE 13 35867464 35867464 single base substitution A G intron_variant MALY-DE 13 35870836 35870836 single base substitution A C intron_variant MALY-DE 13 35872148 35872148 single base substitution T C intron_variant MALY-DE 13 35872933 35872933 deletion of <=200bp T - intron_variant MALY-DE 13 35873851 35873851 single base substitution A T intron_variant MALY-DE 13 35874025 35874025 single base substitution T C intron_variant MALY-DE 13 35874452 35874453 deletion of <=200bp CT - intron_variant MALY-DE 13 35877167 35877167 single base substitution G A intron_variant MALY-DE 13 35877840 35877840 single base substitution T C intron_variant MALY-DE 13 35879239 35879239 single base substitution C A intron_variant MALY-DE 13 35880535 35880535 single base substitution T G intron_variant MALY-DE 13 35881628 35881628 single base substitution T C intron_variant MALY-DE 13 35881705 35881705 single base substitution T C intron_variant MALY-DE 13 35883070 35883070 deletion of <=200bp A - intron_variant MALY-DE 13 35885228 35885228 single base substitution A G intron_variant MALY-DE 13 35886464 35886464 single base substitution T C intron_variant MALY-DE 13 35889648 35889648 single base substitution G A intron_variant MALY-DE 13 35889861 35889861 single base substitution A T intron_variant MALY-DE 13 35891193 35891193 single base substitution A G intron_variant MALY-DE 13 35891427 35891427 single base substitution A C intron_variant MALY-DE 13 35892796 35892796 single base substitution T A intron_variant MALY-DE 13 35898999 35898999 single base substitution T C intron_variant MALY-DE 13 35899104 35899104 single base substitution C T intron_variant MALY-DE 13 35901818 35901818 single base substitution C T intron_variant MALY-DE 13 35902312 35902312 single base substitution A C intron_variant MALY-DE 13 35902632 35902632 single base substitution A T intron_variant MALY-DE 13 35903401 35903401 single base substitution C A intron_variant MALY-DE 13 35905851 35905851 single base substitution T C intron_variant MALY-DE 13 35907164 35907164 single base substitution C T intron_variant MALY-DE 13 35911296 35911296 single base substitution G A intron_variant MALY-DE 13 35911924 35911924 single base substitution A C intron_variant MALY-DE 13 35914449 35914449 single base substitution T G intron_variant MALY-DE 13 35915834 35915834 single base substitution A G intron_variant MALY-DE 13 35922755 35922755 single base substitution A T intron_variant MALY-DE 13 35922843 35922843 deletion of <=200bp A - intron_variant MALY-DE 13 35923681 35923681 single base substitution T C intron_variant MALY-DE 13 35923822 35923822 single base substitution T G intron_variant MALY-DE 13 35925191 35925191 single base substitution A G intron_variant MALY-DE 13 35925211 35925211 single base substitution A C intron_variant MALY-DE 13 35926965 35926965 single base substitution T C intron_variant MALY-DE 13 35927612 35927612 single base substitution G T intron_variant MALY-DE 13 35927698 35927698 single base substitution A C intron_variant MALY-DE 13 35928430 35928430 single base substitution T G intron_variant MALY-DE 13 35929074 35929074 single base substitution T G intron_variant MALY-DE 13 35929346 35929346 insertion of <=200bp - T intron_variant MALY-DE 13 35929662 35929662 single base substitution T C intron_variant MALY-DE 13 35932176 35932176 single base substitution T A intron_variant MALY-DE 13 35935216 35935216 single base substitution A G intron_variant MALY-DE 13 35935610 35935610 single base substitution C A intron_variant MALY-DE 13 35936187 35936187 single base substitution A T intron_variant MALY-DE 13 35938146 35938146 single base substitution G C intron_variant MALY-DE 13 35940540 35940540 single base substitution T C intron_variant MALY-DE 13 35941410 35941410 single base substitution A C intron_variant MALY-DE 13 35942029 35942029 single base substitution A G intron_variant MALY-DE 13 35942222 35942222 single base substitution T C intron_variant MALY-DE 13 35942538 35942538 single base substitution A G intron_variant MALY-DE 13 35943226 35943226 single base substitution T C intron_variant MALY-DE 13 35945106 35945106 single base substitution A G intron_variant MALY-DE 13 35946460 35946460 single base substitution T G intron_variant MALY-DE 13 35951539 35951551 deletion of <=200bp GGAACTATCCTTT - intron_variant MALY-DE 13 35955594 35955594 single base substitution G A intron_variant MALY-DE 13 35955985 35955985 single base substitution T C intron_variant MALY-DE 13 35956081 35956081 single base substitution T A intron_variant MALY-DE 13 35956445 35956445 single base substitution G T intron_variant MALY-DE 13 35956629 35956629 single base substitution G T intron_variant MALY-DE 13 35956817 35956817 single base substitution C T intron_variant MALY-DE 13 35957209 35957209 single base substitution T C intron_variant MALY-DE 13 35958654 35958654 single base substitution T C intron_variant MALY-DE 13 35959800 35959800 single base substitution G T intron_variant MALY-DE 13 35961874 35961874 deletion of <=200bp A - intron_variant MALY-DE 13 35961929 35961929 single base substitution C T intron_variant MALY-DE 13 35962634 35962634 single base substitution T C intron_variant MALY-DE 13 35963493 35963493 single base substitution T C intron_variant MALY-DE 13 35964879 35964879 single base substitution G C intron_variant MALY-DE 13 35965523 35965523 single base substitution T C intron_variant MALY-DE 13 35965607 35965607 single base substitution A T intron_variant MALY-DE 13 35969472 35969484 deletion of <=200bp ATCTGCTTGTTTA - intron_variant MALY-DE 13 35969669 35969669 single base substitution T G intron_variant MALY-DE 13 35972824 35972824 single base substitution C T intron_variant MALY-DE 13 35972827 35972827 single base substitution T C intron_variant MALY-DE 13 35975252 35975252 single base substitution A C intron_variant MALY-DE 13 35976744 35976744 single base substitution A C intron_variant MALY-DE 13 35976842 35976842 single base substitution T C intron_variant MALY-DE 13 35979390 35979390 single base substitution T A intron_variant MALY-DE 13 35979417 35979417 single base substitution T A intron_variant MALY-DE 13 35979650 35979650 single base substitution T C intron_variant MALY-DE 13 35979935 35979935 single base substitution T C intron_variant MALY-DE 13 35979989 35979989 single base substitution T A intron_variant MALY-DE 13 35980189 35980189 single base substitution G C intron_variant MALY-DE 13 35980972 35980972 single base substitution A C intron_variant MALY-DE 13 35981056 35981056 single base substitution A C intron_variant MALY-DE 13 35981629 35981629 single base substitution A C intron_variant MALY-DE 13 35982170 35982170 single base substitution A C intron_variant MALY-DE 13 35982220 35982220 deletion of <=200bp A - intron_variant MALY-DE 13 35983670 35983670 single base substitution A G intron_variant MALY-DE 13 35985228 35985228 single base substitution T G intron_variant MALY-DE 13 35985263 35985263 single base substitution G A intron_variant MALY-DE 13 35985425 35985425 single base substitution T C intron_variant MALY-DE 13 35993096 35993096 single base substitution G A intron_variant MALY-DE 13 35994045 35994045 single base substitution T A intron_variant MALY-DE 13 35994108 35994108 single base substitution T C intron_variant MALY-DE 13 36004646 36004646 single base substitution A C intron_variant MALY-DE 13 36004658 36004658 single base substitution A C intron_variant MALY-DE 13 36006603 36006603 deletion of <=200bp T - intron_variant MALY-DE 13 36007856 36007856 single base substitution C T intron_variant MALY-DE 13 36008249 36008251 deletion of <=200bp TTC - intron_variant MALY-DE 13 36009689 36009689 insertion of <=200bp - G intron_variant MALY-DE 13 36012609 36012609 single base substitution C G intron_variant MALY-DE 13 36012888 36012888 single base substitution G A intron_variant MALY-DE 13 36015446 36015446 single base substitution A T intron_variant MALY-DE 13 36016017 36016017 single base substitution A G intron_variant MALY-DE 13 36016030 36016030 single base substitution A T intron_variant MALY-DE 13 36016807 36016807 single base substitution G A intron_variant MALY-DE 13 36018262 36018262 single base substitution A G intron_variant MALY-DE 13 36019622 36019622 single base substitution A T intron_variant MALY-DE 13 36022815 36022815 single base substitution T G intron_variant MALY-DE 13 36023976 36023976 single base substitution T G intron_variant MALY-DE 13 36024200 36024200 single base substitution G A intron_variant MALY-DE 13 36026172 36026172 single base substitution T C intron_variant MALY-DE 13 36030394 36030394 single base substitution T G intron_variant MALY-DE 13 36031570 36031570 single base substitution A C intron_variant MALY-DE 13 36032070 36032070 insertion of <=200bp - TTCC intron_variant MALY-DE 13 36033143 36033143 deletion of <=200bp C - intron_variant MALY-DE 13 36038671 36038671 single base substitution T G intron_variant MALY-DE 13 36042898 36042898 single base substitution C T intron_variant MALY-DE 13 36043259 36043259 single base substitution A G intron_variant MALY-DE 13 36043782 36043782 single base substitution T G intron_variant MALY-DE 13 36048718 36048718 single base substitution C T intron_variant MALY-DE 13 36048718 36048718 single base substitution C T upstream_gene_variant MALY-DE 13 36050385 36050385 single base substitution C A intron_variant MALY-DE 13 36050385 36050385 single base substitution C A upstream_gene_variant MALY-DE 13 36051860 36051860 single base substitution A C intron_variant MALY-DE 13 36056825 36056825 deletion of <=200bp T - intron_variant MALY-DE 13 36060706 36060706 single base substitution G A intron_variant MALY-DE 13 36060983 36060983 single base substitution C T intron_variant MALY-DE 13 36062246 36062246 insertion of <=200bp - T intron_variant MALY-DE 13 36064121 36064121 single base substitution T C intron_variant MALY-DE 13 36065734 36065734 single base substitution C T intron_variant MALY-DE 13 36068336 36068336 single base substitution G C intron_variant MALY-DE 13 36069161 36069161 insertion of <=200bp - A intron_variant MALY-DE 13 36069475 36069475 single base substitution A T intron_variant MALY-DE 13 36070807 36070807 single base substitution A G intron_variant MALY-DE 13 36072748 36072748 single base substitution T G intron_variant MALY-DE 13 36072846 36072846 single base substitution A C intron_variant MALY-DE 13 36072848 36072848 single base substitution T C intron_variant MALY-DE 13 36073156 36073156 single base substitution T C intron_variant MALY-DE 13 36073826 36073826 single base substitution C T intron_variant MALY-DE 13 36075437 36075437 single base substitution C A intron_variant MALY-DE 13 36075810 36075810 single base substitution T C intron_variant MALY-DE 13 36079097 36079097 single base substitution A G intron_variant MALY-DE 13 36079484 36079484 single base substitution C T intron_variant MALY-DE 13 36082721 36082721 single base substitution G T intron_variant MALY-DE 13 36083511 36083512 deletion of <=200bp AG - intron_variant MALY-DE 13 36084282 36084282 single base substitution A G intron_variant MALY-DE 13 36084807 36084807 single base substitution A T intron_variant MALY-DE 13 36088106 36088106 single base substitution G A intron_variant MALY-DE 13 36088455 36088455 single base substitution G A intron_variant MALY-DE 13 36089564 36089564 single base substitution T C intron_variant MALY-DE 13 36090460 36090460 single base substitution A T intron_variant MALY-DE 13 36092469 36092469 single base substitution G A intron_variant MALY-DE 13 36107029 36107029 insertion of <=200bp - T intron_variant MALY-DE 13 36107450 36107450 single base substitution A G intron_variant MALY-DE 13 36109314 36109318 deletion of <=200bp TGAGT - intron_variant MALY-DE 13 36111651 36111651 single base substitution A G intron_variant MALY-DE 13 36113552 36113552 single base substitution G C intron_variant MALY-DE 13 36117632 36117632 single base substitution A C intron_variant MALY-DE 13 36119081 36119081 single base substitution C T intron_variant MALY-DE 13 36122569 36122569 single base substitution C A intron_variant MALY-DE 13 36125472 36125472 single base substitution A G intron_variant MALY-DE 13 36125898 36125898 single base substitution C A intron_variant MALY-DE 13 36126197 36126197 single base substitution C T intron_variant MALY-DE 13 36128729 36128729 single base substitution T G intron_variant MALY-DE 13 36130648 36130648 insertion of <=200bp - T intron_variant MALY-DE 13 36136858 36136858 single base substitution A C intron_variant MALY-DE 13 36138055 36138055 single base substitution G A intron_variant MALY-DE 13 36141143 36141143 single base substitution G A missense_variant D135N 403G>A MALY-DE 13 36141143 36141143 single base substitution G A missense_variant D2339N 7015G>A MALY-DE 13 36141143 36141143 single base substitution G A missense_variant D2342N 7024G>A MALY-DE 13 36141430 36141430 single base substitution T A intron_variant MALY-DE 13 36145425 36145425 single base substitution T A intron_variant MALY-DE 13 36145426 36145426 single base substitution C T intron_variant MALY-DE 13 36145610 36145610 single base substitution A C intron_variant MALY-DE 13 36149734 36149734 single base substitution T A intron_variant MALY-DE 13 36152649 36152649 single base substitution T A intron_variant MALY-DE 13 36154250 36154250 single base substitution G A intron_variant MALY-DE 13 36159382 36159382 single base substitution G T intron_variant MALY-DE 13 36163165 36163165 single base substitution C T intron_variant MALY-DE 13 36163165 36163165 single base substitution C T upstream_gene_variant MALY-DE 13 36164722 36164722 deletion of <=200bp T - intron_variant MALY-DE 13 36164722 36164722 deletion of <=200bp T - upstream_gene_variant MALY-DE 13 36166389 36166389 single base substitution C G intron_variant MALY-DE 13 36166389 36166389 single base substitution C G upstream_gene_variant MALY-DE 13 36167150 36167150 single base substitution A G 5_prime_UTR_variant MALY-DE 13 36167150 36167150 single base substitution A G intron_variant MALY-DE 13 36167717 36167717 single base substitution A T intron_variant MALY-DE 13 36169085 36169086 deletion of <=200bp CA - intron_variant MALY-DE 13 36169545 36169545 single base substitution A G intron_variant MALY-DE 13 36170402 36170402 single base substitution A C intron_variant MALY-DE 13 36171795 36171795 single base substitution A C intron_variant MALY-DE 13 36176706 36176706 single base substitution T A intron_variant MALY-DE 13 36177411 36177411 single base substitution G A intron_variant MALY-DE 13 36179983 36179983 single base substitution A T intron_variant MALY-DE 13 36180420 36180420 single base substitution A G intron_variant MALY-DE 13 36183115 36183115 single base substitution C A intron_variant MALY-DE 13 36185476 36185476 single base substitution G T intron_variant MALY-DE 13 36186278 36186278 insertion of <=200bp - T intron_variant MALY-DE 13 36188795 36188795 single base substitution G T intron_variant MALY-DE 13 36191682 36191682 single base substitution C T intron_variant MALY-DE 13 36191700 36191700 single base substitution A G intron_variant MALY-DE 13 36192319 36192319 single base substitution T G intron_variant MALY-DE 13 36197873 36197873 single base substitution T A intron_variant MALY-DE 13 36198709 36198709 single base substitution G A intron_variant MALY-DE 13 36203935 36203935 single base substitution T A intron_variant MALY-DE 13 36206291 36206291 single base substitution T G intron_variant MALY-DE 13 36206506 36206506 single base substitution T G intron_variant MALY-DE 13 36206641 36206641 single base substitution T C intron_variant MALY-DE 13 36209431 36209431 single base substitution A G intron_variant MALY-DE 13 36212107 36212107 single base substitution G A intron_variant MALY-DE 13 36219781 36219781 single base substitution A G intron_variant MALY-DE 13 36221990 36221990 single base substitution C G intron_variant MALY-DE 13 36229337 36229337 single base substitution G T intron_variant MALY-DE 13 36233706 36233706 single base substitution T G intron_variant MALY-DE 13 36235178 36235178 deletion of <=200bp T - intron_variant MALY-DE 13 36237471 36237471 single base substitution T C intron_variant MALY-DE 13 36237586 36237586 deletion of <=200bp T - intron_variant MALY-DE 13 36238438 36238438 single base substitution G A intron_variant MALY-DE 13 36240343 36240343 single base substitution C T intron_variant MALY-DE 13 36240343 36240343 single base substitution C T upstream_gene_variant MALY-DE 13 36243141 36243141 single base substitution T C intron_variant MALY-DE 13 36243141 36243141 single base substitution T C upstream_gene_variant MALY-DE 13 36243247 36243247 single base substitution A T intron_variant MALY-DE 13 36243247 36243247 single base substitution A T upstream_gene_variant MALY-DE 13 36243427 36243427 single base substitution G A intron_variant MALY-DE 13 36243427 36243427 single base substitution G A upstream_gene_variant MALY-DE 13 36244630 36244630 single base substitution A C intron_variant MALY-DE 13 36244630 36244630 single base substitution A C upstream_gene_variant MALY-DE 13 36244910 36244910 single base substitution C G intron_variant MALY-DE 13 36244910 36244910 single base substitution C G upstream_gene_variant MALY-DE 13 36245720 36245720 single base substitution C T 3_prime_UTR_variant MALY-DE 13 36245720 36245720 single base substitution C T downstream_gene_variant MALY-DE 13 36245720 36245720 single base substitution C T intron_variant MELA-AU 13 35511448 35511448 single base substitution G A upstream_gene_variant MELA-AU 13 35511744 35511744 single base substitution C T upstream_gene_variant MELA-AU 13 35511999 35511999 single base substitution C T upstream_gene_variant MELA-AU 13 35512091 35512091 single base substitution T C upstream_gene_variant MELA-AU 13 35512113 35512113 single base substitution C T upstream_gene_variant MELA-AU 13 35512374 35512374 single base substitution T C upstream_gene_variant MELA-AU 13 35512798 35512798 single base substitution C T upstream_gene_variant MELA-AU 13 35513092 35513092 single base substitution C T upstream_gene_variant MELA-AU 13 35513109 35513109 single base substitution G A upstream_gene_variant MELA-AU 13 35513110 35513110 single base substitution G A upstream_gene_variant MELA-AU 13 35513169 35513169 single base substitution G A upstream_gene_variant MELA-AU 13 35513269 35513269 single base substitution G A upstream_gene_variant MELA-AU 13 35513296 35513296 single base substitution C T upstream_gene_variant MELA-AU 13 35513359 35513359 single base substitution G A upstream_gene_variant MELA-AU 13 35513640 35513641 multiple base substitution (>=2bp and <=200bp) CT TA upstream_gene_variant MELA-AU 13 35514047 35514047 single base substitution G A upstream_gene_variant MELA-AU 13 35514064 35514064 single base substitution G A upstream_gene_variant MELA-AU 13 35514283 35514283 single base substitution G A upstream_gene_variant MELA-AU 13 35514295 35514295 single base substitution G A upstream_gene_variant MELA-AU 13 35514484 35514484 single base substitution G A upstream_gene_variant MELA-AU 13 35514791 35514791 single base substitution G C upstream_gene_variant MELA-AU 13 35515199 35515199 single base substitution G T upstream_gene_variant MELA-AU 13 35515392 35515392 single base substitution C T upstream_gene_variant MELA-AU 13 35515495 35515495 single base substitution C T upstream_gene_variant MELA-AU 13 35515774 35515774 single base substitution G A upstream_gene_variant MELA-AU 13 35516092 35516092 single base substitution A G upstream_gene_variant MELA-AU 13 35516384 35516385 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 35517432 35517432 single base substitution C G intron_variant MELA-AU 13 35517456 35517456 single base substitution C T intron_variant MELA-AU 13 35517572 35517572 single base substitution G A intron_variant MELA-AU 13 35517951 35517951 single base substitution G A intron_variant MELA-AU 13 35518023 35518023 single base substitution C T intron_variant MELA-AU 13 35518107 35518107 single base substitution A G intron_variant MELA-AU 13 35518126 35518126 single base substitution G A intron_variant MELA-AU 13 35518157 35518157 single base substitution G A intron_variant MELA-AU 13 35518577 35518577 single base substitution G T intron_variant MELA-AU 13 35518912 35518912 single base substitution C T intron_variant MELA-AU 13 35518956 35518956 single base substitution T C intron_variant MELA-AU 13 35518958 35518958 single base substitution T G intron_variant MELA-AU 13 35519174 35519174 single base substitution A T intron_variant MELA-AU 13 35519293 35519293 single base substitution T C intron_variant MELA-AU 13 35519642 35519642 single base substitution C T intron_variant MELA-AU 13 35520070 35520070 single base substitution C T intron_variant MELA-AU 13 35520361 35520361 single base substitution T A intron_variant MELA-AU 13 35520501 35520501 single base substitution C T intron_variant MELA-AU 13 35521070 35521070 single base substitution C T intron_variant MELA-AU 13 35521250 35521250 single base substitution T A intron_variant MELA-AU 13 35521674 35521674 single base substitution C T intron_variant MELA-AU 13 35521802 35521802 deletion of <=200bp T - intron_variant MELA-AU 13 35521813 35521813 single base substitution T A intron_variant MELA-AU 13 35522339 35522339 single base substitution C T intron_variant MELA-AU 13 35522344 35522344 single base substitution T G intron_variant MELA-AU 13 35522355 35522355 single base substitution G A intron_variant MELA-AU 13 35522442 35522442 single base substitution G A intron_variant MELA-AU 13 35522659 35522659 single base substitution C T intron_variant MELA-AU 13 35522762 35522762 single base substitution G A intron_variant MELA-AU 13 35522944 35522944 single base substitution T G intron_variant MELA-AU 13 35522970 35522970 single base substitution T A intron_variant MELA-AU 13 35523496 35523496 single base substitution G A intron_variant MELA-AU 13 35523506 35523506 single base substitution G A intron_variant MELA-AU 13 35523528 35523528 single base substitution G A intron_variant MELA-AU 13 35523628 35523628 single base substitution G A intron_variant MELA-AU 13 35523763 35523763 single base substitution G A intron_variant MELA-AU 13 35523949 35523949 single base substitution A T intron_variant MELA-AU 13 35524223 35524223 single base substitution G A intron_variant MELA-AU 13 35525276 35525276 single base substitution T C intron_variant MELA-AU 13 35525332 35525332 single base substitution G A intron_variant MELA-AU 13 35525423 35525423 single base substitution T C intron_variant MELA-AU 13 35525659 35525659 single base substitution G A intron_variant MELA-AU 13 35526170 35526170 single base substitution C T intron_variant MELA-AU 13 35526330 35526330 single base substitution C T intron_variant MELA-AU 13 35526399 35526399 single base substitution C A intron_variant MELA-AU 13 35526448 35526448 single base substitution G A intron_variant MELA-AU 13 35526476 35526476 single base substitution G T intron_variant MELA-AU 13 35526516 35526516 single base substitution C T intron_variant MELA-AU 13 35526630 35526630 single base substitution C T intron_variant MELA-AU 13 35526842 35526842 single base substitution G A intron_variant MELA-AU 13 35527009 35527009 single base substitution G A intron_variant MELA-AU 13 35527073 35527073 single base substitution C T intron_variant MELA-AU 13 35527143 35527143 single base substitution G A intron_variant MELA-AU 13 35527362 35527362 single base substitution C T intron_variant MELA-AU 13 35527475 35527475 single base substitution G A intron_variant MELA-AU 13 35527529 35527529 single base substitution T C intron_variant MELA-AU 13 35527596 35527596 single base substitution C T intron_variant MELA-AU 13 35527675 35527675 single base substitution C T intron_variant MELA-AU 13 35527707 35527707 single base substitution C T intron_variant MELA-AU 13 35527923 35527923 single base substitution G A intron_variant MELA-AU 13 35527998 35527998 single base substitution C T intron_variant MELA-AU 13 35528044 35528044 single base substitution C T intron_variant MELA-AU 13 35528085 35528085 single base substitution C T intron_variant MELA-AU 13 35528360 35528360 single base substitution G A intron_variant MELA-AU 13 35528386 35528387 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35528407 35528407 single base substitution C T intron_variant MELA-AU 13 35528501 35528501 single base substitution A G intron_variant MELA-AU 13 35528651 35528651 single base substitution C T intron_variant MELA-AU 13 35528652 35528652 single base substitution T G intron_variant MELA-AU 13 35528672 35528672 single base substitution T C intron_variant MELA-AU 13 35528743 35528743 single base substitution C T intron_variant MELA-AU 13 35528753 35528753 single base substitution C T intron_variant MELA-AU 13 35528756 35528756 single base substitution G A intron_variant MELA-AU 13 35528793 35528793 single base substitution C T intron_variant MELA-AU 13 35528873 35528873 single base substitution C T intron_variant MELA-AU 13 35528876 35528876 single base substitution C T intron_variant MELA-AU 13 35529518 35529518 single base substitution G A intron_variant MELA-AU 13 35529767 35529767 single base substitution G A intron_variant MELA-AU 13 35529835 35529835 single base substitution C T intron_variant MELA-AU 13 35529903 35529903 single base substitution C T intron_variant MELA-AU 13 35530026 35530026 single base substitution C T intron_variant MELA-AU 13 35530054 35530054 single base substitution G A intron_variant MELA-AU 13 35530069 35530069 single base substitution A C intron_variant MELA-AU 13 35530911 35530911 single base substitution C T intron_variant MELA-AU 13 35530957 35530957 single base substitution C T intron_variant MELA-AU 13 35531022 35531022 single base substitution G A intron_variant MELA-AU 13 35531123 35531123 single base substitution C T intron_variant MELA-AU 13 35531129 35531129 single base substitution C T intron_variant MELA-AU 13 35531246 35531246 single base substitution C T intron_variant MELA-AU 13 35531283 35531283 single base substitution C T intron_variant MELA-AU 13 35531444 35531444 single base substitution C T intron_variant MELA-AU 13 35531559 35531559 single base substitution C T intron_variant MELA-AU 13 35531676 35531676 single base substitution C T intron_variant MELA-AU 13 35532137 35532137 single base substitution A G intron_variant MELA-AU 13 35532505 35532505 single base substitution G A intron_variant MELA-AU 13 35532580 35532580 single base substitution G A intron_variant MELA-AU 13 35532690 35532690 single base substitution G A intron_variant MELA-AU 13 35532858 35532858 single base substitution G A intron_variant MELA-AU 13 35533028 35533028 single base substitution C T intron_variant MELA-AU 13 35533220 35533220 single base substitution G A intron_variant MELA-AU 13 35533345 35533345 single base substitution C T intron_variant MELA-AU 13 35533381 35533381 single base substitution A G intron_variant MELA-AU 13 35533409 35533409 single base substitution T G intron_variant MELA-AU 13 35533418 35533418 single base substitution C T intron_variant MELA-AU 13 35533614 35533614 single base substitution C T intron_variant MELA-AU 13 35533625 35533625 single base substitution C T intron_variant MELA-AU 13 35533789 35533789 single base substitution G A intron_variant MELA-AU 13 35533812 35533812 single base substitution T C intron_variant MELA-AU 13 35534306 35534306 single base substitution C T intron_variant MELA-AU 13 35534448 35534448 single base substitution T C intron_variant MELA-AU 13 35534697 35534697 single base substitution T G intron_variant MELA-AU 13 35534895 35534895 single base substitution T A intron_variant MELA-AU 13 35534982 35534982 single base substitution G A intron_variant MELA-AU 13 35535158 35535158 single base substitution G A intron_variant MELA-AU 13 35535168 35535168 single base substitution G A intron_variant MELA-AU 13 35535408 35535408 single base substitution C T intron_variant MELA-AU 13 35535493 35535493 single base substitution C G intron_variant MELA-AU 13 35535704 35535704 single base substitution C T intron_variant MELA-AU 13 35535745 35535745 single base substitution A G intron_variant MELA-AU 13 35535965 35535965 single base substitution G A intron_variant MELA-AU 13 35536393 35536393 single base substitution T A intron_variant MELA-AU 13 35536614 35536614 single base substitution G A intron_variant MELA-AU 13 35537204 35537204 single base substitution C T intron_variant MELA-AU 13 35537213 35537213 single base substitution G A intron_variant MELA-AU 13 35537378 35537378 single base substitution C T intron_variant MELA-AU 13 35537419 35537419 single base substitution C T intron_variant MELA-AU 13 35537645 35537645 single base substitution G C intron_variant MELA-AU 13 35537651 35537651 single base substitution G A intron_variant MELA-AU 13 35537823 35537823 single base substitution C T intron_variant MELA-AU 13 35537849 35537849 single base substitution C T intron_variant MELA-AU 13 35537916 35537916 single base substitution C T intron_variant MELA-AU 13 35538057 35538057 single base substitution C T intron_variant MELA-AU 13 35538154 35538154 single base substitution G A intron_variant MELA-AU 13 35538159 35538159 single base substitution A C intron_variant MELA-AU 13 35538164 35538164 single base substitution T G intron_variant MELA-AU 13 35538262 35538262 single base substitution A G intron_variant MELA-AU 13 35538462 35538462 single base substitution C T intron_variant MELA-AU 13 35538723 35538723 single base substitution T C intron_variant MELA-AU 13 35538846 35538846 single base substitution G A intron_variant MELA-AU 13 35538944 35538944 single base substitution G A intron_variant MELA-AU 13 35539036 35539036 single base substitution C T intron_variant MELA-AU 13 35539334 35539334 single base substitution A G intron_variant MELA-AU 13 35539351 35539351 single base substitution G A intron_variant MELA-AU 13 35539416 35539416 single base substitution T A intron_variant MELA-AU 13 35539433 35539433 single base substitution A T intron_variant MELA-AU 13 35539713 35539713 single base substitution C T intron_variant MELA-AU 13 35539743 35539743 single base substitution C T intron_variant MELA-AU 13 35539786 35539786 single base substitution C T intron_variant MELA-AU 13 35539819 35539819 single base substitution G A intron_variant MELA-AU 13 35540299 35540299 single base substitution G A intron_variant MELA-AU 13 35540418 35540418 single base substitution C T intron_variant MELA-AU 13 35540453 35540453 single base substitution G A intron_variant MELA-AU 13 35540713 35540713 single base substitution C T intron_variant MELA-AU 13 35540787 35540787 single base substitution C G intron_variant MELA-AU 13 35540987 35540987 single base substitution G A intron_variant MELA-AU 13 35541012 35541012 single base substitution T C intron_variant MELA-AU 13 35541126 35541126 single base substitution T A intron_variant MELA-AU 13 35541399 35541399 single base substitution A T intron_variant MELA-AU 13 35541884 35541884 single base substitution G A intron_variant MELA-AU 13 35542165 35542165 single base substitution C T intron_variant MELA-AU 13 35542182 35542182 single base substitution C T intron_variant MELA-AU 13 35542243 35542243 single base substitution G A intron_variant MELA-AU 13 35542392 35542392 single base substitution G T intron_variant MELA-AU 13 35542435 35542435 single base substitution G A intron_variant MELA-AU 13 35542566 35542566 single base substitution G A intron_variant MELA-AU 13 35542626 35542626 single base substitution G A intron_variant MELA-AU 13 35543194 35543194 single base substitution C T intron_variant MELA-AU 13 35543376 35543376 single base substitution C T intron_variant MELA-AU 13 35543483 35543483 single base substitution C T intron_variant MELA-AU 13 35543636 35543636 single base substitution C T intron_variant MELA-AU 13 35543773 35543773 single base substitution G A intron_variant MELA-AU 13 35543956 35543956 single base substitution C T intron_variant MELA-AU 13 35544193 35544193 single base substitution C T intron_variant MELA-AU 13 35544307 35544307 single base substitution G A intron_variant MELA-AU 13 35544574 35544574 single base substitution C T intron_variant MELA-AU 13 35544782 35544782 single base substitution C T intron_variant MELA-AU 13 35544785 35544785 single base substitution C T intron_variant MELA-AU 13 35544811 35544811 single base substitution G A intron_variant MELA-AU 13 35544838 35544838 single base substitution C T intron_variant MELA-AU 13 35545013 35545013 single base substitution G T intron_variant MELA-AU 13 35545145 35545145 single base substitution G T intron_variant MELA-AU 13 35545333 35545333 single base substitution G A intron_variant MELA-AU 13 35545377 35545377 single base substitution C T intron_variant MELA-AU 13 35545534 35545534 single base substitution G A intron_variant MELA-AU 13 35545695 35545695 single base substitution C T intron_variant MELA-AU 13 35546014 35546014 single base substitution C T intron_variant MELA-AU 13 35546067 35546067 single base substitution C T intron_variant MELA-AU 13 35546174 35546174 single base substitution G A intron_variant MELA-AU 13 35546288 35546288 single base substitution G A intron_variant MELA-AU 13 35546531 35546531 single base substitution C T intron_variant MELA-AU 13 35546733 35546733 single base substitution T A intron_variant MELA-AU 13 35546737 35546737 single base substitution G A intron_variant MELA-AU 13 35546755 35546755 single base substitution C T intron_variant MELA-AU 13 35546888 35546888 single base substitution C T intron_variant MELA-AU 13 35546972 35546972 single base substitution C T intron_variant MELA-AU 13 35547408 35547408 single base substitution G A intron_variant MELA-AU 13 35547416 35547416 single base substitution A C intron_variant MELA-AU 13 35547433 35547433 single base substitution G A intron_variant MELA-AU 13 35547573 35547573 single base substitution C T intron_variant MELA-AU 13 35547574 35547574 single base substitution C T intron_variant MELA-AU 13 35547608 35547608 single base substitution C T intron_variant MELA-AU 13 35547725 35547725 single base substitution G T intron_variant MELA-AU 13 35547733 35547733 single base substitution C T intron_variant MELA-AU 13 35547793 35547794 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35547794 35547794 single base substitution C T intron_variant MELA-AU 13 35547848 35547848 single base substitution G A intron_variant MELA-AU 13 35547861 35547862 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 13 35547972 35547972 single base substitution G A intron_variant MELA-AU 13 35548146 35548146 single base substitution C T intron_variant MELA-AU 13 35548291 35548291 single base substitution C T intron_variant MELA-AU 13 35548333 35548333 single base substitution C T intron_variant MELA-AU 13 35548343 35548343 single base substitution C T intron_variant MELA-AU 13 35548393 35548393 single base substitution C T intron_variant MELA-AU 13 35548415 35548415 single base substitution G A intron_variant MELA-AU 13 35548451 35548451 single base substitution G A intron_variant MELA-AU 13 35548759 35548759 single base substitution C T intron_variant MELA-AU 13 35549075 35549075 single base substitution A T intron_variant MELA-AU 13 35549151 35549151 single base substitution C T intron_variant MELA-AU 13 35549213 35549213 single base substitution C T intron_variant MELA-AU 13 35549579 35549579 single base substitution C T intron_variant MELA-AU 13 35549670 35549670 single base substitution C T intron_variant MELA-AU 13 35549797 35549797 single base substitution G A intron_variant MELA-AU 13 35550030 35550030 single base substitution G A intron_variant MELA-AU 13 35550157 35550157 single base substitution C T intron_variant MELA-AU 13 35550201 35550201 single base substitution C T intron_variant MELA-AU 13 35550301 35550301 single base substitution G A intron_variant MELA-AU 13 35550392 35550392 single base substitution G A intron_variant MELA-AU 13 35550524 35550524 single base substitution C T intron_variant MELA-AU 13 35550532 35550532 single base substitution G A intron_variant MELA-AU 13 35550714 35550714 single base substitution A T intron_variant MELA-AU 13 35551006 35551006 single base substitution G A intron_variant MELA-AU 13 35551144 35551144 single base substitution C T intron_variant MELA-AU 13 35551433 35551433 single base substitution G A intron_variant MELA-AU 13 35551707 35551707 single base substitution A T intron_variant MELA-AU 13 35551731 35551731 single base substitution C T intron_variant MELA-AU 13 35551839 35551840 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35551954 35551954 single base substitution A G intron_variant MELA-AU 13 35552001 35552001 single base substitution G A intron_variant MELA-AU 13 35552078 35552078 single base substitution G A intron_variant MELA-AU 13 35552189 35552189 single base substitution C T intron_variant MELA-AU 13 35552341 35552341 single base substitution G A intron_variant MELA-AU 13 35552401 35552401 single base substitution C T intron_variant MELA-AU 13 35552536 35552536 single base substitution C T intron_variant MELA-AU 13 35552621 35552621 single base substitution C T intron_variant MELA-AU 13 35552623 35552623 single base substitution C T intron_variant MELA-AU 13 35552660 35552660 single base substitution C T intron_variant MELA-AU 13 35552786 35552786 single base substitution T G intron_variant MELA-AU 13 35552795 35552795 single base substitution C T intron_variant MELA-AU 13 35553053 35553053 single base substitution C T intron_variant MELA-AU 13 35553167 35553167 single base substitution C T intron_variant MELA-AU 13 35553246 35553246 single base substitution C T intron_variant MELA-AU 13 35553348 35553348 single base substitution C A intron_variant MELA-AU 13 35553348 35553348 single base substitution C T intron_variant MELA-AU 13 35553671 35553671 single base substitution G A intron_variant MELA-AU 13 35553684 35553684 single base substitution C T intron_variant MELA-AU 13 35553752 35553752 single base substitution C T intron_variant MELA-AU 13 35553789 35553789 single base substitution G A intron_variant MELA-AU 13 35553790 35553790 single base substitution G A intron_variant MELA-AU 13 35553840 35553840 single base substitution C T intron_variant MELA-AU 13 35553929 35553929 single base substitution C T intron_variant MELA-AU 13 35554068 35554068 single base substitution C T intron_variant MELA-AU 13 35554278 35554278 single base substitution C T intron_variant MELA-AU 13 35554419 35554419 single base substitution A T intron_variant MELA-AU 13 35554467 35554467 single base substitution C T intron_variant MELA-AU 13 35554830 35554830 single base substitution G A intron_variant MELA-AU 13 35554850 35554850 single base substitution C T intron_variant MELA-AU 13 35554924 35554924 single base substitution C T intron_variant MELA-AU 13 35554930 35554930 single base substitution C T intron_variant MELA-AU 13 35555370 35555370 single base substitution C T intron_variant MELA-AU 13 35555420 35555420 single base substitution C T intron_variant MELA-AU 13 35555427 35555427 single base substitution C T intron_variant MELA-AU 13 35555780 35555780 single base substitution C T intron_variant MELA-AU 13 35556184 35556184 single base substitution C T intron_variant MELA-AU 13 35556383 35556383 single base substitution C T intron_variant MELA-AU 13 35556570 35556570 single base substitution G A intron_variant MELA-AU 13 35556641 35556641 single base substitution T C intron_variant MELA-AU 13 35556828 35556828 single base substitution C T intron_variant MELA-AU 13 35557145 35557145 single base substitution C T intron_variant MELA-AU 13 35557303 35557303 single base substitution C T intron_variant MELA-AU 13 35557305 35557305 single base substitution C T intron_variant MELA-AU 13 35557346 35557346 single base substitution C T intron_variant MELA-AU 13 35557347 35557347 single base substitution C T intron_variant MELA-AU 13 35557359 35557359 single base substitution C T intron_variant MELA-AU 13 35557360 35557360 single base substitution C T intron_variant MELA-AU 13 35557495 35557495 single base substitution C T intron_variant MELA-AU 13 35557517 35557517 single base substitution C G intron_variant MELA-AU 13 35557698 35557698 single base substitution G A intron_variant MELA-AU 13 35557791 35557791 single base substitution C T intron_variant MELA-AU 13 35557847 35557847 single base substitution C T intron_variant MELA-AU 13 35557928 35557928 single base substitution C T intron_variant MELA-AU 13 35558092 35558092 single base substitution C T intron_variant MELA-AU 13 35558149 35558149 single base substitution C T intron_variant MELA-AU 13 35558288 35558289 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35558318 35558318 single base substitution A G intron_variant MELA-AU 13 35558361 35558361 single base substitution G A intron_variant MELA-AU 13 35558514 35558514 single base substitution G A intron_variant MELA-AU 13 35558684 35558684 single base substitution G A intron_variant MELA-AU 13 35558848 35558848 single base substitution C T intron_variant MELA-AU 13 35558947 35558947 single base substitution G A intron_variant MELA-AU 13 35559147 35559147 single base substitution C T intron_variant MELA-AU 13 35559525 35559525 single base substitution C T intron_variant MELA-AU 13 35559936 35559936 single base substitution C T intron_variant MELA-AU 13 35559986 35559986 single base substitution G A intron_variant MELA-AU 13 35560020 35560020 single base substitution C T intron_variant MELA-AU 13 35560069 35560069 single base substitution C T intron_variant MELA-AU 13 35560247 35560247 single base substitution C T intron_variant MELA-AU 13 35560286 35560286 single base substitution C T intron_variant MELA-AU 13 35560421 35560421 single base substitution C T intron_variant MELA-AU 13 35560558 35560558 single base substitution C T intron_variant MELA-AU 13 35560724 35560725 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35560992 35560992 single base substitution C T intron_variant MELA-AU 13 35561020 35561020 single base substitution C T intron_variant MELA-AU 13 35561112 35561112 single base substitution C T intron_variant MELA-AU 13 35561233 35561233 single base substitution C T intron_variant MELA-AU 13 35561414 35561414 single base substitution G A intron_variant MELA-AU 13 35561441 35561441 single base substitution G A intron_variant MELA-AU 13 35561570 35561570 single base substitution C T intron_variant MELA-AU 13 35561612 35561612 single base substitution G A intron_variant MELA-AU 13 35561747 35561747 single base substitution C T intron_variant MELA-AU 13 35561801 35561801 single base substitution C T intron_variant MELA-AU 13 35561814 35561814 single base substitution G A intron_variant MELA-AU 13 35561846 35561846 single base substitution C T intron_variant MELA-AU 13 35562028 35562028 single base substitution C T intron_variant MELA-AU 13 35562092 35562092 single base substitution G A intron_variant MELA-AU 13 35562107 35562107 single base substitution T G intron_variant MELA-AU 13 35562193 35562193 single base substitution C T intron_variant MELA-AU 13 35562434 35562434 single base substitution C T intron_variant MELA-AU 13 35562719 35562719 single base substitution G A intron_variant MELA-AU 13 35562809 35562809 single base substitution G A intron_variant MELA-AU 13 35562842 35562842 single base substitution G T intron_variant MELA-AU 13 35562887 35562887 single base substitution T C intron_variant MELA-AU 13 35563051 35563051 single base substitution G A intron_variant MELA-AU 13 35563165 35563165 single base substitution C T intron_variant MELA-AU 13 35563202 35563202 single base substitution C T intron_variant MELA-AU 13 35563331 35563331 single base substitution C T intron_variant MELA-AU 13 35563360 35563360 single base substitution C T intron_variant MELA-AU 13 35563489 35563489 single base substitution C T intron_variant MELA-AU 13 35563490 35563490 single base substitution G A intron_variant MELA-AU 13 35563540 35563540 single base substitution G A intron_variant MELA-AU 13 35563611 35563611 single base substitution T G intron_variant MELA-AU 13 35563690 35563690 single base substitution C T intron_variant MELA-AU 13 35563725 35563725 single base substitution C T intron_variant MELA-AU 13 35563795 35563795 single base substitution C T intron_variant MELA-AU 13 35563908 35563908 single base substitution G A intron_variant MELA-AU 13 35564317 35564317 single base substitution G A intron_variant MELA-AU 13 35564401 35564401 single base substitution C T intron_variant MELA-AU 13 35564467 35564467 single base substitution C T intron_variant MELA-AU 13 35564476 35564476 single base substitution T C intron_variant MELA-AU 13 35564508 35564508 single base substitution A G intron_variant MELA-AU 13 35564737 35564737 single base substitution C T intron_variant MELA-AU 13 35564817 35564817 single base substitution C T intron_variant MELA-AU 13 35564896 35564896 single base substitution C T intron_variant MELA-AU 13 35565036 35565036 single base substitution A T intron_variant MELA-AU 13 35565160 35565160 single base substitution C T intron_variant MELA-AU 13 35565200 35565200 single base substitution C T intron_variant MELA-AU 13 35565518 35565518 single base substitution G A intron_variant MELA-AU 13 35565793 35565793 single base substitution A T intron_variant MELA-AU 13 35565915 35565915 single base substitution C T intron_variant MELA-AU 13 35566302 35566302 single base substitution G A intron_variant MELA-AU 13 35566379 35566379 single base substitution A G intron_variant MELA-AU 13 35566401 35566401 single base substitution T A intron_variant MELA-AU 13 35566501 35566501 single base substitution C T intron_variant MELA-AU 13 35566569 35566569 single base substitution T A intron_variant MELA-AU 13 35566575 35566575 single base substitution G A intron_variant MELA-AU 13 35566677 35566677 single base substitution G A intron_variant MELA-AU 13 35566685 35566685 single base substitution G A intron_variant MELA-AU 13 35566908 35566908 single base substitution C T intron_variant MELA-AU 13 35567018 35567018 single base substitution C T intron_variant MELA-AU 13 35567280 35567280 single base substitution C T intron_variant MELA-AU 13 35567285 35567286 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35567338 35567338 single base substitution C T intron_variant MELA-AU 13 35567357 35567357 single base substitution C T intron_variant MELA-AU 13 35567403 35567403 single base substitution G A intron_variant MELA-AU 13 35567413 35567413 single base substitution G A intron_variant MELA-AU 13 35567508 35567508 single base substitution C T intron_variant MELA-AU 13 35567646 35567646 single base substitution G A intron_variant MELA-AU 13 35567789 35567789 single base substitution C T intron_variant MELA-AU 13 35567958 35567958 single base substitution C T intron_variant MELA-AU 13 35568070 35568070 single base substitution C T intron_variant MELA-AU 13 35568163 35568163 single base substitution C T intron_variant MELA-AU 13 35568212 35568212 single base substitution G A intron_variant MELA-AU 13 35568242 35568242 single base substitution G A intron_variant MELA-AU 13 35568272 35568272 single base substitution T C intron_variant MELA-AU 13 35568324 35568324 single base substitution G A intron_variant MELA-AU 13 35568390 35568390 single base substitution G A intron_variant MELA-AU 13 35568580 35568580 single base substitution G A intron_variant MELA-AU 13 35568581 35568581 single base substitution G A intron_variant MELA-AU 13 35568641 35568641 single base substitution G A intron_variant MELA-AU 13 35568665 35568665 single base substitution C A intron_variant MELA-AU 13 35568755 35568755 single base substitution G A intron_variant MELA-AU 13 35569004 35569004 single base substitution C T intron_variant MELA-AU 13 35569115 35569115 single base substitution G A intron_variant MELA-AU 13 35569153 35569153 single base substitution G A intron_variant MELA-AU 13 35569177 35569177 single base substitution C T intron_variant MELA-AU 13 35569233 35569233 single base substitution G A intron_variant MELA-AU 13 35569300 35569300 single base substitution G A intron_variant MELA-AU 13 35569337 35569337 single base substitution C T intron_variant MELA-AU 13 35569363 35569363 single base substitution G A intron_variant MELA-AU 13 35569585 35569585 single base substitution A G intron_variant MELA-AU 13 35569949 35569949 single base substitution C T intron_variant MELA-AU 13 35570421 35570421 single base substitution T C intron_variant MELA-AU 13 35570742 35570742 single base substitution G A intron_variant MELA-AU 13 35570748 35570748 single base substitution T C intron_variant MELA-AU 13 35570763 35570763 single base substitution C T intron_variant MELA-AU 13 35570833 35570833 single base substitution A T intron_variant MELA-AU 13 35571189 35571189 single base substitution C T intron_variant MELA-AU 13 35571233 35571233 single base substitution C T intron_variant MELA-AU 13 35571472 35571472 single base substitution G A intron_variant MELA-AU 13 35571480 35571480 single base substitution C T intron_variant MELA-AU 13 35571481 35571481 single base substitution G A intron_variant MELA-AU 13 35571507 35571507 single base substitution C T intron_variant MELA-AU 13 35571516 35571516 single base substitution A T intron_variant MELA-AU 13 35571633 35571633 single base substitution C T intron_variant MELA-AU 13 35571704 35571704 single base substitution G A intron_variant MELA-AU 13 35571824 35571824 single base substitution C T intron_variant MELA-AU 13 35571959 35571959 single base substitution G A intron_variant MELA-AU 13 35571981 35571981 single base substitution C T intron_variant MELA-AU 13 35572095 35572095 single base substitution G A intron_variant MELA-AU 13 35572241 35572241 single base substitution A T intron_variant MELA-AU 13 35572272 35572272 single base substitution C T intron_variant MELA-AU 13 35572389 35572389 single base substitution C T intron_variant MELA-AU 13 35572407 35572407 single base substitution C T intron_variant MELA-AU 13 35572412 35572412 single base substitution G A intron_variant MELA-AU 13 35572573 35572573 single base substitution C T intron_variant MELA-AU 13 35572580 35572580 single base substitution C T intron_variant MELA-AU 13 35572638 35572638 single base substitution C A intron_variant MELA-AU 13 35572942 35572942 single base substitution C T intron_variant MELA-AU 13 35572961 35572961 single base substitution C T intron_variant MELA-AU 13 35572968 35572968 single base substitution T C intron_variant MELA-AU 13 35573201 35573201 single base substitution C T intron_variant MELA-AU 13 35573506 35573506 single base substitution C T intron_variant MELA-AU 13 35573610 35573610 single base substitution C T intron_variant MELA-AU 13 35573654 35573654 single base substitution C T intron_variant MELA-AU 13 35573702 35573702 single base substitution C T intron_variant MELA-AU 13 35573717 35573717 single base substitution T A intron_variant MELA-AU 13 35573842 35573842 single base substitution T C intron_variant MELA-AU 13 35573854 35573854 single base substitution C T intron_variant MELA-AU 13 35573918 35573918 single base substitution G A intron_variant MELA-AU 13 35574099 35574099 single base substitution C T intron_variant MELA-AU 13 35574273 35574273 single base substitution G A intron_variant MELA-AU 13 35574313 35574313 single base substitution G A intron_variant MELA-AU 13 35574524 35574524 single base substitution G A intron_variant MELA-AU 13 35574786 35574786 single base substitution C T intron_variant MELA-AU 13 35574820 35574820 single base substitution A T intron_variant MELA-AU 13 35574863 35574863 single base substitution G A intron_variant MELA-AU 13 35574905 35574905 single base substitution A T intron_variant MELA-AU 13 35574916 35574916 single base substitution C G intron_variant MELA-AU 13 35574974 35574974 single base substitution C T intron_variant MELA-AU 13 35575623 35575623 single base substitution G C intron_variant MELA-AU 13 35575630 35575630 single base substitution A G intron_variant MELA-AU 13 35575669 35575669 single base substitution G A intron_variant MELA-AU 13 35575697 35575697 single base substitution G A intron_variant MELA-AU 13 35575721 35575721 single base substitution C T intron_variant MELA-AU 13 35575818 35575818 single base substitution G A intron_variant MELA-AU 13 35575933 35575933 single base substitution G C intron_variant MELA-AU 13 35576109 35576109 single base substitution C T intron_variant MELA-AU 13 35576161 35576161 single base substitution G A intron_variant MELA-AU 13 35576191 35576191 single base substitution G A intron_variant MELA-AU 13 35576206 35576206 single base substitution G A intron_variant MELA-AU 13 35576226 35576226 single base substitution A G intron_variant MELA-AU 13 35576274 35576274 single base substitution G A intron_variant MELA-AU 13 35576392 35576392 single base substitution C T intron_variant MELA-AU 13 35576399 35576400 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 13 35576416 35576416 single base substitution C A intron_variant MELA-AU 13 35576447 35576447 single base substitution G A intron_variant MELA-AU 13 35576479 35576479 single base substitution C T intron_variant MELA-AU 13 35576508 35576508 single base substitution G A intron_variant MELA-AU 13 35576655 35576655 single base substitution C T intron_variant MELA-AU 13 35577065 35577065 single base substitution C T intron_variant MELA-AU 13 35577128 35577128 single base substitution G A intron_variant MELA-AU 13 35577136 35577136 single base substitution C T intron_variant MELA-AU 13 35577206 35577206 single base substitution C T intron_variant MELA-AU 13 35577272 35577272 single base substitution G A intron_variant MELA-AU 13 35577281 35577281 single base substitution T C intron_variant MELA-AU 13 35577360 35577360 single base substitution A C intron_variant MELA-AU 13 35577826 35577826 single base substitution G A intron_variant MELA-AU 13 35578030 35578030 single base substitution A G intron_variant MELA-AU 13 35578086 35578086 single base substitution T G intron_variant MELA-AU 13 35578199 35578199 single base substitution G A intron_variant MELA-AU 13 35578282 35578282 single base substitution T A intron_variant MELA-AU 13 35578338 35578338 single base substitution C T intron_variant MELA-AU 13 35578415 35578415 single base substitution C T intron_variant MELA-AU 13 35578527 35578527 single base substitution C T intron_variant MELA-AU 13 35578720 35578720 single base substitution C T intron_variant MELA-AU 13 35578818 35578818 single base substitution A T intron_variant MELA-AU 13 35578919 35578919 single base substitution G T intron_variant MELA-AU 13 35579093 35579093 single base substitution A C intron_variant MELA-AU 13 35579242 35579242 single base substitution C T intron_variant MELA-AU 13 35579393 35579393 single base substitution C T intron_variant MELA-AU 13 35579472 35579472 single base substitution C T intron_variant MELA-AU 13 35579530 35579530 single base substitution C T intron_variant MELA-AU 13 35579608 35579608 single base substitution C T intron_variant MELA-AU 13 35579878 35579878 single base substitution G A intron_variant MELA-AU 13 35579893 35579893 single base substitution G A intron_variant MELA-AU 13 35580024 35580024 single base substitution A G intron_variant MELA-AU 13 35580074 35580074 single base substitution C G intron_variant MELA-AU 13 35580217 35580217 single base substitution C T intron_variant MELA-AU 13 35580232 35580232 single base substitution G A intron_variant MELA-AU 13 35580356 35580356 single base substitution G A intron_variant MELA-AU 13 35580357 35580357 single base substitution G A intron_variant MELA-AU 13 35580541 35580541 single base substitution C T intron_variant MELA-AU 13 35580596 35580596 single base substitution C T intron_variant MELA-AU 13 35580664 35580664 single base substitution C T intron_variant MELA-AU 13 35580676 35580676 single base substitution C T intron_variant MELA-AU 13 35580699 35580699 single base substitution C T intron_variant MELA-AU 13 35580716 35580716 single base substitution C T intron_variant MELA-AU 13 35580756 35580756 single base substitution T C intron_variant MELA-AU 13 35580959 35580959 single base substitution G A intron_variant MELA-AU 13 35580991 35580991 single base substitution G A intron_variant MELA-AU 13 35580993 35580993 single base substitution G A intron_variant MELA-AU 13 35581055 35581055 single base substitution G A intron_variant MELA-AU 13 35581115 35581115 single base substitution C T intron_variant MELA-AU 13 35581135 35581135 single base substitution C T intron_variant MELA-AU 13 35581198 35581198 single base substitution C T intron_variant MELA-AU 13 35581212 35581212 single base substitution A G intron_variant MELA-AU 13 35581261 35581261 single base substitution G A intron_variant MELA-AU 13 35581351 35581351 single base substitution C T intron_variant MELA-AU 13 35581356 35581356 single base substitution C T intron_variant MELA-AU 13 35581417 35581417 single base substitution C T intron_variant MELA-AU 13 35581443 35581443 single base substitution C T intron_variant MELA-AU 13 35581565 35581565 single base substitution G A intron_variant MELA-AU 13 35581589 35581589 single base substitution C T intron_variant MELA-AU 13 35581619 35581619 single base substitution C T intron_variant MELA-AU 13 35581646 35581646 single base substitution T C intron_variant MELA-AU 13 35581648 35581648 single base substitution G A intron_variant MELA-AU 13 35581663 35581663 single base substitution C T intron_variant MELA-AU 13 35581880 35581880 single base substitution T A intron_variant MELA-AU 13 35582047 35582047 single base substitution C T intron_variant MELA-AU 13 35582162 35582162 single base substitution C T intron_variant MELA-AU 13 35582204 35582204 single base substitution G A intron_variant MELA-AU 13 35582324 35582324 single base substitution G A intron_variant MELA-AU 13 35582400 35582400 single base substitution C T intron_variant MELA-AU 13 35582401 35582401 single base substitution C T intron_variant MELA-AU 13 35582461 35582461 single base substitution C T intron_variant MELA-AU 13 35582476 35582476 single base substitution G A intron_variant MELA-AU 13 35582605 35582605 single base substitution G A intron_variant MELA-AU 13 35582656 35582656 single base substitution C T intron_variant MELA-AU 13 35582727 35582727 single base substitution G A intron_variant MELA-AU 13 35582741 35582741 single base substitution C T intron_variant MELA-AU 13 35582806 35582806 single base substitution G A intron_variant MELA-AU 13 35582820 35582820 single base substitution C T intron_variant MELA-AU 13 35582828 35582828 single base substitution C T intron_variant MELA-AU 13 35582889 35582889 single base substitution C T intron_variant MELA-AU 13 35583026 35583026 single base substitution C A intron_variant MELA-AU 13 35583043 35583043 single base substitution C T intron_variant MELA-AU 13 35583052 35583052 single base substitution G A intron_variant MELA-AU 13 35583104 35583104 single base substitution G A intron_variant MELA-AU 13 35583182 35583182 single base substitution G A intron_variant MELA-AU 13 35583225 35583225 single base substitution C T intron_variant MELA-AU 13 35583238 35583238 single base substitution C T intron_variant MELA-AU 13 35583239 35583239 single base substitution C T intron_variant MELA-AU 13 35583249 35583249 single base substitution G A intron_variant MELA-AU 13 35583315 35583315 single base substitution G A intron_variant MELA-AU 13 35583316 35583316 single base substitution G A intron_variant MELA-AU 13 35583385 35583385 single base substitution T C intron_variant MELA-AU 13 35583451 35583451 single base substitution G A intron_variant MELA-AU 13 35583727 35583727 single base substitution C T intron_variant MELA-AU 13 35583930 35583930 single base substitution G A intron_variant MELA-AU 13 35583940 35583940 single base substitution C T intron_variant MELA-AU 13 35583985 35583985 single base substitution G A intron_variant MELA-AU 13 35584366 35584366 single base substitution G A intron_variant MELA-AU 13 35584378 35584378 single base substitution G A intron_variant MELA-AU 13 35584559 35584559 single base substitution G A intron_variant MELA-AU 13 35584755 35584755 single base substitution C T intron_variant MELA-AU 13 35584760 35584760 single base substitution C T intron_variant MELA-AU 13 35584797 35584797 single base substitution G A intron_variant MELA-AU 13 35585092 35585092 single base substitution G A intron_variant MELA-AU 13 35585151 35585151 single base substitution C T intron_variant MELA-AU 13 35585241 35585241 single base substitution G A intron_variant MELA-AU 13 35585289 35585289 single base substitution G A intron_variant MELA-AU 13 35585451 35585451 single base substitution G A intron_variant MELA-AU 13 35585771 35585771 single base substitution G A intron_variant MELA-AU 13 35586240 35586240 single base substitution C T intron_variant MELA-AU 13 35586383 35586383 single base substitution G A intron_variant MELA-AU 13 35586461 35586461 single base substitution G A intron_variant MELA-AU 13 35586755 35586755 single base substitution G A intron_variant MELA-AU 13 35587004 35587004 single base substitution G A intron_variant MELA-AU 13 35587039 35587039 single base substitution G A intron_variant MELA-AU 13 35587350 35587350 single base substitution G A intron_variant MELA-AU 13 35587443 35587443 single base substitution C T intron_variant MELA-AU 13 35587487 35587487 single base substitution G A intron_variant MELA-AU 13 35587573 35587573 single base substitution C T intron_variant MELA-AU 13 35587656 35587656 single base substitution G A intron_variant MELA-AU 13 35587795 35587796 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35587831 35587831 single base substitution C T intron_variant MELA-AU 13 35587839 35587839 single base substitution C T intron_variant MELA-AU 13 35587848 35587848 single base substitution C T intron_variant MELA-AU 13 35587966 35587966 single base substitution C T intron_variant MELA-AU 13 35588052 35588052 single base substitution C T intron_variant MELA-AU 13 35588087 35588087 single base substitution T G intron_variant MELA-AU 13 35588258 35588259 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35588405 35588405 single base substitution C T intron_variant MELA-AU 13 35588681 35588681 single base substitution G A intron_variant MELA-AU 13 35589257 35589257 single base substitution G A intron_variant MELA-AU 13 35589543 35589543 single base substitution G A intron_variant MELA-AU 13 35589567 35589567 single base substitution A G intron_variant MELA-AU 13 35589856 35589856 single base substitution A T intron_variant MELA-AU 13 35590858 35590858 single base substitution G A intron_variant MELA-AU 13 35590868 35590868 single base substitution G A intron_variant MELA-AU 13 35591204 35591204 single base substitution G A intron_variant MELA-AU 13 35591309 35591309 single base substitution G A intron_variant MELA-AU 13 35591330 35591330 single base substitution T C intron_variant MELA-AU 13 35591991 35591991 single base substitution C T intron_variant MELA-AU 13 35592004 35592004 single base substitution G A intron_variant MELA-AU 13 35592075 35592075 single base substitution C T intron_variant MELA-AU 13 35592094 35592094 single base substitution T A intron_variant MELA-AU 13 35592121 35592121 single base substitution T A intron_variant MELA-AU 13 35592291 35592291 single base substitution C T intron_variant MELA-AU 13 35592324 35592324 single base substitution C T intron_variant MELA-AU 13 35592409 35592409 single base substitution G T intron_variant MELA-AU 13 35592529 35592546 deletion of <=200bp TTTTCTCTTGTTATTATT - intron_variant MELA-AU 13 35592782 35592782 single base substitution C T intron_variant MELA-AU 13 35592882 35592882 single base substitution C T intron_variant MELA-AU 13 35593000 35593000 single base substitution G A intron_variant MELA-AU 13 35593223 35593223 single base substitution C T intron_variant MELA-AU 13 35593228 35593228 single base substitution G A intron_variant MELA-AU 13 35593289 35593289 single base substitution G A intron_variant MELA-AU 13 35593533 35593533 single base substitution C T intron_variant MELA-AU 13 35593656 35593656 single base substitution G A intron_variant MELA-AU 13 35593682 35593682 single base substitution T A intron_variant MELA-AU 13 35593757 35593757 single base substitution C T intron_variant MELA-AU 13 35593766 35593766 single base substitution C T intron_variant MELA-AU 13 35593921 35593921 single base substitution C T intron_variant MELA-AU 13 35593960 35593960 single base substitution C T intron_variant MELA-AU 13 35594133 35594133 single base substitution T C intron_variant MELA-AU 13 35594239 35594239 single base substitution G A intron_variant MELA-AU 13 35594361 35594361 single base substitution T A intron_variant MELA-AU 13 35594669 35594669 single base substitution T G intron_variant MELA-AU 13 35594686 35594686 single base substitution C T intron_variant MELA-AU 13 35594708 35594708 single base substitution G A intron_variant MELA-AU 13 35594719 35594719 single base substitution G A intron_variant MELA-AU 13 35594778 35594778 single base substitution C T intron_variant MELA-AU 13 35594789 35594789 single base substitution G A intron_variant MELA-AU 13 35594933 35594933 single base substitution G A intron_variant MELA-AU 13 35594938 35594938 single base substitution G A intron_variant MELA-AU 13 35594993 35594994 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35595067 35595067 single base substitution C T intron_variant MELA-AU 13 35595073 35595073 single base substitution C T intron_variant MELA-AU 13 35595275 35595275 single base substitution G A intron_variant MELA-AU 13 35595345 35595345 single base substitution G A intron_variant MELA-AU 13 35595403 35595403 single base substitution G A intron_variant MELA-AU 13 35595538 35595538 single base substitution C T intron_variant MELA-AU 13 35595668 35595668 single base substitution C T intron_variant MELA-AU 13 35595675 35595675 single base substitution C T intron_variant MELA-AU 13 35595680 35595680 single base substitution C T intron_variant MELA-AU 13 35595783 35595783 single base substitution G A intron_variant MELA-AU 13 35595896 35595896 single base substitution C T intron_variant MELA-AU 13 35596020 35596020 single base substitution G A intron_variant MELA-AU 13 35596101 35596101 single base substitution C T intron_variant MELA-AU 13 35596194 35596194 single base substitution C T intron_variant MELA-AU 13 35596213 35596213 single base substitution G A intron_variant MELA-AU 13 35596274 35596274 single base substitution C T intron_variant MELA-AU 13 35596333 35596333 single base substitution C T intron_variant MELA-AU 13 35596377 35596377 single base substitution G A intron_variant MELA-AU 13 35596383 35596383 single base substitution G A intron_variant MELA-AU 13 35596454 35596454 single base substitution C T intron_variant MELA-AU 13 35596464 35596464 single base substitution C T intron_variant MELA-AU 13 35596465 35596465 single base substitution C T intron_variant MELA-AU 13 35596763 35596763 single base substitution T C intron_variant MELA-AU 13 35596882 35596882 single base substitution G A intron_variant MELA-AU 13 35596922 35596922 single base substitution C T intron_variant MELA-AU 13 35597229 35597229 single base substitution G A intron_variant MELA-AU 13 35597271 35597271 single base substitution C T intron_variant MELA-AU 13 35597331 35597331 single base substitution T C intron_variant MELA-AU 13 35597543 35597543 single base substitution C T intron_variant MELA-AU 13 35597577 35597577 single base substitution C T intron_variant MELA-AU 13 35597624 35597624 single base substitution C T intron_variant MELA-AU 13 35597639 35597639 single base substitution G A intron_variant MELA-AU 13 35597877 35597877 single base substitution G A intron_variant MELA-AU 13 35597900 35597900 single base substitution G T intron_variant MELA-AU 13 35598134 35598134 single base substitution G A intron_variant MELA-AU 13 35598144 35598144 single base substitution C T intron_variant MELA-AU 13 35598218 35598218 single base substitution G A intron_variant MELA-AU 13 35598318 35598318 single base substitution G T intron_variant MELA-AU 13 35598476 35598476 single base substitution C T intron_variant MELA-AU 13 35598647 35598647 single base substitution G A intron_variant MELA-AU 13 35598699 35598699 single base substitution C T intron_variant MELA-AU 13 35598873 35598873 single base substitution C T intron_variant MELA-AU 13 35598878 35598878 single base substitution G A intron_variant MELA-AU 13 35599127 35599127 single base substitution C T intron_variant MELA-AU 13 35599190 35599190 single base substitution C T intron_variant MELA-AU 13 35599248 35599248 single base substitution C T intron_variant MELA-AU 13 35599344 35599344 single base substitution T C intron_variant MELA-AU 13 35599445 35599445 single base substitution G A intron_variant MELA-AU 13 35599568 35599568 single base substitution C T intron_variant MELA-AU 13 35599644 35599644 single base substitution A G intron_variant MELA-AU 13 35599667 35599667 single base substitution C T intron_variant MELA-AU 13 35599682 35599682 single base substitution T C intron_variant MELA-AU 13 35599787 35599787 single base substitution G A intron_variant MELA-AU 13 35599798 35599798 single base substitution A G intron_variant MELA-AU 13 35599806 35599806 single base substitution G A intron_variant MELA-AU 13 35599975 35599975 single base substitution G A intron_variant MELA-AU 13 35599995 35599995 single base substitution C T intron_variant MELA-AU 13 35600114 35600114 single base substitution G A intron_variant MELA-AU 13 35600215 35600215 single base substitution C T intron_variant MELA-AU 13 35600230 35600230 single base substitution C T intron_variant MELA-AU 13 35600301 35600301 single base substitution C T intron_variant MELA-AU 13 35600368 35600368 single base substitution C T intron_variant MELA-AU 13 35600823 35600823 single base substitution C T intron_variant MELA-AU 13 35600986 35600986 single base substitution A T intron_variant MELA-AU 13 35601129 35601129 single base substitution C T intron_variant MELA-AU 13 35601193 35601193 single base substitution C T intron_variant MELA-AU 13 35601631 35601631 single base substitution G A intron_variant MELA-AU 13 35601775 35601775 single base substitution C T intron_variant MELA-AU 13 35601796 35601796 single base substitution C T intron_variant MELA-AU 13 35601845 35601845 single base substitution C T intron_variant MELA-AU 13 35601856 35601856 single base substitution C T intron_variant MELA-AU 13 35601961 35601961 single base substitution A C intron_variant MELA-AU 13 35601970 35601970 single base substitution G C intron_variant MELA-AU 13 35602034 35602034 single base substitution G A intron_variant MELA-AU 13 35602081 35602081 single base substitution C T intron_variant MELA-AU 13 35602189 35602189 single base substitution C T intron_variant MELA-AU 13 35602353 35602353 single base substitution G A intron_variant MELA-AU 13 35602591 35602591 single base substitution C T intron_variant MELA-AU 13 35602756 35602756 single base substitution C T intron_variant MELA-AU 13 35602875 35602875 single base substitution C T intron_variant MELA-AU 13 35602918 35602918 single base substitution C T intron_variant MELA-AU 13 35602925 35602925 single base substitution C T intron_variant MELA-AU 13 35602939 35602939 single base substitution A G intron_variant MELA-AU 13 35603061 35603061 single base substitution C T intron_variant MELA-AU 13 35603091 35603091 single base substitution C T intron_variant MELA-AU 13 35603212 35603212 single base substitution C T intron_variant MELA-AU 13 35603234 35603234 single base substitution G A intron_variant MELA-AU 13 35603492 35603492 single base substitution G A intron_variant MELA-AU 13 35603651 35603651 single base substitution G A intron_variant MELA-AU 13 35603790 35603790 single base substitution C T intron_variant MELA-AU 13 35603894 35603894 single base substitution C T intron_variant MELA-AU 13 35604092 35604092 single base substitution C T intron_variant MELA-AU 13 35604223 35604223 single base substitution G A intron_variant MELA-AU 13 35604307 35604307 single base substitution C T intron_variant MELA-AU 13 35604392 35604392 single base substitution C T intron_variant MELA-AU 13 35604492 35604492 single base substitution C T intron_variant MELA-AU 13 35604531 35604531 single base substitution T C intron_variant MELA-AU 13 35604763 35604763 single base substitution T C intron_variant MELA-AU 13 35604802 35604802 single base substitution C T intron_variant MELA-AU 13 35604812 35604812 single base substitution G A intron_variant MELA-AU 13 35604946 35604946 single base substitution C T intron_variant MELA-AU 13 35605364 35605364 single base substitution G A intron_variant MELA-AU 13 35605453 35605453 single base substitution G A intron_variant MELA-AU 13 35605454 35605454 single base substitution G A intron_variant MELA-AU 13 35605542 35605542 single base substitution G A intron_variant MELA-AU 13 35605618 35605618 single base substitution G A intron_variant MELA-AU 13 35605647 35605647 single base substitution T C intron_variant MELA-AU 13 35606070 35606070 single base substitution G A intron_variant MELA-AU 13 35606093 35606093 single base substitution C T intron_variant MELA-AU 13 35606353 35606353 single base substitution G A intron_variant MELA-AU 13 35606605 35606605 single base substitution C T intron_variant MELA-AU 13 35606617 35606617 single base substitution C A intron_variant MELA-AU 13 35606851 35606851 single base substitution G A intron_variant MELA-AU 13 35607000 35607000 single base substitution C T intron_variant MELA-AU 13 35607033 35607033 single base substitution G A intron_variant MELA-AU 13 35607204 35607204 single base substitution G A intron_variant MELA-AU 13 35607238 35607238 single base substitution T C intron_variant MELA-AU 13 35607404 35607404 single base substitution T A intron_variant MELA-AU 13 35607406 35607406 single base substitution C T intron_variant MELA-AU 13 35607434 35607434 single base substitution G A intron_variant MELA-AU 13 35607436 35607436 single base substitution A G intron_variant MELA-AU 13 35607626 35607626 single base substitution G C intron_variant MELA-AU 13 35607838 35607838 single base substitution C T intron_variant MELA-AU 13 35607912 35607912 single base substitution G A intron_variant MELA-AU 13 35608041 35608041 single base substitution G A intron_variant MELA-AU 13 35608114 35608114 single base substitution C T intron_variant MELA-AU 13 35608120 35608120 single base substitution G A intron_variant MELA-AU 13 35608257 35608257 single base substitution C T intron_variant MELA-AU 13 35608356 35608356 single base substitution G T intron_variant MELA-AU 13 35608420 35608420 single base substitution T C intron_variant MELA-AU 13 35608422 35608422 single base substitution C T intron_variant MELA-AU 13 35608582 35608582 single base substitution C T intron_variant MELA-AU 13 35608679 35608679 single base substitution G A intron_variant MELA-AU 13 35608816 35608816 single base substitution G T intron_variant MELA-AU 13 35608859 35608859 single base substitution C T intron_variant MELA-AU 13 35608941 35608941 single base substitution C T intron_variant MELA-AU 13 35608988 35608988 single base substitution G A intron_variant MELA-AU 13 35609147 35609147 single base substitution C T intron_variant MELA-AU 13 35609329 35609329 single base substitution C T intron_variant MELA-AU 13 35609387 35609387 single base substitution C T intron_variant MELA-AU 13 35609531 35609531 single base substitution T A intron_variant MELA-AU 13 35609583 35609583 single base substitution C T intron_variant MELA-AU 13 35609603 35609603 single base substitution G A intron_variant MELA-AU 13 35609728 35609728 single base substitution C T intron_variant MELA-AU 13 35609735 35609735 single base substitution G A intron_variant MELA-AU 13 35609808 35609808 single base substitution C T intron_variant MELA-AU 13 35610176 35610176 single base substitution C T intron_variant MELA-AU 13 35610212 35610212 single base substitution G A intron_variant MELA-AU 13 35610239 35610239 single base substitution T C intron_variant MELA-AU 13 35610262 35610262 single base substitution G A intron_variant MELA-AU 13 35610324 35610324 single base substitution C T intron_variant MELA-AU 13 35610408 35610408 single base substitution A G intron_variant MELA-AU 13 35610442 35610442 single base substitution T A intron_variant MELA-AU 13 35610694 35610694 single base substitution C T intron_variant MELA-AU 13 35610723 35610723 single base substitution G A intron_variant MELA-AU 13 35610737 35610737 single base substitution C T intron_variant MELA-AU 13 35610833 35610833 single base substitution C T intron_variant MELA-AU 13 35611158 35611158 single base substitution G C intron_variant MELA-AU 13 35611203 35611203 single base substitution C T intron_variant MELA-AU 13 35611572 35611572 single base substitution T G intron_variant MELA-AU 13 35611862 35611862 single base substitution G A intron_variant MELA-AU 13 35612059 35612059 single base substitution C T intron_variant MELA-AU 13 35612108 35612108 single base substitution C T intron_variant MELA-AU 13 35612126 35612126 single base substitution T A intron_variant MELA-AU 13 35612152 35612152 single base substitution T G intron_variant MELA-AU 13 35612236 35612236 single base substitution C T intron_variant MELA-AU 13 35612244 35612244 single base substitution C T intron_variant MELA-AU 13 35612245 35612245 single base substitution C T intron_variant MELA-AU 13 35612251 35612251 single base substitution C T intron_variant MELA-AU 13 35612256 35612256 single base substitution G A intron_variant MELA-AU 13 35612377 35612377 single base substitution G A intron_variant MELA-AU 13 35612408 35612409 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35612465 35612465 single base substitution G A intron_variant MELA-AU 13 35612466 35612467 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35612530 35612530 single base substitution C T intron_variant MELA-AU 13 35612536 35612536 single base substitution C T intron_variant MELA-AU 13 35612564 35612564 single base substitution G A intron_variant MELA-AU 13 35612568 35612569 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35612569 35612569 single base substitution G A intron_variant MELA-AU 13 35612611 35612611 single base substitution C T intron_variant MELA-AU 13 35612616 35612616 single base substitution C T intron_variant MELA-AU 13 35612664 35612664 single base substitution C T intron_variant MELA-AU 13 35612680 35612680 single base substitution G A intron_variant MELA-AU 13 35612744 35612744 single base substitution C T intron_variant MELA-AU 13 35612763 35612763 single base substitution C T intron_variant MELA-AU 13 35612900 35612900 single base substitution C T intron_variant MELA-AU 13 35612969 35612969 single base substitution G A intron_variant MELA-AU 13 35613039 35613039 single base substitution C T intron_variant MELA-AU 13 35613056 35613056 single base substitution G A intron_variant MELA-AU 13 35613127 35613127 single base substitution C T intron_variant MELA-AU 13 35613322 35613322 single base substitution C T intron_variant MELA-AU 13 35613379 35613379 single base substitution G A intron_variant MELA-AU 13 35613800 35613800 single base substitution C T intron_variant MELA-AU 13 35613976 35613976 single base substitution C T intron_variant MELA-AU 13 35614122 35614122 single base substitution G A intron_variant MELA-AU 13 35614232 35614232 single base substitution C T intron_variant MELA-AU 13 35614239 35614239 single base substitution C T intron_variant MELA-AU 13 35614333 35614333 single base substitution C T intron_variant MELA-AU 13 35614351 35614351 single base substitution G A intron_variant MELA-AU 13 35614576 35614576 single base substitution C T intron_variant MELA-AU 13 35614694 35614694 single base substitution G A intron_variant MELA-AU 13 35614714 35614714 single base substitution T C intron_variant MELA-AU 13 35614729 35614729 single base substitution C T intron_variant MELA-AU 13 35614958 35614958 single base substitution G A intron_variant MELA-AU 13 35615002 35615002 single base substitution T A intron_variant MELA-AU 13 35615008 35615008 single base substitution C T intron_variant MELA-AU 13 35615099 35615099 single base substitution G A missense_variant M108I 324G>A MELA-AU 13 35615151 35615151 single base substitution G A missense_variant E126K 376G>A MELA-AU 13 35615209 35615209 single base substitution G A missense_variant R145Q 434G>A MELA-AU 13 35615320 35615320 single base substitution G A intron_variant MELA-AU 13 35615945 35615945 single base substitution C T intron_variant MELA-AU 13 35616313 35616313 single base substitution C T intron_variant MELA-AU 13 35616323 35616323 single base substitution G A intron_variant MELA-AU 13 35616434 35616434 single base substitution G A intron_variant MELA-AU 13 35616503 35616503 single base substitution A C intron_variant MELA-AU 13 35616652 35616652 single base substitution T C intron_variant MELA-AU 13 35616849 35616849 single base substitution T C intron_variant MELA-AU 13 35616888 35616888 single base substitution G A intron_variant MELA-AU 13 35616893 35616893 single base substitution G A intron_variant MELA-AU 13 35617045 35617045 single base substitution G A intron_variant MELA-AU 13 35617085 35617085 single base substitution A T intron_variant MELA-AU 13 35617164 35617164 single base substitution C T intron_variant MELA-AU 13 35617551 35617551 single base substitution A G intron_variant MELA-AU 13 35617827 35617827 single base substitution A G intron_variant MELA-AU 13 35617883 35617883 single base substitution C T intron_variant MELA-AU 13 35617907 35617907 single base substitution A C intron_variant MELA-AU 13 35617915 35617915 single base substitution T G intron_variant MELA-AU 13 35618084 35618084 single base substitution C T intron_variant MELA-AU 13 35618118 35618118 single base substitution G A intron_variant MELA-AU 13 35618146 35618146 single base substitution C T intron_variant MELA-AU 13 35618167 35618167 single base substitution A T intron_variant MELA-AU 13 35618205 35618205 single base substitution G A intron_variant MELA-AU 13 35618473 35618473 single base substitution T A intron_variant MELA-AU 13 35618537 35618537 single base substitution G A intron_variant MELA-AU 13 35618788 35618788 single base substitution G A intron_variant MELA-AU 13 35618885 35618885 single base substitution T C intron_variant MELA-AU 13 35618968 35618968 single base substitution G T intron_variant MELA-AU 13 35618970 35618970 single base substitution G T intron_variant MELA-AU 13 35619075 35619075 single base substitution C T intron_variant MELA-AU 13 35619203 35619203 single base substitution G A intron_variant MELA-AU 13 35619283 35619283 single base substitution G A intron_variant MELA-AU 13 35619328 35619328 single base substitution G A intron_variant MELA-AU 13 35619334 35619334 single base substitution A G intron_variant MELA-AU 13 35619521 35619521 single base substitution C T missense_variant P236S 706C>T MELA-AU 13 35619714 35619714 single base substitution C T intron_variant MELA-AU 13 35619741 35619741 single base substitution C T intron_variant MELA-AU 13 35620479 35620479 single base substitution C T intron_variant MELA-AU 13 35620858 35620858 single base substitution C T intron_variant MELA-AU 13 35620939 35620939 single base substitution G A intron_variant MELA-AU 13 35621024 35621024 single base substitution G A intron_variant MELA-AU 13 35621070 35621070 single base substitution C T intron_variant MELA-AU 13 35621194 35621194 single base substitution C T intron_variant MELA-AU 13 35621450 35621450 single base substitution G A intron_variant MELA-AU 13 35621468 35621468 single base substitution T C intron_variant MELA-AU 13 35621837 35621837 single base substitution C T intron_variant MELA-AU 13 35621917 35621917 single base substitution A G intron_variant MELA-AU 13 35622056 35622056 single base substitution C T intron_variant MELA-AU 13 35622141 35622141 single base substitution C T intron_variant MELA-AU 13 35622202 35622202 single base substitution C T intron_variant MELA-AU 13 35622318 35622318 single base substitution C T intron_variant MELA-AU 13 35622659 35622659 single base substitution C T intron_variant MELA-AU 13 35622751 35622751 single base substitution T C synonymous_variant L259L 775T>C MELA-AU 13 35622775 35622775 single base substitution C T missense_variant P267S 799C>T MELA-AU 13 35623110 35623110 single base substitution G A intron_variant MELA-AU 13 35623147 35623147 single base substitution C T intron_variant MELA-AU 13 35623394 35623394 single base substitution A G intron_variant MELA-AU 13 35623600 35623600 single base substitution C T intron_variant MELA-AU 13 35623754 35623754 single base substitution T C intron_variant MELA-AU 13 35623957 35623957 single base substitution C T intron_variant MELA-AU 13 35623993 35623993 single base substitution C T intron_variant MELA-AU 13 35624229 35624229 single base substitution C T intron_variant MELA-AU 13 35624310 35624310 single base substitution G A intron_variant MELA-AU 13 35624410 35624410 single base substitution C T missense_variant R284C 850C>T MELA-AU 13 35624485 35624485 single base substitution G A missense_variant G309R 925G>A MELA-AU 13 35624836 35624836 single base substitution G A intron_variant MELA-AU 13 35625153 35625153 single base substitution G A intron_variant MELA-AU 13 35625205 35625205 single base substitution G A intron_variant MELA-AU 13 35625267 35625267 single base substitution C T intron_variant MELA-AU 13 35625491 35625491 single base substitution G A intron_variant MELA-AU 13 35625563 35625563 single base substitution G A intron_variant MELA-AU 13 35625624 35625624 single base substitution A T intron_variant MELA-AU 13 35625970 35625970 single base substitution A T intron_variant MELA-AU 13 35626015 35626015 single base substitution G A intron_variant MELA-AU 13 35626064 35626064 single base substitution G A intron_variant MELA-AU 13 35626149 35626149 single base substitution G A intron_variant MELA-AU 13 35626397 35626397 single base substitution G A intron_variant MELA-AU 13 35626612 35626612 single base substitution C T intron_variant MELA-AU 13 35626654 35626654 single base substitution G A intron_variant MELA-AU 13 35626759 35626759 single base substitution T C intron_variant MELA-AU 13 35626915 35626915 single base substitution G A intron_variant MELA-AU 13 35627007 35627007 single base substitution C T intron_variant MELA-AU 13 35627026 35627026 single base substitution C T intron_variant MELA-AU 13 35627040 35627040 single base substitution T C intron_variant MELA-AU 13 35627135 35627135 single base substitution C T intron_variant MELA-AU 13 35627195 35627195 single base substitution C T intron_variant MELA-AU 13 35627249 35627249 single base substitution T C intron_variant MELA-AU 13 35627310 35627310 single base substitution G A intron_variant MELA-AU 13 35627451 35627451 single base substitution G A intron_variant MELA-AU 13 35627621 35627621 single base substitution C T intron_variant MELA-AU 13 35627749 35627749 single base substitution C T intron_variant MELA-AU 13 35628237 35628237 single base substitution C T intron_variant MELA-AU 13 35628258 35628258 single base substitution G A intron_variant MELA-AU 13 35628263 35628263 single base substitution C T intron_variant MELA-AU 13 35628331 35628331 single base substitution C T intron_variant MELA-AU 13 35628377 35628377 single base substitution G A intron_variant MELA-AU 13 35628523 35628523 single base substitution T G intron_variant MELA-AU 13 35628525 35628525 single base substitution A T intron_variant MELA-AU 13 35628541 35628541 single base substitution G A intron_variant MELA-AU 13 35628580 35628580 single base substitution T C intron_variant MELA-AU 13 35629001 35629001 single base substitution G A intron_variant MELA-AU 13 35629187 35629187 single base substitution T C intron_variant MELA-AU 13 35629275 35629275 single base substitution G A intron_variant MELA-AU 13 35629374 35629374 single base substitution C T intron_variant MELA-AU 13 35629440 35629440 single base substitution C T intron_variant MELA-AU 13 35629441 35629441 single base substitution A T intron_variant MELA-AU 13 35629504 35629504 single base substitution G A intron_variant MELA-AU 13 35629513 35629513 single base substitution C T intron_variant MELA-AU 13 35629873 35629873 single base substitution T C intron_variant MELA-AU 13 35629980 35629980 single base substitution C T intron_variant MELA-AU 13 35630122 35630122 single base substitution G A intron_variant MELA-AU 13 35630136 35630136 single base substitution T C intron_variant MELA-AU 13 35630354 35630354 single base substitution G A intron_variant MELA-AU 13 35630383 35630383 single base substitution C T intron_variant MELA-AU 13 35630511 35630511 single base substitution C T intron_variant MELA-AU 13 35630561 35630561 single base substitution C T intron_variant MELA-AU 13 35630561 35630562 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35630572 35630572 single base substitution T A intron_variant MELA-AU 13 35630802 35630802 single base substitution G A intron_variant MELA-AU 13 35631119 35631119 single base substitution G A intron_variant MELA-AU 13 35631207 35631207 single base substitution C T intron_variant MELA-AU 13 35631292 35631292 single base substitution C T intron_variant MELA-AU 13 35631298 35631298 single base substitution A G intron_variant MELA-AU 13 35631327 35631327 single base substitution C T intron_variant MELA-AU 13 35631508 35631508 single base substitution C T intron_variant MELA-AU 13 35631585 35631585 single base substitution T C intron_variant MELA-AU 13 35631591 35631591 single base substitution G A intron_variant MELA-AU 13 35631704 35631704 single base substitution C T intron_variant MELA-AU 13 35631808 35631808 single base substitution C T intron_variant MELA-AU 13 35631834 35631834 single base substitution G A intron_variant MELA-AU 13 35631837 35631837 single base substitution G A intron_variant MELA-AU 13 35632023 35632023 single base substitution G A intron_variant MELA-AU 13 35632030 35632030 single base substitution T A intron_variant MELA-AU 13 35632119 35632119 single base substitution C T intron_variant MELA-AU 13 35632146 35632146 single base substitution G A intron_variant MELA-AU 13 35632181 35632181 single base substitution C T intron_variant MELA-AU 13 35632332 35632332 single base substitution C T intron_variant MELA-AU 13 35632467 35632467 single base substitution G A intron_variant MELA-AU 13 35632486 35632486 single base substitution T A intron_variant MELA-AU 13 35632493 35632493 single base substitution C T intron_variant MELA-AU 13 35632603 35632603 single base substitution T G intron_variant MELA-AU 13 35632675 35632675 single base substitution C T intron_variant MELA-AU 13 35632748 35632748 single base substitution T A intron_variant MELA-AU 13 35632879 35632879 single base substitution C T missense_variant S373L 1118C>T MELA-AU 13 35632882 35632882 single base substitution C T missense_variant S374L 1121C>T MELA-AU 13 35633065 35633065 single base substitution C T intron_variant MELA-AU 13 35633144 35633144 single base substitution C T intron_variant MELA-AU 13 35633195 35633195 single base substitution G A intron_variant MELA-AU 13 35633898 35633898 single base substitution C T intron_variant MELA-AU 13 35633900 35633900 single base substitution G C intron_variant MELA-AU 13 35633900 35633900 single base substitution G T intron_variant MELA-AU 13 35634176 35634176 single base substitution G A intron_variant MELA-AU 13 35634247 35634247 single base substitution C T intron_variant MELA-AU 13 35634391 35634391 single base substitution G A intron_variant MELA-AU 13 35634398 35634398 single base substitution C T intron_variant MELA-AU 13 35634476 35634476 single base substitution G A intron_variant MELA-AU 13 35634515 35634515 single base substitution C T intron_variant MELA-AU 13 35634704 35634704 single base substitution T A intron_variant MELA-AU 13 35634750 35634750 single base substitution G A intron_variant MELA-AU 13 35634764 35634764 single base substitution G A intron_variant MELA-AU 13 35634765 35634765 single base substitution G A intron_variant MELA-AU 13 35635057 35635057 single base substitution C T intron_variant MELA-AU 13 35635206 35635206 single base substitution C A intron_variant MELA-AU 13 35635332 35635332 single base substitution T G intron_variant MELA-AU 13 35635334 35635334 single base substitution G A intron_variant MELA-AU 13 35635384 35635384 single base substitution G A intron_variant MELA-AU 13 35635446 35635446 single base substitution G A intron_variant MELA-AU 13 35635549 35635550 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 13 35635599 35635599 single base substitution C T intron_variant MELA-AU 13 35635655 35635655 single base substitution T A intron_variant MELA-AU 13 35635675 35635675 single base substitution T A intron_variant MELA-AU 13 35635802 35635802 single base substitution C T intron_variant MELA-AU 13 35635827 35635827 single base substitution G A intron_variant MELA-AU 13 35635848 35635848 single base substitution C T intron_variant MELA-AU 13 35636002 35636002 single base substitution T C intron_variant MELA-AU 13 35636110 35636110 single base substitution G A intron_variant MELA-AU 13 35636165 35636165 single base substitution G A intron_variant MELA-AU 13 35636300 35636300 single base substitution A G intron_variant MELA-AU 13 35636410 35636410 single base substitution T C intron_variant MELA-AU 13 35636411 35636411 single base substitution G A intron_variant MELA-AU 13 35636632 35636632 single base substitution G A intron_variant MELA-AU 13 35636699 35636699 single base substitution C T intron_variant MELA-AU 13 35636732 35636732 single base substitution G A intron_variant MELA-AU 13 35637066 35637066 single base substitution T A intron_variant MELA-AU 13 35637121 35637121 deletion of <=200bp T - intron_variant MELA-AU 13 35637124 35637124 single base substitution A C intron_variant MELA-AU 13 35637156 35637156 single base substitution G A intron_variant MELA-AU 13 35637401 35637401 single base substitution C T intron_variant MELA-AU 13 35637527 35637527 single base substitution G A intron_variant MELA-AU 13 35637668 35637668 single base substitution G A intron_variant MELA-AU 13 35637974 35637974 single base substitution G A intron_variant MELA-AU 13 35638072 35638072 single base substitution G A intron_variant MELA-AU 13 35638419 35638419 single base substitution G A intron_variant MELA-AU 13 35638555 35638555 single base substitution G A intron_variant MELA-AU 13 35638712 35638712 single base substitution G A intron_variant MELA-AU 13 35638747 35638747 single base substitution C T intron_variant MELA-AU 13 35638996 35638996 single base substitution C G intron_variant MELA-AU 13 35639218 35639218 single base substitution T A intron_variant MELA-AU 13 35639218 35639218 single base substitution T A upstream_gene_variant MELA-AU 13 35639269 35639269 single base substitution C T intron_variant MELA-AU 13 35639269 35639269 single base substitution C T upstream_gene_variant MELA-AU 13 35639379 35639379 single base substitution C T intron_variant MELA-AU 13 35639379 35639379 single base substitution C T upstream_gene_variant MELA-AU 13 35639394 35639394 single base substitution C T intron_variant MELA-AU 13 35639394 35639394 single base substitution C T upstream_gene_variant MELA-AU 13 35639686 35639686 single base substitution C T intron_variant MELA-AU 13 35639686 35639686 single base substitution C T upstream_gene_variant MELA-AU 13 35639889 35639889 single base substitution C T intron_variant MELA-AU 13 35639889 35639889 single base substitution C T upstream_gene_variant MELA-AU 13 35640094 35640094 single base substitution C T intron_variant MELA-AU 13 35640094 35640094 single base substitution C T upstream_gene_variant MELA-AU 13 35640238 35640238 single base substitution T A intron_variant MELA-AU 13 35640238 35640238 single base substitution T A upstream_gene_variant MELA-AU 13 35640339 35640339 single base substitution C T intron_variant MELA-AU 13 35640339 35640339 single base substitution C T upstream_gene_variant MELA-AU 13 35640457 35640457 single base substitution C T intron_variant MELA-AU 13 35640457 35640457 single base substitution C T upstream_gene_variant MELA-AU 13 35640496 35640496 single base substitution C T intron_variant MELA-AU 13 35640496 35640496 single base substitution C T upstream_gene_variant MELA-AU 13 35640547 35640547 single base substitution T A intron_variant MELA-AU 13 35640547 35640547 single base substitution T A upstream_gene_variant MELA-AU 13 35640562 35640562 single base substitution T A intron_variant MELA-AU 13 35640562 35640562 single base substitution T A upstream_gene_variant MELA-AU 13 35640589 35640589 single base substitution C T intron_variant MELA-AU 13 35640589 35640589 single base substitution C T upstream_gene_variant MELA-AU 13 35640645 35640645 single base substitution C T intron_variant MELA-AU 13 35640645 35640645 single base substitution C T upstream_gene_variant MELA-AU 13 35640657 35640657 single base substitution T G intron_variant MELA-AU 13 35640657 35640657 single base substitution T G upstream_gene_variant MELA-AU 13 35640693 35640693 single base substitution C T intron_variant MELA-AU 13 35640693 35640693 single base substitution C T upstream_gene_variant MELA-AU 13 35640768 35640768 single base substitution G A intron_variant MELA-AU 13 35640768 35640768 single base substitution G A upstream_gene_variant MELA-AU 13 35640918 35640918 single base substitution G A intron_variant MELA-AU 13 35640918 35640918 single base substitution G A upstream_gene_variant MELA-AU 13 35640999 35640999 single base substitution C T intron_variant MELA-AU 13 35640999 35640999 single base substitution C T upstream_gene_variant MELA-AU 13 35641064 35641064 single base substitution C T intron_variant MELA-AU 13 35641064 35641064 single base substitution C T upstream_gene_variant MELA-AU 13 35641125 35641125 single base substitution G A intron_variant MELA-AU 13 35641125 35641125 single base substitution G A upstream_gene_variant MELA-AU 13 35641213 35641213 single base substitution G T intron_variant MELA-AU 13 35641213 35641213 single base substitution G T upstream_gene_variant MELA-AU 13 35641417 35641417 single base substitution C T intron_variant MELA-AU 13 35641417 35641417 single base substitution C T upstream_gene_variant MELA-AU 13 35641422 35641422 single base substitution C T intron_variant MELA-AU 13 35641422 35641422 single base substitution C T upstream_gene_variant MELA-AU 13 35641427 35641427 single base substitution G A intron_variant MELA-AU 13 35641427 35641427 single base substitution G A upstream_gene_variant MELA-AU 13 35641574 35641574 single base substitution G A intron_variant MELA-AU 13 35641574 35641574 single base substitution G A upstream_gene_variant MELA-AU 13 35641760 35641760 single base substitution C T intron_variant MELA-AU 13 35641760 35641760 single base substitution C T upstream_gene_variant MELA-AU 13 35641771 35641771 single base substitution G A intron_variant MELA-AU 13 35641771 35641771 single base substitution G A upstream_gene_variant MELA-AU 13 35641811 35641811 single base substitution G A intron_variant MELA-AU 13 35641811 35641811 single base substitution G A upstream_gene_variant MELA-AU 13 35641849 35641849 single base substitution T C intron_variant MELA-AU 13 35641849 35641849 single base substitution T C upstream_gene_variant MELA-AU 13 35641914 35641914 single base substitution C T intron_variant MELA-AU 13 35641914 35641914 single base substitution C T upstream_gene_variant MELA-AU 13 35641964 35641964 single base substitution C T intron_variant MELA-AU 13 35641964 35641964 single base substitution C T upstream_gene_variant MELA-AU 13 35641984 35641984 single base substitution C T intron_variant MELA-AU 13 35641984 35641984 single base substitution C T upstream_gene_variant MELA-AU 13 35642132 35642132 single base substitution C T intron_variant MELA-AU 13 35642132 35642132 single base substitution C T upstream_gene_variant MELA-AU 13 35642247 35642247 single base substitution C T intron_variant MELA-AU 13 35642247 35642247 single base substitution C T upstream_gene_variant MELA-AU 13 35642336 35642336 single base substitution C T intron_variant MELA-AU 13 35642336 35642336 single base substitution C T upstream_gene_variant MELA-AU 13 35642390 35642390 single base substitution G A intron_variant MELA-AU 13 35642390 35642390 single base substitution G A upstream_gene_variant MELA-AU 13 35642407 35642407 single base substitution C T intron_variant MELA-AU 13 35642407 35642407 single base substitution C T upstream_gene_variant MELA-AU 13 35642421 35642421 single base substitution G A intron_variant MELA-AU 13 35642421 35642421 single base substitution G A upstream_gene_variant MELA-AU 13 35642463 35642463 single base substitution C T intron_variant MELA-AU 13 35642463 35642463 single base substitution C T upstream_gene_variant MELA-AU 13 35642495 35642495 single base substitution C T intron_variant MELA-AU 13 35642495 35642495 single base substitution C T upstream_gene_variant MELA-AU 13 35642511 35642511 single base substitution G A intron_variant MELA-AU 13 35642511 35642511 single base substitution G A upstream_gene_variant MELA-AU 13 35642549 35642549 single base substitution G A intron_variant MELA-AU 13 35642549 35642549 single base substitution G A upstream_gene_variant MELA-AU 13 35642618 35642618 single base substitution C T intron_variant MELA-AU 13 35642618 35642618 single base substitution C T upstream_gene_variant MELA-AU 13 35643001 35643001 single base substitution G A intron_variant MELA-AU 13 35643001 35643001 single base substitution G A upstream_gene_variant MELA-AU 13 35643060 35643060 single base substitution G A intron_variant MELA-AU 13 35643060 35643060 single base substitution G A upstream_gene_variant MELA-AU 13 35643193 35643193 single base substitution G A intron_variant MELA-AU 13 35643193 35643193 single base substitution G A upstream_gene_variant MELA-AU 13 35643545 35643545 single base substitution T A intron_variant MELA-AU 13 35643545 35643545 single base substitution T A upstream_gene_variant MELA-AU 13 35643819 35643819 single base substitution A T intron_variant MELA-AU 13 35643819 35643819 single base substitution A T upstream_gene_variant MELA-AU 13 35644009 35644009 single base substitution T A intron_variant MELA-AU 13 35644009 35644009 single base substitution T A upstream_gene_variant MELA-AU 13 35644038 35644038 single base substitution T A splice_region_variant MELA-AU 13 35644038 35644038 single base substitution T A upstream_gene_variant MELA-AU 13 35644335 35644335 single base substitution G A intron_variant MELA-AU 13 35644545 35644545 single base substitution T G intron_variant MELA-AU 13 35644666 35644666 single base substitution G A intron_variant MELA-AU 13 35644684 35644684 single base substitution G C intron_variant MELA-AU 13 35644845 35644845 single base substitution T C intron_variant MELA-AU 13 35644929 35644929 single base substitution C T exon_variant MELA-AU 13 35644929 35644929 single base substitution C T missense_variant P504L 1511C>T MELA-AU 13 35644982 35644982 single base substitution A G exon_variant MELA-AU 13 35644982 35644982 single base substitution A G missense_variant T522A 1564A>G MELA-AU 13 35645129 35645129 single base substitution G A downstream_gene_variant MELA-AU 13 35645129 35645129 single base substitution G A intron_variant MELA-AU 13 35645202 35645202 single base substitution C T downstream_gene_variant MELA-AU 13 35645202 35645202 single base substitution C T intron_variant MELA-AU 13 35645264 35645264 single base substitution G A downstream_gene_variant MELA-AU 13 35645264 35645264 single base substitution G A intron_variant MELA-AU 13 35645526 35645526 single base substitution C T downstream_gene_variant MELA-AU 13 35645526 35645526 single base substitution C T intron_variant MELA-AU 13 35645569 35645569 single base substitution C T downstream_gene_variant MELA-AU 13 35645569 35645569 single base substitution C T intron_variant MELA-AU 13 35645746 35645746 single base substitution T G downstream_gene_variant MELA-AU 13 35645746 35645746 single base substitution T G intron_variant MELA-AU 13 35646088 35646088 single base substitution T C downstream_gene_variant MELA-AU 13 35646088 35646088 single base substitution T C intron_variant MELA-AU 13 35646234 35646234 single base substitution C T downstream_gene_variant MELA-AU 13 35646234 35646234 single base substitution C T intron_variant MELA-AU 13 35646334 35646334 single base substitution G A downstream_gene_variant MELA-AU 13 35646334 35646334 single base substitution G A intron_variant MELA-AU 13 35646463 35646463 single base substitution C T downstream_gene_variant MELA-AU 13 35646463 35646463 single base substitution C T intron_variant MELA-AU 13 35646596 35646596 single base substitution C T downstream_gene_variant MELA-AU 13 35646596 35646596 single base substitution C T intron_variant MELA-AU 13 35646633 35646633 single base substitution C T downstream_gene_variant MELA-AU 13 35646633 35646633 single base substitution C T intron_variant MELA-AU 13 35646779 35646779 single base substitution A G downstream_gene_variant MELA-AU 13 35646779 35646779 single base substitution A G intron_variant MELA-AU 13 35646789 35646789 single base substitution C T downstream_gene_variant MELA-AU 13 35646789 35646789 single base substitution C T intron_variant MELA-AU 13 35647412 35647412 single base substitution C T downstream_gene_variant MELA-AU 13 35647412 35647412 single base substitution C T intron_variant MELA-AU 13 35647769 35647769 single base substitution G A downstream_gene_variant MELA-AU 13 35647769 35647769 single base substitution G A intron_variant MELA-AU 13 35647943 35647943 single base substitution G A downstream_gene_variant MELA-AU 13 35647943 35647943 single base substitution G A intron_variant MELA-AU 13 35648108 35648108 single base substitution A T downstream_gene_variant MELA-AU 13 35648108 35648108 single base substitution A T intron_variant MELA-AU 13 35648139 35648139 single base substitution T A downstream_gene_variant MELA-AU 13 35648139 35648139 single base substitution T A intron_variant MELA-AU 13 35648377 35648377 single base substitution C T downstream_gene_variant MELA-AU 13 35648377 35648377 single base substitution C T intron_variant MELA-AU 13 35648530 35648530 single base substitution C T downstream_gene_variant MELA-AU 13 35648530 35648530 single base substitution C T intron_variant MELA-AU 13 35648711 35648711 single base substitution C T downstream_gene_variant MELA-AU 13 35648711 35648711 single base substitution C T intron_variant MELA-AU 13 35649046 35649046 single base substitution C T downstream_gene_variant MELA-AU 13 35649046 35649046 single base substitution C T intron_variant MELA-AU 13 35649105 35649105 single base substitution C T downstream_gene_variant MELA-AU 13 35649105 35649105 single base substitution C T intron_variant MELA-AU 13 35649218 35649218 single base substitution G A downstream_gene_variant MELA-AU 13 35649218 35649218 single base substitution G A intron_variant MELA-AU 13 35649367 35649367 single base substitution C T downstream_gene_variant MELA-AU 13 35649367 35649367 single base substitution C T intron_variant MELA-AU 13 35649571 35649571 single base substitution C T downstream_gene_variant MELA-AU 13 35649571 35649571 single base substitution C T intron_variant MELA-AU 13 35649595 35649595 single base substitution C A downstream_gene_variant MELA-AU 13 35649595 35649595 single base substitution C A intron_variant MELA-AU 13 35649620 35649620 single base substitution G A downstream_gene_variant MELA-AU 13 35649620 35649620 single base substitution G A intron_variant MELA-AU 13 35649797 35649797 single base substitution C T downstream_gene_variant MELA-AU 13 35649797 35649797 single base substitution C T intron_variant MELA-AU 13 35649862 35649862 single base substitution T G downstream_gene_variant MELA-AU 13 35649862 35649862 single base substitution T G intron_variant MELA-AU 13 35649951 35649951 single base substitution A G downstream_gene_variant MELA-AU 13 35649951 35649951 single base substitution A G intron_variant MELA-AU 13 35649954 35649954 single base substitution G A downstream_gene_variant MELA-AU 13 35649954 35649954 single base substitution G A intron_variant MELA-AU 13 35649964 35649964 single base substitution G A downstream_gene_variant MELA-AU 13 35649964 35649964 single base substitution G A intron_variant MELA-AU 13 35650058 35650058 single base substitution G A downstream_gene_variant MELA-AU 13 35650058 35650058 single base substitution G A intron_variant MELA-AU 13 35650228 35650228 single base substitution C T intron_variant MELA-AU 13 35650549 35650549 single base substitution T A intron_variant MELA-AU 13 35650611 35650611 single base substitution A G intron_variant MELA-AU 13 35650720 35650720 single base substitution C T intron_variant MELA-AU 13 35650803 35650803 single base substitution C A intron_variant MELA-AU 13 35650827 35650827 single base substitution C T intron_variant MELA-AU 13 35651029 35651029 single base substitution T C intron_variant MELA-AU 13 35651242 35651242 single base substitution G A intron_variant MELA-AU 13 35651362 35651362 single base substitution C T intron_variant MELA-AU 13 35651443 35651443 single base substitution C T intron_variant MELA-AU 13 35651488 35651488 single base substitution C T intron_variant MELA-AU 13 35651581 35651581 single base substitution C T intron_variant MELA-AU 13 35651613 35651613 single base substitution G A intron_variant MELA-AU 13 35651645 35651645 single base substitution C T intron_variant MELA-AU 13 35651712 35651712 single base substitution C T intron_variant MELA-AU 13 35652035 35652035 single base substitution A C intron_variant MELA-AU 13 35652096 35652096 single base substitution G A intron_variant MELA-AU 13 35652168 35652168 single base substitution A T intron_variant MELA-AU 13 35652348 35652348 single base substitution C T intron_variant MELA-AU 13 35652673 35652673 single base substitution G A intron_variant MELA-AU 13 35652682 35652682 single base substitution C A intron_variant MELA-AU 13 35652693 35652693 single base substitution C A intron_variant MELA-AU 13 35652733 35652733 single base substitution G A intron_variant MELA-AU 13 35652792 35652792 single base substitution G A intron_variant MELA-AU 13 35652886 35652886 single base substitution G A intron_variant MELA-AU 13 35652956 35652956 single base substitution C T intron_variant MELA-AU 13 35652957 35652957 single base substitution G A intron_variant MELA-AU 13 35653113 35653113 single base substitution C T intron_variant MELA-AU 13 35653134 35653134 single base substitution G A intron_variant MELA-AU 13 35653145 35653145 single base substitution G A intron_variant MELA-AU 13 35653176 35653176 single base substitution A T intron_variant MELA-AU 13 35653367 35653367 single base substitution G A intron_variant MELA-AU 13 35653394 35653394 single base substitution C T intron_variant MELA-AU 13 35653504 35653504 single base substitution G A intron_variant MELA-AU 13 35653603 35653603 single base substitution C T intron_variant MELA-AU 13 35653653 35653653 single base substitution C T intron_variant MELA-AU 13 35653710 35653710 single base substitution G A intron_variant MELA-AU 13 35653721 35653721 single base substitution C T intron_variant MELA-AU 13 35653894 35653894 single base substitution C T intron_variant MELA-AU 13 35654292 35654292 single base substitution G A intron_variant MELA-AU 13 35654327 35654327 single base substitution T A intron_variant MELA-AU 13 35654336 35654336 single base substitution C T intron_variant MELA-AU 13 35654417 35654417 single base substitution C T intron_variant MELA-AU 13 35654465 35654465 single base substitution G A intron_variant MELA-AU 13 35654472 35654472 single base substitution C T intron_variant MELA-AU 13 35654562 35654562 single base substitution C T intron_variant MELA-AU 13 35654579 35654579 single base substitution A T intron_variant MELA-AU 13 35654736 35654736 single base substitution G A intron_variant MELA-AU 13 35654779 35654779 single base substitution C T intron_variant MELA-AU 13 35655146 35655146 single base substitution C T intron_variant MELA-AU 13 35655263 35655263 single base substitution G A intron_variant MELA-AU 13 35655573 35655573 single base substitution G A intron_variant MELA-AU 13 35655862 35655862 single base substitution G A intron_variant MELA-AU 13 35655944 35655944 single base substitution G A intron_variant MELA-AU 13 35656001 35656001 single base substitution T C intron_variant MELA-AU 13 35656046 35656046 single base substitution C T intron_variant MELA-AU 13 35656160 35656160 single base substitution C T intron_variant MELA-AU 13 35656196 35656196 single base substitution C T intron_variant MELA-AU 13 35656254 35656254 single base substitution C T intron_variant MELA-AU 13 35656307 35656307 single base substitution G A intron_variant MELA-AU 13 35656349 35656349 single base substitution C T intron_variant MELA-AU 13 35656360 35656360 single base substitution C T intron_variant MELA-AU 13 35656365 35656365 single base substitution C T intron_variant MELA-AU 13 35656380 35656380 single base substitution G A intron_variant MELA-AU 13 35656620 35656620 single base substitution G T intron_variant MELA-AU 13 35656824 35656824 single base substitution C T intron_variant MELA-AU 13 35656992 35656992 single base substitution C T intron_variant MELA-AU 13 35657212 35657212 single base substitution C T intron_variant MELA-AU 13 35657354 35657354 single base substitution C T intron_variant MELA-AU 13 35657503 35657503 single base substitution C T intron_variant MELA-AU 13 35657518 35657518 single base substitution G A intron_variant MELA-AU 13 35657545 35657545 single base substitution C T intron_variant MELA-AU 13 35657583 35657583 single base substitution G A intron_variant MELA-AU 13 35657607 35657607 single base substitution A T intron_variant MELA-AU 13 35657610 35657610 single base substitution G A intron_variant MELA-AU 13 35657630 35657630 single base substitution C T intron_variant MELA-AU 13 35657635 35657635 single base substitution C T intron_variant MELA-AU 13 35657741 35657741 single base substitution G A intron_variant MELA-AU 13 35657821 35657821 single base substitution G A intron_variant MELA-AU 13 35657864 35657864 single base substitution C T intron_variant MELA-AU 13 35657875 35657875 single base substitution G A intron_variant MELA-AU 13 35657908 35657908 single base substitution A T intron_variant MELA-AU 13 35658048 35658048 single base substitution G A intron_variant MELA-AU 13 35658237 35658237 single base substitution G T intron_variant MELA-AU 13 35658345 35658345 single base substitution G A intron_variant MELA-AU 13 35658386 35658386 single base substitution C T intron_variant MELA-AU 13 35658413 35658413 single base substitution C T intron_variant MELA-AU 13 35658482 35658482 single base substitution A G intron_variant MELA-AU 13 35658731 35658731 single base substitution G A intron_variant MELA-AU 13 35658764 35658764 single base substitution G A intron_variant MELA-AU 13 35658768 35658768 single base substitution G A intron_variant MELA-AU 13 35658772 35658772 single base substitution G A intron_variant MELA-AU 13 35658775 35658775 single base substitution C T intron_variant MELA-AU 13 35658921 35658921 single base substitution G A intron_variant MELA-AU 13 35659035 35659035 single base substitution G A intron_variant MELA-AU 13 35659050 35659050 single base substitution C T intron_variant MELA-AU 13 35659056 35659056 single base substitution G A intron_variant MELA-AU 13 35659136 35659136 single base substitution C T intron_variant MELA-AU 13 35659524 35659524 single base substitution G A intron_variant MELA-AU 13 35659727 35659727 single base substitution A T intron_variant MELA-AU 13 35659762 35659762 single base substitution C T intron_variant MELA-AU 13 35659856 35659856 single base substitution G A intron_variant MELA-AU 13 35659876 35659876 single base substitution C T intron_variant MELA-AU 13 35660023 35660023 single base substitution C T intron_variant MELA-AU 13 35660072 35660072 single base substitution A G intron_variant MELA-AU 13 35660106 35660106 single base substitution C T intron_variant MELA-AU 13 35660618 35660618 single base substitution C T intron_variant MELA-AU 13 35660701 35660701 single base substitution G A intron_variant MELA-AU 13 35660790 35660790 single base substitution C T intron_variant MELA-AU 13 35660795 35660795 single base substitution C T intron_variant MELA-AU 13 35661209 35661209 single base substitution G A intron_variant MELA-AU 13 35661261 35661261 single base substitution C T intron_variant MELA-AU 13 35661381 35661381 single base substitution G A intron_variant MELA-AU 13 35661393 35661393 single base substitution G A intron_variant MELA-AU 13 35661475 35661475 single base substitution C T intron_variant MELA-AU 13 35661505 35661505 single base substitution G A intron_variant MELA-AU 13 35661523 35661523 single base substitution C T intron_variant MELA-AU 13 35661640 35661640 single base substitution G A intron_variant MELA-AU 13 35661742 35661742 single base substitution G A intron_variant MELA-AU 13 35661757 35661757 single base substitution G A intron_variant MELA-AU 13 35661804 35661804 single base substitution G A intron_variant MELA-AU 13 35661942 35661942 single base substitution G A intron_variant MELA-AU 13 35662040 35662040 single base substitution G A intron_variant MELA-AU 13 35662135 35662135 single base substitution G A intron_variant MELA-AU 13 35662189 35662189 single base substitution G A intron_variant MELA-AU 13 35662262 35662262 single base substitution C T intron_variant MELA-AU 13 35662364 35662364 single base substitution C T intron_variant MELA-AU 13 35662406 35662406 single base substitution C T intron_variant MELA-AU 13 35662458 35662458 single base substitution T G intron_variant MELA-AU 13 35662567 35662567 single base substitution C T intron_variant MELA-AU 13 35662607 35662607 single base substitution G A intron_variant MELA-AU 13 35662690 35662690 single base substitution C T intron_variant MELA-AU 13 35662834 35662834 single base substitution G A intron_variant MELA-AU 13 35664373 35664374 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35664505 35664505 single base substitution C T intron_variant MELA-AU 13 35664548 35664548 single base substitution G A intron_variant MELA-AU 13 35664654 35664654 single base substitution T C intron_variant MELA-AU 13 35664798 35664798 single base substitution G A intron_variant MELA-AU 13 35664809 35664809 single base substitution G A intron_variant MELA-AU 13 35665028 35665028 single base substitution C T intron_variant MELA-AU 13 35665101 35665101 single base substitution G A intron_variant MELA-AU 13 35665151 35665152 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35665160 35665160 single base substitution C T intron_variant MELA-AU 13 35665273 35665273 single base substitution G A intron_variant MELA-AU 13 35665507 35665507 single base substitution C T intron_variant MELA-AU 13 35665513 35665513 single base substitution A T intron_variant MELA-AU 13 35665577 35665577 single base substitution T C intron_variant MELA-AU 13 35666065 35666065 single base substitution C T intron_variant MELA-AU 13 35666427 35666427 single base substitution G A intron_variant MELA-AU 13 35666487 35666487 single base substitution C T intron_variant MELA-AU 13 35666498 35666498 single base substitution G A intron_variant MELA-AU 13 35666508 35666508 single base substitution C T intron_variant MELA-AU 13 35666582 35666582 single base substitution G A intron_variant MELA-AU 13 35666740 35666740 single base substitution G A intron_variant MELA-AU 13 35666769 35666769 single base substitution G A intron_variant MELA-AU 13 35666966 35666966 single base substitution C T intron_variant MELA-AU 13 35667034 35667034 single base substitution G A intron_variant MELA-AU 13 35667049 35667049 single base substitution C T intron_variant MELA-AU 13 35667672 35667672 single base substitution G A intron_variant MELA-AU 13 35667780 35667781 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35667822 35667822 single base substitution C T intron_variant MELA-AU 13 35667862 35667862 single base substitution G A intron_variant MELA-AU 13 35667875 35667875 single base substitution C T intron_variant MELA-AU 13 35667925 35667925 single base substitution C T intron_variant MELA-AU 13 35668068 35668068 single base substitution G A intron_variant MELA-AU 13 35668068 35668069 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35668144 35668144 single base substitution G A intron_variant MELA-AU 13 35668225 35668225 single base substitution C T intron_variant MELA-AU 13 35668296 35668296 single base substitution G A intron_variant MELA-AU 13 35668342 35668342 single base substitution G A intron_variant MELA-AU 13 35668358 35668358 single base substitution C T intron_variant MELA-AU 13 35668679 35668679 single base substitution G T intron_variant MELA-AU 13 35668868 35668868 single base substitution A T intron_variant MELA-AU 13 35668975 35668975 single base substitution C T intron_variant MELA-AU 13 35668975 35668976 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35669414 35669414 single base substitution A G intron_variant MELA-AU 13 35669764 35669764 single base substitution C T intron_variant MELA-AU 13 35670083 35670083 single base substitution G A intron_variant MELA-AU 13 35670134 35670134 single base substitution G A intron_variant MELA-AU 13 35670340 35670340 single base substitution T C intron_variant MELA-AU 13 35670502 35670502 single base substitution T C intron_variant MELA-AU 13 35670504 35670504 single base substitution G A intron_variant MELA-AU 13 35670615 35670615 single base substitution G A intron_variant MELA-AU 13 35670731 35670731 single base substitution C T intron_variant MELA-AU 13 35670736 35670736 single base substitution C T intron_variant MELA-AU 13 35670775 35670776 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35670943 35670943 single base substitution C T intron_variant MELA-AU 13 35671146 35671147 multiple base substitution (>=2bp and <=200bp) TT CA intron_variant MELA-AU 13 35671222 35671222 single base substitution G A intron_variant MELA-AU 13 35671273 35671273 single base substitution G A intron_variant MELA-AU 13 35671423 35671423 single base substitution T G intron_variant MELA-AU 13 35671656 35671656 single base substitution C T intron_variant MELA-AU 13 35671728 35671728 single base substitution T A intron_variant MELA-AU 13 35671757 35671757 single base substitution C T intron_variant MELA-AU 13 35671953 35671953 single base substitution G A intron_variant MELA-AU 13 35671981 35671981 single base substitution G A intron_variant MELA-AU 13 35672335 35672335 single base substitution G A intron_variant MELA-AU 13 35672338 35672338 single base substitution T A intron_variant MELA-AU 13 35672347 35672347 single base substitution C T intron_variant MELA-AU 13 35672792 35672792 single base substitution C T intron_variant MELA-AU 13 35672959 35672959 single base substitution C T intron_variant MELA-AU 13 35673071 35673071 single base substitution C T intron_variant MELA-AU 13 35673105 35673105 single base substitution C T intron_variant MELA-AU 13 35673112 35673112 single base substitution G A intron_variant MELA-AU 13 35673203 35673203 single base substitution C T intron_variant MELA-AU 13 35673445 35673445 single base substitution C T intron_variant MELA-AU 13 35673462 35673462 single base substitution G A intron_variant MELA-AU 13 35673490 35673490 single base substitution C T intron_variant MELA-AU 13 35673701 35673701 single base substitution G A intron_variant MELA-AU 13 35673793 35673793 single base substitution C T intron_variant MELA-AU 13 35673970 35673970 single base substitution C T intron_variant MELA-AU 13 35674185 35674185 single base substitution C T intron_variant MELA-AU 13 35674288 35674288 single base substitution G A intron_variant MELA-AU 13 35674401 35674401 single base substitution C T intron_variant MELA-AU 13 35674571 35674571 single base substitution C T intron_variant MELA-AU 13 35674975 35674975 single base substitution C T intron_variant MELA-AU 13 35675010 35675010 single base substitution C T intron_variant MELA-AU 13 35675399 35675399 single base substitution G A intron_variant MELA-AU 13 35675464 35675464 single base substitution C T intron_variant MELA-AU 13 35675471 35675471 single base substitution C T intron_variant MELA-AU 13 35675641 35675641 single base substitution C T intron_variant MELA-AU 13 35675778 35675778 single base substitution C T intron_variant MELA-AU 13 35675807 35675807 single base substitution C T intron_variant MELA-AU 13 35675814 35675814 single base substitution G A intron_variant MELA-AU 13 35675843 35675843 single base substitution C T intron_variant MELA-AU 13 35675961 35675961 single base substitution C T intron_variant MELA-AU 13 35676053 35676053 single base substitution A T intron_variant MELA-AU 13 35676353 35676353 single base substitution C T intron_variant MELA-AU 13 35676551 35676551 single base substitution C T intron_variant MELA-AU 13 35676623 35676623 single base substitution T C intron_variant MELA-AU 13 35676694 35676695 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 13 35676734 35676734 single base substitution C T intron_variant MELA-AU 13 35676785 35676785 single base substitution G A intron_variant MELA-AU 13 35677006 35677006 single base substitution C T intron_variant MELA-AU 13 35677075 35677075 single base substitution C T intron_variant MELA-AU 13 35677195 35677195 single base substitution C T intron_variant MELA-AU 13 35677327 35677327 single base substitution C T intron_variant MELA-AU 13 35677370 35677370 single base substitution T A intron_variant MELA-AU 13 35677372 35677372 single base substitution C T intron_variant MELA-AU 13 35677620 35677620 single base substitution C T intron_variant MELA-AU 13 35677716 35677716 single base substitution C T intron_variant MELA-AU 13 35677748 35677748 single base substitution C T intron_variant MELA-AU 13 35677853 35677853 single base substitution G A intron_variant MELA-AU 13 35678074 35678074 single base substitution C T intron_variant MELA-AU 13 35678075 35678075 single base substitution C T intron_variant MELA-AU 13 35678105 35678105 single base substitution C T intron_variant MELA-AU 13 35678127 35678127 single base substitution C T intron_variant MELA-AU 13 35678263 35678263 single base substitution C T intron_variant MELA-AU 13 35678266 35678266 single base substitution G A intron_variant MELA-AU 13 35678347 35678347 single base substitution G A intron_variant MELA-AU 13 35678413 35678413 single base substitution C T intron_variant MELA-AU 13 35678458 35678458 single base substitution C T intron_variant MELA-AU 13 35678690 35678690 single base substitution G T intron_variant MELA-AU 13 35678878 35678878 single base substitution A T intron_variant MELA-AU 13 35678890 35678890 single base substitution C T intron_variant MELA-AU 13 35678910 35678910 single base substitution T C intron_variant MELA-AU 13 35678915 35678915 single base substitution G C intron_variant MELA-AU 13 35678951 35678951 single base substitution G A intron_variant MELA-AU 13 35678983 35678983 single base substitution G A intron_variant MELA-AU 13 35679000 35679000 single base substitution T C intron_variant MELA-AU 13 35679235 35679235 single base substitution G C intron_variant MELA-AU 13 35679256 35679256 single base substitution G A intron_variant MELA-AU 13 35679407 35679407 single base substitution G A intron_variant MELA-AU 13 35679431 35679431 single base substitution C T intron_variant MELA-AU 13 35679508 35679508 single base substitution C T intron_variant MELA-AU 13 35679598 35679598 single base substitution G T intron_variant MELA-AU 13 35679833 35679833 single base substitution C T intron_variant MELA-AU 13 35680386 35680386 single base substitution C T intron_variant MELA-AU 13 35680460 35680460 single base substitution C T intron_variant MELA-AU 13 35680465 35680465 single base substitution G A intron_variant MELA-AU 13 35680587 35680587 single base substitution G A intron_variant MELA-AU 13 35680601 35680601 single base substitution G A intron_variant MELA-AU 13 35680634 35680634 single base substitution C T intron_variant MELA-AU 13 35680830 35680830 single base substitution C T intron_variant MELA-AU 13 35681121 35681121 single base substitution C T intron_variant MELA-AU 13 35681243 35681243 single base substitution G A intron_variant MELA-AU 13 35681377 35681377 single base substitution G A intron_variant MELA-AU 13 35681506 35681506 single base substitution G A intron_variant MELA-AU 13 35681755 35681755 single base substitution C T intron_variant MELA-AU 13 35681854 35681854 single base substitution A C intron_variant MELA-AU 13 35682198 35682198 single base substitution G A intron_variant MELA-AU 13 35682423 35682423 single base substitution G A intron_variant MELA-AU 13 35682462 35682462 single base substitution G A intron_variant MELA-AU 13 35682824 35682824 single base substitution C T intron_variant MELA-AU 13 35682922 35682922 single base substitution C T intron_variant MELA-AU 13 35683141 35683141 single base substitution T A intron_variant MELA-AU 13 35683156 35683156 single base substitution C T intron_variant MELA-AU 13 35683314 35683314 single base substitution C T intron_variant MELA-AU 13 35683327 35683327 single base substitution G A intron_variant MELA-AU 13 35683459 35683460 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LE571LK MELA-AU 13 35683543 35683543 single base substitution A T missense_variant L599F 1797A>T MELA-AU 13 35683749 35683749 single base substitution A T intron_variant MELA-AU 13 35683927 35683927 single base substitution C T intron_variant MELA-AU 13 35684086 35684086 single base substitution G A intron_variant MELA-AU 13 35684173 35684173 single base substitution T A intron_variant MELA-AU 13 35684334 35684334 single base substitution C T intron_variant MELA-AU 13 35684486 35684486 single base substitution C T intron_variant MELA-AU 13 35684689 35684689 single base substitution T C intron_variant MELA-AU 13 35684818 35684818 single base substitution T A intron_variant MELA-AU 13 35684958 35684958 single base substitution C T synonymous_variant S615S 1845C>T MELA-AU 13 35685104 35685104 single base substitution C T missense_variant P664L 1991C>T MELA-AU 13 35685131 35685131 single base substitution C T intron_variant MELA-AU 13 35685593 35685593 single base substitution A T intron_variant MELA-AU 13 35685667 35685667 single base substitution C T intron_variant MELA-AU 13 35685749 35685749 single base substitution T C intron_variant MELA-AU 13 35685974 35685974 single base substitution C T intron_variant MELA-AU 13 35685975 35685975 single base substitution C G intron_variant MELA-AU 13 35686034 35686034 single base substitution G A intron_variant MELA-AU 13 35686113 35686113 single base substitution G A intron_variant MELA-AU 13 35686221 35686221 single base substitution T A intron_variant MELA-AU 13 35686292 35686292 single base substitution G A intron_variant MELA-AU 13 35686435 35686435 single base substitution A G intron_variant MELA-AU 13 35686723 35686723 single base substitution C T intron_variant MELA-AU 13 35687056 35687056 single base substitution G A intron_variant MELA-AU 13 35687120 35687120 single base substitution A G intron_variant MELA-AU 13 35687167 35687167 single base substitution C T intron_variant MELA-AU 13 35687178 35687178 single base substitution C T intron_variant MELA-AU 13 35687246 35687246 single base substitution C T intron_variant MELA-AU 13 35687351 35687351 single base substitution C T intron_variant MELA-AU 13 35687629 35687629 single base substitution A T intron_variant MELA-AU 13 35687768 35687768 single base substitution G A intron_variant MELA-AU 13 35687772 35687772 single base substitution G A intron_variant MELA-AU 13 35687776 35687776 single base substitution A G intron_variant MELA-AU 13 35687904 35687904 single base substitution A G intron_variant MELA-AU 13 35688053 35688053 single base substitution C T intron_variant MELA-AU 13 35688173 35688173 single base substitution T C intron_variant MELA-AU 13 35688342 35688342 single base substitution T C intron_variant MELA-AU 13 35688407 35688407 single base substitution C T intron_variant MELA-AU 13 35688556 35688556 single base substitution G T intron_variant MELA-AU 13 35688898 35688898 single base substitution C T intron_variant MELA-AU 13 35689024 35689024 single base substitution C T intron_variant MELA-AU 13 35689741 35689741 single base substitution G A intron_variant MELA-AU 13 35689757 35689757 single base substitution C T intron_variant MELA-AU 13 35689778 35689778 single base substitution C T intron_variant MELA-AU 13 35689813 35689813 single base substitution C T intron_variant MELA-AU 13 35690042 35690042 single base substitution G A intron_variant MELA-AU 13 35690105 35690105 single base substitution G A intron_variant MELA-AU 13 35690257 35690257 single base substitution G A intron_variant MELA-AU 13 35690419 35690419 single base substitution C T intron_variant MELA-AU 13 35690494 35690494 single base substitution C T intron_variant MELA-AU 13 35690583 35690583 single base substitution G A intron_variant MELA-AU 13 35691217 35691217 single base substitution G A intron_variant MELA-AU 13 35691610 35691610 single base substitution C T synonymous_variant L688L 2062C>T MELA-AU 13 35691679 35691679 single base substitution G A intron_variant MELA-AU 13 35691731 35691731 single base substitution C T intron_variant MELA-AU 13 35691917 35691917 single base substitution T A intron_variant MELA-AU 13 35691982 35691982 single base substitution G A intron_variant MELA-AU 13 35692031 35692031 single base substitution G A intron_variant MELA-AU 13 35692061 35692061 single base substitution T A intron_variant MELA-AU 13 35692207 35692207 single base substitution A T intron_variant MELA-AU 13 35692290 35692290 single base substitution G A intron_variant MELA-AU 13 35692364 35692364 single base substitution G A splice_acceptor_variant MELA-AU 13 35692369 35692369 single base substitution G A missense_variant R696Q 2087G>A MELA-AU 13 35692456 35692456 deletion of <=200bp A - intron_variant MELA-AU 13 35692529 35692529 single base substitution G A missense_variant D721N 2161G>A MELA-AU 13 35692616 35692616 single base substitution G A splice_region_variant MELA-AU 13 35692647 35692647 single base substitution A G intron_variant MELA-AU 13 35692697 35692697 single base substitution G A intron_variant MELA-AU 13 35693202 35693202 single base substitution G A intron_variant MELA-AU 13 35693344 35693344 single base substitution C T intron_variant MELA-AU 13 35693728 35693728 single base substitution C T intron_variant MELA-AU 13 35693918 35693918 single base substitution G A intron_variant MELA-AU 13 35694219 35694219 single base substitution A G intron_variant MELA-AU 13 35694457 35694457 single base substitution C T intron_variant MELA-AU 13 35695139 35695139 single base substitution C T intron_variant MELA-AU 13 35695146 35695146 single base substitution C T intron_variant MELA-AU 13 35695428 35695428 single base substitution G A intron_variant MELA-AU 13 35695713 35695713 single base substitution C T intron_variant MELA-AU 13 35695827 35695827 single base substitution G A intron_variant MELA-AU 13 35695908 35695908 single base substitution G A intron_variant MELA-AU 13 35696360 35696360 single base substitution C T intron_variant MELA-AU 13 35696583 35696583 single base substitution C T intron_variant MELA-AU 13 35696658 35696658 single base substitution G A intron_variant MELA-AU 13 35696698 35696698 single base substitution G A intron_variant MELA-AU 13 35696945 35696945 single base substitution C T intron_variant MELA-AU 13 35697117 35697117 single base substitution C T intron_variant MELA-AU 13 35697296 35697296 single base substitution G A intron_variant MELA-AU 13 35698179 35698179 single base substitution C T intron_variant MELA-AU 13 35698524 35698524 single base substitution C T intron_variant MELA-AU 13 35698603 35698603 single base substitution G A intron_variant MELA-AU 13 35698657 35698657 single base substitution G A intron_variant MELA-AU 13 35698755 35698755 single base substitution A T intron_variant MELA-AU 13 35698814 35698814 single base substitution T C intron_variant MELA-AU 13 35698821 35698821 single base substitution G A intron_variant MELA-AU 13 35699059 35699059 single base substitution C T intron_variant MELA-AU 13 35699109 35699109 single base substitution G A intron_variant MELA-AU 13 35699267 35699267 single base substitution C T intron_variant MELA-AU 13 35699758 35699758 single base substitution G A intron_variant MELA-AU 13 35699850 35699850 single base substitution G A intron_variant MELA-AU 13 35699851 35699851 insertion of <=200bp - A intron_variant MELA-AU 13 35700049 35700049 single base substitution C T intron_variant MELA-AU 13 35700172 35700172 single base substitution G A intron_variant MELA-AU 13 35700300 35700300 single base substitution G A intron_variant MELA-AU 13 35700310 35700310 single base substitution G A intron_variant MELA-AU 13 35700311 35700311 single base substitution G A intron_variant MELA-AU 13 35700333 35700333 single base substitution C T intron_variant MELA-AU 13 35700356 35700356 single base substitution T G intron_variant MELA-AU 13 35700387 35700387 single base substitution C T intron_variant MELA-AU 13 35700464 35700464 single base substitution C A intron_variant MELA-AU 13 35700512 35700512 single base substitution A T intron_variant MELA-AU 13 35700577 35700577 single base substitution G A intron_variant MELA-AU 13 35700602 35700602 single base substitution A T intron_variant MELA-AU 13 35700839 35700839 single base substitution G A intron_variant MELA-AU 13 35700891 35700891 single base substitution C G intron_variant MELA-AU 13 35701219 35701219 single base substitution G A intron_variant MELA-AU 13 35701502 35701502 single base substitution G A intron_variant MELA-AU 13 35701882 35701882 insertion of <=200bp - A intron_variant MELA-AU 13 35701982 35701983 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35701983 35701983 single base substitution C T intron_variant MELA-AU 13 35702229 35702229 single base substitution G T intron_variant MELA-AU 13 35702295 35702295 single base substitution C T intron_variant MELA-AU 13 35702402 35702402 single base substitution C T intron_variant MELA-AU 13 35702451 35702451 single base substitution C T intron_variant MELA-AU 13 35702462 35702462 single base substitution G A intron_variant MELA-AU 13 35702776 35702776 single base substitution C T intron_variant MELA-AU 13 35702956 35702956 single base substitution G A intron_variant MELA-AU 13 35703036 35703036 single base substitution A T intron_variant MELA-AU 13 35703059 35703059 single base substitution G A intron_variant MELA-AU 13 35703327 35703327 single base substitution C T intron_variant MELA-AU 13 35703341 35703341 single base substitution G A intron_variant MELA-AU 13 35703503 35703503 single base substitution C T intron_variant MELA-AU 13 35703749 35703749 single base substitution C A intron_variant MELA-AU 13 35703763 35703763 single base substitution G A intron_variant MELA-AU 13 35703882 35703882 single base substitution G A intron_variant MELA-AU 13 35704083 35704083 single base substitution C T intron_variant MELA-AU 13 35704400 35704401 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35704454 35704454 single base substitution G A intron_variant MELA-AU 13 35704606 35704606 single base substitution A G intron_variant MELA-AU 13 35705123 35705123 single base substitution G A intron_variant MELA-AU 13 35705159 35705159 single base substitution G A intron_variant MELA-AU 13 35705184 35705184 single base substitution C T intron_variant MELA-AU 13 35705453 35705453 single base substitution C T intron_variant MELA-AU 13 35706115 35706115 single base substitution C T intron_variant MELA-AU 13 35706226 35706226 single base substitution G A intron_variant MELA-AU 13 35706306 35706306 single base substitution T A intron_variant MELA-AU 13 35706358 35706358 single base substitution G A intron_variant MELA-AU 13 35706522 35706522 single base substitution C T intron_variant MELA-AU 13 35706820 35706820 single base substitution G A intron_variant MELA-AU 13 35707099 35707099 single base substitution G A intron_variant MELA-AU 13 35707209 35707209 single base substitution G A intron_variant MELA-AU 13 35707739 35707739 single base substitution C T intron_variant MELA-AU 13 35708282 35708282 single base substitution G A intron_variant MELA-AU 13 35708323 35708323 single base substitution G A intron_variant MELA-AU 13 35708903 35708903 single base substitution G A intron_variant MELA-AU 13 35709329 35709329 single base substitution C T intron_variant MELA-AU 13 35709478 35709478 single base substitution A T intron_variant MELA-AU 13 35709515 35709515 single base substitution G A intron_variant MELA-AU 13 35709588 35709588 single base substitution T A intron_variant MELA-AU 13 35709982 35709982 single base substitution G A intron_variant MELA-AU 13 35709983 35709983 single base substitution A G intron_variant MELA-AU 13 35710029 35710029 single base substitution C T intron_variant MELA-AU 13 35710158 35710158 single base substitution C T intron_variant MELA-AU 13 35710159 35710159 single base substitution C T intron_variant MELA-AU 13 35710211 35710211 single base substitution C T intron_variant MELA-AU 13 35710353 35710353 single base substitution C T intron_variant MELA-AU 13 35710531 35710531 single base substitution C T intron_variant MELA-AU 13 35710589 35710589 single base substitution C T intron_variant MELA-AU 13 35710728 35710728 single base substitution A C intron_variant MELA-AU 13 35710855 35710855 single base substitution G C intron_variant MELA-AU 13 35710868 35710868 single base substitution G A intron_variant MELA-AU 13 35710881 35710882 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35711656 35711656 single base substitution C T intron_variant MELA-AU 13 35711665 35711665 single base substitution T C intron_variant MELA-AU 13 35711769 35711769 single base substitution C T intron_variant MELA-AU 13 35711964 35711964 single base substitution C T intron_variant MELA-AU 13 35712005 35712005 single base substitution A G intron_variant MELA-AU 13 35712050 35712050 single base substitution A C intron_variant MELA-AU 13 35712316 35712316 single base substitution G A intron_variant MELA-AU 13 35712378 35712378 single base substitution G A intron_variant MELA-AU 13 35712578 35712578 single base substitution G A intron_variant MELA-AU 13 35712610 35712610 single base substitution T C intron_variant MELA-AU 13 35712838 35712838 single base substitution C T intron_variant MELA-AU 13 35712848 35712848 single base substitution C T intron_variant MELA-AU 13 35713049 35713049 single base substitution G A intron_variant MELA-AU 13 35713210 35713210 single base substitution T G intron_variant MELA-AU 13 35713320 35713320 single base substitution C T intron_variant MELA-AU 13 35713535 35713535 single base substitution T A intron_variant MELA-AU 13 35713903 35713903 single base substitution T G intron_variant MELA-AU 13 35713948 35713948 single base substitution A C intron_variant MELA-AU 13 35714026 35714026 single base substitution G A intron_variant MELA-AU 13 35714095 35714095 single base substitution C T intron_variant MELA-AU 13 35714264 35714264 single base substitution C T intron_variant MELA-AU 13 35714680 35714680 single base substitution C T intron_variant MELA-AU 13 35714758 35714758 single base substitution C T intron_variant MELA-AU 13 35714924 35714924 single base substitution C T intron_variant MELA-AU 13 35715376 35715376 single base substitution A T intron_variant MELA-AU 13 35715697 35715697 single base substitution C T intron_variant MELA-AU 13 35715710 35715710 single base substitution G A intron_variant MELA-AU 13 35715801 35715801 single base substitution C T intron_variant MELA-AU 13 35715869 35715869 single base substitution C T intron_variant MELA-AU 13 35716277 35716277 single base substitution G A intron_variant MELA-AU 13 35716467 35716467 single base substitution T C synonymous_variant L800L 2398T>C MELA-AU 13 35716493 35716493 single base substitution C T synonymous_variant T808T 2424C>T MELA-AU 13 35716834 35716834 single base substitution C T intron_variant MELA-AU 13 35716847 35716847 single base substitution C T intron_variant MELA-AU 13 35716931 35716931 single base substitution C T intron_variant MELA-AU 13 35717775 35717775 single base substitution C T intron_variant MELA-AU 13 35717929 35717929 single base substitution C T intron_variant MELA-AU 13 35718129 35718129 single base substitution T A intron_variant MELA-AU 13 35718193 35718193 single base substitution G A intron_variant MELA-AU 13 35718693 35718693 single base substitution G A intron_variant MELA-AU 13 35719198 35719198 single base substitution A G intron_variant MELA-AU 13 35719293 35719293 single base substitution T G intron_variant MELA-AU 13 35719330 35719330 single base substitution T G intron_variant MELA-AU 13 35719367 35719367 single base substitution C T intron_variant MELA-AU 13 35719407 35719407 single base substitution A C intron_variant MELA-AU 13 35719570 35719570 single base substitution C T intron_variant MELA-AU 13 35719773 35719773 single base substitution C G intron_variant MELA-AU 13 35719782 35719782 single base substitution G A intron_variant MELA-AU 13 35720268 35720268 single base substitution C T intron_variant MELA-AU 13 35720615 35720615 single base substitution C T intron_variant MELA-AU 13 35721175 35721175 single base substitution C T intron_variant MELA-AU 13 35721234 35721234 single base substitution C T intron_variant MELA-AU 13 35721307 35721307 single base substitution T C intron_variant MELA-AU 13 35721497 35721497 single base substitution C T intron_variant MELA-AU 13 35721570 35721571 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35721612 35721612 single base substitution G A intron_variant MELA-AU 13 35721649 35721649 single base substitution C T intron_variant MELA-AU 13 35721661 35721661 single base substitution A T intron_variant MELA-AU 13 35721923 35721923 single base substitution G A intron_variant MELA-AU 13 35722042 35722042 single base substitution G A intron_variant MELA-AU 13 35722138 35722138 single base substitution C T intron_variant MELA-AU 13 35722187 35722187 single base substitution C T intron_variant MELA-AU 13 35722415 35722415 single base substitution G T intron_variant MELA-AU 13 35722531 35722531 single base substitution T C intron_variant MELA-AU 13 35722690 35722690 single base substitution A T intron_variant MELA-AU 13 35722902 35722902 single base substitution G A intron_variant MELA-AU 13 35722998 35722998 single base substitution A G intron_variant MELA-AU 13 35723751 35723751 single base substitution C T intron_variant MELA-AU 13 35723782 35723782 single base substitution G A intron_variant MELA-AU 13 35724166 35724166 single base substitution C T intron_variant MELA-AU 13 35724217 35724217 single base substitution G A intron_variant MELA-AU 13 35724238 35724238 single base substitution C T intron_variant MELA-AU 13 35724266 35724266 single base substitution G A intron_variant MELA-AU 13 35724322 35724322 single base substitution G C intron_variant MELA-AU 13 35724475 35724475 single base substitution C T intron_variant MELA-AU 13 35724671 35724672 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35724820 35724820 single base substitution C T intron_variant MELA-AU 13 35725230 35725230 single base substitution C T intron_variant MELA-AU 13 35725305 35725305 single base substitution C T intron_variant MELA-AU 13 35725999 35725999 single base substitution C T intron_variant MELA-AU 13 35726789 35726789 single base substitution G A intron_variant MELA-AU 13 35726858 35726858 single base substitution C T intron_variant MELA-AU 13 35727152 35727152 single base substitution C G intron_variant MELA-AU 13 35727213 35727213 single base substitution C T intron_variant MELA-AU 13 35727370 35727370 single base substitution C T intron_variant MELA-AU 13 35727391 35727391 single base substitution C T intron_variant MELA-AU 13 35727834 35727834 single base substitution A T intron_variant MELA-AU 13 35728205 35728205 single base substitution T A intron_variant MELA-AU 13 35728257 35728257 single base substitution C T intron_variant MELA-AU 13 35728814 35728814 single base substitution C T intron_variant MELA-AU 13 35728828 35728828 single base substitution G A intron_variant MELA-AU 13 35728957 35728957 single base substitution C T intron_variant MELA-AU 13 35729178 35729178 single base substitution G A intron_variant MELA-AU 13 35729193 35729194 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35730054 35730054 single base substitution T A intron_variant MELA-AU 13 35730071 35730071 single base substitution C T intron_variant MELA-AU 13 35730101 35730101 single base substitution C T intron_variant MELA-AU 13 35730410 35730410 single base substitution C T intron_variant MELA-AU 13 35730508 35730508 single base substitution A C intron_variant MELA-AU 13 35730517 35730517 single base substitution T C intron_variant MELA-AU 13 35730608 35730608 single base substitution C T intron_variant MELA-AU 13 35731017 35731017 single base substitution G A intron_variant MELA-AU 13 35731209 35731209 single base substitution C T splice_region_variant MELA-AU 13 35731323 35731323 single base substitution C T synonymous_variant F920F 2760C>T MELA-AU 13 35731359 35731359 single base substitution G A stop_gained W932* 2796G>A MELA-AU 13 35731484 35731484 single base substitution C T intron_variant MELA-AU 13 35731485 35731485 single base substitution C T intron_variant MELA-AU 13 35731663 35731663 single base substitution C T intron_variant MELA-AU 13 35731667 35731667 single base substitution G A intron_variant MELA-AU 13 35732546 35732546 single base substitution A T intron_variant MELA-AU 13 35732730 35732730 single base substitution G A intron_variant MELA-AU 13 35732810 35732810 single base substitution T G intron_variant MELA-AU 13 35732995 35732995 single base substitution G A intron_variant MELA-AU 13 35733219 35733219 single base substitution G A missense_variant E971K 2911G>A MELA-AU 13 35734454 35734454 single base substitution T G intron_variant MELA-AU 13 35734531 35734531 single base substitution G A intron_variant MELA-AU 13 35734779 35734779 single base substitution C T intron_variant MELA-AU 13 35734851 35734851 single base substitution T A intron_variant MELA-AU 13 35734947 35734947 single base substitution C T intron_variant MELA-AU 13 35735168 35735168 single base substitution C T intron_variant MELA-AU 13 35735947 35735947 single base substitution C T stop_gained R1308* 3922C>T MELA-AU 13 35735948 35735948 single base substitution G A missense_variant R1308Q 3923G>A MELA-AU 13 35735995 35735995 single base substitution C T missense_variant P1324S 3970C>T MELA-AU 13 35736067 35736067 single base substitution C T synonymous_variant L1348L 4042C>T MELA-AU 13 35736145 35736145 single base substitution A G intron_variant MELA-AU 13 35736673 35736673 single base substitution C T intron_variant MELA-AU 13 35736788 35736788 single base substitution C T intron_variant MELA-AU 13 35737134 35737134 single base substitution G A intron_variant MELA-AU 13 35737281 35737281 single base substitution T G intron_variant MELA-AU 13 35737331 35737331 single base substitution A T intron_variant MELA-AU 13 35737490 35737490 single base substitution C T intron_variant MELA-AU 13 35737735 35737735 single base substitution G A intron_variant MELA-AU 13 35737843 35737843 single base substitution A G intron_variant MELA-AU 13 35737877 35737877 single base substitution C T intron_variant MELA-AU 13 35738155 35738155 single base substitution G A intron_variant MELA-AU 13 35738662 35738662 single base substitution C T intron_variant MELA-AU 13 35738663 35738663 single base substitution C T intron_variant MELA-AU 13 35739000 35739000 single base substitution C T intron_variant MELA-AU 13 35739498 35739498 single base substitution C T intron_variant MELA-AU 13 35740568 35740568 single base substitution C T intron_variant MELA-AU 13 35740797 35740797 single base substitution C T intron_variant MELA-AU 13 35740956 35740956 single base substitution G A intron_variant MELA-AU 13 35741045 35741045 single base substitution G A intron_variant MELA-AU 13 35741310 35741310 single base substitution G A intron_variant MELA-AU 13 35741643 35741643 single base substitution G A intron_variant MELA-AU 13 35741935 35741935 single base substitution G A intron_variant MELA-AU 13 35742114 35742114 single base substitution C T intron_variant MELA-AU 13 35742677 35742677 single base substitution C T intron_variant MELA-AU 13 35742703 35742703 deletion of <=200bp T - intron_variant MELA-AU 13 35742755 35742755 single base substitution G A intron_variant MELA-AU 13 35743054 35743054 single base substitution C T intron_variant MELA-AU 13 35743405 35743405 single base substitution C A intron_variant MELA-AU 13 35743988 35743988 single base substitution G A intron_variant MELA-AU 13 35744086 35744086 single base substitution G A intron_variant MELA-AU 13 35744210 35744210 single base substitution A C intron_variant MELA-AU 13 35744498 35744498 single base substitution G A intron_variant MELA-AU 13 35744584 35744584 single base substitution G A intron_variant MELA-AU 13 35745050 35745050 single base substitution C T intron_variant MELA-AU 13 35745061 35745061 single base substitution C T intron_variant MELA-AU 13 35745154 35745154 single base substitution T G intron_variant MELA-AU 13 35745395 35745395 single base substitution C T intron_variant MELA-AU 13 35745548 35745548 single base substitution A G missense_variant N1458S 4373A>G MELA-AU 13 35745548 35745548 single base substitution A G missense_variant N1461S 4382A>G MELA-AU 13 35745720 35745720 single base substitution G A intron_variant MELA-AU 13 35745780 35745780 single base substitution G A intron_variant MELA-AU 13 35745791 35745791 single base substitution G A intron_variant MELA-AU 13 35745850 35745850 single base substitution C T intron_variant MELA-AU 13 35746334 35746334 single base substitution C T intron_variant MELA-AU 13 35746409 35746409 single base substitution C T intron_variant MELA-AU 13 35746945 35746945 single base substitution C T intron_variant MELA-AU 13 35746963 35746963 single base substitution G A intron_variant MELA-AU 13 35747156 35747156 single base substitution T A intron_variant MELA-AU 13 35747603 35747603 single base substitution T G missense_variant C1473G 4417T>G MELA-AU 13 35747603 35747603 single base substitution T G missense_variant C1476G 4426T>G MELA-AU 13 35747954 35747954 single base substitution T A intron_variant MELA-AU 13 35748111 35748111 single base substitution G A intron_variant MELA-AU 13 35748166 35748166 single base substitution T G intron_variant MELA-AU 13 35748199 35748199 single base substitution C T intron_variant MELA-AU 13 35748383 35748383 single base substitution C T intron_variant MELA-AU 13 35748632 35748632 single base substitution T C intron_variant MELA-AU 13 35749039 35749039 single base substitution C T intron_variant MELA-AU 13 35749277 35749277 single base substitution C T intron_variant MELA-AU 13 35749577 35749577 single base substitution T G intron_variant MELA-AU 13 35749774 35749774 single base substitution G A intron_variant MELA-AU 13 35749842 35749842 single base substitution G A intron_variant MELA-AU 13 35750035 35750035 single base substitution C T intron_variant MELA-AU 13 35750125 35750125 single base substitution C T intron_variant MELA-AU 13 35750154 35750154 single base substitution C T intron_variant MELA-AU 13 35750330 35750330 single base substitution G A intron_variant MELA-AU 13 35750362 35750362 single base substitution C T intron_variant MELA-AU 13 35750365 35750365 single base substitution G A intron_variant MELA-AU 13 35750396 35750396 single base substitution C T intron_variant MELA-AU 13 35750436 35750436 single base substitution C T intron_variant MELA-AU 13 35750977 35750977 single base substitution G A intron_variant MELA-AU 13 35750996 35750996 single base substitution G A intron_variant MELA-AU 13 35751166 35751166 single base substitution C T missense_variant P1527S 4579C>T MELA-AU 13 35751166 35751166 single base substitution C T missense_variant P1530S 4588C>T MELA-AU 13 35751234 35751234 single base substitution G A synonymous_variant R1549R 4647G>A MELA-AU 13 35751234 35751234 single base substitution G A synonymous_variant R1552R 4656G>A MELA-AU 13 35751258 35751258 single base substitution G A intron_variant MELA-AU 13 35751290 35751290 single base substitution C T intron_variant MELA-AU 13 35751291 35751292 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 13 35751606 35751606 single base substitution G A intron_variant MELA-AU 13 35751607 35751607 single base substitution G A intron_variant MELA-AU 13 35751919 35751919 single base substitution C T intron_variant MELA-AU 13 35751962 35751962 single base substitution G A intron_variant MELA-AU 13 35752148 35752148 single base substitution C T intron_variant MELA-AU 13 35752254 35752254 single base substitution G A intron_variant MELA-AU 13 35752483 35752483 single base substitution G A intron_variant MELA-AU 13 35752539 35752539 single base substitution G A intron_variant MELA-AU 13 35752632 35752632 single base substitution G A intron_variant MELA-AU 13 35752978 35752978 single base substitution G A intron_variant MELA-AU 13 35752991 35752991 single base substitution G A intron_variant MELA-AU 13 35753200 35753200 single base substitution C T intron_variant MELA-AU 13 35753569 35753569 single base substitution T C intron_variant MELA-AU 13 35754006 35754006 single base substitution C T intron_variant MELA-AU 13 35754112 35754112 single base substitution G A intron_variant MELA-AU 13 35754255 35754255 single base substitution C T intron_variant MELA-AU 13 35754768 35754768 single base substitution G A intron_variant MELA-AU 13 35754777 35754777 single base substitution C T intron_variant MELA-AU 13 35754837 35754837 single base substitution G A intron_variant MELA-AU 13 35755001 35755001 single base substitution C T intron_variant MELA-AU 13 35755020 35755020 single base substitution C T intron_variant MELA-AU 13 35755193 35755193 single base substitution C T intron_variant MELA-AU 13 35755200 35755200 single base substitution C T intron_variant MELA-AU 13 35755395 35755395 single base substitution G A intron_variant MELA-AU 13 35755442 35755442 single base substitution C T intron_variant MELA-AU 13 35755600 35755600 single base substitution C T intron_variant MELA-AU 13 35755732 35755732 single base substitution C T intron_variant MELA-AU 13 35755789 35755789 single base substitution T C intron_variant MELA-AU 13 35756012 35756012 single base substitution T A intron_variant MELA-AU 13 35756021 35756021 single base substitution C T intron_variant MELA-AU 13 35756086 35756086 single base substitution G A intron_variant MELA-AU 13 35756393 35756393 single base substitution C T intron_variant MELA-AU 13 35756544 35756544 single base substitution C T synonymous_variant F1567F 4701C>T MELA-AU 13 35756544 35756544 single base substitution C T synonymous_variant F1570F 4710C>T MELA-AU 13 35756570 35756570 single base substitution A G missense_variant Y1576C 4727A>G MELA-AU 13 35756570 35756570 single base substitution A G missense_variant Y1579C 4736A>G MELA-AU 13 35756870 35756870 single base substitution C T intron_variant MELA-AU 13 35756883 35756883 single base substitution G A intron_variant MELA-AU 13 35756950 35756950 single base substitution C T intron_variant MELA-AU 13 35757067 35757067 single base substitution A T intron_variant MELA-AU 13 35757102 35757102 single base substitution T G intron_variant MELA-AU 13 35757358 35757358 single base substitution C A intron_variant MELA-AU 13 35757490 35757490 single base substitution C T intron_variant MELA-AU 13 35757701 35757701 single base substitution C T intron_variant MELA-AU 13 35757751 35757751 single base substitution C T intron_variant MELA-AU 13 35757812 35757812 single base substitution T C intron_variant MELA-AU 13 35758099 35758099 single base substitution G A intron_variant MELA-AU 13 35758159 35758159 single base substitution C T synonymous_variant F1623F 4869C>T MELA-AU 13 35758159 35758159 single base substitution C T synonymous_variant F1626F 4878C>T MELA-AU 13 35758175 35758175 single base substitution C T missense_variant P1629S 4885C>T MELA-AU 13 35758175 35758175 single base substitution C T missense_variant P1632S 4894C>T MELA-AU 13 35758253 35758253 single base substitution C T intron_variant MELA-AU 13 35758278 35758278 single base substitution C T intron_variant MELA-AU 13 35758285 35758285 single base substitution T C intron_variant MELA-AU 13 35758363 35758363 single base substitution G A intron_variant MELA-AU 13 35758424 35758424 single base substitution G A intron_variant MELA-AU 13 35758564 35758564 single base substitution G A intron_variant MELA-AU 13 35758625 35758625 single base substitution G A intron_variant MELA-AU 13 35758700 35758700 single base substitution G A intron_variant MELA-AU 13 35758723 35758723 single base substitution A G intron_variant MELA-AU 13 35758835 35758835 single base substitution C T intron_variant MELA-AU 13 35758845 35758845 single base substitution G A intron_variant MELA-AU 13 35759047 35759047 single base substitution C T intron_variant MELA-AU 13 35759125 35759125 single base substitution G A intron_variant MELA-AU 13 35759181 35759181 single base substitution C T intron_variant MELA-AU 13 35759240 35759240 single base substitution G A intron_variant MELA-AU 13 35759403 35759403 single base substitution A T intron_variant MELA-AU 13 35760129 35760129 single base substitution G A intron_variant MELA-AU 13 35760158 35760158 single base substitution C T intron_variant MELA-AU 13 35760210 35760210 single base substitution G A intron_variant MELA-AU 13 35760525 35760525 single base substitution G A intron_variant MELA-AU 13 35760630 35760630 single base substitution C T intron_variant MELA-AU 13 35760840 35760840 single base substitution C T intron_variant MELA-AU 13 35761246 35761246 single base substitution C T intron_variant MELA-AU 13 35761312 35761312 single base substitution T C intron_variant MELA-AU 13 35761420 35761420 single base substitution C T intron_variant MELA-AU 13 35761526 35761526 single base substitution G A intron_variant MELA-AU 13 35761777 35761777 single base substitution C T intron_variant MELA-AU 13 35761989 35761989 single base substitution C T intron_variant MELA-AU 13 35762077 35762077 single base substitution C T intron_variant MELA-AU 13 35762164 35762164 single base substitution C T intron_variant MELA-AU 13 35762340 35762340 single base substitution G A intron_variant MELA-AU 13 35762344 35762344 single base substitution G A intron_variant MELA-AU 13 35762385 35762385 single base substitution C T intron_variant MELA-AU 13 35762973 35762973 single base substitution C T intron_variant MELA-AU 13 35763287 35763287 single base substitution C T intron_variant MELA-AU 13 35763426 35763426 single base substitution A G intron_variant MELA-AU 13 35763627 35763627 single base substitution T C intron_variant MELA-AU 13 35763630 35763630 single base substitution C T intron_variant MELA-AU 13 35763703 35763703 single base substitution C T intron_variant MELA-AU 13 35763799 35763799 deletion of <=200bp A - intron_variant MELA-AU 13 35764058 35764058 single base substitution T A intron_variant MELA-AU 13 35764222 35764222 single base substitution G A intron_variant MELA-AU 13 35764259 35764259 single base substitution G A intron_variant MELA-AU 13 35764384 35764384 single base substitution G A intron_variant MELA-AU 13 35764462 35764462 single base substitution C T intron_variant MELA-AU 13 35764478 35764478 single base substitution G A intron_variant MELA-AU 13 35764486 35764486 single base substitution G A intron_variant MELA-AU 13 35764515 35764515 single base substitution C T intron_variant MELA-AU 13 35764547 35764547 single base substitution G A intron_variant MELA-AU 13 35764631 35764631 single base substitution G A intron_variant MELA-AU 13 35764732 35764732 single base substitution G A intron_variant MELA-AU 13 35764760 35764760 single base substitution G A intron_variant MELA-AU 13 35764809 35764809 single base substitution C T intron_variant MELA-AU 13 35764883 35764883 single base substitution G A intron_variant MELA-AU 13 35765073 35765073 single base substitution A G intron_variant MELA-AU 13 35765144 35765144 single base substitution C T intron_variant MELA-AU 13 35765163 35765163 single base substitution G A intron_variant MELA-AU 13 35765181 35765181 single base substitution G A intron_variant MELA-AU 13 35765233 35765233 single base substitution G A intron_variant MELA-AU 13 35765333 35765333 single base substitution G A intron_variant MELA-AU 13 35765353 35765353 single base substitution G A intron_variant MELA-AU 13 35765412 35765412 single base substitution C T intron_variant MELA-AU 13 35765446 35765447 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35765511 35765511 single base substitution G A intron_variant MELA-AU 13 35765533 35765533 single base substitution C T intron_variant MELA-AU 13 35765534 35765534 single base substitution A T intron_variant MELA-AU 13 35765597 35765597 single base substitution C T intron_variant MELA-AU 13 35765631 35765631 single base substitution C T intron_variant MELA-AU 13 35765952 35765952 single base substitution G A intron_variant MELA-AU 13 35765960 35765960 single base substitution C T intron_variant MELA-AU 13 35765965 35765965 single base substitution A G intron_variant MELA-AU 13 35766002 35766002 single base substitution C T intron_variant MELA-AU 13 35766005 35766005 single base substitution G A intron_variant MELA-AU 13 35766130 35766130 single base substitution G A intron_variant MELA-AU 13 35766470 35766470 single base substitution G C intron_variant MELA-AU 13 35766942 35766942 single base substitution C T intron_variant MELA-AU 13 35766963 35766963 single base substitution G A intron_variant MELA-AU 13 35767276 35767276 single base substitution T C intron_variant MELA-AU 13 35767770 35767770 single base substitution C T intron_variant MELA-AU 13 35767853 35767853 single base substitution G A intron_variant MELA-AU 13 35767870 35767870 single base substitution C T intron_variant MELA-AU 13 35767991 35767991 single base substitution C T intron_variant MELA-AU 13 35768004 35768004 single base substitution G A intron_variant MELA-AU 13 35768079 35768079 single base substitution A G intron_variant MELA-AU 13 35768214 35768214 single base substitution C T intron_variant MELA-AU 13 35769025 35769025 single base substitution G A intron_variant MELA-AU 13 35769315 35769315 single base substitution A G intron_variant MELA-AU 13 35769370 35769370 single base substitution C T intron_variant MELA-AU 13 35769461 35769461 single base substitution G A intron_variant MELA-AU 13 35769507 35769507 single base substitution G A intron_variant MELA-AU 13 35769518 35769518 single base substitution G A intron_variant MELA-AU 13 35769645 35769645 single base substitution C T intron_variant MELA-AU 13 35770018 35770018 single base substitution C T missense_variant P1646S 4936C>T MELA-AU 13 35770018 35770018 single base substitution C T missense_variant P1649S 4945C>T MELA-AU 13 35770461 35770461 single base substitution C T intron_variant MELA-AU 13 35770483 35770483 single base substitution G A intron_variant MELA-AU 13 35770630 35770630 single base substitution C T intron_variant MELA-AU 13 35770735 35770735 single base substitution C T intron_variant MELA-AU 13 35770774 35770774 single base substitution G A intron_variant MELA-AU 13 35770958 35770958 single base substitution C T intron_variant MELA-AU 13 35771127 35771127 insertion of <=200bp - T intron_variant MELA-AU 13 35771136 35771136 single base substitution C T intron_variant MELA-AU 13 35771366 35771366 single base substitution C T intron_variant MELA-AU 13 35771410 35771410 single base substitution C T intron_variant MELA-AU 13 35771462 35771462 single base substitution T A intron_variant MELA-AU 13 35771491 35771491 single base substitution G A intron_variant MELA-AU 13 35771831 35771831 single base substitution G A intron_variant MELA-AU 13 35771935 35771936 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35772103 35772103 single base substitution G A intron_variant MELA-AU 13 35772221 35772221 single base substitution T A intron_variant MELA-AU 13 35772342 35772342 single base substitution G A intron_variant MELA-AU 13 35772535 35772535 single base substitution G A intron_variant MELA-AU 13 35772678 35772678 single base substitution G A intron_variant MELA-AU 13 35773096 35773096 single base substitution C T intron_variant MELA-AU 13 35773541 35773541 single base substitution G A intron_variant MELA-AU 13 35773736 35773736 single base substitution C T intron_variant MELA-AU 13 35773788 35773788 single base substitution G A intron_variant MELA-AU 13 35774010 35774010 single base substitution T A intron_variant MELA-AU 13 35774307 35774307 single base substitution C T intron_variant MELA-AU 13 35774799 35774799 single base substitution G A intron_variant MELA-AU 13 35775008 35775008 single base substitution G A intron_variant MELA-AU 13 35775012 35775012 single base substitution G A intron_variant MELA-AU 13 35775219 35775219 single base substitution C T intron_variant MELA-AU 13 35775251 35775251 single base substitution C T intron_variant MELA-AU 13 35775324 35775324 single base substitution G A intron_variant MELA-AU 13 35775507 35775507 single base substitution C G intron_variant MELA-AU 13 35775623 35775623 single base substitution A T intron_variant MELA-AU 13 35775681 35775681 single base substitution C T intron_variant MELA-AU 13 35775683 35775683 single base substitution A T intron_variant MELA-AU 13 35775852 35775852 single base substitution C T intron_variant MELA-AU 13 35775916 35775916 single base substitution C T intron_variant MELA-AU 13 35775941 35775941 single base substitution C T intron_variant MELA-AU 13 35775959 35775959 single base substitution C T intron_variant MELA-AU 13 35776071 35776071 single base substitution C A intron_variant MELA-AU 13 35776149 35776149 single base substitution G A intron_variant MELA-AU 13 35776153 35776153 single base substitution G A intron_variant MELA-AU 13 35776155 35776155 single base substitution T A intron_variant MELA-AU 13 35776157 35776157 single base substitution A C intron_variant MELA-AU 13 35776161 35776161 single base substitution T C intron_variant MELA-AU 13 35776168 35776168 single base substitution G A intron_variant MELA-AU 13 35776440 35776440 single base substitution C T intron_variant MELA-AU 13 35776920 35776920 single base substitution G A intron_variant MELA-AU 13 35777010 35777010 single base substitution C T intron_variant MELA-AU 13 35777084 35777084 single base substitution C T intron_variant MELA-AU 13 35777098 35777098 single base substitution C T intron_variant MELA-AU 13 35777240 35777240 single base substitution C T intron_variant MELA-AU 13 35777264 35777264 single base substitution C T intron_variant MELA-AU 13 35777874 35777874 single base substitution T A intron_variant MELA-AU 13 35778025 35778025 single base substitution T A intron_variant MELA-AU 13 35778342 35778343 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 13 35778570 35778570 single base substitution G A intron_variant MELA-AU 13 35778590 35778590 single base substitution C T intron_variant MELA-AU 13 35778731 35778731 single base substitution G A intron_variant MELA-AU 13 35779425 35779425 single base substitution T A intron_variant MELA-AU 13 35779534 35779534 single base substitution C T intron_variant MELA-AU 13 35779578 35779578 single base substitution C T intron_variant MELA-AU 13 35779734 35779734 single base substitution C T intron_variant MELA-AU 13 35779913 35779913 single base substitution C T intron_variant MELA-AU 13 35780053 35780053 single base substitution G A intron_variant MELA-AU 13 35780055 35780055 single base substitution G A intron_variant MELA-AU 13 35780541 35780541 single base substitution C T intron_variant MELA-AU 13 35780711 35780711 single base substitution C T intron_variant MELA-AU 13 35780905 35780905 single base substitution G A intron_variant MELA-AU 13 35781036 35781036 single base substitution G A intron_variant MELA-AU 13 35781183 35781183 single base substitution G A intron_variant MELA-AU 13 35781197 35781197 single base substitution A T intron_variant MELA-AU 13 35781312 35781312 single base substitution G A intron_variant MELA-AU 13 35781624 35781624 single base substitution T G intron_variant MELA-AU 13 35781748 35781748 single base substitution C T intron_variant MELA-AU 13 35781837 35781837 single base substitution G A intron_variant MELA-AU 13 35782232 35782232 single base substitution C T intron_variant MELA-AU 13 35782343 35782343 single base substitution G A intron_variant MELA-AU 13 35782666 35782666 single base substitution A G intron_variant MELA-AU 13 35783014 35783027 deletion of <=200bp TGATACTCATCTTT - intron_variant MELA-AU 13 35783092 35783092 single base substitution A G intron_variant MELA-AU 13 35783321 35783321 single base substitution A G intron_variant MELA-AU 13 35783633 35783633 single base substitution A C intron_variant MELA-AU 13 35783660 35783660 single base substitution C T intron_variant MELA-AU 13 35784109 35784109 single base substitution C T intron_variant MELA-AU 13 35784215 35784215 single base substitution C T intron_variant MELA-AU 13 35784287 35784287 single base substitution G A intron_variant MELA-AU 13 35784408 35784408 single base substitution C T intron_variant MELA-AU 13 35784924 35784924 single base substitution C T intron_variant MELA-AU 13 35784951 35784951 single base substitution C T intron_variant MELA-AU 13 35785491 35785491 single base substitution C T intron_variant MELA-AU 13 35785700 35785700 single base substitution C T intron_variant MELA-AU 13 35785851 35785851 single base substitution G A intron_variant MELA-AU 13 35786559 35786559 single base substitution G A intron_variant MELA-AU 13 35786797 35786797 single base substitution G A intron_variant MELA-AU 13 35787223 35787223 single base substitution C T intron_variant MELA-AU 13 35787225 35787225 single base substitution C T intron_variant MELA-AU 13 35787328 35787328 single base substitution G A intron_variant MELA-AU 13 35788116 35788116 single base substitution C T intron_variant MELA-AU 13 35788193 35788193 single base substitution C T intron_variant MELA-AU 13 35788266 35788266 single base substitution A T intron_variant MELA-AU 13 35788734 35788734 single base substitution C T intron_variant MELA-AU 13 35788967 35788967 single base substitution C T intron_variant MELA-AU 13 35789028 35789028 single base substitution G A intron_variant MELA-AU 13 35789253 35789253 single base substitution C G intron_variant MELA-AU 13 35789423 35789423 single base substitution G A intron_variant MELA-AU 13 35789441 35789441 single base substitution C T intron_variant MELA-AU 13 35789547 35789547 single base substitution G A intron_variant MELA-AU 13 35789830 35789830 single base substitution A G intron_variant MELA-AU 13 35789855 35789855 single base substitution C T intron_variant MELA-AU 13 35789967 35789967 single base substitution G A intron_variant MELA-AU 13 35790162 35790162 single base substitution C T intron_variant MELA-AU 13 35790190 35790190 single base substitution G A intron_variant MELA-AU 13 35790221 35790221 single base substitution C T intron_variant MELA-AU 13 35790234 35790234 single base substitution G A intron_variant MELA-AU 13 35791591 35791591 single base substitution C T intron_variant MELA-AU 13 35791789 35791790 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 13 35791917 35791917 single base substitution G A intron_variant MELA-AU 13 35792111 35792112 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35792268 35792268 single base substitution C T intron_variant MELA-AU 13 35792614 35792614 single base substitution C T intron_variant MELA-AU 13 35792632 35792632 single base substitution C T intron_variant MELA-AU 13 35792661 35792661 single base substitution A T intron_variant MELA-AU 13 35792983 35792983 single base substitution C T intron_variant MELA-AU 13 35793543 35793543 single base substitution A C intron_variant MELA-AU 13 35793747 35793747 single base substitution C T intron_variant MELA-AU 13 35793850 35793850 single base substitution C T intron_variant MELA-AU 13 35793896 35793896 single base substitution C T intron_variant MELA-AU 13 35793988 35793988 single base substitution T A intron_variant MELA-AU 13 35794108 35794108 single base substitution G A intron_variant MELA-AU 13 35794111 35794111 single base substitution C T intron_variant MELA-AU 13 35794206 35794206 single base substitution G A intron_variant MELA-AU 13 35794213 35794213 single base substitution C T intron_variant MELA-AU 13 35794226 35794226 single base substitution G A intron_variant MELA-AU 13 35794233 35794233 single base substitution C T intron_variant MELA-AU 13 35794244 35794244 single base substitution C T intron_variant MELA-AU 13 35794257 35794257 single base substitution C T intron_variant MELA-AU 13 35794277 35794277 single base substitution C T intron_variant MELA-AU 13 35794482 35794482 single base substitution C T intron_variant MELA-AU 13 35794588 35794588 single base substitution C T intron_variant MELA-AU 13 35794690 35794690 single base substitution T G intron_variant MELA-AU 13 35794816 35794816 single base substitution G A intron_variant MELA-AU 13 35794846 35794846 single base substitution T C intron_variant MELA-AU 13 35794878 35794878 single base substitution C T intron_variant MELA-AU 13 35795035 35795035 single base substitution C T intron_variant MELA-AU 13 35795037 35795037 single base substitution C T intron_variant MELA-AU 13 35795168 35795168 single base substitution C T intron_variant MELA-AU 13 35795203 35795203 single base substitution C T intron_variant MELA-AU 13 35795488 35795488 single base substitution A T intron_variant MELA-AU 13 35795510 35795510 single base substitution C T intron_variant MELA-AU 13 35795588 35795588 single base substitution G A intron_variant MELA-AU 13 35795751 35795751 single base substitution C T intron_variant MELA-AU 13 35795921 35795921 single base substitution C T intron_variant MELA-AU 13 35795950 35795950 single base substitution C T intron_variant MELA-AU 13 35795971 35795971 single base substitution A G intron_variant MELA-AU 13 35796020 35796020 single base substitution C T intron_variant MELA-AU 13 35796052 35796052 single base substitution C T intron_variant MELA-AU 13 35796116 35796116 single base substitution C T intron_variant MELA-AU 13 35796218 35796218 single base substitution T G intron_variant MELA-AU 13 35796316 35796316 single base substitution C T intron_variant MELA-AU 13 35796409 35796409 single base substitution C T intron_variant MELA-AU 13 35796439 35796439 single base substitution G A intron_variant MELA-AU 13 35796622 35796622 single base substitution G A intron_variant MELA-AU 13 35796830 35796830 single base substitution C T intron_variant MELA-AU 13 35797058 35797058 single base substitution G A intron_variant MELA-AU 13 35797111 35797111 single base substitution A T intron_variant MELA-AU 13 35797162 35797162 single base substitution G A intron_variant MELA-AU 13 35797213 35797213 single base substitution G A intron_variant MELA-AU 13 35797753 35797753 single base substitution T C intron_variant MELA-AU 13 35797952 35797952 single base substitution C T intron_variant MELA-AU 13 35797975 35797975 single base substitution C T intron_variant MELA-AU 13 35798007 35798007 single base substitution A G intron_variant MELA-AU 13 35798382 35798382 single base substitution C T intron_variant MELA-AU 13 35798417 35798417 single base substitution T C intron_variant MELA-AU 13 35798430 35798430 single base substitution C T intron_variant MELA-AU 13 35798433 35798433 single base substitution G A intron_variant MELA-AU 13 35798767 35798767 single base substitution G A intron_variant MELA-AU 13 35798916 35798916 single base substitution T C intron_variant MELA-AU 13 35799397 35799397 single base substitution C T intron_variant MELA-AU 13 35799565 35799565 single base substitution C T intron_variant MELA-AU 13 35799587 35799587 single base substitution G A intron_variant MELA-AU 13 35799656 35799656 single base substitution G A intron_variant MELA-AU 13 35799804 35799804 single base substitution A C intron_variant MELA-AU 13 35799835 35799835 single base substitution T A intron_variant MELA-AU 13 35799928 35799928 single base substitution C A intron_variant MELA-AU 13 35799943 35799943 single base substitution C T intron_variant MELA-AU 13 35800293 35800293 single base substitution A C intron_variant MELA-AU 13 35800370 35800370 single base substitution G A intron_variant MELA-AU 13 35800496 35800496 single base substitution C T intron_variant MELA-AU 13 35800519 35800519 single base substitution C T intron_variant MELA-AU 13 35800522 35800522 single base substitution G A intron_variant MELA-AU 13 35800611 35800611 single base substitution G A intron_variant MELA-AU 13 35800657 35800657 single base substitution G T intron_variant MELA-AU 13 35800807 35800807 single base substitution G A intron_variant MELA-AU 13 35800830 35800830 single base substitution T C intron_variant MELA-AU 13 35800883 35800883 single base substitution G A intron_variant MELA-AU 13 35801065 35801065 single base substitution A T intron_variant MELA-AU 13 35801076 35801076 single base substitution G A intron_variant MELA-AU 13 35801178 35801178 single base substitution C T intron_variant MELA-AU 13 35801294 35801294 single base substitution C T intron_variant MELA-AU 13 35801302 35801302 single base substitution C T intron_variant MELA-AU 13 35801649 35801649 single base substitution C T intron_variant MELA-AU 13 35801794 35801794 single base substitution G A intron_variant MELA-AU 13 35802145 35802145 single base substitution G A intron_variant MELA-AU 13 35802277 35802277 single base substitution G A intron_variant MELA-AU 13 35802282 35802282 single base substitution C T intron_variant MELA-AU 13 35802332 35802332 single base substitution A T intron_variant MELA-AU 13 35802375 35802375 single base substitution C T intron_variant MELA-AU 13 35802433 35802433 single base substitution G A intron_variant MELA-AU 13 35802670 35802670 single base substitution C T intron_variant MELA-AU 13 35802867 35802867 single base substitution G A intron_variant MELA-AU 13 35802873 35802873 single base substitution T C intron_variant MELA-AU 13 35802934 35802934 single base substitution G A intron_variant MELA-AU 13 35802937 35802937 insertion of <=200bp - A intron_variant MELA-AU 13 35803303 35803303 single base substitution G A intron_variant MELA-AU 13 35803918 35803919 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35803995 35803995 single base substitution T A intron_variant MELA-AU 13 35804237 35804237 single base substitution A G intron_variant MELA-AU 13 35804666 35804666 single base substitution G A intron_variant MELA-AU 13 35804723 35804723 single base substitution G A intron_variant MELA-AU 13 35804773 35804774 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35804885 35804885 single base substitution C T intron_variant MELA-AU 13 35805164 35805164 single base substitution C A intron_variant MELA-AU 13 35805388 35805388 single base substitution C T intron_variant MELA-AU 13 35805409 35805409 single base substitution C T intron_variant MELA-AU 13 35805510 35805510 deletion of <=200bp T - intron_variant MELA-AU 13 35805726 35805726 single base substitution G T intron_variant MELA-AU 13 35805999 35805999 single base substitution C T intron_variant MELA-AU 13 35806085 35806085 single base substitution C T intron_variant MELA-AU 13 35806162 35806162 single base substitution G A intron_variant MELA-AU 13 35806202 35806202 single base substitution C T intron_variant MELA-AU 13 35806233 35806233 single base substitution C T intron_variant MELA-AU 13 35806285 35806285 single base substitution C T intron_variant MELA-AU 13 35806414 35806414 single base substitution C T intron_variant MELA-AU 13 35806482 35806482 single base substitution G A intron_variant MELA-AU 13 35806516 35806516 single base substitution C T intron_variant MELA-AU 13 35806761 35806761 single base substitution G A splice_region_variant MELA-AU 13 35807050 35807050 single base substitution A G intron_variant MELA-AU 13 35807175 35807175 single base substitution T A intron_variant MELA-AU 13 35807260 35807260 single base substitution G A intron_variant MELA-AU 13 35807340 35807340 single base substitution G A intron_variant MELA-AU 13 35807372 35807372 single base substitution A T intron_variant MELA-AU 13 35807468 35807468 single base substitution C T intron_variant MELA-AU 13 35807747 35807747 single base substitution G A intron_variant MELA-AU 13 35807897 35807897 single base substitution C T intron_variant MELA-AU 13 35807910 35807910 single base substitution A G intron_variant MELA-AU 13 35808183 35808183 single base substitution G A intron_variant MELA-AU 13 35808272 35808272 single base substitution G A intron_variant MELA-AU 13 35808283 35808283 single base substitution G A intron_variant MELA-AU 13 35808420 35808420 single base substitution C T intron_variant MELA-AU 13 35808904 35808904 single base substitution C T intron_variant MELA-AU 13 35809065 35809065 single base substitution G A intron_variant MELA-AU 13 35809096 35809096 single base substitution C T intron_variant MELA-AU 13 35809143 35809143 single base substitution G A intron_variant MELA-AU 13 35809355 35809355 single base substitution G A intron_variant MELA-AU 13 35809410 35809410 single base substitution C T intron_variant MELA-AU 13 35809546 35809546 single base substitution G A intron_variant MELA-AU 13 35810046 35810046 single base substitution G A intron_variant MELA-AU 13 35810341 35810341 single base substitution C T intron_variant MELA-AU 13 35810432 35810432 single base substitution C T intron_variant MELA-AU 13 35810505 35810505 single base substitution C T intron_variant MELA-AU 13 35810810 35810810 single base substitution G A intron_variant MELA-AU 13 35810899 35810899 single base substitution C T intron_variant MELA-AU 13 35810918 35810918 single base substitution C T intron_variant MELA-AU 13 35810991 35810991 single base substitution T A intron_variant MELA-AU 13 35811046 35811046 single base substitution G A intron_variant MELA-AU 13 35811125 35811125 single base substitution T A intron_variant MELA-AU 13 35811239 35811239 single base substitution A G intron_variant MELA-AU 13 35811403 35811403 single base substitution G A intron_variant MELA-AU 13 35811498 35811498 single base substitution C T intron_variant MELA-AU 13 35811551 35811551 single base substitution T A intron_variant MELA-AU 13 35811632 35811632 single base substitution C T intron_variant MELA-AU 13 35811690 35811690 single base substitution G A intron_variant MELA-AU 13 35811852 35811852 single base substitution G A intron_variant MELA-AU 13 35812164 35812164 single base substitution G A intron_variant MELA-AU 13 35812221 35812221 single base substitution C T intron_variant MELA-AU 13 35812474 35812474 single base substitution G A intron_variant MELA-AU 13 35812584 35812584 single base substitution C T intron_variant MELA-AU 13 35812782 35812782 single base substitution G A intron_variant MELA-AU 13 35812821 35812821 single base substitution C T intron_variant MELA-AU 13 35812881 35812881 single base substitution G A intron_variant MELA-AU 13 35813082 35813082 single base substitution T A intron_variant MELA-AU 13 35813177 35813177 single base substitution C T intron_variant MELA-AU 13 35813370 35813370 single base substitution C T intron_variant MELA-AU 13 35813490 35813490 single base substitution G A intron_variant MELA-AU 13 35813577 35813577 single base substitution T C intron_variant MELA-AU 13 35813670 35813670 single base substitution T C intron_variant MELA-AU 13 35813715 35813715 single base substitution A G intron_variant MELA-AU 13 35814005 35814005 single base substitution G A intron_variant MELA-AU 13 35814195 35814195 single base substitution C T intron_variant MELA-AU 13 35814269 35814269 single base substitution C T intron_variant MELA-AU 13 35814290 35814290 single base substitution G A intron_variant MELA-AU 13 35814418 35814418 single base substitution G A intron_variant MELA-AU 13 35814444 35814444 single base substitution C T intron_variant MELA-AU 13 35814570 35814570 single base substitution G A intron_variant MELA-AU 13 35814675 35814675 single base substitution A G intron_variant MELA-AU 13 35814725 35814725 single base substitution T C intron_variant MELA-AU 13 35814923 35814923 single base substitution G A intron_variant MELA-AU 13 35814967 35814967 single base substitution G A intron_variant MELA-AU 13 35815006 35815006 single base substitution G A intron_variant MELA-AU 13 35815017 35815017 single base substitution C T intron_variant MELA-AU 13 35815150 35815150 single base substitution C T intron_variant MELA-AU 13 35815253 35815253 single base substitution C T intron_variant MELA-AU 13 35815608 35815608 single base substitution A T intron_variant MELA-AU 13 35816036 35816036 single base substitution C T intron_variant MELA-AU 13 35816195 35816195 single base substitution C T intron_variant MELA-AU 13 35816291 35816291 single base substitution G A intron_variant MELA-AU 13 35816340 35816340 single base substitution G A intron_variant MELA-AU 13 35816383 35816383 single base substitution G A intron_variant MELA-AU 13 35816417 35816417 single base substitution T G intron_variant MELA-AU 13 35816522 35816522 single base substitution G A intron_variant MELA-AU 13 35816808 35816808 single base substitution T C intron_variant MELA-AU 13 35816883 35816883 single base substitution G A intron_variant MELA-AU 13 35816910 35816910 single base substitution G A intron_variant MELA-AU 13 35817096 35817096 single base substitution G A intron_variant MELA-AU 13 35817187 35817188 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35817378 35817378 single base substitution C T intron_variant MELA-AU 13 35818245 35818245 single base substitution G A intron_variant MELA-AU 13 35818269 35818269 single base substitution G A intron_variant MELA-AU 13 35818341 35818341 single base substitution G A intron_variant MELA-AU 13 35818504 35818504 single base substitution G A intron_variant MELA-AU 13 35818616 35818616 single base substitution A T intron_variant MELA-AU 13 35818654 35818654 single base substitution C T intron_variant MELA-AU 13 35818708 35818708 single base substitution C T intron_variant MELA-AU 13 35818787 35818787 single base substitution G A intron_variant MELA-AU 13 35818922 35818922 single base substitution G A intron_variant MELA-AU 13 35818927 35818927 single base substitution C T intron_variant MELA-AU 13 35819073 35819073 single base substitution C T intron_variant MELA-AU 13 35819198 35819198 single base substitution A T intron_variant MELA-AU 13 35819342 35819342 single base substitution C T intron_variant MELA-AU 13 35819420 35819420 single base substitution C T intron_variant MELA-AU 13 35819482 35819482 single base substitution G A intron_variant MELA-AU 13 35819756 35819756 single base substitution C T intron_variant MELA-AU 13 35819820 35819821 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 13 35819857 35819857 single base substitution C T intron_variant MELA-AU 13 35820064 35820064 single base substitution C T intron_variant MELA-AU 13 35820098 35820098 single base substitution C T intron_variant MELA-AU 13 35820200 35820200 single base substitution T C intron_variant MELA-AU 13 35820204 35820204 single base substitution C T intron_variant MELA-AU 13 35820255 35820255 single base substitution C T intron_variant MELA-AU 13 35820265 35820265 single base substitution C T intron_variant MELA-AU 13 35820327 35820327 single base substitution C T intron_variant MELA-AU 13 35820348 35820348 single base substitution C T intron_variant MELA-AU 13 35820426 35820426 single base substitution C T intron_variant MELA-AU 13 35820438 35820438 single base substitution C T intron_variant MELA-AU 13 35820476 35820476 single base substitution T A intron_variant MELA-AU 13 35820533 35820533 single base substitution C T intron_variant MELA-AU 13 35820596 35820596 single base substitution C T intron_variant MELA-AU 13 35820647 35820647 single base substitution G A intron_variant MELA-AU 13 35820659 35820659 single base substitution C T intron_variant MELA-AU 13 35820904 35820905 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 13 35821042 35821042 single base substitution A C intron_variant MELA-AU 13 35821157 35821157 single base substitution G A intron_variant MELA-AU 13 35821174 35821174 single base substitution C T intron_variant MELA-AU 13 35821279 35821279 single base substitution C T intron_variant MELA-AU 13 35821338 35821338 single base substitution G A intron_variant MELA-AU 13 35821351 35821351 single base substitution C T intron_variant MELA-AU 13 35821359 35821359 single base substitution G A intron_variant MELA-AU 13 35821485 35821485 single base substitution C T intron_variant MELA-AU 13 35821595 35821595 single base substitution C T intron_variant MELA-AU 13 35821606 35821606 single base substitution C T intron_variant MELA-AU 13 35821694 35821694 single base substitution C T intron_variant MELA-AU 13 35821725 35821725 single base substitution G A intron_variant MELA-AU 13 35821736 35821736 single base substitution C T intron_variant MELA-AU 13 35821813 35821813 single base substitution G T intron_variant MELA-AU 13 35821947 35821947 single base substitution C T intron_variant MELA-AU 13 35822017 35822017 single base substitution G A intron_variant MELA-AU 13 35822051 35822051 single base substitution G A intron_variant MELA-AU 13 35822548 35822548 single base substitution C T intron_variant MELA-AU 13 35822699 35822699 single base substitution G A intron_variant MELA-AU 13 35822709 35822709 single base substitution C T intron_variant MELA-AU 13 35822790 35822790 single base substitution G A intron_variant MELA-AU 13 35822790 35822790 single base substitution G T intron_variant MELA-AU 13 35823034 35823034 single base substitution C T intron_variant MELA-AU 13 35823350 35823350 single base substitution G A intron_variant MELA-AU 13 35823380 35823380 single base substitution A G intron_variant MELA-AU 13 35823664 35823664 single base substitution G A intron_variant MELA-AU 13 35823788 35823788 single base substitution G A intron_variant MELA-AU 13 35823974 35823974 single base substitution C T intron_variant MELA-AU 13 35824224 35824224 single base substitution G A intron_variant MELA-AU 13 35824665 35824665 single base substitution C T intron_variant MELA-AU 13 35824804 35824804 single base substitution C T intron_variant MELA-AU 13 35825220 35825220 single base substitution C T intron_variant MELA-AU 13 35825241 35825241 single base substitution C T intron_variant MELA-AU 13 35825385 35825385 single base substitution A G intron_variant MELA-AU 13 35825421 35825421 single base substitution C T intron_variant MELA-AU 13 35825658 35825658 single base substitution G A intron_variant MELA-AU 13 35825751 35825751 single base substitution G A intron_variant MELA-AU 13 35825865 35825865 single base substitution G A intron_variant MELA-AU 13 35825868 35825868 single base substitution G A intron_variant MELA-AU 13 35825947 35825947 single base substitution G A intron_variant MELA-AU 13 35825994 35825994 single base substitution C T intron_variant MELA-AU 13 35826039 35826039 single base substitution C A intron_variant MELA-AU 13 35826112 35826112 single base substitution C T intron_variant MELA-AU 13 35826396 35826396 single base substitution A G intron_variant MELA-AU 13 35826435 35826435 single base substitution G A intron_variant MELA-AU 13 35826453 35826453 single base substitution C T intron_variant MELA-AU 13 35826461 35826461 single base substitution C T intron_variant MELA-AU 13 35826610 35826610 single base substitution A G intron_variant MELA-AU 13 35826681 35826681 single base substitution C T intron_variant MELA-AU 13 35826974 35826974 single base substitution G A intron_variant MELA-AU 13 35827299 35827299 single base substitution C T intron_variant MELA-AU 13 35827310 35827310 single base substitution C T intron_variant MELA-AU 13 35827630 35827630 single base substitution C T intron_variant MELA-AU 13 35827653 35827653 single base substitution G A intron_variant MELA-AU 13 35827816 35827816 single base substitution C T intron_variant MELA-AU 13 35827889 35827889 single base substitution C T intron_variant MELA-AU 13 35828186 35828186 single base substitution T A intron_variant MELA-AU 13 35828222 35828222 single base substitution C T intron_variant MELA-AU 13 35828253 35828253 single base substitution G A intron_variant MELA-AU 13 35828472 35828472 single base substitution T A intron_variant MELA-AU 13 35828630 35828630 single base substitution A G intron_variant MELA-AU 13 35828747 35828747 single base substitution C T intron_variant MELA-AU 13 35828824 35828824 single base substitution T A intron_variant MELA-AU 13 35829033 35829034 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 13 35829388 35829388 single base substitution C T intron_variant MELA-AU 13 35829476 35829476 single base substitution C T intron_variant MELA-AU 13 35829831 35829831 single base substitution G A intron_variant MELA-AU 13 35829849 35829849 single base substitution C T intron_variant MELA-AU 13 35829960 35829961 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35830099 35830099 single base substitution C T intron_variant MELA-AU 13 35830103 35830103 single base substitution C T intron_variant MELA-AU 13 35830215 35830215 single base substitution G A intron_variant MELA-AU 13 35830474 35830474 single base substitution G A intron_variant MELA-AU 13 35830552 35830552 single base substitution A G intron_variant MELA-AU 13 35830557 35830557 single base substitution C T intron_variant MELA-AU 13 35830715 35830715 single base substitution C A intron_variant MELA-AU 13 35831105 35831105 single base substitution G A intron_variant MELA-AU 13 35831115 35831115 single base substitution C T intron_variant MELA-AU 13 35831458 35831458 single base substitution C T intron_variant MELA-AU 13 35831667 35831667 single base substitution C T intron_variant MELA-AU 13 35832101 35832101 single base substitution G A intron_variant MELA-AU 13 35832182 35832182 single base substitution C T intron_variant MELA-AU 13 35832215 35832215 single base substitution C T intron_variant MELA-AU 13 35832252 35832252 single base substitution G A intron_variant MELA-AU 13 35832528 35832528 single base substitution C T intron_variant MELA-AU 13 35832907 35832907 single base substitution G A intron_variant MELA-AU 13 35833264 35833264 single base substitution G A intron_variant MELA-AU 13 35833393 35833393 single base substitution C T intron_variant MELA-AU 13 35834835 35834835 single base substitution G A intron_variant MELA-AU 13 35835777 35835777 single base substitution G A intron_variant MELA-AU 13 35836223 35836223 single base substitution G A intron_variant MELA-AU 13 35836393 35836393 single base substitution G A intron_variant MELA-AU 13 35836472 35836473 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35837012 35837012 single base substitution G A intron_variant MELA-AU 13 35837126 35837126 single base substitution A T intron_variant MELA-AU 13 35837137 35837137 single base substitution A G intron_variant MELA-AU 13 35837167 35837167 single base substitution G A intron_variant MELA-AU 13 35837290 35837290 single base substitution C T intron_variant MELA-AU 13 35837631 35837631 single base substitution C T intron_variant MELA-AU 13 35837646 35837646 single base substitution C T intron_variant MELA-AU 13 35837690 35837690 single base substitution G A intron_variant MELA-AU 13 35838004 35838004 single base substitution G A intron_variant MELA-AU 13 35838047 35838047 single base substitution G A intron_variant MELA-AU 13 35838830 35838830 single base substitution C T intron_variant MELA-AU 13 35839040 35839040 single base substitution G A intron_variant MELA-AU 13 35839503 35839503 single base substitution C T intron_variant MELA-AU 13 35839791 35839791 single base substitution C T intron_variant MELA-AU 13 35840240 35840240 single base substitution A G intron_variant MELA-AU 13 35840279 35840279 single base substitution A G intron_variant MELA-AU 13 35840384 35840384 single base substitution A T intron_variant MELA-AU 13 35840482 35840482 single base substitution C T intron_variant MELA-AU 13 35840662 35840662 single base substitution C T intron_variant MELA-AU 13 35840688 35840688 single base substitution G A intron_variant MELA-AU 13 35840744 35840744 single base substitution C T intron_variant MELA-AU 13 35840868 35840868 single base substitution C T intron_variant MELA-AU 13 35841158 35841158 single base substitution G A intron_variant MELA-AU 13 35841259 35841259 single base substitution G A intron_variant MELA-AU 13 35841298 35841298 single base substitution C T intron_variant MELA-AU 13 35841420 35841420 single base substitution T A intron_variant MELA-AU 13 35841494 35841494 single base substitution G A intron_variant MELA-AU 13 35841750 35841750 single base substitution G A intron_variant MELA-AU 13 35842157 35842157 single base substitution A T intron_variant MELA-AU 13 35842357 35842357 single base substitution G A intron_variant MELA-AU 13 35842449 35842449 single base substitution G A intron_variant MELA-AU 13 35843022 35843022 single base substitution G A intron_variant MELA-AU 13 35843214 35843214 single base substitution G A intron_variant MELA-AU 13 35843235 35843235 single base substitution G A intron_variant MELA-AU 13 35843868 35843868 single base substitution C A intron_variant MELA-AU 13 35844428 35844428 single base substitution C T intron_variant MELA-AU 13 35844467 35844467 single base substitution G A intron_variant MELA-AU 13 35844664 35844664 single base substitution C T intron_variant MELA-AU 13 35844700 35844700 single base substitution C T intron_variant MELA-AU 13 35844850 35844850 single base substitution C T intron_variant MELA-AU 13 35845260 35845260 single base substitution G A intron_variant MELA-AU 13 35845416 35845416 single base substitution G A intron_variant MELA-AU 13 35845484 35845484 single base substitution C T intron_variant MELA-AU 13 35845535 35845535 single base substitution G A intron_variant MELA-AU 13 35845542 35845542 single base substitution C T intron_variant MELA-AU 13 35845634 35845635 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35845833 35845833 single base substitution C T intron_variant MELA-AU 13 35845925 35845925 single base substitution T C intron_variant MELA-AU 13 35846070 35846070 single base substitution C T intron_variant MELA-AU 13 35846073 35846073 single base substitution G A intron_variant MELA-AU 13 35846208 35846208 single base substitution G A intron_variant MELA-AU 13 35846216 35846216 single base substitution G A intron_variant MELA-AU 13 35846800 35846800 single base substitution C T intron_variant MELA-AU 13 35846815 35846815 single base substitution A T intron_variant MELA-AU 13 35846987 35846987 single base substitution A G intron_variant MELA-AU 13 35847404 35847404 single base substitution G A intron_variant MELA-AU 13 35847502 35847502 single base substitution G A intron_variant MELA-AU 13 35847802 35847802 single base substitution A C intron_variant MELA-AU 13 35847908 35847908 single base substitution G A intron_variant MELA-AU 13 35848065 35848065 single base substitution C T intron_variant MELA-AU 13 35848095 35848095 single base substitution C T intron_variant MELA-AU 13 35848604 35848604 single base substitution C T intron_variant MELA-AU 13 35848882 35848882 single base substitution C A intron_variant MELA-AU 13 35849059 35849059 single base substitution C T intron_variant MELA-AU 13 35849119 35849119 single base substitution C T intron_variant MELA-AU 13 35849159 35849159 single base substitution G A intron_variant MELA-AU 13 35849276 35849276 single base substitution G A intron_variant MELA-AU 13 35849401 35849401 single base substitution C T intron_variant MELA-AU 13 35849536 35849536 single base substitution C T intron_variant MELA-AU 13 35850003 35850003 single base substitution G A intron_variant MELA-AU 13 35850117 35850118 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 13 35850250 35850250 single base substitution C T intron_variant MELA-AU 13 35850878 35850878 single base substitution A G intron_variant MELA-AU 13 35851240 35851240 single base substitution G A intron_variant MELA-AU 13 35851578 35851578 single base substitution G A intron_variant MELA-AU 13 35851709 35851709 single base substitution G A intron_variant MELA-AU 13 35851813 35851813 single base substitution G A intron_variant MELA-AU 13 35851865 35851865 single base substitution G A intron_variant MELA-AU 13 35852174 35852174 single base substitution A C intron_variant MELA-AU 13 35852178 35852178 single base substitution C T intron_variant MELA-AU 13 35852464 35852464 single base substitution C T intron_variant MELA-AU 13 35852949 35852949 single base substitution C T intron_variant MELA-AU 13 35853388 35853388 single base substitution G A intron_variant MELA-AU 13 35853449 35853449 single base substitution G A intron_variant MELA-AU 13 35853617 35853617 single base substitution T C intron_variant MELA-AU 13 35853741 35853741 single base substitution G A intron_variant MELA-AU 13 35853829 35853829 single base substitution G A intron_variant MELA-AU 13 35853830 35853830 single base substitution G A intron_variant MELA-AU 13 35854606 35854606 single base substitution C T intron_variant MELA-AU 13 35854796 35854796 single base substitution G A intron_variant MELA-AU 13 35854824 35854824 single base substitution G A intron_variant MELA-AU 13 35855384 35855384 single base substitution G A intron_variant MELA-AU 13 35855399 35855399 single base substitution T G intron_variant MELA-AU 13 35855526 35855526 single base substitution A G intron_variant MELA-AU 13 35855605 35855605 single base substitution T C intron_variant MELA-AU 13 35855625 35855625 single base substitution C T intron_variant MELA-AU 13 35856343 35856343 single base substitution C T intron_variant MELA-AU 13 35856931 35856931 single base substitution C T intron_variant MELA-AU 13 35857435 35857435 single base substitution A G intron_variant MELA-AU 13 35857559 35857559 single base substitution T G intron_variant MELA-AU 13 35857590 35857590 single base substitution C T intron_variant MELA-AU 13 35857657 35857657 single base substitution T A intron_variant MELA-AU 13 35857849 35857849 single base substitution G A intron_variant MELA-AU 13 35857850 35857850 single base substitution G A intron_variant MELA-AU 13 35857904 35857904 single base substitution G A intron_variant MELA-AU 13 35858446 35858446 single base substitution C G intron_variant MELA-AU 13 35858787 35858787 single base substitution T C intron_variant MELA-AU 13 35858961 35858961 single base substitution C T intron_variant MELA-AU 13 35859377 35859377 single base substitution G A intron_variant MELA-AU 13 35859794 35859794 single base substitution C T intron_variant MELA-AU 13 35860021 35860021 single base substitution C T intron_variant MELA-AU 13 35860398 35860398 single base substitution G A intron_variant MELA-AU 13 35860671 35860671 single base substitution C T intron_variant MELA-AU 13 35860869 35860869 single base substitution G A intron_variant MELA-AU 13 35860959 35860959 single base substitution T C intron_variant MELA-AU 13 35861159 35861159 single base substitution C T intron_variant MELA-AU 13 35861205 35861205 single base substitution T C intron_variant MELA-AU 13 35861242 35861242 single base substitution C T intron_variant MELA-AU 13 35861456 35861456 single base substitution G A intron_variant MELA-AU 13 35861597 35861597 single base substitution T C intron_variant MELA-AU 13 35861666 35861666 single base substitution C T intron_variant MELA-AU 13 35861702 35861702 single base substitution C T intron_variant MELA-AU 13 35861789 35861789 single base substitution G A intron_variant MELA-AU 13 35862235 35862235 single base substitution G A intron_variant MELA-AU 13 35862358 35862358 single base substitution C T intron_variant MELA-AU 13 35862602 35862602 single base substitution T A intron_variant MELA-AU 13 35862683 35862683 single base substitution T A intron_variant MELA-AU 13 35862700 35862700 single base substitution T C intron_variant MELA-AU 13 35862768 35862768 single base substitution T C intron_variant MELA-AU 13 35862867 35862867 single base substitution C G intron_variant MELA-AU 13 35863556 35863556 single base substitution C T intron_variant MELA-AU 13 35864271 35864271 single base substitution C T intron_variant MELA-AU 13 35864314 35864314 single base substitution C T intron_variant MELA-AU 13 35864960 35864960 deletion of <=200bp A - intron_variant MELA-AU 13 35865089 35865089 single base substitution A G intron_variant MELA-AU 13 35865096 35865096 single base substitution T G intron_variant MELA-AU 13 35865320 35865320 single base substitution G A intron_variant MELA-AU 13 35865465 35865467 deletion of <=200bp AAT - intron_variant MELA-AU 13 35865584 35865584 single base substitution C T intron_variant MELA-AU 13 35865683 35865683 single base substitution G A intron_variant MELA-AU 13 35865769 35865776 deletion of <=200bp ATGCGTTT - intron_variant MELA-AU 13 35866233 35866233 single base substitution C T intron_variant MELA-AU 13 35866369 35866369 single base substitution C T intron_variant MELA-AU 13 35866875 35866875 single base substitution C T intron_variant MELA-AU 13 35867065 35867065 single base substitution G A intron_variant MELA-AU 13 35867097 35867097 single base substitution G A intron_variant MELA-AU 13 35867187 35867187 single base substitution A G intron_variant MELA-AU 13 35868305 35868305 single base substitution G A intron_variant MELA-AU 13 35868435 35868435 single base substitution T C intron_variant MELA-AU 13 35868615 35868615 single base substitution G A intron_variant MELA-AU 13 35868645 35868645 single base substitution C T intron_variant MELA-AU 13 35868673 35868673 single base substitution C T intron_variant MELA-AU 13 35868985 35868985 single base substitution G A intron_variant MELA-AU 13 35869146 35869146 single base substitution G A intron_variant MELA-AU 13 35869315 35869315 single base substitution G A intron_variant MELA-AU 13 35869837 35869837 single base substitution G A intron_variant MELA-AU 13 35870226 35870226 single base substitution C T intron_variant MELA-AU 13 35870254 35870254 single base substitution C T intron_variant MELA-AU 13 35870343 35870343 single base substitution A G intron_variant MELA-AU 13 35870471 35870471 single base substitution T C intron_variant MELA-AU 13 35871043 35871043 single base substitution C T intron_variant MELA-AU 13 35871124 35871124 single base substitution C T intron_variant MELA-AU 13 35871150 35871150 single base substitution C T intron_variant MELA-AU 13 35871462 35871462 single base substitution G A intron_variant MELA-AU 13 35871742 35871742 single base substitution C T intron_variant MELA-AU 13 35871929 35871929 single base substitution G A intron_variant MELA-AU 13 35872022 35872022 single base substitution A G intron_variant MELA-AU 13 35872376 35872376 single base substitution A G intron_variant MELA-AU 13 35872553 35872553 single base substitution C T intron_variant MELA-AU 13 35872928 35872928 single base substitution C T intron_variant MELA-AU 13 35872974 35872974 single base substitution G A intron_variant MELA-AU 13 35873170 35873170 single base substitution T A intron_variant MELA-AU 13 35873173 35873173 single base substitution C T intron_variant MELA-AU 13 35873517 35873517 single base substitution G A intron_variant MELA-AU 13 35873616 35873617 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35873675 35873675 single base substitution C T intron_variant MELA-AU 13 35873936 35873936 single base substitution C T intron_variant MELA-AU 13 35874047 35874047 single base substitution T C intron_variant MELA-AU 13 35874126 35874126 single base substitution T A intron_variant MELA-AU 13 35874308 35874308 single base substitution G A intron_variant MELA-AU 13 35874371 35874371 single base substitution G A intron_variant MELA-AU 13 35874385 35874385 single base substitution C T intron_variant MELA-AU 13 35874437 35874438 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35874488 35874488 single base substitution G A intron_variant MELA-AU 13 35874628 35874628 single base substitution C T intron_variant MELA-AU 13 35874968 35874968 single base substitution G A intron_variant MELA-AU 13 35875098 35875098 single base substitution A G intron_variant MELA-AU 13 35875412 35875412 single base substitution A G intron_variant MELA-AU 13 35875533 35875533 single base substitution T C intron_variant MELA-AU 13 35875660 35875660 single base substitution C T intron_variant MELA-AU 13 35875711 35875711 single base substitution T C intron_variant MELA-AU 13 35875847 35875847 single base substitution G A intron_variant MELA-AU 13 35875884 35875884 single base substitution C T intron_variant MELA-AU 13 35875922 35875922 single base substitution A G intron_variant MELA-AU 13 35876131 35876131 single base substitution G A intron_variant MELA-AU 13 35876263 35876264 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35876354 35876354 single base substitution C T intron_variant MELA-AU 13 35876392 35876392 single base substitution C T intron_variant MELA-AU 13 35876832 35876832 single base substitution G A intron_variant MELA-AU 13 35876934 35876934 single base substitution A G intron_variant MELA-AU 13 35876936 35876936 single base substitution T A intron_variant MELA-AU 13 35877184 35877184 single base substitution G A intron_variant MELA-AU 13 35877202 35877202 single base substitution G A intron_variant MELA-AU 13 35877232 35877232 single base substitution C T intron_variant MELA-AU 13 35877974 35877974 single base substitution G A intron_variant MELA-AU 13 35878115 35878115 single base substitution G A intron_variant MELA-AU 13 35878555 35878555 single base substitution G A intron_variant MELA-AU 13 35878615 35878615 single base substitution C T intron_variant MELA-AU 13 35878688 35878688 single base substitution G A intron_variant MELA-AU 13 35878765 35878765 single base substitution A G intron_variant MELA-AU 13 35878768 35878768 single base substitution C T intron_variant MELA-AU 13 35878956 35878956 single base substitution T C intron_variant MELA-AU 13 35878982 35878982 single base substitution G A intron_variant MELA-AU 13 35879419 35879419 single base substitution G A intron_variant MELA-AU 13 35879541 35879541 single base substitution C T intron_variant MELA-AU 13 35879576 35879576 single base substitution C T intron_variant MELA-AU 13 35879577 35879577 single base substitution C T intron_variant MELA-AU 13 35879675 35879675 single base substitution G A intron_variant MELA-AU 13 35879731 35879731 single base substitution C T intron_variant MELA-AU 13 35879887 35879887 single base substitution C T intron_variant MELA-AU 13 35880153 35880153 single base substitution C T intron_variant MELA-AU 13 35880335 35880335 single base substitution C T intron_variant MELA-AU 13 35880542 35880542 single base substitution C T intron_variant MELA-AU 13 35880715 35880715 single base substitution C T intron_variant MELA-AU 13 35880778 35880778 single base substitution T C intron_variant MELA-AU 13 35880917 35880917 single base substitution T C intron_variant MELA-AU 13 35881049 35881049 single base substitution G A intron_variant MELA-AU 13 35881291 35881291 single base substitution G A intron_variant MELA-AU 13 35881331 35881331 single base substitution C T intron_variant MELA-AU 13 35881410 35881410 single base substitution C T intron_variant MELA-AU 13 35881482 35881482 single base substitution G A intron_variant MELA-AU 13 35881721 35881721 single base substitution G A intron_variant MELA-AU 13 35882263 35882263 single base substitution C T intron_variant MELA-AU 13 35882287 35882287 single base substitution T C intron_variant MELA-AU 13 35882440 35882440 single base substitution G A intron_variant MELA-AU 13 35882643 35882643 single base substitution A G intron_variant MELA-AU 13 35882685 35882685 single base substitution A G intron_variant MELA-AU 13 35882687 35882687 single base substitution G A intron_variant MELA-AU 13 35882711 35882711 single base substitution A G intron_variant MELA-AU 13 35882804 35882804 single base substitution T G intron_variant MELA-AU 13 35882991 35882991 single base substitution C T intron_variant MELA-AU 13 35883292 35883292 single base substitution C T intron_variant MELA-AU 13 35883540 35883540 single base substitution T C intron_variant MELA-AU 13 35883683 35883683 single base substitution C T stop_gained Q1950* 5848C>T MELA-AU 13 35883683 35883683 single base substitution C T stop_gained Q1953* 5857C>T MELA-AU 13 35884051 35884051 single base substitution C T intron_variant MELA-AU 13 35884074 35884074 single base substitution C T intron_variant MELA-AU 13 35884099 35884099 single base substitution G A intron_variant MELA-AU 13 35884114 35884114 single base substitution G A intron_variant MELA-AU 13 35884189 35884189 single base substitution G A intron_variant MELA-AU 13 35884754 35884754 single base substitution G A intron_variant MELA-AU 13 35884874 35884874 single base substitution G A intron_variant MELA-AU 13 35885407 35885407 single base substitution A C intron_variant MELA-AU 13 35885495 35885495 single base substitution C T intron_variant MELA-AU 13 35885899 35885899 single base substitution G A intron_variant MELA-AU 13 35885970 35885970 single base substitution G A intron_variant MELA-AU 13 35885986 35885986 single base substitution C T intron_variant MELA-AU 13 35886377 35886377 single base substitution G T intron_variant MELA-AU 13 35886900 35886900 single base substitution G A intron_variant MELA-AU 13 35887172 35887172 single base substitution T C intron_variant MELA-AU 13 35887491 35887491 single base substitution C T intron_variant MELA-AU 13 35887621 35887621 single base substitution G A intron_variant MELA-AU 13 35887977 35887977 single base substitution G A intron_variant MELA-AU 13 35888006 35888006 single base substitution G A intron_variant MELA-AU 13 35888025 35888025 single base substitution G A intron_variant MELA-AU 13 35888118 35888118 single base substitution G A intron_variant MELA-AU 13 35888409 35888409 single base substitution A G intron_variant MELA-AU 13 35888418 35888418 single base substitution G A intron_variant MELA-AU 13 35888499 35888499 single base substitution T C intron_variant MELA-AU 13 35888877 35888877 single base substitution C T intron_variant MELA-AU 13 35888998 35888998 single base substitution C T intron_variant MELA-AU 13 35889325 35889325 single base substitution C T intron_variant MELA-AU 13 35889700 35889700 single base substitution C T intron_variant MELA-AU 13 35889858 35889858 single base substitution G A intron_variant MELA-AU 13 35890556 35890556 single base substitution C T intron_variant MELA-AU 13 35890603 35890603 single base substitution C T intron_variant MELA-AU 13 35890759 35890759 single base substitution C A intron_variant MELA-AU 13 35890994 35890994 single base substitution G A intron_variant MELA-AU 13 35891063 35891063 single base substitution C T intron_variant MELA-AU 13 35891241 35891241 single base substitution C T intron_variant MELA-AU 13 35891250 35891250 single base substitution C T intron_variant MELA-AU 13 35891276 35891276 single base substitution C T intron_variant MELA-AU 13 35891365 35891365 single base substitution G A intron_variant MELA-AU 13 35891505 35891505 single base substitution C T intron_variant MELA-AU 13 35891722 35891722 single base substitution C G intron_variant MELA-AU 13 35891940 35891940 single base substitution C T intron_variant MELA-AU 13 35892058 35892058 single base substitution G A intron_variant MELA-AU 13 35892174 35892174 single base substitution C T intron_variant MELA-AU 13 35892469 35892469 single base substitution G T intron_variant MELA-AU 13 35892655 35892655 single base substitution G A intron_variant MELA-AU 13 35892766 35892766 single base substitution G A intron_variant MELA-AU 13 35892792 35892792 single base substitution G A intron_variant MELA-AU 13 35892930 35892930 single base substitution C T intron_variant MELA-AU 13 35893195 35893195 single base substitution G A intron_variant MELA-AU 13 35893236 35893236 single base substitution C T intron_variant MELA-AU 13 35893325 35893325 single base substitution T C intron_variant MELA-AU 13 35893386 35893386 single base substitution C T intron_variant MELA-AU 13 35893709 35893709 single base substitution C T intron_variant MELA-AU 13 35893992 35893992 single base substitution T A intron_variant MELA-AU 13 35894042 35894042 single base substitution G A intron_variant MELA-AU 13 35894100 35894100 single base substitution C T intron_variant MELA-AU 13 35894170 35894170 single base substitution G A intron_variant MELA-AU 13 35894334 35894334 single base substitution C A intron_variant MELA-AU 13 35894629 35894629 single base substitution G A intron_variant MELA-AU 13 35894648 35894648 single base substitution C T intron_variant MELA-AU 13 35894696 35894696 single base substitution G A intron_variant MELA-AU 13 35894815 35894815 single base substitution C T intron_variant MELA-AU 13 35894842 35894842 single base substitution C T intron_variant MELA-AU 13 35895001 35895001 single base substitution C T intron_variant MELA-AU 13 35895128 35895128 single base substitution C T intron_variant MELA-AU 13 35895166 35895166 single base substitution G A intron_variant MELA-AU 13 35895192 35895192 single base substitution A G intron_variant MELA-AU 13 35895263 35895263 single base substitution C T intron_variant MELA-AU 13 35895264 35895264 single base substitution G T intron_variant MELA-AU 13 35895268 35895268 single base substitution C T intron_variant MELA-AU 13 35895448 35895448 single base substitution C T intron_variant MELA-AU 13 35895566 35895566 single base substitution G A intron_variant MELA-AU 13 35895611 35895611 single base substitution C T intron_variant MELA-AU 13 35895992 35895992 single base substitution C T intron_variant MELA-AU 13 35896039 35896039 single base substitution G A intron_variant MELA-AU 13 35896058 35896058 single base substitution C T intron_variant MELA-AU 13 35896199 35896199 single base substitution C T intron_variant MELA-AU 13 35896313 35896313 single base substitution C T intron_variant MELA-AU 13 35896390 35896390 single base substitution C T intron_variant MELA-AU 13 35896486 35896486 single base substitution A T intron_variant MELA-AU 13 35896584 35896584 single base substitution A G intron_variant MELA-AU 13 35896948 35896948 single base substitution G A intron_variant MELA-AU 13 35896959 35896959 single base substitution C T intron_variant MELA-AU 13 35897300 35897300 single base substitution T A intron_variant MELA-AU 13 35897532 35897532 single base substitution A G intron_variant MELA-AU 13 35897559 35897559 single base substitution G A intron_variant MELA-AU 13 35897671 35897671 single base substitution G A intron_variant MELA-AU 13 35897758 35897758 single base substitution G A intron_variant MELA-AU 13 35898155 35898155 single base substitution C T intron_variant MELA-AU 13 35898249 35898249 single base substitution C T intron_variant MELA-AU 13 35898269 35898269 single base substitution G A intron_variant MELA-AU 13 35898360 35898360 single base substitution G A intron_variant MELA-AU 13 35898454 35898454 single base substitution G A intron_variant MELA-AU 13 35898605 35898605 single base substitution G A intron_variant MELA-AU 13 35898885 35898885 single base substitution C T intron_variant MELA-AU 13 35898895 35898895 single base substitution G A intron_variant MELA-AU 13 35899032 35899032 single base substitution C T intron_variant MELA-AU 13 35899133 35899133 single base substitution G A intron_variant MELA-AU 13 35899184 35899184 single base substitution G A intron_variant MELA-AU 13 35899230 35899230 single base substitution C T intron_variant MELA-AU 13 35899330 35899330 single base substitution C T intron_variant MELA-AU 13 35899532 35899532 single base substitution C T intron_variant MELA-AU 13 35899540 35899540 single base substitution G A intron_variant MELA-AU 13 35899549 35899549 single base substitution G A intron_variant MELA-AU 13 35899580 35899580 single base substitution A G intron_variant MELA-AU 13 35900003 35900003 single base substitution C T intron_variant MELA-AU 13 35900025 35900025 single base substitution C T intron_variant MELA-AU 13 35900381 35900381 single base substitution G A intron_variant MELA-AU 13 35900523 35900523 single base substitution G A intron_variant MELA-AU 13 35900546 35900546 single base substitution G A intron_variant MELA-AU 13 35900932 35900932 single base substitution G A intron_variant MELA-AU 13 35901058 35901058 single base substitution T C intron_variant MELA-AU 13 35901115 35901115 single base substitution G A intron_variant MELA-AU 13 35901283 35901283 single base substitution G A intron_variant MELA-AU 13 35901402 35901402 single base substitution C T intron_variant MELA-AU 13 35901404 35901404 single base substitution C T intron_variant MELA-AU 13 35901591 35901591 single base substitution G A intron_variant MELA-AU 13 35901620 35901620 single base substitution C T intron_variant MELA-AU 13 35901621 35901621 single base substitution G A intron_variant MELA-AU 13 35901642 35901642 single base substitution C T intron_variant MELA-AU 13 35901736 35901736 single base substitution G A intron_variant MELA-AU 13 35901909 35901909 single base substitution A G intron_variant MELA-AU 13 35901934 35901934 single base substitution G A intron_variant MELA-AU 13 35902009 35902009 single base substitution G A intron_variant MELA-AU 13 35902039 35902039 single base substitution C T intron_variant MELA-AU 13 35902054 35902054 single base substitution A G intron_variant MELA-AU 13 35902162 35902162 single base substitution C T intron_variant MELA-AU 13 35902650 35902650 single base substitution G A intron_variant MELA-AU 13 35902729 35902729 single base substitution C T intron_variant MELA-AU 13 35902836 35902836 single base substitution G A intron_variant MELA-AU 13 35902839 35902840 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35903003 35903003 single base substitution G A intron_variant MELA-AU 13 35903007 35903007 single base substitution A G intron_variant MELA-AU 13 35903415 35903415 single base substitution C T intron_variant MELA-AU 13 35903628 35903628 single base substitution G A intron_variant MELA-AU 13 35904501 35904501 single base substitution G A intron_variant MELA-AU 13 35904528 35904528 single base substitution G A intron_variant MELA-AU 13 35904576 35904576 single base substitution C T intron_variant MELA-AU 13 35904629 35904629 single base substitution C T intron_variant MELA-AU 13 35905106 35905106 single base substitution G A intron_variant MELA-AU 13 35905176 35905176 single base substitution A T intron_variant MELA-AU 13 35906032 35906032 single base substitution G A intron_variant MELA-AU 13 35906212 35906212 single base substitution C T intron_variant MELA-AU 13 35906660 35906660 single base substitution G A intron_variant MELA-AU 13 35906673 35906673 single base substitution G A intron_variant MELA-AU 13 35907073 35907073 single base substitution G A intron_variant MELA-AU 13 35907113 35907113 single base substitution G A intron_variant MELA-AU 13 35907630 35907630 single base substitution G A intron_variant MELA-AU 13 35907741 35907741 single base substitution C T intron_variant MELA-AU 13 35907928 35907928 single base substitution C T intron_variant MELA-AU 13 35908097 35908097 single base substitution G A intron_variant MELA-AU 13 35908145 35908145 single base substitution G A intron_variant MELA-AU 13 35908206 35908206 single base substitution G A intron_variant MELA-AU 13 35908449 35908449 single base substitution C T intron_variant MELA-AU 13 35908516 35908516 single base substitution C T intron_variant MELA-AU 13 35908549 35908549 single base substitution G A intron_variant MELA-AU 13 35908598 35908598 single base substitution G A intron_variant MELA-AU 13 35908627 35908627 single base substitution G A intron_variant MELA-AU 13 35908728 35908728 single base substitution T A intron_variant MELA-AU 13 35908966 35908966 single base substitution C T intron_variant MELA-AU 13 35908967 35908967 single base substitution C T intron_variant MELA-AU 13 35909002 35909002 single base substitution C T intron_variant MELA-AU 13 35909059 35909059 single base substitution C T intron_variant MELA-AU 13 35909131 35909131 single base substitution G A intron_variant MELA-AU 13 35909315 35909315 single base substitution C T intron_variant MELA-AU 13 35909417 35909417 single base substitution C T intron_variant MELA-AU 13 35909683 35909683 single base substitution C T intron_variant MELA-AU 13 35909783 35909783 single base substitution C T intron_variant MELA-AU 13 35909925 35909925 single base substitution G A intron_variant MELA-AU 13 35910090 35910090 single base substitution G A intron_variant MELA-AU 13 35910166 35910166 single base substitution G A intron_variant MELA-AU 13 35910340 35910340 single base substitution C T intron_variant MELA-AU 13 35910674 35910674 single base substitution G A intron_variant MELA-AU 13 35910866 35910866 single base substitution G A intron_variant MELA-AU 13 35910901 35910901 single base substitution G A intron_variant MELA-AU 13 35910950 35910950 single base substitution A G intron_variant MELA-AU 13 35911025 35911025 single base substitution G A intron_variant MELA-AU 13 35911296 35911296 single base substitution G A intron_variant MELA-AU 13 35911336 35911336 single base substitution T A intron_variant MELA-AU 13 35911439 35911439 single base substitution A C intron_variant MELA-AU 13 35911473 35911473 single base substitution A C intron_variant MELA-AU 13 35911531 35911531 single base substitution C T intron_variant MELA-AU 13 35911582 35911582 single base substitution A C intron_variant MELA-AU 13 35911625 35911625 single base substitution C T intron_variant MELA-AU 13 35911772 35911772 single base substitution C T intron_variant MELA-AU 13 35911983 35911983 single base substitution G A intron_variant MELA-AU 13 35912112 35912112 single base substitution G A intron_variant MELA-AU 13 35912148 35912148 single base substitution G A intron_variant MELA-AU 13 35912240 35912240 single base substitution G A intron_variant MELA-AU 13 35912316 35912316 single base substitution C T intron_variant MELA-AU 13 35912584 35912584 single base substitution G A intron_variant MELA-AU 13 35912647 35912647 single base substitution C T intron_variant MELA-AU 13 35912709 35912709 single base substitution C T intron_variant MELA-AU 13 35912770 35912770 single base substitution G A intron_variant MELA-AU 13 35912845 35912845 single base substitution A T intron_variant MELA-AU 13 35912958 35912958 single base substitution G A intron_variant MELA-AU 13 35913062 35913062 single base substitution C T intron_variant MELA-AU 13 35913226 35913226 single base substitution A C intron_variant MELA-AU 13 35913328 35913328 single base substitution G A intron_variant MELA-AU 13 35913777 35913777 single base substitution C A intron_variant MELA-AU 13 35914233 35914233 single base substitution T G intron_variant MELA-AU 13 35914518 35914518 single base substitution C T intron_variant MELA-AU 13 35914877 35914877 single base substitution G A intron_variant MELA-AU 13 35915048 35915048 single base substitution G A intron_variant MELA-AU 13 35915349 35915349 single base substitution G A intron_variant MELA-AU 13 35915369 35915369 single base substitution C A intron_variant MELA-AU 13 35915487 35915487 single base substitution C T intron_variant MELA-AU 13 35915766 35915766 single base substitution G A intron_variant MELA-AU 13 35915827 35915827 single base substitution C T intron_variant MELA-AU 13 35915915 35915915 single base substitution G A intron_variant MELA-AU 13 35915941 35915941 single base substitution G A intron_variant MELA-AU 13 35916002 35916002 single base substitution C T intron_variant MELA-AU 13 35916025 35916025 single base substitution G A intron_variant MELA-AU 13 35916255 35916255 single base substitution G A intron_variant MELA-AU 13 35916372 35916372 single base substitution G A intron_variant MELA-AU 13 35916395 35916395 single base substitution G A intron_variant MELA-AU 13 35916477 35916477 single base substitution G A intron_variant MELA-AU 13 35916959 35916959 single base substitution C T intron_variant MELA-AU 13 35917307 35917307 single base substitution G T intron_variant MELA-AU 13 35917365 35917365 single base substitution A T intron_variant MELA-AU 13 35917409 35917409 single base substitution G A intron_variant MELA-AU 13 35917425 35917425 single base substitution C T intron_variant MELA-AU 13 35917494 35917494 single base substitution C T intron_variant MELA-AU 13 35917985 35917985 single base substitution G C intron_variant MELA-AU 13 35918138 35918138 single base substitution C T intron_variant MELA-AU 13 35918217 35918217 single base substitution C T intron_variant MELA-AU 13 35918418 35918418 single base substitution T A intron_variant MELA-AU 13 35918570 35918570 single base substitution A T intron_variant MELA-AU 13 35918839 35918839 single base substitution A C intron_variant MELA-AU 13 35919065 35919065 single base substitution A G intron_variant MELA-AU 13 35919104 35919104 single base substitution C T intron_variant MELA-AU 13 35919446 35919446 single base substitution C A intron_variant MELA-AU 13 35919624 35919624 single base substitution C T intron_variant MELA-AU 13 35919719 35919719 single base substitution T C intron_variant MELA-AU 13 35920470 35920470 single base substitution G A intron_variant MELA-AU 13 35920800 35920800 single base substitution G A intron_variant MELA-AU 13 35920805 35920805 single base substitution G A intron_variant MELA-AU 13 35921585 35921585 single base substitution G A intron_variant MELA-AU 13 35921626 35921626 single base substitution C T intron_variant MELA-AU 13 35921738 35921738 single base substitution C T intron_variant MELA-AU 13 35921772 35921772 single base substitution G A intron_variant MELA-AU 13 35922279 35922279 single base substitution G A intron_variant MELA-AU 13 35922572 35922572 single base substitution G A intron_variant MELA-AU 13 35923160 35923160 single base substitution G A intron_variant MELA-AU 13 35923913 35923913 single base substitution T C intron_variant MELA-AU 13 35925094 35925094 single base substitution G A intron_variant MELA-AU 13 35925511 35925511 single base substitution T A intron_variant MELA-AU 13 35925691 35925691 single base substitution C T intron_variant MELA-AU 13 35926348 35926348 single base substitution C T missense_variant H2020Y 6058C>T MELA-AU 13 35926348 35926348 single base substitution C T missense_variant H2023Y 6067C>T MELA-AU 13 35926372 35926372 single base substitution C T stop_gained R2028* 6082C>T MELA-AU 13 35926372 35926372 single base substitution C T stop_gained R2031* 6091C>T MELA-AU 13 35927091 35927091 single base substitution T A intron_variant MELA-AU 13 35927145 35927145 single base substitution C T intron_variant MELA-AU 13 35927187 35927187 single base substitution T A intron_variant MELA-AU 13 35927321 35927321 single base substitution C T intron_variant MELA-AU 13 35927820 35927820 single base substitution G A intron_variant MELA-AU 13 35928016 35928016 single base substitution G A intron_variant MELA-AU 13 35928053 35928053 single base substitution G A intron_variant MELA-AU 13 35928656 35928656 single base substitution T G intron_variant MELA-AU 13 35928744 35928744 single base substitution A T intron_variant MELA-AU 13 35928768 35928768 single base substitution C T intron_variant MELA-AU 13 35928873 35928873 single base substitution C T intron_variant MELA-AU 13 35929118 35929118 single base substitution T A intron_variant MELA-AU 13 35929163 35929163 single base substitution C T intron_variant MELA-AU 13 35929272 35929272 single base substitution C T intron_variant MELA-AU 13 35929716 35929716 single base substitution T C intron_variant MELA-AU 13 35929803 35929803 single base substitution C T intron_variant MELA-AU 13 35929805 35929805 single base substitution C T intron_variant MELA-AU 13 35930084 35930084 single base substitution T A intron_variant MELA-AU 13 35930234 35930234 single base substitution G A intron_variant MELA-AU 13 35930620 35930620 single base substitution A G intron_variant MELA-AU 13 35931137 35931137 single base substitution T C intron_variant MELA-AU 13 35931534 35931534 single base substitution G A intron_variant MELA-AU 13 35931566 35931566 single base substitution C T intron_variant MELA-AU 13 35931569 35931569 single base substitution G A intron_variant MELA-AU 13 35931626 35931626 single base substitution C T intron_variant MELA-AU 13 35931719 35931719 single base substitution G A intron_variant MELA-AU 13 35931757 35931757 single base substitution G A intron_variant MELA-AU 13 35931912 35931912 single base substitution G A intron_variant MELA-AU 13 35931925 35931925 single base substitution A T intron_variant MELA-AU 13 35932044 35932044 single base substitution C T intron_variant MELA-AU 13 35932212 35932212 single base substitution T C intron_variant MELA-AU 13 35932337 35932337 single base substitution T A intron_variant MELA-AU 13 35932381 35932381 single base substitution G A intron_variant MELA-AU 13 35932399 35932399 single base substitution G A intron_variant MELA-AU 13 35932438 35932438 single base substitution G A intron_variant MELA-AU 13 35932601 35932601 single base substitution C T intron_variant MELA-AU 13 35932730 35932730 single base substitution C T intron_variant MELA-AU 13 35933063 35933063 single base substitution G A intron_variant MELA-AU 13 35933333 35933333 single base substitution G A intron_variant MELA-AU 13 35933362 35933362 single base substitution T C intron_variant MELA-AU 13 35933438 35933438 single base substitution C T intron_variant MELA-AU 13 35933652 35933652 single base substitution A C intron_variant MELA-AU 13 35933695 35933695 single base substitution G A intron_variant MELA-AU 13 35933789 35933789 single base substitution C T intron_variant MELA-AU 13 35933969 35933969 single base substitution A G intron_variant MELA-AU 13 35934144 35934144 single base substitution G A intron_variant MELA-AU 13 35934496 35934496 single base substitution C T intron_variant MELA-AU 13 35934628 35934628 single base substitution G A intron_variant MELA-AU 13 35934636 35934636 single base substitution C T intron_variant MELA-AU 13 35934820 35934820 single base substitution G A intron_variant MELA-AU 13 35934887 35934887 single base substitution G A intron_variant MELA-AU 13 35935177 35935177 single base substitution A C intron_variant MELA-AU 13 35935218 35935218 single base substitution C T intron_variant MELA-AU 13 35935252 35935252 single base substitution G A intron_variant MELA-AU 13 35935285 35935285 single base substitution A T intron_variant MELA-AU 13 35935376 35935376 single base substitution G A intron_variant MELA-AU 13 35935470 35935470 single base substitution C T intron_variant MELA-AU 13 35935546 35935546 single base substitution C T intron_variant MELA-AU 13 35935900 35935900 single base substitution G A intron_variant MELA-AU 13 35935918 35935918 single base substitution C T intron_variant MELA-AU 13 35936223 35936223 single base substitution G A intron_variant MELA-AU 13 35936469 35936469 single base substitution G A intron_variant MELA-AU 13 35936472 35936472 single base substitution T A intron_variant MELA-AU 13 35936729 35936729 single base substitution C T intron_variant MELA-AU 13 35937153 35937153 single base substitution C T intron_variant MELA-AU 13 35937276 35937276 single base substitution C T intron_variant MELA-AU 13 35937405 35937405 single base substitution G A intron_variant MELA-AU 13 35937618 35937618 single base substitution G A intron_variant MELA-AU 13 35937827 35937827 single base substitution C T intron_variant MELA-AU 13 35937903 35937903 single base substitution C A intron_variant MELA-AU 13 35938128 35938128 single base substitution G A intron_variant MELA-AU 13 35938296 35938296 single base substitution C T intron_variant MELA-AU 13 35938321 35938321 single base substitution G A intron_variant MELA-AU 13 35939002 35939002 single base substitution T G intron_variant MELA-AU 13 35939217 35939217 single base substitution G A intron_variant MELA-AU 13 35939249 35939249 single base substitution C T intron_variant MELA-AU 13 35939372 35939372 single base substitution G A intron_variant MELA-AU 13 35939590 35939590 single base substitution G A intron_variant MELA-AU 13 35939612 35939612 single base substitution A C intron_variant MELA-AU 13 35939679 35939679 single base substitution G A intron_variant MELA-AU 13 35939907 35939907 single base substitution G A intron_variant MELA-AU 13 35940452 35940452 single base substitution C A intron_variant MELA-AU 13 35940512 35940512 single base substitution C T intron_variant MELA-AU 13 35940593 35940593 single base substitution G A intron_variant MELA-AU 13 35940647 35940647 single base substitution G A intron_variant MELA-AU 13 35940722 35940722 single base substitution C T intron_variant MELA-AU 13 35940872 35940872 single base substitution G A intron_variant MELA-AU 13 35940888 35940888 single base substitution C T intron_variant MELA-AU 13 35940924 35940924 single base substitution G A intron_variant MELA-AU 13 35941253 35941253 single base substitution G A intron_variant MELA-AU 13 35941484 35941484 single base substitution C T intron_variant MELA-AU 13 35941828 35941828 single base substitution T C intron_variant MELA-AU 13 35942080 35942080 single base substitution T A intron_variant MELA-AU 13 35942219 35942219 single base substitution G A intron_variant MELA-AU 13 35942270 35942270 single base substitution A C intron_variant MELA-AU 13 35942312 35942312 single base substitution C T intron_variant MELA-AU 13 35942532 35942532 single base substitution T C intron_variant MELA-AU 13 35942659 35942659 single base substitution G A intron_variant MELA-AU 13 35942756 35942756 single base substitution C T intron_variant MELA-AU 13 35942969 35942969 single base substitution A T intron_variant MELA-AU 13 35943143 35943143 single base substitution G A intron_variant MELA-AU 13 35943345 35943345 single base substitution A G intron_variant MELA-AU 13 35943386 35943386 single base substitution C T intron_variant MELA-AU 13 35943437 35943437 single base substitution C T intron_variant MELA-AU 13 35943475 35943475 single base substitution C T intron_variant MELA-AU 13 35943487 35943487 single base substitution G A intron_variant MELA-AU 13 35943556 35943556 single base substitution G A intron_variant MELA-AU 13 35943671 35943671 single base substitution C T intron_variant MELA-AU 13 35943956 35943956 single base substitution C T intron_variant MELA-AU 13 35944115 35944115 single base substitution G A intron_variant MELA-AU 13 35944266 35944266 single base substitution G A intron_variant MELA-AU 13 35944463 35944463 single base substitution C T intron_variant MELA-AU 13 35944583 35944583 single base substitution C T intron_variant MELA-AU 13 35944613 35944613 single base substitution T C intron_variant MELA-AU 13 35944702 35944702 single base substitution C T intron_variant MELA-AU 13 35944741 35944741 single base substitution C T intron_variant MELA-AU 13 35944750 35944750 single base substitution C T intron_variant MELA-AU 13 35944884 35944884 single base substitution G A intron_variant MELA-AU 13 35944902 35944902 single base substitution C T intron_variant MELA-AU 13 35944956 35944956 single base substitution A T intron_variant MELA-AU 13 35945175 35945175 single base substitution G A intron_variant MELA-AU 13 35945401 35945401 single base substitution C T intron_variant MELA-AU 13 35945502 35945502 single base substitution G A intron_variant MELA-AU 13 35945541 35945541 single base substitution C T intron_variant MELA-AU 13 35945568 35945568 single base substitution C T intron_variant MELA-AU 13 35945718 35945718 single base substitution G A intron_variant MELA-AU 13 35945747 35945747 single base substitution C T intron_variant MELA-AU 13 35945837 35945837 single base substitution T A intron_variant MELA-AU 13 35945885 35945885 single base substitution G A intron_variant MELA-AU 13 35946006 35946006 single base substitution C T intron_variant MELA-AU 13 35946067 35946067 single base substitution G A intron_variant MELA-AU 13 35946117 35946117 single base substitution C T intron_variant MELA-AU 13 35946163 35946163 single base substitution G A intron_variant MELA-AU 13 35946190 35946190 single base substitution C T intron_variant MELA-AU 13 35946332 35946332 single base substitution G A intron_variant MELA-AU 13 35946446 35946446 single base substitution G A intron_variant MELA-AU 13 35946463 35946463 single base substitution G A intron_variant MELA-AU 13 35946738 35946739 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35946743 35946743 single base substitution G A intron_variant MELA-AU 13 35946756 35946756 single base substitution C T intron_variant MELA-AU 13 35946785 35946785 single base substitution G T intron_variant MELA-AU 13 35946818 35946818 single base substitution C T intron_variant MELA-AU 13 35947023 35947023 single base substitution G A intron_variant MELA-AU 13 35947024 35947024 single base substitution G A intron_variant MELA-AU 13 35947086 35947086 single base substitution C T intron_variant MELA-AU 13 35947118 35947118 single base substitution C T intron_variant MELA-AU 13 35947146 35947146 single base substitution T C intron_variant MELA-AU 13 35947186 35947186 single base substitution C T intron_variant MELA-AU 13 35947239 35947239 single base substitution C T intron_variant MELA-AU 13 35947244 35947244 single base substitution C T intron_variant MELA-AU 13 35947422 35947422 single base substitution G A intron_variant MELA-AU 13 35947446 35947446 single base substitution C T intron_variant MELA-AU 13 35947553 35947553 single base substitution G A intron_variant MELA-AU 13 35947571 35947571 single base substitution G A intron_variant MELA-AU 13 35947603 35947603 single base substitution G A intron_variant MELA-AU 13 35947630 35947630 single base substitution C T intron_variant MELA-AU 13 35947701 35947701 single base substitution G A intron_variant MELA-AU 13 35947753 35947753 single base substitution G A intron_variant MELA-AU 13 35947772 35947772 single base substitution G A intron_variant MELA-AU 13 35947868 35947868 single base substitution C T intron_variant MELA-AU 13 35947961 35947962 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 13 35948069 35948069 single base substitution C T intron_variant MELA-AU 13 35948228 35948228 single base substitution C T intron_variant MELA-AU 13 35948322 35948322 deletion of <=200bp A - intron_variant MELA-AU 13 35948378 35948378 single base substitution G A intron_variant MELA-AU 13 35948390 35948390 single base substitution G A intron_variant MELA-AU 13 35948579 35948579 single base substitution C T intron_variant MELA-AU 13 35948744 35948744 single base substitution C T intron_variant MELA-AU 13 35948757 35948757 single base substitution G A intron_variant MELA-AU 13 35948778 35948778 single base substitution G A intron_variant MELA-AU 13 35948802 35948802 single base substitution T C intron_variant MELA-AU 13 35948881 35948881 single base substitution C T intron_variant MELA-AU 13 35948914 35948914 single base substitution T A intron_variant MELA-AU 13 35949259 35949259 single base substitution A T intron_variant MELA-AU 13 35949293 35949293 single base substitution C T intron_variant MELA-AU 13 35949559 35949559 single base substitution C T intron_variant MELA-AU 13 35949566 35949566 single base substitution C T intron_variant MELA-AU 13 35949573 35949573 single base substitution G A intron_variant MELA-AU 13 35949592 35949592 single base substitution C T intron_variant MELA-AU 13 35949648 35949648 single base substitution C A intron_variant MELA-AU 13 35949657 35949657 single base substitution C T intron_variant MELA-AU 13 35950123 35950123 single base substitution G A intron_variant MELA-AU 13 35950266 35950266 single base substitution G A intron_variant MELA-AU 13 35950403 35950403 single base substitution C T intron_variant MELA-AU 13 35950447 35950447 single base substitution C T intron_variant MELA-AU 13 35950556 35950556 single base substitution T A intron_variant MELA-AU 13 35950558 35950558 single base substitution C T intron_variant MELA-AU 13 35950688 35950688 single base substitution T C intron_variant MELA-AU 13 35950720 35950720 single base substitution C T intron_variant MELA-AU 13 35950812 35950812 single base substitution G A intron_variant MELA-AU 13 35950821 35950821 single base substitution G A intron_variant MELA-AU 13 35950825 35950825 single base substitution C T intron_variant MELA-AU 13 35950923 35950923 single base substitution G A intron_variant MELA-AU 13 35950930 35950930 single base substitution G A intron_variant MELA-AU 13 35951091 35951091 single base substitution C T intron_variant MELA-AU 13 35951103 35951103 single base substitution A T intron_variant MELA-AU 13 35951105 35951105 single base substitution G A intron_variant MELA-AU 13 35951134 35951134 single base substitution T A intron_variant MELA-AU 13 35951205 35951205 single base substitution G A intron_variant MELA-AU 13 35951918 35951918 single base substitution C T intron_variant MELA-AU 13 35952066 35952066 single base substitution C T intron_variant MELA-AU 13 35952067 35952067 single base substitution T G intron_variant MELA-AU 13 35952714 35952714 single base substitution C T intron_variant MELA-AU 13 35953288 35953288 single base substitution T A intron_variant MELA-AU 13 35953842 35953842 single base substitution G A intron_variant MELA-AU 13 35953850 35953850 single base substitution T A intron_variant MELA-AU 13 35953865 35953865 single base substitution G A intron_variant MELA-AU 13 35953899 35953899 single base substitution C T intron_variant MELA-AU 13 35954116 35954116 single base substitution G A intron_variant MELA-AU 13 35954205 35954205 single base substitution C T intron_variant MELA-AU 13 35954292 35954293 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 13 35954379 35954379 single base substitution C T intron_variant MELA-AU 13 35954385 35954385 single base substitution C T intron_variant MELA-AU 13 35954414 35954414 single base substitution C T intron_variant MELA-AU 13 35954735 35954735 single base substitution T A intron_variant MELA-AU 13 35954825 35954825 single base substitution T A intron_variant MELA-AU 13 35954911 35954911 single base substitution C T intron_variant MELA-AU 13 35955088 35955088 single base substitution C T intron_variant MELA-AU 13 35955871 35955871 single base substitution C T intron_variant MELA-AU 13 35956266 35956266 single base substitution A G intron_variant MELA-AU 13 35956386 35956386 single base substitution C T intron_variant MELA-AU 13 35956467 35956467 single base substitution C T intron_variant MELA-AU 13 35956493 35956493 single base substitution T C intron_variant MELA-AU 13 35956957 35956957 single base substitution G A intron_variant MELA-AU 13 35957333 35957333 single base substitution G A intron_variant MELA-AU 13 35957531 35957531 single base substitution G A intron_variant MELA-AU 13 35957562 35957562 single base substitution G A intron_variant MELA-AU 13 35957735 35957735 single base substitution C T intron_variant MELA-AU 13 35957744 35957744 single base substitution C T intron_variant MELA-AU 13 35957765 35957765 single base substitution C T intron_variant MELA-AU 13 35957926 35957926 single base substitution G A intron_variant MELA-AU 13 35957935 35957935 single base substitution T C intron_variant MELA-AU 13 35958076 35958076 single base substitution G A intron_variant MELA-AU 13 35958367 35958367 single base substitution C T intron_variant MELA-AU 13 35958576 35958576 single base substitution C T intron_variant MELA-AU 13 35958888 35958888 single base substitution C T intron_variant MELA-AU 13 35958984 35958984 single base substitution C T intron_variant MELA-AU 13 35959469 35959469 single base substitution C T intron_variant MELA-AU 13 35959492 35959492 single base substitution C T intron_variant MELA-AU 13 35959523 35959523 single base substitution T A intron_variant MELA-AU 13 35959641 35959641 single base substitution G A intron_variant MELA-AU 13 35959677 35959677 single base substitution A T intron_variant MELA-AU 13 35959766 35959767 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35960771 35960771 single base substitution C T intron_variant MELA-AU 13 35960900 35960900 single base substitution A G intron_variant MELA-AU 13 35961112 35961112 single base substitution G A intron_variant MELA-AU 13 35961169 35961169 single base substitution C T intron_variant MELA-AU 13 35961259 35961259 single base substitution G A intron_variant MELA-AU 13 35961503 35961503 single base substitution C T intron_variant MELA-AU 13 35961583 35961583 single base substitution C T intron_variant MELA-AU 13 35961755 35961755 single base substitution G A intron_variant MELA-AU 13 35961873 35961873 single base substitution G A intron_variant MELA-AU 13 35962125 35962125 single base substitution G A intron_variant MELA-AU 13 35962167 35962167 single base substitution G A intron_variant MELA-AU 13 35962172 35962172 single base substitution G A intron_variant MELA-AU 13 35962221 35962221 single base substitution C T intron_variant MELA-AU 13 35962460 35962460 single base substitution C T intron_variant MELA-AU 13 35962863 35962863 single base substitution A T intron_variant MELA-AU 13 35963031 35963031 single base substitution C T intron_variant MELA-AU 13 35963089 35963089 single base substitution T C intron_variant MELA-AU 13 35963338 35963338 single base substitution G A intron_variant MELA-AU 13 35963401 35963401 single base substitution C T intron_variant MELA-AU 13 35963439 35963439 single base substitution G A intron_variant MELA-AU 13 35963886 35963887 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35964072 35964072 single base substitution C T intron_variant MELA-AU 13 35964105 35964105 single base substitution A G intron_variant MELA-AU 13 35964163 35964163 single base substitution C G intron_variant MELA-AU 13 35964567 35964567 single base substitution C T intron_variant MELA-AU 13 35964572 35964572 single base substitution C T intron_variant MELA-AU 13 35964684 35964684 single base substitution G T intron_variant MELA-AU 13 35964711 35964711 single base substitution C T intron_variant MELA-AU 13 35964785 35964785 single base substitution G A intron_variant MELA-AU 13 35964867 35964867 single base substitution G A intron_variant MELA-AU 13 35965160 35965160 single base substitution C T intron_variant MELA-AU 13 35965209 35965209 single base substitution C T intron_variant MELA-AU 13 35965262 35965262 single base substitution A T intron_variant MELA-AU 13 35965338 35965338 single base substitution G A intron_variant MELA-AU 13 35965389 35965389 single base substitution G A intron_variant MELA-AU 13 35965486 35965486 single base substitution G A intron_variant MELA-AU 13 35965912 35965912 single base substitution G A intron_variant MELA-AU 13 35966334 35966334 single base substitution C T intron_variant MELA-AU 13 35966348 35966348 single base substitution G A intron_variant MELA-AU 13 35966434 35966434 single base substitution G A intron_variant MELA-AU 13 35966504 35966504 single base substitution A G intron_variant MELA-AU 13 35966559 35966559 single base substitution G A intron_variant MELA-AU 13 35966735 35966735 single base substitution T C intron_variant MELA-AU 13 35966814 35966814 single base substitution T C intron_variant MELA-AU 13 35967220 35967220 single base substitution C T intron_variant MELA-AU 13 35967275 35967275 single base substitution A T intron_variant MELA-AU 13 35967278 35967278 single base substitution C T intron_variant MELA-AU 13 35967397 35967397 single base substitution G A intron_variant MELA-AU 13 35967489 35967489 single base substitution G A intron_variant MELA-AU 13 35967491 35967491 single base substitution A C intron_variant MELA-AU 13 35967681 35967681 single base substitution T A intron_variant MELA-AU 13 35967744 35967744 single base substitution G A intron_variant MELA-AU 13 35967751 35967751 single base substitution C T intron_variant MELA-AU 13 35967851 35967851 single base substitution G A intron_variant MELA-AU 13 35968029 35968029 single base substitution C T intron_variant MELA-AU 13 35968128 35968128 single base substitution G A intron_variant MELA-AU 13 35968176 35968176 single base substitution C T intron_variant MELA-AU 13 35968347 35968347 single base substitution C T intron_variant MELA-AU 13 35968375 35968377 multiple base substitution (>=2bp and <=200bp) GGA AAC intron_variant MELA-AU 13 35968503 35968503 single base substitution C T intron_variant MELA-AU 13 35968649 35968649 single base substitution C T intron_variant MELA-AU 13 35968764 35968764 single base substitution C T intron_variant MELA-AU 13 35968793 35968793 single base substitution G A intron_variant MELA-AU 13 35968799 35968799 single base substitution G A intron_variant MELA-AU 13 35968880 35968880 single base substitution C T intron_variant MELA-AU 13 35968922 35968922 single base substitution T C intron_variant MELA-AU 13 35969083 35969083 single base substitution C T intron_variant MELA-AU 13 35969112 35969112 single base substitution T G intron_variant MELA-AU 13 35969174 35969174 single base substitution T A intron_variant MELA-AU 13 35969415 35969415 single base substitution G A intron_variant MELA-AU 13 35969510 35969510 single base substitution C T intron_variant MELA-AU 13 35969781 35969781 single base substitution A G intron_variant MELA-AU 13 35969899 35969899 single base substitution G A intron_variant MELA-AU 13 35970049 35970049 single base substitution T A intron_variant MELA-AU 13 35970141 35970141 single base substitution C T intron_variant MELA-AU 13 35970149 35970149 single base substitution C T intron_variant MELA-AU 13 35970240 35970240 single base substitution C T intron_variant MELA-AU 13 35970318 35970318 single base substitution C T intron_variant MELA-AU 13 35970348 35970348 single base substitution C T intron_variant MELA-AU 13 35970368 35970368 single base substitution C T intron_variant MELA-AU 13 35970522 35970522 single base substitution G A intron_variant MELA-AU 13 35970539 35970539 single base substitution C T intron_variant MELA-AU 13 35970554 35970554 single base substitution A G intron_variant MELA-AU 13 35970581 35970581 single base substitution G A intron_variant MELA-AU 13 35970900 35970900 single base substitution C T intron_variant MELA-AU 13 35971188 35971188 single base substitution C T intron_variant MELA-AU 13 35971246 35971246 single base substitution C T intron_variant MELA-AU 13 35971400 35971400 single base substitution T G intron_variant MELA-AU 13 35971507 35971508 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35971640 35971640 single base substitution C T intron_variant MELA-AU 13 35971673 35971673 single base substitution C T intron_variant MELA-AU 13 35971781 35971781 single base substitution T A intron_variant MELA-AU 13 35971828 35971828 single base substitution G A intron_variant MELA-AU 13 35971834 35971834 single base substitution T A intron_variant MELA-AU 13 35971895 35971895 single base substitution G A intron_variant MELA-AU 13 35971950 35971951 multiple base substitution (>=2bp and <=200bp) GT TC intron_variant MELA-AU 13 35972139 35972140 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 35972151 35972151 single base substitution C T intron_variant MELA-AU 13 35972240 35972240 single base substitution A G intron_variant MELA-AU 13 35972275 35972275 single base substitution C T intron_variant MELA-AU 13 35972479 35972479 single base substitution C T intron_variant MELA-AU 13 35972719 35972719 single base substitution C T intron_variant MELA-AU 13 35972940 35972940 single base substitution G A intron_variant MELA-AU 13 35973101 35973101 single base substitution T C intron_variant MELA-AU 13 35973208 35973208 single base substitution G A intron_variant MELA-AU 13 35973236 35973236 single base substitution G A intron_variant MELA-AU 13 35973244 35973244 single base substitution C T intron_variant MELA-AU 13 35973297 35973297 single base substitution C T intron_variant MELA-AU 13 35973305 35973305 single base substitution T A intron_variant MELA-AU 13 35973372 35973372 single base substitution C T intron_variant MELA-AU 13 35973521 35973521 single base substitution C T intron_variant MELA-AU 13 35973524 35973525 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35973584 35973584 single base substitution G A intron_variant MELA-AU 13 35973716 35973716 single base substitution G A intron_variant MELA-AU 13 35973733 35973733 single base substitution G A intron_variant MELA-AU 13 35973794 35973794 single base substitution A C intron_variant MELA-AU 13 35973803 35973803 single base substitution C T intron_variant MELA-AU 13 35973912 35973912 single base substitution C T intron_variant MELA-AU 13 35974046 35974046 single base substitution G A intron_variant MELA-AU 13 35974055 35974055 single base substitution G A intron_variant MELA-AU 13 35974228 35974228 single base substitution C T intron_variant MELA-AU 13 35974414 35974414 single base substitution T C intron_variant MELA-AU 13 35974461 35974461 single base substitution C T intron_variant MELA-AU 13 35974646 35974646 single base substitution A G intron_variant MELA-AU 13 35974683 35974683 single base substitution A T intron_variant MELA-AU 13 35974768 35974768 single base substitution C T intron_variant MELA-AU 13 35974864 35974864 single base substitution G A intron_variant MELA-AU 13 35974960 35974960 single base substitution G A intron_variant MELA-AU 13 35975084 35975084 single base substitution G A intron_variant MELA-AU 13 35975232 35975232 single base substitution C T intron_variant MELA-AU 13 35975385 35975385 single base substitution G A intron_variant MELA-AU 13 35975582 35975582 single base substitution G A intron_variant MELA-AU 13 35975736 35975736 single base substitution C T intron_variant MELA-AU 13 35976002 35976002 single base substitution G A intron_variant MELA-AU 13 35976145 35976145 single base substitution C T intron_variant MELA-AU 13 35976226 35976226 single base substitution G A intron_variant MELA-AU 13 35976270 35976270 single base substitution C T intron_variant MELA-AU 13 35976311 35976311 single base substitution G A intron_variant MELA-AU 13 35976323 35976323 single base substitution G A intron_variant MELA-AU 13 35976503 35976503 single base substitution C T intron_variant MELA-AU 13 35976815 35976815 single base substitution G T intron_variant MELA-AU 13 35977049 35977049 single base substitution C T intron_variant MELA-AU 13 35977099 35977099 single base substitution C T intron_variant MELA-AU 13 35977163 35977163 single base substitution G A intron_variant MELA-AU 13 35977389 35977389 single base substitution T A intron_variant MELA-AU 13 35977394 35977394 single base substitution A T intron_variant MELA-AU 13 35977563 35977563 single base substitution A T intron_variant MELA-AU 13 35977568 35977568 single base substitution A G intron_variant MELA-AU 13 35977787 35977787 single base substitution C T intron_variant MELA-AU 13 35977911 35977911 single base substitution G A intron_variant MELA-AU 13 35977975 35977975 single base substitution A T intron_variant MELA-AU 13 35978075 35978075 single base substitution G A intron_variant MELA-AU 13 35978982 35978982 single base substitution G A intron_variant MELA-AU 13 35979102 35979102 single base substitution G A intron_variant MELA-AU 13 35979111 35979111 single base substitution G A intron_variant MELA-AU 13 35979119 35979119 single base substitution A T intron_variant MELA-AU 13 35979275 35979275 single base substitution G A intron_variant MELA-AU 13 35979530 35979530 single base substitution C T intron_variant MELA-AU 13 35979660 35979660 single base substitution C T intron_variant MELA-AU 13 35979740 35979740 single base substitution G A intron_variant MELA-AU 13 35979907 35979907 single base substitution C T intron_variant MELA-AU 13 35980146 35980146 single base substitution C T intron_variant MELA-AU 13 35980305 35980305 single base substitution C T intron_variant MELA-AU 13 35980327 35980327 single base substitution G A intron_variant MELA-AU 13 35980340 35980340 single base substitution C T intron_variant MELA-AU 13 35980462 35980462 single base substitution A T intron_variant MELA-AU 13 35980474 35980474 single base substitution G A intron_variant MELA-AU 13 35980577 35980577 single base substitution G A intron_variant MELA-AU 13 35980674 35980674 single base substitution G A intron_variant MELA-AU 13 35980819 35980819 single base substitution C T intron_variant MELA-AU 13 35980850 35980850 single base substitution C T intron_variant MELA-AU 13 35980885 35980885 single base substitution C T intron_variant MELA-AU 13 35981076 35981076 single base substitution G T intron_variant MELA-AU 13 35981206 35981206 single base substitution C T intron_variant MELA-AU 13 35981280 35981280 single base substitution T C intron_variant MELA-AU 13 35981281 35981281 single base substitution C T intron_variant MELA-AU 13 35981328 35981328 single base substitution C T intron_variant MELA-AU 13 35981339 35981339 single base substitution G A intron_variant MELA-AU 13 35981431 35981431 single base substitution G A intron_variant MELA-AU 13 35981491 35981491 single base substitution T C intron_variant MELA-AU 13 35981562 35981562 single base substitution C T intron_variant MELA-AU 13 35981599 35981599 single base substitution G A intron_variant MELA-AU 13 35981709 35981709 single base substitution G A intron_variant MELA-AU 13 35981966 35981966 single base substitution G A intron_variant MELA-AU 13 35982040 35982040 single base substitution G A intron_variant MELA-AU 13 35982392 35982392 single base substitution G A intron_variant MELA-AU 13 35982450 35982450 single base substitution G A intron_variant MELA-AU 13 35982491 35982491 single base substitution A T intron_variant MELA-AU 13 35982794 35982794 single base substitution G A intron_variant MELA-AU 13 35982849 35982849 single base substitution G A intron_variant MELA-AU 13 35982878 35982878 single base substitution G A intron_variant MELA-AU 13 35983060 35983060 single base substitution G A intron_variant MELA-AU 13 35983145 35983145 single base substitution G A intron_variant MELA-AU 13 35983159 35983159 single base substitution C T intron_variant MELA-AU 13 35983246 35983246 single base substitution G A intron_variant MELA-AU 13 35983452 35983452 single base substitution G A intron_variant MELA-AU 13 35983734 35983734 single base substitution C T intron_variant MELA-AU 13 35983793 35983793 single base substitution C T intron_variant MELA-AU 13 35983877 35983877 single base substitution G A intron_variant MELA-AU 13 35984034 35984034 single base substitution T A intron_variant MELA-AU 13 35984290 35984290 single base substitution G A intron_variant MELA-AU 13 35984305 35984305 single base substitution G A intron_variant MELA-AU 13 35984334 35984334 single base substitution C T intron_variant MELA-AU 13 35984342 35984342 single base substitution C T intron_variant MELA-AU 13 35984569 35984569 single base substitution G A intron_variant MELA-AU 13 35984745 35984745 single base substitution C T intron_variant MELA-AU 13 35984856 35984856 single base substitution G T intron_variant MELA-AU 13 35984891 35984891 single base substitution T C intron_variant MELA-AU 13 35985109 35985109 single base substitution C T intron_variant MELA-AU 13 35985322 35985322 single base substitution C T intron_variant MELA-AU 13 35985465 35985465 single base substitution C T intron_variant MELA-AU 13 35985701 35985701 single base substitution C T intron_variant MELA-AU 13 35986009 35986009 single base substitution C T intron_variant MELA-AU 13 35986241 35986241 single base substitution G A intron_variant MELA-AU 13 35986437 35986437 single base substitution C T intron_variant MELA-AU 13 35986508 35986508 single base substitution C T intron_variant MELA-AU 13 35986570 35986570 single base substitution C T intron_variant MELA-AU 13 35986993 35986993 single base substitution A T intron_variant MELA-AU 13 35987204 35987205 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35987248 35987248 single base substitution G A intron_variant MELA-AU 13 35987430 35987430 single base substitution C T intron_variant MELA-AU 13 35987502 35987502 single base substitution T C intron_variant MELA-AU 13 35987676 35987676 single base substitution G A intron_variant MELA-AU 13 35987750 35987750 single base substitution A G intron_variant MELA-AU 13 35988172 35988172 single base substitution C T intron_variant MELA-AU 13 35988372 35988372 single base substitution C T intron_variant MELA-AU 13 35988508 35988508 single base substitution C T intron_variant MELA-AU 13 35988516 35988516 single base substitution C T intron_variant MELA-AU 13 35988532 35988532 single base substitution G A intron_variant MELA-AU 13 35988538 35988538 single base substitution C T intron_variant MELA-AU 13 35988629 35988629 single base substitution G A intron_variant MELA-AU 13 35988637 35988637 single base substitution G A intron_variant MELA-AU 13 35988845 35988845 single base substitution T C intron_variant MELA-AU 13 35989058 35989058 single base substitution C T intron_variant MELA-AU 13 35989078 35989078 single base substitution G A intron_variant MELA-AU 13 35989193 35989193 single base substitution C T intron_variant MELA-AU 13 35989628 35989628 single base substitution A T intron_variant MELA-AU 13 35989639 35989639 single base substitution A G intron_variant MELA-AU 13 35989710 35989710 single base substitution A G intron_variant MELA-AU 13 35989956 35989956 single base substitution T G intron_variant MELA-AU 13 35989992 35989992 single base substitution C T intron_variant MELA-AU 13 35990033 35990033 single base substitution C T intron_variant MELA-AU 13 35990102 35990102 single base substitution G A intron_variant MELA-AU 13 35990202 35990202 single base substitution G A intron_variant MELA-AU 13 35990263 35990263 single base substitution G A intron_variant MELA-AU 13 35990335 35990335 single base substitution C T intron_variant MELA-AU 13 35990343 35990343 single base substitution C T intron_variant MELA-AU 13 35990344 35990344 single base substitution C T intron_variant MELA-AU 13 35990417 35990417 single base substitution G A intron_variant MELA-AU 13 35990492 35990492 single base substitution G A intron_variant MELA-AU 13 35990525 35990525 single base substitution C T intron_variant MELA-AU 13 35990653 35990653 single base substitution C T intron_variant MELA-AU 13 35990790 35990790 single base substitution G A intron_variant MELA-AU 13 35990909 35990909 single base substitution C T intron_variant MELA-AU 13 35990959 35990959 single base substitution C T intron_variant MELA-AU 13 35991084 35991084 single base substitution T C intron_variant MELA-AU 13 35991120 35991120 single base substitution G A intron_variant MELA-AU 13 35991146 35991146 single base substitution C T intron_variant MELA-AU 13 35991352 35991352 single base substitution G A intron_variant MELA-AU 13 35991371 35991371 single base substitution C T intron_variant MELA-AU 13 35991443 35991443 single base substitution T C intron_variant MELA-AU 13 35991525 35991525 single base substitution C T intron_variant MELA-AU 13 35991647 35991647 single base substitution G A intron_variant MELA-AU 13 35991665 35991665 single base substitution C T intron_variant MELA-AU 13 35991678 35991678 single base substitution G A intron_variant MELA-AU 13 35991750 35991750 single base substitution A T intron_variant MELA-AU 13 35992114 35992114 single base substitution C T intron_variant MELA-AU 13 35992121 35992121 single base substitution C T intron_variant MELA-AU 13 35992122 35992122 single base substitution C T intron_variant MELA-AU 13 35992175 35992175 deletion of <=200bp T - intron_variant MELA-AU 13 35992222 35992222 single base substitution T A intron_variant MELA-AU 13 35992581 35992581 single base substitution C T intron_variant MELA-AU 13 35992737 35992737 single base substitution G A intron_variant MELA-AU 13 35992968 35992968 single base substitution C T intron_variant MELA-AU 13 35993045 35993045 single base substitution G A intron_variant MELA-AU 13 35993046 35993046 single base substitution G A intron_variant MELA-AU 13 35993085 35993085 single base substitution G A intron_variant MELA-AU 13 35993198 35993198 single base substitution G A intron_variant MELA-AU 13 35993299 35993299 single base substitution G A intron_variant MELA-AU 13 35993485 35993485 single base substitution G A intron_variant MELA-AU 13 35993524 35993524 single base substitution C T intron_variant MELA-AU 13 35993686 35993686 single base substitution G A intron_variant MELA-AU 13 35993769 35993769 single base substitution T C intron_variant MELA-AU 13 35993779 35993779 single base substitution C T intron_variant MELA-AU 13 35993792 35993792 single base substitution C T intron_variant MELA-AU 13 35994225 35994225 single base substitution C T intron_variant MELA-AU 13 35994252 35994252 single base substitution C T intron_variant MELA-AU 13 35994414 35994414 single base substitution C T intron_variant MELA-AU 13 35994415 35994415 single base substitution G A intron_variant MELA-AU 13 35994723 35994723 single base substitution G A intron_variant MELA-AU 13 35994735 35994735 single base substitution C T intron_variant MELA-AU 13 35994771 35994771 single base substitution C T intron_variant MELA-AU 13 35994789 35994790 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 35994940 35994940 single base substitution C T intron_variant MELA-AU 13 35994952 35994952 single base substitution T C intron_variant MELA-AU 13 35994988 35994988 single base substitution C T intron_variant MELA-AU 13 35995045 35995045 single base substitution G A intron_variant MELA-AU 13 35995589 35995589 single base substitution A C intron_variant MELA-AU 13 35995941 35995941 single base substitution G A intron_variant MELA-AU 13 35995962 35995962 single base substitution A G intron_variant MELA-AU 13 35995991 35995991 single base substitution C T intron_variant MELA-AU 13 35995999 35995999 single base substitution C T intron_variant MELA-AU 13 35996154 35996154 single base substitution C T intron_variant MELA-AU 13 35996253 35996253 single base substitution C T intron_variant MELA-AU 13 35996431 35996431 single base substitution C T intron_variant MELA-AU 13 35996432 35996432 single base substitution C T intron_variant MELA-AU 13 35996590 35996590 single base substitution C T intron_variant MELA-AU 13 35996668 35996668 single base substitution C T intron_variant MELA-AU 13 35996785 35996785 single base substitution C T intron_variant MELA-AU 13 35996790 35996790 single base substitution G A intron_variant MELA-AU 13 35996953 35996953 single base substitution C T intron_variant MELA-AU 13 35997353 35997353 single base substitution C T intron_variant MELA-AU 13 35997403 35997403 single base substitution G A intron_variant MELA-AU 13 35997576 35997576 single base substitution T G intron_variant MELA-AU 13 35997583 35997583 single base substitution G A intron_variant MELA-AU 13 35997761 35997761 single base substitution G A intron_variant MELA-AU 13 35997790 35997790 single base substitution G A intron_variant MELA-AU 13 35998039 35998039 single base substitution C T intron_variant MELA-AU 13 35998114 35998114 single base substitution T A intron_variant MELA-AU 13 35998199 35998199 single base substitution G A intron_variant MELA-AU 13 35998251 35998251 single base substitution C T intron_variant MELA-AU 13 35998260 35998260 single base substitution C T intron_variant MELA-AU 13 35998265 35998265 single base substitution C T intron_variant MELA-AU 13 35998272 35998272 single base substitution C T intron_variant MELA-AU 13 35998488 35998488 single base substitution T A intron_variant MELA-AU 13 35998642 35998642 single base substitution G T intron_variant MELA-AU 13 35998676 35998676 single base substitution G A intron_variant MELA-AU 13 35998703 35998703 single base substitution G A intron_variant MELA-AU 13 35998823 35998823 single base substitution C T intron_variant MELA-AU 13 35998948 35998948 single base substitution A T intron_variant MELA-AU 13 35999000 35999000 single base substitution C T intron_variant MELA-AU 13 35999024 35999024 single base substitution A C intron_variant MELA-AU 13 35999034 35999034 single base substitution G A intron_variant MELA-AU 13 35999141 35999141 single base substitution C T intron_variant MELA-AU 13 35999181 35999181 single base substitution C T intron_variant MELA-AU 13 35999238 35999238 single base substitution C T intron_variant MELA-AU 13 35999282 35999282 single base substitution C T intron_variant MELA-AU 13 35999286 35999286 single base substitution C T intron_variant MELA-AU 13 35999759 35999759 single base substitution C T intron_variant MELA-AU 13 35999845 35999845 single base substitution C A intron_variant MELA-AU 13 36000097 36000097 single base substitution G A intron_variant MELA-AU 13 36000309 36000309 single base substitution G A intron_variant MELA-AU 13 36000431 36000431 single base substitution C T intron_variant MELA-AU 13 36000451 36000451 single base substitution C T intron_variant MELA-AU 13 36000977 36000977 single base substitution C T intron_variant MELA-AU 13 36001020 36001020 single base substitution C T intron_variant MELA-AU 13 36001057 36001057 single base substitution C T intron_variant MELA-AU 13 36001189 36001189 single base substitution C T intron_variant MELA-AU 13 36001210 36001210 single base substitution T C intron_variant MELA-AU 13 36001223 36001223 single base substitution C T intron_variant MELA-AU 13 36001250 36001250 single base substitution G A intron_variant MELA-AU 13 36001285 36001285 single base substitution C T intron_variant MELA-AU 13 36001673 36001673 single base substitution C T intron_variant MELA-AU 13 36001753 36001753 single base substitution G A intron_variant MELA-AU 13 36001891 36001891 single base substitution G A intron_variant MELA-AU 13 36002079 36002079 single base substitution G A intron_variant MELA-AU 13 36002188 36002188 single base substitution G A intron_variant MELA-AU 13 36002193 36002193 single base substitution G A intron_variant MELA-AU 13 36002199 36002199 single base substitution C T intron_variant MELA-AU 13 36002258 36002258 single base substitution G A intron_variant MELA-AU 13 36002521 36002521 single base substitution C T intron_variant MELA-AU 13 36002544 36002544 single base substitution C T intron_variant MELA-AU 13 36002553 36002553 single base substitution C T intron_variant MELA-AU 13 36002573 36002573 single base substitution A C intron_variant MELA-AU 13 36002684 36002684 single base substitution C T intron_variant MELA-AU 13 36002842 36002842 single base substitution C T intron_variant MELA-AU 13 36002991 36002991 single base substitution C T intron_variant MELA-AU 13 36003375 36003375 single base substitution C T intron_variant MELA-AU 13 36003409 36003409 single base substitution C T intron_variant MELA-AU 13 36003416 36003416 single base substitution C T intron_variant MELA-AU 13 36003653 36003653 single base substitution C T intron_variant MELA-AU 13 36003755 36003755 single base substitution C T intron_variant MELA-AU 13 36003755 36003756 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 13 36003787 36003787 single base substitution G A intron_variant MELA-AU 13 36004185 36004185 single base substitution C T intron_variant MELA-AU 13 36004211 36004211 single base substitution C A intron_variant MELA-AU 13 36004269 36004269 single base substitution G A intron_variant MELA-AU 13 36004337 36004337 single base substitution C T intron_variant MELA-AU 13 36004441 36004441 single base substitution G A intron_variant MELA-AU 13 36004474 36004474 single base substitution G A intron_variant MELA-AU 13 36004673 36004673 single base substitution G A intron_variant MELA-AU 13 36004724 36004724 single base substitution G A intron_variant MELA-AU 13 36004742 36004742 single base substitution T C intron_variant MELA-AU 13 36004918 36004918 single base substitution T C intron_variant MELA-AU 13 36004959 36004959 single base substitution C T intron_variant MELA-AU 13 36005057 36005057 single base substitution G A intron_variant MELA-AU 13 36005198 36005198 single base substitution G A intron_variant MELA-AU 13 36005407 36005407 single base substitution G A intron_variant MELA-AU 13 36005417 36005417 single base substitution C T intron_variant MELA-AU 13 36005420 36005420 single base substitution C T intron_variant MELA-AU 13 36005604 36005604 single base substitution C G intron_variant MELA-AU 13 36005622 36005622 single base substitution C T intron_variant MELA-AU 13 36005797 36005797 single base substitution G A intron_variant MELA-AU 13 36006030 36006030 single base substitution C T intron_variant MELA-AU 13 36006308 36006308 single base substitution C T intron_variant MELA-AU 13 36006354 36006354 single base substitution C T intron_variant MELA-AU 13 36006392 36006392 single base substitution C T intron_variant MELA-AU 13 36006393 36006393 single base substitution C T intron_variant MELA-AU 13 36006460 36006460 single base substitution G A synonymous_variant R2075R 6225G>A MELA-AU 13 36006460 36006460 single base substitution G A synonymous_variant R2078R 6234G>A MELA-AU 13 36006612 36006612 single base substitution C T intron_variant MELA-AU 13 36006886 36006886 single base substitution C T intron_variant MELA-AU 13 36007066 36007066 single base substitution G A intron_variant MELA-AU 13 36007112 36007112 single base substitution G A intron_variant MELA-AU 13 36007341 36007341 single base substitution C T intron_variant MELA-AU 13 36007437 36007437 single base substitution G A intron_variant MELA-AU 13 36007708 36007708 single base substitution T A intron_variant MELA-AU 13 36007758 36007758 single base substitution C T intron_variant MELA-AU 13 36007822 36007822 single base substitution G A intron_variant MELA-AU 13 36007859 36007859 single base substitution C T intron_variant MELA-AU 13 36007917 36007917 single base substitution C T intron_variant MELA-AU 13 36008000 36008000 single base substitution G A intron_variant MELA-AU 13 36008131 36008131 single base substitution G A intron_variant MELA-AU 13 36008520 36008520 single base substitution C T intron_variant MELA-AU 13 36008550 36008550 single base substitution C T intron_variant MELA-AU 13 36008751 36008751 single base substitution C T intron_variant MELA-AU 13 36008792 36008792 single base substitution G A intron_variant MELA-AU 13 36008953 36008953 single base substitution C T intron_variant MELA-AU 13 36009033 36009033 single base substitution G A intron_variant MELA-AU 13 36009229 36009229 single base substitution G A intron_variant MELA-AU 13 36009301 36009301 single base substitution C T intron_variant MELA-AU 13 36009647 36009647 single base substitution T A intron_variant MELA-AU 13 36009784 36009784 single base substitution G A intron_variant MELA-AU 13 36009835 36009835 single base substitution G C intron_variant MELA-AU 13 36009903 36009903 single base substitution C T intron_variant MELA-AU 13 36010001 36010001 single base substitution C T intron_variant MELA-AU 13 36010070 36010070 single base substitution C T intron_variant MELA-AU 13 36010115 36010115 single base substitution G A intron_variant MELA-AU 13 36010240 36010240 single base substitution C T intron_variant MELA-AU 13 36010523 36010523 single base substitution A T intron_variant MELA-AU 13 36010541 36010542 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36010771 36010771 single base substitution C T intron_variant MELA-AU 13 36010832 36010832 single base substitution G A intron_variant MELA-AU 13 36010938 36010939 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36011101 36011101 single base substitution T G intron_variant MELA-AU 13 36011122 36011123 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36011346 36011346 single base substitution C T intron_variant MELA-AU 13 36011569 36011569 single base substitution C T intron_variant MELA-AU 13 36011949 36011949 single base substitution G A intron_variant MELA-AU 13 36012199 36012199 single base substitution T C intron_variant MELA-AU 13 36012252 36012252 single base substitution G A intron_variant MELA-AU 13 36012415 36012415 single base substitution G A intron_variant MELA-AU 13 36012574 36012574 single base substitution G T intron_variant MELA-AU 13 36012673 36012673 single base substitution T A intron_variant MELA-AU 13 36012758 36012758 single base substitution C T intron_variant MELA-AU 13 36012759 36012759 single base substitution C T intron_variant MELA-AU 13 36012802 36012802 single base substitution T A intron_variant MELA-AU 13 36012856 36012857 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36012903 36012903 single base substitution C T intron_variant MELA-AU 13 36013033 36013033 single base substitution T A intron_variant MELA-AU 13 36013436 36013436 single base substitution C T intron_variant MELA-AU 13 36013443 36013443 single base substitution G A intron_variant MELA-AU 13 36013456 36013456 single base substitution C T intron_variant MELA-AU 13 36014010 36014010 single base substitution T A intron_variant MELA-AU 13 36014036 36014036 single base substitution G A intron_variant MELA-AU 13 36014046 36014046 single base substitution C T intron_variant MELA-AU 13 36014255 36014255 single base substitution G A intron_variant MELA-AU 13 36014299 36014299 single base substitution G A intron_variant MELA-AU 13 36014396 36014396 single base substitution G A intron_variant MELA-AU 13 36014539 36014539 single base substitution G A intron_variant MELA-AU 13 36014611 36014611 single base substitution C T intron_variant MELA-AU 13 36014698 36014698 single base substitution G A intron_variant MELA-AU 13 36014736 36014736 single base substitution G A intron_variant MELA-AU 13 36014773 36014773 single base substitution G A intron_variant MELA-AU 13 36015118 36015118 single base substitution C T intron_variant MELA-AU 13 36015297 36015297 single base substitution C T intron_variant MELA-AU 13 36015445 36015445 single base substitution G A intron_variant MELA-AU 13 36015454 36015454 single base substitution C T intron_variant MELA-AU 13 36015645 36015645 single base substitution C A intron_variant MELA-AU 13 36015676 36015676 single base substitution C T intron_variant MELA-AU 13 36015706 36015706 single base substitution C T intron_variant MELA-AU 13 36015769 36015769 single base substitution G A intron_variant MELA-AU 13 36015911 36015911 single base substitution G A intron_variant MELA-AU 13 36016074 36016074 single base substitution C T intron_variant MELA-AU 13 36016124 36016124 single base substitution C T intron_variant MELA-AU 13 36016175 36016175 single base substitution C T intron_variant MELA-AU 13 36016180 36016180 single base substitution C T intron_variant MELA-AU 13 36016229 36016229 single base substitution G A intron_variant MELA-AU 13 36016300 36016300 single base substitution C T intron_variant MELA-AU 13 36016494 36016494 single base substitution G A intron_variant MELA-AU 13 36016576 36016576 single base substitution C T intron_variant MELA-AU 13 36016712 36016712 single base substitution C T intron_variant MELA-AU 13 36016806 36016806 single base substitution C T intron_variant MELA-AU 13 36017031 36017031 single base substitution C T intron_variant MELA-AU 13 36017074 36017074 single base substitution G A intron_variant MELA-AU 13 36017179 36017179 single base substitution C T intron_variant MELA-AU 13 36017296 36017296 single base substitution C T intron_variant MELA-AU 13 36017793 36017793 single base substitution C T intron_variant MELA-AU 13 36017843 36017843 single base substitution A T intron_variant MELA-AU 13 36017904 36017904 single base substitution C T intron_variant MELA-AU 13 36018059 36018059 single base substitution C T intron_variant MELA-AU 13 36018123 36018123 single base substitution A G intron_variant MELA-AU 13 36018289 36018289 single base substitution C T intron_variant MELA-AU 13 36018295 36018295 single base substitution G A intron_variant MELA-AU 13 36018389 36018389 single base substitution T G intron_variant MELA-AU 13 36018578 36018578 single base substitution G A intron_variant MELA-AU 13 36018621 36018621 single base substitution T C intron_variant MELA-AU 13 36018679 36018679 single base substitution G A intron_variant MELA-AU 13 36018826 36018826 single base substitution C T intron_variant MELA-AU 13 36019068 36019068 single base substitution T A intron_variant MELA-AU 13 36019120 36019120 single base substitution G A intron_variant MELA-AU 13 36019194 36019194 single base substitution G A intron_variant MELA-AU 13 36019252 36019252 single base substitution C T intron_variant MELA-AU 13 36019338 36019338 deletion of <=200bp C - intron_variant MELA-AU 13 36019344 36019344 single base substitution C G intron_variant MELA-AU 13 36019404 36019404 single base substitution C T intron_variant MELA-AU 13 36019506 36019506 single base substitution C T intron_variant MELA-AU 13 36019601 36019601 single base substitution G A intron_variant MELA-AU 13 36019788 36019788 single base substitution C T intron_variant MELA-AU 13 36019855 36019855 single base substitution A G intron_variant MELA-AU 13 36019875 36019875 single base substitution G A intron_variant MELA-AU 13 36020722 36020722 single base substitution C T intron_variant MELA-AU 13 36020821 36020821 single base substitution A C intron_variant MELA-AU 13 36020859 36020859 single base substitution C T intron_variant MELA-AU 13 36021189 36021189 single base substitution G A intron_variant MELA-AU 13 36021370 36021370 single base substitution C T intron_variant MELA-AU 13 36021566 36021566 single base substitution G A intron_variant MELA-AU 13 36021642 36021642 single base substitution T A intron_variant MELA-AU 13 36022242 36022242 single base substitution G A intron_variant MELA-AU 13 36022472 36022472 single base substitution G A intron_variant MELA-AU 13 36022523 36022523 single base substitution T C intron_variant MELA-AU 13 36022785 36022785 single base substitution A G intron_variant MELA-AU 13 36023087 36023087 single base substitution G A intron_variant MELA-AU 13 36023233 36023233 single base substitution C T intron_variant MELA-AU 13 36023382 36023382 single base substitution G A intron_variant MELA-AU 13 36023418 36023418 single base substitution C T intron_variant MELA-AU 13 36023551 36023551 single base substitution A G intron_variant MELA-AU 13 36023576 36023576 single base substitution G A intron_variant MELA-AU 13 36023794 36023794 single base substitution G T intron_variant MELA-AU 13 36023819 36023819 single base substitution C T intron_variant MELA-AU 13 36023835 36023835 single base substitution A G intron_variant MELA-AU 13 36023901 36023901 single base substitution C T intron_variant MELA-AU 13 36023998 36023998 single base substitution C T intron_variant MELA-AU 13 36024116 36024116 single base substitution C T intron_variant MELA-AU 13 36024262 36024262 single base substitution G A intron_variant MELA-AU 13 36024325 36024325 single base substitution G A intron_variant MELA-AU 13 36024335 36024336 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 13 36024391 36024391 single base substitution C T intron_variant MELA-AU 13 36024556 36024556 single base substitution C T intron_variant MELA-AU 13 36024744 36024744 single base substitution G A intron_variant MELA-AU 13 36024812 36024812 single base substitution C T intron_variant MELA-AU 13 36024843 36024843 single base substitution C T intron_variant MELA-AU 13 36025157 36025157 single base substitution C T intron_variant MELA-AU 13 36025178 36025178 single base substitution A T intron_variant MELA-AU 13 36025213 36025213 single base substitution C T intron_variant MELA-AU 13 36025323 36025323 single base substitution C T intron_variant MELA-AU 13 36025359 36025359 single base substitution C T intron_variant MELA-AU 13 36025380 36025381 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36025494 36025494 single base substitution C T intron_variant MELA-AU 13 36025577 36025577 single base substitution A C intron_variant MELA-AU 13 36025658 36025658 single base substitution C T intron_variant MELA-AU 13 36025918 36025918 single base substitution G A intron_variant MELA-AU 13 36025948 36025948 single base substitution C T intron_variant MELA-AU 13 36026104 36026104 single base substitution C T intron_variant MELA-AU 13 36026395 36026395 single base substitution C T intron_variant MELA-AU 13 36026426 36026426 single base substitution G A intron_variant MELA-AU 13 36026437 36026437 single base substitution C T intron_variant MELA-AU 13 36026444 36026444 single base substitution C T intron_variant MELA-AU 13 36026578 36026578 single base substitution C T intron_variant MELA-AU 13 36026588 36026588 single base substitution C T intron_variant MELA-AU 13 36026738 36026738 single base substitution C T intron_variant MELA-AU 13 36026743 36026743 single base substitution C T intron_variant MELA-AU 13 36026801 36026801 single base substitution C T intron_variant MELA-AU 13 36026944 36026944 single base substitution G A intron_variant MELA-AU 13 36026969 36026969 single base substitution C T intron_variant MELA-AU 13 36027099 36027099 single base substitution C T intron_variant MELA-AU 13 36027301 36027301 single base substitution G A intron_variant MELA-AU 13 36027388 36027388 single base substitution C T intron_variant MELA-AU 13 36027426 36027426 single base substitution T C intron_variant MELA-AU 13 36027727 36027727 single base substitution T G intron_variant MELA-AU 13 36027737 36027737 single base substitution C T intron_variant MELA-AU 13 36027882 36027882 single base substitution G A intron_variant MELA-AU 13 36028025 36028025 single base substitution C T intron_variant MELA-AU 13 36028242 36028242 single base substitution C T intron_variant MELA-AU 13 36028328 36028328 single base substitution G A intron_variant MELA-AU 13 36028349 36028349 single base substitution C T intron_variant MELA-AU 13 36028353 36028353 single base substitution G A intron_variant MELA-AU 13 36028798 36028798 single base substitution C T intron_variant MELA-AU 13 36028916 36028916 single base substitution G A intron_variant MELA-AU 13 36028951 36028951 single base substitution C T intron_variant MELA-AU 13 36028972 36028972 single base substitution G A intron_variant MELA-AU 13 36029018 36029018 single base substitution A T intron_variant MELA-AU 13 36029043 36029043 single base substitution G A intron_variant MELA-AU 13 36029453 36029453 single base substitution G A intron_variant MELA-AU 13 36029706 36029706 single base substitution T C intron_variant MELA-AU 13 36029751 36029751 single base substitution C T intron_variant MELA-AU 13 36029912 36029912 single base substitution G A intron_variant MELA-AU 13 36030477 36030477 single base substitution A T intron_variant MELA-AU 13 36030726 36030726 single base substitution T C intron_variant MELA-AU 13 36030818 36030818 single base substitution G A intron_variant MELA-AU 13 36030845 36030845 single base substitution C T intron_variant MELA-AU 13 36031050 36031050 single base substitution T C intron_variant MELA-AU 13 36031165 36031165 single base substitution T C intron_variant MELA-AU 13 36031473 36031473 single base substitution G A intron_variant MELA-AU 13 36031513 36031513 single base substitution A C intron_variant MELA-AU 13 36031555 36031555 single base substitution C T intron_variant MELA-AU 13 36031711 36031711 single base substitution G A intron_variant MELA-AU 13 36031728 36031728 single base substitution C T intron_variant MELA-AU 13 36031869 36031869 single base substitution C T intron_variant MELA-AU 13 36032108 36032108 single base substitution C T intron_variant MELA-AU 13 36032133 36032133 single base substitution T C intron_variant MELA-AU 13 36032187 36032187 single base substitution C T intron_variant MELA-AU 13 36032292 36032292 single base substitution C T intron_variant MELA-AU 13 36032453 36032453 single base substitution C T intron_variant MELA-AU 13 36032734 36032734 single base substitution C T intron_variant MELA-AU 13 36032910 36032910 single base substitution C T intron_variant MELA-AU 13 36032997 36032997 single base substitution C T intron_variant MELA-AU 13 36033034 36033034 single base substitution A C intron_variant MELA-AU 13 36033076 36033076 single base substitution A T intron_variant MELA-AU 13 36033088 36033088 single base substitution G A intron_variant MELA-AU 13 36033285 36033285 single base substitution C T intron_variant MELA-AU 13 36033583 36033583 single base substitution G A intron_variant MELA-AU 13 36033593 36033593 single base substitution T C intron_variant MELA-AU 13 36033660 36033660 single base substitution C T intron_variant MELA-AU 13 36033988 36033988 single base substitution G A intron_variant MELA-AU 13 36034040 36034040 single base substitution G A intron_variant MELA-AU 13 36034145 36034145 single base substitution C T intron_variant MELA-AU 13 36034179 36034179 single base substitution C T intron_variant MELA-AU 13 36034184 36034184 single base substitution A T intron_variant MELA-AU 13 36034204 36034204 single base substitution T G intron_variant MELA-AU 13 36034214 36034214 single base substitution G A intron_variant MELA-AU 13 36034257 36034257 single base substitution G A intron_variant MELA-AU 13 36034315 36034315 single base substitution C T intron_variant MELA-AU 13 36034967 36034967 single base substitution G A intron_variant MELA-AU 13 36034982 36034982 single base substitution C A intron_variant MELA-AU 13 36035071 36035071 single base substitution C T intron_variant MELA-AU 13 36035214 36035214 single base substitution G A intron_variant MELA-AU 13 36035532 36035532 single base substitution A G intron_variant MELA-AU 13 36035780 36035780 single base substitution G A intron_variant MELA-AU 13 36035975 36035975 single base substitution C T intron_variant MELA-AU 13 36036257 36036257 single base substitution G A intron_variant MELA-AU 13 36036295 36036295 single base substitution C T intron_variant MELA-AU 13 36036344 36036344 single base substitution G T intron_variant MELA-AU 13 36036399 36036399 single base substitution G A intron_variant MELA-AU 13 36036501 36036501 single base substitution T G intron_variant MELA-AU 13 36036643 36036644 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 13 36036865 36036865 single base substitution G A intron_variant MELA-AU 13 36037349 36037349 single base substitution G A intron_variant MELA-AU 13 36037382 36037382 single base substitution C T intron_variant MELA-AU 13 36037526 36037526 single base substitution G A intron_variant MELA-AU 13 36037570 36037570 single base substitution G A intron_variant MELA-AU 13 36037581 36037581 single base substitution G A intron_variant MELA-AU 13 36037673 36037673 single base substitution G A intron_variant MELA-AU 13 36037852 36037852 single base substitution T C intron_variant MELA-AU 13 36037967 36037967 single base substitution G A intron_variant MELA-AU 13 36038194 36038194 single base substitution C T intron_variant MELA-AU 13 36038258 36038258 single base substitution G A intron_variant MELA-AU 13 36038269 36038269 single base substitution C T intron_variant MELA-AU 13 36038913 36038913 single base substitution C T intron_variant MELA-AU 13 36038914 36038914 single base substitution C T intron_variant MELA-AU 13 36039042 36039042 single base substitution C T intron_variant MELA-AU 13 36039053 36039053 single base substitution T G intron_variant MELA-AU 13 36039555 36039555 single base substitution G A intron_variant MELA-AU 13 36039634 36039634 single base substitution C T intron_variant MELA-AU 13 36040140 36040140 single base substitution G A intron_variant MELA-AU 13 36040197 36040197 single base substitution G A intron_variant MELA-AU 13 36040249 36040249 single base substitution C T intron_variant MELA-AU 13 36040538 36040538 single base substitution G A intron_variant MELA-AU 13 36040630 36040630 single base substitution C T intron_variant MELA-AU 13 36040740 36040740 single base substitution G A intron_variant MELA-AU 13 36040765 36040765 single base substitution C T intron_variant MELA-AU 13 36040802 36040802 single base substitution C T intron_variant MELA-AU 13 36040814 36040814 single base substitution C A intron_variant MELA-AU 13 36040894 36040894 single base substitution C T intron_variant MELA-AU 13 36041022 36041022 single base substitution G A intron_variant MELA-AU 13 36041133 36041133 single base substitution C T intron_variant MELA-AU 13 36041291 36041291 single base substitution G A intron_variant MELA-AU 13 36041301 36041301 single base substitution G C intron_variant MELA-AU 13 36041475 36041476 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36041486 36041486 single base substitution G T intron_variant MELA-AU 13 36041523 36041523 single base substitution C T intron_variant MELA-AU 13 36041681 36041681 single base substitution C T intron_variant MELA-AU 13 36041682 36041682 single base substitution C T intron_variant MELA-AU 13 36041873 36041873 single base substitution C T intron_variant MELA-AU 13 36041992 36041992 single base substitution G A intron_variant MELA-AU 13 36042116 36042117 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36042226 36042226 single base substitution C T intron_variant MELA-AU 13 36042260 36042260 single base substitution C T intron_variant MELA-AU 13 36042282 36042282 single base substitution C T intron_variant MELA-AU 13 36042320 36042320 single base substitution C T intron_variant MELA-AU 13 36042389 36042389 single base substitution C T intron_variant MELA-AU 13 36042487 36042487 single base substitution T A intron_variant MELA-AU 13 36043022 36043022 single base substitution G A intron_variant MELA-AU 13 36043131 36043131 single base substitution G A intron_variant MELA-AU 13 36043144 36043144 single base substitution G A intron_variant MELA-AU 13 36043173 36043173 single base substitution T C intron_variant MELA-AU 13 36043535 36043535 single base substitution G A intron_variant MELA-AU 13 36043654 36043654 single base substitution C T intron_variant MELA-AU 13 36043932 36043932 single base substitution C T intron_variant MELA-AU 13 36044090 36044090 single base substitution A G intron_variant MELA-AU 13 36044093 36044093 single base substitution G A intron_variant MELA-AU 13 36044095 36044095 single base substitution G A intron_variant MELA-AU 13 36044166 36044166 single base substitution C T intron_variant MELA-AU 13 36044232 36044232 single base substitution G A intron_variant MELA-AU 13 36044286 36044286 single base substitution C T intron_variant MELA-AU 13 36044348 36044348 single base substitution C T intron_variant MELA-AU 13 36044382 36044382 single base substitution G A intron_variant MELA-AU 13 36044509 36044509 single base substitution G A intron_variant MELA-AU 13 36044523 36044523 single base substitution C T intron_variant MELA-AU 13 36044734 36044734 single base substitution C T intron_variant MELA-AU 13 36044842 36044842 single base substitution G A intron_variant MELA-AU 13 36045074 36045074 single base substitution C T intron_variant MELA-AU 13 36045281 36045281 single base substitution C T intron_variant MELA-AU 13 36045641 36045641 single base substitution G A intron_variant MELA-AU 13 36046005 36046005 single base substitution G A intron_variant MELA-AU 13 36046005 36046005 single base substitution G A upstream_gene_variant MELA-AU 13 36046057 36046057 single base substitution G A intron_variant MELA-AU 13 36046057 36046057 single base substitution G A upstream_gene_variant MELA-AU 13 36046208 36046208 single base substitution G A intron_variant MELA-AU 13 36046208 36046208 single base substitution G A upstream_gene_variant MELA-AU 13 36046215 36046215 single base substitution G A intron_variant MELA-AU 13 36046215 36046215 single base substitution G A upstream_gene_variant MELA-AU 13 36046386 36046386 single base substitution C T intron_variant MELA-AU 13 36046386 36046386 single base substitution C T upstream_gene_variant MELA-AU 13 36046483 36046483 single base substitution G A intron_variant MELA-AU 13 36046483 36046483 single base substitution G A upstream_gene_variant MELA-AU 13 36046489 36046489 single base substitution G A intron_variant MELA-AU 13 36046489 36046489 single base substitution G A upstream_gene_variant MELA-AU 13 36046519 36046519 single base substitution C T intron_variant MELA-AU 13 36046519 36046519 single base substitution C T upstream_gene_variant MELA-AU 13 36047462 36047462 single base substitution G A intron_variant MELA-AU 13 36047462 36047462 single base substitution G A upstream_gene_variant MELA-AU 13 36048109 36048109 single base substitution G A intron_variant MELA-AU 13 36048109 36048109 single base substitution G A upstream_gene_variant MELA-AU 13 36048136 36048136 single base substitution G A intron_variant MELA-AU 13 36048136 36048136 single base substitution G A upstream_gene_variant MELA-AU 13 36048185 36048185 single base substitution G A intron_variant MELA-AU 13 36048185 36048185 single base substitution G A upstream_gene_variant MELA-AU 13 36048211 36048211 single base substitution C T intron_variant MELA-AU 13 36048211 36048211 single base substitution C T upstream_gene_variant MELA-AU 13 36048302 36048302 single base substitution C T intron_variant MELA-AU 13 36048302 36048302 single base substitution C T upstream_gene_variant MELA-AU 13 36048325 36048325 single base substitution G A intron_variant MELA-AU 13 36048325 36048325 single base substitution G A upstream_gene_variant MELA-AU 13 36048472 36048472 single base substitution T C intron_variant MELA-AU 13 36048472 36048472 single base substitution T C upstream_gene_variant MELA-AU 13 36048954 36048954 single base substitution G A intron_variant MELA-AU 13 36048954 36048954 single base substitution G A upstream_gene_variant MELA-AU 13 36049002 36049002 single base substitution C T intron_variant MELA-AU 13 36049002 36049002 single base substitution C T upstream_gene_variant MELA-AU 13 36049081 36049081 single base substitution T A intron_variant MELA-AU 13 36049081 36049081 single base substitution T A upstream_gene_variant MELA-AU 13 36049113 36049113 single base substitution G A intron_variant MELA-AU 13 36049113 36049113 single base substitution G A upstream_gene_variant MELA-AU 13 36049151 36049151 single base substitution G A intron_variant MELA-AU 13 36049151 36049151 single base substitution G A upstream_gene_variant MELA-AU 13 36049179 36049179 single base substitution C T intron_variant MELA-AU 13 36049179 36049179 single base substitution C T upstream_gene_variant MELA-AU 13 36049574 36049574 single base substitution G A intron_variant MELA-AU 13 36049574 36049574 single base substitution G A upstream_gene_variant MELA-AU 13 36049657 36049657 single base substitution C T intron_variant MELA-AU 13 36049657 36049657 single base substitution C T upstream_gene_variant MELA-AU 13 36049794 36049794 single base substitution C T intron_variant MELA-AU 13 36049794 36049794 single base substitution C T upstream_gene_variant MELA-AU 13 36050687 36050687 single base substitution C T intron_variant MELA-AU 13 36050687 36050687 single base substitution C T upstream_gene_variant MELA-AU 13 36050927 36050927 single base substitution A G 5_prime_UTR_variant MELA-AU 13 36050927 36050927 single base substitution A G intron_variant MELA-AU 13 36051289 36051289 single base substitution C G intron_variant MELA-AU 13 36051973 36051973 single base substitution G A intron_variant MELA-AU 13 36052001 36052001 single base substitution G A intron_variant MELA-AU 13 36052181 36052181 single base substitution C T intron_variant MELA-AU 13 36052250 36052250 single base substitution C T intron_variant MELA-AU 13 36052444 36052444 single base substitution C T intron_variant MELA-AU 13 36052687 36052687 single base substitution C T intron_variant MELA-AU 13 36052815 36052815 single base substitution C T intron_variant MELA-AU 13 36052874 36052874 single base substitution G A intron_variant MELA-AU 13 36052982 36052982 single base substitution G A intron_variant MELA-AU 13 36053214 36053214 single base substitution G A intron_variant MELA-AU 13 36053398 36053398 single base substitution C T intron_variant MELA-AU 13 36053436 36053436 single base substitution C T intron_variant MELA-AU 13 36054060 36054060 single base substitution C T intron_variant MELA-AU 13 36054078 36054078 single base substitution T G intron_variant MELA-AU 13 36054308 36054308 single base substitution G A intron_variant MELA-AU 13 36054827 36054827 single base substitution C A intron_variant MELA-AU 13 36055059 36055060 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36055190 36055190 single base substitution G A intron_variant MELA-AU 13 36055316 36055316 single base substitution C T intron_variant MELA-AU 13 36055417 36055417 single base substitution T C intron_variant MELA-AU 13 36055568 36055568 single base substitution G A intron_variant MELA-AU 13 36055838 36055838 single base substitution G A intron_variant MELA-AU 13 36056164 36056164 single base substitution G A intron_variant MELA-AU 13 36056341 36056341 single base substitution G A intron_variant MELA-AU 13 36056407 36056407 single base substitution G A intron_variant MELA-AU 13 36056424 36056424 single base substitution G A intron_variant MELA-AU 13 36056540 36056540 single base substitution C T intron_variant MELA-AU 13 36056612 36056612 single base substitution G A intron_variant MELA-AU 13 36056796 36056796 single base substitution T A intron_variant MELA-AU 13 36057049 36057049 single base substitution G A intron_variant MELA-AU 13 36058212 36058212 single base substitution G A intron_variant MELA-AU 13 36058494 36058494 single base substitution T C intron_variant MELA-AU 13 36058543 36058543 single base substitution G A intron_variant MELA-AU 13 36058926 36058926 single base substitution A T intron_variant MELA-AU 13 36058975 36058975 single base substitution C T intron_variant MELA-AU 13 36059039 36059039 single base substitution C T intron_variant MELA-AU 13 36059293 36059293 single base substitution G A intron_variant MELA-AU 13 36059638 36059638 single base substitution C T intron_variant MELA-AU 13 36059678 36059678 single base substitution C G intron_variant MELA-AU 13 36059771 36059771 single base substitution G A intron_variant MELA-AU 13 36059862 36059862 single base substitution A G intron_variant MELA-AU 13 36059996 36059996 single base substitution C T intron_variant MELA-AU 13 36060188 36060188 single base substitution G A intron_variant MELA-AU 13 36060313 36060313 single base substitution G A intron_variant MELA-AU 13 36060481 36060481 single base substitution G A intron_variant MELA-AU 13 36060553 36060553 single base substitution C T intron_variant MELA-AU 13 36060592 36060592 single base substitution G A intron_variant MELA-AU 13 36060890 36060890 single base substitution G A intron_variant MELA-AU 13 36061050 36061050 single base substitution C T intron_variant MELA-AU 13 36061087 36061087 single base substitution A G intron_variant MELA-AU 13 36061414 36061414 single base substitution G A intron_variant MELA-AU 13 36061618 36061618 single base substitution C T intron_variant MELA-AU 13 36062089 36062089 single base substitution G A intron_variant MELA-AU 13 36062287 36062287 single base substitution T A intron_variant MELA-AU 13 36062338 36062338 single base substitution A G intron_variant MELA-AU 13 36062381 36062381 single base substitution G A intron_variant MELA-AU 13 36062468 36062468 single base substitution C A intron_variant MELA-AU 13 36062536 36062536 single base substitution G A intron_variant MELA-AU 13 36063176 36063176 single base substitution C T intron_variant MELA-AU 13 36063190 36063190 single base substitution A G intron_variant MELA-AU 13 36063432 36063432 single base substitution G A intron_variant MELA-AU 13 36063592 36063592 single base substitution G A intron_variant MELA-AU 13 36063593 36063593 single base substitution G A intron_variant MELA-AU 13 36063641 36063641 single base substitution C T intron_variant MELA-AU 13 36063647 36063647 single base substitution G A intron_variant MELA-AU 13 36063684 36063684 single base substitution C T intron_variant MELA-AU 13 36063939 36063939 single base substitution G A intron_variant MELA-AU 13 36064007 36064007 single base substitution C T intron_variant MELA-AU 13 36064012 36064013 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36064013 36064013 single base substitution G A intron_variant MELA-AU 13 36064085 36064085 single base substitution C T intron_variant MELA-AU 13 36064093 36064093 single base substitution G A intron_variant MELA-AU 13 36064370 36064370 single base substitution A G intron_variant MELA-AU 13 36064466 36064466 single base substitution C T intron_variant MELA-AU 13 36064723 36064723 single base substitution G A intron_variant MELA-AU 13 36064737 36064738 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36065343 36065343 single base substitution C T intron_variant MELA-AU 13 36065350 36065350 single base substitution G A intron_variant MELA-AU 13 36065573 36065573 single base substitution C T intron_variant MELA-AU 13 36065833 36065833 single base substitution G A intron_variant MELA-AU 13 36065947 36065947 single base substitution G A intron_variant MELA-AU 13 36066185 36066185 single base substitution C T intron_variant MELA-AU 13 36066233 36066233 single base substitution G A intron_variant MELA-AU 13 36066331 36066331 single base substitution G A intron_variant MELA-AU 13 36066332 36066332 single base substitution G A intron_variant MELA-AU 13 36066347 36066347 single base substitution G A intron_variant MELA-AU 13 36066355 36066355 single base substitution G A intron_variant MELA-AU 13 36066459 36066459 single base substitution C T intron_variant MELA-AU 13 36066505 36066505 single base substitution G A intron_variant MELA-AU 13 36066516 36066516 single base substitution G A intron_variant MELA-AU 13 36066529 36066529 deletion of <=200bp T - intron_variant MELA-AU 13 36066636 36066636 single base substitution G A intron_variant MELA-AU 13 36066659 36066659 single base substitution C T intron_variant MELA-AU 13 36066714 36066714 single base substitution C T intron_variant MELA-AU 13 36066995 36066995 single base substitution G A intron_variant MELA-AU 13 36067252 36067252 single base substitution G A intron_variant MELA-AU 13 36067474 36067474 single base substitution C T intron_variant MELA-AU 13 36067494 36067494 single base substitution G A intron_variant MELA-AU 13 36067514 36067514 single base substitution C T intron_variant MELA-AU 13 36067542 36067542 single base substitution A G intron_variant MELA-AU 13 36067733 36067733 single base substitution C T intron_variant MELA-AU 13 36067766 36067766 single base substitution G A intron_variant MELA-AU 13 36068004 36068004 single base substitution C T intron_variant MELA-AU 13 36068056 36068056 single base substitution G A intron_variant MELA-AU 13 36068089 36068089 single base substitution C T intron_variant MELA-AU 13 36068127 36068127 single base substitution C T intron_variant MELA-AU 13 36068145 36068145 single base substitution C T intron_variant MELA-AU 13 36068347 36068347 single base substitution G A intron_variant MELA-AU 13 36068547 36068547 single base substitution C T intron_variant MELA-AU 13 36068743 36068743 single base substitution G A intron_variant MELA-AU 13 36068765 36068765 single base substitution A T intron_variant MELA-AU 13 36068785 36068785 single base substitution G A intron_variant MELA-AU 13 36069021 36069021 single base substitution C T intron_variant MELA-AU 13 36069172 36069172 single base substitution A C intron_variant MELA-AU 13 36069203 36069203 single base substitution A C intron_variant MELA-AU 13 36069504 36069504 single base substitution C T intron_variant MELA-AU 13 36069512 36069512 single base substitution G A intron_variant MELA-AU 13 36069567 36069567 single base substitution C T intron_variant MELA-AU 13 36069657 36069657 single base substitution C T intron_variant MELA-AU 13 36069846 36069846 single base substitution C T intron_variant MELA-AU 13 36069888 36069888 single base substitution G A intron_variant MELA-AU 13 36069915 36069915 deletion of <=200bp A - intron_variant MELA-AU 13 36069960 36069960 single base substitution A T intron_variant MELA-AU 13 36070018 36070018 single base substitution C T intron_variant MELA-AU 13 36070025 36070025 single base substitution G A intron_variant MELA-AU 13 36070144 36070144 single base substitution C T intron_variant MELA-AU 13 36070239 36070239 single base substitution G A intron_variant MELA-AU 13 36070274 36070274 single base substitution G A intron_variant MELA-AU 13 36070519 36070519 single base substitution C T intron_variant MELA-AU 13 36070621 36070621 single base substitution C T intron_variant MELA-AU 13 36070690 36070690 single base substitution G A intron_variant MELA-AU 13 36070994 36070994 single base substitution C T intron_variant MELA-AU 13 36071091 36071091 single base substitution C T intron_variant MELA-AU 13 36071341 36071341 single base substitution A G intron_variant MELA-AU 13 36071354 36071354 single base substitution G A intron_variant MELA-AU 13 36071719 36071719 single base substitution G A intron_variant MELA-AU 13 36071758 36071758 single base substitution C T intron_variant MELA-AU 13 36071760 36071760 single base substitution C T intron_variant MELA-AU 13 36071839 36071839 single base substitution T A intron_variant MELA-AU 13 36071960 36071960 single base substitution T A intron_variant MELA-AU 13 36072011 36072011 single base substitution G A intron_variant MELA-AU 13 36072293 36072293 single base substitution G A intron_variant MELA-AU 13 36072375 36072375 single base substitution C T intron_variant MELA-AU 13 36072553 36072553 single base substitution G A intron_variant MELA-AU 13 36072893 36072893 single base substitution T G intron_variant MELA-AU 13 36073022 36073022 single base substitution T A intron_variant MELA-AU 13 36073552 36073552 single base substitution C T intron_variant MELA-AU 13 36073774 36073774 single base substitution T G intron_variant MELA-AU 13 36073849 36073849 single base substitution C T intron_variant MELA-AU 13 36073932 36073932 single base substitution G T intron_variant MELA-AU 13 36074162 36074162 single base substitution T A intron_variant MELA-AU 13 36074179 36074179 single base substitution G A intron_variant MELA-AU 13 36074381 36074382 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 13 36074763 36074763 single base substitution T A intron_variant MELA-AU 13 36074858 36074858 single base substitution T A intron_variant MELA-AU 13 36074901 36074901 single base substitution C T intron_variant MELA-AU 13 36075160 36075160 single base substitution C T intron_variant MELA-AU 13 36075250 36075250 single base substitution C T intron_variant MELA-AU 13 36075303 36075303 single base substitution C T intron_variant MELA-AU 13 36075618 36075618 single base substitution T G intron_variant MELA-AU 13 36075667 36075667 single base substitution G A intron_variant MELA-AU 13 36075980 36075980 single base substitution G A intron_variant MELA-AU 13 36075984 36075984 single base substitution C T intron_variant MELA-AU 13 36076105 36076105 single base substitution G A intron_variant MELA-AU 13 36076514 36076514 single base substitution G A intron_variant MELA-AU 13 36076674 36076674 single base substitution C T intron_variant MELA-AU 13 36076849 36076849 single base substitution C T intron_variant MELA-AU 13 36076850 36076850 single base substitution C T intron_variant MELA-AU 13 36076906 36076906 single base substitution T A intron_variant MELA-AU 13 36076960 36076960 single base substitution C T intron_variant MELA-AU 13 36077062 36077062 single base substitution T A intron_variant MELA-AU 13 36077271 36077271 single base substitution C T intron_variant MELA-AU 13 36078004 36078004 single base substitution C T intron_variant MELA-AU 13 36078082 36078082 single base substitution C T intron_variant MELA-AU 13 36078167 36078167 single base substitution G A intron_variant MELA-AU 13 36078204 36078204 single base substitution A C intron_variant MELA-AU 13 36078209 36078209 single base substitution G A intron_variant MELA-AU 13 36078287 36078287 single base substitution G A intron_variant MELA-AU 13 36078325 36078325 single base substitution C T intron_variant MELA-AU 13 36078333 36078333 single base substitution G A intron_variant MELA-AU 13 36078707 36078707 single base substitution T C intron_variant MELA-AU 13 36078725 36078725 single base substitution G A intron_variant MELA-AU 13 36078735 36078735 single base substitution A G intron_variant MELA-AU 13 36078763 36078763 single base substitution G A intron_variant MELA-AU 13 36078767 36078767 single base substitution G A intron_variant MELA-AU 13 36078931 36078931 single base substitution G A intron_variant MELA-AU 13 36078992 36078992 single base substitution T A intron_variant MELA-AU 13 36079016 36079016 single base substitution T C intron_variant MELA-AU 13 36079017 36079017 single base substitution G A intron_variant MELA-AU 13 36079125 36079125 single base substitution C T intron_variant MELA-AU 13 36079473 36079473 single base substitution A C intron_variant MELA-AU 13 36079872 36079872 single base substitution C T intron_variant MELA-AU 13 36079937 36079937 single base substitution G A intron_variant MELA-AU 13 36079965 36079965 single base substitution A T intron_variant MELA-AU 13 36080023 36080023 single base substitution G A intron_variant MELA-AU 13 36080136 36080136 single base substitution C A intron_variant MELA-AU 13 36080177 36080177 single base substitution C T intron_variant MELA-AU 13 36080431 36080431 single base substitution C T intron_variant MELA-AU 13 36080572 36080572 single base substitution T A intron_variant MELA-AU 13 36080622 36080622 single base substitution C T intron_variant MELA-AU 13 36080651 36080651 single base substitution G A intron_variant MELA-AU 13 36080811 36080811 single base substitution G A intron_variant MELA-AU 13 36081108 36081108 single base substitution G A intron_variant MELA-AU 13 36081125 36081125 single base substitution C T intron_variant MELA-AU 13 36081255 36081255 single base substitution C T intron_variant MELA-AU 13 36081364 36081364 single base substitution C T intron_variant MELA-AU 13 36081400 36081400 single base substitution C T intron_variant MELA-AU 13 36081564 36081564 single base substitution C T intron_variant MELA-AU 13 36081675 36081675 single base substitution C T intron_variant MELA-AU 13 36081716 36081716 single base substitution C T intron_variant MELA-AU 13 36081949 36081949 single base substitution C T intron_variant MELA-AU 13 36082011 36082011 single base substitution G A intron_variant MELA-AU 13 36082108 36082108 single base substitution C T intron_variant MELA-AU 13 36082289 36082289 single base substitution G A intron_variant MELA-AU 13 36082375 36082375 single base substitution G A intron_variant MELA-AU 13 36082413 36082413 single base substitution G A intron_variant MELA-AU 13 36082704 36082704 single base substitution G A intron_variant MELA-AU 13 36082731 36082731 single base substitution A C intron_variant MELA-AU 13 36083077 36083077 single base substitution C T intron_variant MELA-AU 13 36083106 36083106 single base substitution G A intron_variant MELA-AU 13 36083197 36083197 single base substitution C T intron_variant MELA-AU 13 36083210 36083210 single base substitution A G intron_variant MELA-AU 13 36083335 36083335 single base substitution C T intron_variant MELA-AU 13 36083404 36083404 single base substitution G A intron_variant MELA-AU 13 36083511 36083512 deletion of <=200bp AG - intron_variant MELA-AU 13 36083604 36083604 single base substitution C T intron_variant MELA-AU 13 36083664 36083664 single base substitution C T intron_variant MELA-AU 13 36083943 36083943 single base substitution C T intron_variant MELA-AU 13 36083959 36083959 single base substitution G A intron_variant MELA-AU 13 36083998 36083998 single base substitution G A intron_variant MELA-AU 13 36084152 36084152 single base substitution G A intron_variant MELA-AU 13 36084244 36084244 single base substitution G A intron_variant MELA-AU 13 36084337 36084337 single base substitution C A intron_variant MELA-AU 13 36084705 36084705 single base substitution G A intron_variant MELA-AU 13 36084760 36084760 single base substitution G A intron_variant MELA-AU 13 36084784 36084784 single base substitution G A intron_variant MELA-AU 13 36084811 36084811 single base substitution G A intron_variant MELA-AU 13 36085048 36085048 single base substitution C T intron_variant MELA-AU 13 36085071 36085071 single base substitution C T intron_variant MELA-AU 13 36085077 36085077 single base substitution C T intron_variant MELA-AU 13 36085172 36085172 single base substitution G A intron_variant MELA-AU 13 36085203 36085203 single base substitution G A intron_variant MELA-AU 13 36085207 36085207 single base substitution G A intron_variant MELA-AU 13 36085235 36085235 single base substitution G A intron_variant MELA-AU 13 36085281 36085281 single base substitution C T intron_variant MELA-AU 13 36085313 36085313 single base substitution C T intron_variant MELA-AU 13 36085475 36085475 single base substitution T C intron_variant MELA-AU 13 36085488 36085488 single base substitution G A intron_variant MELA-AU 13 36085716 36085716 single base substitution G A intron_variant MELA-AU 13 36085981 36085981 single base substitution C A intron_variant MELA-AU 13 36086006 36086006 single base substitution T G intron_variant MELA-AU 13 36086250 36086250 single base substitution C T intron_variant MELA-AU 13 36086674 36086674 single base substitution C T intron_variant MELA-AU 13 36086676 36086676 single base substitution T A intron_variant MELA-AU 13 36086847 36086847 single base substitution C T intron_variant MELA-AU 13 36086933 36086933 single base substitution C T intron_variant MELA-AU 13 36087083 36087083 single base substitution G A intron_variant MELA-AU 13 36087221 36087221 single base substitution C T intron_variant MELA-AU 13 36087242 36087242 single base substitution C T intron_variant MELA-AU 13 36087377 36087377 single base substitution G A intron_variant MELA-AU 13 36087420 36087420 single base substitution C T intron_variant MELA-AU 13 36087491 36087491 single base substitution T C intron_variant MELA-AU 13 36087658 36087658 single base substitution G A intron_variant MELA-AU 13 36087690 36087690 single base substitution C T intron_variant MELA-AU 13 36087750 36087750 single base substitution G A intron_variant MELA-AU 13 36087769 36087769 single base substitution C T intron_variant MELA-AU 13 36087788 36087788 single base substitution C T intron_variant MELA-AU 13 36087856 36087856 single base substitution C T intron_variant MELA-AU 13 36088101 36088101 single base substitution G A intron_variant MELA-AU 13 36088161 36088161 single base substitution C T intron_variant MELA-AU 13 36088221 36088221 single base substitution C T intron_variant MELA-AU 13 36088266 36088266 single base substitution A T intron_variant MELA-AU 13 36088302 36088302 single base substitution G A intron_variant MELA-AU 13 36088395 36088395 single base substitution G A intron_variant MELA-AU 13 36088419 36088419 single base substitution G A intron_variant MELA-AU 13 36088463 36088463 single base substitution G A intron_variant MELA-AU 13 36088624 36088624 single base substitution C T intron_variant MELA-AU 13 36088701 36088701 single base substitution G A intron_variant MELA-AU 13 36088726 36088726 single base substitution A T intron_variant MELA-AU 13 36088770 36088770 single base substitution G A intron_variant MELA-AU 13 36088780 36088780 single base substitution C T intron_variant MELA-AU 13 36089212 36089212 single base substitution G A intron_variant MELA-AU 13 36089423 36089423 single base substitution C T intron_variant MELA-AU 13 36089702 36089702 single base substitution C T intron_variant MELA-AU 13 36089782 36089782 single base substitution T A intron_variant MELA-AU 13 36089784 36089784 single base substitution A T intron_variant MELA-AU 13 36089867 36089867 single base substitution C T intron_variant MELA-AU 13 36089979 36089979 single base substitution C T intron_variant MELA-AU 13 36090155 36090155 single base substitution C T intron_variant MELA-AU 13 36090184 36090184 single base substitution G A intron_variant MELA-AU 13 36090185 36090185 single base substitution G A intron_variant MELA-AU 13 36090344 36090344 single base substitution C T intron_variant MELA-AU 13 36090374 36090374 single base substitution G A intron_variant MELA-AU 13 36090407 36090407 single base substitution G A intron_variant MELA-AU 13 36090633 36090633 single base substitution G A intron_variant MELA-AU 13 36090751 36090751 single base substitution G A intron_variant MELA-AU 13 36090790 36090790 single base substitution G A intron_variant MELA-AU 13 36091030 36091030 single base substitution C T intron_variant MELA-AU 13 36091077 36091077 single base substitution G A intron_variant MELA-AU 13 36091096 36091096 single base substitution C T intron_variant MELA-AU 13 36091111 36091111 single base substitution C T intron_variant MELA-AU 13 36091204 36091204 single base substitution C T intron_variant MELA-AU 13 36091315 36091315 single base substitution C T intron_variant MELA-AU 13 36091320 36091320 single base substitution C T intron_variant MELA-AU 13 36091426 36091426 single base substitution G A intron_variant MELA-AU 13 36091437 36091437 single base substitution C T intron_variant MELA-AU 13 36091438 36091438 single base substitution C T intron_variant MELA-AU 13 36091488 36091488 single base substitution C T intron_variant MELA-AU 13 36091604 36091604 single base substitution C T intron_variant MELA-AU 13 36091653 36091653 single base substitution C T intron_variant MELA-AU 13 36091714 36091714 single base substitution C T intron_variant MELA-AU 13 36091729 36091729 single base substitution G A intron_variant MELA-AU 13 36091765 36091765 single base substitution C T intron_variant MELA-AU 13 36091810 36091810 single base substitution C T intron_variant MELA-AU 13 36091998 36091998 single base substitution C T intron_variant MELA-AU 13 36092040 36092040 single base substitution A G intron_variant MELA-AU 13 36092595 36092595 single base substitution A T intron_variant MELA-AU 13 36092636 36092636 single base substitution C T intron_variant MELA-AU 13 36092777 36092777 single base substitution G A intron_variant MELA-AU 13 36092847 36092847 single base substitution C T intron_variant MELA-AU 13 36092941 36092941 single base substitution C T intron_variant MELA-AU 13 36093117 36093117 single base substitution C T intron_variant MELA-AU 13 36093409 36093409 single base substitution C T intron_variant MELA-AU 13 36093658 36093658 single base substitution G A intron_variant MELA-AU 13 36093801 36093801 single base substitution A T intron_variant MELA-AU 13 36093858 36093858 single base substitution G A intron_variant MELA-AU 13 36094075 36094075 single base substitution C T intron_variant MELA-AU 13 36094122 36094122 single base substitution A G intron_variant MELA-AU 13 36094241 36094241 single base substitution C T intron_variant MELA-AU 13 36094265 36094265 single base substitution C T intron_variant MELA-AU 13 36094439 36094439 single base substitution G A intron_variant MELA-AU 13 36094468 36094468 single base substitution G A intron_variant MELA-AU 13 36094582 36094582 single base substitution C T intron_variant MELA-AU 13 36094620 36094620 single base substitution G A intron_variant MELA-AU 13 36094667 36094667 single base substitution G A intron_variant MELA-AU 13 36094696 36094696 single base substitution A C intron_variant MELA-AU 13 36094846 36094846 single base substitution G A intron_variant MELA-AU 13 36094916 36094916 single base substitution C T intron_variant MELA-AU 13 36095081 36095081 single base substitution C T intron_variant MELA-AU 13 36095160 36095160 single base substitution G A intron_variant MELA-AU 13 36095262 36095262 single base substitution C T intron_variant MELA-AU 13 36095392 36095392 single base substitution C T intron_variant MELA-AU 13 36095406 36095406 single base substitution C T intron_variant MELA-AU 13 36095484 36095484 single base substitution C T intron_variant MELA-AU 13 36095523 36095523 single base substitution C T intron_variant MELA-AU 13 36095600 36095600 single base substitution G A intron_variant MELA-AU 13 36095633 36095633 single base substitution G A intron_variant MELA-AU 13 36095655 36095655 single base substitution G A intron_variant MELA-AU 13 36095659 36095659 single base substitution G A intron_variant MELA-AU 13 36095862 36095862 single base substitution G A intron_variant MELA-AU 13 36095910 36095910 single base substitution C T intron_variant MELA-AU 13 36096034 36096034 single base substitution C T intron_variant MELA-AU 13 36096196 36096196 single base substitution A G intron_variant MELA-AU 13 36096308 36096308 single base substitution G A intron_variant MELA-AU 13 36096320 36096320 single base substitution A G intron_variant MELA-AU 13 36096356 36096356 single base substitution G A intron_variant MELA-AU 13 36096480 36096480 single base substitution C T intron_variant MELA-AU 13 36096682 36096682 single base substitution G A intron_variant MELA-AU 13 36096729 36096729 single base substitution C T intron_variant MELA-AU 13 36096922 36096922 single base substitution C T intron_variant MELA-AU 13 36097192 36097192 single base substitution C T intron_variant MELA-AU 13 36097219 36097219 single base substitution G A intron_variant MELA-AU 13 36097700 36097700 single base substitution G A intron_variant MELA-AU 13 36097711 36097711 single base substitution G A intron_variant MELA-AU 13 36097760 36097760 single base substitution C T intron_variant MELA-AU 13 36097807 36097807 single base substitution C T intron_variant MELA-AU 13 36097884 36097884 single base substitution C T intron_variant MELA-AU 13 36097888 36097888 single base substitution C T intron_variant MELA-AU 13 36097924 36097924 single base substitution C T intron_variant MELA-AU 13 36098004 36098004 single base substitution C T intron_variant MELA-AU 13 36098017 36098017 single base substitution C T intron_variant MELA-AU 13 36098272 36098272 single base substitution G A intron_variant MELA-AU 13 36098305 36098305 single base substitution C T intron_variant MELA-AU 13 36098454 36098454 single base substitution G A intron_variant MELA-AU 13 36098455 36098455 single base substitution G A intron_variant MELA-AU 13 36098701 36098701 single base substitution C A intron_variant MELA-AU 13 36098806 36098806 single base substitution G A intron_variant MELA-AU 13 36099103 36099103 single base substitution C T intron_variant MELA-AU 13 36099104 36099104 single base substitution C T intron_variant MELA-AU 13 36099436 36099437 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36099437 36099437 single base substitution C T intron_variant MELA-AU 13 36099455 36099455 single base substitution G A intron_variant MELA-AU 13 36099487 36099487 single base substitution G A intron_variant MELA-AU 13 36099514 36099514 single base substitution C T intron_variant MELA-AU 13 36099616 36099616 single base substitution G A intron_variant MELA-AU 13 36099646 36099646 single base substitution C G intron_variant MELA-AU 13 36099749 36099749 single base substitution C T intron_variant MELA-AU 13 36099763 36099763 single base substitution G A intron_variant MELA-AU 13 36100024 36100025 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36100040 36100040 single base substitution C T intron_variant MELA-AU 13 36100097 36100097 single base substitution G A intron_variant MELA-AU 13 36100102 36100102 single base substitution G A intron_variant MELA-AU 13 36100467 36100467 single base substitution C T intron_variant MELA-AU 13 36100610 36100610 single base substitution C T intron_variant MELA-AU 13 36100706 36100706 single base substitution C T intron_variant MELA-AU 13 36100758 36100758 single base substitution C T intron_variant MELA-AU 13 36100922 36100922 single base substitution C T intron_variant MELA-AU 13 36100997 36100997 single base substitution G A intron_variant MELA-AU 13 36101086 36101086 single base substitution C T intron_variant MELA-AU 13 36101173 36101173 single base substitution C T intron_variant MELA-AU 13 36101274 36101274 single base substitution G A intron_variant MELA-AU 13 36101414 36101414 single base substitution G A intron_variant MELA-AU 13 36101445 36101445 single base substitution G A intron_variant MELA-AU 13 36101446 36101446 single base substitution G A intron_variant MELA-AU 13 36101451 36101451 single base substitution C T intron_variant MELA-AU 13 36101540 36101540 single base substitution G A intron_variant MELA-AU 13 36101697 36101697 single base substitution G A intron_variant MELA-AU 13 36101823 36101823 single base substitution G A intron_variant MELA-AU 13 36101932 36101932 single base substitution G A intron_variant MELA-AU 13 36101974 36101974 single base substitution G A intron_variant MELA-AU 13 36102046 36102046 single base substitution C T intron_variant MELA-AU 13 36102363 36102363 single base substitution C T intron_variant MELA-AU 13 36102472 36102472 single base substitution C T intron_variant MELA-AU 13 36102699 36102699 single base substitution G A intron_variant MELA-AU 13 36102718 36102718 single base substitution G A intron_variant MELA-AU 13 36102900 36102900 single base substitution C A intron_variant MELA-AU 13 36103074 36103074 single base substitution C T intron_variant MELA-AU 13 36103112 36103112 single base substitution G A intron_variant MELA-AU 13 36103114 36103114 single base substitution G C intron_variant MELA-AU 13 36103142 36103143 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 13 36103420 36103420 single base substitution A G intron_variant MELA-AU 13 36103482 36103482 single base substitution C T intron_variant MELA-AU 13 36103496 36103496 single base substitution C T intron_variant MELA-AU 13 36103759 36103759 single base substitution G A intron_variant MELA-AU 13 36103778 36103778 single base substitution C T intron_variant MELA-AU 13 36103863 36103863 single base substitution T C intron_variant MELA-AU 13 36103950 36103950 deletion of <=200bp A - intron_variant MELA-AU 13 36104019 36104019 single base substitution G A intron_variant MELA-AU 13 36104158 36104159 multiple base substitution (>=2bp and <=200bp) GA CT intron_variant MELA-AU 13 36104371 36104371 single base substitution C T intron_variant MELA-AU 13 36104518 36104518 single base substitution G A intron_variant MELA-AU 13 36104590 36104590 single base substitution A T intron_variant MELA-AU 13 36104600 36104600 single base substitution C T intron_variant MELA-AU 13 36104719 36104719 single base substitution C T intron_variant MELA-AU 13 36105655 36105655 single base substitution G A intron_variant MELA-AU 13 36105739 36105739 single base substitution G A intron_variant MELA-AU 13 36105850 36105850 single base substitution C T intron_variant MELA-AU 13 36105914 36105914 single base substitution G C intron_variant MELA-AU 13 36106328 36106328 single base substitution G T intron_variant MELA-AU 13 36106415 36106415 single base substitution C T intron_variant MELA-AU 13 36106628 36106628 single base substitution C T intron_variant MELA-AU 13 36106700 36106700 single base substitution G A intron_variant MELA-AU 13 36106834 36106834 single base substitution C T intron_variant MELA-AU 13 36106899 36106899 single base substitution C T intron_variant MELA-AU 13 36106914 36106914 single base substitution C T intron_variant MELA-AU 13 36107302 36107302 single base substitution G A intron_variant MELA-AU 13 36107303 36107303 single base substitution G A intron_variant MELA-AU 13 36107448 36107448 single base substitution G A intron_variant MELA-AU 13 36107489 36107489 single base substitution G A intron_variant MELA-AU 13 36107564 36107564 single base substitution G A intron_variant MELA-AU 13 36107591 36107591 single base substitution C T intron_variant MELA-AU 13 36107614 36107614 single base substitution A G intron_variant MELA-AU 13 36107631 36107631 single base substitution C T intron_variant MELA-AU 13 36107843 36107843 single base substitution C T intron_variant MELA-AU 13 36107880 36107881 deletion of <=200bp TA - intron_variant MELA-AU 13 36107951 36107951 single base substitution C T intron_variant MELA-AU 13 36108028 36108028 single base substitution G A intron_variant MELA-AU 13 36108055 36108055 single base substitution G A intron_variant MELA-AU 13 36108152 36108152 single base substitution C T intron_variant MELA-AU 13 36108177 36108177 single base substitution G A intron_variant MELA-AU 13 36108243 36108243 single base substitution A T intron_variant MELA-AU 13 36108765 36108765 single base substitution G A intron_variant MELA-AU 13 36108903 36108903 single base substitution T A intron_variant MELA-AU 13 36109028 36109028 single base substitution G A intron_variant MELA-AU 13 36109201 36109201 single base substitution C T intron_variant MELA-AU 13 36109207 36109207 single base substitution C G intron_variant MELA-AU 13 36109386 36109386 single base substitution G A intron_variant MELA-AU 13 36109388 36109388 single base substitution A T intron_variant MELA-AU 13 36109539 36109540 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36109683 36109683 single base substitution C T intron_variant MELA-AU 13 36109699 36109699 single base substitution C T intron_variant MELA-AU 13 36110131 36110131 single base substitution C T intron_variant MELA-AU 13 36110191 36110191 single base substitution G A intron_variant MELA-AU 13 36110229 36110229 single base substitution G A intron_variant MELA-AU 13 36110531 36110531 single base substitution G A intron_variant MELA-AU 13 36110568 36110568 single base substitution C T intron_variant MELA-AU 13 36110634 36110634 single base substitution C T intron_variant MELA-AU 13 36110834 36110834 single base substitution G A intron_variant MELA-AU 13 36110860 36110860 single base substitution C T intron_variant MELA-AU 13 36110997 36110997 single base substitution C T intron_variant MELA-AU 13 36111330 36111331 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36111453 36111453 single base substitution C T intron_variant MELA-AU 13 36111513 36111513 single base substitution C T intron_variant MELA-AU 13 36111656 36111656 single base substitution G A intron_variant MELA-AU 13 36111706 36111706 single base substitution G A intron_variant MELA-AU 13 36112150 36112150 single base substitution G A intron_variant MELA-AU 13 36112182 36112182 single base substitution C T intron_variant MELA-AU 13 36112231 36112231 single base substitution C T intron_variant MELA-AU 13 36112309 36112309 single base substitution C T intron_variant MELA-AU 13 36112351 36112351 single base substitution C T intron_variant MELA-AU 13 36112512 36112512 single base substitution G A intron_variant MELA-AU 13 36112747 36112747 single base substitution C T intron_variant MELA-AU 13 36113049 36113049 single base substitution G A intron_variant MELA-AU 13 36113593 36113593 single base substitution G A intron_variant MELA-AU 13 36113595 36113595 single base substitution G A intron_variant MELA-AU 13 36113695 36113695 single base substitution G A intron_variant MELA-AU 13 36113781 36113781 single base substitution G A intron_variant MELA-AU 13 36113782 36113782 single base substitution G A intron_variant MELA-AU 13 36113972 36113972 single base substitution G A intron_variant MELA-AU 13 36113985 36113985 single base substitution G C intron_variant MELA-AU 13 36114007 36114007 single base substitution C T intron_variant MELA-AU 13 36114012 36114012 single base substitution C T intron_variant MELA-AU 13 36114202 36114202 single base substitution T A intron_variant MELA-AU 13 36114356 36114356 single base substitution C T intron_variant MELA-AU 13 36114475 36114476 multiple base substitution (>=2bp and <=200bp) AT GA intron_variant MELA-AU 13 36114912 36114912 single base substitution G A intron_variant MELA-AU 13 36115007 36115007 single base substitution C T intron_variant MELA-AU 13 36115070 36115070 single base substitution T A intron_variant MELA-AU 13 36115189 36115189 single base substitution G A intron_variant MELA-AU 13 36115436 36115436 single base substitution G A intron_variant MELA-AU 13 36115450 36115450 single base substitution C T intron_variant MELA-AU 13 36115488 36115488 single base substitution T C intron_variant MELA-AU 13 36115498 36115498 single base substitution G A intron_variant MELA-AU 13 36115899 36115899 single base substitution A G intron_variant MELA-AU 13 36116161 36116161 single base substitution G A intron_variant MELA-AU 13 36116278 36116278 single base substitution G A intron_variant MELA-AU 13 36116407 36116407 single base substitution G A intron_variant MELA-AU 13 36116442 36116442 single base substitution C T intron_variant MELA-AU 13 36116453 36116453 single base substitution C T intron_variant MELA-AU 13 36116493 36116493 single base substitution C T intron_variant MELA-AU 13 36116560 36116560 single base substitution G A intron_variant MELA-AU 13 36116571 36116571 single base substitution G A intron_variant MELA-AU 13 36116713 36116713 single base substitution C T intron_variant MELA-AU 13 36116747 36116747 single base substitution C T intron_variant MELA-AU 13 36116837 36116837 single base substitution C T intron_variant MELA-AU 13 36116923 36116923 single base substitution C T intron_variant MELA-AU 13 36116925 36116925 single base substitution G A intron_variant MELA-AU 13 36117037 36117037 single base substitution C T intron_variant MELA-AU 13 36117046 36117046 single base substitution C T intron_variant MELA-AU 13 36117053 36117053 single base substitution C T intron_variant MELA-AU 13 36117284 36117284 single base substitution G A intron_variant MELA-AU 13 36117333 36117333 single base substitution C T intron_variant MELA-AU 13 36117662 36117662 single base substitution G A intron_variant MELA-AU 13 36117663 36117663 single base substitution G A intron_variant MELA-AU 13 36117702 36117702 single base substitution C T intron_variant MELA-AU 13 36117712 36117712 single base substitution C T intron_variant MELA-AU 13 36117857 36117857 single base substitution G A intron_variant MELA-AU 13 36118066 36118066 single base substitution C T intron_variant MELA-AU 13 36118174 36118174 single base substitution C T intron_variant MELA-AU 13 36118225 36118225 single base substitution T A intron_variant MELA-AU 13 36118228 36118228 single base substitution G A intron_variant MELA-AU 13 36118248 36118248 single base substitution G A intron_variant MELA-AU 13 36118389 36118389 single base substitution G A intron_variant MELA-AU 13 36118395 36118395 single base substitution C T intron_variant MELA-AU 13 36118423 36118423 single base substitution C T intron_variant MELA-AU 13 36118435 36118435 single base substitution A G intron_variant MELA-AU 13 36118654 36118654 single base substitution C T intron_variant MELA-AU 13 36118853 36118853 single base substitution C T intron_variant MELA-AU 13 36119015 36119015 single base substitution G A intron_variant MELA-AU 13 36119186 36119186 single base substitution C T intron_variant MELA-AU 13 36119679 36119679 single base substitution C T intron_variant MELA-AU 13 36119792 36119792 single base substitution C T intron_variant MELA-AU 13 36119872 36119872 single base substitution G A intron_variant MELA-AU 13 36119963 36119963 single base substitution G A intron_variant MELA-AU 13 36120036 36120036 single base substitution C T intron_variant MELA-AU 13 36120194 36120194 single base substitution C T intron_variant MELA-AU 13 36120516 36120516 single base substitution C T intron_variant MELA-AU 13 36120851 36120851 deletion of <=200bp G - intron_variant MELA-AU 13 36120911 36120911 single base substitution C T intron_variant MELA-AU 13 36121296 36121296 single base substitution C T intron_variant MELA-AU 13 36121455 36121455 single base substitution A C intron_variant MELA-AU 13 36121525 36121525 single base substitution C T intron_variant MELA-AU 13 36121649 36121649 single base substitution G A intron_variant MELA-AU 13 36121702 36121702 single base substitution G A intron_variant MELA-AU 13 36121785 36121785 single base substitution G A intron_variant MELA-AU 13 36121882 36121882 single base substitution G A intron_variant MELA-AU 13 36122025 36122025 single base substitution C T intron_variant MELA-AU 13 36122048 36122048 single base substitution G A intron_variant MELA-AU 13 36122113 36122113 single base substitution G A intron_variant MELA-AU 13 36122297 36122297 single base substitution G A intron_variant MELA-AU 13 36122298 36122298 single base substitution G A intron_variant MELA-AU 13 36122483 36122483 single base substitution G A intron_variant MELA-AU 13 36122523 36122523 single base substitution C T intron_variant MELA-AU 13 36122545 36122545 single base substitution G A intron_variant MELA-AU 13 36122607 36122607 single base substitution G A intron_variant MELA-AU 13 36122677 36122677 single base substitution C T intron_variant MELA-AU 13 36122826 36122826 single base substitution C T intron_variant MELA-AU 13 36122854 36122854 single base substitution C T intron_variant MELA-AU 13 36122873 36122873 single base substitution C T intron_variant MELA-AU 13 36122874 36122874 single base substitution C T intron_variant MELA-AU 13 36123424 36123424 single base substitution G A intron_variant MELA-AU 13 36123425 36123425 single base substitution G A intron_variant MELA-AU 13 36123907 36123907 single base substitution C T intron_variant MELA-AU 13 36123927 36123927 single base substitution G A intron_variant MELA-AU 13 36123942 36123942 single base substitution G A intron_variant MELA-AU 13 36124049 36124049 single base substitution C T intron_variant MELA-AU 13 36124211 36124211 single base substitution C T intron_variant MELA-AU 13 36124270 36124270 single base substitution G A intron_variant MELA-AU 13 36124274 36124274 single base substitution G A intron_variant MELA-AU 13 36124283 36124283 single base substitution G A intron_variant MELA-AU 13 36124369 36124369 single base substitution A T intron_variant MELA-AU 13 36124374 36124374 single base substitution C T intron_variant MELA-AU 13 36124387 36124387 single base substitution C A intron_variant MELA-AU 13 36124411 36124411 single base substitution C T intron_variant MELA-AU 13 36124592 36124592 single base substitution C T intron_variant MELA-AU 13 36124642 36124642 single base substitution G A 5_prime_UTR_variant MELA-AU 13 36124642 36124642 single base substitution G A missense_variant G2202E 6605G>A MELA-AU 13 36124642 36124642 single base substitution G A missense_variant G2205E 6614G>A MELA-AU 13 36124724 36124724 single base substitution A C synonymous_variant A2229A 6687A>C MELA-AU 13 36124724 36124724 single base substitution A C synonymous_variant A2232A 6696A>C MELA-AU 13 36124724 36124724 single base substitution A C synonymous_variant A25A 75A>C MELA-AU 13 36124729 36124729 single base substitution G A missense_variant R2231Q 6692G>A MELA-AU 13 36124729 36124729 single base substitution G A missense_variant R2234Q 6701G>A MELA-AU 13 36124729 36124729 single base substitution G A missense_variant R27Q 80G>A MELA-AU 13 36124747 36124747 single base substitution A G intron_variant MELA-AU 13 36124975 36124975 single base substitution A T intron_variant MELA-AU 13 36124978 36124978 single base substitution C T intron_variant MELA-AU 13 36124992 36124992 single base substitution G A intron_variant MELA-AU 13 36125276 36125276 single base substitution A T intron_variant MELA-AU 13 36125492 36125492 single base substitution G A intron_variant MELA-AU 13 36125498 36125498 single base substitution T G intron_variant MELA-AU 13 36125544 36125544 single base substitution T A intron_variant MELA-AU 13 36125759 36125759 single base substitution C T intron_variant MELA-AU 13 36125878 36125879 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36126143 36126143 single base substitution G A intron_variant MELA-AU 13 36126216 36126216 single base substitution G A intron_variant MELA-AU 13 36126379 36126379 single base substitution C T intron_variant MELA-AU 13 36126703 36126703 single base substitution C T intron_variant MELA-AU 13 36126810 36126810 single base substitution C T intron_variant MELA-AU 13 36126829 36126829 single base substitution T C intron_variant MELA-AU 13 36126927 36126927 single base substitution C T intron_variant MELA-AU 13 36127027 36127027 single base substitution C T intron_variant MELA-AU 13 36127130 36127130 single base substitution G A intron_variant MELA-AU 13 36127135 36127135 single base substitution C T intron_variant MELA-AU 13 36127137 36127137 single base substitution T A intron_variant MELA-AU 13 36127270 36127270 single base substitution C T intron_variant MELA-AU 13 36127275 36127275 single base substitution C T intron_variant MELA-AU 13 36127299 36127299 single base substitution G A intron_variant MELA-AU 13 36127478 36127478 single base substitution C T intron_variant MELA-AU 13 36127668 36127668 single base substitution G A intron_variant MELA-AU 13 36127932 36127932 single base substitution C T intron_variant MELA-AU 13 36128102 36128103 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36128465 36128465 single base substitution C T intron_variant MELA-AU 13 36128620 36128620 single base substitution G A intron_variant MELA-AU 13 36128820 36128820 single base substitution G A intron_variant MELA-AU 13 36129127 36129127 single base substitution G A synonymous_variant R2267R 6801G>A MELA-AU 13 36129127 36129127 single base substitution G A synonymous_variant R2270R 6810G>A MELA-AU 13 36129127 36129127 single base substitution G A synonymous_variant R63R 189G>A MELA-AU 13 36129306 36129306 single base substitution G T intron_variant MELA-AU 13 36129450 36129450 single base substitution C T intron_variant MELA-AU 13 36129639 36129639 single base substitution G A intron_variant MELA-AU 13 36129942 36129942 single base substitution C T intron_variant MELA-AU 13 36130117 36130117 single base substitution G A intron_variant MELA-AU 13 36130250 36130250 single base substitution T C intron_variant MELA-AU 13 36130529 36130529 single base substitution A G intron_variant MELA-AU 13 36130633 36130633 single base substitution C T intron_variant MELA-AU 13 36130800 36130800 single base substitution C T intron_variant MELA-AU 13 36130838 36130838 single base substitution C T intron_variant MELA-AU 13 36130943 36130943 single base substitution C T intron_variant MELA-AU 13 36130975 36130975 single base substitution G A intron_variant MELA-AU 13 36131048 36131048 single base substitution C T intron_variant MELA-AU 13 36131054 36131054 single base substitution G A intron_variant MELA-AU 13 36131176 36131176 single base substitution C T intron_variant MELA-AU 13 36131240 36131240 single base substitution C T intron_variant MELA-AU 13 36131376 36131376 single base substitution T C intron_variant MELA-AU 13 36131641 36131641 single base substitution G A intron_variant MELA-AU 13 36131702 36131702 single base substitution G A intron_variant MELA-AU 13 36131820 36131820 single base substitution G A intron_variant MELA-AU 13 36131857 36131857 single base substitution A G intron_variant MELA-AU 13 36131920 36131920 single base substitution C T intron_variant MELA-AU 13 36131972 36131972 single base substitution G A intron_variant MELA-AU 13 36131977 36131977 single base substitution A T intron_variant MELA-AU 13 36132149 36132149 single base substitution G A intron_variant MELA-AU 13 36132155 36132155 single base substitution C T intron_variant MELA-AU 13 36132214 36132214 single base substitution G A intron_variant MELA-AU 13 36132298 36132298 single base substitution C T intron_variant MELA-AU 13 36132598 36132598 single base substitution C T intron_variant MELA-AU 13 36132827 36132827 single base substitution C T intron_variant MELA-AU 13 36132834 36132834 single base substitution C T intron_variant MELA-AU 13 36133041 36133041 single base substitution G A intron_variant MELA-AU 13 36133073 36133073 single base substitution G A intron_variant MELA-AU 13 36133214 36133214 single base substitution A C intron_variant MELA-AU 13 36133233 36133233 single base substitution G A intron_variant MELA-AU 13 36133351 36133351 single base substitution C T intron_variant MELA-AU 13 36133375 36133375 single base substitution C T intron_variant MELA-AU 13 36133418 36133418 single base substitution G A intron_variant MELA-AU 13 36133628 36133628 single base substitution C T intron_variant MELA-AU 13 36133632 36133632 single base substitution G A intron_variant MELA-AU 13 36133753 36133753 single base substitution C T intron_variant MELA-AU 13 36133857 36133857 single base substitution C T intron_variant MELA-AU 13 36133860 36133860 single base substitution G A intron_variant MELA-AU 13 36133978 36133978 single base substitution G A intron_variant MELA-AU 13 36133987 36133987 single base substitution G A intron_variant MELA-AU 13 36134462 36134462 single base substitution A T intron_variant MELA-AU 13 36134639 36134639 single base substitution G A intron_variant MELA-AU 13 36134696 36134696 single base substitution G T intron_variant MELA-AU 13 36134802 36134802 single base substitution G A intron_variant MELA-AU 13 36134844 36134844 single base substitution G A intron_variant MELA-AU 13 36134946 36134946 single base substitution C T intron_variant MELA-AU 13 36134962 36134962 single base substitution G A intron_variant MELA-AU 13 36134978 36134978 single base substitution G A intron_variant MELA-AU 13 36135064 36135064 single base substitution C T intron_variant MELA-AU 13 36135689 36135689 single base substitution A G intron_variant MELA-AU 13 36135767 36135767 single base substitution C T intron_variant MELA-AU 13 36135831 36135831 single base substitution C T intron_variant MELA-AU 13 36135929 36135929 deletion of <=200bp G - intron_variant MELA-AU 13 36135989 36135989 single base substitution G A intron_variant MELA-AU 13 36136097 36136097 single base substitution A C intron_variant MELA-AU 13 36136249 36136249 single base substitution C T intron_variant MELA-AU 13 36136320 36136320 single base substitution C T intron_variant MELA-AU 13 36136470 36136470 single base substitution G A intron_variant MELA-AU 13 36136499 36136499 single base substitution C T intron_variant MELA-AU 13 36136581 36136581 single base substitution G A intron_variant MELA-AU 13 36136689 36136689 single base substitution C T intron_variant MELA-AU 13 36136893 36136893 single base substitution G A intron_variant MELA-AU 13 36137101 36137101 single base substitution T A intron_variant MELA-AU 13 36137626 36137626 single base substitution C G intron_variant MELA-AU 13 36138158 36138158 single base substitution C T intron_variant MELA-AU 13 36138195 36138195 single base substitution C T intron_variant MELA-AU 13 36138457 36138457 single base substitution C T intron_variant MELA-AU 13 36138828 36138828 single base substitution T A intron_variant MELA-AU 13 36139494 36139494 single base substitution G A intron_variant MELA-AU 13 36139719 36139719 single base substitution G A intron_variant MELA-AU 13 36139794 36139794 single base substitution C T intron_variant MELA-AU 13 36139833 36139833 single base substitution C T intron_variant MELA-AU 13 36139865 36139865 single base substitution G A intron_variant MELA-AU 13 36139881 36139881 single base substitution T C intron_variant MELA-AU 13 36139901 36139901 single base substitution C T intron_variant MELA-AU 13 36140125 36140125 single base substitution C T intron_variant MELA-AU 13 36140146 36140146 single base substitution G A intron_variant MELA-AU 13 36140275 36140275 single base substitution G A intron_variant MELA-AU 13 36140417 36140417 single base substitution G A intron_variant MELA-AU 13 36140912 36140912 single base substitution G A intron_variant MELA-AU 13 36141033 36141033 single base substitution C T intron_variant MELA-AU 13 36141161 36141161 single base substitution T A splice_region_variant MELA-AU 13 36141321 36141321 single base substitution G A intron_variant MELA-AU 13 36141357 36141357 single base substitution A C intron_variant MELA-AU 13 36141359 36141359 single base substitution G A intron_variant MELA-AU 13 36141691 36141691 single base substitution G A intron_variant MELA-AU 13 36141725 36141725 single base substitution C T intron_variant MELA-AU 13 36141927 36141927 single base substitution T G intron_variant MELA-AU 13 36142332 36142332 single base substitution C T intron_variant MELA-AU 13 36142363 36142363 single base substitution C T intron_variant MELA-AU 13 36142592 36142592 single base substitution C T intron_variant MELA-AU 13 36142621 36142621 single base substitution G A intron_variant MELA-AU 13 36142895 36142895 single base substitution C T intron_variant MELA-AU 13 36143094 36143094 single base substitution T C intron_variant MELA-AU 13 36143101 36143101 single base substitution C T intron_variant MELA-AU 13 36143249 36143249 single base substitution G A intron_variant MELA-AU 13 36143404 36143404 single base substitution G A intron_variant MELA-AU 13 36143515 36143515 single base substitution G A intron_variant MELA-AU 13 36143616 36143616 single base substitution C T intron_variant MELA-AU 13 36143672 36143672 single base substitution C T intron_variant MELA-AU 13 36143961 36143961 single base substitution G A intron_variant MELA-AU 13 36144001 36144001 single base substitution G A intron_variant MELA-AU 13 36144077 36144077 single base substitution G A intron_variant MELA-AU 13 36144261 36144261 single base substitution C T intron_variant MELA-AU 13 36144280 36144280 single base substitution C T intron_variant MELA-AU 13 36144304 36144304 single base substitution G A intron_variant MELA-AU 13 36144305 36144305 single base substitution G A intron_variant MELA-AU 13 36144379 36144379 single base substitution G A intron_variant MELA-AU 13 36144387 36144387 single base substitution C T intron_variant MELA-AU 13 36144511 36144511 single base substitution C T intron_variant MELA-AU 13 36144528 36144528 single base substitution C T intron_variant MELA-AU 13 36144697 36144697 single base substitution G A intron_variant MELA-AU 13 36144934 36144934 single base substitution G A intron_variant MELA-AU 13 36144961 36144961 single base substitution G A intron_variant MELA-AU 13 36145000 36145000 single base substitution G A intron_variant MELA-AU 13 36145042 36145042 single base substitution C T intron_variant MELA-AU 13 36145132 36145132 single base substitution G A intron_variant MELA-AU 13 36145409 36145409 single base substitution G A intron_variant MELA-AU 13 36145446 36145446 single base substitution G A intron_variant MELA-AU 13 36145620 36145620 single base substitution C T intron_variant MELA-AU 13 36145655 36145655 single base substitution A T intron_variant MELA-AU 13 36145757 36145757 single base substitution T G intron_variant MELA-AU 13 36145759 36145759 single base substitution C T intron_variant MELA-AU 13 36145856 36145856 single base substitution G A intron_variant MELA-AU 13 36146303 36146303 single base substitution C T intron_variant MELA-AU 13 36146423 36146423 single base substitution T G intron_variant MELA-AU 13 36146469 36146469 single base substitution C T intron_variant MELA-AU 13 36146476 36146476 single base substitution C T intron_variant MELA-AU 13 36146582 36146582 single base substitution G A intron_variant MELA-AU 13 36146648 36146648 single base substitution C T intron_variant MELA-AU 13 36147258 36147258 single base substitution A G intron_variant MELA-AU 13 36147557 36147557 single base substitution G A intron_variant MELA-AU 13 36147752 36147752 single base substitution C T intron_variant MELA-AU 13 36147933 36147933 single base substitution G A intron_variant MELA-AU 13 36148002 36148002 single base substitution C T intron_variant MELA-AU 13 36148023 36148023 single base substitution C T intron_variant MELA-AU 13 36148029 36148029 single base substitution C T intron_variant MELA-AU 13 36148615 36148615 single base substitution C T intron_variant MELA-AU 13 36148816 36148816 single base substitution A C intron_variant MELA-AU 13 36149022 36149022 single base substitution G A intron_variant MELA-AU 13 36149325 36149325 single base substitution C T intron_variant MELA-AU 13 36149347 36149347 single base substitution T A intron_variant MELA-AU 13 36149369 36149369 single base substitution A T intron_variant MELA-AU 13 36149379 36149379 single base substitution G A intron_variant MELA-AU 13 36149393 36149393 single base substitution C T intron_variant MELA-AU 13 36149455 36149455 single base substitution A G intron_variant MELA-AU 13 36149569 36149569 single base substitution G A intron_variant MELA-AU 13 36149898 36149898 single base substitution C T intron_variant MELA-AU 13 36150111 36150111 single base substitution T C intron_variant MELA-AU 13 36150194 36150194 single base substitution G A intron_variant MELA-AU 13 36150256 36150256 single base substitution T G intron_variant MELA-AU 13 36150361 36150361 single base substitution C T intron_variant MELA-AU 13 36150453 36150453 single base substitution C T intron_variant MELA-AU 13 36150519 36150519 single base substitution T G intron_variant MELA-AU 13 36150747 36150747 single base substitution G A intron_variant MELA-AU 13 36150756 36150756 single base substitution G A intron_variant MELA-AU 13 36151110 36151110 single base substitution G A intron_variant MELA-AU 13 36151139 36151139 single base substitution G A intron_variant MELA-AU 13 36151403 36151403 single base substitution C T intron_variant MELA-AU 13 36151487 36151487 single base substitution G A intron_variant MELA-AU 13 36151612 36151612 single base substitution C T intron_variant MELA-AU 13 36151688 36151688 single base substitution G A intron_variant MELA-AU 13 36151738 36151738 single base substitution G A intron_variant MELA-AU 13 36151769 36151769 single base substitution C T intron_variant MELA-AU 13 36151776 36151776 single base substitution G A intron_variant MELA-AU 13 36151850 36151850 single base substitution G A intron_variant MELA-AU 13 36151906 36151906 single base substitution C T intron_variant MELA-AU 13 36152376 36152376 single base substitution C T intron_variant MELA-AU 13 36152481 36152481 single base substitution G A intron_variant MELA-AU 13 36152592 36152592 single base substitution G A intron_variant MELA-AU 13 36152663 36152663 single base substitution C T intron_variant MELA-AU 13 36152744 36152744 single base substitution C T intron_variant MELA-AU 13 36152784 36152784 single base substitution C T intron_variant MELA-AU 13 36152994 36152994 single base substitution G A intron_variant MELA-AU 13 36153041 36153041 single base substitution C T intron_variant MELA-AU 13 36153056 36153056 single base substitution G A intron_variant MELA-AU 13 36153179 36153179 single base substitution G A intron_variant MELA-AU 13 36153268 36153268 single base substitution C T intron_variant MELA-AU 13 36153582 36153582 single base substitution G A intron_variant MELA-AU 13 36153755 36153755 single base substitution G A intron_variant MELA-AU 13 36153882 36153882 single base substitution C T intron_variant MELA-AU 13 36153900 36153900 single base substitution G A intron_variant MELA-AU 13 36153945 36153945 single base substitution G A intron_variant MELA-AU 13 36154075 36154075 single base substitution C T intron_variant MELA-AU 13 36154432 36154432 single base substitution C T intron_variant MELA-AU 13 36154433 36154433 single base substitution C T intron_variant MELA-AU 13 36154571 36154571 single base substitution C T intron_variant MELA-AU 13 36154641 36154641 single base substitution A G intron_variant MELA-AU 13 36154642 36154642 single base substitution C T intron_variant MELA-AU 13 36154755 36154755 single base substitution C T intron_variant MELA-AU 13 36154821 36154821 single base substitution G A intron_variant MELA-AU 13 36154842 36154842 single base substitution A G intron_variant MELA-AU 13 36154973 36154973 single base substitution C T intron_variant MELA-AU 13 36155059 36155059 single base substitution C T intron_variant MELA-AU 13 36155097 36155097 single base substitution G A intron_variant MELA-AU 13 36155145 36155145 single base substitution G A intron_variant MELA-AU 13 36155328 36155328 single base substitution C T intron_variant MELA-AU 13 36155707 36155707 single base substitution C T intron_variant MELA-AU 13 36155738 36155738 single base substitution G A intron_variant MELA-AU 13 36155845 36155845 single base substitution G A intron_variant MELA-AU 13 36156049 36156049 insertion of <=200bp - T intron_variant MELA-AU 13 36156115 36156115 insertion of <=200bp - ATTT intron_variant MELA-AU 13 36156124 36156124 single base substitution G A intron_variant MELA-AU 13 36156184 36156184 single base substitution G A intron_variant MELA-AU 13 36156199 36156199 single base substitution G A intron_variant MELA-AU 13 36156214 36156214 single base substitution G A intron_variant MELA-AU 13 36156316 36156316 single base substitution G A intron_variant MELA-AU 13 36156478 36156478 single base substitution C T intron_variant MELA-AU 13 36156620 36156620 single base substitution G A intron_variant MELA-AU 13 36156633 36156633 single base substitution A T intron_variant MELA-AU 13 36156727 36156727 single base substitution G A intron_variant MELA-AU 13 36157240 36157240 single base substitution G A intron_variant MELA-AU 13 36157461 36157461 single base substitution C T intron_variant MELA-AU 13 36157621 36157621 single base substitution G A intron_variant MELA-AU 13 36157653 36157653 single base substitution C T intron_variant MELA-AU 13 36157725 36157725 single base substitution G A intron_variant MELA-AU 13 36157735 36157735 single base substitution G A intron_variant MELA-AU 13 36157886 36157886 single base substitution C T intron_variant MELA-AU 13 36158159 36158159 single base substitution C T missense_variant S180F 539C>T MELA-AU 13 36158159 36158159 single base substitution C T missense_variant S2384F 7151C>T MELA-AU 13 36158159 36158159 single base substitution C T missense_variant S2387F 7160C>T MELA-AU 13 36158454 36158454 single base substitution T A intron_variant MELA-AU 13 36158721 36158721 single base substitution C T intron_variant MELA-AU 13 36158727 36158727 single base substitution C T intron_variant MELA-AU 13 36158747 36158747 single base substitution C T intron_variant MELA-AU 13 36158750 36158750 single base substitution C T intron_variant MELA-AU 13 36158779 36158779 single base substitution G A intron_variant MELA-AU 13 36158790 36158790 single base substitution C T intron_variant MELA-AU 13 36159149 36159149 single base substitution C T intron_variant MELA-AU 13 36159288 36159288 single base substitution C T intron_variant MELA-AU 13 36159304 36159304 single base substitution C T intron_variant MELA-AU 13 36159321 36159321 single base substitution C T intron_variant MELA-AU 13 36159367 36159367 single base substitution C T intron_variant MELA-AU 13 36159555 36159555 single base substitution C T intron_variant MELA-AU 13 36159579 36159579 single base substitution C T intron_variant MELA-AU 13 36159609 36159609 single base substitution C A intron_variant MELA-AU 13 36159783 36159783 single base substitution T G intron_variant MELA-AU 13 36159785 36159785 single base substitution C T intron_variant MELA-AU 13 36159793 36159793 single base substitution C T intron_variant MELA-AU 13 36160090 36160090 single base substitution T C intron_variant MELA-AU 13 36160209 36160209 single base substitution C T intron_variant MELA-AU 13 36160220 36160220 single base substitution G A intron_variant MELA-AU 13 36160563 36160563 single base substitution G A intron_variant MELA-AU 13 36161009 36161009 single base substitution C T intron_variant MELA-AU 13 36161182 36161182 single base substitution G A intron_variant MELA-AU 13 36161193 36161193 single base substitution G A intron_variant MELA-AU 13 36161509 36161509 single base substitution T A intron_variant MELA-AU 13 36161630 36161630 single base substitution T C intron_variant MELA-AU 13 36161651 36161651 single base substitution G A intron_variant MELA-AU 13 36161680 36161680 single base substitution A T intron_variant MELA-AU 13 36161681 36161681 single base substitution A T intron_variant MELA-AU 13 36161980 36161980 single base substitution A T intron_variant MELA-AU 13 36162072 36162072 single base substitution C T intron_variant MELA-AU 13 36162115 36162115 single base substitution A C intron_variant MELA-AU 13 36162452 36162452 single base substitution C T intron_variant MELA-AU 13 36162452 36162452 single base substitution C T upstream_gene_variant MELA-AU 13 36162457 36162457 single base substitution G A intron_variant MELA-AU 13 36162457 36162457 single base substitution G A upstream_gene_variant MELA-AU 13 36162477 36162477 single base substitution C T intron_variant MELA-AU 13 36162477 36162477 single base substitution C T upstream_gene_variant MELA-AU 13 36162683 36162683 single base substitution C T intron_variant MELA-AU 13 36162683 36162683 single base substitution C T upstream_gene_variant MELA-AU 13 36162927 36162927 single base substitution C T intron_variant MELA-AU 13 36162927 36162927 single base substitution C T upstream_gene_variant MELA-AU 13 36162954 36162954 single base substitution C T intron_variant MELA-AU 13 36162954 36162954 single base substitution C T upstream_gene_variant MELA-AU 13 36163253 36163253 single base substitution G A intron_variant MELA-AU 13 36163253 36163253 single base substitution G A upstream_gene_variant MELA-AU 13 36163268 36163268 single base substitution T C intron_variant MELA-AU 13 36163268 36163268 single base substitution T C upstream_gene_variant MELA-AU 13 36163440 36163440 single base substitution G A intron_variant MELA-AU 13 36163440 36163440 single base substitution G A upstream_gene_variant MELA-AU 13 36163461 36163461 single base substitution G A intron_variant MELA-AU 13 36163461 36163461 single base substitution G A upstream_gene_variant MELA-AU 13 36163656 36163656 single base substitution G A intron_variant MELA-AU 13 36163656 36163656 single base substitution G A upstream_gene_variant MELA-AU 13 36163800 36163800 single base substitution G A intron_variant MELA-AU 13 36163800 36163800 single base substitution G A upstream_gene_variant MELA-AU 13 36163841 36163841 single base substitution G A intron_variant MELA-AU 13 36163841 36163841 single base substitution G A upstream_gene_variant MELA-AU 13 36163853 36163853 single base substitution C T intron_variant MELA-AU 13 36163853 36163853 single base substitution C T upstream_gene_variant MELA-AU 13 36163894 36163894 single base substitution G A intron_variant MELA-AU 13 36163894 36163894 single base substitution G A upstream_gene_variant MELA-AU 13 36164263 36164263 single base substitution A G intron_variant MELA-AU 13 36164263 36164263 single base substitution A G upstream_gene_variant MELA-AU 13 36164346 36164346 single base substitution G A intron_variant MELA-AU 13 36164346 36164346 single base substitution G A upstream_gene_variant MELA-AU 13 36164625 36164625 insertion of <=200bp - A intron_variant MELA-AU 13 36164625 36164625 insertion of <=200bp - A upstream_gene_variant MELA-AU 13 36164702 36164702 single base substitution G A intron_variant MELA-AU 13 36164702 36164702 single base substitution G A upstream_gene_variant MELA-AU 13 36164984 36164984 single base substitution C T intron_variant MELA-AU 13 36164984 36164984 single base substitution C T upstream_gene_variant MELA-AU 13 36165011 36165011 single base substitution C T intron_variant MELA-AU 13 36165011 36165011 single base substitution C T upstream_gene_variant MELA-AU 13 36165012 36165012 single base substitution C T intron_variant MELA-AU 13 36165012 36165012 single base substitution C T upstream_gene_variant MELA-AU 13 36165307 36165307 single base substitution G A intron_variant MELA-AU 13 36165307 36165307 single base substitution G A upstream_gene_variant MELA-AU 13 36165369 36165369 single base substitution A T intron_variant MELA-AU 13 36165369 36165369 single base substitution A T upstream_gene_variant MELA-AU 13 36165489 36165489 single base substitution C T intron_variant MELA-AU 13 36165489 36165489 single base substitution C T upstream_gene_variant MELA-AU 13 36165542 36165542 single base substitution G A intron_variant MELA-AU 13 36165542 36165542 single base substitution G A upstream_gene_variant MELA-AU 13 36165563 36165563 single base substitution T C intron_variant MELA-AU 13 36165563 36165563 single base substitution T C upstream_gene_variant MELA-AU 13 36165700 36165700 single base substitution C T intron_variant MELA-AU 13 36165700 36165700 single base substitution C T upstream_gene_variant MELA-AU 13 36165721 36165721 single base substitution C T intron_variant MELA-AU 13 36165721 36165721 single base substitution C T upstream_gene_variant MELA-AU 13 36165874 36165874 single base substitution G T intron_variant MELA-AU 13 36165874 36165874 single base substitution G T upstream_gene_variant MELA-AU 13 36165916 36165916 single base substitution C T intron_variant MELA-AU 13 36165916 36165916 single base substitution C T upstream_gene_variant MELA-AU 13 36165977 36165977 single base substitution T A intron_variant MELA-AU 13 36165977 36165977 single base substitution T A upstream_gene_variant MELA-AU 13 36166092 36166092 single base substitution G A intron_variant MELA-AU 13 36166092 36166092 single base substitution G A upstream_gene_variant MELA-AU 13 36166098 36166098 single base substitution G A intron_variant MELA-AU 13 36166098 36166098 single base substitution G A upstream_gene_variant MELA-AU 13 36166140 36166140 single base substitution C T intron_variant MELA-AU 13 36166140 36166140 single base substitution C T upstream_gene_variant MELA-AU 13 36166214 36166214 single base substitution A G intron_variant MELA-AU 13 36166214 36166214 single base substitution A G upstream_gene_variant MELA-AU 13 36166750 36166750 single base substitution G A intron_variant MELA-AU 13 36166750 36166750 single base substitution G A upstream_gene_variant MELA-AU 13 36166814 36166814 single base substitution G A intron_variant MELA-AU 13 36166814 36166814 single base substitution G A upstream_gene_variant MELA-AU 13 36166873 36166873 single base substitution A T intron_variant MELA-AU 13 36166873 36166873 single base substitution A T upstream_gene_variant MELA-AU 13 36166920 36166920 single base substitution G A intron_variant MELA-AU 13 36166920 36166920 single base substitution G A upstream_gene_variant MELA-AU 13 36167014 36167014 single base substitution C T intron_variant MELA-AU 13 36167014 36167014 single base substitution C T upstream_gene_variant MELA-AU 13 36167149 36167149 single base substitution A G 5_prime_UTR_variant MELA-AU 13 36167149 36167149 single base substitution A G intron_variant MELA-AU 13 36167186 36167186 single base substitution A G 5_prime_UTR_variant MELA-AU 13 36167186 36167186 single base substitution A G intron_variant MELA-AU 13 36167319 36167319 single base substitution C T 5_prime_UTR_variant MELA-AU 13 36167319 36167319 single base substitution C T intron_variant MELA-AU 13 36167473 36167473 single base substitution C T 5_prime_UTR_variant MELA-AU 13 36167473 36167473 single base substitution C T synonymous_variant F188F 564C>T MELA-AU 13 36167473 36167473 single base substitution C T synonymous_variant F2392F 7176C>T MELA-AU 13 36167473 36167473 single base substitution C T synonymous_variant F2395F 7185C>T MELA-AU 13 36167502 36167502 single base substitution G A 5_prime_UTR_variant MELA-AU 13 36167502 36167502 single base substitution G A missense_variant G198E 593G>A MELA-AU 13 36167502 36167502 single base substitution G A missense_variant G2402E 7205G>A MELA-AU 13 36167502 36167502 single base substitution G A missense_variant G2405E 7214G>A MELA-AU 13 36167522 36167522 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 13 36167522 36167522 single base substitution C T stop_gained R205* 613C>T MELA-AU 13 36167522 36167522 single base substitution C T stop_gained R2409* 7225C>T MELA-AU 13 36167522 36167522 single base substitution C T stop_gained R2412* 7234C>T MELA-AU 13 36167535 36167535 single base substitution C T 5_prime_UTR_variant MELA-AU 13 36167535 36167535 single base substitution C T missense_variant S209F 626C>T MELA-AU 13 36167535 36167535 single base substitution C T missense_variant S2413F 7238C>T MELA-AU 13 36167535 36167535 single base substitution C T missense_variant S2416F 7247C>T MELA-AU 13 36167679 36167679 single base substitution A T intron_variant MELA-AU 13 36167810 36167810 single base substitution C T intron_variant MELA-AU 13 36168006 36168007 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 13 36168028 36168028 single base substitution C T intron_variant MELA-AU 13 36168128 36168128 single base substitution G A intron_variant MELA-AU 13 36168177 36168177 single base substitution G A intron_variant MELA-AU 13 36168346 36168346 single base substitution C T intron_variant MELA-AU 13 36168366 36168366 single base substitution C T intron_variant MELA-AU 13 36168523 36168524 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 13 36168569 36168569 single base substitution A T intron_variant MELA-AU 13 36168697 36168697 single base substitution A G intron_variant MELA-AU 13 36168774 36168775 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36168988 36168988 single base substitution C T intron_variant MELA-AU 13 36169303 36169303 single base substitution C T intron_variant MELA-AU 13 36169347 36169347 single base substitution T C intron_variant MELA-AU 13 36169426 36169426 single base substitution G A intron_variant MELA-AU 13 36169702 36169702 single base substitution G A intron_variant MELA-AU 13 36169739 36169739 single base substitution G A intron_variant MELA-AU 13 36170139 36170139 single base substitution A G intron_variant MELA-AU 13 36170209 36170209 single base substitution C T intron_variant MELA-AU 13 36170338 36170338 single base substitution G A intron_variant MELA-AU 13 36170846 36170846 single base substitution C T intron_variant MELA-AU 13 36171014 36171014 single base substitution G A intron_variant MELA-AU 13 36171400 36171400 single base substitution A T intron_variant MELA-AU 13 36171526 36171526 single base substitution C T intron_variant MELA-AU 13 36171716 36171716 single base substitution C T intron_variant MELA-AU 13 36171764 36171764 single base substitution G A intron_variant MELA-AU 13 36172010 36172010 single base substitution C T intron_variant MELA-AU 13 36172814 36172814 single base substitution A T intron_variant MELA-AU 13 36172818 36172818 single base substitution C T intron_variant MELA-AU 13 36172970 36172970 single base substitution C T intron_variant MELA-AU 13 36173243 36173243 single base substitution C T intron_variant MELA-AU 13 36173261 36173261 single base substitution G A intron_variant MELA-AU 13 36173404 36173404 single base substitution G A intron_variant MELA-AU 13 36174213 36174213 single base substitution G A intron_variant MELA-AU 13 36174292 36174292 single base substitution A T intron_variant MELA-AU 13 36174363 36174363 single base substitution G A intron_variant MELA-AU 13 36174405 36174405 single base substitution C T intron_variant MELA-AU 13 36174473 36174473 single base substitution G A intron_variant MELA-AU 13 36174727 36174727 single base substitution A T intron_variant MELA-AU 13 36174924 36174924 single base substitution C T intron_variant MELA-AU 13 36175042 36175042 single base substitution G A intron_variant MELA-AU 13 36175049 36175049 single base substitution C T intron_variant MELA-AU 13 36175098 36175098 single base substitution G A intron_variant MELA-AU 13 36175466 36175466 single base substitution T C intron_variant MELA-AU 13 36175636 36175636 single base substitution C T intron_variant MELA-AU 13 36175699 36175699 single base substitution G A intron_variant MELA-AU 13 36175853 36175853 single base substitution C T intron_variant MELA-AU 13 36175992 36175992 single base substitution G A intron_variant MELA-AU 13 36176519 36176519 single base substitution C T intron_variant MELA-AU 13 36176895 36176895 single base substitution G A intron_variant MELA-AU 13 36176957 36176957 single base substitution C T intron_variant MELA-AU 13 36177048 36177048 single base substitution G A intron_variant MELA-AU 13 36177134 36177134 single base substitution C T intron_variant MELA-AU 13 36177264 36177264 single base substitution C T intron_variant MELA-AU 13 36177318 36177318 single base substitution C T intron_variant MELA-AU 13 36177556 36177556 single base substitution C T intron_variant MELA-AU 13 36177665 36177665 single base substitution G A intron_variant MELA-AU 13 36177865 36177865 single base substitution G A intron_variant MELA-AU 13 36177943 36177943 single base substitution C T intron_variant MELA-AU 13 36178045 36178045 single base substitution C T intron_variant MELA-AU 13 36178282 36178282 single base substitution G A intron_variant MELA-AU 13 36178342 36178342 single base substitution G A intron_variant MELA-AU 13 36178598 36178598 single base substitution C T intron_variant MELA-AU 13 36178897 36178897 single base substitution C T intron_variant MELA-AU 13 36178910 36178910 single base substitution G A intron_variant MELA-AU 13 36178933 36178933 single base substitution C T intron_variant MELA-AU 13 36179044 36179044 single base substitution C T intron_variant MELA-AU 13 36179155 36179155 single base substitution C T intron_variant MELA-AU 13 36179243 36179243 single base substitution G T intron_variant MELA-AU 13 36179244 36179244 single base substitution G A intron_variant MELA-AU 13 36179255 36179255 single base substitution G A intron_variant MELA-AU 13 36179323 36179323 single base substitution T A intron_variant MELA-AU 13 36179631 36179631 single base substitution C T intron_variant MELA-AU 13 36179802 36179802 single base substitution C T intron_variant MELA-AU 13 36179875 36179875 single base substitution C T intron_variant MELA-AU 13 36180079 36180079 single base substitution T C intron_variant MELA-AU 13 36180088 36180088 single base substitution C T intron_variant MELA-AU 13 36180137 36180137 single base substitution G A intron_variant MELA-AU 13 36180215 36180215 single base substitution G A intron_variant MELA-AU 13 36180368 36180368 single base substitution G A intron_variant MELA-AU 13 36180376 36180376 single base substitution C T intron_variant MELA-AU 13 36180385 36180385 single base substitution T C intron_variant MELA-AU 13 36180563 36180563 single base substitution G A missense_variant E226K 676G>A MELA-AU 13 36180563 36180563 single base substitution G A missense_variant E2430K 7288G>A MELA-AU 13 36180563 36180563 single base substitution G A missense_variant E2433K 7297G>A MELA-AU 13 36180563 36180563 single base substitution G A splice_region_variant MELA-AU 13 36180655 36180655 single base substitution T G missense_variant N20K 60T>G MELA-AU 13 36180655 36180655 single base substitution T G missense_variant N2460K 7380T>G MELA-AU 13 36180655 36180655 single base substitution T G missense_variant N2463K 7389T>G MELA-AU 13 36180655 36180655 single base substitution T G missense_variant N256K 768T>G MELA-AU 13 36180754 36180754 single base substitution G A intron_variant MELA-AU 13 36180851 36180851 single base substitution G A intron_variant MELA-AU 13 36180963 36180963 single base substitution G A intron_variant MELA-AU 13 36181671 36181671 single base substitution C T intron_variant MELA-AU 13 36181703 36181703 single base substitution C T intron_variant MELA-AU 13 36181828 36181828 single base substitution C T intron_variant MELA-AU 13 36181986 36181986 single base substitution C T intron_variant MELA-AU 13 36182162 36182162 single base substitution T A intron_variant MELA-AU 13 36182164 36182164 single base substitution C T intron_variant MELA-AU 13 36182260 36182260 single base substitution G C intron_variant MELA-AU 13 36182349 36182349 single base substitution C T intron_variant MELA-AU 13 36182441 36182441 single base substitution C T intron_variant MELA-AU 13 36182586 36182586 single base substitution T C intron_variant MELA-AU 13 36182689 36182689 single base substitution G A intron_variant MELA-AU 13 36182720 36182720 single base substitution G A intron_variant MELA-AU 13 36182828 36182828 single base substitution C T intron_variant MELA-AU 13 36182904 36182904 single base substitution C T intron_variant MELA-AU 13 36182939 36182939 single base substitution C A intron_variant MELA-AU 13 36182990 36182990 single base substitution G A intron_variant MELA-AU 13 36183121 36183121 single base substitution G A intron_variant MELA-AU 13 36183415 36183415 single base substitution C T intron_variant MELA-AU 13 36183574 36183574 single base substitution C T intron_variant MELA-AU 13 36183595 36183595 single base substitution G A intron_variant MELA-AU 13 36183625 36183625 single base substitution G A intron_variant MELA-AU 13 36183653 36183653 single base substitution A G intron_variant MELA-AU 13 36183836 36183836 single base substitution C T intron_variant MELA-AU 13 36183891 36183891 single base substitution G A intron_variant MELA-AU 13 36183914 36183914 single base substitution T C intron_variant MELA-AU 13 36183950 36183950 single base substitution C T intron_variant MELA-AU 13 36183955 36183955 single base substitution G T intron_variant MELA-AU 13 36184004 36184004 single base substitution G C intron_variant MELA-AU 13 36184125 36184125 single base substitution C T intron_variant MELA-AU 13 36184180 36184180 single base substitution C T intron_variant MELA-AU 13 36184235 36184235 single base substitution C T intron_variant MELA-AU 13 36184388 36184388 single base substitution G A intron_variant MELA-AU 13 36184425 36184425 single base substitution G A intron_variant MELA-AU 13 36184451 36184451 single base substitution G A intron_variant MELA-AU 13 36184456 36184457 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36184617 36184617 single base substitution T C intron_variant MELA-AU 13 36184660 36184660 single base substitution C T intron_variant MELA-AU 13 36184701 36184701 single base substitution C T intron_variant MELA-AU 13 36184744 36184744 single base substitution G A intron_variant MELA-AU 13 36184774 36184774 single base substitution T C intron_variant MELA-AU 13 36184908 36184908 single base substitution G C intron_variant MELA-AU 13 36184940 36184940 single base substitution G A intron_variant MELA-AU 13 36185213 36185213 single base substitution C T intron_variant MELA-AU 13 36185242 36185242 single base substitution C T intron_variant MELA-AU 13 36185722 36185722 single base substitution C T intron_variant MELA-AU 13 36185765 36185765 single base substitution G A intron_variant MELA-AU 13 36186023 36186023 single base substitution C T intron_variant MELA-AU 13 36186526 36186526 single base substitution C T intron_variant MELA-AU 13 36186602 36186602 single base substitution G A intron_variant MELA-AU 13 36186731 36186731 single base substitution C T intron_variant MELA-AU 13 36186767 36186767 single base substitution G A intron_variant MELA-AU 13 36186822 36186822 single base substitution C T intron_variant MELA-AU 13 36186971 36186971 single base substitution C G intron_variant MELA-AU 13 36187237 36187237 single base substitution T C intron_variant MELA-AU 13 36187326 36187326 single base substitution C T intron_variant MELA-AU 13 36187445 36187445 single base substitution C T intron_variant MELA-AU 13 36187477 36187477 single base substitution C T intron_variant MELA-AU 13 36187609 36187609 single base substitution C T intron_variant MELA-AU 13 36187627 36187627 single base substitution G A intron_variant MELA-AU 13 36187800 36187800 single base substitution C T intron_variant MELA-AU 13 36188075 36188075 single base substitution C T intron_variant MELA-AU 13 36188310 36188310 single base substitution C T intron_variant MELA-AU 13 36188341 36188341 single base substitution C T intron_variant MELA-AU 13 36188342 36188342 single base substitution C T intron_variant MELA-AU 13 36188379 36188379 single base substitution C T intron_variant MELA-AU 13 36188425 36188425 single base substitution G A intron_variant MELA-AU 13 36188436 36188436 single base substitution C T intron_variant MELA-AU 13 36188560 36188560 single base substitution C T intron_variant MELA-AU 13 36188610 36188610 single base substitution C T intron_variant MELA-AU 13 36188985 36188985 single base substitution G A intron_variant MELA-AU 13 36189059 36189059 single base substitution G A intron_variant MELA-AU 13 36189065 36189065 single base substitution C T intron_variant MELA-AU 13 36189172 36189172 single base substitution C T intron_variant MELA-AU 13 36189796 36189796 single base substitution T A intron_variant MELA-AU 13 36189924 36189924 single base substitution C T intron_variant MELA-AU 13 36189972 36189972 single base substitution C T intron_variant MELA-AU 13 36190020 36190020 single base substitution C T intron_variant MELA-AU 13 36190064 36190064 single base substitution C T intron_variant MELA-AU 13 36190331 36190331 single base substitution T C intron_variant MELA-AU 13 36190593 36190593 single base substitution C T intron_variant MELA-AU 13 36190797 36190797 single base substitution C T intron_variant MELA-AU 13 36190812 36190812 single base substitution A G intron_variant MELA-AU 13 36191121 36191121 single base substitution G C intron_variant MELA-AU 13 36191357 36191357 single base substitution C T intron_variant MELA-AU 13 36191458 36191458 single base substitution G A intron_variant MELA-AU 13 36191835 36191835 single base substitution C T intron_variant MELA-AU 13 36191912 36191912 single base substitution C T intron_variant MELA-AU 13 36192079 36192079 single base substitution C T intron_variant MELA-AU 13 36192083 36192083 single base substitution A G intron_variant MELA-AU 13 36192092 36192092 single base substitution G A intron_variant MELA-AU 13 36192444 36192444 single base substitution G T intron_variant MELA-AU 13 36192567 36192567 single base substitution A G intron_variant MELA-AU 13 36192934 36192934 single base substitution T C intron_variant MELA-AU 13 36192939 36192939 single base substitution C A intron_variant MELA-AU 13 36192980 36192980 single base substitution G A intron_variant MELA-AU 13 36193001 36193001 single base substitution G A intron_variant MELA-AU 13 36193146 36193146 single base substitution T C intron_variant MELA-AU 13 36193180 36193180 single base substitution C T intron_variant MELA-AU 13 36193270 36193270 single base substitution C A intron_variant MELA-AU 13 36193284 36193284 single base substitution A G intron_variant MELA-AU 13 36193410 36193410 single base substitution C T intron_variant MELA-AU 13 36193431 36193431 single base substitution G A intron_variant MELA-AU 13 36193439 36193439 single base substitution G A intron_variant MELA-AU 13 36193694 36193694 single base substitution C T intron_variant MELA-AU 13 36193703 36193703 single base substitution C T intron_variant MELA-AU 13 36193796 36193796 single base substitution C T intron_variant MELA-AU 13 36193841 36193841 single base substitution G A intron_variant MELA-AU 13 36193946 36193946 single base substitution C T intron_variant MELA-AU 13 36194110 36194110 single base substitution C T intron_variant MELA-AU 13 36194249 36194249 single base substitution G A intron_variant MELA-AU 13 36194329 36194329 single base substitution G A intron_variant MELA-AU 13 36194563 36194563 single base substitution G A intron_variant MELA-AU 13 36194636 36194636 single base substitution G A intron_variant MELA-AU 13 36194659 36194659 single base substitution G A intron_variant MELA-AU 13 36194838 36194838 single base substitution G A intron_variant MELA-AU 13 36194840 36194840 single base substitution G A intron_variant MELA-AU 13 36194981 36194981 single base substitution C T intron_variant MELA-AU 13 36195025 36195025 single base substitution G A intron_variant MELA-AU 13 36195305 36195305 single base substitution G A intron_variant MELA-AU 13 36195430 36195430 single base substitution G A intron_variant MELA-AU 13 36195500 36195500 single base substitution C T intron_variant MELA-AU 13 36195514 36195514 single base substitution G A intron_variant MELA-AU 13 36195689 36195689 single base substitution C T intron_variant MELA-AU 13 36195854 36195854 single base substitution C T intron_variant MELA-AU 13 36195864 36195864 single base substitution T A intron_variant MELA-AU 13 36195997 36195997 single base substitution C T intron_variant MELA-AU 13 36196071 36196071 single base substitution C T intron_variant MELA-AU 13 36196885 36196885 single base substitution G A intron_variant MELA-AU 13 36196894 36196894 single base substitution G A intron_variant MELA-AU 13 36196966 36196966 single base substitution G A intron_variant MELA-AU 13 36197027 36197027 single base substitution C T intron_variant MELA-AU 13 36197203 36197203 single base substitution G A intron_variant MELA-AU 13 36197948 36197948 single base substitution C T intron_variant MELA-AU 13 36197994 36197994 single base substitution G A intron_variant MELA-AU 13 36198081 36198081 single base substitution G A intron_variant MELA-AU 13 36198109 36198109 single base substitution C T intron_variant MELA-AU 13 36198146 36198146 single base substitution C T intron_variant MELA-AU 13 36198416 36198416 single base substitution C T intron_variant MELA-AU 13 36198891 36198891 single base substitution G A intron_variant MELA-AU 13 36199156 36199156 single base substitution T A intron_variant MELA-AU 13 36199240 36199240 single base substitution G A intron_variant MELA-AU 13 36199586 36199586 single base substitution C T intron_variant MELA-AU 13 36199673 36199673 single base substitution G A intron_variant MELA-AU 13 36199695 36199695 single base substitution G A intron_variant MELA-AU 13 36199726 36199726 single base substitution C T intron_variant MELA-AU 13 36199738 36199738 single base substitution G A intron_variant MELA-AU 13 36199754 36199754 single base substitution C T intron_variant MELA-AU 13 36199850 36199850 single base substitution G A intron_variant MELA-AU 13 36200045 36200045 single base substitution G A intron_variant MELA-AU 13 36200706 36200706 single base substitution G A intron_variant MELA-AU 13 36200732 36200732 single base substitution G A intron_variant MELA-AU 13 36201078 36201078 single base substitution A T intron_variant MELA-AU 13 36201198 36201198 single base substitution G A intron_variant MELA-AU 13 36201405 36201405 single base substitution C T intron_variant MELA-AU 13 36201461 36201461 single base substitution G A intron_variant MELA-AU 13 36201667 36201667 single base substitution C T intron_variant MELA-AU 13 36201686 36201686 single base substitution C T intron_variant MELA-AU 13 36201795 36201795 single base substitution G A intron_variant MELA-AU 13 36201997 36201997 single base substitution C T intron_variant MELA-AU 13 36202427 36202427 single base substitution C T intron_variant MELA-AU 13 36202681 36202681 single base substitution G A intron_variant MELA-AU 13 36202860 36202860 single base substitution G A intron_variant MELA-AU 13 36202882 36202882 single base substitution C T intron_variant MELA-AU 13 36202883 36202883 single base substitution C T intron_variant MELA-AU 13 36203081 36203081 single base substitution G A intron_variant MELA-AU 13 36203387 36203387 single base substitution C T intron_variant MELA-AU 13 36203594 36203594 single base substitution G A intron_variant MELA-AU 13 36203717 36203717 single base substitution C T intron_variant MELA-AU 13 36203798 36203798 single base substitution G A intron_variant MELA-AU 13 36204154 36204154 single base substitution C T intron_variant MELA-AU 13 36204323 36204323 single base substitution G A intron_variant MELA-AU 13 36204360 36204360 single base substitution G A intron_variant MELA-AU 13 36204368 36204368 single base substitution C T intron_variant MELA-AU 13 36205229 36205229 single base substitution C A intron_variant MELA-AU 13 36205633 36205633 single base substitution C T intron_variant MELA-AU 13 36205659 36205659 single base substitution A T intron_variant MELA-AU 13 36205704 36205704 single base substitution C T intron_variant MELA-AU 13 36205891 36205891 single base substitution G A intron_variant MELA-AU 13 36206270 36206270 single base substitution C T intron_variant MELA-AU 13 36206642 36206642 single base substitution C T intron_variant MELA-AU 13 36206719 36206719 single base substitution C T intron_variant MELA-AU 13 36207094 36207094 single base substitution C T intron_variant MELA-AU 13 36207185 36207185 single base substitution C T intron_variant MELA-AU 13 36207354 36207354 single base substitution C T intron_variant MELA-AU 13 36207605 36207605 single base substitution C T intron_variant MELA-AU 13 36207685 36207685 single base substitution G A intron_variant MELA-AU 13 36207843 36207843 single base substitution G A intron_variant MELA-AU 13 36207995 36207995 single base substitution G A intron_variant MELA-AU 13 36208058 36208058 single base substitution T C intron_variant MELA-AU 13 36208217 36208217 single base substitution C T intron_variant MELA-AU 13 36208362 36208362 single base substitution C T intron_variant MELA-AU 13 36208449 36208449 single base substitution C T intron_variant MELA-AU 13 36208958 36208958 single base substitution C T intron_variant MELA-AU 13 36209015 36209015 single base substitution G A intron_variant MELA-AU 13 36209107 36209107 single base substitution G A intron_variant MELA-AU 13 36209155 36209155 single base substitution G A intron_variant MELA-AU 13 36209183 36209183 single base substitution G A intron_variant MELA-AU 13 36209342 36209342 single base substitution C T intron_variant MELA-AU 13 36209395 36209395 single base substitution G A intron_variant MELA-AU 13 36209492 36209492 single base substitution G A intron_variant MELA-AU 13 36209567 36209567 single base substitution G A intron_variant MELA-AU 13 36209663 36209663 single base substitution G A intron_variant MELA-AU 13 36209670 36209670 single base substitution C T intron_variant MELA-AU 13 36209729 36209729 single base substitution C T intron_variant MELA-AU 13 36209894 36209894 single base substitution G A intron_variant MELA-AU 13 36210245 36210245 single base substitution C T intron_variant MELA-AU 13 36210879 36210879 single base substitution G A intron_variant MELA-AU 13 36210898 36210898 single base substitution C T intron_variant MELA-AU 13 36210988 36210988 single base substitution C T intron_variant MELA-AU 13 36211709 36211709 single base substitution C T intron_variant MELA-AU 13 36211786 36211786 single base substitution C T intron_variant MELA-AU 13 36211999 36211999 single base substitution C T intron_variant MELA-AU 13 36212198 36212198 single base substitution G A intron_variant MELA-AU 13 36212224 36212224 single base substitution G A intron_variant MELA-AU 13 36212518 36212518 single base substitution G A intron_variant MELA-AU 13 36212609 36212609 single base substitution G A intron_variant MELA-AU 13 36212637 36212637 single base substitution C T intron_variant MELA-AU 13 36212755 36212755 single base substitution C T intron_variant MELA-AU 13 36212999 36212999 single base substitution A T intron_variant MELA-AU 13 36213052 36213052 single base substitution G A intron_variant MELA-AU 13 36213060 36213060 single base substitution G A intron_variant MELA-AU 13 36213143 36213143 single base substitution G A intron_variant MELA-AU 13 36213303 36213303 single base substitution G A intron_variant MELA-AU 13 36213338 36213338 single base substitution G A intron_variant MELA-AU 13 36213356 36213356 single base substitution G A intron_variant MELA-AU 13 36213440 36213440 single base substitution T C intron_variant MELA-AU 13 36213572 36213572 single base substitution C T intron_variant MELA-AU 13 36213613 36213613 single base substitution C T intron_variant MELA-AU 13 36213735 36213735 single base substitution G A intron_variant MELA-AU 13 36214257 36214257 single base substitution T C intron_variant MELA-AU 13 36214337 36214337 single base substitution C T intron_variant MELA-AU 13 36214357 36214357 single base substitution C T intron_variant MELA-AU 13 36214408 36214408 single base substitution G A intron_variant MELA-AU 13 36214454 36214454 single base substitution G A intron_variant MELA-AU 13 36214706 36214706 single base substitution C A intron_variant MELA-AU 13 36214937 36214937 single base substitution G A intron_variant MELA-AU 13 36215029 36215029 single base substitution C T intron_variant MELA-AU 13 36215057 36215057 single base substitution C T intron_variant MELA-AU 13 36215218 36215218 single base substitution G A intron_variant MELA-AU 13 36215390 36215390 single base substitution C T intron_variant MELA-AU 13 36215437 36215437 single base substitution C T intron_variant MELA-AU 13 36215462 36215462 single base substitution G A intron_variant MELA-AU 13 36215649 36215649 single base substitution G A intron_variant MELA-AU 13 36215745 36215745 single base substitution C T intron_variant MELA-AU 13 36215819 36215819 single base substitution G A intron_variant MELA-AU 13 36215845 36215845 single base substitution G A intron_variant MELA-AU 13 36216052 36216052 single base substitution G A intron_variant MELA-AU 13 36216106 36216106 single base substitution G A intron_variant MELA-AU 13 36216842 36216842 single base substitution C T intron_variant MELA-AU 13 36217201 36217201 single base substitution G A intron_variant MELA-AU 13 36217295 36217295 single base substitution T C intron_variant MELA-AU 13 36217401 36217401 single base substitution C T intron_variant MELA-AU 13 36217420 36217420 single base substitution G A intron_variant MELA-AU 13 36217437 36217437 single base substitution C T intron_variant MELA-AU 13 36217760 36217760 single base substitution A T intron_variant MELA-AU 13 36218079 36218079 single base substitution G A intron_variant MELA-AU 13 36218097 36218097 single base substitution G A intron_variant MELA-AU 13 36218424 36218424 single base substitution G A intron_variant MELA-AU 13 36218725 36218725 single base substitution C T intron_variant MELA-AU 13 36219401 36219401 single base substitution G A intron_variant MELA-AU 13 36219432 36219432 single base substitution C T intron_variant MELA-AU 13 36219451 36219451 single base substitution C T intron_variant MELA-AU 13 36219649 36219649 single base substitution C G intron_variant MELA-AU 13 36219649 36219649 single base substitution C T intron_variant MELA-AU 13 36220009 36220009 single base substitution C T intron_variant MELA-AU 13 36220009 36220009 single base substitution C T missense_variant P98S 292C>T MELA-AU 13 36220044 36220044 single base substitution C T intron_variant MELA-AU 13 36220044 36220044 single base substitution C T synonymous_variant F109F 327C>T MELA-AU 13 36220383 36220383 single base substitution C T intron_variant MELA-AU 13 36220384 36220384 single base substitution C T intron_variant MELA-AU 13 36220639 36220639 single base substitution G A intron_variant MELA-AU 13 36220852 36220852 single base substitution C T intron_variant MELA-AU 13 36220969 36220969 single base substitution G A intron_variant MELA-AU 13 36221051 36221051 single base substitution C T intron_variant MELA-AU 13 36221246 36221246 single base substitution G A intron_variant MELA-AU 13 36221264 36221264 single base substitution C T intron_variant MELA-AU 13 36221419 36221419 single base substitution G A intron_variant MELA-AU 13 36221481 36221481 single base substitution G A intron_variant MELA-AU 13 36221484 36221484 single base substitution C T intron_variant MELA-AU 13 36221487 36221487 single base substitution G A intron_variant MELA-AU 13 36221601 36221601 single base substitution T A intron_variant MELA-AU 13 36221838 36221838 single base substitution G A intron_variant MELA-AU 13 36222116 36222116 single base substitution G A intron_variant MELA-AU 13 36222206 36222206 single base substitution G A intron_variant MELA-AU 13 36222556 36222556 single base substitution C T intron_variant MELA-AU 13 36222575 36222575 single base substitution G A intron_variant MELA-AU 13 36222592 36222592 single base substitution G A intron_variant MELA-AU 13 36222595 36222595 single base substitution T C intron_variant MELA-AU 13 36222598 36222598 single base substitution T C intron_variant MELA-AU 13 36222602 36222602 single base substitution C T intron_variant MELA-AU 13 36222678 36222678 single base substitution C G intron_variant MELA-AU 13 36222768 36222768 single base substitution C T intron_variant MELA-AU 13 36223209 36223210 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36223409 36223409 single base substitution G A intron_variant MELA-AU 13 36223601 36223601 single base substitution C T intron_variant MELA-AU 13 36223608 36223608 single base substitution C T intron_variant MELA-AU 13 36223680 36223680 single base substitution C T intron_variant MELA-AU 13 36224149 36224149 single base substitution C T intron_variant MELA-AU 13 36224177 36224177 single base substitution C T intron_variant MELA-AU 13 36224190 36224190 single base substitution G A intron_variant MELA-AU 13 36224324 36224324 single base substitution G A intron_variant MELA-AU 13 36224631 36224631 single base substitution G A intron_variant MELA-AU 13 36224667 36224667 single base substitution C T intron_variant MELA-AU 13 36224721 36224721 single base substitution C T intron_variant MELA-AU 13 36224733 36224733 single base substitution G A intron_variant MELA-AU 13 36224881 36224881 single base substitution G A intron_variant MELA-AU 13 36224903 36224903 single base substitution G A intron_variant MELA-AU 13 36224942 36224942 single base substitution G A intron_variant MELA-AU 13 36224944 36224944 single base substitution G A intron_variant MELA-AU 13 36225049 36225049 single base substitution A T intron_variant MELA-AU 13 36225085 36225085 single base substitution G A intron_variant MELA-AU 13 36225184 36225184 single base substitution G A intron_variant MELA-AU 13 36225211 36225211 single base substitution G A intron_variant MELA-AU 13 36225281 36225281 single base substitution G A intron_variant MELA-AU 13 36225314 36225314 deletion of <=200bp A - intron_variant MELA-AU 13 36225437 36225437 single base substitution G A intron_variant MELA-AU 13 36225472 36225472 single base substitution C T intron_variant MELA-AU 13 36225612 36225612 single base substitution T A intron_variant MELA-AU 13 36225653 36225653 single base substitution T C intron_variant MELA-AU 13 36225707 36225707 single base substitution A C intron_variant MELA-AU 13 36225745 36225745 single base substitution C T intron_variant MELA-AU 13 36225921 36225921 single base substitution C T intron_variant MELA-AU 13 36225925 36225925 single base substitution C T intron_variant MELA-AU 13 36225951 36225951 single base substitution G A missense_variant G215E 644G>A MELA-AU 13 36225951 36225951 single base substitution G A missense_variant G2634E 7901G>A MELA-AU 13 36225951 36225951 single base substitution G A missense_variant G2637E 7910G>A MELA-AU 13 36225951 36225951 single base substitution G A missense_variant G430E 1289G>A MELA-AU 13 36226000 36226000 single base substitution G A missense_variant M231I 693G>A MELA-AU 13 36226000 36226000 single base substitution G A missense_variant M2650I 7950G>A MELA-AU 13 36226000 36226000 single base substitution G A missense_variant M2653I 7959G>A MELA-AU 13 36226000 36226000 single base substitution G A missense_variant M446I 1338G>A MELA-AU 13 36226005 36226005 single base substitution C T missense_variant P233L 698C>T MELA-AU 13 36226005 36226005 single base substitution C T missense_variant P2652L 7955C>T MELA-AU 13 36226005 36226005 single base substitution C T missense_variant P2655L 7964C>T MELA-AU 13 36226005 36226005 single base substitution C T missense_variant P448L 1343C>T MELA-AU 13 36226045 36226045 single base substitution G A intron_variant MELA-AU 13 36226054 36226054 single base substitution C T intron_variant MELA-AU 13 36226062 36226062 single base substitution C T intron_variant MELA-AU 13 36226142 36226142 single base substitution C T intron_variant MELA-AU 13 36226193 36226193 single base substitution T G intron_variant MELA-AU 13 36226348 36226348 single base substitution G A intron_variant MELA-AU 13 36226604 36226604 single base substitution C T intron_variant MELA-AU 13 36226629 36226629 single base substitution T A intron_variant MELA-AU 13 36226705 36226705 single base substitution G A intron_variant MELA-AU 13 36226725 36226725 single base substitution C T intron_variant MELA-AU 13 36227005 36227005 single base substitution G A intron_variant MELA-AU 13 36227044 36227044 single base substitution G A intron_variant MELA-AU 13 36227048 36227048 single base substitution G A intron_variant MELA-AU 13 36227053 36227053 single base substitution G A intron_variant MELA-AU 13 36227066 36227066 single base substitution C T intron_variant MELA-AU 13 36227257 36227257 single base substitution C T intron_variant MELA-AU 13 36227319 36227319 single base substitution G A intron_variant MELA-AU 13 36227320 36227320 single base substitution G A intron_variant MELA-AU 13 36227687 36227687 single base substitution C T intron_variant MELA-AU 13 36227688 36227688 single base substitution G A intron_variant MELA-AU 13 36227789 36227789 single base substitution C T intron_variant MELA-AU 13 36227907 36227907 single base substitution G A intron_variant MELA-AU 13 36227990 36227990 single base substitution A T intron_variant MELA-AU 13 36228346 36228346 single base substitution C T intron_variant MELA-AU 13 36228402 36228402 single base substitution T A intron_variant MELA-AU 13 36228406 36228406 single base substitution C T intron_variant MELA-AU 13 36228415 36228415 single base substitution C T intron_variant MELA-AU 13 36228495 36228495 single base substitution G A intron_variant MELA-AU 13 36228550 36228550 single base substitution G A intron_variant MELA-AU 13 36228615 36228615 single base substitution A G intron_variant MELA-AU 13 36229023 36229023 single base substitution C T synonymous_variant I246I 738C>T MELA-AU 13 36229023 36229023 single base substitution C T synonymous_variant I2665I 7995C>T MELA-AU 13 36229023 36229023 single base substitution C T synonymous_variant I2668I 8004C>T MELA-AU 13 36229023 36229023 single base substitution C T synonymous_variant I461I 1383C>T MELA-AU 13 36229048 36229048 single base substitution C T stop_gained Q255* 763C>T MELA-AU 13 36229048 36229048 single base substitution C T stop_gained Q2674* 8020C>T MELA-AU 13 36229048 36229048 single base substitution C T stop_gained Q2677* 8029C>T MELA-AU 13 36229048 36229048 single base substitution C T stop_gained Q470* 1408C>T MELA-AU 13 36229200 36229200 single base substitution C T intron_variant MELA-AU 13 36229214 36229214 single base substitution G A intron_variant MELA-AU 13 36229283 36229283 single base substitution C T intron_variant MELA-AU 13 36229388 36229388 single base substitution C T intron_variant MELA-AU 13 36229405 36229406 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 36229414 36229414 single base substitution C T intron_variant MELA-AU 13 36229440 36229440 single base substitution G A intron_variant MELA-AU 13 36229449 36229449 single base substitution C T intron_variant MELA-AU 13 36229538 36229538 single base substitution C T intron_variant MELA-AU 13 36229632 36229632 single base substitution T A intron_variant MELA-AU 13 36229636 36229636 single base substitution A T intron_variant MELA-AU 13 36229825 36229825 single base substitution C T synonymous_variant A2743A 8229C>T MELA-AU 13 36229825 36229825 single base substitution C T synonymous_variant A2746A 8238C>T MELA-AU 13 36229825 36229825 single base substitution C T synonymous_variant A324A 972C>T MELA-AU 13 36229825 36229825 single base substitution C T synonymous_variant A539A 1617C>T MELA-AU 13 36230055 36230055 single base substitution G A intron_variant MELA-AU 13 36230153 36230153 single base substitution C T intron_variant MELA-AU 13 36230356 36230356 single base substitution C T intron_variant MELA-AU 13 36230436 36230436 single base substitution C T intron_variant MELA-AU 13 36231007 36231007 single base substitution A G intron_variant MELA-AU 13 36231131 36231131 single base substitution G A intron_variant MELA-AU 13 36231655 36231655 single base substitution C T intron_variant MELA-AU 13 36231699 36231699 single base substitution A C intron_variant MELA-AU 13 36231799 36231799 single base substitution C T intron_variant MELA-AU 13 36231984 36231984 single base substitution A T intron_variant MELA-AU 13 36232186 36232186 single base substitution G A intron_variant MELA-AU 13 36232548 36232548 single base substitution G A intron_variant MELA-AU 13 36232648 36232648 single base substitution G C intron_variant MELA-AU 13 36233172 36233172 single base substitution C T intron_variant MELA-AU 13 36233226 36233226 single base substitution G A intron_variant MELA-AU 13 36233240 36233240 single base substitution G A intron_variant MELA-AU 13 36233332 36233332 single base substitution G A intron_variant MELA-AU 13 36233445 36233445 single base substitution C T intron_variant MELA-AU 13 36233734 36233734 single base substitution G A intron_variant MELA-AU 13 36233794 36233794 single base substitution C T intron_variant MELA-AU 13 36233941 36233941 single base substitution C T intron_variant MELA-AU 13 36233967 36233967 single base substitution G A intron_variant MELA-AU 13 36233991 36233991 single base substitution C T intron_variant MELA-AU 13 36234063 36234063 single base substitution G A intron_variant MELA-AU 13 36234167 36234167 single base substitution C T intron_variant MELA-AU 13 36234244 36234245 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36234249 36234249 single base substitution C T intron_variant MELA-AU 13 36234267 36234267 single base substitution C T intron_variant MELA-AU 13 36234402 36234402 single base substitution C T intron_variant MELA-AU 13 36234439 36234439 single base substitution A G intron_variant MELA-AU 13 36234631 36234631 single base substitution C T intron_variant MELA-AU 13 36234639 36234639 single base substitution G A intron_variant MELA-AU 13 36234794 36234794 single base substitution C T intron_variant MELA-AU 13 36234971 36234971 single base substitution G A intron_variant MELA-AU 13 36235093 36235093 single base substitution G A intron_variant MELA-AU 13 36235245 36235245 single base substitution G A intron_variant MELA-AU 13 36235316 36235316 single base substitution G A intron_variant MELA-AU 13 36235462 36235462 single base substitution G A intron_variant MELA-AU 13 36235505 36235505 single base substitution G A intron_variant MELA-AU 13 36235534 36235534 single base substitution G A intron_variant MELA-AU 13 36235657 36235657 single base substitution A G intron_variant MELA-AU 13 36235698 36235698 single base substitution G A intron_variant MELA-AU 13 36235899 36235899 single base substitution C T intron_variant MELA-AU 13 36235929 36235929 single base substitution C T intron_variant MELA-AU 13 36236075 36236075 single base substitution C T intron_variant MELA-AU 13 36236457 36236457 single base substitution G A intron_variant MELA-AU 13 36236541 36236541 single base substitution C T intron_variant MELA-AU 13 36236624 36236624 single base substitution G A intron_variant MELA-AU 13 36236667 36236667 single base substitution C T intron_variant MELA-AU 13 36236753 36236753 single base substitution C T intron_variant MELA-AU 13 36236793 36236793 single base substitution G A intron_variant MELA-AU 13 36236798 36236798 single base substitution C T intron_variant MELA-AU 13 36236819 36236819 single base substitution T C intron_variant MELA-AU 13 36236893 36236893 single base substitution G A intron_variant MELA-AU 13 36236934 36236934 single base substitution G A intron_variant MELA-AU 13 36237084 36237084 single base substitution G A intron_variant MELA-AU 13 36237309 36237309 single base substitution C T intron_variant MELA-AU 13 36237611 36237611 single base substitution C T intron_variant MELA-AU 13 36238094 36238094 single base substitution G A intron_variant MELA-AU 13 36238141 36238141 single base substitution G A intron_variant MELA-AU 13 36238216 36238216 single base substitution C T intron_variant MELA-AU 13 36238260 36238260 single base substitution G A intron_variant MELA-AU 13 36238415 36238415 single base substitution G A intron_variant MELA-AU 13 36238415 36238415 single base substitution G T intron_variant MELA-AU 13 36238469 36238469 single base substitution G A intron_variant MELA-AU 13 36238487 36238487 single base substitution C T intron_variant MELA-AU 13 36238621 36238621 single base substitution G A intron_variant MELA-AU 13 36238704 36238704 single base substitution T C intron_variant MELA-AU 13 36238916 36238916 single base substitution G A intron_variant MELA-AU 13 36238945 36238945 single base substitution G A intron_variant MELA-AU 13 36238973 36238973 single base substitution C T intron_variant MELA-AU 13 36239176 36239176 single base substitution C T intron_variant MELA-AU 13 36239240 36239240 single base substitution G A missense_variant R2770K 8309G>A MELA-AU 13 36239240 36239240 single base substitution G A missense_variant R2773K 8318G>A MELA-AU 13 36239240 36239240 single base substitution G A missense_variant R351K 1052G>A MELA-AU 13 36239240 36239240 single base substitution G A missense_variant R566K 1697G>A MELA-AU 13 36239254 36239254 single base substitution G A missense_variant G2775S 8323G>A MELA-AU 13 36239254 36239254 single base substitution G A missense_variant G2778S 8332G>A MELA-AU 13 36239254 36239254 single base substitution G A missense_variant G356S 1066G>A MELA-AU 13 36239254 36239254 single base substitution G A missense_variant G571S 1711G>A MELA-AU 13 36239262 36239262 single base substitution C T synonymous_variant D2777D 8331C>T MELA-AU 13 36239262 36239262 single base substitution C T synonymous_variant D2780D 8340C>T MELA-AU 13 36239262 36239262 single base substitution C T synonymous_variant D358D 1074C>T MELA-AU 13 36239262 36239262 single base substitution C T synonymous_variant D573D 1719C>T MELA-AU 13 36239620 36239620 single base substitution C T intron_variant MELA-AU 13 36239718 36239718 single base substitution T A intron_variant MELA-AU 13 36239848 36239848 single base substitution C T intron_variant MELA-AU 13 36240194 36240194 single base substitution G T intron_variant MELA-AU 13 36240194 36240194 single base substitution G T upstream_gene_variant MELA-AU 13 36240234 36240234 single base substitution C T intron_variant MELA-AU 13 36240234 36240234 single base substitution C T upstream_gene_variant MELA-AU 13 36240246 36240246 single base substitution G A intron_variant MELA-AU 13 36240246 36240246 single base substitution G A upstream_gene_variant MELA-AU 13 36240263 36240263 single base substitution G A intron_variant MELA-AU 13 36240263 36240263 single base substitution G A upstream_gene_variant MELA-AU 13 36240370 36240370 single base substitution T C intron_variant MELA-AU 13 36240370 36240370 single base substitution T C upstream_gene_variant MELA-AU 13 36240398 36240398 single base substitution G A intron_variant MELA-AU 13 36240398 36240398 single base substitution G A upstream_gene_variant MELA-AU 13 36240606 36240606 single base substitution T A intron_variant MELA-AU 13 36240606 36240606 single base substitution T A upstream_gene_variant MELA-AU 13 36240617 36240617 single base substitution G A intron_variant MELA-AU 13 36240617 36240617 single base substitution G A upstream_gene_variant MELA-AU 13 36240624 36240624 single base substitution G A intron_variant MELA-AU 13 36240624 36240624 single base substitution G A upstream_gene_variant MELA-AU 13 36240651 36240651 single base substitution C T intron_variant MELA-AU 13 36240651 36240651 single base substitution C T upstream_gene_variant MELA-AU 13 36240652 36240652 single base substitution C T intron_variant MELA-AU 13 36240652 36240652 single base substitution C T upstream_gene_variant MELA-AU 13 36240789 36240789 single base substitution T A intron_variant MELA-AU 13 36240789 36240789 single base substitution T A upstream_gene_variant MELA-AU 13 36240851 36240851 single base substitution C T intron_variant MELA-AU 13 36240851 36240851 single base substitution C T upstream_gene_variant MELA-AU 13 36240907 36240907 single base substitution C T intron_variant MELA-AU 13 36240907 36240907 single base substitution C T upstream_gene_variant MELA-AU 13 36240961 36240961 single base substitution C T intron_variant MELA-AU 13 36240961 36240961 single base substitution C T upstream_gene_variant MELA-AU 13 36241207 36241207 single base substitution A C intron_variant MELA-AU 13 36241207 36241207 single base substitution A C upstream_gene_variant MELA-AU 13 36241271 36241271 single base substitution G A intron_variant MELA-AU 13 36241271 36241271 single base substitution G A upstream_gene_variant MELA-AU 13 36241383 36241383 single base substitution G A intron_variant MELA-AU 13 36241383 36241383 single base substitution G A upstream_gene_variant MELA-AU 13 36241584 36241584 single base substitution C T synonymous_variant F2822F 8466C>T MELA-AU 13 36241584 36241584 single base substitution C T synonymous_variant F2825F 8475C>T MELA-AU 13 36241584 36241584 single base substitution C T synonymous_variant F403F 1209C>T MELA-AU 13 36241584 36241584 single base substitution C T synonymous_variant F618F 1854C>T MELA-AU 13 36241584 36241584 single base substitution C T upstream_gene_variant MELA-AU 13 36241586 36241586 single base substitution C T missense_variant P2823L 8468C>T MELA-AU 13 36241586 36241586 single base substitution C T missense_variant P2826L 8477C>T MELA-AU 13 36241586 36241586 single base substitution C T missense_variant P404L 1211C>T MELA-AU 13 36241586 36241586 single base substitution C T missense_variant P619L 1856C>T MELA-AU 13 36241586 36241586 single base substitution C T upstream_gene_variant MELA-AU 13 36241623 36241623 single base substitution C T synonymous_variant I2835I 8505C>T MELA-AU 13 36241623 36241623 single base substitution C T synonymous_variant I2838I 8514C>T MELA-AU 13 36241623 36241623 single base substitution C T synonymous_variant I416I 1248C>T MELA-AU 13 36241623 36241623 single base substitution C T synonymous_variant I631I 1893C>T MELA-AU 13 36241623 36241623 single base substitution C T upstream_gene_variant MELA-AU 13 36241643 36241643 single base substitution G A missense_variant R2842Q 8525G>A MELA-AU 13 36241643 36241643 single base substitution G A missense_variant R2845Q 8534G>A MELA-AU 13 36241643 36241643 single base substitution G A missense_variant R423Q 1268G>A MELA-AU 13 36241643 36241643 single base substitution G A missense_variant R638Q 1913G>A MELA-AU 13 36241643 36241643 single base substitution G A upstream_gene_variant MELA-AU 13 36241668 36241668 single base substitution G A synonymous_variant G2850G 8550G>A MELA-AU 13 36241668 36241668 single base substitution G A synonymous_variant G2853G 8559G>A MELA-AU 13 36241668 36241668 single base substitution G A synonymous_variant G431G 1293G>A MELA-AU 13 36241668 36241668 single base substitution G A synonymous_variant G646G 1938G>A MELA-AU 13 36241668 36241668 single base substitution G A upstream_gene_variant MELA-AU 13 36241700 36241700 single base substitution C T missense_variant S2861L 8582C>T MELA-AU 13 36241700 36241700 single base substitution C T missense_variant S2864L 8591C>T MELA-AU 13 36241700 36241700 single base substitution C T missense_variant S442L 1325C>T MELA-AU 13 36241700 36241700 single base substitution C T missense_variant S657L 1970C>T MELA-AU 13 36241700 36241700 single base substitution C T upstream_gene_variant MELA-AU 13 36241790 36241790 single base substitution G A intron_variant MELA-AU 13 36241790 36241790 single base substitution G A upstream_gene_variant MELA-AU 13 36241953 36241953 single base substitution C T intron_variant MELA-AU 13 36241953 36241953 single base substitution C T upstream_gene_variant MELA-AU 13 36241959 36241959 single base substitution G A intron_variant MELA-AU 13 36241959 36241959 single base substitution G A upstream_gene_variant MELA-AU 13 36242080 36242080 single base substitution C T intron_variant MELA-AU 13 36242080 36242080 single base substitution C T upstream_gene_variant MELA-AU 13 36242168 36242168 single base substitution C T intron_variant MELA-AU 13 36242168 36242168 single base substitution C T upstream_gene_variant MELA-AU 13 36242179 36242179 single base substitution A G intron_variant MELA-AU 13 36242179 36242179 single base substitution A G upstream_gene_variant MELA-AU 13 36242300 36242300 single base substitution C T intron_variant MELA-AU 13 36242300 36242300 single base substitution C T upstream_gene_variant MELA-AU 13 36242549 36242549 single base substitution G A synonymous_variant G2878G 8634G>A MELA-AU 13 36242549 36242549 single base substitution G A synonymous_variant G2881G 8643G>A MELA-AU 13 36242549 36242549 single base substitution G A synonymous_variant G459G 1377G>A MELA-AU 13 36242549 36242549 single base substitution G A synonymous_variant G674G 2022G>A MELA-AU 13 36242549 36242549 single base substitution G A upstream_gene_variant MELA-AU 13 36242559 36242559 single base substitution G A missense_variant V2882I 8644G>A MELA-AU 13 36242559 36242559 single base substitution G A missense_variant V2885I 8653G>A MELA-AU 13 36242559 36242559 single base substitution G A missense_variant V463I 1387G>A MELA-AU 13 36242559 36242559 single base substitution G A missense_variant V678I 2032G>A MELA-AU 13 36242559 36242559 single base substitution G A upstream_gene_variant MELA-AU 13 36242611 36242611 single base substitution G A missense_variant G2899E 8696G>A MELA-AU 13 36242611 36242611 single base substitution G A missense_variant G2902E 8705G>A MELA-AU 13 36242611 36242611 single base substitution G A missense_variant G480E 1439G>A MELA-AU 13 36242611 36242611 single base substitution G A missense_variant G695E 2084G>A MELA-AU 13 36242611 36242611 single base substitution G A upstream_gene_variant MELA-AU 13 36242810 36242810 single base substitution G A intron_variant MELA-AU 13 36242810 36242810 single base substitution G A upstream_gene_variant MELA-AU 13 36242825 36242825 single base substitution G A intron_variant MELA-AU 13 36242825 36242825 single base substitution G A upstream_gene_variant MELA-AU 13 36242834 36242834 single base substitution G A intron_variant MELA-AU 13 36242834 36242834 single base substitution G A upstream_gene_variant MELA-AU 13 36242951 36242951 single base substitution C T intron_variant MELA-AU 13 36242951 36242951 single base substitution C T upstream_gene_variant MELA-AU 13 36243010 36243010 single base substitution C T intron_variant MELA-AU 13 36243010 36243010 single base substitution C T upstream_gene_variant MELA-AU 13 36243351 36243351 single base substitution T A intron_variant MELA-AU 13 36243351 36243351 single base substitution T A upstream_gene_variant MELA-AU 13 36243638 36243639 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 36243638 36243639 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 36243780 36243780 single base substitution C T intron_variant MELA-AU 13 36243780 36243780 single base substitution C T upstream_gene_variant MELA-AU 13 36244170 36244170 single base substitution C T intron_variant MELA-AU 13 36244170 36244170 single base substitution C T upstream_gene_variant MELA-AU 13 36244187 36244187 single base substitution T C intron_variant MELA-AU 13 36244187 36244187 single base substitution T C upstream_gene_variant MELA-AU 13 36244201 36244201 single base substitution G A intron_variant MELA-AU 13 36244201 36244201 single base substitution G A upstream_gene_variant MELA-AU 13 36244292 36244292 single base substitution G A intron_variant MELA-AU 13 36244292 36244292 single base substitution G A upstream_gene_variant MELA-AU 13 36244362 36244362 single base substitution G A intron_variant MELA-AU 13 36244362 36244362 single base substitution G A upstream_gene_variant MELA-AU 13 36244372 36244372 single base substitution G A intron_variant MELA-AU 13 36244372 36244372 single base substitution G A upstream_gene_variant MELA-AU 13 36244420 36244420 single base substitution G A intron_variant MELA-AU 13 36244420 36244420 single base substitution G A upstream_gene_variant MELA-AU 13 36244465 36244465 single base substitution G A intron_variant MELA-AU 13 36244465 36244465 single base substitution G A upstream_gene_variant MELA-AU 13 36244547 36244547 single base substitution G A intron_variant MELA-AU 13 36244547 36244547 single base substitution G A upstream_gene_variant MELA-AU 13 36244548 36244548 single base substitution G A intron_variant MELA-AU 13 36244548 36244548 single base substitution G A upstream_gene_variant MELA-AU 13 36244672 36244672 single base substitution G A intron_variant MELA-AU 13 36244672 36244672 single base substitution G A upstream_gene_variant MELA-AU 13 36244791 36244791 single base substitution G A intron_variant MELA-AU 13 36244791 36244791 single base substitution G A upstream_gene_variant MELA-AU 13 36244822 36244822 single base substitution C T intron_variant MELA-AU 13 36244822 36244822 single base substitution C T upstream_gene_variant MELA-AU 13 36244840 36244840 single base substitution G A intron_variant MELA-AU 13 36244840 36244840 single base substitution G A upstream_gene_variant MELA-AU 13 36245354 36245354 single base substitution G A 3_prime_UTR_variant MELA-AU 13 36245354 36245354 single base substitution G A exon_variant MELA-AU 13 36245414 36245414 single base substitution G A 3_prime_UTR_variant MELA-AU 13 36245414 36245414 single base substitution G A intron_variant MELA-AU 13 36245729 36245729 single base substitution G A 3_prime_UTR_variant MELA-AU 13 36245729 36245729 single base substitution G A downstream_gene_variant MELA-AU 13 36245729 36245729 single base substitution G A intron_variant MELA-AU 13 36245747 36245747 single base substitution G A 3_prime_UTR_variant MELA-AU 13 36245747 36245747 single base substitution G A downstream_gene_variant MELA-AU 13 36245747 36245747 single base substitution G A intron_variant MELA-AU 13 36245786 36245786 single base substitution C T 3_prime_UTR_variant MELA-AU 13 36245786 36245786 single base substitution C T downstream_gene_variant MELA-AU 13 36245786 36245786 single base substitution C T intron_variant MELA-AU 13 36246361 36246361 single base substitution C T 3_prime_UTR_variant MELA-AU 13 36246361 36246361 single base substitution C T downstream_gene_variant MELA-AU 13 36246361 36246361 single base substitution C T intron_variant MELA-AU 13 36246580 36246580 single base substitution C T 3_prime_UTR_variant MELA-AU 13 36246580 36246580 single base substitution C T downstream_gene_variant MELA-AU 13 36246580 36246580 single base substitution C T intron_variant MELA-AU 13 36246587 36246587 single base substitution C T 3_prime_UTR_variant MELA-AU 13 36246587 36246587 single base substitution C T downstream_gene_variant MELA-AU 13 36246587 36246587 single base substitution C T intron_variant MELA-AU 13 36246748 36246748 single base substitution G A 3_prime_UTR_variant MELA-AU 13 36246748 36246748 single base substitution G A downstream_gene_variant MELA-AU 13 36246748 36246748 single base substitution G A intron_variant MELA-AU 13 36246854 36246854 single base substitution T A 3_prime_UTR_variant MELA-AU 13 36246854 36246854 single base substitution T A downstream_gene_variant MELA-AU 13 36246854 36246854 single base substitution T A intron_variant MELA-AU 13 36246891 36246891 single base substitution C T downstream_gene_variant MELA-AU 13 36246891 36246891 single base substitution C T intron_variant MELA-AU 13 36247328 36247328 single base substitution G A downstream_gene_variant MELA-AU 13 36247332 36247332 single base substitution A C downstream_gene_variant MELA-AU 13 36247382 36247383 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 13 36247471 36247471 single base substitution C T downstream_gene_variant MELA-AU 13 36247554 36247554 single base substitution G A downstream_gene_variant MELA-AU 13 36247594 36247594 single base substitution G A downstream_gene_variant MELA-AU 13 36247664 36247664 single base substitution C T downstream_gene_variant MELA-AU 13 36247746 36247746 single base substitution G A downstream_gene_variant MELA-AU 13 36247758 36247758 single base substitution C T downstream_gene_variant MELA-AU 13 36247936 36247936 deletion of <=200bp C - downstream_gene_variant MELA-AU 13 36248011 36248011 single base substitution G A downstream_gene_variant MELA-AU 13 36248105 36248105 single base substitution C T downstream_gene_variant MELA-AU 13 36248117 36248117 single base substitution C T downstream_gene_variant MELA-AU 13 36248326 36248326 single base substitution G A downstream_gene_variant MELA-AU 13 36248550 36248550 single base substitution C T downstream_gene_variant MELA-AU 13 36248693 36248693 single base substitution C G downstream_gene_variant MELA-AU 13 36248973 36248973 single base substitution C T downstream_gene_variant MELA-AU 13 36249099 36249099 single base substitution G A downstream_gene_variant MELA-AU 13 36249142 36249142 single base substitution C T downstream_gene_variant MELA-AU 13 36249198 36249198 single base substitution C T downstream_gene_variant MELA-AU 13 36249410 36249410 single base substitution C T downstream_gene_variant MELA-AU 13 36249433 36249433 single base substitution G A downstream_gene_variant MELA-AU 13 36249523 36249523 single base substitution G A downstream_gene_variant MELA-AU 13 36249580 36249580 single base substitution C T downstream_gene_variant MELA-AU 13 36249600 36249600 single base substitution G A downstream_gene_variant MELA-AU 13 36249752 36249752 single base substitution G A downstream_gene_variant MELA-AU 13 36249981 36249981 single base substitution C T downstream_gene_variant MELA-AU 13 36250067 36250067 single base substitution G T downstream_gene_variant MELA-AU 13 36250250 36250250 single base substitution G A downstream_gene_variant MELA-AU 13 36250285 36250285 single base substitution C T downstream_gene_variant MELA-AU 13 36250348 36250348 single base substitution C T downstream_gene_variant MELA-AU 13 36250393 36250393 single base substitution G A downstream_gene_variant MELA-AU 13 36250463 36250463 single base substitution T C downstream_gene_variant MELA-AU 13 36250757 36250757 single base substitution A G downstream_gene_variant MELA-AU 13 36250782 36250782 single base substitution C T downstream_gene_variant MELA-AU 13 36250904 36250904 single base substitution G A downstream_gene_variant MELA-AU 13 36250915 36250915 single base substitution G A downstream_gene_variant MELA-AU 13 36251066 36251066 single base substitution G A downstream_gene_variant MELA-AU 13 36251141 36251141 single base substitution G A downstream_gene_variant MELA-AU 13 36251237 36251237 single base substitution G A downstream_gene_variant MELA-AU 13 36251264 36251264 single base substitution C G downstream_gene_variant MELA-AU 13 36251294 36251294 single base substitution G A downstream_gene_variant MELA-AU 13 36251371 36251371 single base substitution G A downstream_gene_variant MELA-AU 13 36251555 36251555 single base substitution C T downstream_gene_variant MELA-AU 13 36251594 36251594 single base substitution C T downstream_gene_variant MELA-AU 13 36251615 36251615 single base substitution A G downstream_gene_variant MELA-AU 13 36251663 36251663 single base substitution C T downstream_gene_variant MELA-AU 13 36251690 36251690 single base substitution G A downstream_gene_variant MELA-AU 13 36251702 36251702 single base substitution A G downstream_gene_variant MELA-AU 13 36251918 36251918 single base substitution G A downstream_gene_variant MELA-AU 13 36251948 36251948 single base substitution C T downstream_gene_variant ORCA-IN 13 35517170 35517170 single base substitution G A synonymous_variant R71R 213G>A ORCA-IN 13 35525529 35525529 single base substitution T A intron_variant ORCA-IN 13 35555258 35555258 single base substitution T C intron_variant ORCA-IN 13 35576111 35576111 single base substitution C T intron_variant ORCA-IN 13 35597153 35597153 single base substitution T G intron_variant ORCA-IN 13 35603891 35603891 single base substitution G A intron_variant ORCA-IN 13 35615210 35615210 single base substitution A G synonymous_variant R145R 435A>G ORCA-IN 13 35615430 35615430 single base substitution A G intron_variant ORCA-IN 13 35638324 35638324 single base substitution T A intron_variant ORCA-IN 13 35644179 35644179 single base substitution G T exon_variant ORCA-IN 13 35644179 35644179 single base substitution G T synonymous_variant L458L 1374G>T ORCA-IN 13 35648281 35648281 single base substitution G T downstream_gene_variant ORCA-IN 13 35648281 35648281 single base substitution G T intron_variant ORCA-IN 13 35649684 35649684 single base substitution T C downstream_gene_variant ORCA-IN 13 35649684 35649684 single base substitution T C intron_variant ORCA-IN 13 35670671 35670671 single base substitution A T intron_variant ORCA-IN 13 35671967 35671967 single base substitution G A intron_variant ORCA-IN 13 35676466 35676466 single base substitution T A intron_variant ORCA-IN 13 35684957 35684957 single base substitution C G missense_variant S615C 1844C>G ORCA-IN 13 35685877 35685877 single base substitution T G intron_variant ORCA-IN 13 35697661 35697661 single base substitution G T missense_variant W762C 2286G>T ORCA-IN 13 35706485 35706485 single base substitution T A intron_variant ORCA-IN 13 35714768 35714768 single base substitution A G intron_variant ORCA-IN 13 35728724 35728724 single base substitution A G intron_variant ORCA-IN 13 35733822 35733822 single base substitution C A missense_variant Q1172K 3514C>A ORCA-IN 13 35735900 35735900 single base substitution G A missense_variant R1292Q 3875G>A ORCA-IN 13 35735978 35735978 single base substitution G A missense_variant R1318H 3953G>A ORCA-IN 13 35743068 35743068 single base substitution A G intron_variant ORCA-IN 13 35746910 35746910 single base substitution G C intron_variant ORCA-IN 13 35763020 35763020 single base substitution C T intron_variant ORCA-IN 13 35770200 35770200 single base substitution C T synonymous_variant S1706S 5118C>T ORCA-IN 13 35770200 35770200 single base substitution C T synonymous_variant S1709S 5127C>T ORCA-IN 13 35787780 35787780 single base substitution C G intron_variant ORCA-IN 13 35802767 35802767 single base substitution G A intron_variant ORCA-IN 13 35804210 35804210 single base substitution G A intron_variant ORCA-IN 13 35811150 35811150 single base substitution C A intron_variant ORCA-IN 13 35815009 35815009 single base substitution G A intron_variant ORCA-IN 13 35818914 35818914 single base substitution G C intron_variant ORCA-IN 13 35819642 35819642 single base substitution G A intron_variant ORCA-IN 13 35831947 35831947 single base substitution G C intron_variant ORCA-IN 13 35839533 35839533 single base substitution G T intron_variant ORCA-IN 13 35848145 35848145 single base substitution C G intron_variant ORCA-IN 13 35855115 35855115 single base substitution C T intron_variant ORCA-IN 13 35875849 35875849 single base substitution G A intron_variant ORCA-IN 13 35877647 35877647 single base substitution A G intron_variant ORCA-IN 13 35882049 35882049 single base substitution A G intron_variant ORCA-IN 13 35882337 35882337 single base substitution G C intron_variant ORCA-IN 13 35894000 35894000 single base substitution T G intron_variant ORCA-IN 13 35902310 35902310 single base substitution A C intron_variant ORCA-IN 13 35945839 35945839 single base substitution T C intron_variant ORCA-IN 13 35946675 35946675 single base substitution G A intron_variant ORCA-IN 13 35953168 35953168 single base substitution A C intron_variant ORCA-IN 13 35963480 35963480 single base substitution C T intron_variant ORCA-IN 13 35975126 35975126 single base substitution C G intron_variant ORCA-IN 13 35985555 35985555 single base substitution C T intron_variant ORCA-IN 13 35992195 35992195 single base substitution G T intron_variant ORCA-IN 13 35992358 35992358 single base substitution G A intron_variant ORCA-IN 13 36013458 36013458 single base substitution T A intron_variant ORCA-IN 13 36019003 36019003 single base substitution G A intron_variant ORCA-IN 13 36025446 36025446 single base substitution G C intron_variant ORCA-IN 13 36030648 36030648 single base substitution C G intron_variant ORCA-IN 13 36033156 36033156 deletion of <=200bp A - intron_variant ORCA-IN 13 36044965 36044965 single base substitution C T intron_variant ORCA-IN 13 36047435 36047435 single base substitution A C intron_variant ORCA-IN 13 36047435 36047435 single base substitution A C upstream_gene_variant ORCA-IN 13 36063071 36063071 single base substitution A G intron_variant ORCA-IN 13 36064237 36064237 single base substitution G T intron_variant ORCA-IN 13 36066160 36066160 single base substitution G A intron_variant ORCA-IN 13 36090405 36090405 single base substitution C T intron_variant ORCA-IN 13 36101117 36101117 single base substitution G A intron_variant ORCA-IN 13 36101478 36101478 single base substitution G A intron_variant ORCA-IN 13 36106838 36106838 single base substitution C G intron_variant ORCA-IN 13 36110200 36110200 single base substitution A G intron_variant ORCA-IN 13 36116666 36116666 single base substitution G C intron_variant ORCA-IN 13 36119851 36119851 single base substitution C T intron_variant ORCA-IN 13 36141056 36141056 single base substitution G A missense_variant D106N 316G>A ORCA-IN 13 36141056 36141056 single base substitution G A missense_variant D2310N 6928G>A ORCA-IN 13 36141056 36141056 single base substitution G A missense_variant D2313N 6937G>A ORCA-IN 13 36160043 36160043 single base substitution C G intron_variant ORCA-IN 13 36202251 36202251 single base substitution C T missense_variant H2492Y 7474C>T ORCA-IN 13 36202251 36202251 single base substitution C T missense_variant H2495Y 7483C>T ORCA-IN 13 36202251 36202251 single base substitution C T missense_variant H288Y 862C>T ORCA-IN 13 36202251 36202251 single base substitution C T missense_variant H52Y 154C>T ORCA-IN 13 36208297 36208297 single base substitution C A intron_variant ORCA-IN 13 36210527 36210527 single base substitution C T intron_variant ORCA-IN 13 36211497 36211497 single base substitution C T intron_variant ORCA-IN 13 36220982 36220982 single base substitution C T intron_variant ORCA-IN 13 36224860 36224860 single base substitution C T intron_variant OV-AU 13 35511853 35511853 single base substitution G A upstream_gene_variant OV-AU 13 35524194 35524194 single base substitution T A intron_variant OV-AU 13 35525457 35525457 single base substitution G A intron_variant OV-AU 13 35531173 35531173 single base substitution C T intron_variant OV-AU 13 35534868 35534868 single base substitution T C intron_variant OV-AU 13 35543869 35543869 single base substitution T G intron_variant OV-AU 13 35545420 35545420 single base substitution G T intron_variant OV-AU 13 35546811 35546811 single base substitution C T intron_variant OV-AU 13 35546888 35546888 single base substitution C T intron_variant OV-AU 13 35556094 35556094 single base substitution C T intron_variant OV-AU 13 35556233 35556233 single base substitution T A intron_variant OV-AU 13 35561894 35561894 single base substitution T A intron_variant OV-AU 13 35568611 35568611 single base substitution T C intron_variant OV-AU 13 35570617 35570617 single base substitution G A intron_variant OV-AU 13 35573319 35573319 single base substitution G C intron_variant OV-AU 13 35573327 35573327 single base substitution A T intron_variant OV-AU 13 35575109 35575109 single base substitution G T intron_variant OV-AU 13 35578076 35578076 single base substitution C A intron_variant OV-AU 13 35581619 35581619 single base substitution C T intron_variant OV-AU 13 35582470 35582470 single base substitution C T intron_variant OV-AU 13 35583845 35583845 single base substitution G A intron_variant OV-AU 13 35589626 35589626 single base substitution G C intron_variant OV-AU 13 35590503 35590503 single base substitution A G intron_variant OV-AU 13 35594569 35594569 single base substitution G A intron_variant OV-AU 13 35601069 35601069 single base substitution T C intron_variant OV-AU 13 35601875 35601875 single base substitution C G intron_variant OV-AU 13 35603783 35603783 single base substitution G A intron_variant OV-AU 13 35611582 35611582 single base substitution G A intron_variant OV-AU 13 35612968 35612968 single base substitution G A intron_variant OV-AU 13 35616182 35616182 single base substitution T C intron_variant OV-AU 13 35623236 35623236 single base substitution A G intron_variant OV-AU 13 35623980 35623980 single base substitution C T intron_variant OV-AU 13 35628274 35628274 single base substitution T C intron_variant OV-AU 13 35639495 35639495 single base substitution G T intron_variant OV-AU 13 35639495 35639495 single base substitution G T upstream_gene_variant OV-AU 13 35643670 35643670 single base substitution G C intron_variant OV-AU 13 35643670 35643670 single base substitution G C upstream_gene_variant OV-AU 13 35656553 35656553 single base substitution C A intron_variant OV-AU 13 35657186 35657186 single base substitution T C intron_variant OV-AU 13 35660399 35660399 single base substitution G A intron_variant OV-AU 13 35661929 35661929 single base substitution C G intron_variant OV-AU 13 35662053 35662053 single base substitution A C intron_variant OV-AU 13 35664680 35664680 single base substitution A G intron_variant OV-AU 13 35665991 35665991 single base substitution A G intron_variant OV-AU 13 35673115 35673115 single base substitution T C intron_variant OV-AU 13 35676844 35676844 single base substitution G T intron_variant OV-AU 13 35680790 35680790 single base substitution A C intron_variant OV-AU 13 35681916 35681916 single base substitution G A intron_variant OV-AU 13 35685429 35685429 single base substitution G T intron_variant OV-AU 13 35687371 35687371 single base substitution C T intron_variant OV-AU 13 35690469 35690469 single base substitution T G intron_variant OV-AU 13 35702486 35702486 single base substitution T C intron_variant OV-AU 13 35711041 35711041 single base substitution C G intron_variant OV-AU 13 35711048 35711048 single base substitution C A intron_variant OV-AU 13 35718342 35718342 single base substitution A G intron_variant OV-AU 13 35720677 35720677 single base substitution G C intron_variant OV-AU 13 35724666 35724666 single base substitution A G intron_variant OV-AU 13 35741840 35741840 single base substitution T C intron_variant OV-AU 13 35744268 35744268 single base substitution G C intron_variant OV-AU 13 35747872 35747872 single base substitution A G intron_variant OV-AU 13 35748573 35748573 single base substitution A T intron_variant OV-AU 13 35754838 35754838 single base substitution G T intron_variant OV-AU 13 35756496 35756496 single base substitution G T splice_acceptor_variant OV-AU 13 35758728 35758728 single base substitution A C intron_variant OV-AU 13 35762678 35762678 single base substitution A G intron_variant OV-AU 13 35768283 35768283 single base substitution C A intron_variant OV-AU 13 35770164 35770164 single base substitution T G synonymous_variant P1694P 5082T>G OV-AU 13 35770164 35770164 single base substitution T G synonymous_variant P1697P 5091T>G OV-AU 13 35770374 35770374 single base substitution C G stop_gained Y1764* 5292C>G OV-AU 13 35770374 35770374 single base substitution C G stop_gained Y1767* 5301C>G OV-AU 13 35772450 35772450 single base substitution G C intron_variant OV-AU 13 35773330 35773330 single base substitution G T intron_variant OV-AU 13 35782182 35782182 single base substitution C A intron_variant OV-AU 13 35786992 35786992 single base substitution C T intron_variant OV-AU 13 35787808 35787808 single base substitution T C intron_variant OV-AU 13 35792156 35792156 single base substitution C T intron_variant OV-AU 13 35793881 35793881 single base substitution G T intron_variant OV-AU 13 35799325 35799325 single base substitution T A intron_variant OV-AU 13 35801791 35801791 single base substitution T A intron_variant OV-AU 13 35802542 35802542 single base substitution G T intron_variant OV-AU 13 35802543 35802543 single base substitution G T intron_variant OV-AU 13 35810758 35810758 single base substitution T A intron_variant OV-AU 13 35813516 35813516 single base substitution G C intron_variant OV-AU 13 35815003 35815003 single base substitution A C intron_variant OV-AU 13 35816677 35816677 single base substitution C G intron_variant OV-AU 13 35817742 35817742 single base substitution C T intron_variant OV-AU 13 35823009 35823009 single base substitution G A intron_variant OV-AU 13 35825021 35825021 single base substitution T G intron_variant OV-AU 13 35826746 35826746 single base substitution T A intron_variant OV-AU 13 35828386 35828386 single base substitution A C intron_variant OV-AU 13 35829596 35829596 single base substitution G A intron_variant OV-AU 13 35834224 35834224 single base substitution T C intron_variant OV-AU 13 35835949 35835949 single base substitution T A intron_variant OV-AU 13 35854874 35854874 single base substitution T G intron_variant OV-AU 13 35857541 35857541 single base substitution C G intron_variant OV-AU 13 35862246 35862246 single base substitution C T intron_variant OV-AU 13 35864085 35864085 single base substitution T C intron_variant OV-AU 13 35864603 35864603 single base substitution C T intron_variant OV-AU 13 35867427 35867427 single base substitution A C intron_variant OV-AU 13 35874981 35874981 single base substitution T G intron_variant OV-AU 13 35876369 35876369 single base substitution G A intron_variant OV-AU 13 35877662 35877662 single base substitution A G intron_variant OV-AU 13 35879136 35879136 single base substitution C A intron_variant OV-AU 13 35879160 35879160 single base substitution A T intron_variant OV-AU 13 35882344 35882344 single base substitution T G intron_variant OV-AU 13 35883331 35883331 single base substitution A C intron_variant OV-AU 13 35883427 35883427 single base substitution T C intron_variant OV-AU 13 35885917 35885917 single base substitution G C intron_variant OV-AU 13 35887766 35887766 single base substitution A T intron_variant OV-AU 13 35888850 35888850 single base substitution C A intron_variant OV-AU 13 35891416 35891416 single base substitution T C intron_variant OV-AU 13 35891948 35891948 single base substitution G T intron_variant OV-AU 13 35892112 35892112 single base substitution G A intron_variant OV-AU 13 35896126 35896126 single base substitution C T intron_variant OV-AU 13 35898791 35898791 single base substitution C T intron_variant OV-AU 13 35899708 35899708 single base substitution A T intron_variant OV-AU 13 35904868 35904868 single base substitution A T intron_variant OV-AU 13 35909677 35909677 single base substitution C A intron_variant OV-AU 13 35911474 35911474 single base substitution C T intron_variant OV-AU 13 35915291 35915291 single base substitution T G intron_variant OV-AU 13 35915317 35915317 single base substitution G T intron_variant OV-AU 13 35917032 35917032 single base substitution G A intron_variant OV-AU 13 35917452 35917452 single base substitution C G intron_variant OV-AU 13 35920347 35920347 single base substitution C G intron_variant OV-AU 13 35921650 35921650 single base substitution T C intron_variant OV-AU 13 35925683 35925683 single base substitution C A intron_variant OV-AU 13 35928169 35928169 single base substitution G A intron_variant OV-AU 13 35929072 35929072 single base substitution A T intron_variant OV-AU 13 35931083 35931083 single base substitution C G intron_variant OV-AU 13 35935293 35935293 single base substitution G C intron_variant OV-AU 13 35935816 35935816 single base substitution G C intron_variant OV-AU 13 35938521 35938521 single base substitution A C intron_variant OV-AU 13 35949008 35949008 single base substitution A T intron_variant OV-AU 13 35953546 35953546 single base substitution T C intron_variant OV-AU 13 35958244 35958244 single base substitution T A intron_variant OV-AU 13 35958591 35958591 single base substitution T A intron_variant OV-AU 13 35959130 35959130 single base substitution C G intron_variant OV-AU 13 35959348 35959348 single base substitution C T intron_variant OV-AU 13 35964467 35964467 single base substitution C A intron_variant OV-AU 13 35967063 35967063 single base substitution G C intron_variant OV-AU 13 35969123 35969123 single base substitution T A intron_variant OV-AU 13 35972261 35972261 single base substitution A T intron_variant OV-AU 13 35976109 35976109 single base substitution T A intron_variant OV-AU 13 35978232 35978232 single base substitution A G intron_variant OV-AU 13 35978233 35978233 single base substitution G T intron_variant OV-AU 13 35979113 35979113 single base substitution G T intron_variant OV-AU 13 35984478 35984478 single base substitution G A intron_variant OV-AU 13 35985905 35985905 single base substitution G T intron_variant OV-AU 13 35987148 35987148 single base substitution A G intron_variant OV-AU 13 35993334 35993334 single base substitution A T intron_variant OV-AU 13 35996209 35996209 single base substitution C T intron_variant OV-AU 13 35996437 35996437 single base substitution C A intron_variant OV-AU 13 36009573 36009573 single base substitution A G intron_variant OV-AU 13 36014039 36014039 single base substitution G A intron_variant OV-AU 13 36014760 36014760 single base substitution G T intron_variant OV-AU 13 36015288 36015288 single base substitution A C intron_variant OV-AU 13 36015431 36015431 single base substitution G T intron_variant OV-AU 13 36016431 36016431 single base substitution C T intron_variant OV-AU 13 36016714 36016714 single base substitution T C intron_variant OV-AU 13 36020604 36020604 single base substitution C G intron_variant OV-AU 13 36024104 36024104 single base substitution G A intron_variant OV-AU 13 36025450 36025450 single base substitution C T intron_variant OV-AU 13 36025495 36025495 single base substitution G A intron_variant OV-AU 13 36025961 36025961 single base substitution C T intron_variant OV-AU 13 36025974 36025974 single base substitution G C intron_variant OV-AU 13 36027767 36027767 single base substitution T A intron_variant OV-AU 13 36028932 36028932 single base substitution G A intron_variant OV-AU 13 36029824 36029824 single base substitution G C intron_variant OV-AU 13 36032007 36032007 single base substitution G T intron_variant OV-AU 13 36032327 36032327 single base substitution G A intron_variant OV-AU 13 36036465 36036465 single base substitution C A intron_variant OV-AU 13 36037173 36037173 single base substitution A C intron_variant OV-AU 13 36039082 36039082 single base substitution A G intron_variant OV-AU 13 36040336 36040336 single base substitution G T intron_variant OV-AU 13 36040494 36040494 single base substitution A C intron_variant OV-AU 13 36041971 36041971 single base substitution A T intron_variant OV-AU 13 36047213 36047213 single base substitution T C intron_variant OV-AU 13 36047213 36047213 single base substitution T C upstream_gene_variant OV-AU 13 36051750 36051750 single base substitution G A intron_variant OV-AU 13 36057582 36057582 single base substitution C T intron_variant OV-AU 13 36067084 36067084 single base substitution A T intron_variant OV-AU 13 36073299 36073299 single base substitution C G intron_variant OV-AU 13 36081194 36081194 single base substitution T G intron_variant OV-AU 13 36087005 36087005 single base substitution G C intron_variant OV-AU 13 36089641 36089641 single base substitution A C intron_variant OV-AU 13 36090130 36090130 single base substitution T C intron_variant OV-AU 13 36095749 36095749 single base substitution C T intron_variant OV-AU 13 36100603 36100603 single base substitution T G intron_variant OV-AU 13 36107172 36107172 single base substitution G A intron_variant OV-AU 13 36108308 36108308 single base substitution C G intron_variant OV-AU 13 36121516 36121516 single base substitution T G intron_variant OV-AU 13 36124883 36124883 single base substitution T A intron_variant OV-AU 13 36131439 36131439 single base substitution C A intron_variant OV-AU 13 36136003 36136003 single base substitution A T intron_variant OV-AU 13 36137166 36137166 single base substitution G T intron_variant OV-AU 13 36138634 36138634 single base substitution A T intron_variant OV-AU 13 36139346 36139346 single base substitution T G intron_variant OV-AU 13 36140190 36140190 single base substitution T C intron_variant OV-AU 13 36152712 36152712 single base substitution A C intron_variant OV-AU 13 36153383 36153383 single base substitution G C intron_variant OV-AU 13 36154021 36154021 single base substitution A T intron_variant OV-AU 13 36158274 36158274 single base substitution G C intron_variant OV-AU 13 36159009 36159009 single base substitution C G intron_variant OV-AU 13 36159357 36159357 single base substitution C A intron_variant OV-AU 13 36164004 36164004 single base substitution G A intron_variant OV-AU 13 36164004 36164004 single base substitution G A upstream_gene_variant OV-AU 13 36166454 36166454 single base substitution T C intron_variant OV-AU 13 36166454 36166454 single base substitution T C upstream_gene_variant OV-AU 13 36167729 36167729 single base substitution A C intron_variant OV-AU 13 36175790 36175790 single base substitution T A intron_variant OV-AU 13 36182927 36182927 single base substitution C A intron_variant OV-AU 13 36184351 36184351 single base substitution A T intron_variant OV-AU 13 36187105 36187105 single base substitution G T intron_variant OV-AU 13 36188370 36188370 single base substitution T C intron_variant OV-AU 13 36208834 36208834 single base substitution T G intron_variant OV-AU 13 36212821 36212821 single base substitution A C intron_variant OV-AU 13 36217868 36217868 single base substitution T C intron_variant OV-AU 13 36218028 36218028 single base substitution G C intron_variant OV-AU 13 36218603 36218603 single base substitution T G intron_variant OV-AU 13 36218677 36218677 single base substitution C A intron_variant OV-AU 13 36220023 36220023 single base substitution C T intron_variant OV-AU 13 36220023 36220023 single base substitution C T synonymous_variant F102F 306C>T OV-AU 13 36221117 36221117 single base substitution A G intron_variant OV-AU 13 36221285 36221285 single base substitution G C intron_variant OV-AU 13 36223737 36223737 single base substitution C T intron_variant OV-AU 13 36225041 36225041 single base substitution G T intron_variant OV-AU 13 36230705 36230705 single base substitution C G intron_variant OV-AU 13 36234071 36234071 single base substitution C G intron_variant OV-AU 13 36240079 36240079 single base substitution G C intron_variant OV-AU 13 36240445 36240445 single base substitution G T intron_variant OV-AU 13 36240445 36240445 single base substitution G T upstream_gene_variant OV-AU 13 36243648 36243648 single base substitution T C intron_variant OV-AU 13 36243648 36243648 single base substitution T C upstream_gene_variant OV-AU 13 36246613 36246613 single base substitution T A 3_prime_UTR_variant OV-AU 13 36246613 36246613 single base substitution T A downstream_gene_variant OV-AU 13 36246613 36246613 single base substitution T A intron_variant OV-AU 13 36251154 36251154 single base substitution C G downstream_gene_variant OV-US 13 35615294 35615294 single base substitution G A missense_variant M173I 519G>A OV-US 13 35630261 35630261 single base substitution A T missense_variant N363Y 1087A>T OV-US 13 35735998 35735998 single base substitution C T missense_variant R1325W 3973C>T OV-US 13 36124684 36124684 single base substitution G C missense_variant R12P 35G>C OV-US 13 36124684 36124684 single base substitution G C missense_variant R2216P 6647G>C OV-US 13 36124684 36124684 single base substitution G C missense_variant R2219P 6656G>C PACA-AU 13 35511619 35511619 single base substitution A T upstream_gene_variant PACA-AU 13 35521678 35521678 single base substitution G A intron_variant PACA-AU 13 35526063 35526063 single base substitution C T intron_variant PACA-AU 13 35529528 35529528 single base substitution C T intron_variant PACA-AU 13 35530529 35530529 single base substitution T G intron_variant PACA-AU 13 35531159 35531159 single base substitution T C intron_variant PACA-AU 13 35534480 35534480 single base substitution A G intron_variant PACA-AU 13 35541110 35541110 single base substitution T C intron_variant PACA-AU 13 35541496 35541496 single base substitution T A intron_variant PACA-AU 13 35543454 35543454 single base substitution A T intron_variant PACA-AU 13 35547023 35547023 single base substitution G A intron_variant PACA-AU 13 35550798 35550798 single base substitution T G intron_variant PACA-AU 13 35552116 35552116 single base substitution A T intron_variant PACA-AU 13 35560779 35560779 single base substitution G A intron_variant PACA-AU 13 35561440 35561440 single base substitution A C intron_variant PACA-AU 13 35561747 35561747 single base substitution C T intron_variant PACA-AU 13 35562603 35562603 single base substitution C T intron_variant PACA-AU 13 35566337 35566337 single base substitution G A intron_variant PACA-AU 13 35566361 35566361 single base substitution G A intron_variant PACA-AU 13 35567248 35567248 single base substitution C T intron_variant PACA-AU 13 35571498 35571498 single base substitution C T intron_variant PACA-AU 13 35572983 35572983 single base substitution G A intron_variant PACA-AU 13 35575103 35575103 single base substitution G T intron_variant PACA-AU 13 35579573 35579573 single base substitution A C intron_variant PACA-AU 13 35579663 35579663 single base substitution G T intron_variant PACA-AU 13 35584785 35584785 single base substitution C G intron_variant PACA-AU 13 35585143 35585143 single base substitution C T intron_variant PACA-AU 13 35585423 35585423 single base substitution A T intron_variant PACA-AU 13 35587863 35587863 single base substitution C T intron_variant PACA-AU 13 35592603 35592603 single base substitution G T intron_variant PACA-AU 13 35592794 35592794 single base substitution C T intron_variant PACA-AU 13 35593435 35593435 insertion of <=200bp - T intron_variant PACA-AU 13 35601569 35601569 single base substitution T A intron_variant PACA-AU 13 35606556 35606556 single base substitution T C intron_variant PACA-AU 13 35607242 35607242 single base substitution C A intron_variant PACA-AU 13 35607358 35607358 single base substitution A G intron_variant PACA-AU 13 35609302 35609302 single base substitution C G intron_variant PACA-AU 13 35615871 35615871 single base substitution G T intron_variant PACA-AU 13 35616356 35616356 single base substitution T C intron_variant PACA-AU 13 35616823 35616823 single base substitution A G intron_variant PACA-AU 13 35617522 35617522 single base substitution T A intron_variant PACA-AU 13 35617836 35617836 single base substitution T A intron_variant PACA-AU 13 35618953 35618953 insertion of <=200bp - AT intron_variant PACA-AU 13 35618964 35618964 single base substitution T G intron_variant PACA-AU 13 35618970 35618970 single base substitution G T intron_variant PACA-AU 13 35619881 35619881 single base substitution G T intron_variant PACA-AU 13 35621362 35621362 single base substitution G A intron_variant PACA-AU 13 35621635 35621635 single base substitution A G intron_variant PACA-AU 13 35631850 35631850 single base substitution T C intron_variant PACA-AU 13 35632215 35632215 single base substitution G A intron_variant PACA-AU 13 35635348 35635348 single base substitution G A intron_variant PACA-AU 13 35643342 35643342 single base substitution T C intron_variant PACA-AU 13 35643342 35643342 single base substitution T C upstream_gene_variant PACA-AU 13 35647229 35647229 single base substitution G A downstream_gene_variant PACA-AU 13 35647229 35647229 single base substitution G A intron_variant PACA-AU 13 35648671 35648671 single base substitution G A downstream_gene_variant PACA-AU 13 35648671 35648671 single base substitution G A intron_variant PACA-AU 13 35650072 35650072 deletion of <=200bp A - downstream_gene_variant PACA-AU 13 35650072 35650072 deletion of <=200bp A - intron_variant PACA-AU 13 35650602 35650602 single base substitution T G intron_variant PACA-AU 13 35653136 35653136 single base substitution C A intron_variant PACA-AU 13 35654676 35654702 deletion of <=200bp GCTCAGCTGGAAGAAGAAAATATTTTT - intron_variant PACA-AU 13 35656232 35656232 single base substitution T C intron_variant PACA-AU 13 35657512 35657512 single base substitution C T intron_variant PACA-AU 13 35662005 35662005 single base substitution A C intron_variant PACA-AU 13 35662327 35662327 single base substitution G T intron_variant PACA-AU 13 35662328 35662328 single base substitution G C intron_variant PACA-AU 13 35662545 35662545 single base substitution C T intron_variant PACA-AU 13 35666651 35666651 single base substitution T A intron_variant PACA-AU 13 35673108 35673108 single base substitution G A intron_variant PACA-AU 13 35674867 35674867 single base substitution T A intron_variant PACA-AU 13 35687718 35687718 single base substitution C A intron_variant PACA-AU 13 35687764 35687764 single base substitution A G intron_variant PACA-AU 13 35691511 35691511 single base substitution T A intron_variant PACA-AU 13 35695256 35695256 single base substitution T A intron_variant PACA-AU 13 35698814 35698814 single base substitution T C intron_variant PACA-AU 13 35709911 35709911 insertion of <=200bp - TA intron_variant PACA-AU 13 35711142 35711142 single base substitution G A intron_variant PACA-AU 13 35712621 35712621 single base substitution G A intron_variant PACA-AU 13 35712928 35712928 single base substitution T G intron_variant PACA-AU 13 35713897 35713897 single base substitution T G intron_variant PACA-AU 13 35719762 35719762 single base substitution G A intron_variant PACA-AU 13 35721508 35721508 single base substitution T G intron_variant PACA-AU 13 35721788 35721788 single base substitution G C intron_variant PACA-AU 13 35723400 35723400 single base substitution T G intron_variant PACA-AU 13 35726709 35726709 single base substitution C T intron_variant PACA-AU 13 35728980 35728980 single base substitution G C intron_variant PACA-AU 13 35732454 35732454 deletion of <=200bp A - intron_variant PACA-AU 13 35732815 35732815 single base substitution C T intron_variant PACA-AU 13 35737389 35737389 single base substitution G A intron_variant PACA-AU 13 35739831 35739831 single base substitution T C intron_variant PACA-AU 13 35740164 35740164 single base substitution T A intron_variant PACA-AU 13 35745338 35745338 single base substitution T C intron_variant PACA-AU 13 35763903 35763903 deletion of <=200bp T - intron_variant PACA-AU 13 35771330 35771330 single base substitution G A intron_variant PACA-AU 13 35771490 35771490 single base substitution G A intron_variant PACA-AU 13 35777736 35777736 single base substitution G A intron_variant PACA-AU 13 35781128 35781128 single base substitution G A intron_variant PACA-AU 13 35781468 35781468 single base substitution A G intron_variant PACA-AU 13 35784405 35784407 deletion of <=200bp CTT - intron_variant PACA-AU 13 35786340 35786340 single base substitution A G intron_variant PACA-AU 13 35789434 35789434 deletion of <=200bp T - intron_variant PACA-AU 13 35793605 35793605 single base substitution T A intron_variant PACA-AU 13 35794663 35794663 single base substitution C T intron_variant PACA-AU 13 35795516 35795516 single base substitution G T intron_variant PACA-AU 13 35797029 35797029 single base substitution G A intron_variant PACA-AU 13 35797882 35797882 single base substitution T A intron_variant PACA-AU 13 35800448 35800448 single base substitution G C intron_variant PACA-AU 13 35809073 35809073 insertion of <=200bp - GA intron_variant PACA-AU 13 35810707 35810707 single base substitution C G intron_variant PACA-AU 13 35811335 35811335 single base substitution T G intron_variant PACA-AU 13 35820115 35820115 insertion of <=200bp - T intron_variant PACA-AU 13 35821064 35821064 single base substitution C T intron_variant PACA-AU 13 35826136 35826136 single base substitution T C intron_variant PACA-AU 13 35826350 35826350 single base substitution T G intron_variant PACA-AU 13 35826948 35826948 single base substitution C T intron_variant PACA-AU 13 35827085 35827085 single base substitution T C intron_variant PACA-AU 13 35830636 35830636 single base substitution T C intron_variant PACA-AU 13 35832454 35832454 single base substitution G A intron_variant PACA-AU 13 35833482 35833482 single base substitution T A intron_variant PACA-AU 13 35834255 35834255 single base substitution T A intron_variant PACA-AU 13 35836624 35836624 single base substitution C G intron_variant PACA-AU 13 35838240 35838240 single base substitution A G intron_variant PACA-AU 13 35838991 35838991 single base substitution C T intron_variant PACA-AU 13 35847115 35847115 single base substitution G A intron_variant PACA-AU 13 35849459 35849459 deletion of <=200bp C - intron_variant PACA-AU 13 35851639 35851639 single base substitution T A intron_variant PACA-AU 13 35852229 35852229 single base substitution A T intron_variant PACA-AU 13 35852642 35852642 single base substitution C A intron_variant PACA-AU 13 35854411 35854411 single base substitution C A intron_variant PACA-AU 13 35858974 35858974 single base substitution A T intron_variant PACA-AU 13 35860071 35860071 single base substitution C T intron_variant PACA-AU 13 35860072 35860072 single base substitution G A intron_variant PACA-AU 13 35860674 35860674 single base substitution C T intron_variant PACA-AU 13 35862282 35862282 single base substitution G A intron_variant PACA-AU 13 35862655 35862655 deletion of <=200bp T - intron_variant PACA-AU 13 35863134 35863134 single base substitution G T intron_variant PACA-AU 13 35863135 35863135 single base substitution A T intron_variant PACA-AU 13 35863621 35863621 single base substitution C T intron_variant PACA-AU 13 35864746 35864746 single base substitution T C intron_variant PACA-AU 13 35864865 35864865 single base substitution G A intron_variant PACA-AU 13 35866767 35866767 single base substitution G C intron_variant PACA-AU 13 35868637 35868637 insertion of <=200bp - T intron_variant PACA-AU 13 35870924 35870924 single base substitution C A intron_variant PACA-AU 13 35874571 35874571 single base substitution T A intron_variant PACA-AU 13 35875222 35875222 single base substitution G A intron_variant PACA-AU 13 35878465 35878465 insertion of <=200bp - TC intron_variant PACA-AU 13 35878494 35878494 single base substitution G A intron_variant PACA-AU 13 35881953 35881953 single base substitution G C intron_variant PACA-AU 13 35882540 35882540 single base substitution G C intron_variant PACA-AU 13 35882667 35882667 single base substitution A G intron_variant PACA-AU 13 35882770 35882770 single base substitution C G intron_variant PACA-AU 13 35882772 35882772 single base substitution G T intron_variant PACA-AU 13 35884255 35884255 single base substitution C T intron_variant PACA-AU 13 35888183 35888183 single base substitution G A intron_variant PACA-AU 13 35891022 35891022 single base substitution T G intron_variant PACA-AU 13 35892368 35892368 single base substitution G A intron_variant PACA-AU 13 35895264 35895264 single base substitution G A intron_variant PACA-AU 13 35897670 35897670 single base substitution G T intron_variant PACA-AU 13 35900302 35900302 single base substitution A C intron_variant PACA-AU 13 35900303 35900303 single base substitution G T intron_variant PACA-AU 13 35903225 35903225 insertion of <=200bp - A intron_variant PACA-AU 13 35903910 35903910 single base substitution T C intron_variant PACA-AU 13 35908817 35908817 single base substitution T C intron_variant PACA-AU 13 35911334 35911334 single base substitution C A intron_variant PACA-AU 13 35923678 35923678 single base substitution C A intron_variant PACA-AU 13 35926424 35926424 single base substitution C A missense_variant T2045K 6134C>A PACA-AU 13 35926424 35926424 single base substitution C A missense_variant T2048K 6143C>A PACA-AU 13 35926589 35926589 single base substitution A T intron_variant PACA-AU 13 35928854 35928854 single base substitution G T intron_variant PACA-AU 13 35929348 35929348 single base substitution A C intron_variant PACA-AU 13 35929348 35929348 single base substitution A T intron_variant PACA-AU 13 35935497 35935497 single base substitution A G intron_variant PACA-AU 13 35950745 35950745 single base substitution T C intron_variant PACA-AU 13 35952260 35952260 single base substitution G A intron_variant PACA-AU 13 35954341 35954341 single base substitution G A intron_variant PACA-AU 13 35956503 35956503 single base substitution G T intron_variant PACA-AU 13 35958825 35958825 single base substitution G T intron_variant PACA-AU 13 35958851 35958851 single base substitution C T intron_variant PACA-AU 13 35959203 35959203 insertion of <=200bp - T intron_variant PACA-AU 13 35959977 35959977 insertion of <=200bp - GCTCACCA intron_variant PACA-AU 13 35961508 35961508 single base substitution C T intron_variant PACA-AU 13 35962339 35962339 single base substitution T C intron_variant PACA-AU 13 35963240 35963240 single base substitution C T intron_variant PACA-AU 13 35963534 35963534 single base substitution T C intron_variant PACA-AU 13 35965250 35965250 deletion of <=200bp A - intron_variant PACA-AU 13 35966634 35966634 single base substitution G T intron_variant PACA-AU 13 35968710 35968710 single base substitution T C intron_variant PACA-AU 13 35972752 35972752 single base substitution G A intron_variant PACA-AU 13 35975041 35975041 single base substitution C T intron_variant PACA-AU 13 35976607 35976607 single base substitution A T intron_variant PACA-AU 13 35980469 35980469 single base substitution G T intron_variant PACA-AU 13 35980564 35980564 deletion of <=200bp C - intron_variant PACA-AU 13 35983486 35983486 single base substitution A T intron_variant PACA-AU 13 35983612 35983612 single base substitution A T intron_variant PACA-AU 13 35989066 35989066 single base substitution C G intron_variant PACA-AU 13 35992625 35992625 single base substitution G A intron_variant PACA-AU 13 35992687 35992687 single base substitution C A intron_variant PACA-AU 13 35997284 35997284 single base substitution G C intron_variant PACA-AU 13 35998447 35998447 single base substitution T A intron_variant PACA-AU 13 36000287 36000287 single base substitution C A intron_variant PACA-AU 13 36001854 36001854 single base substitution G A intron_variant PACA-AU 13 36002148 36002148 single base substitution G T intron_variant PACA-AU 13 36009132 36009132 single base substitution G C intron_variant PACA-AU 13 36010793 36010793 single base substitution G T intron_variant PACA-AU 13 36015721 36015721 single base substitution C T intron_variant PACA-AU 13 36018527 36018527 single base substitution T A intron_variant PACA-AU 13 36019331 36019331 deletion of <=200bp T - intron_variant PACA-AU 13 36020267 36020267 single base substitution T C intron_variant PACA-AU 13 36020748 36020748 single base substitution G T intron_variant PACA-AU 13 36021422 36021422 single base substitution A C intron_variant PACA-AU 13 36021519 36021519 single base substitution C A intron_variant PACA-AU 13 36021555 36021555 single base substitution T A intron_variant PACA-AU 13 36023053 36023053 single base substitution G T intron_variant PACA-AU 13 36026354 36026354 single base substitution G T stop_gained E2141* 6421G>T PACA-AU 13 36026354 36026354 single base substitution G T stop_gained E2144* 6430G>T PACA-AU 13 36030706 36030706 deletion of <=200bp A - intron_variant PACA-AU 13 36032525 36032525 single base substitution T G intron_variant PACA-AU 13 36033001 36033001 single base substitution T C intron_variant PACA-AU 13 36033150 36033150 single base substitution C A intron_variant PACA-AU 13 36036495 36036495 single base substitution G T intron_variant PACA-AU 13 36037088 36037088 single base substitution C T intron_variant PACA-AU 13 36046090 36046090 single base substitution G A intron_variant PACA-AU 13 36046090 36046090 single base substitution G A upstream_gene_variant PACA-AU 13 36047599 36047599 single base substitution T A intron_variant PACA-AU 13 36047599 36047599 single base substitution T A upstream_gene_variant PACA-AU 13 36047896 36047896 single base substitution A G intron_variant PACA-AU 13 36047896 36047896 single base substitution A G upstream_gene_variant PACA-AU 13 36049250 36049250 single base substitution C T intron_variant PACA-AU 13 36049250 36049250 single base substitution C T upstream_gene_variant PACA-AU 13 36049373 36049373 single base substitution G A intron_variant PACA-AU 13 36049373 36049373 single base substitution G A upstream_gene_variant PACA-AU 13 36049662 36049662 single base substitution G A intron_variant PACA-AU 13 36049662 36049662 single base substitution G A upstream_gene_variant PACA-AU 13 36049720 36049720 single base substitution G A intron_variant PACA-AU 13 36049720 36049720 single base substitution G A upstream_gene_variant PACA-AU 13 36051190 36051190 single base substitution G A intron_variant PACA-AU 13 36052090 36052090 single base substitution A C intron_variant PACA-AU 13 36052782 36052782 single base substitution C T intron_variant PACA-AU 13 36055492 36055492 single base substitution G A intron_variant PACA-AU 13 36055761 36055761 single base substitution A C intron_variant PACA-AU 13 36056781 36056781 single base substitution C G intron_variant PACA-AU 13 36060160 36060160 single base substitution T A intron_variant PACA-AU 13 36061258 36061258 single base substitution A G intron_variant PACA-AU 13 36063347 36063347 single base substitution A G intron_variant PACA-AU 13 36064120 36064120 single base substitution G A intron_variant PACA-AU 13 36067899 36067899 single base substitution T C intron_variant PACA-AU 13 36070538 36070538 single base substitution G A intron_variant PACA-AU 13 36071526 36071526 single base substitution A T intron_variant PACA-AU 13 36072449 36072449 single base substitution C T intron_variant PACA-AU 13 36074972 36074972 single base substitution G A intron_variant PACA-AU 13 36076736 36076736 single base substitution G T intron_variant PACA-AU 13 36076737 36076737 single base substitution T A intron_variant PACA-AU 13 36076854 36076854 single base substitution A C intron_variant PACA-AU 13 36079084 36079084 deletion of <=200bp T - intron_variant PACA-AU 13 36080347 36080347 single base substitution G A intron_variant PACA-AU 13 36081226 36081226 single base substitution G C intron_variant PACA-AU 13 36081445 36081445 deletion of <=200bp C - intron_variant PACA-AU 13 36082058 36082058 single base substitution C T intron_variant PACA-AU 13 36082211 36082211 single base substitution G T intron_variant PACA-AU 13 36082485 36082485 single base substitution G C intron_variant PACA-AU 13 36083388 36083388 single base substitution T G intron_variant PACA-AU 13 36088666 36088666 single base substitution T C intron_variant PACA-AU 13 36091444 36091444 single base substitution G A intron_variant PACA-AU 13 36097054 36097054 single base substitution C T intron_variant PACA-AU 13 36102632 36102632 single base substitution T C intron_variant PACA-AU 13 36103563 36103563 single base substitution G T intron_variant PACA-AU 13 36103741 36103741 single base substitution A C intron_variant PACA-AU 13 36105453 36105453 single base substitution G A intron_variant PACA-AU 13 36106375 36106375 single base substitution G C intron_variant PACA-AU 13 36106913 36106913 single base substitution G A intron_variant PACA-AU 13 36109518 36109518 single base substitution A T intron_variant PACA-AU 13 36112604 36112604 single base substitution A G intron_variant PACA-AU 13 36115282 36115282 single base substitution C T intron_variant PACA-AU 13 36119150 36119150 single base substitution C T intron_variant PACA-AU 13 36124177 36124177 single base substitution A C intron_variant PACA-AU 13 36126437 36126437 insertion of <=200bp - T intron_variant PACA-AU 13 36128271 36128271 single base substitution T G intron_variant PACA-AU 13 36129128 36129128 single base substitution A G missense_variant I2268V 6802A>G PACA-AU 13 36129128 36129128 single base substitution A G missense_variant I2271V 6811A>G PACA-AU 13 36129128 36129128 single base substitution A G missense_variant I64V 190A>G PACA-AU 13 36130953 36130953 single base substitution C T intron_variant PACA-AU 13 36132523 36132523 single base substitution C T intron_variant PACA-AU 13 36132721 36132721 single base substitution T A intron_variant PACA-AU 13 36134613 36134613 single base substitution C T intron_variant PACA-AU 13 36138511 36138511 single base substitution T G intron_variant PACA-AU 13 36140076 36140076 single base substitution G A intron_variant PACA-AU 13 36143578 36143578 single base substitution A T intron_variant PACA-AU 13 36146905 36146905 single base substitution C G intron_variant PACA-AU 13 36156366 36156366 single base substitution C T intron_variant PACA-AU 13 36157615 36157615 single base substitution G C intron_variant PACA-AU 13 36160743 36160743 single base substitution A C intron_variant PACA-AU 13 36162290 36162290 single base substitution A G intron_variant PACA-AU 13 36162290 36162290 single base substitution A G upstream_gene_variant PACA-AU 13 36163570 36163570 single base substitution G A intron_variant PACA-AU 13 36163570 36163570 single base substitution G A upstream_gene_variant PACA-AU 13 36164781 36164781 single base substitution C G intron_variant PACA-AU 13 36164781 36164781 single base substitution C G upstream_gene_variant PACA-AU 13 36171893 36171893 single base substitution G A intron_variant PACA-AU 13 36174257 36174257 single base substitution G T intron_variant PACA-AU 13 36183526 36183526 single base substitution C T intron_variant PACA-AU 13 36184546 36184546 deletion of <=200bp A - intron_variant PACA-AU 13 36187170 36187170 single base substitution A G intron_variant PACA-AU 13 36189831 36189831 single base substitution A G intron_variant PACA-AU 13 36191156 36191156 single base substitution C G intron_variant PACA-AU 13 36192877 36192877 single base substitution A T intron_variant PACA-AU 13 36194254 36194254 single base substitution C G intron_variant PACA-AU 13 36195774 36195774 single base substitution C T intron_variant PACA-AU 13 36197170 36197170 single base substitution C A intron_variant PACA-AU 13 36200686 36200686 single base substitution A T intron_variant PACA-AU 13 36205316 36205316 single base substitution G T intron_variant PACA-AU 13 36206231 36206231 deletion of <=200bp T - intron_variant PACA-AU 13 36206619 36206619 single base substitution C A intron_variant PACA-AU 13 36207406 36207406 single base substitution A T intron_variant PACA-AU 13 36207905 36207905 single base substitution G T intron_variant PACA-AU 13 36208340 36208340 single base substitution C T intron_variant PACA-AU 13 36212838 36212838 single base substitution T A intron_variant PACA-AU 13 36214338 36214338 single base substitution C A intron_variant PACA-AU 13 36214480 36214480 single base substitution C G intron_variant PACA-AU 13 36214637 36214637 single base substitution G A intron_variant PACA-AU 13 36218005 36218005 single base substitution C T intron_variant PACA-AU 13 36221998 36221998 single base substitution G A intron_variant PACA-AU 13 36223290 36223290 single base substitution C T intron_variant PACA-AU 13 36224753 36224753 single base substitution C T intron_variant PACA-AU 13 36226278 36226278 single base substitution G T intron_variant PACA-AU 13 36227258 36227258 single base substitution G A intron_variant PACA-AU 13 36233263 36233270 deletion of <=200bp GTATTAAA - intron_variant PACA-AU 13 36234293 36234293 single base substitution C G intron_variant PACA-AU 13 36236491 36236491 single base substitution G A intron_variant PACA-AU 13 36239884 36239884 single base substitution C A intron_variant PACA-AU 13 36240905 36240905 single base substitution A T intron_variant PACA-AU 13 36240905 36240905 single base substitution A T upstream_gene_variant PACA-AU 13 36241464 36241464 single base substitution G A intron_variant PACA-AU 13 36241464 36241464 single base substitution G A upstream_gene_variant PACA-AU 13 36245096 36245096 single base substitution C T missense_variant R2934W 8800C>T PACA-AU 13 36245096 36245096 single base substitution C T missense_variant R2937W 8809C>T PACA-AU 13 36245096 36245096 single base substitution C T missense_variant R515W 1543C>T PACA-AU 13 36245096 36245096 single base substitution C T missense_variant R730W 2188C>T PACA-AU 13 36245096 36245096 single base substitution C T upstream_gene_variant PACA-AU 13 36245432 36245432 insertion of <=200bp - T 3_prime_UTR_variant PACA-AU 13 36245432 36245432 insertion of <=200bp - T intron_variant PACA-AU 13 36248388 36248388 single base substitution G A downstream_gene_variant PACA-AU 13 36250134 36250134 single base substitution G A downstream_gene_variant PACA-AU 13 36250759 36250759 single base substitution C A downstream_gene_variant PACA-CA 13 35513244 35513244 single base substitution C T upstream_gene_variant PACA-CA 13 35520804 35520804 single base substitution T C intron_variant PACA-CA 13 35522105 35522105 single base substitution C T intron_variant PACA-CA 13 35523579 35523579 single base substitution C A intron_variant PACA-CA 13 35524787 35524787 single base substitution C G intron_variant PACA-CA 13 35525405 35525405 single base substitution T C intron_variant PACA-CA 13 35528057 35528057 single base substitution C T intron_variant PACA-CA 13 35528742 35528742 single base substitution C T intron_variant PACA-CA 13 35529234 35529234 single base substitution G A intron_variant PACA-CA 13 35529594 35529594 single base substitution T C intron_variant PACA-CA 13 35530154 35530154 single base substitution C A intron_variant PACA-CA 13 35531159 35531159 single base substitution T C intron_variant PACA-CA 13 35531173 35531173 insertion of <=200bp - AT intron_variant PACA-CA 13 35531173 35531173 single base substitution C T intron_variant PACA-CA 13 35533206 35533206 insertion of <=200bp - A intron_variant PACA-CA 13 35533287 35533287 single base substitution T C intron_variant PACA-CA 13 35534133 35534133 single base substitution A T intron_variant PACA-CA 13 35536088 35536088 deletion of <=200bp A - intron_variant PACA-CA 13 35539882 35539882 single base substitution C T intron_variant PACA-CA 13 35540771 35540771 single base substitution T C intron_variant PACA-CA 13 35542483 35542483 deletion of <=200bp T - intron_variant PACA-CA 13 35543454 35543454 single base substitution A T intron_variant PACA-CA 13 35543907 35543907 insertion of <=200bp - A intron_variant PACA-CA 13 35544384 35544384 insertion of <=200bp - T intron_variant PACA-CA 13 35545525 35545525 single base substitution T A intron_variant PACA-CA 13 35548438 35548438 single base substitution G A intron_variant PACA-CA 13 35550868 35550868 single base substitution C A intron_variant PACA-CA 13 35552117 35552117 single base substitution T A intron_variant PACA-CA 13 35554074 35554074 single base substitution G T intron_variant PACA-CA 13 35554263 35554263 single base substitution G C intron_variant PACA-CA 13 35554555 35554555 deletion of <=200bp T - intron_variant PACA-CA 13 35558346 35558346 single base substitution A T intron_variant PACA-CA 13 35559767 35559767 single base substitution G C intron_variant PACA-CA 13 35560160 35560160 single base substitution G T intron_variant PACA-CA 13 35560688 35560688 single base substitution C G intron_variant PACA-CA 13 35560694 35560694 single base substitution G A intron_variant PACA-CA 13 35562344 35562344 single base substitution G A intron_variant PACA-CA 13 35562480 35562480 single base substitution C T intron_variant PACA-CA 13 35562723 35562723 single base substitution G A intron_variant PACA-CA 13 35566029 35566032 deletion of <=200bp TGAC - intron_variant PACA-CA 13 35566037 35566037 single base substitution C G intron_variant PACA-CA 13 35566337 35566337 single base substitution G A intron_variant PACA-CA 13 35566355 35566355 single base substitution G A intron_variant PACA-CA 13 35566399 35566399 insertion of <=200bp - TATT intron_variant PACA-CA 13 35566400 35566400 insertion of <=200bp - A intron_variant PACA-CA 13 35566756 35566756 single base substitution G A intron_variant PACA-CA 13 35569244 35569244 single base substitution A G intron_variant PACA-CA 13 35572268 35572268 single base substitution A G intron_variant PACA-CA 13 35573059 35573059 single base substitution C A intron_variant PACA-CA 13 35573072 35573072 single base substitution C G intron_variant PACA-CA 13 35573742 35573742 single base substitution T A intron_variant PACA-CA 13 35579236 35579236 single base substitution C T intron_variant PACA-CA 13 35580832 35580832 single base substitution G A intron_variant PACA-CA 13 35581411 35581411 deletion of <=200bp T - intron_variant PACA-CA 13 35581797 35581797 single base substitution T A intron_variant PACA-CA 13 35581859 35581859 single base substitution A G intron_variant PACA-CA 13 35582155 35582155 single base substitution T C intron_variant PACA-CA 13 35584531 35584531 single base substitution A G intron_variant PACA-CA 13 35586034 35586034 single base substitution A T intron_variant PACA-CA 13 35587885 35587885 single base substitution C T intron_variant PACA-CA 13 35590450 35590450 single base substitution C T intron_variant PACA-CA 13 35591836 35591836 single base substitution A G intron_variant PACA-CA 13 35592277 35592277 single base substitution G A intron_variant PACA-CA 13 35594527 35594527 single base substitution T G intron_variant PACA-CA 13 35594568 35594568 single base substitution C T intron_variant PACA-CA 13 35594738 35594738 single base substitution G A intron_variant PACA-CA 13 35596437 35596437 single base substitution C T intron_variant PACA-CA 13 35598535 35598535 single base substitution G A intron_variant PACA-CA 13 35599037 35599037 single base substitution G A intron_variant PACA-CA 13 35600057 35600057 single base substitution C A intron_variant PACA-CA 13 35600068 35600068 single base substitution T C intron_variant PACA-CA 13 35601232 35601232 single base substitution G A intron_variant PACA-CA 13 35601885 35601885 single base substitution T C intron_variant PACA-CA 13 35602340 35602340 single base substitution T G intron_variant PACA-CA 13 35603783 35603783 single base substitution G A intron_variant PACA-CA 13 35605600 35605600 single base substitution G T intron_variant PACA-CA 13 35606015 35606015 single base substitution T G intron_variant PACA-CA 13 35606885 35606885 single base substitution G A intron_variant PACA-CA 13 35607899 35607899 single base substitution G T intron_variant PACA-CA 13 35608329 35608329 single base substitution C T intron_variant PACA-CA 13 35609528 35609528 deletion of <=200bp T - intron_variant PACA-CA 13 35610558 35610558 single base substitution A C intron_variant PACA-CA 13 35618142 35618142 single base substitution A C intron_variant PACA-CA 13 35618964 35618964 single base substitution T G intron_variant PACA-CA 13 35619475 35619475 single base substitution T C synonymous_variant L220L 660T>C PACA-CA 13 35622531 35622531 single base substitution G A intron_variant PACA-CA 13 35624134 35624134 single base substitution C T intron_variant PACA-CA 13 35624135 35624135 single base substitution T C intron_variant PACA-CA 13 35626498 35626498 single base substitution C G intron_variant PACA-CA 13 35629031 35629031 single base substitution T G intron_variant PACA-CA 13 35630454 35630454 deletion of <=200bp A - intron_variant PACA-CA 13 35630924 35630924 single base substitution G A intron_variant PACA-CA 13 35635209 35635209 single base substitution C T intron_variant PACA-CA 13 35635468 35635468 insertion of <=200bp - A intron_variant PACA-CA 13 35640364 35640364 single base substitution T C intron_variant PACA-CA 13 35640364 35640364 single base substitution T C upstream_gene_variant PACA-CA 13 35648671 35648671 single base substitution G A downstream_gene_variant PACA-CA 13 35648671 35648671 single base substitution G A intron_variant PACA-CA 13 35649038 35649038 single base substitution G A downstream_gene_variant PACA-CA 13 35649038 35649038 single base substitution G A intron_variant PACA-CA 13 35650138 35650138 insertion of <=200bp - AAC intron_variant PACA-CA 13 35650320 35650320 single base substitution T G intron_variant PACA-CA 13 35652903 35652903 single base substitution C T intron_variant PACA-CA 13 35653325 35653325 single base substitution C T intron_variant PACA-CA 13 35655771 35655771 single base substitution T A intron_variant PACA-CA 13 35656161 35656161 single base substitution G A intron_variant PACA-CA 13 35656674 35656674 single base substitution G T intron_variant PACA-CA 13 35657262 35657262 single base substitution C A intron_variant PACA-CA 13 35658311 35658311 single base substitution G A intron_variant PACA-CA 13 35661125 35661125 single base substitution G A intron_variant PACA-CA 13 35661720 35661720 insertion of <=200bp - T intron_variant PACA-CA 13 35661787 35661787 single base substitution C T intron_variant PACA-CA 13 35661831 35661831 single base substitution T A intron_variant PACA-CA 13 35662801 35662801 insertion of <=200bp - A intron_variant PACA-CA 13 35664307 35664307 single base substitution G T intron_variant PACA-CA 13 35666419 35666419 single base substitution C T intron_variant PACA-CA 13 35668515 35668515 single base substitution G A intron_variant PACA-CA 13 35670302 35670302 single base substitution C T intron_variant PACA-CA 13 35673059 35673059 single base substitution C T intron_variant PACA-CA 13 35673480 35673480 single base substitution C T intron_variant PACA-CA 13 35673740 35673740 single base substitution C T intron_variant PACA-CA 13 35674322 35674322 single base substitution A C intron_variant PACA-CA 13 35675096 35675096 single base substitution T C intron_variant PACA-CA 13 35675753 35675753 single base substitution C T intron_variant PACA-CA 13 35675820 35675820 deletion of <=200bp A - intron_variant PACA-CA 13 35680917 35680917 single base substitution A T intron_variant PACA-CA 13 35682050 35682050 single base substitution C T intron_variant PACA-CA 13 35682355 35682355 single base substitution T G intron_variant PACA-CA 13 35684660 35684660 single base substitution C A intron_variant PACA-CA 13 35686562 35686562 single base substitution A G intron_variant PACA-CA 13 35690864 35690864 single base substitution C T intron_variant PACA-CA 13 35692578 35692578 single base substitution T C missense_variant M737T 2210T>C PACA-CA 13 35694487 35694487 single base substitution G A intron_variant PACA-CA 13 35695408 35695408 insertion of <=200bp - T intron_variant PACA-CA 13 35698340 35698340 single base substitution A G intron_variant PACA-CA 13 35701010 35701010 single base substitution G A intron_variant PACA-CA 13 35702323 35702323 single base substitution G A intron_variant PACA-CA 13 35702637 35702637 single base substitution T A intron_variant PACA-CA 13 35707846 35707846 single base substitution G A intron_variant PACA-CA 13 35711165 35711165 single base substitution T C intron_variant PACA-CA 13 35711356 35711356 single base substitution G A intron_variant PACA-CA 13 35713691 35713691 single base substitution C A intron_variant PACA-CA 13 35716194 35716194 single base substitution G C intron_variant PACA-CA 13 35717490 35717490 single base substitution C A intron_variant PACA-CA 13 35718040 35718040 single base substitution C A intron_variant PACA-CA 13 35718580 35718580 single base substitution C T intron_variant PACA-CA 13 35721584 35721584 single base substitution A T intron_variant PACA-CA 13 35728591 35728591 single base substitution A G intron_variant PACA-CA 13 35728658 35728658 single base substitution C G intron_variant PACA-CA 13 35731267 35731267 single base substitution A G missense_variant I902V 2704A>G PACA-CA 13 35733323 35733323 single base substitution T A missense_variant D1005E 3015T>A PACA-CA 13 35735062 35735062 single base substitution G C intron_variant PACA-CA 13 35735853 35735853 deletion of <=200bp G - intron_variant PACA-CA 13 35735929 35735929 single base substitution C T stop_gained R1302* 3904C>T PACA-CA 13 35736034 35736034 single base substitution T C missense_variant S1337P 4009T>C PACA-CA 13 35737522 35737522 single base substitution G C intron_variant PACA-CA 13 35741240 35741240 single base substitution G A intron_variant PACA-CA 13 35742235 35742235 single base substitution T G intron_variant PACA-CA 13 35743382 35743382 single base substitution G A intron_variant PACA-CA 13 35745236 35745236 single base substitution A G intron_variant PACA-CA 13 35745236 35745236 single base substitution A G splice_region_variant PACA-CA 13 35745371 35745371 single base substitution A T intron_variant PACA-CA 13 35745609 35745609 single base substitution A C intron_variant PACA-CA 13 35747511 35747511 single base substitution G A intron_variant PACA-CA 13 35749538 35749538 single base substitution A G intron_variant PACA-CA 13 35752869 35752869 deletion of <=200bp T - intron_variant PACA-CA 13 35754861 35754861 single base substitution C T intron_variant PACA-CA 13 35754881 35754881 single base substitution G A intron_variant PACA-CA 13 35757130 35757130 single base substitution T C intron_variant PACA-CA 13 35758867 35758867 single base substitution G C intron_variant PACA-CA 13 35760277 35760277 deletion of <=200bp C - intron_variant PACA-CA 13 35760410 35760410 single base substitution C A intron_variant PACA-CA 13 35771346 35771346 single base substitution T G intron_variant PACA-CA 13 35771781 35771781 single base substitution T C intron_variant PACA-CA 13 35773391 35773391 single base substitution A T intron_variant PACA-CA 13 35774515 35774515 insertion of <=200bp - TA intron_variant PACA-CA 13 35774901 35774901 single base substitution A C intron_variant PACA-CA 13 35776865 35776865 single base substitution C A intron_variant PACA-CA 13 35777269 35777269 single base substitution T A intron_variant PACA-CA 13 35778089 35778089 single base substitution T G intron_variant PACA-CA 13 35779030 35779030 insertion of <=200bp - T intron_variant PACA-CA 13 35782096 35782096 single base substitution G A intron_variant PACA-CA 13 35784146 35784146 single base substitution T C intron_variant PACA-CA 13 35785273 35785273 single base substitution C T stop_gained Q1866* 5596C>T PACA-CA 13 35785273 35785273 single base substitution C T stop_gained Q1869* 5605C>T PACA-CA 13 35791310 35791310 single base substitution C T intron_variant PACA-CA 13 35796234 35796234 single base substitution C T intron_variant PACA-CA 13 35796696 35796696 insertion of <=200bp - T intron_variant PACA-CA 13 35796813 35796813 single base substitution C T intron_variant PACA-CA 13 35798908 35798908 single base substitution T C intron_variant PACA-CA 13 35799106 35799106 single base substitution T C intron_variant PACA-CA 13 35799548 35799548 single base substitution T G intron_variant PACA-CA 13 35799608 35799608 single base substitution C G intron_variant PACA-CA 13 35799619 35799619 single base substitution C T intron_variant PACA-CA 13 35799772 35799772 single base substitution T C intron_variant PACA-CA 13 35800438 35800438 single base substitution C T intron_variant PACA-CA 13 35802773 35802773 single base substitution G A intron_variant PACA-CA 13 35803192 35803192 single base substitution G A intron_variant PACA-CA 13 35803881 35803881 single base substitution G A intron_variant PACA-CA 13 35804371 35804371 single base substitution A T intron_variant PACA-CA 13 35808325 35808325 single base substitution T G intron_variant PACA-CA 13 35812272 35812272 single base substitution T C intron_variant PACA-CA 13 35813798 35813798 single base substitution T C intron_variant PACA-CA 13 35814058 35814058 insertion of <=200bp - ATCAAATG intron_variant PACA-CA 13 35814411 35814411 single base substitution G A intron_variant PACA-CA 13 35815193 35815193 single base substitution T C intron_variant PACA-CA 13 35816119 35816119 single base substitution C T intron_variant PACA-CA 13 35816383 35816383 single base substitution G A intron_variant PACA-CA 13 35816478 35816478 single base substitution G T intron_variant PACA-CA 13 35817402 35817402 single base substitution T G intron_variant PACA-CA 13 35818382 35818382 single base substitution T A intron_variant PACA-CA 13 35818536 35818536 single base substitution G C intron_variant PACA-CA 13 35818988 35818988 insertion of <=200bp - T intron_variant PACA-CA 13 35819589 35819589 single base substitution T C intron_variant PACA-CA 13 35821142 35821142 single base substitution T C intron_variant PACA-CA 13 35821345 35821345 single base substitution G A intron_variant PACA-CA 13 35822030 35822030 single base substitution G A intron_variant PACA-CA 13 35823175 35823175 single base substitution A G intron_variant PACA-CA 13 35823461 35823461 insertion of <=200bp - A intron_variant PACA-CA 13 35826044 35826044 single base substitution T G intron_variant PACA-CA 13 35829598 35829598 single base substitution G A intron_variant PACA-CA 13 35831269 35831269 single base substitution G T intron_variant PACA-CA 13 35832366 35832366 single base substitution G A intron_variant PACA-CA 13 35834468 35834468 single base substitution A G intron_variant PACA-CA 13 35834608 35834608 single base substitution G T intron_variant PACA-CA 13 35837449 35837449 single base substitution T A intron_variant PACA-CA 13 35843673 35843673 single base substitution G T intron_variant PACA-CA 13 35844886 35844886 single base substitution C A intron_variant PACA-CA 13 35845250 35845250 single base substitution T G intron_variant PACA-CA 13 35846167 35846167 single base substitution G A intron_variant PACA-CA 13 35849864 35849864 single base substitution T G intron_variant PACA-CA 13 35852179 35852179 single base substitution G A intron_variant PACA-CA 13 35854334 35854334 single base substitution C T intron_variant PACA-CA 13 35854518 35854518 single base substitution T G intron_variant PACA-CA 13 35857354 35857354 deletion of <=200bp A - intron_variant PACA-CA 13 35858031 35858031 single base substitution A T intron_variant PACA-CA 13 35858201 35858201 single base substitution T G intron_variant PACA-CA 13 35858500 35858500 insertion of <=200bp - T intron_variant PACA-CA 13 35860519 35860519 single base substitution C T intron_variant PACA-CA 13 35862390 35862390 deletion of <=200bp T - intron_variant PACA-CA 13 35862738 35862738 single base substitution A T intron_variant PACA-CA 13 35862792 35862792 single base substitution G T intron_variant PACA-CA 13 35863502 35863502 single base substitution T C intron_variant PACA-CA 13 35864271 35864271 single base substitution C T intron_variant PACA-CA 13 35865719 35865719 single base substitution G A intron_variant PACA-CA 13 35867530 35867530 single base substitution G A intron_variant PACA-CA 13 35868558 35868558 single base substitution A C intron_variant PACA-CA 13 35869016 35869016 single base substitution G A intron_variant PACA-CA 13 35869205 35869205 deletion of <=200bp A - intron_variant PACA-CA 13 35871259 35871259 single base substitution T C intron_variant PACA-CA 13 35872551 35872551 single base substitution T G intron_variant PACA-CA 13 35874460 35874460 insertion of <=200bp - A intron_variant PACA-CA 13 35875415 35875415 single base substitution C T intron_variant PACA-CA 13 35875443 35875443 insertion of <=200bp - T intron_variant PACA-CA 13 35875956 35875956 single base substitution C A intron_variant PACA-CA 13 35876275 35876275 single base substitution C T intron_variant PACA-CA 13 35878319 35878319 single base substitution C T intron_variant PACA-CA 13 35880705 35880705 single base substitution G A intron_variant PACA-CA 13 35881066 35881066 single base substitution T G intron_variant PACA-CA 13 35881389 35881389 single base substitution A T intron_variant PACA-CA 13 35882866 35882866 single base substitution A T intron_variant PACA-CA 13 35884985 35884985 single base substitution G A intron_variant PACA-CA 13 35887788 35887788 single base substitution G A intron_variant PACA-CA 13 35888212 35888212 single base substitution G T intron_variant PACA-CA 13 35891723 35891723 single base substitution G A intron_variant PACA-CA 13 35895867 35895867 single base substitution A C intron_variant PACA-CA 13 35896268 35896268 single base substitution C A intron_variant PACA-CA 13 35896318 35896318 single base substitution C A intron_variant PACA-CA 13 35899842 35899842 single base substitution G A intron_variant PACA-CA 13 35902491 35902491 deletion of <=200bp A - intron_variant PACA-CA 13 35903169 35903169 single base substitution G C intron_variant PACA-CA 13 35904021 35904021 single base substitution C T intron_variant PACA-CA 13 35905714 35905714 single base substitution T C intron_variant PACA-CA 13 35907976 35907976 single base substitution T C intron_variant PACA-CA 13 35908063 35908063 single base substitution T C intron_variant PACA-CA 13 35908140 35908140 single base substitution C G intron_variant PACA-CA 13 35910081 35910081 single base substitution A C intron_variant PACA-CA 13 35916335 35916335 single base substitution G A intron_variant PACA-CA 13 35918114 35918114 single base substitution G A intron_variant PACA-CA 13 35918847 35918847 single base substitution G T intron_variant PACA-CA 13 35920775 35920775 single base substitution G T intron_variant PACA-CA 13 35921448 35921448 deletion of <=200bp A - intron_variant PACA-CA 13 35924687 35924687 single base substitution G T intron_variant PACA-CA 13 35926479 35926479 single base substitution G A intron_variant PACA-CA 13 35926822 35926822 single base substitution T C intron_variant PACA-CA 13 35927617 35927617 single base substitution G A intron_variant PACA-CA 13 35930194 35930194 single base substitution G T intron_variant PACA-CA 13 35931191 35931191 single base substitution A G intron_variant PACA-CA 13 35933023 35933023 single base substitution G A intron_variant PACA-CA 13 35938001 35938001 single base substitution G T intron_variant PACA-CA 13 35938032 35938032 single base substitution A T intron_variant PACA-CA 13 35941119 35941119 deletion of <=200bp A - intron_variant PACA-CA 13 35942938 35942938 single base substitution T C intron_variant PACA-CA 13 35950031 35950031 single base substitution A T intron_variant PACA-CA 13 35950803 35950803 single base substitution T G intron_variant PACA-CA 13 35951236 35951236 single base substitution G T intron_variant PACA-CA 13 35952297 35952297 single base substitution C T intron_variant PACA-CA 13 35953548 35953548 single base substitution C A intron_variant PACA-CA 13 35955891 35955891 single base substitution C A intron_variant PACA-CA 13 35956058 35956058 single base substitution A T intron_variant PACA-CA 13 35958461 35958461 single base substitution T C intron_variant PACA-CA 13 35958463 35958463 single base substitution C A intron_variant PACA-CA 13 35958953 35958953 single base substitution G A intron_variant PACA-CA 13 35960656 35960656 single base substitution C A intron_variant PACA-CA 13 35961508 35961508 single base substitution C T intron_variant PACA-CA 13 35963450 35963450 single base substitution T A intron_variant PACA-CA 13 35964114 35964114 insertion of <=200bp - TGTGTGTA intron_variant PACA-CA 13 35964744 35964744 single base substitution G T intron_variant PACA-CA 13 35965885 35965885 single base substitution A G intron_variant PACA-CA 13 35966922 35966922 deletion of <=200bp T - intron_variant PACA-CA 13 35969602 35969602 single base substitution A T intron_variant PACA-CA 13 35969775 35969775 single base substitution C G intron_variant PACA-CA 13 35970890 35970890 single base substitution T A intron_variant PACA-CA 13 35971984 35971984 single base substitution T G intron_variant PACA-CA 13 35974473 35974473 single base substitution A G intron_variant PACA-CA 13 35976964 35976964 single base substitution G C intron_variant PACA-CA 13 35982453 35982453 single base substitution G A intron_variant PACA-CA 13 35987021 35987021 single base substitution A C intron_variant PACA-CA 13 35987605 35987605 single base substitution C T intron_variant PACA-CA 13 35988475 35988475 single base substitution G A intron_variant PACA-CA 13 35990071 35990071 single base substitution T G intron_variant PACA-CA 13 35990904 35990904 single base substitution G T intron_variant PACA-CA 13 35992004 35992004 single base substitution T G intron_variant PACA-CA 13 35993070 35993070 single base substitution T A intron_variant PACA-CA 13 35993537 35993537 single base substitution G A intron_variant PACA-CA 13 35993727 35993727 single base substitution G A intron_variant PACA-CA 13 35995169 35995169 single base substitution T C intron_variant PACA-CA 13 35995249 35995249 single base substitution G A intron_variant PACA-CA 13 35995359 35995359 single base substitution C T intron_variant PACA-CA 13 35996285 35996285 single base substitution T A intron_variant PACA-CA 13 35996806 35996806 single base substitution T C intron_variant PACA-CA 13 36004421 36004421 single base substitution C A intron_variant PACA-CA 13 36004877 36004877 single base substitution T G intron_variant PACA-CA 13 36007095 36007095 single base substitution T G intron_variant PACA-CA 13 36009053 36009053 single base substitution G C intron_variant PACA-CA 13 36010793 36010793 single base substitution G A intron_variant PACA-CA 13 36010890 36010890 single base substitution T C intron_variant PACA-CA 13 36011754 36011754 single base substitution C T intron_variant PACA-CA 13 36013030 36013030 single base substitution T C intron_variant PACA-CA 13 36013265 36013265 single base substitution T A intron_variant PACA-CA 13 36016644 36016644 single base substitution T A intron_variant PACA-CA 13 36019350 36019350 single base substitution G A intron_variant PACA-CA 13 36019955 36019955 single base substitution G A intron_variant PACA-CA 13 36025665 36025665 single base substitution G A intron_variant PACA-CA 13 36026575 36026575 single base substitution T C intron_variant PACA-CA 13 36028532 36028532 single base substitution G A intron_variant PACA-CA 13 36029056 36029056 single base substitution C T intron_variant PACA-CA 13 36032211 36032211 single base substitution T C intron_variant PACA-CA 13 36032890 36032890 single base substitution G A intron_variant PACA-CA 13 36036612 36036612 single base substitution A G intron_variant PACA-CA 13 36037592 36037592 single base substitution C T intron_variant PACA-CA 13 36039668 36039668 single base substitution G A intron_variant PACA-CA 13 36042467 36042467 insertion of <=200bp - A intron_variant PACA-CA 13 36043781 36043781 single base substitution A G intron_variant PACA-CA 13 36045340 36045340 single base substitution G T intron_variant PACA-CA 13 36046057 36046057 single base substitution G A intron_variant PACA-CA 13 36046057 36046057 single base substitution G A upstream_gene_variant PACA-CA 13 36047330 36047330 single base substitution A T intron_variant PACA-CA 13 36047330 36047330 single base substitution A T upstream_gene_variant PACA-CA 13 36049960 36049960 single base substitution G A intron_variant PACA-CA 13 36049960 36049960 single base substitution G A upstream_gene_variant PACA-CA 13 36050409 36050409 single base substitution C T intron_variant PACA-CA 13 36050409 36050409 single base substitution C T upstream_gene_variant PACA-CA 13 36050601 36050601 single base substitution G A intron_variant PACA-CA 13 36050601 36050601 single base substitution G A upstream_gene_variant PACA-CA 13 36051755 36051755 single base substitution A C intron_variant PACA-CA 13 36052088 36052088 single base substitution T C intron_variant PACA-CA 13 36052129 36052129 single base substitution T G intron_variant PACA-CA 13 36052420 36052420 single base substitution T C intron_variant PACA-CA 13 36053509 36053509 single base substitution C T intron_variant PACA-CA 13 36054102 36054102 single base substitution T A intron_variant PACA-CA 13 36054622 36054622 insertion of <=200bp - T intron_variant PACA-CA 13 36060276 36060276 single base substitution G T intron_variant PACA-CA 13 36060823 36060823 single base substitution A T intron_variant PACA-CA 13 36064544 36064544 single base substitution C G intron_variant PACA-CA 13 36065439 36065439 single base substitution G A intron_variant PACA-CA 13 36065774 36065774 single base substitution C T intron_variant PACA-CA 13 36070415 36070415 single base substitution T C intron_variant PACA-CA 13 36073398 36073398 single base substitution T C intron_variant PACA-CA 13 36075010 36075010 single base substitution A G intron_variant PACA-CA 13 36075972 36075972 single base substitution G A intron_variant PACA-CA 13 36079233 36079233 single base substitution A T intron_variant PACA-CA 13 36080145 36080145 single base substitution C T intron_variant PACA-CA 13 36082143 36082143 single base substitution G T intron_variant PACA-CA 13 36083019 36083019 single base substitution G A intron_variant PACA-CA 13 36084695 36084695 single base substitution A T intron_variant PACA-CA 13 36085239 36085239 single base substitution C T intron_variant PACA-CA 13 36086739 36086739 single base substitution C T intron_variant PACA-CA 13 36087975 36087975 single base substitution A G intron_variant PACA-CA 13 36089018 36089018 single base substitution G A intron_variant PACA-CA 13 36091876 36091876 single base substitution A C intron_variant PACA-CA 13 36092964 36092964 single base substitution G A intron_variant PACA-CA 13 36093497 36093497 single base substitution A C intron_variant PACA-CA 13 36093780 36093780 single base substitution A T intron_variant PACA-CA 13 36093799 36093799 single base substitution T C intron_variant PACA-CA 13 36095099 36095099 single base substitution C G intron_variant PACA-CA 13 36095153 36095153 single base substitution T A intron_variant PACA-CA 13 36095784 36095784 single base substitution G A intron_variant PACA-CA 13 36100904 36100904 single base substitution C T intron_variant PACA-CA 13 36101648 36101648 single base substitution T G intron_variant PACA-CA 13 36101803 36101803 single base substitution G T intron_variant PACA-CA 13 36104799 36104799 single base substitution C T intron_variant PACA-CA 13 36105036 36105036 single base substitution G C intron_variant PACA-CA 13 36105352 36105352 single base substitution G A intron_variant PACA-CA 13 36106374 36106374 single base substitution C T intron_variant PACA-CA 13 36106684 36106684 single base substitution G C intron_variant PACA-CA 13 36108181 36108181 single base substitution A T intron_variant PACA-CA 13 36109114 36109114 single base substitution C T intron_variant PACA-CA 13 36111690 36111690 single base substitution C T intron_variant PACA-CA 13 36113590 36113599 deletion of <=200bp TAGGGGATTT - intron_variant PACA-CA 13 36114443 36114443 single base substitution G A intron_variant PACA-CA 13 36115308 36115308 single base substitution C G intron_variant PACA-CA 13 36116347 36116347 single base substitution G T intron_variant PACA-CA 13 36116383 36116383 single base substitution C T intron_variant PACA-CA 13 36116576 36116576 single base substitution G T intron_variant PACA-CA 13 36117285 36117286 deletion of <=200bp AA - intron_variant PACA-CA 13 36117288 36117295 deletion of <=200bp TTTGAAAA - intron_variant PACA-CA 13 36118066 36118066 single base substitution C A intron_variant PACA-CA 13 36118685 36118685 single base substitution A G intron_variant PACA-CA 13 36121118 36121118 deletion of <=200bp A - intron_variant PACA-CA 13 36124641 36124641 single base substitution G A 5_prime_UTR_variant PACA-CA 13 36124641 36124641 single base substitution G A missense_variant G2202R 6604G>A PACA-CA 13 36124641 36124641 single base substitution G A missense_variant G2205R 6613G>A PACA-CA 13 36126044 36126044 single base substitution C A intron_variant PACA-CA 13 36127412 36127412 single base substitution T A intron_variant PACA-CA 13 36128042 36128044 deletion of <=200bp TTT - intron_variant PACA-CA 13 36130348 36130348 single base substitution T C intron_variant PACA-CA 13 36131166 36131166 single base substitution G T intron_variant PACA-CA 13 36135223 36135223 single base substitution C T intron_variant PACA-CA 13 36136881 36136881 single base substitution T A intron_variant PACA-CA 13 36137696 36137696 single base substitution T A intron_variant PACA-CA 13 36139253 36139253 single base substitution C G intron_variant PACA-CA 13 36145013 36145013 single base substitution A G intron_variant PACA-CA 13 36147732 36147732 single base substitution A T intron_variant PACA-CA 13 36148098 36148098 single base substitution G C intron_variant PACA-CA 13 36149032 36149032 single base substitution G A intron_variant PACA-CA 13 36150809 36150809 single base substitution T C intron_variant PACA-CA 13 36151087 36151087 single base substitution G A intron_variant PACA-CA 13 36152298 36152298 single base substitution C G intron_variant PACA-CA 13 36153166 36153166 deletion of <=200bp G - intron_variant PACA-CA 13 36153826 36153826 single base substitution A G intron_variant PACA-CA 13 36156754 36156754 single base substitution C T intron_variant PACA-CA 13 36157210 36157210 single base substitution C T intron_variant PACA-CA 13 36157903 36157903 single base substitution G A intron_variant PACA-CA 13 36157999 36157999 single base substitution A G intron_variant PACA-CA 13 36158409 36158409 single base substitution A T intron_variant PACA-CA 13 36158828 36158828 single base substitution C T intron_variant PACA-CA 13 36163336 36163336 single base substitution G T intron_variant PACA-CA 13 36163336 36163336 single base substitution G T upstream_gene_variant PACA-CA 13 36165751 36165751 single base substitution C T intron_variant PACA-CA 13 36165751 36165751 single base substitution C T upstream_gene_variant PACA-CA 13 36166984 36166984 single base substitution C T intron_variant PACA-CA 13 36166984 36166984 single base substitution C T upstream_gene_variant PACA-CA 13 36169086 36169086 insertion of <=200bp - T intron_variant PACA-CA 13 36169532 36169532 single base substitution T A intron_variant PACA-CA 13 36171394 36171394 single base substitution A C intron_variant PACA-CA 13 36174175 36174175 single base substitution C T intron_variant PACA-CA 13 36175001 36175001 single base substitution G A intron_variant PACA-CA 13 36175207 36175207 single base substitution G A intron_variant PACA-CA 13 36175500 36175500 single base substitution T C intron_variant PACA-CA 13 36176071 36176071 single base substitution T G intron_variant PACA-CA 13 36180370 36180370 single base substitution A T intron_variant PACA-CA 13 36182330 36182330 single base substitution T C intron_variant PACA-CA 13 36182776 36182776 single base substitution T C intron_variant PACA-CA 13 36182934 36182934 single base substitution C A intron_variant PACA-CA 13 36183110 36183110 single base substitution C T intron_variant PACA-CA 13 36184244 36184244 single base substitution C T intron_variant PACA-CA 13 36184510 36184510 single base substitution G A intron_variant PACA-CA 13 36187379 36187379 single base substitution A T intron_variant PACA-CA 13 36187793 36187793 single base substitution T C intron_variant PACA-CA 13 36192133 36192133 single base substitution A G intron_variant PACA-CA 13 36192566 36192566 single base substitution A T intron_variant PACA-CA 13 36192815 36192815 single base substitution A C intron_variant PACA-CA 13 36194039 36194039 single base substitution A G intron_variant PACA-CA 13 36194082 36194082 single base substitution G A intron_variant PACA-CA 13 36195164 36195164 deletion of <=200bp T - intron_variant PACA-CA 13 36195835 36195835 single base substitution G A intron_variant PACA-CA 13 36196908 36196908 single base substitution T C intron_variant PACA-CA 13 36197504 36197504 single base substitution G A intron_variant PACA-CA 13 36197640 36197640 single base substitution T G intron_variant PACA-CA 13 36198116 36198116 single base substitution G A intron_variant PACA-CA 13 36199717 36199717 single base substitution G A intron_variant PACA-CA 13 36201839 36201839 single base substitution T A intron_variant PACA-CA 13 36203482 36203482 single base substitution C T intron_variant PACA-CA 13 36204236 36204236 single base substitution G T intron_variant PACA-CA 13 36205024 36205024 single base substitution G C intron_variant PACA-CA 13 36210724 36210724 single base substitution C T intron_variant PACA-CA 13 36212222 36212222 single base substitution G A intron_variant PACA-CA 13 36213554 36213554 single base substitution A C intron_variant PACA-CA 13 36213644 36213644 single base substitution A G intron_variant PACA-CA 13 36215950 36215950 single base substitution A T intron_variant PACA-CA 13 36218603 36218603 single base substitution T A intron_variant PACA-CA 13 36218704 36218704 single base substitution G A intron_variant PACA-CA 13 36219492 36219492 single base substitution A T intron_variant PACA-CA 13 36219935 36219935 single base substitution C T intron_variant PACA-CA 13 36220290 36220290 insertion of <=200bp - C intron_variant PACA-CA 13 36223344 36223344 single base substitution A C intron_variant PACA-CA 13 36223756 36223756 single base substitution T A intron_variant PACA-CA 13 36226544 36226544 single base substitution A G intron_variant PACA-CA 13 36226553 36226553 single base substitution G A intron_variant PACA-CA 13 36227307 36227307 single base substitution C T intron_variant PACA-CA 13 36227379 36227379 single base substitution T G intron_variant PACA-CA 13 36228879 36228879 deletion of <=200bp A - intron_variant PACA-CA 13 36228994 36228994 single base substitution A G missense_variant N237D 709A>G PACA-CA 13 36228994 36228994 single base substitution A G missense_variant N2656D 7966A>G PACA-CA 13 36228994 36228994 single base substitution A G missense_variant N2659D 7975A>G PACA-CA 13 36228994 36228994 single base substitution A G missense_variant N452D 1354A>G PACA-CA 13 36233456 36233456 single base substitution G A intron_variant PACA-CA 13 36236908 36236908 deletion of <=200bp T - intron_variant PACA-CA 13 36238276 36238276 single base substitution C G intron_variant PACA-CA 13 36238975 36238975 single base substitution T G intron_variant PACA-CA 13 36241224 36241224 single base substitution G A intron_variant PACA-CA 13 36241224 36241224 single base substitution G A upstream_gene_variant PACA-CA 13 36241909 36241909 single base substitution G C intron_variant PACA-CA 13 36241909 36241909 single base substitution G C upstream_gene_variant PACA-CA 13 36243163 36243163 single base substitution T C intron_variant PACA-CA 13 36243163 36243163 single base substitution T C upstream_gene_variant PACA-CA 13 36244832 36244832 single base substitution G A intron_variant PACA-CA 13 36244832 36244832 single base substitution G A upstream_gene_variant PACA-CA 13 36246158 36246158 single base substitution T C 3_prime_UTR_variant PACA-CA 13 36246158 36246158 single base substitution T C downstream_gene_variant PACA-CA 13 36246158 36246158 single base substitution T C intron_variant PACA-CA 13 36246662 36246662 single base substitution G A 3_prime_UTR_variant PACA-CA 13 36246662 36246662 single base substitution G A downstream_gene_variant PACA-CA 13 36246662 36246662 single base substitution G A intron_variant PACA-CA 13 36250538 36250538 single base substitution G A downstream_gene_variant PACA-CA 13 36251991 36251991 insertion of <=200bp - T downstream_gene_variant PACA-CA 13 36251992 36251992 deletion of <=200bp T - downstream_gene_variant PACA-CA 13 36252023 36252023 insertion of <=200bp - A downstream_gene_variant PAEN-AU 13 35523429 35523429 single base substitution C A intron_variant PAEN-AU 13 35531173 35531173 single base substitution C T intron_variant PAEN-AU 13 35533364 35533379 deletion of <=200bp GAGTATCTATTGCTAT - intron_variant PAEN-AU 13 35550619 35550619 single base substitution T C intron_variant PAEN-AU 13 35554863 35554863 single base substitution A G intron_variant PAEN-AU 13 35584854 35584854 deletion of <=200bp G - intron_variant PAEN-AU 13 35617629 35617629 single base substitution A C intron_variant PAEN-AU 13 35637893 35637893 single base substitution G C intron_variant PAEN-AU 13 35641664 35641664 single base substitution G A intron_variant PAEN-AU 13 35641664 35641664 single base substitution G A upstream_gene_variant PAEN-AU 13 35642067 35642067 single base substitution C G intron_variant PAEN-AU 13 35642067 35642067 single base substitution C G upstream_gene_variant PAEN-AU 13 35664792 35664792 single base substitution G C intron_variant PAEN-AU 13 35707740 35707740 insertion of <=200bp - T intron_variant PAEN-AU 13 35756603 35756603 single base substitution C T missense_variant T1587I 4760C>T PAEN-AU 13 35756603 35756603 single base substitution C T missense_variant T1590I 4769C>T PAEN-AU 13 35765996 35765996 single base substitution A G intron_variant PAEN-AU 13 35768611 35768613 deletion of <=200bp AGG - intron_variant PAEN-AU 13 35800025 35800025 single base substitution T A intron_variant PAEN-AU 13 35876198 35876198 single base substitution T G intron_variant PAEN-AU 13 35882772 35882772 single base substitution G T intron_variant PAEN-AU 13 35899781 35899781 single base substitution G A intron_variant PAEN-AU 13 35903486 35903486 single base substitution C T intron_variant PAEN-AU 13 35906136 35906136 single base substitution A G intron_variant PAEN-AU 13 35959255 35959255 single base substitution C T intron_variant PAEN-AU 13 35966621 35966621 single base substitution G T intron_variant PAEN-AU 13 36016827 36016827 single base substitution A C intron_variant PAEN-AU 13 36068490 36068490 single base substitution A C intron_variant PAEN-AU 13 36120533 36120533 single base substitution T G intron_variant PAEN-AU 13 36133288 36133288 single base substitution G C intron_variant PAEN-AU 13 36152617 36152617 single base substitution G A intron_variant PAEN-AU 13 36153272 36153272 single base substitution T C intron_variant PAEN-AU 13 36181728 36181728 single base substitution G A intron_variant PAEN-AU 13 36190578 36190578 single base substitution T G intron_variant PAEN-AU 13 36194082 36194082 single base substitution G A intron_variant PAEN-AU 13 36204855 36204855 single base substitution G T intron_variant PAEN-IT 13 35525260 35525260 single base substitution A C intron_variant PAEN-IT 13 35531041 35531041 single base substitution G A intron_variant PAEN-IT 13 35545737 35545737 single base substitution A G intron_variant PAEN-IT 13 35566865 35566865 single base substitution A T intron_variant PAEN-IT 13 35572939 35572939 single base substitution G C intron_variant PAEN-IT 13 35580441 35580441 single base substitution C T intron_variant PAEN-IT 13 35674889 35674889 single base substitution G T intron_variant PAEN-IT 13 35680181 35680181 single base substitution G A intron_variant PAEN-IT 13 35716892 35716892 single base substitution C G intron_variant PAEN-IT 13 35719678 35719678 single base substitution G T intron_variant PAEN-IT 13 35812798 35812798 single base substitution A C intron_variant PAEN-IT 13 35892769 35892769 single base substitution G T intron_variant PAEN-IT 13 35938265 35938265 single base substitution A G intron_variant PAEN-IT 13 35969603 35969603 single base substitution G T intron_variant PAEN-IT 13 35970169 35970169 single base substitution G T intron_variant PAEN-IT 13 35988209 35988209 single base substitution G C intron_variant PAEN-IT 13 36054000 36054000 single base substitution G T intron_variant PAEN-IT 13 36074045 36074045 single base substitution G T intron_variant PAEN-IT 13 36105299 36105299 single base substitution C T intron_variant PAEN-IT 13 36156912 36156912 single base substitution T G intron_variant PBCA-DE 13 35513031 35513031 single base substitution C T upstream_gene_variant PBCA-DE 13 35529846 35529846 single base substitution A T intron_variant PBCA-DE 13 35529878 35529878 single base substitution C A intron_variant PBCA-DE 13 35531146 35531147 deletion of <=200bp AT - intron_variant PBCA-DE 13 35532810 35532810 single base substitution C T intron_variant PBCA-DE 13 35554632 35554632 single base substitution G A intron_variant PBCA-DE 13 35555090 35555090 single base substitution C A intron_variant PBCA-DE 13 35556091 35556092 deletion of <=200bp TC - intron_variant PBCA-DE 13 35557153 35557155 deletion of <=200bp TTA - intron_variant PBCA-DE 13 35560113 35560113 single base substitution A T intron_variant PBCA-DE 13 35586840 35586840 single base substitution A T intron_variant PBCA-DE 13 35592494 35592494 single base substitution A C intron_variant PBCA-DE 13 35595259 35595259 insertion of <=200bp - T intron_variant PBCA-DE 13 35598648 35598648 insertion of <=200bp - A intron_variant PBCA-DE 13 35618967 35618967 insertion of <=200bp - AG intron_variant PBCA-DE 13 35618968 35618968 single base substitution G T intron_variant PBCA-DE 13 35619404 35619404 insertion of <=200bp - T intron_variant PBCA-DE 13 35621339 35621340 deletion of <=200bp TG - intron_variant PBCA-DE 13 35625561 35625561 single base substitution C T intron_variant PBCA-DE 13 35629206 35629206 deletion of <=200bp T - intron_variant PBCA-DE 13 35633881 35633882 deletion of <=200bp AT - intron_variant PBCA-DE 13 35640104 35640104 insertion of <=200bp - T intron_variant PBCA-DE 13 35640104 35640104 insertion of <=200bp - T upstream_gene_variant PBCA-DE 13 35648670 35648670 single base substitution C T downstream_gene_variant PBCA-DE 13 35648670 35648670 single base substitution C T intron_variant PBCA-DE 13 35664054 35664054 insertion of <=200bp - C intron_variant PBCA-DE 13 35667661 35667661 single base substitution T G intron_variant PBCA-DE 13 35687768 35687768 single base substitution G A intron_variant PBCA-DE 13 35692160 35692161 deletion of <=200bp TT - intron_variant PBCA-DE 13 35698635 35698636 deletion of <=200bp AC - intron_variant PBCA-DE 13 35698961 35698962 deletion of <=200bp AT - intron_variant PBCA-DE 13 35737297 35737297 single base substitution C A intron_variant PBCA-DE 13 35740185 35740185 single base substitution C A intron_variant PBCA-DE 13 35743254 35743254 single base substitution C A intron_variant PBCA-DE 13 35749349 35749349 single base substitution C T intron_variant PBCA-DE 13 35749729 35749729 single base substitution C T intron_variant PBCA-DE 13 35749777 35749777 single base substitution A C intron_variant PBCA-DE 13 35751489 35751489 single base substitution C A intron_variant PBCA-DE 13 35769534 35769534 insertion of <=200bp - T intron_variant PBCA-DE 13 35772370 35772370 single base substitution T C intron_variant PBCA-DE 13 35775226 35775226 single base substitution C G intron_variant PBCA-DE 13 35782978 35782978 single base substitution G T missense_variant M1833I 5499G>T PBCA-DE 13 35782978 35782978 single base substitution G T missense_variant M1836I 5508G>T PBCA-DE 13 35784415 35784416 deletion of <=200bp GT - intron_variant PBCA-DE 13 35785036 35785036 single base substitution A G intron_variant PBCA-DE 13 35788357 35788357 single base substitution G A intron_variant PBCA-DE 13 35798188 35798188 single base substitution C T intron_variant PBCA-DE 13 35798852 35798852 single base substitution T A intron_variant PBCA-DE 13 35804077 35804077 single base substitution T C intron_variant PBCA-DE 13 35829142 35829142 single base substitution A T intron_variant PBCA-DE 13 35847683 35847683 single base substitution C A intron_variant PBCA-DE 13 35860601 35860601 single base substitution C A intron_variant PBCA-DE 13 35876254 35876254 single base substitution A G intron_variant PBCA-DE 13 35880968 35880968 single base substitution T C intron_variant PBCA-DE 13 35891222 35891222 single base substitution C A intron_variant PBCA-DE 13 35892846 35892846 single base substitution C T intron_variant PBCA-DE 13 35895864 35895864 single base substitution G T intron_variant PBCA-DE 13 35898069 35898069 single base substitution T C intron_variant PBCA-DE 13 35899800 35899800 single base substitution T C intron_variant PBCA-DE 13 35905940 35905940 single base substitution T C intron_variant PBCA-DE 13 35920348 35920348 single base substitution C G intron_variant PBCA-DE 13 35940611 35940611 single base substitution T A intron_variant PBCA-DE 13 35947609 35947609 single base substitution G A intron_variant PBCA-DE 13 35952723 35952723 single base substitution G A intron_variant PBCA-DE 13 35955094 35955094 single base substitution T A intron_variant PBCA-DE 13 35975225 35975225 single base substitution A G intron_variant PBCA-DE 13 35980415 35980415 single base substitution C T intron_variant PBCA-DE 13 35984686 35984686 deletion of <=200bp A - intron_variant PBCA-DE 13 35994209 35994209 single base substitution G A intron_variant PBCA-DE 13 36006218 36006218 single base substitution T A intron_variant PBCA-DE 13 36029153 36029153 insertion of <=200bp - G intron_variant PBCA-DE 13 36033154 36033154 single base substitution C A intron_variant PBCA-DE 13 36033963 36033963 single base substitution G T intron_variant PBCA-DE 13 36034503 36034503 single base substitution C T intron_variant PBCA-DE 13 36041024 36041024 insertion of <=200bp - T intron_variant PBCA-DE 13 36043258 36043258 single base substitution G A intron_variant PBCA-DE 13 36047975 36047975 single base substitution G C intron_variant PBCA-DE 13 36047975 36047975 single base substitution G C upstream_gene_variant PBCA-DE 13 36048792 36048792 single base substitution C A intron_variant PBCA-DE 13 36048792 36048792 single base substitution C A upstream_gene_variant PBCA-DE 13 36051339 36051339 single base substitution C T intron_variant PBCA-DE 13 36067450 36067450 deletion of <=200bp G - intron_variant PBCA-DE 13 36080486 36080486 single base substitution G A intron_variant PBCA-DE 13 36081447 36081447 insertion of <=200bp - T intron_variant PBCA-DE 13 36082646 36082646 insertion of <=200bp - A intron_variant PBCA-DE 13 36083511 36083512 deletion of <=200bp AG - intron_variant PBCA-DE 13 36092065 36092065 single base substitution G A intron_variant PBCA-DE 13 36092421 36092421 single base substitution A C intron_variant PBCA-DE 13 36097766 36097766 single base substitution G T intron_variant PBCA-DE 13 36102430 36102433 deletion of <=200bp TCTT - intron_variant PBCA-DE 13 36109320 36109320 single base substitution G T intron_variant PBCA-DE 13 36110788 36110788 single base substitution G A intron_variant PBCA-DE 13 36117025 36117033 deletion of <=200bp TATAATTTC - intron_variant PBCA-DE 13 36124719 36124719 single base substitution A T missense_variant M2228L 6682A>T PBCA-DE 13 36124719 36124719 single base substitution A T missense_variant M2231L 6691A>T PBCA-DE 13 36124719 36124719 single base substitution A T missense_variant M24L 70A>T PBCA-DE 13 36127057 36127057 single base substitution T A intron_variant PBCA-DE 13 36137907 36137907 single base substitution A T intron_variant PBCA-DE 13 36149690 36149690 single base substitution T A intron_variant PBCA-DE 13 36151515 36151515 insertion of <=200bp - A intron_variant PBCA-DE 13 36151772 36151772 single base substitution C T intron_variant PBCA-DE 13 36151773 36151773 single base substitution A G intron_variant PBCA-DE 13 36157175 36157175 single base substitution A G intron_variant PBCA-DE 13 36162613 36162613 single base substitution T A intron_variant PBCA-DE 13 36162613 36162613 single base substitution T A upstream_gene_variant PBCA-DE 13 36168545 36168553 deletion of <=200bp TGTTCAGTA - intron_variant PBCA-DE 13 36169085 36169086 deletion of <=200bp CA - intron_variant PBCA-DE 13 36189937 36189937 single base substitution G A intron_variant PBCA-DE 13 36197010 36197010 insertion of <=200bp - T intron_variant PBCA-DE 13 36198193 36198194 deletion of <=200bp GT - intron_variant PBCA-DE 13 36204211 36204211 single base substitution T C intron_variant PBCA-DE 13 36204223 36204223 single base substitution T C intron_variant PBCA-DE 13 36204730 36204730 single base substitution C A intron_variant PBCA-DE 13 36212133 36212133 single base substitution A C intron_variant PBCA-DE 13 36214767 36214767 single base substitution G T intron_variant PBCA-DE 13 36224296 36224296 single base substitution C T intron_variant PBCA-DE 13 36227154 36227154 single base substitution A T intron_variant PBCA-DE 13 36234689 36234689 single base substitution C T intron_variant PBCA-DE 13 36237586 36237586 insertion of <=200bp - T intron_variant PBCA-DE 13 36243307 36243307 single base substitution G T intron_variant PBCA-DE 13 36243307 36243307 single base substitution G T upstream_gene_variant PBCA-DE 13 36243443 36243443 insertion of <=200bp - TTTT intron_variant PBCA-DE 13 36243443 36243443 insertion of <=200bp - TTTT upstream_gene_variant PBCA-DE 13 36243585 36243585 insertion of <=200bp - AATAA intron_variant PBCA-DE 13 36243585 36243585 insertion of <=200bp - AATAA upstream_gene_variant PBCA-DE 13 36246318 36246318 single base substitution A G 3_prime_UTR_variant PBCA-DE 13 36246318 36246318 single base substitution A G downstream_gene_variant PBCA-DE 13 36246318 36246318 single base substitution A G intron_variant PRAD-CA 13 35528918 35528918 single base substitution T C intron_variant PRAD-CA 13 35538927 35538927 single base substitution T C intron_variant PRAD-CA 13 35566359 35566359 single base substitution A G intron_variant PRAD-CA 13 35566375 35566375 single base substitution G A intron_variant PRAD-CA 13 35566401 35566401 single base substitution T A intron_variant PRAD-CA 13 35581596 35581596 single base substitution G A intron_variant PRAD-CA 13 35593011 35593011 single base substitution T C intron_variant PRAD-CA 13 35595435 35595435 single base substitution G T intron_variant PRAD-CA 13 35599602 35599602 single base substitution T A intron_variant PRAD-CA 13 35602384 35602384 single base substitution G A intron_variant PRAD-CA 13 35618970 35618970 single base substitution G T intron_variant PRAD-CA 13 35621870 35621870 single base substitution T C intron_variant PRAD-CA 13 35633900 35633900 single base substitution G C intron_variant PRAD-CA 13 35756495 35756495 single base substitution A G splice_acceptor_variant PRAD-CA 13 35762250 35762250 single base substitution A G intron_variant PRAD-CA 13 35768917 35768917 single base substitution T C intron_variant PRAD-CA 13 35796348 35796348 single base substitution G T intron_variant PRAD-CA 13 35802454 35802454 single base substitution T G intron_variant PRAD-CA 13 35836730 35836730 single base substitution G A intron_variant PRAD-CA 13 35845386 35845386 single base substitution C G intron_variant PRAD-CA 13 35858153 35858153 single base substitution C A intron_variant PRAD-CA 13 35858154 35858154 single base substitution A C intron_variant PRAD-CA 13 35863357 35863357 single base substitution T C intron_variant PRAD-CA 13 35870924 35870924 single base substitution C G intron_variant PRAD-CA 13 35872326 35872326 single base substitution G A intron_variant PRAD-CA 13 35875684 35875684 single base substitution C T intron_variant PRAD-CA 13 35882621 35882621 single base substitution A G intron_variant PRAD-CA 13 35896155 35896155 single base substitution C G intron_variant PRAD-CA 13 35929814 35929814 single base substitution A G intron_variant PRAD-CA 13 35931199 35931199 single base substitution C A intron_variant PRAD-CA 13 35947868 35947868 single base substitution C T intron_variant PRAD-CA 13 35948374 35948374 single base substitution G A intron_variant PRAD-CA 13 35985489 35985489 single base substitution A G intron_variant PRAD-CA 13 35996234 35996234 single base substitution T G intron_variant PRAD-CA 13 36034496 36034496 single base substitution T G intron_variant PRAD-CA 13 36036766 36036766 single base substitution T A intron_variant PRAD-CA 13 36067201 36067201 single base substitution A C intron_variant PRAD-CA 13 36070142 36070142 single base substitution G A intron_variant PRAD-CA 13 36081335 36081335 single base substitution C T intron_variant PRAD-CA 13 36151688 36151688 single base substitution G T intron_variant PRAD-CA 13 36173954 36173954 single base substitution A C intron_variant PRAD-CA 13 36177378 36177378 single base substitution T G intron_variant PRAD-CA 13 36204492 36204492 single base substitution T C intron_variant PRAD-CA 13 36220867 36220867 single base substitution T G intron_variant PRAD-CA 13 36244629 36244629 single base substitution G T intron_variant PRAD-CA 13 36244629 36244629 single base substitution G T upstream_gene_variant PRAD-CA 13 36250537 36250537 single base substitution C G downstream_gene_variant PRAD-UK 13 35521411 35521411 single base substitution T G intron_variant PRAD-UK 13 35525688 35525688 single base substitution G T intron_variant PRAD-UK 13 35527513 35527513 single base substitution T C intron_variant PRAD-UK 13 35541106 35541106 single base substitution T C intron_variant PRAD-UK 13 35568116 35568116 single base substitution C A intron_variant PRAD-UK 13 35611061 35611066 deletion of <=200bp TTGGAT - intron_variant PRAD-UK 13 35619696 35619696 single base substitution T C intron_variant PRAD-UK 13 35623730 35623730 single base substitution C G intron_variant PRAD-UK 13 35627067 35627067 single base substitution A C intron_variant PRAD-UK 13 35630570 35630570 single base substitution G C intron_variant PRAD-UK 13 35637800 35637800 single base substitution G A intron_variant PRAD-UK 13 35643745 35643745 single base substitution C G intron_variant PRAD-UK 13 35643745 35643745 single base substitution C G upstream_gene_variant PRAD-UK 13 35654783 35654783 single base substitution T C intron_variant PRAD-UK 13 35657949 35657949 single base substitution G T intron_variant PRAD-UK 13 35691243 35691243 insertion of <=200bp - A intron_variant PRAD-UK 13 35693003 35693003 insertion of <=200bp - T intron_variant PRAD-UK 13 35693014 35693014 insertion of <=200bp - T intron_variant PRAD-UK 13 35693356 35693356 single base substitution G T intron_variant PRAD-UK 13 35704630 35704630 deletion of <=200bp C - intron_variant PRAD-UK 13 35711153 35711153 single base substitution G C intron_variant PRAD-UK 13 35756947 35756947 single base substitution A G intron_variant PRAD-UK 13 35762086 35762086 single base substitution C T intron_variant PRAD-UK 13 35770662 35770662 single base substitution G A intron_variant PRAD-UK 13 35771103 35771103 single base substitution G A intron_variant PRAD-UK 13 35771292 35771292 single base substitution G A intron_variant PRAD-UK 13 35771390 35771390 single base substitution G A intron_variant PRAD-UK 13 35771471 35771471 single base substitution G A intron_variant PRAD-UK 13 35771480 35771480 single base substitution G C intron_variant PRAD-UK 13 35772068 35772068 single base substitution G C intron_variant PRAD-UK 13 35772291 35772291 single base substitution G A intron_variant PRAD-UK 13 35772788 35772788 single base substitution G C intron_variant PRAD-UK 13 35772880 35772880 single base substitution G C intron_variant PRAD-UK 13 35772925 35772925 single base substitution G A intron_variant PRAD-UK 13 35778689 35778689 single base substitution A G intron_variant PRAD-UK 13 35781747 35781747 single base substitution C T intron_variant PRAD-UK 13 35790680 35790680 single base substitution T G intron_variant PRAD-UK 13 35802513 35802513 single base substitution T C intron_variant PRAD-UK 13 35818225 35818225 single base substitution T A intron_variant PRAD-UK 13 35832173 35832173 single base substitution A G intron_variant PRAD-UK 13 35839402 35839402 single base substitution G T intron_variant PRAD-UK 13 35858501 35858501 insertion of <=200bp - T intron_variant PRAD-UK 13 35863924 35863924 insertion of <=200bp - T intron_variant PRAD-UK 13 35864623 35864623 single base substitution T C intron_variant PRAD-UK 13 35874914 35874914 single base substitution G A intron_variant PRAD-UK 13 35890816 35890816 single base substitution G A intron_variant PRAD-UK 13 35891073 35891073 single base substitution G A intron_variant PRAD-UK 13 35896033 35896033 single base substitution T C intron_variant PRAD-UK 13 35897522 35897522 deletion of <=200bp T - intron_variant PRAD-UK 13 35897523 35897523 deletion of <=200bp A - intron_variant PRAD-UK 13 35901206 35901206 single base substitution C T intron_variant PRAD-UK 13 35904361 35904361 single base substitution T C intron_variant PRAD-UK 13 35905966 35905966 single base substitution T A intron_variant PRAD-UK 13 35955981 35955981 single base substitution C T intron_variant PRAD-UK 13 35956247 35956247 single base substitution G A intron_variant PRAD-UK 13 35973136 35973136 single base substitution A G intron_variant PRAD-UK 13 35973768 35973768 single base substitution C G intron_variant PRAD-UK 13 35974664 35974664 single base substitution A C intron_variant PRAD-UK 13 35977584 35977584 single base substitution G A intron_variant PRAD-UK 13 35979745 35979745 insertion of <=200bp - A intron_variant PRAD-UK 13 35979751 35979751 insertion of <=200bp - A intron_variant PRAD-UK 13 35985353 35985353 single base substitution T C intron_variant PRAD-UK 13 36008226 36008226 insertion of <=200bp - T intron_variant PRAD-UK 13 36016565 36016565 single base substitution C T intron_variant PRAD-UK 13 36026083 36026083 single base substitution G C intron_variant PRAD-UK 13 36030636 36030636 single base substitution G T intron_variant PRAD-UK 13 36043106 36043106 single base substitution C T intron_variant PRAD-UK 13 36044081 36044081 single base substitution G T intron_variant PRAD-UK 13 36050421 36050421 single base substitution A C intron_variant PRAD-UK 13 36050421 36050421 single base substitution A C upstream_gene_variant PRAD-UK 13 36057886 36057886 single base substitution T C intron_variant PRAD-UK 13 36073303 36073303 single base substitution T C intron_variant PRAD-UK 13 36077190 36077190 single base substitution G A intron_variant PRAD-UK 13 36085315 36085315 single base substitution T C intron_variant PRAD-UK 13 36087975 36087975 insertion of <=200bp - A intron_variant PRAD-UK 13 36091458 36091458 single base substitution C T intron_variant PRAD-UK 13 36092067 36092067 single base substitution A G intron_variant PRAD-UK 13 36098430 36098430 single base substitution C T intron_variant PRAD-UK 13 36100633 36100633 single base substitution A G intron_variant PRAD-UK 13 36113725 36113725 single base substitution A T intron_variant PRAD-UK 13 36136533 36136533 single base substitution G C intron_variant PRAD-UK 13 36142499 36142499 single base substitution A G intron_variant PRAD-UK 13 36144807 36144807 single base substitution G A intron_variant PRAD-UK 13 36201834 36201834 single base substitution A T intron_variant PRAD-UK 13 36208162 36208162 single base substitution C A intron_variant PRAD-UK 13 36216688 36216688 single base substitution C T intron_variant PRAD-UK 13 36219408 36219408 single base substitution T G intron_variant PRAD-UK 13 36220423 36220423 single base substitution G A missense_variant G127R 379G>A PRAD-UK 13 36220423 36220423 single base substitution G A missense_variant G2546R 7636G>A PRAD-UK 13 36220423 36220423 single base substitution G A missense_variant G2549R 7645G>A PRAD-UK 13 36220423 36220423 single base substitution G A missense_variant G342R 1024G>A PRAD-UK 13 36242883 36242883 single base substitution C T intron_variant PRAD-UK 13 36242883 36242883 single base substitution C T upstream_gene_variant PRAD-US 13 35733542 35733542 single base substitution G A synonymous_variant P1078P 3234G>A PRAD-US 13 35770248 35770248 single base substitution G A synonymous_variant T1722T 5166G>A PRAD-US 13 35770248 35770248 single base substitution G A synonymous_variant T1725T 5175G>A PRAD-US 13 36158143 36158143 single base substitution G A missense_variant A175T 523G>A PRAD-US 13 36158143 36158143 single base substitution G A missense_variant A2379T 7135G>A PRAD-US 13 36158143 36158143 single base substitution G A missense_variant A2382T 7144G>A READ-US 13 35619537 35619537 single base substitution C T missense_variant A241V 722C>T READ-US 13 35692599 35692599 single base substitution G T missense_variant R744I 2231G>T READ-US 13 35733400 35733400 insertion of <=200bp - A frameshift_variant T1031N? READ-US 13 35733720 35733720 single base substitution G T missense_variant D1138Y 3412G>T READ-US 13 35733753 35733753 single base substitution G C missense_variant D1149H 3445G>C READ-US 13 35735947 35735947 single base substitution C T stop_gained R1308* 3922C>T READ-US 13 35751234 35751234 single base substitution G A synonymous_variant R1549R 4647G>A READ-US 13 35751234 35751234 single base substitution G A synonymous_variant R1552R 4656G>A READ-US 13 35756550 35756550 single base substitution G A synonymous_variant S1569S 4707G>A READ-US 13 35756550 35756550 single base substitution G A synonymous_variant S1572S 4716G>A READ-US 13 35770201 35770201 single base substitution G A missense_variant E1707K 5119G>A READ-US 13 35770201 35770201 single base substitution G A missense_variant E1710K 5128G>A READ-US 13 35770316 35770316 single base substitution A C missense_variant K1745T 5234A>C READ-US 13 35770316 35770316 single base substitution A C missense_variant K1748T 5243A>C READ-US 13 36049310 36049310 single base substitution C T intron_variant READ-US 13 36049310 36049310 single base substitution C T upstream_gene_variant READ-US 13 36049788 36049788 single base substitution C T intron_variant READ-US 13 36049788 36049788 single base substitution C T upstream_gene_variant READ-US 13 36049902 36049902 single base substitution G A intron_variant READ-US 13 36049902 36049902 single base substitution G A upstream_gene_variant READ-US 13 36050078 36050078 single base substitution G A intron_variant READ-US 13 36050078 36050078 single base substitution G A upstream_gene_variant READ-US 13 36158044 36158044 single base substitution G T missense_variant A142S 424G>T READ-US 13 36158044 36158044 single base substitution G T missense_variant A2346S 7036G>T READ-US 13 36158044 36158044 single base substitution G T missense_variant A2349S 7045G>T READ-US 13 36223948 36223948 single base substitution C T stop_gained R200* 598C>T READ-US 13 36223948 36223948 single base substitution C T stop_gained R2619* 7855C>T READ-US 13 36223948 36223948 single base substitution C T stop_gained R2622* 7864C>T READ-US 13 36223948 36223948 single base substitution C T stop_gained R415* 1243C>T READ-US 13 36229033 36229033 single base substitution G A missense_variant V250I 748G>A READ-US 13 36229033 36229033 single base substitution G A missense_variant V2669I 8005G>A READ-US 13 36229033 36229033 single base substitution G A missense_variant V2672I 8014G>A READ-US 13 36229033 36229033 single base substitution G A missense_variant V465I 1393G>A READ-US 13 36241567 36241567 single base substitution C T missense_variant P2817S 8449C>T READ-US 13 36241567 36241567 single base substitution C T missense_variant P2820S 8458C>T READ-US 13 36241567 36241567 single base substitution C T missense_variant P398S 1192C>T READ-US 13 36241567 36241567 single base substitution C T missense_variant P613S 1837C>T READ-US 13 36241567 36241567 single base substitution C T upstream_gene_variant RECA-EU 13 35518777 35518777 single base substitution G A intron_variant RECA-EU 13 35521789 35521789 single base substitution A T intron_variant RECA-EU 13 35524034 35524034 single base substitution G A intron_variant RECA-EU 13 35534768 35534768 single base substitution A T intron_variant RECA-EU 13 35576494 35576494 single base substitution G T intron_variant RECA-EU 13 35577870 35577870 single base substitution A T intron_variant RECA-EU 13 35581457 35581457 single base substitution A T intron_variant RECA-EU 13 35582330 35582330 single base substitution C A intron_variant RECA-EU 13 35591757 35591757 single base substitution A G intron_variant RECA-EU 13 35591965 35591965 single base substitution C A intron_variant RECA-EU 13 35612216 35612216 single base substitution C T intron_variant RECA-EU 13 35630540 35630540 single base substitution C T intron_variant RECA-EU 13 35630914 35630914 single base substitution C A intron_variant RECA-EU 13 35636997 35636997 single base substitution A G intron_variant RECA-EU 13 35644619 35644619 single base substitution G A intron_variant RECA-EU 13 35650177 35650177 single base substitution T G intron_variant RECA-EU 13 35682666 35682666 single base substitution T G intron_variant RECA-EU 13 35735493 35735493 single base substitution T A intron_variant RECA-EU 13 35746815 35746815 single base substitution A G intron_variant RECA-EU 13 35748560 35748560 single base substitution T A intron_variant RECA-EU 13 35755878 35755878 single base substitution A C intron_variant RECA-EU 13 35775349 35775349 single base substitution T C intron_variant RECA-EU 13 35775488 35775488 single base substitution A G intron_variant RECA-EU 13 35777854 35777854 single base substitution A G intron_variant RECA-EU 13 35790711 35790711 single base substitution A T intron_variant RECA-EU 13 35800727 35800727 single base substitution T A intron_variant RECA-EU 13 35801119 35801119 single base substitution A T intron_variant RECA-EU 13 35812041 35812041 single base substitution T G intron_variant RECA-EU 13 35846792 35846792 single base substitution A T intron_variant RECA-EU 13 35849182 35849182 single base substitution C T intron_variant RECA-EU 13 35849441 35849441 single base substitution A T intron_variant RECA-EU 13 35859538 35859538 single base substitution A T intron_variant RECA-EU 13 35863173 35863173 single base substitution G A intron_variant RECA-EU 13 35875287 35875287 single base substitution A G intron_variant RECA-EU 13 35875582 35875582 single base substitution T A intron_variant RECA-EU 13 35889135 35889135 single base substitution T G intron_variant RECA-EU 13 35891198 35891198 single base substitution G T intron_variant RECA-EU 13 35896242 35896242 single base substitution C G intron_variant RECA-EU 13 35900086 35900086 single base substitution G A intron_variant RECA-EU 13 35900857 35900857 single base substitution T G intron_variant RECA-EU 13 35906177 35906177 single base substitution A T intron_variant RECA-EU 13 35915784 35915784 single base substitution C A intron_variant RECA-EU 13 35915873 35915873 single base substitution C T intron_variant RECA-EU 13 35923733 35923733 single base substitution C G intron_variant RECA-EU 13 35944764 35944764 single base substitution T G intron_variant RECA-EU 13 35945193 35945193 single base substitution T C intron_variant RECA-EU 13 35950379 35950379 single base substitution G T intron_variant RECA-EU 13 35954688 35954688 single base substitution C T intron_variant RECA-EU 13 35969857 35969857 single base substitution C T intron_variant RECA-EU 13 35971269 35971269 single base substitution C T intron_variant RECA-EU 13 35986302 35986302 single base substitution T G intron_variant RECA-EU 13 35986303 35986303 single base substitution A T intron_variant RECA-EU 13 35995558 35995558 single base substitution C A intron_variant RECA-EU 13 36009954 36009954 single base substitution A T intron_variant RECA-EU 13 36017623 36017623 single base substitution G T intron_variant RECA-EU 13 36056663 36056663 single base substitution T G intron_variant RECA-EU 13 36061944 36061944 single base substitution A T intron_variant RECA-EU 13 36084459 36084459 single base substitution T A intron_variant RECA-EU 13 36084874 36084874 single base substitution C T intron_variant RECA-EU 13 36086121 36086121 single base substitution A T intron_variant RECA-EU 13 36095177 36095177 single base substitution T A intron_variant RECA-EU 13 36106473 36106473 single base substitution A T intron_variant RECA-EU 13 36108387 36108387 single base substitution C G intron_variant RECA-EU 13 36133696 36133696 single base substitution T A intron_variant RECA-EU 13 36144954 36144954 single base substitution G T intron_variant RECA-EU 13 36158414 36158414 single base substitution T C intron_variant RECA-EU 13 36165549 36165549 single base substitution A G intron_variant RECA-EU 13 36165549 36165549 single base substitution A G upstream_gene_variant RECA-EU 13 36166523 36166523 single base substitution C T intron_variant RECA-EU 13 36166523 36166523 single base substitution C T upstream_gene_variant RECA-EU 13 36176642 36176642 single base substitution A T intron_variant RECA-EU 13 36178226 36178226 single base substitution G C intron_variant RECA-EU 13 36199512 36199512 single base substitution G C intron_variant RECA-EU 13 36207405 36207405 single base substitution A T intron_variant RECA-EU 13 36211062 36211062 single base substitution T G intron_variant RECA-EU 13 36217146 36217146 single base substitution A T intron_variant RECA-EU 13 36239437 36239437 single base substitution A T intron_variant SKCA-BR 13 35511850 35511850 single base substitution G T upstream_gene_variant SKCA-BR 13 35513311 35513311 single base substitution C T upstream_gene_variant SKCA-BR 13 35513670 35513670 single base substitution G A upstream_gene_variant SKCA-BR 13 35513809 35513809 single base substitution C T upstream_gene_variant SKCA-BR 13 35516823 35516823 single base substitution A G 5_prime_UTR_variant SKCA-BR 13 35518779 35518779 single base substitution A G intron_variant SKCA-BR 13 35520762 35520762 single base substitution G A intron_variant SKCA-BR 13 35521209 35521209 single base substitution C T intron_variant SKCA-BR 13 35521405 35521405 single base substitution C T intron_variant SKCA-BR 13 35523965 35523965 single base substitution G A intron_variant SKCA-BR 13 35525477 35525477 single base substitution T C intron_variant SKCA-BR 13 35527195 35527195 single base substitution G A intron_variant SKCA-BR 13 35527289 35527289 single base substitution G A intron_variant SKCA-BR 13 35528132 35528132 single base substitution C T intron_variant SKCA-BR 13 35529279 35529279 single base substitution C T intron_variant SKCA-BR 13 35529977 35529977 single base substitution T C intron_variant SKCA-BR 13 35530426 35530426 single base substitution G A intron_variant SKCA-BR 13 35530601 35530601 single base substitution C T intron_variant SKCA-BR 13 35530812 35530812 single base substitution T C intron_variant SKCA-BR 13 35531191 35531191 insertion of <=200bp - CAT intron_variant SKCA-BR 13 35537640 35537640 single base substitution G T intron_variant SKCA-BR 13 35537813 35537813 single base substitution C T intron_variant SKCA-BR 13 35537843 35537843 single base substitution C T intron_variant SKCA-BR 13 35537846 35537846 single base substitution C T intron_variant SKCA-BR 13 35539444 35539444 single base substitution C T intron_variant SKCA-BR 13 35540580 35540580 single base substitution C T intron_variant SKCA-BR 13 35542816 35542816 single base substitution G A intron_variant SKCA-BR 13 35544117 35544117 single base substitution C T intron_variant SKCA-BR 13 35544311 35544311 single base substitution G A intron_variant SKCA-BR 13 35544974 35544974 single base substitution G A intron_variant SKCA-BR 13 35545151 35545151 single base substitution T G intron_variant SKCA-BR 13 35545377 35545377 single base substitution C T intron_variant SKCA-BR 13 35546176 35546176 single base substitution G A intron_variant SKCA-BR 13 35546200 35546200 single base substitution C T intron_variant SKCA-BR 13 35546711 35546711 single base substitution T A intron_variant SKCA-BR 13 35549338 35549338 single base substitution C T intron_variant SKCA-BR 13 35551982 35551982 single base substitution T A intron_variant SKCA-BR 13 35553346 35553346 single base substitution T G intron_variant SKCA-BR 13 35553963 35553963 single base substitution C T intron_variant SKCA-BR 13 35555370 35555370 single base substitution C T intron_variant SKCA-BR 13 35555792 35555792 single base substitution C T intron_variant SKCA-BR 13 35555865 35555865 single base substitution G A intron_variant SKCA-BR 13 35556499 35556499 single base substitution C T intron_variant SKCA-BR 13 35557090 35557090 single base substitution G A intron_variant SKCA-BR 13 35558408 35558408 single base substitution A G intron_variant SKCA-BR 13 35558684 35558684 single base substitution G A intron_variant SKCA-BR 13 35560150 35560150 insertion of <=200bp - GT intron_variant SKCA-BR 13 35561626 35561626 single base substitution G A intron_variant SKCA-BR 13 35562543 35562543 single base substitution G A intron_variant SKCA-BR 13 35562603 35562603 single base substitution C T intron_variant SKCA-BR 13 35564401 35564401 single base substitution C T intron_variant SKCA-BR 13 35565170 35565170 single base substitution C T intron_variant SKCA-BR 13 35566351 35566359 deletion of <=200bp GTGTGTATA - intron_variant SKCA-BR 13 35566375 35566375 insertion of <=200bp - GTA intron_variant SKCA-BR 13 35566377 35566377 single base substitution A G intron_variant SKCA-BR 13 35566976 35566976 insertion of <=200bp - ATT intron_variant SKCA-BR 13 35567400 35567400 single base substitution C T intron_variant SKCA-BR 13 35568745 35568745 single base substitution C T intron_variant SKCA-BR 13 35570147 35570147 single base substitution G A intron_variant SKCA-BR 13 35570601 35570601 insertion of <=200bp - TTG intron_variant SKCA-BR 13 35571168 35571168 single base substitution T G intron_variant SKCA-BR 13 35571472 35571472 single base substitution G A intron_variant SKCA-BR 13 35571905 35571905 single base substitution C T intron_variant SKCA-BR 13 35572167 35572167 single base substitution C T intron_variant SKCA-BR 13 35572642 35572642 single base substitution A G intron_variant SKCA-BR 13 35575564 35575564 single base substitution C T intron_variant SKCA-BR 13 35576358 35576358 single base substitution G A intron_variant SKCA-BR 13 35576792 35576792 single base substitution C T intron_variant SKCA-BR 13 35576818 35576818 single base substitution T C intron_variant SKCA-BR 13 35576847 35576847 single base substitution C T intron_variant SKCA-BR 13 35577020 35577020 single base substitution G A intron_variant SKCA-BR 13 35577502 35577502 single base substitution C T intron_variant SKCA-BR 13 35579623 35579623 single base substitution C T intron_variant SKCA-BR 13 35580102 35580102 single base substitution C T intron_variant SKCA-BR 13 35581115 35581115 single base substitution C T intron_variant SKCA-BR 13 35581563 35581563 single base substitution C T intron_variant SKCA-BR 13 35581828 35581828 single base substitution C T intron_variant SKCA-BR 13 35581885 35581885 single base substitution C T intron_variant SKCA-BR 13 35583316 35583316 single base substitution G A intron_variant SKCA-BR 13 35583953 35583953 single base substitution G A intron_variant SKCA-BR 13 35584879 35584890 deletion of <=200bp ATATATATATAT - intron_variant SKCA-BR 13 35584882 35584882 single base substitution T A intron_variant SKCA-BR 13 35585319 35585319 single base substitution G A intron_variant SKCA-BR 13 35585512 35585512 single base substitution T G intron_variant SKCA-BR 13 35585810 35585810 single base substitution G A intron_variant SKCA-BR 13 35586656 35586656 single base substitution G A intron_variant SKCA-BR 13 35588405 35588405 single base substitution C T intron_variant SKCA-BR 13 35589280 35589281 deletion of <=200bp AC - intron_variant SKCA-BR 13 35591940 35591940 single base substitution G A intron_variant SKCA-BR 13 35594849 35594849 single base substitution G A intron_variant SKCA-BR 13 35594888 35594888 single base substitution C T intron_variant SKCA-BR 13 35594889 35594889 single base substitution T C intron_variant SKCA-BR 13 35595674 35595674 single base substitution C T intron_variant SKCA-BR 13 35596557 35596557 single base substitution G A intron_variant SKCA-BR 13 35598125 35598125 single base substitution C T intron_variant SKCA-BR 13 35600353 35600353 single base substitution C T intron_variant SKCA-BR 13 35601052 35601052 single base substitution C T intron_variant SKCA-BR 13 35601246 35601246 single base substitution C T intron_variant SKCA-BR 13 35602006 35602006 single base substitution G T intron_variant SKCA-BR 13 35602771 35602771 single base substitution C T intron_variant SKCA-BR 13 35602908 35602908 single base substitution C T intron_variant SKCA-BR 13 35603512 35603512 single base substitution A T intron_variant SKCA-BR 13 35604039 35604039 single base substitution G A intron_variant SKCA-BR 13 35604307 35604307 single base substitution C T intron_variant SKCA-BR 13 35604824 35604824 single base substitution C T intron_variant SKCA-BR 13 35606151 35606151 single base substitution G A intron_variant SKCA-BR 13 35607116 35607116 single base substitution C T intron_variant SKCA-BR 13 35607702 35607702 single base substitution G A intron_variant SKCA-BR 13 35607808 35607808 single base substitution C T intron_variant SKCA-BR 13 35608108 35608108 single base substitution C T intron_variant SKCA-BR 13 35608353 35608353 single base substitution C T intron_variant SKCA-BR 13 35608550 35608550 single base substitution T A intron_variant SKCA-BR 13 35608922 35608922 single base substitution C T intron_variant SKCA-BR 13 35609052 35609052 single base substitution C T intron_variant SKCA-BR 13 35609603 35609603 single base substitution G A intron_variant SKCA-BR 13 35609851 35609851 single base substitution G A intron_variant SKCA-BR 13 35611038 35611038 single base substitution G T intron_variant SKCA-BR 13 35612549 35612549 single base substitution C T intron_variant SKCA-BR 13 35613552 35613552 single base substitution G A intron_variant SKCA-BR 13 35614232 35614232 single base substitution C T intron_variant SKCA-BR 13 35614536 35614536 single base substitution C T intron_variant SKCA-BR 13 35617527 35617527 single base substitution G C intron_variant SKCA-BR 13 35618952 35618952 insertion of <=200bp - CAT intron_variant SKCA-BR 13 35618966 35618966 insertion of <=200bp - TAG intron_variant SKCA-BR 13 35619164 35619164 single base substitution C T stop_gained R203* 607C>T SKCA-BR 13 35619520 35619520 single base substitution C T synonymous_variant F235F 705C>T SKCA-BR 13 35620776 35620776 single base substitution G C intron_variant SKCA-BR 13 35621194 35621194 single base substitution C T intron_variant SKCA-BR 13 35624410 35624410 single base substitution C T missense_variant R284C 850C>T SKCA-BR 13 35625829 35625829 single base substitution G A intron_variant SKCA-BR 13 35628019 35628019 single base substitution C T intron_variant SKCA-BR 13 35630206 35630206 single base substitution T C synonymous_variant C344C 1032T>C SKCA-BR 13 35631233 35631233 single base substitution G A intron_variant SKCA-BR 13 35631454 35631454 single base substitution C T intron_variant SKCA-BR 13 35631565 35631565 single base substitution G C intron_variant SKCA-BR 13 35632690 35632690 single base substitution A T intron_variant SKCA-BR 13 35633201 35633201 single base substitution T A intron_variant SKCA-BR 13 35633587 35633587 single base substitution G A intron_variant SKCA-BR 13 35633719 35633719 single base substitution A G intron_variant SKCA-BR 13 35633910 35633910 single base substitution G A intron_variant SKCA-BR 13 35634355 35634355 single base substitution C T intron_variant SKCA-BR 13 35634413 35634413 single base substitution G A intron_variant SKCA-BR 13 35636000 35636000 single base substitution C T intron_variant SKCA-BR 13 35636242 35636242 single base substitution C T intron_variant SKCA-BR 13 35636517 35636517 single base substitution G A intron_variant SKCA-BR 13 35636631 35636631 single base substitution C T intron_variant SKCA-BR 13 35637530 35637530 single base substitution G A intron_variant SKCA-BR 13 35637531 35637531 single base substitution G A intron_variant SKCA-BR 13 35638772 35638772 single base substitution C T intron_variant SKCA-BR 13 35638773 35638773 single base substitution C T intron_variant SKCA-BR 13 35639533 35639533 single base substitution C T intron_variant SKCA-BR 13 35639533 35639533 single base substitution C T upstream_gene_variant SKCA-BR 13 35640436 35640436 single base substitution G A intron_variant SKCA-BR 13 35640436 35640436 single base substitution G A upstream_gene_variant SKCA-BR 13 35642929 35642929 single base substitution A C intron_variant SKCA-BR 13 35642929 35642929 single base substitution A C upstream_gene_variant SKCA-BR 13 35642953 35642953 single base substitution G A intron_variant SKCA-BR 13 35642953 35642953 single base substitution G A upstream_gene_variant SKCA-BR 13 35643114 35643114 single base substitution G A intron_variant SKCA-BR 13 35643114 35643114 single base substitution G A upstream_gene_variant SKCA-BR 13 35644458 35644458 single base substitution C T intron_variant SKCA-BR 13 35644860 35644860 single base substitution T G exon_variant SKCA-BR 13 35644860 35644860 single base substitution T G missense_variant V481G 1442T>G SKCA-BR 13 35646633 35646633 single base substitution C T downstream_gene_variant SKCA-BR 13 35646633 35646633 single base substitution C T intron_variant SKCA-BR 13 35647987 35647987 single base substitution G A downstream_gene_variant SKCA-BR 13 35647987 35647987 single base substitution G A intron_variant SKCA-BR 13 35650152 35650152 single base substitution G A intron_variant SKCA-BR 13 35651258 35651258 single base substitution G T intron_variant SKCA-BR 13 35651444 35651444 single base substitution C T intron_variant SKCA-BR 13 35652731 35652731 single base substitution C T intron_variant SKCA-BR 13 35652783 35652783 single base substitution C T intron_variant SKCA-BR 13 35653145 35653145 single base substitution G A intron_variant SKCA-BR 13 35653494 35653494 single base substitution G A intron_variant SKCA-BR 13 35654417 35654417 single base substitution C T intron_variant SKCA-BR 13 35654548 35654548 single base substitution G A intron_variant SKCA-BR 13 35654570 35654570 single base substitution C T intron_variant SKCA-BR 13 35655717 35655717 single base substitution A G intron_variant SKCA-BR 13 35656057 35656058 deletion of <=200bp CT - intron_variant SKCA-BR 13 35658008 35658008 single base substitution G A intron_variant SKCA-BR 13 35659386 35659386 single base substitution C T intron_variant SKCA-BR 13 35662079 35662079 single base substitution G A intron_variant SKCA-BR 13 35664053 35664053 single base substitution G A intron_variant SKCA-BR 13 35664057 35664057 single base substitution G T intron_variant SKCA-BR 13 35664064 35664064 single base substitution G T intron_variant SKCA-BR 13 35664067 35664067 single base substitution G C intron_variant SKCA-BR 13 35664198 35664198 insertion of <=200bp - AAAATAAATAAAT intron_variant SKCA-BR 13 35665793 35665793 single base substitution A G intron_variant SKCA-BR 13 35667825 35667825 single base substitution C T intron_variant SKCA-BR 13 35668769 35668769 single base substitution G A intron_variant SKCA-BR 13 35671410 35671410 single base substitution C T intron_variant SKCA-BR 13 35672278 35672278 single base substitution T A intron_variant SKCA-BR 13 35672335 35672335 single base substitution G A intron_variant SKCA-BR 13 35673028 35673028 single base substitution C T intron_variant SKCA-BR 13 35673290 35673290 single base substitution C T intron_variant SKCA-BR 13 35673291 35673291 single base substitution C T intron_variant SKCA-BR 13 35674833 35674833 single base substitution C T intron_variant SKCA-BR 13 35674975 35674975 single base substitution C T intron_variant SKCA-BR 13 35675115 35675115 single base substitution C T intron_variant SKCA-BR 13 35675669 35675669 single base substitution C T intron_variant SKCA-BR 13 35676060 35676060 single base substitution T C intron_variant SKCA-BR 13 35677823 35677823 single base substitution C T intron_variant SKCA-BR 13 35678075 35678075 single base substitution C T intron_variant SKCA-BR 13 35679035 35679035 single base substitution T A intron_variant SKCA-BR 13 35679363 35679363 single base substitution C T intron_variant SKCA-BR 13 35679549 35679549 single base substitution C T intron_variant SKCA-BR 13 35679963 35679963 single base substitution T A intron_variant SKCA-BR 13 35680126 35680126 single base substitution T C intron_variant SKCA-BR 13 35680196 35680196 single base substitution A T intron_variant SKCA-BR 13 35680491 35680491 single base substitution G A intron_variant SKCA-BR 13 35681002 35681002 single base substitution T A intron_variant SKCA-BR 13 35681588 35681588 single base substitution C T intron_variant SKCA-BR 13 35682246 35682246 single base substitution C T intron_variant SKCA-BR 13 35682728 35682728 single base substitution T A intron_variant SKCA-BR 13 35684188 35684189 deletion of <=200bp TA - intron_variant SKCA-BR 13 35684777 35684778 deletion of <=200bp AT - intron_variant SKCA-BR 13 35686537 35686537 single base substitution C T intron_variant SKCA-BR 13 35687140 35687140 single base substitution G A intron_variant SKCA-BR 13 35687666 35687666 single base substitution G A intron_variant SKCA-BR 13 35687723 35687723 insertion of <=200bp - CATCTATCT intron_variant SKCA-BR 13 35687849 35687849 single base substitution G A intron_variant SKCA-BR 13 35688037 35688037 single base substitution G A intron_variant SKCA-BR 13 35688602 35688602 single base substitution C T intron_variant SKCA-BR 13 35691181 35691181 single base substitution G A intron_variant SKCA-BR 13 35691537 35691537 single base substitution C T intron_variant SKCA-BR 13 35692065 35692065 single base substitution G A intron_variant SKCA-BR 13 35692866 35692867 deletion of <=200bp AT - intron_variant SKCA-BR 13 35693578 35693578 single base substitution C T intron_variant SKCA-BR 13 35693817 35693817 single base substitution G A intron_variant SKCA-BR 13 35694638 35694638 single base substitution G A intron_variant SKCA-BR 13 35698982 35698982 single base substitution G A intron_variant SKCA-BR 13 35699736 35699736 single base substitution C T intron_variant SKCA-BR 13 35703658 35703658 single base substitution G A intron_variant SKCA-BR 13 35706169 35706169 single base substitution C T intron_variant SKCA-BR 13 35706269 35706269 single base substitution C T intron_variant SKCA-BR 13 35706358 35706358 single base substitution G A intron_variant SKCA-BR 13 35706529 35706529 single base substitution T G intron_variant SKCA-BR 13 35706868 35706868 single base substitution G A intron_variant SKCA-BR 13 35710588 35710588 single base substitution C T intron_variant SKCA-BR 13 35710773 35710774 deletion of <=200bp GT - intron_variant SKCA-BR 13 35711208 35711208 single base substitution A G intron_variant SKCA-BR 13 35711310 35711310 single base substitution G A intron_variant SKCA-BR 13 35711545 35711545 single base substitution C T intron_variant SKCA-BR 13 35712194 35712194 single base substitution G A intron_variant SKCA-BR 13 35713575 35713575 single base substitution A T intron_variant SKCA-BR 13 35714817 35714817 single base substitution G A intron_variant SKCA-BR 13 35715007 35715007 single base substitution C T intron_variant SKCA-BR 13 35715624 35715624 single base substitution G A intron_variant SKCA-BR 13 35715657 35715657 single base substitution C T intron_variant SKCA-BR 13 35716700 35716700 insertion of <=200bp - AT intron_variant SKCA-BR 13 35717381 35717381 single base substitution G A intron_variant SKCA-BR 13 35719467 35719467 single base substitution C T intron_variant SKCA-BR 13 35719664 35719664 single base substitution C T intron_variant SKCA-BR 13 35721832 35721832 single base substitution G A intron_variant SKCA-BR 13 35722142 35722142 single base substitution G A intron_variant SKCA-BR 13 35722841 35722841 single base substitution A G intron_variant SKCA-BR 13 35722893 35722893 single base substitution C T intron_variant SKCA-BR 13 35724707 35724707 single base substitution C T intron_variant SKCA-BR 13 35724930 35724930 insertion of <=200bp - TTAGAG intron_variant SKCA-BR 13 35726925 35726925 single base substitution T G intron_variant SKCA-BR 13 35728924 35728924 single base substitution T G intron_variant SKCA-BR 13 35728954 35728954 single base substitution T A intron_variant SKCA-BR 13 35730458 35730458 single base substitution G A intron_variant SKCA-BR 13 35730477 35730477 single base substitution C T intron_variant SKCA-BR 13 35731842 35731842 single base substitution C T intron_variant SKCA-BR 13 35731964 35731964 single base substitution T C intron_variant SKCA-BR 13 35734045 35734045 single base substitution C T missense_variant S1246F 3737C>T SKCA-BR 13 35734360 35734360 single base substitution C T intron_variant SKCA-BR 13 35735300 35735300 single base substitution C T intron_variant SKCA-BR 13 35738455 35738455 single base substitution A G intron_variant SKCA-BR 13 35738514 35738514 single base substitution G A missense_variant M1367I 4101G>A SKCA-BR 13 35740348 35740348 single base substitution G C intron_variant SKCA-BR 13 35742627 35742627 single base substitution C T intron_variant SKCA-BR 13 35749938 35749938 single base substitution G A intron_variant SKCA-BR 13 35753674 35753674 single base substitution A T intron_variant SKCA-BR 13 35755125 35755125 single base substitution G A intron_variant SKCA-BR 13 35756019 35756019 single base substitution C T intron_variant SKCA-BR 13 35756142 35756142 single base substitution T A intron_variant SKCA-BR 13 35757139 35757139 single base substitution A T intron_variant SKCA-BR 13 35757379 35757379 single base substitution C T intron_variant SKCA-BR 13 35758782 35758782 single base substitution C T intron_variant SKCA-BR 13 35759013 35759013 single base substitution C T intron_variant SKCA-BR 13 35759589 35759589 single base substitution G A intron_variant SKCA-BR 13 35760445 35760445 single base substitution G A intron_variant SKCA-BR 13 35765144 35765144 single base substitution C T intron_variant SKCA-BR 13 35765222 35765222 single base substitution C T intron_variant SKCA-BR 13 35765384 35765384 single base substitution C T intron_variant SKCA-BR 13 35766130 35766130 single base substitution G A intron_variant SKCA-BR 13 35766840 35766840 single base substitution C T intron_variant SKCA-BR 13 35767436 35767436 single base substitution C T intron_variant SKCA-BR 13 35769296 35769296 single base substitution G A intron_variant SKCA-BR 13 35769527 35769527 single base substitution C T intron_variant SKCA-BR 13 35770771 35770771 single base substitution G A intron_variant SKCA-BR 13 35771639 35771639 single base substitution C T intron_variant SKCA-BR 13 35775012 35775012 single base substitution G A intron_variant SKCA-BR 13 35775176 35775176 single base substitution C T intron_variant SKCA-BR 13 35779038 35779038 single base substitution G A intron_variant SKCA-BR 13 35780769 35780769 insertion of <=200bp - CA intron_variant SKCA-BR 13 35782305 35782305 single base substitution C T intron_variant SKCA-BR 13 35782574 35782574 single base substitution C T intron_variant SKCA-BR 13 35784924 35784924 single base substitution C T intron_variant SKCA-BR 13 35787265 35787265 single base substitution T C intron_variant SKCA-BR 13 35792492 35792492 single base substitution C T intron_variant SKCA-BR 13 35793135 35793135 single base substitution C T intron_variant SKCA-BR 13 35794919 35794919 single base substitution C T intron_variant SKCA-BR 13 35800739 35800739 single base substitution G A intron_variant SKCA-BR 13 35801266 35801266 single base substitution A T intron_variant SKCA-BR 13 35801716 35801716 single base substitution G A intron_variant SKCA-BR 13 35801987 35801987 single base substitution G A intron_variant SKCA-BR 13 35802944 35802944 single base substitution A T intron_variant SKCA-BR 13 35803202 35803202 single base substitution C T intron_variant SKCA-BR 13 35804693 35804693 single base substitution C T intron_variant SKCA-BR 13 35806006 35806006 single base substitution C T intron_variant SKCA-BR 13 35806007 35806007 single base substitution C T intron_variant SKCA-BR 13 35808267 35808267 single base substitution G A intron_variant SKCA-BR 13 35808579 35808579 single base substitution C T intron_variant SKCA-BR 13 35808601 35808601 single base substitution C T intron_variant SKCA-BR 13 35809533 35809533 single base substitution C T intron_variant SKCA-BR 13 35811118 35811118 single base substitution C T intron_variant SKCA-BR 13 35815005 35815005 single base substitution G A intron_variant SKCA-BR 13 35816355 35816355 single base substitution G A intron_variant SKCA-BR 13 35816653 35816653 single base substitution C T intron_variant SKCA-BR 13 35817573 35817573 single base substitution G A intron_variant SKCA-BR 13 35818059 35818059 single base substitution C T intron_variant SKCA-BR 13 35819073 35819073 single base substitution C T intron_variant SKCA-BR 13 35819489 35819489 single base substitution C T intron_variant SKCA-BR 13 35821485 35821485 single base substitution C T intron_variant SKCA-BR 13 35822315 35822315 single base substitution C T intron_variant SKCA-BR 13 35823084 35823084 single base substitution C T intron_variant SKCA-BR 13 35825621 35825621 single base substitution G A intron_variant SKCA-BR 13 35826288 35826288 single base substitution G A intron_variant SKCA-BR 13 35827832 35827832 single base substitution A G intron_variant SKCA-BR 13 35830690 35830690 single base substitution C T intron_variant SKCA-BR 13 35835871 35835871 single base substitution G A intron_variant SKCA-BR 13 35837301 35837301 single base substitution G A intron_variant SKCA-BR 13 35838552 35838552 single base substitution C T intron_variant SKCA-BR 13 35839024 35839024 single base substitution G A intron_variant SKCA-BR 13 35840511 35840511 single base substitution G A intron_variant SKCA-BR 13 35840781 35840781 single base substitution G A intron_variant SKCA-BR 13 35843659 35843659 single base substitution G A intron_variant SKCA-BR 13 35844429 35844429 single base substitution C T intron_variant SKCA-BR 13 35846327 35846327 single base substitution G A intron_variant SKCA-BR 13 35847775 35847775 single base substitution G A intron_variant SKCA-BR 13 35851784 35851784 single base substitution A G intron_variant SKCA-BR 13 35854796 35854796 single base substitution G A intron_variant SKCA-BR 13 35854912 35854912 insertion of <=200bp - AT intron_variant SKCA-BR 13 35855911 35855911 single base substitution G A intron_variant SKCA-BR 13 35856368 35856368 single base substitution T G intron_variant SKCA-BR 13 35857276 35857276 single base substitution T C intron_variant SKCA-BR 13 35858124 35858124 insertion of <=200bp - GACACAC intron_variant SKCA-BR 13 35858961 35858961 single base substitution C T intron_variant SKCA-BR 13 35859713 35859713 single base substitution C T intron_variant SKCA-BR 13 35861449 35861449 single base substitution C T intron_variant SKCA-BR 13 35863106 35863106 single base substitution C T intron_variant SKCA-BR 13 35863950 35863950 single base substitution G A intron_variant SKCA-BR 13 35864783 35864783 single base substitution C T intron_variant SKCA-BR 13 35865684 35865684 single base substitution A T intron_variant SKCA-BR 13 35865791 35865791 single base substitution T C intron_variant SKCA-BR 13 35870223 35870223 single base substitution C T intron_variant SKCA-BR 13 35870771 35870771 single base substitution C T intron_variant SKCA-BR 13 35870879 35870879 insertion of <=200bp - CTA intron_variant SKCA-BR 13 35872089 35872089 single base substitution G A intron_variant SKCA-BR 13 35872346 35872360 deletion of <=200bp GTGTATATATATATA - intron_variant SKCA-BR 13 35872348 35872348 single base substitution G A intron_variant SKCA-BR 13 35872350 35872350 single base substitution A G intron_variant SKCA-BR 13 35872374 35872386 deletion of <=200bp ATATATATATATG - intron_variant SKCA-BR 13 35874180 35874180 single base substitution C T intron_variant SKCA-BR 13 35875486 35875486 single base substitution C T intron_variant SKCA-BR 13 35875546 35875546 single base substitution A G intron_variant SKCA-BR 13 35877884 35877884 single base substitution C T intron_variant SKCA-BR 13 35878028 35878028 single base substitution C T intron_variant SKCA-BR 13 35878057 35878057 single base substitution C T intron_variant SKCA-BR 13 35879419 35879419 single base substitution G A intron_variant SKCA-BR 13 35881890 35881890 single base substitution G A intron_variant SKCA-BR 13 35882591 35882591 single base substitution A G intron_variant SKCA-BR 13 35882597 35882597 single base substitution A G intron_variant SKCA-BR 13 35882647 35882649 deletion of <=200bp ATG - intron_variant SKCA-BR 13 35882703 35882705 deletion of <=200bp GTA - intron_variant SKCA-BR 13 35883778 35883778 single base substitution C T intron_variant SKCA-BR 13 35885638 35885638 single base substitution G A intron_variant SKCA-BR 13 35888304 35888304 single base substitution T G intron_variant SKCA-BR 13 35888306 35888306 single base substitution A C intron_variant SKCA-BR 13 35888703 35888703 single base substitution T C intron_variant SKCA-BR 13 35891044 35891044 single base substitution C T intron_variant SKCA-BR 13 35891140 35891140 single base substitution G A intron_variant SKCA-BR 13 35892680 35892680 single base substitution G A intron_variant SKCA-BR 13 35893739 35893739 single base substitution A G intron_variant SKCA-BR 13 35895844 35895844 single base substitution C T intron_variant SKCA-BR 13 35898228 35898228 single base substitution T G intron_variant SKCA-BR 13 35901934 35901934 single base substitution G A intron_variant SKCA-BR 13 35903103 35903103 single base substitution G A intron_variant SKCA-BR 13 35904043 35904043 single base substitution T C intron_variant SKCA-BR 13 35906875 35906875 single base substitution A G intron_variant SKCA-BR 13 35907067 35907067 single base substitution G A intron_variant SKCA-BR 13 35907074 35907074 single base substitution G A intron_variant SKCA-BR 13 35907107 35907107 single base substitution C T intron_variant SKCA-BR 13 35908664 35908664 single base substitution C T intron_variant SKCA-BR 13 35913744 35913744 single base substitution C T intron_variant SKCA-BR 13 35914419 35914419 single base substitution A G intron_variant SKCA-BR 13 35934082 35934082 single base substitution T G intron_variant SKCA-BR 13 35937640 35937640 single base substitution C T intron_variant SKCA-BR 13 35938666 35938666 single base substitution T C intron_variant SKCA-BR 13 35939938 35939938 single base substitution C T intron_variant SKCA-BR 13 35944529 35944529 single base substitution T C intron_variant SKCA-BR 13 35945220 35945220 single base substitution G A intron_variant SKCA-BR 13 35945646 35945646 single base substitution G A intron_variant SKCA-BR 13 35946037 35946037 single base substitution C T intron_variant SKCA-BR 13 35946306 35946306 single base substitution C T intron_variant SKCA-BR 13 35947244 35947244 single base substitution C T intron_variant SKCA-BR 13 35948228 35948228 single base substitution C T intron_variant SKCA-BR 13 35950403 35950403 single base substitution C T intron_variant SKCA-BR 13 35950431 35950431 single base substitution G A intron_variant SKCA-BR 13 35951091 35951091 single base substitution C T intron_variant SKCA-BR 13 35951600 35951600 single base substitution T C intron_variant SKCA-BR 13 35956435 35956435 single base substitution C T intron_variant SKCA-BR 13 35959566 35959566 single base substitution G C intron_variant SKCA-BR 13 35960468 35960468 single base substitution C T intron_variant SKCA-BR 13 35962114 35962114 single base substitution C A intron_variant SKCA-BR 13 35969450 35969450 single base substitution C T intron_variant SKCA-BR 13 35969771 35969771 single base substitution T G intron_variant SKCA-BR 13 35970027 35970027 single base substitution C T intron_variant SKCA-BR 13 35972061 35972061 single base substitution G A intron_variant SKCA-BR 13 35972425 35972425 single base substitution T G intron_variant SKCA-BR 13 35972861 35972861 single base substitution C T intron_variant SKCA-BR 13 35974157 35974160 deletion of <=200bp TGTA - intron_variant SKCA-BR 13 35974925 35974925 single base substitution T C intron_variant SKCA-BR 13 35975949 35975949 single base substitution C T intron_variant SKCA-BR 13 35977419 35977419 single base substitution C T intron_variant SKCA-BR 13 35979594 35979594 single base substitution C T intron_variant SKCA-BR 13 35980506 35980506 single base substitution C T intron_variant SKCA-BR 13 35981709 35981709 single base substitution G A intron_variant SKCA-BR 13 35983226 35983226 single base substitution C T intron_variant SKCA-BR 13 35984568 35984568 single base substitution G A intron_variant SKCA-BR 13 35985529 35985529 single base substitution T C intron_variant SKCA-BR 13 35985784 35985784 insertion of <=200bp - TTTG intron_variant SKCA-BR 13 35986442 35986442 single base substitution A G intron_variant SKCA-BR 13 35987665 35987665 single base substitution G A intron_variant SKCA-BR 13 35989823 35989823 single base substitution C T intron_variant SKCA-BR 13 35989894 35989894 single base substitution C T intron_variant SKCA-BR 13 35989907 35989907 single base substitution A G intron_variant SKCA-BR 13 35989946 35989946 single base substitution A G intron_variant SKCA-BR 13 35990023 35990023 single base substitution C T intron_variant SKCA-BR 13 35990202 35990202 single base substitution G A intron_variant SKCA-BR 13 35990343 35990343 single base substitution C T intron_variant SKCA-BR 13 35990362 35990362 single base substitution T A intron_variant SKCA-BR 13 35990390 35990390 single base substitution C T intron_variant SKCA-BR 13 35990666 35990666 single base substitution G A intron_variant SKCA-BR 13 35991466 35991466 single base substitution G A intron_variant SKCA-BR 13 35991554 35991554 single base substitution G A intron_variant SKCA-BR 13 35992111 35992111 single base substitution G A intron_variant SKCA-BR 13 35992587 35992587 single base substitution G A intron_variant SKCA-BR 13 35992934 35992934 single base substitution G A intron_variant SKCA-BR 13 35993016 35993016 single base substitution A T intron_variant SKCA-BR 13 35993388 35993388 single base substitution G A intron_variant SKCA-BR 13 35996605 35996605 single base substitution G A intron_variant SKCA-BR 13 35996740 35996740 single base substitution T C intron_variant SKCA-BR 13 35996826 35996826 single base substitution G A intron_variant SKCA-BR 13 35996838 35996838 single base substitution C T intron_variant SKCA-BR 13 35997237 35997237 single base substitution T C intron_variant SKCA-BR 13 35997484 35997484 single base substitution C T intron_variant SKCA-BR 13 35998118 35998118 single base substitution G A intron_variant SKCA-BR 13 36000559 36000559 single base substitution G A intron_variant SKCA-BR 13 36000672 36000672 single base substitution C T intron_variant SKCA-BR 13 36000809 36000809 single base substitution C T intron_variant SKCA-BR 13 36000846 36000846 single base substitution G A intron_variant SKCA-BR 13 36001385 36001385 single base substitution C T intron_variant SKCA-BR 13 36001479 36001479 single base substitution C T intron_variant SKCA-BR 13 36003516 36003516 single base substitution T C intron_variant SKCA-BR 13 36004185 36004185 single base substitution C T intron_variant SKCA-BR 13 36004714 36004714 single base substitution C T intron_variant SKCA-BR 13 36005447 36005447 single base substitution G A intron_variant SKCA-BR 13 36005622 36005622 single base substitution C T intron_variant SKCA-BR 13 36005953 36005953 single base substitution C T intron_variant SKCA-BR 13 36008027 36008027 single base substitution C T intron_variant SKCA-BR 13 36008550 36008550 single base substitution C T intron_variant SKCA-BR 13 36010070 36010070 single base substitution C T intron_variant SKCA-BR 13 36010838 36010838 single base substitution C T intron_variant SKCA-BR 13 36012221 36012221 single base substitution C T intron_variant SKCA-BR 13 36013358 36013358 single base substitution C T intron_variant SKCA-BR 13 36013365 36013365 single base substitution G A intron_variant SKCA-BR 13 36014237 36014237 single base substitution G A intron_variant SKCA-BR 13 36014274 36014274 single base substitution C T intron_variant SKCA-BR 13 36014706 36014706 single base substitution G T intron_variant SKCA-BR 13 36014805 36014805 single base substitution A T intron_variant SKCA-BR 13 36015107 36015107 single base substitution G A intron_variant SKCA-BR 13 36015108 36015108 single base substitution G A intron_variant SKCA-BR 13 36015453 36015453 single base substitution C T intron_variant SKCA-BR 13 36016322 36016323 deletion of <=200bp CT - intron_variant SKCA-BR 13 36016494 36016494 single base substitution G A intron_variant SKCA-BR 13 36021567 36021567 single base substitution G A intron_variant SKCA-BR 13 36021983 36021983 single base substitution T A intron_variant SKCA-BR 13 36022125 36022125 single base substitution G A intron_variant SKCA-BR 13 36022605 36022605 single base substitution G A intron_variant SKCA-BR 13 36022895 36022895 single base substitution G A intron_variant SKCA-BR 13 36022935 36022937 deletion of <=200bp CAT - intron_variant SKCA-BR 13 36023609 36023609 single base substitution G A intron_variant SKCA-BR 13 36023625 36023625 single base substitution A T intron_variant SKCA-BR 13 36024415 36024415 single base substitution C T intron_variant SKCA-BR 13 36024556 36024556 single base substitution C T intron_variant SKCA-BR 13 36024836 36024836 single base substitution C T intron_variant SKCA-BR 13 36024853 36024853 single base substitution A T intron_variant SKCA-BR 13 36024855 36024855 single base substitution C T intron_variant SKCA-BR 13 36025351 36025351 single base substitution C T intron_variant SKCA-BR 13 36026794 36026794 single base substitution T G intron_variant SKCA-BR 13 36027493 36027493 single base substitution C T intron_variant SKCA-BR 13 36029662 36029662 single base substitution G A intron_variant SKCA-BR 13 36030417 36030417 single base substitution C T intron_variant SKCA-BR 13 36031121 36031121 insertion of <=200bp - TTA intron_variant SKCA-BR 13 36031555 36031555 single base substitution C T intron_variant SKCA-BR 13 36031979 36031979 single base substitution C T intron_variant SKCA-BR 13 36032120 36032120 single base substitution G A intron_variant SKCA-BR 13 36032233 36032233 single base substitution G A intron_variant SKCA-BR 13 36033611 36033611 single base substitution G A intron_variant SKCA-BR 13 36033914 36033914 single base substitution G A intron_variant SKCA-BR 13 36035511 36035511 single base substitution T G intron_variant SKCA-BR 13 36039960 36039960 insertion of <=200bp - GT intron_variant SKCA-BR 13 36040058 36040058 single base substitution A C intron_variant SKCA-BR 13 36040618 36040618 single base substitution C T intron_variant SKCA-BR 13 36040630 36040630 single base substitution C T intron_variant SKCA-BR 13 36040758 36040758 single base substitution C G intron_variant SKCA-BR 13 36041057 36041057 single base substitution C T intron_variant SKCA-BR 13 36041898 36041898 single base substitution C T intron_variant SKCA-BR 13 36042731 36042731 single base substitution T C intron_variant SKCA-BR 13 36043258 36043258 single base substitution G A intron_variant SKCA-BR 13 36044286 36044286 single base substitution C T intron_variant SKCA-BR 13 36044825 36044825 single base substitution T C intron_variant SKCA-BR 13 36048644 36048644 single base substitution G A intron_variant SKCA-BR 13 36048644 36048644 single base substitution G A upstream_gene_variant SKCA-BR 13 36052350 36052350 single base substitution C T intron_variant SKCA-BR 13 36053070 36053070 single base substitution G A intron_variant SKCA-BR 13 36054174 36054174 single base substitution G A intron_variant SKCA-BR 13 36055041 36055041 single base substitution T A intron_variant SKCA-BR 13 36056378 36056378 single base substitution C T intron_variant SKCA-BR 13 36057276 36057276 single base substitution C T intron_variant SKCA-BR 13 36057930 36057930 single base substitution C T intron_variant SKCA-BR 13 36058415 36058415 single base substitution A G intron_variant SKCA-BR 13 36058417 36058417 single base substitution A G intron_variant SKCA-BR 13 36058419 36058419 single base substitution A G intron_variant SKCA-BR 13 36058819 36058820 deletion of <=200bp TA - intron_variant SKCA-BR 13 36059383 36059383 single base substitution A T intron_variant SKCA-BR 13 36059871 36059871 single base substitution C T intron_variant SKCA-BR 13 36062089 36062089 single base substitution G A intron_variant SKCA-BR 13 36062637 36062637 single base substitution G A intron_variant SKCA-BR 13 36065309 36065309 single base substitution G A intron_variant SKCA-BR 13 36066346 36066346 single base substitution G A intron_variant SKCA-BR 13 36066633 36066633 single base substitution C T intron_variant SKCA-BR 13 36067863 36067863 single base substitution C T intron_variant SKCA-BR 13 36069133 36069133 single base substitution G A intron_variant SKCA-BR 13 36069700 36069700 single base substitution C T intron_variant SKCA-BR 13 36074851 36074851 single base substitution C T intron_variant SKCA-BR 13 36075817 36075817 single base substitution T G intron_variant SKCA-BR 13 36076267 36076267 single base substitution G A intron_variant SKCA-BR 13 36076576 36076576 single base substitution G A intron_variant SKCA-BR 13 36076950 36076950 single base substitution G A intron_variant SKCA-BR 13 36078193 36078193 single base substitution G A intron_variant SKCA-BR 13 36081304 36081304 single base substitution G A intron_variant SKCA-BR 13 36081446 36081446 single base substitution C T intron_variant SKCA-BR 13 36081675 36081675 single base substitution C T intron_variant SKCA-BR 13 36081824 36081824 single base substitution C T intron_variant SKCA-BR 13 36081838 36081838 single base substitution A T intron_variant SKCA-BR 13 36082704 36082704 single base substitution G A intron_variant SKCA-BR 13 36083191 36083191 single base substitution G A intron_variant SKCA-BR 13 36083854 36083854 single base substitution G A intron_variant SKCA-BR 13 36085418 36085418 single base substitution C A intron_variant SKCA-BR 13 36085445 36085445 single base substitution G A intron_variant SKCA-BR 13 36087377 36087377 single base substitution G A intron_variant SKCA-BR 13 36088251 36088251 insertion of <=200bp - GA intron_variant SKCA-BR 13 36089212 36089212 single base substitution G A intron_variant SKCA-BR 13 36089998 36089998 single base substitution C T intron_variant SKCA-BR 13 36091260 36091260 single base substitution C T intron_variant SKCA-BR 13 36091590 36091591 deletion of <=200bp CT - intron_variant SKCA-BR 13 36091785 36091785 single base substitution C T intron_variant SKCA-BR 13 36092534 36092534 single base substitution C T intron_variant SKCA-BR 13 36095066 36095066 single base substitution C T intron_variant SKCA-BR 13 36095073 36095073 single base substitution G A intron_variant SKCA-BR 13 36097683 36097683 single base substitution G A intron_variant SKCA-BR 13 36098077 36098077 single base substitution C T intron_variant SKCA-BR 13 36098085 36098085 single base substitution T C intron_variant SKCA-BR 13 36100006 36100006 single base substitution C T intron_variant SKCA-BR 13 36104576 36104576 insertion of <=200bp - AAAAT intron_variant SKCA-BR 13 36104876 36104876 insertion of <=200bp - ATT intron_variant SKCA-BR 13 36105288 36105288 single base substitution C T intron_variant SKCA-BR 13 36105831 36105831 single base substitution T A intron_variant SKCA-BR 13 36106476 36106476 single base substitution C T intron_variant SKCA-BR 13 36109604 36109604 single base substitution A G intron_variant SKCA-BR 13 36110151 36110151 single base substitution G A intron_variant SKCA-BR 13 36111002 36111002 single base substitution G A intron_variant SKCA-BR 13 36111540 36111540 single base substitution T C intron_variant SKCA-BR 13 36114903 36114903 single base substitution A T intron_variant SKCA-BR 13 36116341 36116341 single base substitution T C intron_variant SKCA-BR 13 36116713 36116713 single base substitution C T intron_variant SKCA-BR 13 36117315 36117315 single base substitution G A intron_variant SKCA-BR 13 36117829 36117829 single base substitution G A intron_variant SKCA-BR 13 36119380 36119380 single base substitution C T intron_variant SKCA-BR 13 36119792 36119792 single base substitution C T intron_variant SKCA-BR 13 36121940 36121940 single base substitution C T intron_variant SKCA-BR 13 36121953 36121953 single base substitution G T intron_variant SKCA-BR 13 36122108 36122108 single base substitution T G intron_variant SKCA-BR 13 36122229 36122229 single base substitution C T intron_variant SKCA-BR 13 36122298 36122298 single base substitution G A intron_variant SKCA-BR 13 36122868 36122868 single base substitution C T intron_variant SKCA-BR 13 36124941 36124941 single base substitution G A intron_variant SKCA-BR 13 36125748 36125748 single base substitution C T intron_variant SKCA-BR 13 36127719 36127719 single base substitution G A intron_variant SKCA-BR 13 36130751 36130752 deletion of <=200bp TA - intron_variant SKCA-BR 13 36131000 36131000 single base substitution T C intron_variant SKCA-BR 13 36133288 36133288 single base substitution G A intron_variant SKCA-BR 13 36133753 36133753 single base substitution C T intron_variant SKCA-BR 13 36135686 36135686 single base substitution C T intron_variant SKCA-BR 13 36137268 36137268 insertion of <=200bp - GGAGATAGATAGATAGATA intron_variant SKCA-BR 13 36139488 36139488 single base substitution G A intron_variant SKCA-BR 13 36139871 36139871 single base substitution G A intron_variant SKCA-BR 13 36141188 36141188 single base substitution C T intron_variant SKCA-BR 13 36142121 36142121 single base substitution C T intron_variant SKCA-BR 13 36142357 36142357 single base substitution C T intron_variant SKCA-BR 13 36142852 36142852 single base substitution A T intron_variant SKCA-BR 13 36143616 36143616 single base substitution C T intron_variant SKCA-BR 13 36144330 36144330 single base substitution C T intron_variant SKCA-BR 13 36146675 36146675 single base substitution G A intron_variant SKCA-BR 13 36147758 36147758 single base substitution T A intron_variant SKCA-BR 13 36148431 36148431 insertion of <=200bp - TA intron_variant SKCA-BR 13 36148517 36148517 insertion of <=200bp - CAAAA intron_variant SKCA-BR 13 36148533 36148533 single base substitution C G intron_variant SKCA-BR 13 36148547 36148547 insertion of <=200bp - CAAAG intron_variant SKCA-BR 13 36150156 36150156 single base substitution C T intron_variant SKCA-BR 13 36150402 36150402 single base substitution C T intron_variant SKCA-BR 13 36151769 36151769 single base substitution C T intron_variant SKCA-BR 13 36152755 36152755 single base substitution C T intron_variant SKCA-BR 13 36154973 36154973 single base substitution C T intron_variant SKCA-BR 13 36155731 36155731 single base substitution G A intron_variant SKCA-BR 13 36156040 36156042 deletion of <=200bp AAG - intron_variant SKCA-BR 13 36158451 36158453 deletion of <=200bp CTT - intron_variant SKCA-BR 13 36159450 36159450 single base substitution C T intron_variant SKCA-BR 13 36159514 36159514 single base substitution C T intron_variant SKCA-BR 13 36159806 36159806 single base substitution C T intron_variant SKCA-BR 13 36160387 36160387 single base substitution G A intron_variant SKCA-BR 13 36161504 36161504 single base substitution G A intron_variant SKCA-BR 13 36161652 36161652 single base substitution G A intron_variant SKCA-BR 13 36163079 36163079 single base substitution G T intron_variant SKCA-BR 13 36163079 36163079 single base substitution G T upstream_gene_variant SKCA-BR 13 36163784 36163784 single base substitution G A intron_variant SKCA-BR 13 36163784 36163784 single base substitution G A upstream_gene_variant SKCA-BR 13 36163800 36163800 single base substitution G A intron_variant SKCA-BR 13 36163800 36163800 single base substitution G A upstream_gene_variant SKCA-BR 13 36165495 36165495 single base substitution C T intron_variant SKCA-BR 13 36165495 36165495 single base substitution C T upstream_gene_variant SKCA-BR 13 36171581 36171581 single base substitution C G intron_variant SKCA-BR 13 36172165 36172165 single base substitution C A intron_variant SKCA-BR 13 36172825 36172825 single base substitution G A intron_variant SKCA-BR 13 36175097 36175097 single base substitution T C intron_variant SKCA-BR 13 36176554 36176554 single base substitution C T intron_variant SKCA-BR 13 36177504 36177504 single base substitution C T intron_variant SKCA-BR 13 36177636 36177636 single base substitution G A intron_variant SKCA-BR 13 36179306 36179306 single base substitution T A intron_variant SKCA-BR 13 36179334 36179334 single base substitution C T intron_variant SKCA-BR 13 36181365 36181365 single base substitution G A intron_variant SKCA-BR 13 36181538 36181538 single base substitution G A intron_variant SKCA-BR 13 36181539 36181539 single base substitution G A intron_variant SKCA-BR 13 36182684 36182684 single base substitution G T intron_variant SKCA-BR 13 36183078 36183078 single base substitution C T intron_variant SKCA-BR 13 36184908 36184908 single base substitution G A intron_variant SKCA-BR 13 36185403 36185403 single base substitution G A intron_variant SKCA-BR 13 36185434 36185434 single base substitution G T intron_variant SKCA-BR 13 36186803 36186803 single base substitution C T intron_variant SKCA-BR 13 36186804 36186804 single base substitution C T intron_variant SKCA-BR 13 36187014 36187014 single base substitution C T intron_variant SKCA-BR 13 36187188 36187188 single base substitution G A intron_variant SKCA-BR 13 36188910 36188910 single base substitution A G intron_variant SKCA-BR 13 36190021 36190021 single base substitution C T intron_variant SKCA-BR 13 36190053 36190053 single base substitution C T intron_variant SKCA-BR 13 36191314 36191314 single base substitution G A intron_variant SKCA-BR 13 36192051 36192051 single base substitution C A intron_variant SKCA-BR 13 36193765 36193765 single base substitution G A intron_variant SKCA-BR 13 36194077 36194077 single base substitution C T intron_variant SKCA-BR 13 36195013 36195013 single base substitution T G intron_variant SKCA-BR 13 36195368 36195368 single base substitution C T intron_variant SKCA-BR 13 36198464 36198464 single base substitution C T intron_variant SKCA-BR 13 36200906 36200906 single base substitution T G intron_variant SKCA-BR 13 36201003 36201003 single base substitution A C intron_variant SKCA-BR 13 36201730 36201730 single base substitution T G intron_variant SKCA-BR 13 36201735 36201735 single base substitution C T intron_variant SKCA-BR 13 36203245 36203245 single base substitution T C intron_variant SKCA-BR 13 36203805 36203805 single base substitution C T intron_variant SKCA-BR 13 36204978 36204978 single base substitution G A intron_variant SKCA-BR 13 36205311 36205311 single base substitution A G intron_variant SKCA-BR 13 36206357 36206357 single base substitution G A intron_variant SKCA-BR 13 36208588 36208588 single base substitution G A intron_variant SKCA-BR 13 36208600 36208600 single base substitution C T intron_variant SKCA-BR 13 36209483 36209483 single base substitution C T intron_variant SKCA-BR 13 36209650 36209650 single base substitution A G intron_variant SKCA-BR 13 36210270 36210270 single base substitution C T intron_variant SKCA-BR 13 36210325 36210325 single base substitution T C intron_variant SKCA-BR 13 36212724 36212724 single base substitution C T intron_variant SKCA-BR 13 36213302 36213302 single base substitution G A intron_variant SKCA-BR 13 36213303 36213303 single base substitution G A intron_variant SKCA-BR 13 36213847 36213847 single base substitution G A intron_variant SKCA-BR 13 36214986 36214986 single base substitution T C intron_variant SKCA-BR 13 36215073 36215073 single base substitution G A intron_variant SKCA-BR 13 36216036 36216036 single base substitution T C intron_variant SKCA-BR 13 36216935 36216935 single base substitution C T intron_variant SKCA-BR 13 36217053 36217053 single base substitution G A intron_variant SKCA-BR 13 36217348 36217348 single base substitution C T intron_variant SKCA-BR 13 36217870 36217870 single base substitution T G intron_variant SKCA-BR 13 36218267 36218267 single base substitution G A intron_variant SKCA-BR 13 36218530 36218530 single base substitution C T intron_variant SKCA-BR 13 36218918 36218918 single base substitution C T intron_variant SKCA-BR 13 36219577 36219577 single base substitution G A intron_variant SKCA-BR 13 36219649 36219649 single base substitution C T intron_variant SKCA-BR 13 36219765 36219765 single base substitution G A intron_variant SKCA-BR 13 36220135 36220135 single base substitution T C intron_variant SKCA-BR 13 36220523 36220523 single base substitution C T intron_variant SKCA-BR 13 36220524 36220524 single base substitution C T intron_variant SKCA-BR 13 36221553 36221553 single base substitution C T intron_variant SKCA-BR 13 36223016 36223016 single base substitution A G intron_variant SKCA-BR 13 36223161 36223161 insertion of <=200bp - TA intron_variant SKCA-BR 13 36225184 36225184 single base substitution G A intron_variant SKCA-BR 13 36225250 36225250 single base substitution C T intron_variant SKCA-BR 13 36226000 36226000 single base substitution G A missense_variant M231I 693G>A SKCA-BR 13 36226000 36226000 single base substitution G A missense_variant M2650I 7950G>A SKCA-BR 13 36226000 36226000 single base substitution G A missense_variant M2653I 7959G>A SKCA-BR 13 36226000 36226000 single base substitution G A missense_variant M446I 1338G>A SKCA-BR 13 36226001 36226001 single base substitution G A missense_variant D232N 694G>A SKCA-BR 13 36226001 36226001 single base substitution G A missense_variant D2651N 7951G>A SKCA-BR 13 36226001 36226001 single base substitution G A missense_variant D2654N 7960G>A SKCA-BR 13 36226001 36226001 single base substitution G A missense_variant D447N 1339G>A SKCA-BR 13 36226477 36226478 deletion of <=200bp TA - intron_variant SKCA-BR 13 36226479 36226479 single base substitution A T intron_variant SKCA-BR 13 36226541 36226541 single base substitution T A intron_variant SKCA-BR 13 36228304 36228304 single base substitution G A intron_variant SKCA-BR 13 36228602 36228602 single base substitution C T intron_variant SKCA-BR 13 36228742 36228742 single base substitution C T intron_variant SKCA-BR 13 36229873 36229873 single base substitution C T synonymous_variant D2759D 8277C>T SKCA-BR 13 36229873 36229873 single base substitution C T synonymous_variant D2762D 8286C>T SKCA-BR 13 36229873 36229873 single base substitution C T synonymous_variant D340D 1020C>T SKCA-BR 13 36229873 36229873 single base substitution C T synonymous_variant D555D 1665C>T SKCA-BR 13 36229971 36229971 single base substitution C T intron_variant SKCA-BR 13 36230316 36230316 single base substitution C T intron_variant SKCA-BR 13 36234736 36234736 single base substitution C T intron_variant SKCA-BR 13 36234850 36234850 single base substitution C T intron_variant SKCA-BR 13 36235383 36235383 single base substitution A G intron_variant SKCA-BR 13 36235618 36235618 single base substitution G A intron_variant SKCA-BR 13 36236274 36236274 single base substitution C T intron_variant SKCA-BR 13 36236589 36236589 single base substitution G A intron_variant SKCA-BR 13 36237630 36237630 single base substitution C T intron_variant SKCA-BR 13 36239862 36239862 single base substitution C T intron_variant SKCA-BR 13 36240590 36240590 single base substitution G A intron_variant SKCA-BR 13 36240590 36240590 single base substitution G A upstream_gene_variant SKCA-BR 13 36243142 36243143 deletion of <=200bp AC - intron_variant SKCA-BR 13 36243142 36243143 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 13 36243575 36243575 single base substitution T A intron_variant SKCA-BR 13 36243575 36243575 single base substitution T A upstream_gene_variant SKCA-BR 13 36243854 36243854 single base substitution C T intron_variant SKCA-BR 13 36243854 36243854 single base substitution C T upstream_gene_variant SKCA-BR 13 36244615 36244615 single base substitution G A intron_variant SKCA-BR 13 36244615 36244615 single base substitution G A upstream_gene_variant SKCA-BR 13 36245507 36245507 single base substitution C T 3_prime_UTR_variant SKCA-BR 13 36245507 36245507 single base substitution C T intron_variant SKCA-BR 13 36247509 36247509 single base substitution C T downstream_gene_variant SKCA-BR 13 36248664 36248664 single base substitution C T downstream_gene_variant SKCA-BR 13 36249694 36249694 single base substitution A C downstream_gene_variant SKCA-BR 13 36250089 36250089 insertion of <=200bp - CCTT downstream_gene_variant SKCA-BR 13 36250400 36250400 single base substitution G A downstream_gene_variant SKCA-BR 13 36250745 36250745 single base substitution C T downstream_gene_variant SKCM-US 13 35517115 35517115 single base substitution C T missense_variant S53L 158C>T SKCM-US 13 35517126 35517126 single base substitution C T missense_variant P57S 169C>T SKCM-US 13 35615076 35615076 single base substitution G A missense_variant G101S 301G>A SKCM-US 13 35615185 35615185 single base substitution G A stop_gained W137* 410G>A SKCM-US 13 35615209 35615209 single base substitution G A missense_variant R145Q 434G>A SKCM-US 13 35619123 35619123 single base substitution G A missense_variant S189N 566G>A SKCM-US 13 35619164 35619164 single base substitution C T stop_gained R203* 607C>T SKCM-US 13 35619167 35619167 single base substitution G A missense_variant G204R 610G>A SKCM-US 13 35619181 35619181 single base substitution C G missense_variant I208M 624C>G SKCM-US 13 35619464 35619464 single base substitution T G missense_variant L217V 649T>G SKCM-US 13 35619500 35619500 single base substitution C T missense_variant P229S 685C>T SKCM-US 13 35624410 35624410 single base substitution C T missense_variant R284C 850C>T SKCM-US 13 35624492 35624492 single base substitution G A missense_variant G311D 932G>A SKCM-US 13 35630155 35630155 single base substitution G A missense_variant M327I 981G>A SKCM-US 13 35630184 35630184 single base substitution G A stop_gained W337* 1010G>A SKCM-US 13 35644078 35644078 single base substitution C T missense_variant H425Y 1273C>T SKCM-US 13 35644078 35644078 single base substitution C T upstream_gene_variant SKCM-US 13 35644114 35644114 single base substitution G A exon_variant SKCM-US 13 35644114 35644114 single base substitution G A missense_variant G437R 1309G>A SKCM-US 13 35644168 35644168 single base substitution C T exon_variant SKCM-US 13 35644168 35644168 single base substitution C T stop_gained Q455* 1363C>T SKCM-US 13 35644863 35644863 single base substitution A T exon_variant SKCM-US 13 35644863 35644863 single base substitution A T missense_variant K482I 1445A>T SKCM-US 13 35644898 35644898 single base substitution C T exon_variant SKCM-US 13 35644898 35644898 single base substitution C T missense_variant H494Y 1480C>T SKCM-US 13 35644928 35644928 single base substitution C T exon_variant SKCM-US 13 35644928 35644928 single base substitution C T missense_variant P504S 1510C>T SKCM-US 13 35684971 35684971 single base substitution T A missense_variant L620M 1858T>A SKCM-US 13 35692526 35692526 single base substitution C T missense_variant H720Y 2158C>T SKCM-US 13 35716405 35716405 single base substitution G A splice_acceptor_variant SKCM-US 13 35716442 35716442 single base substitution C T synonymous_variant F791F 2373C>T SKCM-US 13 35716467 35716467 single base substitution T C synonymous_variant L800L 2398T>C SKCM-US 13 35716493 35716493 single base substitution C G synonymous_variant T808T 2424C>G SKCM-US 13 35731359 35731359 single base substitution G A stop_gained W932* 2796G>A SKCM-US 13 35733271 35733271 single base substitution C T missense_variant S988L 2963C>T SKCM-US 13 35733303 35733303 single base substitution G A missense_variant E999K 2995G>A SKCM-US 13 35733382 35733382 single base substitution G A missense_variant R1025Q 3074G>A SKCM-US 13 35733681 35733681 single base substitution G A missense_variant D1125N 3373G>A SKCM-US 13 35733690 35733690 single base substitution C T missense_variant P1128S 3382C>T SKCM-US 13 35733730 35733730 single base substitution A G missense_variant N1141S 3422A>G SKCM-US 13 35733774 35733774 single base substitution G A missense_variant E1156K 3466G>A SKCM-US 13 35733844 35733844 single base substitution G A missense_variant G1179D 3536G>A SKCM-US 13 35733926 35733926 single base substitution A G synonymous_variant K1206K 3618A>G SKCM-US 13 35733949 35733949 single base substitution C T missense_variant S1214L 3641C>T SKCM-US 13 35735898 35735898 single base substitution T C synonymous_variant G1291G 3873T>C SKCM-US 13 35738574 35738574 single base substitution C T synonymous_variant S1387S 4161C>T SKCM-US 13 35743124 35743124 single base substitution G A intron_variant SKCM-US 13 35743124 35743124 single base substitution G A missense_variant G1412S 4234G>A SKCM-US 13 35745412 35745412 single base substitution G A missense_variant E1413K 4237G>A SKCM-US 13 35745412 35745412 single base substitution G A missense_variant E1416K 4246G>A SKCM-US 13 35745584 35745584 single base substitution G A missense_variant R1470K 4409G>A SKCM-US 13 35745584 35745584 single base substitution G A missense_variant R1473K 4418G>A SKCM-US 13 35747690 35747690 single base substitution C T stop_gained Q1502* 4504C>T SKCM-US 13 35747690 35747690 single base substitution C T stop_gained Q1505* 4513C>T SKCM-US 13 35751166 35751166 single base substitution C T missense_variant P1527S 4579C>T SKCM-US 13 35751166 35751166 single base substitution C T missense_variant P1530S 4588C>T SKCM-US 13 35756497 35756497 single base substitution G A missense_variant D1552N 4654G>A SKCM-US 13 35756497 35756497 single base substitution G A missense_variant D1555N 4663G>A SKCM-US 13 35756549 35756549 single base substitution C T missense_variant S1569L 4706C>T SKCM-US 13 35756549 35756549 single base substitution C T missense_variant S1572L 4715C>T SKCM-US 13 35756556 35756556 single base substitution G A synonymous_variant L1571L 4713G>A SKCM-US 13 35756556 35756556 single base substitution G A synonymous_variant L1574L 4722G>A SKCM-US 13 35756611 35756611 single base substitution G A missense_variant G1590R 4768G>A SKCM-US 13 35756611 35756611 single base substitution G A missense_variant G1593R 4777G>A SKCM-US 13 35758160 35758160 single base substitution C T missense_variant L1624F 4870C>T SKCM-US 13 35758160 35758160 single base substitution C T missense_variant L1627F 4879C>T SKCM-US 13 35770018 35770018 single base substitution C T missense_variant P1646S 4936C>T SKCM-US 13 35770018 35770018 single base substitution C T missense_variant P1649S 4945C>T SKCM-US 13 35770194 35770194 single base substitution G A synonymous_variant L1704L 5112G>A SKCM-US 13 35770194 35770194 single base substitution G A synonymous_variant L1707L 5121G>A SKCM-US 13 35770382 35770382 single base substitution C T missense_variant P1767L 5300C>T SKCM-US 13 35770382 35770382 single base substitution C T missense_variant P1770L 5309C>T SKCM-US 13 35883726 35883726 single base substitution G A missense_variant G1964E 5891G>A SKCM-US 13 35883726 35883726 single base substitution G A missense_variant G1967E 5900G>A SKCM-US 13 35926330 35926330 single base substitution G A missense_variant E2014K 6040G>A SKCM-US 13 35926330 35926330 single base substitution G A missense_variant E2017K 6049G>A SKCM-US 13 36006465 36006465 single base substitution G A missense_variant R2077Q 6230G>A SKCM-US 13 36006465 36006465 single base substitution G A missense_variant R2080Q 6239G>A SKCM-US 13 36006489 36006489 single base substitution C T missense_variant S2085F 6254C>T SKCM-US 13 36006489 36006489 single base substitution C T missense_variant S2088F 6263C>T SKCM-US 13 36026303 36026303 single base substitution G A missense_variant E2124K 6370G>A SKCM-US 13 36026303 36026303 single base substitution G A missense_variant E2127K 6379G>A SKCM-US 13 36026318 36026318 single base substitution G A missense_variant G2129R 6385G>A SKCM-US 13 36026318 36026318 single base substitution G A missense_variant G2132R 6394G>A SKCM-US 13 36046664 36046664 single base substitution C T synonymous_variant I2189I 6567C>T SKCM-US 13 36046664 36046664 single base substitution C T synonymous_variant I2192I 6576C>T SKCM-US 13 36046664 36046664 single base substitution C T upstream_gene_variant SKCM-US 13 36049657 36049657 single base substitution C T intron_variant SKCM-US 13 36049657 36049657 single base substitution C T upstream_gene_variant SKCM-US 13 36049679 36049679 single base substitution C T intron_variant SKCM-US 13 36049679 36049679 single base substitution C T upstream_gene_variant SKCM-US 13 36049943 36049943 single base substitution G A intron_variant SKCM-US 13 36049943 36049943 single base substitution G A upstream_gene_variant SKCM-US 13 36050131 36050131 single base substitution C T intron_variant SKCM-US 13 36050131 36050131 single base substitution C T upstream_gene_variant SKCM-US 13 36050146 36050146 single base substitution C T intron_variant SKCM-US 13 36050146 36050146 single base substitution C T upstream_gene_variant SKCM-US 13 36124641 36124641 single base substitution G A 5_prime_UTR_variant SKCM-US 13 36124641 36124641 single base substitution G A missense_variant G2202R 6604G>A SKCM-US 13 36124641 36124641 single base substitution G A missense_variant G2205R 6613G>A SKCM-US 13 36124729 36124729 single base substitution G A missense_variant R2231Q 6692G>A SKCM-US 13 36124729 36124729 single base substitution G A missense_variant R2234Q 6701G>A SKCM-US 13 36124729 36124729 single base substitution G A missense_variant R27Q 80G>A SKCM-US 13 36125086 36125086 single base substitution C T synonymous_variant F2238F 6714C>T SKCM-US 13 36125086 36125086 single base substitution C T synonymous_variant F2241F 6723C>T SKCM-US 13 36125086 36125086 single base substitution C T synonymous_variant F34F 102C>T SKCM-US 13 36125135 36125135 single base substitution G A missense_variant G2255R 6763G>A SKCM-US 13 36125135 36125135 single base substitution G A missense_variant G2258R 6772G>A SKCM-US 13 36125135 36125135 single base substitution G A missense_variant G51R 151G>A SKCM-US 13 36129141 36129141 single base substitution C T missense_variant T2272I 6815C>T SKCM-US 13 36129141 36129141 single base substitution C T missense_variant T2275I 6824C>T SKCM-US 13 36129141 36129141 single base substitution C T missense_variant T68I 203C>T SKCM-US 13 36129146 36129146 single base substitution C T stop_gained R2274* 6820C>T SKCM-US 13 36129146 36129146 single base substitution C T stop_gained R2277* 6829C>T SKCM-US 13 36129146 36129146 single base substitution C T stop_gained R70* 208C>T SKCM-US 13 36158062 36158062 single base substitution G A missense_variant A148T 442G>A SKCM-US 13 36158062 36158062 single base substitution G A missense_variant A2352T 7054G>A SKCM-US 13 36158062 36158062 single base substitution G A missense_variant A2355T 7063G>A SKCM-US 13 36158063 36158063 single base substitution C T missense_variant A148V 443C>T SKCM-US 13 36158063 36158063 single base substitution C T missense_variant A2352V 7055C>T SKCM-US 13 36158063 36158063 single base substitution C T missense_variant A2355V 7064C>T SKCM-US 13 36158098 36158098 single base substitution G A missense_variant D160N 478G>A SKCM-US 13 36158098 36158098 single base substitution G A missense_variant D2364N 7090G>A SKCM-US 13 36158098 36158098 single base substitution G A missense_variant D2367N 7099G>A SKCM-US 13 36167498 36167498 single base substitution G A 5_prime_UTR_variant SKCM-US 13 36167498 36167498 single base substitution G A missense_variant D197N 589G>A SKCM-US 13 36167498 36167498 single base substitution G A missense_variant D2401N 7201G>A SKCM-US 13 36167498 36167498 single base substitution G A missense_variant D2404N 7210G>A SKCM-US 13 36167502 36167502 single base substitution G A 5_prime_UTR_variant SKCM-US 13 36167502 36167502 single base substitution G A missense_variant G198E 593G>A SKCM-US 13 36167502 36167502 single base substitution G A missense_variant G2402E 7205G>A SKCM-US 13 36167502 36167502 single base substitution G A missense_variant G2405E 7214G>A SKCM-US 13 36180711 36180711 single base substitution G A missense_variant R2479K 7436G>A SKCM-US 13 36180711 36180711 single base substitution G A missense_variant R2482K 7445G>A SKCM-US 13 36180711 36180711 single base substitution G A missense_variant R275K 824G>A SKCM-US 13 36180711 36180711 single base substitution G A missense_variant R39K 116G>A SKCM-US 13 36220454 36220454 single base substitution C T missense_variant P137L 410C>T SKCM-US 13 36220454 36220454 single base substitution C T missense_variant P2556L 7667C>T SKCM-US 13 36220454 36220454 single base substitution C T missense_variant P2559L 7676C>T SKCM-US 13 36220454 36220454 single base substitution C T missense_variant P352L 1055C>T SKCM-US 13 36223797 36223797 single base substitution C T synonymous_variant F149F 447C>T SKCM-US 13 36223797 36223797 single base substitution C T synonymous_variant F2568F 7704C>T SKCM-US 13 36223797 36223797 single base substitution C T synonymous_variant F2571F 7713C>T SKCM-US 13 36223797 36223797 single base substitution C T synonymous_variant F364F 1092C>T SKCM-US 13 36223862 36223862 single base substitution T C missense_variant F171S 512T>C SKCM-US 13 36223862 36223862 single base substitution T C missense_variant F2590S 7769T>C SKCM-US 13 36223862 36223862 single base substitution T C missense_variant F2593S 7778T>C SKCM-US 13 36223862 36223862 single base substitution T C missense_variant F386S 1157T>C SKCM-US 13 36223864 36223864 single base substitution C T missense_variant P172S 514C>T SKCM-US 13 36223864 36223864 single base substitution C T missense_variant P2591S 7771C>T SKCM-US 13 36223864 36223864 single base substitution C T missense_variant P2594S 7780C>T SKCM-US 13 36223864 36223864 single base substitution C T missense_variant P387S 1159C>T SKCM-US 13 36229105 36229105 single base substitution G A missense_variant G2693R 8077G>A SKCM-US 13 36229105 36229105 single base substitution G A missense_variant G2696R 8086G>A SKCM-US 13 36229105 36229105 single base substitution G A missense_variant G274R 820G>A SKCM-US 13 36229105 36229105 single base substitution G A missense_variant G489R 1465G>A SKCM-US 13 36229125 36229125 single base substitution C T synonymous_variant F2699F 8097C>T SKCM-US 13 36229125 36229125 single base substitution C T synonymous_variant F2702F 8106C>T SKCM-US 13 36229125 36229125 single base substitution C T synonymous_variant F280F 840C>T SKCM-US 13 36229125 36229125 single base substitution C T synonymous_variant F495F 1485C>T SKCM-US 13 36229846 36229846 single base substitution G A stop_gained W2750* 8250G>A SKCM-US 13 36229846 36229846 single base substitution G A stop_gained W2753* 8259G>A SKCM-US 13 36229846 36229846 single base substitution G A stop_gained W331* 993G>A SKCM-US 13 36229846 36229846 single base substitution G A stop_gained W546* 1638G>A SKCM-US 13 36239231 36239231 single base substitution C T missense_variant P2767L 8300C>T SKCM-US 13 36239231 36239231 single base substitution C T missense_variant P2770L 8309C>T SKCM-US 13 36239231 36239231 single base substitution C T missense_variant P348L 1043C>T SKCM-US 13 36239231 36239231 single base substitution C T missense_variant P563L 1688C>T SKCM-US 13 36241532 36241532 single base substitution C T missense_variant T2805I 8414C>T SKCM-US 13 36241532 36241532 single base substitution C T missense_variant T2808I 8423C>T SKCM-US 13 36241532 36241532 single base substitution C T missense_variant T386I 1157C>T SKCM-US 13 36241532 36241532 single base substitution C T missense_variant T601I 1802C>T SKCM-US 13 36241532 36241532 single base substitution C T upstream_gene_variant SKCM-US 13 36241637 36241637 single base substitution G A missense_variant R2840Q 8519G>A SKCM-US 13 36241637 36241637 single base substitution G A missense_variant R2843Q 8528G>A SKCM-US 13 36241637 36241637 single base substitution G A missense_variant R421Q 1262G>A SKCM-US 13 36241637 36241637 single base substitution G A missense_variant R636Q 1907G>A SKCM-US 13 36241637 36241637 single base substitution G A upstream_gene_variant SKCM-US 13 36241668 36241668 single base substitution G A synonymous_variant G2850G 8550G>A SKCM-US 13 36241668 36241668 single base substitution G A synonymous_variant G2853G 8559G>A SKCM-US 13 36241668 36241668 single base substitution G A synonymous_variant G431G 1293G>A SKCM-US 13 36241668 36241668 single base substitution G A synonymous_variant G646G 1938G>A SKCM-US 13 36241668 36241668 single base substitution G A upstream_gene_variant SKCM-US 13 36241700 36241700 single base substitution C T missense_variant S2861L 8582C>T SKCM-US 13 36241700 36241700 single base substitution C T missense_variant S2864L 8591C>T SKCM-US 13 36241700 36241700 single base substitution C T missense_variant S442L 1325C>T SKCM-US 13 36241700 36241700 single base substitution C T missense_variant S657L 1970C>T SKCM-US 13 36241700 36241700 single base substitution C T upstream_gene_variant SKCM-US 13 36242548 36242548 single base substitution G A missense_variant G2878E 8633G>A SKCM-US 13 36242548 36242548 single base substitution G A missense_variant G2881E 8642G>A SKCM-US 13 36242548 36242548 single base substitution G A missense_variant G459E 1376G>A SKCM-US 13 36242548 36242548 single base substitution G A missense_variant G674E 2021G>A SKCM-US 13 36242548 36242548 single base substitution G A upstream_gene_variant SKCM-US 13 36242559 36242559 single base substitution G A missense_variant V2882I 8644G>A SKCM-US 13 36242559 36242559 single base substitution G A missense_variant V2885I 8653G>A SKCM-US 13 36242559 36242559 single base substitution G A missense_variant V463I 1387G>A SKCM-US 13 36242559 36242559 single base substitution G A missense_variant V678I 2032G>A SKCM-US 13 36242559 36242559 single base substitution G A upstream_gene_variant SKCM-US 13 36242644 36242644 single base substitution C T missense_variant S2910F 8729C>T SKCM-US 13 36242644 36242644 single base substitution C T missense_variant S2913F 8738C>T SKCM-US 13 36242644 36242644 single base substitution C T missense_variant S491F 1472C>T SKCM-US 13 36242644 36242644 single base substitution C T missense_variant S706F 2117C>T SKCM-US 13 36242644 36242644 single base substitution C T upstream_gene_variant SKCM-US 13 36242646 36242646 single base substitution C T missense_variant H2911Y 8731C>T SKCM-US 13 36242646 36242646 single base substitution C T missense_variant H2914Y 8740C>T SKCM-US 13 36242646 36242646 single base substitution C T missense_variant H492Y 1474C>T SKCM-US 13 36242646 36242646 single base substitution C T missense_variant H707Y 2119C>T SKCM-US 13 36242646 36242646 single base substitution C T upstream_gene_variant STAD-US 13 35517239 35517239 single base substitution G A synonymous_variant T94T 282G>A STAD-US 13 35517248 35517248 single base substitution C T synonymous_variant N97N 291C>T STAD-US 13 35644128 35644128 single base substitution T C exon_variant STAD-US 13 35644128 35644128 single base substitution T C synonymous_variant S441S 1323T>C STAD-US 13 35644947 35644947 single base substitution A T exon_variant STAD-US 13 35644947 35644947 single base substitution A T missense_variant D510V 1529A>T STAD-US 13 35685067 35685067 single base substitution T C missense_variant W652R 1954T>C STAD-US 13 35692531 35692531 single base substitution T C synonymous_variant D721D 2163T>C STAD-US 13 35692599 35692599 single base substitution G T missense_variant R744I 2231G>T STAD-US 13 35716483 35716483 single base substitution T C missense_variant V805A 2414T>C STAD-US 13 35731227 35731230 deletion of <=200bp GTGT - frameshift_variant QC888 STAD-US 13 35733215 35733215 single base substitution G T missense_variant E969D 2907G>T STAD-US 13 35733237 35733237 single base substitution A T stop_gained K977* 2929A>T STAD-US 13 35733293 35733293 single base substitution A C missense_variant K995N 2985A>C STAD-US 13 35733663 35733663 insertion of <=200bp - A frameshift_variant K1119K? STAD-US 13 35733851 35733851 single base substitution T C synonymous_variant S1181S 3543T>C STAD-US 13 35733985 35733985 single base substitution C T missense_variant A1226V 3677C>T STAD-US 13 35734077 35734077 single base substitution G A missense_variant A1257T 3769G>A STAD-US 13 35735957 35735957 single base substitution C G missense_variant P1311R 3932C>G STAD-US 13 35736024 35736024 insertion of <=200bp - T frameshift_variant E1333D? STAD-US 13 35738543 35738543 deletion of <=200bp T - frameshift_variant I1377 STAD-US 13 35738555 35738555 single base substitution A G missense_variant N1381S 4142A>G STAD-US 13 35756602 35756602 single base substitution A G missense_variant T1587A 4759A>G STAD-US 13 35756602 35756602 single base substitution A G missense_variant T1590A 4768A>G STAD-US 13 35756615 35756615 single base substitution G T missense_variant S1591I 4772G>T STAD-US 13 35756615 35756615 single base substitution G T missense_variant S1594I 4781G>T STAD-US 13 35758142 35758142 single base substitution A G missense_variant S1618G 4852A>G STAD-US 13 35758142 35758142 single base substitution A G missense_variant S1621G 4861A>G STAD-US 13 35770041 35770041 single base substitution A C missense_variant E1653D 4959A>C STAD-US 13 35770041 35770041 single base substitution A C missense_variant E1656D 4968A>C STAD-US 13 35770145 35770145 single base substitution T C missense_variant L1688S 5063T>C STAD-US 13 35770145 35770145 single base substitution T C missense_variant L1691S 5072T>C STAD-US 13 35782886 35782886 single base substitution A G missense_variant T1803A 5407A>G STAD-US 13 35782886 35782886 single base substitution A G missense_variant T1806A 5416A>G STAD-US 13 35782966 35782966 single base substitution A G synonymous_variant T1829T 5487A>G STAD-US 13 35782966 35782966 single base substitution A G synonymous_variant T1832T 5496A>G STAD-US 13 35883675 35883675 single base substitution A C missense_variant N1947T 5840A>C STAD-US 13 35883675 35883675 single base substitution A C missense_variant N1950T 5849A>C STAD-US 13 35923259 35923259 single base substitution C T missense_variant A1970V 5909C>T STAD-US 13 35923259 35923259 single base substitution C T missense_variant A1973V 5918C>T STAD-US 13 35926334 35926334 single base substitution A G missense_variant E2015G 6044A>G STAD-US 13 35926334 35926334 single base substitution A G missense_variant E2018G 6053A>G STAD-US 13 36006473 36006473 single base substitution C T missense_variant R2080C 6238C>T STAD-US 13 36006473 36006473 single base substitution C T missense_variant R2083C 6247C>T STAD-US 13 36006493 36006493 single base substitution T G synonymous_variant T2086T 6258T>G STAD-US 13 36006493 36006493 single base substitution T G synonymous_variant T2089T 6267T>G STAD-US 13 36006531 36006531 single base substitution G C splice_donor_variant STAD-US 13 36026370 36026370 single base substitution C T missense_variant A2146V 6437C>T STAD-US 13 36026370 36026370 single base substitution C T missense_variant A2149V 6446C>T STAD-US 13 36046612 36046612 single base substitution C T missense_variant T2172M 6515C>T STAD-US 13 36046612 36046612 single base substitution C T missense_variant T2175M 6524C>T STAD-US 13 36046612 36046612 single base substitution C T upstream_gene_variant STAD-US 13 36049251 36049251 single base substitution G A intron_variant STAD-US 13 36049251 36049251 single base substitution G A upstream_gene_variant STAD-US 13 36049332 36049332 single base substitution C T intron_variant STAD-US 13 36049332 36049332 single base substitution C T upstream_gene_variant STAD-US 13 36049335 36049335 single base substitution C A intron_variant STAD-US 13 36049335 36049335 single base substitution C A upstream_gene_variant STAD-US 13 36049356 36049356 single base substitution A C intron_variant STAD-US 13 36049356 36049356 single base substitution A C upstream_gene_variant STAD-US 13 36049497 36049497 single base substitution C T intron_variant STAD-US 13 36049497 36049497 single base substitution C T upstream_gene_variant STAD-US 13 36049602 36049602 single base substitution G A intron_variant STAD-US 13 36049602 36049602 single base substitution G A upstream_gene_variant STAD-US 13 36049681 36049681 single base substitution G A intron_variant STAD-US 13 36049681 36049681 single base substitution G A upstream_gene_variant STAD-US 13 36049748 36049748 single base substitution G A intron_variant STAD-US 13 36049748 36049748 single base substitution G A upstream_gene_variant STAD-US 13 36049800 36049800 single base substitution T G intron_variant STAD-US 13 36049800 36049800 single base substitution T G upstream_gene_variant STAD-US 13 36049807 36049807 single base substitution C T intron_variant STAD-US 13 36049807 36049807 single base substitution C T upstream_gene_variant STAD-US 13 36049843 36049843 single base substitution A T intron_variant STAD-US 13 36049843 36049843 single base substitution A T upstream_gene_variant STAD-US 13 36049858 36049870 deletion of <=200bp CCGCTTGAGCCAC - intron_variant STAD-US 13 36049858 36049870 deletion of <=200bp CCGCTTGAGCCAC - upstream_gene_variant STAD-US 13 36049859 36049859 single base substitution C T intron_variant STAD-US 13 36049859 36049859 single base substitution C T upstream_gene_variant STAD-US 13 36049942 36049942 single base substitution G C intron_variant STAD-US 13 36049942 36049942 single base substitution G C upstream_gene_variant STAD-US 13 36049983 36049983 single base substitution G A intron_variant STAD-US 13 36049983 36049983 single base substitution G A upstream_gene_variant STAD-US 13 36049997 36049997 single base substitution T G intron_variant STAD-US 13 36049997 36049997 single base substitution T G upstream_gene_variant STAD-US 13 36050268 36050268 single base substitution G A intron_variant STAD-US 13 36050268 36050268 single base substitution G A upstream_gene_variant STAD-US 13 36124666 36124666 single base substitution G A missense_variant R2210Q 6629G>A STAD-US 13 36124666 36124666 single base substitution G A missense_variant R2213Q 6638G>A STAD-US 13 36124666 36124666 single base substitution G A missense_variant R6Q 17G>A STAD-US 13 36125103 36125103 insertion of <=200bp - A frameshift_variant V2244D? STAD-US 13 36125103 36125103 insertion of <=200bp - A frameshift_variant V2247D? STAD-US 13 36125103 36125103 insertion of <=200bp - A frameshift_variant V40D? STAD-US 13 36125104 36125104 deletion of <=200bp A - frameshift_variant V2244 STAD-US 13 36125104 36125104 deletion of <=200bp A - frameshift_variant V2247 STAD-US 13 36125104 36125104 deletion of <=200bp A - frameshift_variant V40 STAD-US 13 36125104 36125104 insertion of <=200bp - A frameshift_variant V2244V? STAD-US 13 36125104 36125104 insertion of <=200bp - A frameshift_variant V2247V? STAD-US 13 36125104 36125104 insertion of <=200bp - A frameshift_variant V40V? STAD-US 13 36125122 36125122 single base substitution C T synonymous_variant S2250S 6750C>T STAD-US 13 36125122 36125122 single base substitution C T synonymous_variant S2253S 6759C>T STAD-US 13 36125122 36125122 single base substitution C T synonymous_variant S46S 138C>T STAD-US 13 36125129 36125129 single base substitution C T missense_variant R2253W 6757C>T STAD-US 13 36125129 36125129 single base substitution C T missense_variant R2256W 6766C>T STAD-US 13 36125129 36125129 single base substitution C T missense_variant R49W 145C>T STAD-US 13 36141109 36141109 single base substitution A C missense_variant E123D 369A>C STAD-US 13 36141109 36141109 single base substitution A C missense_variant E2327D 6981A>C STAD-US 13 36141109 36141109 single base substitution A C missense_variant E2330D 6990A>C STAD-US 13 36167537 36167537 single base substitution G A 5_prime_UTR_variant STAD-US 13 36167537 36167537 single base substitution G A missense_variant V210I 628G>A STAD-US 13 36167537 36167537 single base substitution G A missense_variant V2414I 7240G>A STAD-US 13 36167537 36167537 single base substitution G A missense_variant V2417I 7249G>A STAD-US 13 36180562 36180562 single base substitution G A splice_acceptor_variant STAD-US 13 36202263 36202263 single base substitution G A missense_variant D2496N 7486G>A STAD-US 13 36202263 36202263 single base substitution G A missense_variant D2499N 7495G>A STAD-US 13 36202263 36202263 single base substitution G A missense_variant D292N 874G>A STAD-US 13 36202263 36202263 single base substitution G A missense_variant D56N 166G>A STAD-US 13 36202305 36202305 single base substitution C T missense_variant R2510C 7528C>T STAD-US 13 36202305 36202305 single base substitution C T missense_variant R2513C 7537C>T STAD-US 13 36202305 36202305 single base substitution C T missense_variant R306C 916C>T STAD-US 13 36202305 36202305 single base substitution C T missense_variant R70C 208C>T STAD-US 13 36223810 36223810 single base substitution C A missense_variant P154T 460C>A STAD-US 13 36223810 36223810 single base substitution C A missense_variant P2573T 7717C>A STAD-US 13 36223810 36223810 single base substitution C A missense_variant P2576T 7726C>A STAD-US 13 36223810 36223810 single base substitution C A missense_variant P369T 1105C>A STAD-US 13 36223918 36223918 single base substitution A G missense_variant I190V 568A>G STAD-US 13 36223918 36223918 single base substitution A G missense_variant I2609V 7825A>G STAD-US 13 36223918 36223918 single base substitution A G missense_variant I2612V 7834A>G STAD-US 13 36223918 36223918 single base substitution A G missense_variant I405V 1213A>G STAD-US 13 36229748 36229748 single base substitution G C missense_variant D2718H 8152G>C STAD-US 13 36229748 36229748 single base substitution G C missense_variant D2721H 8161G>C STAD-US 13 36229748 36229748 single base substitution G C missense_variant D299H 895G>C STAD-US 13 36229748 36229748 single base substitution G C missense_variant D514H 1540G>C STAD-US 13 36229862 36229862 single base substitution A G missense_variant I2756V 8266A>G STAD-US 13 36229862 36229862 single base substitution A G missense_variant I2759V 8275A>G STAD-US 13 36229862 36229862 single base substitution A G missense_variant I337V 1009A>G STAD-US 13 36229862 36229862 single base substitution A G missense_variant I552V 1654A>G STAD-US 13 36241608 36241608 single base substitution C T synonymous_variant S2830S 8490C>T STAD-US 13 36241608 36241608 single base substitution C T synonymous_variant S2833S 8499C>T STAD-US 13 36241608 36241608 single base substitution C T synonymous_variant S411S 1233C>T STAD-US 13 36241608 36241608 single base substitution C T synonymous_variant S626S 1878C>T STAD-US 13 36241608 36241608 single base substitution C T upstream_gene_variant STAD-US 13 36241642 36241642 single base substitution C T stop_gained R2842* 8524C>T STAD-US 13 36241642 36241642 single base substitution C T stop_gained R2845* 8533C>T STAD-US 13 36241642 36241642 single base substitution C T stop_gained R423* 1267C>T STAD-US 13 36241642 36241642 single base substitution C T stop_gained R638* 1912C>T STAD-US 13 36241642 36241642 single base substitution C T upstream_gene_variant STAD-US 13 36242525 36242525 single base substitution C T synonymous_variant D2870D 8610C>T STAD-US 13 36242525 36242525 single base substitution C T synonymous_variant D2873D 8619C>T STAD-US 13 36242525 36242525 single base substitution C T synonymous_variant D451D 1353C>T STAD-US 13 36242525 36242525 single base substitution C T synonymous_variant D666D 1998C>T STAD-US 13 36242525 36242525 single base substitution C T upstream_gene_variant STAD-US 13 36242529 36242529 single base substitution C A missense_variant Q2872K 8614C>A STAD-US 13 36242529 36242529 single base substitution C A missense_variant Q2875K 8623C>A STAD-US 13 36242529 36242529 single base substitution C A missense_variant Q453K 1357C>A STAD-US 13 36242529 36242529 single base substitution C A missense_variant Q668K 2002C>A STAD-US 13 36242529 36242529 single base substitution C A upstream_gene_variant STAD-US 13 36242611 36242611 single base substitution G A missense_variant G2899E 8696G>A STAD-US 13 36242611 36242611 single base substitution G A missense_variant G2902E 8705G>A STAD-US 13 36242611 36242611 single base substitution G A missense_variant G480E 1439G>A STAD-US 13 36242611 36242611 single base substitution G A missense_variant G695E 2084G>A STAD-US 13 36242611 36242611 single base substitution G A upstream_gene_variant STAD-US 13 36242655 36242655 single base substitution A C splice_region_variant STAD-US 13 36242655 36242655 single base substitution A C upstream_gene_variant THCA-US 13 36050055 36050055 single base substitution A T intron_variant THCA-US 13 36050055 36050055 single base substitution A T upstream_gene_variant UCEC-US 13 35517196 35517196 single base substitution T C missense_variant L80P 239T>C UCEC-US 13 35615082 35615082 single base substitution G T stop_gained E103* 307G>T UCEC-US 13 35619115 35619115 single base substitution C A synonymous_variant A186A 558C>A UCEC-US 13 35622789 35622789 single base substitution T G missense_variant I271M 813T>G UCEC-US 13 35632939 35632939 single base substitution T C missense_variant F393S 1178T>C UCEC-US 13 35644113 35644113 single base substitution T C exon_variant UCEC-US 13 35644113 35644113 single base substitution T C synonymous_variant D436D 1308T>C UCEC-US 13 35644866 35644866 single base substitution C T exon_variant UCEC-US 13 35644866 35644866 single base substitution C T missense_variant A483V 1448C>T UCEC-US 13 35644985 35644985 single base substitution G T exon_variant UCEC-US 13 35644985 35644985 single base substitution G T missense_variant V523F 1567G>T UCEC-US 13 35672509 35672509 single base substitution A G synonymous_variant K549K 1647A>G UCEC-US 13 35683434 35683434 single base substitution G T missense_variant R563I 1688G>T UCEC-US 13 35692368 35692368 single base substitution C T stop_gained R696* 2086C>T UCEC-US 13 35692379 35692379 single base substitution G A synonymous_variant K699K 2097G>A UCEC-US 13 35716412 35716412 single base substitution A G synonymous_variant K781K 2343A>G UCEC-US 13 35731269 35731269 single base substitution C G missense_variant I902M 2706C>G UCEC-US 13 35731303 35731303 single base substitution G A missense_variant E914K 2740G>A UCEC-US 13 35733260 35733260 single base substitution C T synonymous_variant I984I 2952C>T UCEC-US 13 35733340 35733340 single base substitution G T missense_variant S1011I 3032G>T UCEC-US 13 35733686 35733686 single base substitution T C synonymous_variant N1126N 3378T>C UCEC-US 13 35733742 35733742 single base substitution C A stop_gained S1145* 3434C>A UCEC-US 13 35733835 35733835 single base substitution T C missense_variant V1176A 3527T>C UCEC-US 13 35734112 35734112 single base substitution C T synonymous_variant D1268D 3804C>T UCEC-US 13 35736014 35736014 single base substitution G A missense_variant R1330H 3989G>A UCEC-US 13 35745408 35745408 single base substitution G T splice_acceptor_variant UCEC-US 13 35751132 35751132 single base substitution G T splice_acceptor_variant UCEC-US 13 35751179 35751179 single base substitution C T missense_variant P1531L 4592C>T UCEC-US 13 35751179 35751179 single base substitution C T missense_variant P1534L 4601C>T UCEC-US 13 35751185 35751185 single base substitution G T missense_variant R1533I 4598G>T UCEC-US 13 35751185 35751185 single base substitution G T missense_variant R1536I 4607G>T UCEC-US 13 35751217 35751217 single base substitution C T missense_variant R1544C 4630C>T UCEC-US 13 35751217 35751217 single base substitution C T missense_variant R1547C 4639C>T UCEC-US 13 35751218 35751218 single base substitution G A missense_variant R1544H 4631G>A UCEC-US 13 35751218 35751218 single base substitution G A missense_variant R1547H 4640G>A UCEC-US 13 35756573 35756573 single base substitution G A missense_variant R1577H 4730G>A UCEC-US 13 35756573 35756573 single base substitution G A missense_variant R1580H 4739G>A UCEC-US 13 35770201 35770201 single base substitution G A missense_variant E1707K 5119G>A UCEC-US 13 35770201 35770201 single base substitution G A missense_variant E1710K 5128G>A UCEC-US 13 35770406 35770406 single base substitution C A missense_variant A1775D 5324C>A UCEC-US 13 35770406 35770406 single base substitution C A missense_variant A1778D 5333C>A UCEC-US 13 35782974 35782974 single base substitution G T missense_variant S1832I 5495G>T UCEC-US 13 35782974 35782974 single base substitution G T missense_variant S1835I 5504G>T UCEC-US 13 35785283 35785283 single base substitution C T missense_variant A1869V 5606C>T UCEC-US 13 35785283 35785283 single base substitution C T missense_variant A1872V 5615C>T UCEC-US 13 35806683 35806683 single base substitution A C missense_variant E1898D 5694A>C UCEC-US 13 35806683 35806683 single base substitution A C missense_variant E1901D 5703A>C UCEC-US 13 35806712 35806712 single base substitution C A missense_variant S1908Y 5723C>A UCEC-US 13 35806712 35806712 single base substitution C A missense_variant S1911Y 5732C>A UCEC-US 13 35806714 35806714 single base substitution C T missense_variant R1909C 5725C>T UCEC-US 13 35806714 35806714 single base substitution C T missense_variant R1912C 5734C>T UCEC-US 13 35806738 35806738 single base substitution C A missense_variant Q1917K 5749C>A UCEC-US 13 35806738 35806738 single base substitution C A missense_variant Q1920K 5758C>A UCEC-US 13 35923297 35923297 single base substitution G A missense_variant E1983K 5947G>A UCEC-US 13 35923297 35923297 single base substitution G A missense_variant E1986K 5956G>A UCEC-US 13 35923326 35923326 single base substitution G T missense_variant E1992D 5976G>T UCEC-US 13 35923326 35923326 single base substitution G T missense_variant E1995D 5985G>T UCEC-US 13 35926411 35926411 single base substitution C A missense_variant L2041I 6121C>A UCEC-US 13 35926411 35926411 single base substitution C A missense_variant L2044I 6130C>A UCEC-US 13 36006456 36006456 single base substitution G A missense_variant R2074Q 6221G>A UCEC-US 13 36006456 36006456 single base substitution G A missense_variant R2077Q 6230G>A UCEC-US 13 36026257 36026257 single base substitution G T missense_variant K2108N 6324G>T UCEC-US 13 36026257 36026257 single base substitution G T missense_variant K2111N 6333G>T UCEC-US 13 36049217 36049217 single base substitution C T intron_variant UCEC-US 13 36049217 36049217 single base substitution C T upstream_gene_variant UCEC-US 13 36049310 36049310 single base substitution C T intron_variant UCEC-US 13 36049310 36049310 single base substitution C T upstream_gene_variant UCEC-US 13 36049333 36049333 single base substitution G A intron_variant UCEC-US 13 36049333 36049333 single base substitution G A upstream_gene_variant UCEC-US 13 36049381 36049381 single base substitution G A intron_variant UCEC-US 13 36049381 36049381 single base substitution G A upstream_gene_variant UCEC-US 13 36049406 36049406 single base substitution G A intron_variant UCEC-US 13 36049406 36049406 single base substitution G A upstream_gene_variant UCEC-US 13 36049451 36049451 single base substitution C T intron_variant UCEC-US 13 36049451 36049451 single base substitution C T upstream_gene_variant UCEC-US 13 36049739 36049739 single base substitution G T intron_variant UCEC-US 13 36049739 36049739 single base substitution G T upstream_gene_variant UCEC-US 13 36049807 36049807 single base substitution C T intron_variant UCEC-US 13 36049807 36049807 single base substitution C T upstream_gene_variant UCEC-US 13 36050039 36050039 single base substitution A G intron_variant UCEC-US 13 36050039 36050039 single base substitution A G upstream_gene_variant UCEC-US 13 36050212 36050212 single base substitution C T intron_variant UCEC-US 13 36050212 36050212 single base substitution C T upstream_gene_variant UCEC-US 13 36124617 36124617 single base substitution C T 5_prime_UTR_variant UCEC-US 13 36124617 36124617 single base substitution C T missense_variant L2194F 6580C>T UCEC-US 13 36124617 36124617 single base substitution C T missense_variant L2197F 6589C>T UCEC-US 13 36124665 36124665 single base substitution C T stop_gained R2210* 6628C>T UCEC-US 13 36124665 36124665 single base substitution C T stop_gained R2213* 6637C>T UCEC-US 13 36124665 36124665 single base substitution C T stop_gained R6* 16C>T UCEC-US 13 36124666 36124666 single base substitution G A missense_variant R2210Q 6629G>A UCEC-US 13 36124666 36124666 single base substitution G A missense_variant R2213Q 6638G>A UCEC-US 13 36124666 36124666 single base substitution G A missense_variant R6Q 17G>A UCEC-US 13 36124683 36124683 single base substitution C T missense_variant R12C 34C>T UCEC-US 13 36124683 36124683 single base substitution C T missense_variant R2216C 6646C>T UCEC-US 13 36124683 36124683 single base substitution C T missense_variant R2219C 6655C>T UCEC-US 13 36125067 36125067 single base substitution C A missense_variant T2232N 6695C>A UCEC-US 13 36125067 36125067 single base substitution C A missense_variant T2235N 6704C>A UCEC-US 13 36125067 36125067 single base substitution C A missense_variant T28N 83C>A UCEC-US 13 36125116 36125116 single base substitution C A synonymous_variant V2248V 6744C>A UCEC-US 13 36125116 36125116 single base substitution C A synonymous_variant V2251V 6753C>A UCEC-US 13 36125116 36125116 single base substitution C A synonymous_variant V44V 132C>A UCEC-US 13 36125136 36125136 single base substitution G T missense_variant G2255V 6764G>T UCEC-US 13 36125136 36125136 single base substitution G T missense_variant G2258V 6773G>T UCEC-US 13 36125136 36125136 single base substitution G T missense_variant G51V 152G>T UCEC-US 13 36129196 36129196 single base substitution A C missense_variant E2290D 6870A>C UCEC-US 13 36129196 36129196 single base substitution A C missense_variant E2293D 6879A>C UCEC-US 13 36129196 36129196 single base substitution A C missense_variant E86D 258A>C UCEC-US 13 36129231 36129231 single base substitution C A missense_variant T2302N 6905C>A UCEC-US 13 36129231 36129231 single base substitution C A missense_variant T2305N 6914C>A UCEC-US 13 36129231 36129231 single base substitution C A missense_variant T98N 293C>A UCEC-US 13 36167505 36167505 single base substitution A C 5_prime_UTR_variant UCEC-US 13 36167505 36167505 single base substitution A C missense_variant K199T 596A>C UCEC-US 13 36167505 36167505 single base substitution A C missense_variant K2403T 7208A>C UCEC-US 13 36167505 36167505 single base substitution A C missense_variant K2406T 7217A>C UCEC-US 13 36167508 36167508 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 13 36167508 36167508 single base substitution T G missense_variant F200C 599T>G UCEC-US 13 36167508 36167508 single base substitution T G missense_variant F2404C 7211T>G UCEC-US 13 36167508 36167508 single base substitution T G missense_variant F2407C 7220T>G UCEC-US 13 36167535 36167535 single base substitution C T 5_prime_UTR_variant UCEC-US 13 36167535 36167535 single base substitution C T missense_variant S209F 626C>T UCEC-US 13 36167535 36167535 single base substitution C T missense_variant S2413F 7238C>T UCEC-US 13 36167535 36167535 single base substitution C T missense_variant S2416F 7247C>T UCEC-US 13 36167547 36167547 single base substitution C A 5_prime_UTR_variant UCEC-US 13 36167547 36167547 single base substitution C A missense_variant S213Y 638C>A UCEC-US 13 36167547 36167547 single base substitution C A missense_variant S2417Y 7250C>A UCEC-US 13 36167547 36167547 single base substitution C A missense_variant S2420Y 7259C>A UCEC-US 13 36167570 36167570 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 13 36167570 36167570 single base substitution A G missense_variant T221A 661A>G UCEC-US 13 36167570 36167570 single base substitution A G missense_variant T2425A 7273A>G UCEC-US 13 36167570 36167570 single base substitution A G missense_variant T2428A 7282A>G UCEC-US 13 36180629 36180629 single base substitution G A missense_variant V12I 34G>A UCEC-US 13 36180629 36180629 single base substitution G A missense_variant V2452I 7354G>A UCEC-US 13 36180629 36180629 single base substitution G A missense_variant V2455I 7363G>A UCEC-US 13 36180629 36180629 single base substitution G A missense_variant V248I 742G>A UCEC-US 13 36202234 36202234 single base substitution T G missense_variant F2486C 7457T>G UCEC-US 13 36202234 36202234 single base substitution T G missense_variant F2489C 7466T>G UCEC-US 13 36202234 36202234 single base substitution T G missense_variant F282C 845T>G UCEC-US 13 36202234 36202234 single base substitution T G missense_variant F46C 137T>G UCEC-US 13 36202287 36202287 single base substitution C T stop_gained R2504* 7510C>T UCEC-US 13 36202287 36202287 single base substitution C T stop_gained R2507* 7519C>T UCEC-US 13 36202287 36202287 single base substitution C T stop_gained R300* 898C>T UCEC-US 13 36202287 36202287 single base substitution C T stop_gained R64* 190C>T UCEC-US 13 36202322 36202322 single base substitution T G missense_variant F2515L 7545T>G UCEC-US 13 36202322 36202322 single base substitution T G missense_variant F2518L 7554T>G UCEC-US 13 36202322 36202322 single base substitution T G missense_variant F311L 933T>G UCEC-US 13 36202322 36202322 single base substitution T G missense_variant F75L 225T>G UCEC-US 13 36220436 36220436 single base substitution C A missense_variant S131Y 392C>A UCEC-US 13 36220436 36220436 single base substitution C A missense_variant S2550Y 7649C>A UCEC-US 13 36220436 36220436 single base substitution C A missense_variant S2553Y 7658C>A UCEC-US 13 36220436 36220436 single base substitution C A missense_variant S346Y 1037C>A UCEC-US 13 36223874 36223874 single base substitution C A missense_variant S175Y 524C>A UCEC-US 13 36223874 36223874 single base substitution C A missense_variant S2594Y 7781C>A UCEC-US 13 36223874 36223874 single base substitution C A missense_variant S2597Y 7790C>A UCEC-US 13 36223874 36223874 single base substitution C A missense_variant S390Y 1169C>A UCEC-US 13 36223884 36223884 single base substitution C A synonymous_variant T178T 534C>A UCEC-US 13 36223884 36223884 single base substitution C A synonymous_variant T2597T 7791C>A UCEC-US 13 36223884 36223884 single base substitution C A synonymous_variant T2600T 7800C>A UCEC-US 13 36223884 36223884 single base substitution C A synonymous_variant T393T 1179C>A UCEC-US 13 36223895 36223895 single base substitution C T missense_variant A182V 545C>T UCEC-US 13 36223895 36223895 single base substitution C T missense_variant A2601V 7802C>T UCEC-US 13 36223895 36223895 single base substitution C T missense_variant A2604V 7811C>T UCEC-US 13 36223895 36223895 single base substitution C T missense_variant A397V 1190C>T UCEC-US 13 36229024 36229024 single base substitution A G missense_variant T247A 739A>G UCEC-US 13 36229024 36229024 single base substitution A G missense_variant T2666A 7996A>G UCEC-US 13 36229024 36229024 single base substitution A G missense_variant T2669A 8005A>G UCEC-US 13 36229024 36229024 single base substitution A G missense_variant T462A 1384A>G UCEC-US 13 36229790 36229790 single base substitution G T missense_variant G2732W 8194G>T UCEC-US 13 36229790 36229790 single base substitution G T missense_variant G2735W 8203G>T UCEC-US 13 36229790 36229790 single base substitution G T missense_variant G313W 937G>T UCEC-US 13 36229790 36229790 single base substitution G T missense_variant G528W 1582G>T UCEC-US 13 36229805 36229805 single base substitution G A missense_variant V2737M 8209G>A UCEC-US 13 36229805 36229805 single base substitution G A missense_variant V2740M 8218G>A UCEC-US 13 36229805 36229805 single base substitution G A missense_variant V318M 952G>A UCEC-US 13 36229805 36229805 single base substitution G A missense_variant V533M 1597G>A UCEC-US 13 36229811 36229811 single base substitution G A missense_variant G2739R 8215G>A UCEC-US 13 36229811 36229811 single base substitution G A missense_variant G2742R 8224G>A UCEC-US 13 36229811 36229811 single base substitution G A missense_variant G320R 958G>A UCEC-US 13 36229811 36229811 single base substitution G A missense_variant G535R 1603G>A UCEC-US 13 36229853 36229853 single base substitution C T missense_variant R2753W 8257C>T UCEC-US 13 36229853 36229853 single base substitution C T missense_variant R2756W 8266C>T UCEC-US 13 36229853 36229853 single base substitution C T missense_variant R334W 1000C>T UCEC-US 13 36229853 36229853 single base substitution C T missense_variant R549W 1645C>T UCEC-US 13 36239231 36239231 single base substitution C T missense_variant P2767L 8300C>T UCEC-US 13 36239231 36239231 single base substitution C T missense_variant P2770L 8309C>T UCEC-US 13 36239231 36239231 single base substitution C T missense_variant P348L 1043C>T UCEC-US 13 36239231 36239231 single base substitution C T missense_variant P563L 1688C>T UCEC-US 13 36241613 36241613 single base substitution G A missense_variant G2832D 8495G>A UCEC-US 13 36241613 36241613 single base substitution G A missense_variant G2835D 8504G>A UCEC-US 13 36241613 36241613 single base substitution G A missense_variant G413D 1238G>A UCEC-US 13 36241613 36241613 single base substitution G A missense_variant G628D 1883G>A UCEC-US 13 36241613 36241613 single base substitution G A upstream_gene_variant UCEC-US 13 36245087 36245087 single base substitution G T missense_variant D2931Y 8791G>T UCEC-US 13 36245087 36245087 single base substitution G T missense_variant D2934Y 8800G>T UCEC-US 13 36245087 36245087 single base substitution G T missense_variant D512Y 1534G>T UCEC-US 13 36245087 36245087 single base substitution G T missense_variant D727Y 2179G>T UCEC-US 13 36245087 36245087 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-580 COSM1258750 c.486A>C p.Q162H Substitution - Missense 13:35041124-35041124 + TCGA-CA-6717-01 COSM1366610 c.7840G>A p.A2614T Substitution - Missense 13:35649787-35649787 + CSCC-29-T COSM4561061 c.1419G>A p.K473K Substitution - coding silent 13:35668454-35668454 + 11M COSM3468577 c.1376G>A p.G459E Substitution - Missense 13:35668411-35668411 + TCGA-CM-6170-01 COSM1366569 c.961C>T p.Q321* Substitution - Nonsense 13:35050384-35050384 + KM12 COSM2072023 c.2390G>A p.R797K Substitution - Missense 13:35142322-35142322 + TCGA-AX-A0J0-01 COSM947049 c.6704C>A p.T2235N Substitution - Missense 13:35550930-35550930 + CHC1152T COSM4791226 c.6939T>A p.D2313E Substitution - Missense 13:35566921-35566921 + TCGA-EE-A29V-06 COSM3468576 c.8642G>A p.G2881E Substitution - Missense 13:35668411-35668411 + SNU-C4 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + TCGA-F4-6569-01 COSM1366571 c.1390G>A p.E464K Substitution - Missense 13:35070058-35070058 + HCC130T COSM3704603 c.7401T>C p.L2467L Substitution - coding silent 13:35606530-35606530 + TCGA-BR-8687-01 COSM4047246 c.6766C>T p.R2256W Substitution - Missense 13:35550992-35550992 + LUAD_E01419 COSM354830 c.1278G>T p.L426F Substitution - Missense 13:35069946-35069946 + TCGA-FS-A1YW-06 COSM3468534 c.4513C>T p.Q1505* Substitution - Nonsense 13:35173553-35173553 + TCGA-CL-5918-01 COSM1562275 c.7864C>T p.R2622* Substitution - Nonsense 13:35649811-35649811 + TCGA-39-5024-01 COSM696694 c.331A>G p.I111V Substitution - Missense 13:35040969-35040969 + BN13T COSM1607023 c.1624C>A p.Q542K Substitution - Missense 13:35098349-35098349 + BCM337T COSM4799185 c.7918G>T p.G2640* Substitution - Nonsense 13:35651822-35651822 + 2492720 COSM3885290 c.1262G>A p.R421Q Substitution - Missense 13:35667500-35667500 + TCGA-B5-A0K9-01 COSM1651272 c.34G>A p.V12I Substitution - Missense 13:35606492-35606492 + TCGA-AX-A05Z-01 COSM947046 c.6589C>T p.L2197F Substitution - Missense 13:35550480-35550480 + TCGA-39-5019-01 COSM696687 c.4928-2A>G p.? Unknown 13:35195862-35195862 + TCGA-FW-A3R5-06 COSM3468537 c.4715C>T p.S1572L Substitution - Missense 13:35182412-35182412 + 2521252 COSM3468521 c.3074G>A p.R1025Q Substitution - Missense 13:35159245-35159245 + 35M COSM5581802 c.4710C>T p.F1570F Substitution - coding silent 13:35182407-35182407 + TCGA-CA-6717-01 COSM5827386 c.1473C>A p.S491S Substitution - coding silent 13:35668508-35668508 + BCM695T COSM2072052 c.3670G>A p.D1224N Substitution - Missense 13:35159841-35159841 + YUDON COSM5376681 c.549G>A p.G183G Substitution - coding silent 13:35044969-35044969 + TCGA-AG-A002-01 COSM262303 c.3750A>C p.K1250N Substitution - Missense 13:35159921-35159921 + TCGA-EK-A2PL-01 COSM4838315 c.7706T>C p.L2569P Substitution - Missense 13:35646347-35646347 + TCGA-D1-A16X-01 COSM947032 c.6130C>A p.L2044I Substitution - Missense 13:35352274-35352274 + 587398 COSM1216696 c.2243+1G>T p.? Unknown 13:35118475-35118475 + 587342 COSM1216699 c.8641G>T p.G2881W Substitution - Missense 13:35668410-35668410 + CSCC-27-T COSM3468563 c.7780C>T p.P2594S Substitution - Missense 13:35649727-35649727 + TCGA-EE-A3AF-06 COSM3468526 c.3536G>A p.G1179D Substitution - Missense 13:35159707-35159707 + CSCC-55-T COSM4454473 c.4985A>T p.E1662V Substitution - Missense 13:35195921-35195921 + ESCC-D11 COSM5045282 c.4217C>T p.A1406V Substitution - Missense 13:35164493-35164493 + OSCC-GB_00420111 COSM3711053 c.3953G>A p.R1318H Substitution - Missense 13:35161841-35161841 + BN41 COSM1607028 c.6842A>G p.K2281R Substitution - Missense 13:35555022-35555022 + TCGA-AP-A0LM-01 COSM946999 c.1308T>C p.D436D Substitution - coding silent 13:35069976-35069976 + TCGA-EI-6882-01 COSM3417559 c.1192C>T p.P398S Substitution - Missense 13:35667430-35667430 + TCGA-AX-A0J1-01 COSM947013 c.3527T>C p.V1176A Substitution - Missense 13:35159698-35159698 + CSCC-60-T COSM4560197 c.1078G>A p.E360K Substitution - Missense 13:35665129-35665129 + T2269 COSM262305 c.5128G>A p.E1710K Substitution - Missense 13:35196064-35196064 + TCGA-A6-6140-01 COSM3753661 c.1341C>A p.L447L Substitution - coding silent 13:35668376-35668376 + TCGA-GN-A26A-06 COSM3468507 c.566G>A p.S189N Substitution - Missense 13:35044986-35044986 + CSCC-15-T COSM4455560 c.927A>C p.S309S Substitution - coding silent 13:35655643-35655643 + TCGA-EB-A4IS-01 COSM3468542 c.5121G>A p.L1707L Substitution - coding silent 13:35196057-35196057 + TCGA-EE-A29D-06 COSM3468533 c.4418G>A p.R1473K Substitution - Missense 13:35171447-35171447 + HCT8 COSM4633817 c.3354T>C p.I1118I Substitution - coding silent 13:35159525-35159525 + LUAD-CHTN-Z4716A COSM391399 c.7793_7794insA p.V2599fs*30 Insertion - Frameshift 13:35649740-35649741 + TCGA-D3-A5GO-06 COSM3468513 c.1510C>T p.P504S Substitution - Missense 13:35070791-35070791 + TCGA-B5-A11H-01 COSM947001 c.1567G>T p.V523F Substitution - Missense 13:35070848-35070848 + MO_1071 COSM5552911 c.4897G>A p.E1633K Substitution - Missense 13:35184041-35184041 + OSCC-GB_00410111 COSM3711027 c.6937G>A p.D2313N Substitution - Missense 13:35566919-35566919 + CSCC-54-T COSM4553054 c.579G>A p.K193K Substitution - coding silent 13:35044999-35044999 + 466 COSM4437188 c.5806G>C p.V1936L Substitution - Missense 13:35290418-35290418 + AOCS-086-3-2 COSM3982013 c.4663-1G>T p.? Unknown 13:35182359-35182359 + TCGA-18-3409-01 COSM696671 c.7056C>T p.P2352P Substitution - coding silent 13:35583918-35583918 + TCGA-MY-A5BD-01 COSM4855708 c.6329C>G p.S2110* Substitution - Nonsense 13:35452116-35452116 + TCGA-BH-A0HF-01 COSM3813743 c.6556G>A p.D2186N Substitution - Missense 13:35472507-35472507 + TCGA-CC-A7IH-01 COSM4923926 c.2517T>A p.I839I Substitution - coding silent 13:35155845-35155845 + HCT8 COSM2071968 c.132G>T p.E44D Substitution - Missense 13:34942952-34942952 + CRC-11T COSM5460505 c.3761A>C p.N1254T Substitution - Missense 13:35159932-35159932 + SNU-C2B COSM2072063 c.3968G>A p.G1323D Substitution - Missense 13:35161856-35161856 + 1517_PT COSM4047274 c.1267C>T p.R423* Substitution - Nonsense 13:35667505-35667505 + TCGA-F4-6856-01 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + PT55 COSM5942560 c.5367-8C>T p.? Unknown 13:35208692-35208692 + HCC31T COSM1607029 c.7316A>G p.Y2439C Substitution - Missense 13:35606445-35606445 + Patient_5 COSM5414670 c.329T>C p.L110P Substitution - Missense 13:35645909-35645909 + TCGA-HU-A4H6-01 COSM1366606 c.7249G>A p.V2417I Substitution - Missense 13:35593400-35593400 + CSCC-32-T COSM4558325 c.7624G>A p.E2542K Substitution - Missense 13:35646265-35646265 + TCGA-AC-A23H-01 COSM3813747 c.8034C>G p.I2678M Substitution - Missense 13:35654916-35654916 + 8058336 COSM3384820 c.6430G>T p.E2144* Substitution - Nonsense 13:35452217-35452217 + ESCC_8 COSM5623435 c.1288A>T p.N430Y Substitution - Missense 13:35667526-35667526 + TCGA-BS-A0UF-01 COSM947026 c.5703A>C p.E1901D Substitution - Missense 13:35232546-35232546 + ATL020 COSM5704689 c.8290C>T p.P2764S Substitution - Missense 13:35655740-35655740 + TCGA-ED-A66Y-01 COSM4926446 c.5727C>T p.F1909F Substitution - coding silent 13:35232570-35232570 + PT24_1 COSM5904401 c.61G>A p.D21N Substitution - Missense 13:35606519-35606519 + RK084_C01 COSM1629070 c.7644T>C p.F2548F Substitution - coding silent 13:35646285-35646285 + ATL060 COSM5704686 c.5704A>T p.I1902F Substitution - Missense 13:35232547-35232547 + T2269 COSM4705631 c.1052T>C p.V351A Substitution - Missense 13:35056089-35056089 + 2492709 COSM5717741 c.2518C>T p.Q840* Substitution - Nonsense 13:35155846-35155846 + TCGA-CA-6717-01 COSM1366611 c.7901-1G>T p.? Unknown 13:35651804-35651804 + T3174 COSM4705645 c.353C>A p.A118D Substitution - Missense 13:35646260-35646260 + CSCC-31-T COSM4509228 c.747C>T p.L249L Substitution - coding silent 13:35654895-35654895 + LUAD-FH5PJ COSM394422 c.1410G>T p.V470V Substitution - coding silent 13:35070078-35070078 + HCC101 COSM262305 c.5128G>A p.E1710K Substitution - Missense 13:35196064-35196064 + TCGA-BF-A3DL-01 COSM4904719 c.649T>G p.L217V Substitution - Missense 13:35045327-35045327 + HCC078T COSM5806248 c.7681C>A p.P2561T Substitution - Missense 13:35646322-35646322 + TCGA-06-0237 COSM2151042 c.7522G>A p.G2508R Substitution - Missense 13:35628153-35628153 + ccRCC-41 COSM1663002 c.5383G>T p.V1795L Substitution - Missense 13:35208716-35208716 + SNUH_G45_S1 COSM147664 c.8286C>T p.D2762D Substitution - coding silent 13:35655736-35655736 + TCGA-FP-A4BF-01 COSM2072268 c.1439G>A p.G480E Substitution - Missense 13:35668474-35668474 + TCGA-EE-A2GC-06 COSM3468503 c.169C>T p.P57S Substitution - Missense 13:34942989-34942989 + TCGA-G9-6378-01 COSM3782795 c.3234G>A p.P1078P Substitution - coding silent 13:35159405-35159405 + TCGA-AX-A0J1-01 COSM947066 c.7800C>A p.T2600T Substitution - coding silent 13:35649747-35649747 + TCGA-EE-A29E-06 COSM3468515 c.2337-1G>A p.? Unknown 13:35142268-35142268 + TCGA-BS-A0UF-01 COSM947051 c.6773G>T p.G2258V Substitution - Missense 13:35550999-35550999 + 2492722 COSM3885290 c.1262G>A p.R421Q Substitution - Missense 13:35667500-35667500 + HCC7 COSM3704607 c.603C>T p.L201L Substitution - coding silent 13:35649816-35649816 + TCGA-HU-A4GC-01 COSM4047274 c.1267C>T p.R423* Substitution - Nonsense 13:35667505-35667505 + TCGA-24-1564-01 COSM80211 c.1935C>T p.H645H Substitution - coding silent 13:35110911-35110911 + TCGA-BG-A0VZ-01 COSM1651271 c.545C>T p.A182V Substitution - Missense 13:35649758-35649758 + TCGA-D3-A3CB-06 COSM3468565 c.8086G>A p.G2696R Substitution - Missense 13:35654968-35654968 + KYSE30 COSM5049606 c.5186C>A p.A1729E Substitution - Missense 13:35196122-35196122 + CSCC-7-T COSM947028 c.5734C>T p.R1912C Substitution - Missense 13:35232577-35232577 + TCGA-EE-A29R-06 COSM3468545 c.6049G>A p.E2017K Substitution - Missense 13:35352193-35352193 + ESCC_35 COSM5628597 c.7903C>G p.L2635V Substitution - Missense 13:35651807-35651807 + TCGA-BR-8680-01 COSM298737 c.2231G>T p.R744I Substitution - Missense 13:35118462-35118462 + ESO-859 COSM1239548 c.3490A>T p.S1164C Substitution - Missense 13:35159661-35159661 + CSCC-11-T COSM4498865 c.529C>T p.L177F Substitution - Missense 13:35044949-35044949 + TCGA-EE-A3AA-06 COSM3468506 c.434G>A p.R145Q Substitution - Missense 13:35041072-35041072 + pfg181T COSM4752694 c.530T>G p.L177R Substitution - Missense 13:35044950-35044950 + ACINAR01 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + TCGA-A5-A0RA-01 COSM947069 c.8203G>T p.G2735W Substitution - Missense 13:35655653-35655653 + 2492722 COSM1366605 c.7235G>A p.R2412Q Substitution - Missense 13:35593386-35593386 + LP6005334-DNA_D01 COSM5951463 c.8135T>G p.L2712W Substitution - Missense 13:35655585-35655585 + TCGA-BP-4973-01 COSM469386 c.7702C>T p.H2568Y Substitution - Missense 13:35646343-35646343 + TCGA-CG-4305-01 COSM4047169 c.282G>A p.T94T Substitution - coding silent 13:34943102-34943102 + CSCC-40-T COSM4572539 c.7788T>A p.N2596K Substitution - Missense 13:35649735-35649735 + TCGA-CA-6717-01 COSM1366586 c.4612C>A p.L1538I Substitution - Missense 13:35177053-35177053 + TCGA-AP-A056-01 COSM947005 c.2097G>A p.K699K Substitution - coding silent 13:35118242-35118242 + TCGA-D5-6928-01 COSM1366593 c.6309G>A p.T2103T Substitution - coding silent 13:35452096-35452096 + C141 COSM4441436 c.64G>T p.V22F Substitution - Missense 13:35606522-35606522 + SNUH_G16_S1 COSM3999073 c.1020C>T p.D340D Substitution - coding silent 13:35655736-35655736 + 041T COSM1729056 c.4594A>T p.K1532* Substitution - Nonsense 13:35177035-35177035 + BN17 COSM3704606 c.497T>C p.I166T Substitution - Missense 13:35649710-35649710 + AOCS-064-3-3 COSM3982017 c.5301C>G p.Y1767* Substitution - Nonsense 13:35196237-35196237 + XHDG17 COSM4768703 c.3049G>T p.D1017Y Substitution - Missense 13:35159220-35159220 + PT21_2 COSM262306 c.6247C>T p.R2083C Substitution - Missense 13:35432336-35432336 + S02237 COSM5676446 c.2559A>T p.K853N Substitution - Missense 13:35156114-35156114 + TCGA-AA-3971-01 COSM297247 c.2107C>A p.L703I Substitution - Missense 13:35118252-35118252 + 587284 COSM1216695 c.6686T>C p.V2229A Substitution - Missense 13:35550577-35550577 + TCGA-AR-A0U0-01 COSM5832181 c.1329_1330delTG p.A444fs*4 Deletion - Frameshift 13:35069997-35069998 + CSCC-11-T COSM2072164 c.6701G>A p.R2234Q Substitution - Missense 13:35550592-35550592 + CSCC-57-T COSM4509983 c.8230C>T p.R2744* Substitution - Nonsense 13:35655680-35655680 + YUPLA COSM5376683 c.1392G>A p.E464E Substitution - coding silent 13:35070060-35070060 + RK139_C01 COSM3744135 c.1443G>C p.V481V Substitution - coding silent 13:35070724-35070724 + 587376 COSM1216702 c.911C>A p.S304* Substitution - Nonsense 13:35050334-35050334 + HN_62996 COSM124676 c.5053A>T p.I1685F Substitution - Missense 13:35195989-35195989 + CCK81 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + SNUH_G45_S1 COSM2072046 c.3498C>T p.H1166H Substitution - coding silent 13:35159669-35159669 + pfg167T COSM4752788 c.919T>A p.S307T Substitution - Missense 13:35655635-35655635 + TCGA-MU-A51Y-01 COSM4836522 c.4551G>A p.S1517S Substitution - coding silent 13:35173591-35173591 + HCC162T COSM3704608 c.8046T>C p.C2682C Substitution - coding silent 13:35654928-35654928 + BN17T COSM1607035 c.8385T>C p.V2795V Substitution - coding silent 13:35665170-35665170 + TCGA-EE-A3J8-06 COSM3468523 c.3382C>T p.P1128S Substitution - Missense 13:35159553-35159553 + C086 COSM5535209 c.7910G>A p.G2637E Substitution - Missense 13:35651814-35651814 + 11M COSM3468576 c.8642G>A p.G2881E Substitution - Missense 13:35668411-35668411 + T3152 COSM4705627 c.755C>A p.P252H Substitution - Missense 13:35048594-35048594 + TCGA-EE-A2ML-06 COSM3468518 c.2796G>A p.W932* Substitution - Nonsense 13:35157222-35157222 + TCGA-BW-A5NQ-01 COSM4911831 c.3782T>G p.I1261S Substitution - Missense 13:35159953-35159953 + TCGA-BS-A0TC-01 COSM276259 c.6655C>T p.R2219C Substitution - Missense 13:35550546-35550546 + 2492708 COSM5717741 c.2518C>T p.Q840* Substitution - Nonsense 13:35155846-35155846 + I2L-P23-Tumor-Organoid COSM5362159 c.7248C>T p.S2416S Substitution - coding silent 13:35593399-35593399 + TCGA-IZ-A6M8-01 COSM3987372 c.2789A>G p.Y930C Substitution - Missense 13:35157215-35157215 + STC243 COSM5052137 c.1576A>G p.T526A Substitution - Missense 13:35098301-35098301 + CSCC-11-T COSM4491053 c.3737C>T p.S1246F Substitution - Missense 13:35159908-35159908 + 587234 COSM1216700 c.607C>T p.R203* Substitution - Nonsense 13:35045027-35045027 + 9227_T COSM5039804 c.931G>A p.G311S Substitution - Missense 13:35050354-35050354 + TCGA-AR-A24Q-01 COSM1477209 c.8074A>T p.I2692F Substitution - Missense 13:35654956-35654956 + CSCC-35-T COSM4446647 c.5904-3T>A p.? Unknown 13:35349105-35349105 + T3446 COSM4705635 c.3207A>G p.V1069V Substitution - coding silent 13:35159378-35159378 + TCGA-EE-A2GU-06 COSM3468514 c.1858T>A p.L620M Substitution - Missense 13:35110834-35110834 + TCGA-EE-A2GC-06 COSM3468544 c.5900G>A p.G1967E Substitution - Missense 13:35309589-35309589 + TCGA-EE-A2GC-06 COSM3468529 c.3873T>C p.G1291G Substitution - coding silent 13:35161761-35161761 + Co74 COSM50726 c.7518G>T p.Q2506H Substitution - Missense 13:35628149-35628149 + 587342 COSM1216698 c.3925G>A p.G1309R Substitution - Missense 13:35161813-35161813 + Pat_08_A COSM2072164 c.6701G>A p.R2234Q Substitution - Missense 13:35550592-35550592 + TCGA-06-0237-01 COSM2151043 c.193G>A p.G65R Substitution - Missense 13:35628153-35628153 + CHC1566T COSM4788817 c.2363A>C p.H788P Substitution - Missense 13:35142295-35142295 + TCGA-RP-A695-06 COSM4896615 c.7445G>A p.R2482K Substitution - Missense 13:35606574-35606574 + TCGA-AM-5821-01 COSM3753658 c.3951A>G p.R1317R Substitution - coding silent 13:35161839-35161839 + PT48 COSM5933231 c.1886C>T p.T629I Substitution - Missense 13:35110862-35110862 + HT115 COSM2072117 c.5888T>C p.L1963P Substitution - Missense 13:35309577-35309577 + BN17 COSM1607035 c.8385T>C p.V2795V Substitution - coding silent 13:35665170-35665170 + LIM1899 COSM4639936 c.6439A>G p.N2147D Substitution - Missense 13:35452226-35452226 + TCGA-EI-6512-01 COSM3417556 c.8014G>A p.V2672I Substitution - Missense 13:35654896-35654896 + TCGA-CC-5261-01 COSM4933522 c.6460C>T p.L2154F Substitution - Missense 13:35472411-35472411 + TCGA-PJ-A5Z9-01 COSM3987376 c.5086G>T p.G1696C Substitution - Missense 13:35196022-35196022 + TCGA-B5-A11E-01 COSM947010 c.3032G>T p.S1011I Substitution - Missense 13:35159203-35159203 + I2L-P23-Tumor-Biopsy COSM5362159 c.7248C>T p.S2416S Substitution - coding silent 13:35593399-35593399 + Gp2D COSM4627188 c.59A>G p.N20S Substitution - Missense 13:35606517-35606517 + TCGA-22-4613-01 COSM696686 c.5017A>G p.T1673A Substitution - Missense 13:35195953-35195953 + TCGA-BP-4973-01 COSM1645721 c.436C>T p.H146Y Substitution - Missense 13:35646343-35646343 + CHC1207T COSM4800054 c.6854T>C p.M2285T Substitution - Missense 13:35555034-35555034 + 2492723 COSM1366605 c.7235G>A p.R2412Q Substitution - Missense 13:35593386-35593386 + I2L-P10-Tumor-Organoid COSM5362084 c.6452C>T p.P2151L Substitution - Missense 13:35472403-35472403 + TCGA-B5-A0K3-01 COSM947022 c.4739G>A p.R1580H Substitution - Missense 13:35182436-35182436 + TCGA-BS-A0UF-01 COSM947065 c.7790C>A p.S2597Y Substitution - Missense 13:35649737-35649737 + PT19_2 COSM5900268 c.7160C>T p.S2387F Substitution - Missense 13:35584022-35584022 + Pat_37_B COSM2072110 c.5698C>T p.R1900C Substitution - Missense 13:35232541-35232541 + 2461404 COSM3468506 c.434G>A p.R145Q Substitution - Missense 13:35041072-35041072 + LUAD-CHTN-MAD04-00674 COSM357833 c.7652C>T p.T2551M Substitution - Missense 13:35646293-35646293 + TCGA-34-5239-01 COSM696682 c.5950G>T p.E1984* Substitution - Nonsense 13:35349154-35349154 + ME018T COSM225339 c.4697C>T p.A1566V Substitution - Missense 13:35182394-35182394 + TCGA-AA-A00N-01 COSM276260 c.8455G>T p.G2819* Substitution - Nonsense 13:35667427-35667427 + CHC892T COSM4961055 c.2679G>A p.Q893Q Substitution - coding silent 13:35157105-35157105 + HCT15 COSM2072214 c.7815C>A p.N2605K Substitution - Missense 13:35649762-35649762 + TCGA-EI-6917-01 COSM262305 c.5128G>A p.E1710K Substitution - Missense 13:35196064-35196064 + TCGA-D3-A5GO-06 COSM3468575 c.1293G>A p.G431G Substitution - coding silent 13:35667531-35667531 + ESCC_35 COSM5628598 c.637C>G p.L213V Substitution - Missense 13:35651807-35651807 + 3206A7_017_T COSM5039753 c.5756G>A p.G1919E Substitution - Missense 13:35232599-35232599 + TCGA-EI-6882-01 COSM3417550 c.4716G>A p.S1572S Substitution - coding silent 13:35182413-35182413 + TCGA-06-0237-01 COSM2151042 c.7522G>A p.G2508R Substitution - Missense 13:35628153-35628153 + Au5 COSM5605905 c.8004C>T p.I2668I Substitution - coding silent 13:35654886-35654886 + S0035 COSM5882408 c.2807G>C p.R936T Substitution - Missense 13:35157233-35157233 + HCC49 COSM3704612 c.1346G>A p.S449N Substitution - Missense 13:35668381-35668381 + 1N62-VS-1T62 COSM4977857 c.4615C>T p.Q1539* Substitution - Nonsense 13:35177056-35177056 + CSCC-31-T COSM4498247 c.5164C>T p.P1722S Substitution - Missense 13:35196100-35196100 + TCGA-D3-A1QA-06 COSM3468535 c.4588C>T p.P1530S Substitution - Missense 13:35177029-35177029 + TCGA-AP-A0LM-01 COSM946994 c.239T>C p.L80P Substitution - Missense 13:34943059-34943059 + sysucc-826T COSM5468313 c.3940G>T p.E1314* Substitution - Nonsense 13:35161828-35161828 + pfg068T COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + TCGA-FW-A3R5-06 COSM3885287 c.7064C>T p.A2355V Substitution - Missense 13:35583926-35583926 + PT54 COSM3931820 c.1019G>A p.S340N Substitution - Missense 13:35056056-35056056 + I2L-P24Tb-Tumor-Organoid COSM5362180 c.1331G>A p.R444Q Substitution - Missense 13:35667569-35667569 + TCGA-13-0923-01 COSM68995 c.4138_4154del17 p.N1381fs*28 Deletion - Frameshift 13:35164414-35164430 + YURAY COSM5376699 c.974C>T p.T325I Substitution - Missense 13:35655690-35655690 + TCGA-B5-A11G-01 COSM947002 c.1647A>G p.K549K Substitution - coding silent 13:35098372-35098372 + TCGA-AX-A1C7-01 COSM947029 c.5758C>A p.Q1920K Substitution - Missense 13:35232601-35232601 + S0078 COSM5882410 c.3372G>C p.K1124N Substitution - Missense 13:35159543-35159543 + PT35 COSM1366571 c.1390G>A p.E464K Substitution - Missense 13:35070058-35070058 + STC246 COSM5052139 c.1969G>A p.A657T Substitution - Missense 13:35110945-35110945 + CHC2103T COSM4952626 c.6513C>T p.L2171L Substitution - coding silent 13:35472464-35472464 + 61 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + TCGA-CD-5801-01 COSM2072264 c.1353C>T p.D451D Substitution - coding silent 13:35668388-35668388 + YULETA COSM5376693 c.6430G>A p.E2144K Substitution - Missense 13:35452217-35452217 + 42T COSM3711053 c.3953G>A p.R1318H Substitution - Missense 13:35161841-35161841 + CSCC-27-T COSM4552677 c.5669G>A p.R1890K Substitution - Missense 13:35232512-35232512 + TCGA-D3-A51N-06 COSM2071984 c.850C>T p.R284C Substitution - Missense 13:35050273-35050273 + PCSI_0472_Pa_P_526 COSM5031619 c.2210T>C p.M737T Substitution - Missense 13:35118441-35118441 + PR-05-839 COSM245941 c.2686A>G p.M896V Substitution - Missense 13:35157112-35157112 + TCGA-BG-A187-01 COSM947015 c.3989G>A p.R1330H Substitution - Missense 13:35161877-35161877 + TCGA-E9-A295-01 COSM1477206 c.2400G>T p.L800F Substitution - Missense 13:35142332-35142332 + TCGA-BS-A0UJ-01 COSM947012 c.3434C>A p.S1145* Substitution - Nonsense 13:35159605-35159605 + RK193_C01 COSM3744144 c.908G>A p.C303Y Substitution - Missense 13:35655624-35655624 + tumor_4133263 COSM5947482 c.7024G>A p.D2342N Substitution - Missense 13:35567006-35567006 + CSCC-45-T COSM4557583 c.20G>A p.G7E Substitution - Missense 13:35606478-35606478 + TCGA-AZ-4315-01 COSM1366579 c.2802C>A p.G934G Substitution - coding silent 13:35157228-35157228 + I2L-P10-Tumor-Organoid COSM5362080 c.4244C>T p.T1415M Substitution - Missense 13:35171273-35171273 + CSCC-15-T COSM4455559 c.8193A>C p.S2731S Substitution - coding silent 13:35655643-35655643 + PD13768a COSM5801407 c.8026_8062del37 p.Q2677fs*24 Deletion - Frameshift 13:35654908-35654944 + TCGA-D3-A3CB-06 COSM3468566 c.820G>A p.G274R Substitution - Missense 13:35654968-35654968 + TCGA-AP-A051-01 COSM947070 c.8218G>A p.V2740M Substitution - Missense 13:35655668-35655668 + TCGA-A8-A07O-01 COSM432343 c.3153_3155delAGT p.V1052delV Deletion - In frame 13:35159324-35159326 + TCGA-BR-4188-01 COSM4047271 c.8499C>T p.S2833S Substitution - coding silent 13:35667471-35667471 + TCGA-CC-A3MB-01 COSM4933832 c.4883C>A p.A1628D Substitution - Missense 13:35184027-35184027 + TCGA-BH-A1FG-01 COSM1477208 c.5571G>C p.V1857V Substitution - coding silent 13:35211102-35211102 + AOCS-166-1-2 COSM3982015 c.5091T>G p.P1697P Substitution - coding silent 13:35196027-35196027 + TCGA-D1-A17Q-01 COSM283117 c.307G>T p.E103* Substitution - Nonsense 13:35040945-35040945 + HT29 COSM2072177 c.7032A>C p.S2344S Substitution - coding silent 13:35567014-35567014 + TCGA-IR-A3LK-01 COSM4816887 c.5078C>A p.T1693K Substitution - Missense 13:35196014-35196014 + TCGA-Q1-A73O-01 COSM4834111 c.1042C>G p.P348A Substitution - Missense 13:35665093-35665093 + TCGA-IN-8663-01 COSM4047175 c.1529A>T p.D510V Substitution - Missense 13:35070810-35070810 + OSCC-GB_00270111 COSM2072092 c.5127C>T p.S1709S Substitution - coding silent 13:35196063-35196063 + CSCC-7-T COSM4561166 c.8730G>A p.M2910I Substitution - Missense 13:35668499-35668499 + TCGA-EE-A2A2-06 COSM3468571 c.1043C>T p.P348L Substitution - Missense 13:35665094-35665094 + C086 COSM2072110 c.5698C>T p.R1900C Substitution - Missense 13:35232541-35232541 + HCC64T COSM1607034 c.8172T>C p.T2724T Substitution - coding silent 13:35655622-35655622 + TCGA-AX-A05Z-01 COSM947030 c.5956G>A p.E1986K Substitution - Missense 13:35349160-35349160 + 587348 COSM1216691 c.6891C>A p.F2297L Substitution - Missense 13:35555071-35555071 + 587332 COSM1216693 c.136A>G p.R46G Substitution - Missense 13:34942956-34942956 + TCGA-EE-A29E-06 COSM3468552 c.6772G>A p.G2258R Substitution - Missense 13:35550998-35550998 + SS6003312 COSM3664903 c.6446C>T p.A2149V Substitution - Missense 13:35452233-35452233 + LP6005334-DNA_D01 COSM5951464 c.869T>G p.L290W Substitution - Missense 13:35655585-35655585 + 2492726 COSM5724996 c.2339G>A p.R780K Substitution - Missense 13:35142271-35142271 + BCM337T COSM4799185 c.7918G>T p.G2640* Substitution - Nonsense 13:35651822-35651822 + LUAD-5V8LT COSM401417 c.7761G>T p.V2587V Substitution - coding silent 13:35649708-35649708 + PT35 COSM2072173 c.6907C>T p.L2303F Substitution - Missense 13:35555087-35555087 + TCGA-AZ-6598-01 COSM1366575 c.1983C>T p.G661G Substitution - coding silent 13:35110959-35110959 + TCGA-H4-A2HQ-01 COSM1300167 c.6036T>C p.A2012A Substitution - coding silent 13:35352180-35352180 + CSCC-31-T COSM4544280 c.3535G>A p.G1179S Substitution - Missense 13:35159706-35159706 + HCC2998 COSM2072035 c.3136A>C p.S1046R Substitution - Missense 13:35159307-35159307 + BCM695T COSM2072052 c.3670G>A p.D1224N Substitution - Missense 13:35159841-35159841 + HCT8 COSM2072071 c.4387T>C p.S1463P Substitution - Missense 13:35171416-35171416 + Gp5D COSM2072216 c.7821G>A p.L2607L Substitution - coding silent 13:35649768-35649768 + DLD1 COSM2071968 c.132G>T p.E44D Substitution - Missense 13:34942952-34942952 + TCGA-BR-4361-01 COSM4047192 c.3677C>T p.A1226V Substitution - Missense 13:35159848-35159848 + 410 COSM4430838 c.556G>T p.A186S Substitution - Missense 13:35044976-35044976 + TCGA-AA-3510-01 COSM298737 c.2231G>T p.R744I Substitution - Missense 13:35118462-35118462 + TCGA-D3-A3CF-06 COSM3468508 c.624C>G p.I208M Substitution - Missense 13:35045044-35045044 + TCGA-ER-A194-01 COSM3468502 c.158C>T p.S53L Substitution - Missense 13:34942978-34942978 + 587248 COSM1216700 c.607C>T p.R203* Substitution - Nonsense 13:35045027-35045027 + TCGA-AP-A0LM-01 COSM947027 c.5732C>A p.S1911Y Substitution - Missense 13:35232575-35232575 + TCGA-B5-A11E-01 COSM947072 c.8266C>T p.R2756W Substitution - Missense 13:35655716-35655716 + TCGA-06-0237 COSM2151043 c.193G>A p.G65R Substitution - Missense 13:35628153-35628153 + TCGA-BR-7707-01 COSM4047190 c.3543T>C p.S1181S Substitution - coding silent 13:35159714-35159714 + PT49 COSM5936019 c.893G>A p.W298* Substitution - Nonsense 13:35655609-35655609 + PT33 COSM3931820 c.1019G>A p.S340N Substitution - Missense 13:35056056-35056056 + TCGA-ES-A2HS-01 COSM4910640 c.6566T>C p.F2189S Substitution - Missense 13:35472517-35472517 + T18 COSM3688688 c.4504A>G p.S1502G Substitution - Missense 13:35173544-35173544 + TCGA-D8-A1Y2-01 COSM5832183 c.8670delG p.A2891fs*29 Deletion - Frameshift 13:35668439-35668439 + PT49 COSM416383 c.8159G>A p.W2720* Substitution - Nonsense 13:35655609-35655609 + TCGA-CG-5721-01 COSM4047210 c.5416A>G p.T1806A Substitution - Missense 13:35208749-35208749 + CSCC-7-T COSM4047256 c.7537C>T p.R2513C Substitution - Missense 13:35628168-35628168 + TCGA-22-1016-01 COSM696690 c.1623G>T p.M541I Substitution - Missense 13:35098348-35098348 + SM-4AX84 COSM4412680 c.1321A>C p.S441R Substitution - Missense 13:35069989-35069989 + TCGA-EB-A3Y6-01 COSM2072262 c.1325C>T p.S442L Substitution - Missense 13:35667563-35667563 + PT51 COSM5938338 c.8332G>A p.G2778S Substitution - Missense 13:35665117-35665117 + BD124T COSM3376535 c.3904C>T p.R1302* Substitution - Nonsense 13:35161792-35161792 + PD11358a COSM5786242 c.346A>T p.I116F Substitution - Missense 13:35645926-35645926 + 587222 COSM1216692 c.5707T>G p.F1903V Substitution - Missense 13:35232550-35232550 + TCGA-AX-A05Z-01 COSM947061 c.7466T>G p.F2489C Substitution - Missense 13:35628097-35628097 + CSCC-62-T COSM4502791 c.6226C>T p.R2076C Substitution - Missense 13:35432315-35432315 + TCGA-EE-A2A2-06 COSM3468541 c.4945C>T p.P1649S Substitution - Missense 13:35195881-35195881 + TCGA-D1-A16F-01 COSM947014 c.3804C>T p.D1268D Substitution - coding silent 13:35159975-35159975 + ESCC_143 COSM5644039 c.1647A>C p.K549N Substitution - Missense 13:35098372-35098372 + HN_62415 COSM121287 c.8526A>G p.E2842E Substitution - coding silent 13:35667498-35667498 + TCGA-AG-3592-01 COSM3417555 c.7045G>T p.A2349S Substitution - Missense 13:35583907-35583907 + 27T COSM2072092 c.5127C>T p.S1709S Substitution - coding silent 13:35196063-35196063 + QC2-34-T2 COSM4047274 c.1267C>T p.R423* Substitution - Nonsense 13:35667505-35667505 + PT52 COSM5376702 c.1234G>A p.E412K Substitution - Missense 13:35667472-35667472 + 587376 COSM1216705 c.5683G>T p.V1895F Substitution - Missense 13:35232526-35232526 + CSCC-20-T COSM4510033 c.984C>T p.L328L Substitution - coding silent 13:35655700-35655700 + Pat_59_A COSM5842443 c.112delG p.G39fs*7 Deletion - Frameshift 13:34942932-34942932 + PCSI_0083_Pa_P COSM3376536 c.7975A>G p.N2659D Substitution - Missense 13:35654857-35654857 + 3N04-VS-3T04 COSM4978665 c.3737C>G p.S1246C Substitution - Missense 13:35159908-35159908 + RK156_C01 COSM3700405 c.7846G>A p.V2616M Substitution - Missense 13:35649793-35649793 + TCGA-Q1-A73O-01 COSM4834110 c.8308C>G p.P2770A Substitution - Missense 13:35665093-35665093 + S02279 COSM5683577 c.7082G>C p.R2361P Substitution - Missense 13:35583944-35583944 + TCGA-BG-A0VZ-01 COSM947067 c.7811C>T p.A2604V Substitution - Missense 13:35649758-35649758 + TCGA-BT-A0YX-01 COSM416383 c.8159G>A p.W2720* Substitution - Nonsense 13:35655609-35655609 + TCGA-18-3409-01 COSM696673 c.7055C>T p.P2352L Substitution - Missense 13:35583917-35583917 + CSCC-57-T COSM4509984 c.964C>T p.R322* Substitution - Nonsense 13:35655680-35655680 + RK261_C01 COSM4778346 c.2237G>A p.G746E Substitution - Missense 13:35118468-35118468 + TCGA-AZ-4315-01 COSM1366568 c.838C>A p.L280I Substitution - Missense 13:35048677-35048677 + TCGA-G5-6233-01 COSM3417547 c.3445G>C p.D1149H Substitution - Missense 13:35159616-35159616 + HCC2998 COSM947019 c.4607G>T p.R1536I Substitution - Missense 13:35177048-35177048 + TCGA-CA-6717-01 COSM283117 c.307G>T p.E103* Substitution - Nonsense 13:35040945-35040945 + HCC073T COSM5821793 c.8230C>G p.R2744G Substitution - Missense 13:35655680-35655680 + TCGA-EE-A2MI-06 COSM3468525 c.3466G>A p.E1156K Substitution - Missense 13:35159637-35159637 + TCGA-BR-6565-01 COSM4047262 c.7834A>G p.I2612V Substitution - Missense 13:35649781-35649781 + BN19 COSM1607024 c.3861A>T p.Q1287H Substitution - Missense 13:35160032-35160032 + SM-4B295 COSM5032719 c.4622T>G p.V1541G Substitution - Missense 13:35177063-35177063 + TCGA-BR-8680-01 COSM4047251 c.7297-1G>A p.? Unknown 13:35606425-35606425 + 40M COSM4511421 c.8682C>T p.F2894F Substitution - coding silent 13:35668451-35668451 + ZZUFHECRKL-G033T COSM5437621 c.7935A>G p.Q2645Q Substitution - coding silent 13:35651839-35651839 + CSCC-41-T COSM4491639 c.3840C>T p.I1280I Substitution - coding silent 13:35160011-35160011 + 38T COSM3711052 c.213G>A p.R71R Substitution - coding silent 13:34943033-34943033 + TCGA-G4-6586-01 COSM1366595 c.6447A>T p.A2149A Substitution - coding silent 13:35452234-35452234 + TCGA-EA-A6QX-01 COSM4828749 c.2135C>T p.T712M Substitution - Missense 13:35118280-35118280 + sysucc-783T COSM5005542 c.3580G>A p.V1194I Substitution - Missense 13:35159751-35159751 + ESCC-D21 COSM5046115 c.428C>T p.S143F Substitution - Missense 13:35646335-35646335 + RK082_C01 COSM1629068 c.4879C>A p.L1627I Substitution - Missense 13:35184023-35184023 + TCGA-AA-A00N-01 COSM298737 c.2231G>T p.R744I Substitution - Missense 13:35118462-35118462 + BK0015 COSM4185906 c.308A>T p.E103V Substitution - Missense 13:35040946-35040946 + CSCC-55-T COSM4511422 c.1416C>T p.F472F Substitution - coding silent 13:35668451-35668451 + OSCC-GB_00210111 COSM3711055 c.154C>T p.H52Y Substitution - Missense 13:35628114-35628114 + 49M COSM5592049 c.6877G>A p.E2293K Substitution - Missense 13:35555057-35555057 + Pat_28_B COSM5842448 c.6563C>T p.A2188V Substitution - Missense 13:35472514-35472514 + TCGA-56-1622-01 COSM696689 c.2198A>C p.H733P Substitution - Missense 13:35118429-35118429 + TCGA-D1-A163-01 COSM947018 c.4601C>T p.P1534L Substitution - Missense 13:35177042-35177042 + TCGA-AP-A0LM-01 COSM947021 c.4640G>A p.R1547H Substitution - Missense 13:35177081-35177081 + D28 COSM5545378 c.5638G>A p.E1880K Substitution - Missense 13:35211169-35211169 + ME016T COSM225012 c.5170G>A p.E1724K Substitution - Missense 13:35196106-35196106 + CRC-02T COSM1258750 c.486A>C p.Q162H Substitution - Missense 13:35041124-35041124 + SM-4B295 COSM4413258 c.232T>C p.L78L Substitution - coding silent 13:35628192-35628192 + ESCC_BICR_061T COSM5430721 c.5107C>T p.L1703F Substitution - Missense 13:35196043-35196043 + TCGA-A8-A0A7-01 COSM432347 c.7520G>A p.R2507Q Substitution - Missense 13:35628151-35628151 + TCGA-EI-6512-01 COSM3417557 c.748G>A p.V250I Substitution - Missense 13:35654896-35654896 + CSCC-17-T COSM4480823 c.2458C>A p.Q820K Substitution - Missense 13:35155786-35155786 + sysucc-1370T COSM5470163 c.417G>A p.P139P Substitution - coding silent 13:35646324-35646324 + TCGA-EB-A41A-01 COSM3468512 c.1309G>A p.G437R Substitution - Missense 13:35069977-35069977 + CSCC-60-T COSM4560196 c.8344G>A p.E2782K Substitution - Missense 13:35665129-35665129 + 587226 COSM1216688 c.6656G>A p.R2219H Substitution - Missense 13:35550547-35550547 + ODG6 COSM5731406 c.7641C>G p.N2547K Substitution - Missense 13:35646282-35646282 + sysucc-1365T COSM5766575 c.4927G>T p.E1643* Substitution - Nonsense 13:35184071-35184071 + TCGA-AX-A0J0-01 COSM947056 c.7220T>G p.F2407C Substitution - Missense 13:35593371-35593371 + TCGA-EX-A3L1-01 COSM4848995 c.295G>T p.E99* Substitution - Nonsense 13:35645875-35645875 + TCGA-CD-5801-01 COSM2072263 c.8619C>T p.D2873D Substitution - coding silent 13:35668388-35668388 + TCGA-CG-4469-01 COSM4047214 c.5849A>C p.N1950T Substitution - Missense 13:35309538-35309538 + GC8_T COSM147664 c.8286C>T p.D2762D Substitution - coding silent 13:35655736-35655736 + TCGA-B5-A0K7-01 COSM947054 c.7210G>T p.D2404Y Substitution - Missense 13:35593361-35593361 + BN17 COSM1607032 c.7763T>C p.I2588T Substitution - Missense 13:35649710-35649710 + TCGA-FS-A1ZA-06 COSM3468561 c.7778T>C p.F2593S Substitution - Missense 13:35649725-35649725 + RW7213 COSM4649871 c.6248G>A p.R2083H Substitution - Missense 13:35432337-35432337 + 587376 COSM1216703 c.2278A>C p.S760R Substitution - Missense 13:35123516-35123516 + BZ28 COSM5758781 c.2377C>A p.L793I Substitution - Missense 13:35142309-35142309 + QC2-32-T2 COSM5654267 c.7501A>G p.I2501V Substitution - Missense 13:35628132-35628132 + S0033 COSM5882412 c.5248C>A p.L1750I Substitution - Missense 13:35196184-35196184 + PDA_090 COSM5003022 c.461C>T p.P154L Substitution - Missense 13:35649674-35649674 + 1517_PT COSM186274 c.8533C>T p.R2845* Substitution - Nonsense 13:35667505-35667505 + TCGA-EE-A181-06 COSM3468563 c.7780C>T p.P2594S Substitution - Missense 13:35649727-35649727 + sysucc-1370T COSM5470166 c.1261C>T p.R421* Substitution - Nonsense 13:35667499-35667499 + 19 COSM5747482 c.641T>C p.V214A Substitution - Missense 13:35045319-35045319 + TCGA-D8-A1Y2-01 COSM5832184 c.1404delG p.A469fs*29 Deletion - Frameshift 13:35668439-35668439 + SNU-175 COSM2072048 c.3582A>G p.V1194V Substitution - coding silent 13:35159753-35159753 + TCGA-D7-A4Z0-01 COSM4047204 c.4861A>G p.S1621G Substitution - Missense 13:35184005-35184005 + TCGA-B8-4143-01 COSM469383 c.6456G>T p.V2152V Substitution - coding silent 13:35472407-35472407 + YUKAT COSM5376702 c.1234G>A p.E412K Substitution - Missense 13:35667472-35667472 + 2492721 COSM3885289 c.8528G>A p.R2843Q Substitution - Missense 13:35667500-35667500 + TCGA-B5-A0K9-01 COSM947060 c.7363G>A p.V2455I Substitution - Missense 13:35606492-35606492 + 1_RESISTANT COSM1719617 c.8514C>T p.I2838I Substitution - coding silent 13:35667486-35667486 + TCGA-A6-6140-01 COSM3753660 c.8607C>A p.L2869L Substitution - coding silent 13:35668376-35668376 + TCGA-HF-7132-01 COSM4047171 c.291C>T p.N97N Substitution - coding silent 13:34943111-34943111 + C086 COSM5535214 c.3434C>T p.S1145L Substitution - Missense 13:35159605-35159605 + PCSI_0002_Pa_P COSM3786177 c.5605C>T p.Q1869* Substitution - Nonsense 13:35211136-35211136 + DLD1 COSM2072071 c.4387T>C p.S1463P Substitution - Missense 13:35171416-35171416 + TCGA-AG-A002-01 COSM262304 c.4874G>T p.G1625V Substitution - Missense 13:35184018-35184018 + SNUH_G45_S1 COSM3999073 c.1020C>T p.D340D Substitution - coding silent 13:35655736-35655736 + CSCC-16-T COSM4491644 c.3841C>T p.Q1281* Substitution - Nonsense 13:35160012-35160012 + TCGA-ER-A199-06 COSM3468559 c.7713C>T p.F2571F Substitution - coding silent 13:35649660-35649660 + BN19T COSM1607024 c.3861A>T p.Q1287H Substitution - Missense 13:35160032-35160032 + TCGA-AB-2871-03 COSM1317896 c.5718T>A p.F1906L Substitution - Missense 13:35232561-35232561 + 49M COSM5592051 c.1693C>T p.H565Y Substitution - Missense 13:35109302-35109302 + PT40 COSM5923998 c.1918G>A p.V640I Substitution - Missense 13:35110894-35110894 + TCGA-CM-5860-01 COSM1366613 c.8267G>A p.R2756Q Substitution - Missense 13:35655717-35655717 + PCSI_0083_Pa_X COSM3376536 c.7975A>G p.N2659D Substitution - Missense 13:35654857-35654857 + 2492721 COSM3885290 c.1262G>A p.R421Q Substitution - Missense 13:35667500-35667500 + sysucc-1370T COSM5470162 c.7683G>A p.P2561P Substitution - coding silent 13:35646324-35646324 + TCGA-CK-5916-01 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + T3446 COSM2072168 c.6741delA p.V2250fs*10 Deletion - Frameshift 13:35550967-35550967 + I2L-P24Tb-Tumor-Organoid COSM5362179 c.8597G>A p.R2866Q Substitution - Missense 13:35667569-35667569 + TCGA-BR-A4CS-01 COSM262306 c.6247C>T p.R2083C Substitution - Missense 13:35432336-35432336 + TCGA-D7-5577-01 COSM947048 c.6638G>A p.R2213Q Substitution - Missense 13:35550529-35550529 + ESCC_111 COSM5639302 c.3861+2T>A p.? Unknown 13:35160034-35160034 + TCGA-AA-3688-01 COSM268231 c.2929A>C p.K977Q Substitution - Missense 13:35159100-35159100 + EGC15 COSM5052143 c.955T>C p.S319P Substitution - Missense 13:35655671-35655671 + RK082_C01 COSM1629066 c.4602G>A p.P1534P Substitution - coding silent 13:35177043-35177043 + TCGA-13-0924-01 COSM75566 c.6656G>C p.R2219P Substitution - Missense 13:35550547-35550547 + TCGA-AA-A010-01 COSM283117 c.307G>T p.E103* Substitution - Nonsense 13:35040945-35040945 + TCGA-BK-A0C9-01 COSM947007 c.2706C>G p.I902M Substitution - Missense 13:35157132-35157132 + TCGA-AP-A056-01 COSM947063 c.7554T>G p.F2518L Substitution - Missense 13:35628185-35628185 + 1_RESISTANT COSM1719618 c.1248C>T p.I416I Substitution - coding silent 13:35667486-35667486 + TCGA-D7-6525-01 COSM4047277 c.8623C>A p.Q2875K Substitution - Missense 13:35668392-35668392 + CSCC-20-T COSM4563057 c.955G>A p.D319N Substitution - Missense 13:35050378-35050378 + pfg167T COSM4752787 c.8185T>A p.S2729T Substitution - Missense 13:35655635-35655635 + 1N62-VS-1T62 COSM4977859 c.6348T>A p.S2116R Substitution - Missense 13:35452135-35452135 + TCGA-WL-A834-01 COSM4830619 c.6114G>A p.Q2038Q Substitution - coding silent 13:35352258-35352258 + LUAD-CHTN-MAD04-00674 COSM357832 c.7592G>A p.S2531N Substitution - Missense 13:35628223-35628223 + DLD1 COSM2072070 c.4372G>T p.A1458S Substitution - Missense 13:35171401-35171401 + CSCC-40-T COSM4572540 c.522T>A p.N174K Substitution - Missense 13:35649735-35649735 + TCGA-EK-A2PG-01 COSM4819596 c.4012C>G p.P1338A Substitution - Missense 13:35161900-35161900 + TCGA-F4-6806-01 COSM1366572 c.1681-2A>C p.? Unknown 13:35109288-35109288 + CLL067 COSM1289893 c.233T>C p.I78T Substitution - Missense 13:34943053-34943053 + LUAD-2GUGK COSM400491 c.4438G>C p.V1480L Substitution - Missense 13:35173478-35173478 + TCGA-HU-A4GX-01 COSM4047173 c.1323T>C p.S441S Substitution - coding silent 13:35069991-35069991 + TCGA-EE-A2A2-06 COSM3468510 c.981G>A p.M327I Substitution - Missense 13:35056018-35056018 + TCGA-CA-6717-01 COSM2072218 c.574G>A p.A192T Substitution - Missense 13:35649787-35649787 + LP6007401-DNA_A01 COSM4047198 c.4142A>G p.N1381S Substitution - Missense 13:35164418-35164418 + CSCC-27-T COSM4553872 c.6048G>A p.E2016E Substitution - coding silent 13:35352192-35352192 + TCGA-EB-A3Y6-01 COSM2072261 c.8591C>T p.S2864L Substitution - Missense 13:35667563-35667563 + HCC153 COSM3704601 c.3265C>G p.L1089V Substitution - Missense 13:35159436-35159436 + TCGA-D7-6822-01 COSM4047196 c.3932C>G p.P1311R Substitution - Missense 13:35161820-35161820 + S01563 COSM4454473 c.4985A>T p.E1662V Substitution - Missense 13:35195921-35195921 + TCGA-EE-A29V-06 COSM2072166 c.6723C>T p.F2241F Substitution - coding silent 13:35550949-35550949 + BN23T COSM696685 c.5342C>A p.P1781H Substitution - Missense 13:35196278-35196278 + TCGA-CA-6717-01 COSM1366615 c.8739C>A p.S2913S Substitution - coding silent 13:35668508-35668508 + TCGA-D7-5578-01 COSM4047188 c.2985A>C p.K995N Substitution - Missense 13:35159156-35159156 + T3174 COSM4705644 c.7619C>A p.A2540D Substitution - Missense 13:35646260-35646260 + TCGA-EJ-7782-01 COSM3782797 c.5175G>A p.T1725T Substitution - coding silent 13:35196111-35196111 + ESCC-F25 COSM5047404 c.5869G>C p.G1957R Substitution - Missense 13:35309558-35309558 + CSCC-27-T COSM4572559 c.7870T>C p.F2624L Substitution - Missense 13:35649817-35649817 + LOVO COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + TCGA-D1-A103-01 COSM262305 c.5128G>A p.E1710K Substitution - Missense 13:35196064-35196064 + CHC1566T COSM4788817 c.2363A>C p.H788P Substitution - Missense 13:35142295-35142295 + TCGA-CM-6162-01 COSM1366581 c.3833G>A p.R1278Q Substitution - Missense 13:35160004-35160004 + TCGA-D1-A15X-01 COSM947071 c.8224G>A p.G2742R Substitution - Missense 13:35655674-35655674 + TCGA-A5-A0G9-01 COSM946995 c.250G>A p.G84R Substitution - Missense 13:34943070-34943070 + HCC49 COSM1607036 c.8612G>A p.S2871N Substitution - Missense 13:35668381-35668381 + T3091 COSM4705637 c.3832C>T p.R1278* Substitution - Nonsense 13:35160003-35160003 + CSCC-31-T COSM4509227 c.8013C>T p.L2671L Substitution - coding silent 13:35654895-35654895 + PD7243a COSM5799666 c.361A>G p.M121V Substitution - Missense 13:35040999-35040999 + PD12803a COSM3770070 c.3217G>A p.D1073N Substitution - Missense 13:35159388-35159388 + TCGA-HU-A4GC-01 COSM186274 c.8533C>T p.R2845* Substitution - Nonsense 13:35667505-35667505 + TCGA-B6-A0IK-01 COSM432342 c.2858C>T p.A953V Substitution - Missense 13:35159029-35159029 + SJRHB003 COSM2072079 c.4543G>A p.A1515T Substitution - Missense 13:35173583-35173583 + CSCC-31-T COSM4489446 c.3478C>T p.P1160S Substitution - Missense 13:35159649-35159649 + TCGA-D1-A16Y-01 COSM947004 c.2086C>T p.R696* Substitution - Nonsense 13:35118231-35118231 + pfg008T COSM947015 c.3989G>A p.R1330H Substitution - Missense 13:35161877-35161877 + CSCC-55-T COSM4560966 c.8643G>A p.G2881G Substitution - coding silent 13:35668412-35668412 + RK236_C01 COSM4945025 c.5222T>A p.I1741N Substitution - Missense 13:35196158-35196158 + PARBRK COSM5005542 c.3580G>A p.V1194I Substitution - Missense 13:35159751-35159751 + C086 COSM5499163 c.3711G>A p.M1237I Substitution - Missense 13:35159882-35159882 + TCGA-AP-A059-01 COSM947057 c.7247C>T p.S2416F Substitution - Missense 13:35593398-35593398 + TCGA-AP-A056-01 COSM947020 c.4639C>T p.R1547C Substitution - Missense 13:35177080-35177080 + TCGA-AX-A0J0-01 COSM947048 c.6638G>A p.R2213Q Substitution - Missense 13:35550529-35550529 + TCGA-CH-5745-01 COSM3782799 c.7144G>A p.A2382T Substitution - Missense 13:35584006-35584006 + HCC162 COSM3704608 c.8046T>C p.C2682C Substitution - coding silent 13:35654928-35654928 + TCGA-AC-A23H-01 COSM3813748 c.768C>G p.I256M Substitution - Missense 13:35654916-35654916 + OSCC-GB_00520111 COSM3711026 c.3514C>A p.Q1172K Substitution - Missense 13:35159685-35159685 + PT24_1 COSM5904400 c.7390G>A p.D2464N Substitution - Missense 13:35606519-35606519 + 1308T COSM5762672 c.4769C>T p.T1590I Substitution - Missense 13:35182466-35182466 + CN-AML-CR-5-Dx COSM5428418 c.2761C>T p.R921W Substitution - Missense 13:35157187-35157187 + CSCC-7-T COSM4047257 c.208C>T p.R70C Substitution - Missense 13:35628168-35628168 + 1_PRE-TREATMENT COSM1719616 c.6576C>T p.I2192I Substitution - coding silent 13:35472527-35472527 + PD13768a COSM5801408 c.760_796del37 p.Q255fs*24 Deletion - Frameshift 13:35654908-35654944 + TCGA-18-5595-01 COSM696675 c.6650C>G p.S2217* Substitution - Nonsense 13:35550541-35550541 + 587376 COSM1216706 c.7863C>A p.S2621R Substitution - Missense 13:35649810-35649810 + YUDIVI COSM3468556 c.7214G>A p.G2405E Substitution - Missense 13:35593365-35593365 + TCGA-HU-A4G8-01 COSM4047186 c.2929A>T p.K977* Substitution - Nonsense 13:35159100-35159100 + ODG6 COSM5731407 c.375C>G p.N125K Substitution - Missense 13:35646282-35646282 + T578 COSM4705633 c.1322G>T p.S441I Substitution - Missense 13:35069990-35069990 + ESCC-D2 COSM5045805 c.6031G>C p.A2011P Substitution - Missense 13:35352175-35352175 + TCGA-EB-A41B-01 COSM3468573 c.1157C>T p.T386I Substitution - Missense 13:35667395-35667395 + HCC130 COSM3704603 c.7401T>C p.L2467L Substitution - coding silent 13:35606530-35606530 + UM-SCC-17B COSM4598804 c.1639G>A p.G547S Substitution - Missense 13:35098364-35098364 + CHC892T COSM3885275 c.610G>A p.G204R Substitution - Missense 13:35045030-35045030 + BD236T COSM4917150 c.1057G>A p.V353I Substitution - Missense 13:35665108-35665108 + TCGA-BR-8680-01 COSM4047254 c.166G>A p.D56N Substitution - Missense 13:35628126-35628126 + TCGA-BR-4361-01 COSM4047208 c.5072T>C p.L1691S Substitution - Missense 13:35196008-35196008 + PCSI_0083_Pa_P COSM3376537 c.709A>G p.N237D Substitution - Missense 13:35654857-35654857 + YUOMEGA COSM3417548 c.3922C>T p.R1308* Substitution - Nonsense 13:35161810-35161810 + TCGA-AK-3451-01 COSM469381 c.4175A>G p.N1392S Substitution - Missense 13:35164451-35164451 + TCGA-CD-A4MG-01 COSM4047212 c.5496A>G p.T1832T Substitution - coding silent 13:35208829-35208829 + BD6T COSM2072264 c.1353C>T p.D451D Substitution - coding silent 13:35668388-35668388 + TCGA-EI-6513-01 COSM3417549 c.4656G>A p.R1552R Substitution - coding silent 13:35177097-35177097 + BD185T COSM5501125 c.6200G>A p.R2067H Substitution - Missense 13:35432289-35432289 + 587234 COSM1216701 c.723+2T>C p.? Unknown 13:35045403-35045403 + TCGA-AX-A0J0-01 COSM947017 c.4555-1G>T p.? Unknown 13:35176995-35176995 + PDA_046 COSM5000533 c.5657C>A p.A1886E Substitution - Missense 13:35232500-35232500 + ESO-K08 COSM1258753 c.7024G>T p.D2342Y Substitution - Missense 13:35567006-35567006 + TCGA-D8-A1XQ-01 COSM3813737 c.1226G>C p.G409A Substitution - Missense 13:35058850-35058850 + YUHAMA COSM5376685 c.1759G>A p.G587R Substitution - Missense 13:35109368-35109368 + TCGA-39-5031-01 COSM696688 c.3060C>T p.V1020V Substitution - coding silent 13:35159231-35159231 + CSCC-29-T COSM4506193 c.7131C>T p.T2377T Substitution - coding silent 13:35583993-35583993 + 151-02-8TD COSM5416194 c.6449-2A>C p.? Unknown 13:35472398-35472398 + RK207_C01 COSM3744137 c.3394T>C p.L1132L Substitution - coding silent 13:35159565-35159565 + OSCC-GB_01280111 COSM2072057 c.3875G>A p.R1292Q Substitution - Missense 13:35161763-35161763 + TCGA-AA-3492-01 COSM5827384 c.1372G>A p.G458R Substitution - Missense 13:35668407-35668407 + HCT8 COSM4633815 c.3094A>G p.K1032E Substitution - Missense 13:35159265-35159265 + RK075_C01 COSM1629065 c.2405C>G p.T802R Substitution - Missense 13:35142337-35142337 + CRC-06T COSM5456392 c.723G>A p.A241A Substitution - coding silent 13:35045401-35045401 + TCGA-CK-5916-01 COSM3688579 c.523G>T p.A175S Substitution - Missense 13:35041161-35041161 + LUAD-YINHD COSM348827 c.7011A>T p.P2337P Substitution - coding silent 13:35566993-35566993 + LP6005409-DNA_F01 COSM5036299 c.3678G>A p.A1226A Substitution - coding silent 13:35159849-35159849 + PD6409a COSM5788621 c.7486C>T p.Q2496* Substitution - Nonsense 13:35628117-35628117 + PD13420a COSM5790340 c.3496C>T p.H1166Y Substitution - Missense 13:35159667-35159667 + DLD1 COSM2072215 c.549C>A p.N183K Substitution - Missense 13:35649762-35649762 + TCGA-FW-A3R5-06 COSM3885277 c.1363C>T p.Q455* Substitution - Nonsense 13:35070031-35070031 + TCGA-ER-A199-06 COSM3468560 c.447C>T p.F149F Substitution - coding silent 13:35649660-35649660 + BCM337T COSM4799186 c.652G>T p.G218* Substitution - Nonsense 13:35651822-35651822 + CSCC-20-T COSM4510032 c.8250C>T p.L2750L Substitution - coding silent 13:35655700-35655700 + T2269 COSM4705642 c.6614G>A p.G2205E Substitution - Missense 13:35550505-35550505 + CSCC-31-T COSM4567771 c.8643_8644GG>AA p.D2882N Substitution - Missense 13:35668412-35668413 + TCGA-CA-6717-01 COSM1366582 c.4030C>A p.L1344I Substitution - Missense 13:35161918-35161918 + 35M COSM262305 c.5128G>A p.E1710K Substitution - Missense 13:35196064-35196064 + TCGA-FS-A1ZQ-06 COSM3468520 c.2995G>A p.E999K Substitution - Missense 13:35159166-35159166 + TCGA-AG-3892-01 COSM257497 c.4481G>A p.G1494E Substitution - Missense 13:35173521-35173521 + P04-1084 COSM245942 c.5816T>G p.L1939R Substitution - Missense 13:35290428-35290428 + TCGA-EE-A29V-06 COSM3468577 c.1376G>A p.G459E Substitution - Missense 13:35668411-35668411 + TCGA-GF-A6C9-06 COSM4903758 c.1445A>T p.K482I Substitution - Missense 13:35070726-35070726 + PT35 COSM5913516 c.3740C>T p.S1247F Substitution - Missense 13:35159911-35159911 + T1844 COSM2072251 c.8442G>A p.L2814L Substitution - coding silent 13:35667414-35667414 + PT48 COSM5933227 c.2143G>A p.E715K Substitution - Missense 13:35118288-35118288 + TCGA-CM-5864-01 COSM1366591 c.5776+1G>T p.? Unknown 13:35232620-35232620 + CSCC-62-T COSM4455080 c.6616A>T p.K2206* Substitution - Nonsense 13:35550507-35550507 + EGC15 COSM5052135 c.132G>A p.E44E Substitution - coding silent 13:34942952-34942952 + PCSI_0083_Pa_P_526 COSM3376536 c.7975A>G p.N2659D Substitution - Missense 13:35654857-35654857 + TCGA-HU-A4G6-01 COSM4047260 c.460C>A p.P154T Substitution - Missense 13:35649673-35649673 + CHC892T COSM4961055 c.2679G>A p.Q893Q Substitution - coding silent 13:35157105-35157105 + HCT15 COSM2072070 c.4372G>T p.A1458S Substitution - Missense 13:35171401-35171401 + TCGA-CG-4442-01 COSM4047182 c.2414T>C p.V805A Substitution - Missense 13:35142346-35142346 + 462 COSM4436755 c.4622T>A p.V1541D Substitution - Missense 13:35177063-35177063 + PT45 COSM4214250 c.1028G>A p.R343Q Substitution - Missense 13:35056065-35056065 + 11M COSM5576858 c.5844G>A p.W1948* Substitution - Nonsense 13:35309533-35309533 + TCGA-CA-6717-01 COSM5827382 c.635-1G>T p.? Unknown 13:35651804-35651804 + OSCC-GB_00380111 COSM3711052 c.213G>A p.R71R Substitution - coding silent 13:34943033-34943033 + ESCC-008T COSM3936304 c.2546C>T p.A849V Substitution - Missense 13:35156101-35156101 + 092T COSM1731359 c.548A>G p.N183S Substitution - Missense 13:35649761-35649761 + TCGA-EE-A2MS-06 COSM3468555 c.7210G>A p.D2404N Substitution - Missense 13:35593361-35593361 + TCGA-BS-A0TJ-01 COSM947053 c.6914C>A p.T2305N Substitution - Missense 13:35555094-35555094 + RK182_C01 COSM1629064 c.1077T>C p.H359H Substitution - coding silent 13:35056114-35056114 + 1N01-VS-1T01 COSM4972369 c.1294C>T p.Q432* Substitution - Nonsense 13:35069962-35069962 + TCGA-EE-A2GC-06 COSM3468527 c.3618A>G p.K1206K Substitution - coding silent 13:35159789-35159789 + CSCC-55-T COSM4533889 c.2026G>A p.E676K Substitution - Missense 13:35117437-35117437 + TCGA-IH-A3EA-01 COSM3468581 c.1472C>T p.S491F Substitution - Missense 13:35668507-35668507 + sysucc-1062T COSM5763352 c.5615C>A p.A1872D Substitution - Missense 13:35211146-35211146 + HT55 COSM2072220 c.682C>T p.P228S Substitution - Missense 13:35651852-35651852 + TCGA-CA-6718-01 COSM1366592 c.6048G>T p.E2016D Substitution - Missense 13:35352192-35352192 + TCGA-EB-A431-01 COSM696691 c.1480C>T p.H494Y Substitution - Missense 13:35070761-35070761 + TCGA-41-4097-01 COSM3399350 c.5875G>C p.A1959P Substitution - Missense 13:35309564-35309564 + TCGA-CG-5733-01 COSM3664903 c.6446C>T p.A2149V Substitution - Missense 13:35452233-35452233 + PT32 COSM5907637 c.6233G>A p.R2078K Substitution - Missense 13:35432322-35432322 + 587238 COSM1216689 c.4136T>C p.V1379A Substitution - Missense 13:35164412-35164412 + LUAD-RT-S01832 COSM384607 c.5881A>T p.I1961F Substitution - Missense 13:35309570-35309570 + T1844 COSM2072252 c.1176G>A p.L392L Substitution - coding silent 13:35667414-35667414 + TCGA-AX-A060-01 COSM947006 c.2343A>G p.K781K Substitution - coding silent 13:35142275-35142275 + YURAY COSM5376698 c.8240C>T p.T2747I Substitution - Missense 13:35655690-35655690 + 2461403 COSM3468506 c.434G>A p.R145Q Substitution - Missense 13:35041072-35041072 + CSCC-7-T COSM4561167 c.1464G>A p.M488I Substitution - Missense 13:35668499-35668499 + LP6005409-DNA_B04 COSM5436352 c.6057G>C p.K2019N Substitution - Missense 13:35352201-35352201 + HCT15 COSM4622814 c.96C>T p.S32S Substitution - coding silent 13:34942916-34942916 + LUAD-S01404 COSM398702 c.1353C>A p.A451A Substitution - coding silent 13:35070021-35070021 + TCGA-EE-A3AA-06 COSM3468556 c.7214G>A p.G2405E Substitution - Missense 13:35593365-35593365 + TCGA-BR-8680-01 COSM4047253 c.7495G>A p.D2499N Substitution - Missense 13:35628126-35628126 + BD6T COSM5499163 c.3711G>A p.M1237I Substitution - Missense 13:35159882-35159882 + D28 COSM5545376 c.151T>A p.S51T Substitution - Missense 13:34942971-34942971 + 587284 COSM1216694 c.6005A>G p.E2002G Substitution - Missense 13:35349209-35349209 + TCGA-EE-A29D-06 COSM3468532 c.4246G>A p.E1416K Substitution - Missense 13:35171275-35171275 + TCGA-EE-A29D-06 COSM3468539 c.4777G>A p.G1593R Substitution - Missense 13:35182474-35182474 + 41T COSM3711027 c.6937G>A p.D2313N Substitution - Missense 13:35566919-35566919 + CRC-02T COSM5454222 c.1842T>C p.L614L Substitution - coding silent 13:35110818-35110818 + BN41T COSM1607028 c.6842A>G p.K2281R Substitution - Missense 13:35555022-35555022 + TCGA-CG-5721-01 COSM4047198 c.4142A>G p.N1381S Substitution - Missense 13:35164418-35164418 + CHC1152T COSM4791226 c.6939T>A p.D2313E Substitution - Missense 13:35566921-35566921 + 21T COSM3711055 c.154C>T p.H52Y Substitution - Missense 13:35628114-35628114 + TCGA-FS-A1ZA-06 COSM3468562 c.512T>C p.F171S Substitution - Missense 13:35649725-35649725 + ESCC_165 COSM5648465 c.6654A>T p.R2218S Substitution - Missense 13:35550545-35550545 + CHC1720T COSM4800572 c.39G>T p.E13D Substitution - Missense 13:34942859-34942859 + TCGA-CD-A4MG-01 COSM4047202 c.4781G>T p.S1594I Substitution - Missense 13:35182478-35182478 + TCGA-46-3767-01 COSM696685 c.5342C>A p.P1781H Substitution - Missense 13:35196278-35196278 + TCGA-BH-A2L8-01 COSM3813741 c.4693C>T p.L1565L Substitution - coding silent 13:35182390-35182390 + TCGA-FR-A3YO-06 COSM3468510 c.981G>A p.M327I Substitution - Missense 13:35056018-35056018 + Pat_41_B COSM5842452 c.6974C>T p.T2325I Substitution - Missense 13:35566956-35566956 + TCGA-A8-A0A7-01 COSM5203005 c.191G>A p.R64Q Substitution - Missense 13:35628151-35628151 + TCGA-AO-A128-01 COSM3813751 c.1098C>T p.V366V Substitution - coding silent 13:35665149-35665149 + LS174T COSM2072124 c.6162G>A p.W2054* Substitution - Nonsense 13:35352306-35352306 + TCGA-EK-A2PI-01 COSM696681 c.6309G>T p.T2103T Substitution - coding silent 13:35452096-35452096 + PT48 COSM5933229 c.1996G>A p.G666R Substitution - Missense 13:35110972-35110972 + CHC1720T COSM4800572 c.39G>T p.E13D Substitution - Missense 13:34942859-34942859 + TCGA-B5-A11E-01 COSM947068 c.8005A>G p.T2669A Substitution - Missense 13:35654887-35654887 + HCC153T COSM3704601 c.3265C>G p.L1089V Substitution - Missense 13:35159436-35159436 + BN17 COSM3704611 c.1119T>C p.V373V Substitution - coding silent 13:35665170-35665170 + S00356 COSM5657470 c.4258A>G p.I1420V Substitution - Missense 13:35171287-35171287 + TCGA-FW-A3R5-06 COSM3885279 c.2158C>T p.H720Y Substitution - Missense 13:35118389-35118389 + TCGA-AG-A002-01 COSM262306 c.6247C>T p.R2083C Substitution - Missense 13:35432336-35432336 + HCC078T COSM5806249 c.415C>A p.P139T Substitution - Missense 13:35646322-35646322 + TCGA-06-0174-01 COSM3747946 c.2633A>C p.N878T Substitution - Missense 13:35156188-35156188 + CSCC-29-T COSM4561060 c.8685G>A p.K2895K Substitution - coding silent 13:35668454-35668454 + TCGA-61-2012-01 COSM80212 c.5205T>C p.I1735I Substitution - coding silent 13:35196141-35196141 + 587398 COSM1216697 c.6892G>A p.E2298K Substitution - Missense 13:35555072-35555072 + TCGA-D1-A103-01 COSM947075 c.8504G>A p.G2835D Substitution - Missense 13:35667476-35667476 + LUAD-RT-S01840 COSM384742 c.6470C>A p.P2157H Substitution - Missense 13:35472421-35472421 + QC2-34-T2 COSM186274 c.8533C>T p.R2845* Substitution - Nonsense 13:35667505-35667505 + TCGA-EE-A3AE-06 COSM3468504 c.301G>A p.G101S Substitution - Missense 13:35040939-35040939 + HCC31T COSM1607031 c.315delC p.H107fs*59 Deletion - Frameshift 13:35645895-35645895 + TCGA-AP-A0LM-01 COSM947008 c.2740G>A p.E914K Substitution - Missense 13:35157166-35157166 + TCGA-CG-5722-01 COSM4047226 c.6524C>T p.T2175M Substitution - Missense 13:35472475-35472475 + PT35 COSM5913514 c.5521G>A p.G1841S Substitution - Missense 13:35208854-35208854 + A3 COSM5349897 c.1299_1307delTTTGGCTCA p.L434_Q436delLAQ Deletion - In frame 13:35667537-35667545 + TCGA-RP-A695-06 COSM4896616 c.116G>A p.R39K Substitution - Missense 13:35606574-35606574 + PCSI_0083_Pa_P_526 COSM3376537 c.709A>G p.N237D Substitution - Missense 13:35654857-35654857 + 520 COSM5611531 c.7057_7058AA>CT p.K2353L Substitution - Missense 13:35583919-35583920 + CSCC-18-T COSM4476045 c.2036C>T p.S679L Substitution - Missense 13:35117447-35117447 + CSCC-31-T COSM4510751 c.1209C>T p.F403F Substitution - coding silent 13:35667447-35667447 + TCGA-B5-A11E-01 COSM947023 c.5333C>A p.A1778D Substitution - Missense 13:35196269-35196269 + HCC074T COSM5810313 c.6816A>T p.S2272S Substitution - coding silent 13:35554996-35554996 + TCGA-G3-A25Z-01 COSM947022 c.4739G>A p.R1580H Substitution - Missense 13:35182436-35182436 + GC_314T-GC_314N COSM4771798 c.7012G>A p.G2338R Substitution - Missense 13:35566994-35566994 + PD23578a COSM5777748 c.4998A>G p.V1666V Substitution - coding silent 13:35195934-35195934 + TCGA-BW-A5NQ-01 COSM4911843 c.2112G>C p.Q704H Substitution - Missense 13:35118257-35118257 + TCGA-CA-6717-01 COSM1366587 c.5137A>G p.K1713E Substitution - Missense 13:35196073-35196073 + TCGA-59-2363-01 COSM71785 c.749A>C p.K250T Substitution - Missense 13:35048588-35048588 + CSCC-38-T COSM3468530 c.4161C>T p.S1387S Substitution - coding silent 13:35164437-35164437 + TCGA-EE-A2GN-06 COSM3468530 c.4161C>T p.S1387S Substitution - coding silent 13:35164437-35164437 + PT35 COSM5913511 c.8569G>A p.A2857T Substitution - Missense 13:35667541-35667541 + TCGA-22-4591-01 COSM696684 c.5786G>T p.C1929F Substitution - Missense 13:35290398-35290398 + TCGA-FS-A1ZC-06 COSM3468543 c.5309C>T p.P1770L Substitution - Missense 13:35196245-35196245 + SS6003317 COSM3980198 c.2336A>C p.K779T Substitution - Missense 13:35123574-35123574 + TCGA-FS-A4F9-06 COSM3468511 c.1010G>A p.W337* Substitution - Nonsense 13:35056047-35056047 + 1_PRE-TREATMENT COSM1719617 c.8514C>T p.I2838I Substitution - coding silent 13:35667486-35667486 + CSCC-7-T COSM4510464 c.838C>T p.L280F Substitution - Missense 13:35048677-35048677 + TCGA-D9-A6EC-06 COSM4214409 c.6394G>A p.G2132R Substitution - Missense 13:35452181-35452181 + CSCC-27-T COSM4470850 c.1685C>T p.S562L Substitution - Missense 13:35109294-35109294 + TCGA-CU-A0YR-01 COSM416384 c.5932A>G p.I1978V Substitution - Missense 13:35349136-35349136 + TCGA-AO-A128-01 COSM3813750 c.8364C>T p.V2788V Substitution - coding silent 13:35665149-35665149 + PD9702a COSM5772628 c.170C>G p.P57R Substitution - Missense 13:34942990-34942990 + TCGA-B5-A0JY-01 COSM947052 c.6879A>C p.E2293D Substitution - Missense 13:35555059-35555059 + SNU-C4 COSM4652391 c.2990G>A p.G997E Substitution - Missense 13:35159161-35159161 + 2492723 COSM3885290 c.1262G>A p.R421Q Substitution - Missense 13:35667500-35667500 + TCGA-EE-A17X-06 COSM3468547 c.6263C>T p.S2088F Substitution - Missense 13:35432352-35432352 + CSCC-31-T COSM4499146 c.5357C>T p.S1786F Substitution - Missense 13:35196293-35196293 + LP6007535-DNA_A01 COSM5951161 c.851G>A p.R284H Substitution - Missense 13:35050274-35050274 + ESCC-F93 COSM5049137 c.3354_3355insA p.N1121fs*2 Insertion - Frameshift 13:35159525-35159526 + S0029 COSM947028 c.5734C>T p.R1912C Substitution - Missense 13:35232577-35232577 + TCGA-UB-A7MB-01 COSM4930967 c.2820T>C p.D940D Substitution - coding silent 13:35157246-35157246 + SS6003115 COSM3980200 c.7199T>G p.L2400R Substitution - Missense 13:35593350-35593350 + TCGA-A6-6141-01 COSM1366588 c.5176T>C p.L1726L Substitution - coding silent 13:35196112-35196112 + TCGA-ER-A19P-06 COSM3468517 c.2424C>G p.T808T Substitution - coding silent 13:35142356-35142356 + TCGA-EE-A2GR-06 COSM3468505 c.410G>A p.W137* Substitution - Nonsense 13:35041048-35041048 + LP6005334-DNA_G01 COSM5034926 c.4908T>G p.F1636L Substitution - Missense 13:35184052-35184052 + HCC77T COSM1607030 c.7432G>T p.V2478L Substitution - Missense 13:35606561-35606561 + 1_PRE-TREATMENT COSM1719618 c.1248C>T p.I416I Substitution - coding silent 13:35667486-35667486 + CSCC-27-T COSM3468564 c.514C>T p.P172S Substitution - Missense 13:35649727-35649727 + TCGA-EE-A3JD-06 COSM4396743 c.6379G>A p.E2127K Substitution - Missense 13:35452166-35452166 + CSCC-27-T COSM4572560 c.604T>C p.F202L Substitution - Missense 13:35649817-35649817 + PCSI_0083_Pa_X COSM3376537 c.709A>G p.N237D Substitution - Missense 13:35654857-35654857 + HCC122T COSM1607025 c.4546G>T p.A1516S Substitution - Missense 13:35173586-35173586 + TCGA-CD-A4MI-01 COSM4047177 c.1954T>C p.W652R Substitution - Missense 13:35110930-35110930 + HCC039T COSM5809364 c.6796C>A p.P2266T Substitution - Missense 13:35551022-35551022 + TCGA-46-6026-01 COSM696674 c.6988G>A p.E2330K Substitution - Missense 13:35566970-35566970 + BN13 COSM1607023 c.1624C>A p.Q542K Substitution - Missense 13:35098349-35098349 + TCGA-DA-A1I5-06 COSM3468583 c.1474C>T p.H492Y Substitution - Missense 13:35668509-35668509 + TCGA-GN-A269-01 COSM3468540 c.4879C>T p.L1627F Substitution - Missense 13:35184023-35184023 + PT52 COSM5376701 c.8500G>A p.E2834K Substitution - Missense 13:35667472-35667472 + B15-Tumor COSM3931820 c.1019G>A p.S340N Substitution - Missense 13:35056056-35056056 + TCGA-BR-6453-01 COSM4047248 c.6990A>C p.E2330D Substitution - Missense 13:35566972-35566972 + TCGA-BR-6565-01 COSM4047263 c.568A>G p.I190V Substitution - Missense 13:35649781-35649781 + TCGA-ER-A193-06 COSM3468519 c.2963C>T p.S988L Substitution - Missense 13:35159134-35159134 + TCGA-EB-A3XD-01 COSM3468570 c.993G>A p.W331* Substitution - Nonsense 13:35655709-35655709 + TCGA-24-0966-01 COSM75563 c.519G>A p.M173I Substitution - Missense 13:35041157-35041157 + T44 COSM5342322 c.6257T>C p.F2086S Substitution - Missense 13:35432346-35432346 + CoCM-1 COSM4611507 c.6740_6741insA p.V2250fs*4 Insertion - Frameshift 13:35550966-35550967 + TCGA-FW-A3TV-06 COSM3468521 c.3074G>A p.R1025Q Substitution - Missense 13:35159245-35159245 + HCC54 COSM1607022 c.84C>T p.G28G Substitution - coding silent 13:34942904-34942904 + CSCC-55-T COSM4560967 c.1377G>A p.G459G Substitution - coding silent 13:35668412-35668412 + HCC101T COSM262305 c.5128G>A p.E1710K Substitution - Missense 13:35196064-35196064 + TCGA-AA-3994-01 COSM273664 c.8330C>A p.T2777K Substitution - Missense 13:35665115-35665115 + TCGA-CA-6717-01 COSM1366605 c.7235G>A p.R2412Q Substitution - Missense 13:35593386-35593386 + HCT8 COSM2072167 c.6739G>A p.V2247I Substitution - Missense 13:35550965-35550965 + TCGA-EK-A2PL-01 COSM4838316 c.440T>C p.L147P Substitution - Missense 13:35646347-35646347 + SNUH_G45_S1 COSM3765692 c.4242+7G>A p.? Unknown 13:35171102-35171102 + CSCC-37-T COSM3417548 c.3922C>T p.R1308* Substitution - Nonsense 13:35161810-35161810 + SC_9103 COSM5551423 c.3049G>A p.D1017N Substitution - Missense 13:35159220-35159220 + LUAD-NYU1195 COSM369555 c.5275G>T p.E1759* Substitution - Nonsense 13:35196211-35196211 + TCGA-FP-A4BF-01 COSM2072267 c.8705G>A p.G2902E Substitution - Missense 13:35668474-35668474 + TCGA-AG-A00H-01 COSM265239 c.5225A>T p.N1742I Substitution - Missense 13:35196161-35196161 + TCGA-B5-A11N-01 COSM946997 c.813T>G p.I271M Substitution - Missense 13:35048652-35048652 + 2492720 COSM1366605 c.7235G>A p.R2412Q Substitution - Missense 13:35593386-35593386 + TCGA-EE-A2MC-06 COSM2072164 c.6701G>A p.R2234Q Substitution - Missense 13:35550592-35550592 + HCC130 COSM3704604 c.72T>C p.L24L Substitution - coding silent 13:35606530-35606530 + 22 COSM5748391 c.5174C>T p.T1725M Substitution - Missense 13:35196110-35196110 + YUKAE COSM5376689 c.5007A>G p.S1669S Substitution - coding silent 13:35195943-35195943 + 587376 COSM1216704 c.3001C>T p.R1001* Substitution - Nonsense 13:35159172-35159172 + TCGA-AA-A00N-01 COSM276258 c.2880A>C p.K960N Substitution - Missense 13:35159051-35159051 + CSCC-32-T COSM4558326 c.358G>A p.E120K Substitution - Missense 13:35646265-35646265 + TCGA-A6-6653-01 COSM1366578 c.2555_2556insA p.N854fs*18 Insertion - Frameshift 13:35156110-35156111 + CSCC-62-T COSM4493860 c.4223C>T p.T1408I Substitution - Missense 13:35164499-35164499 + ESO-043 COSM1258748 c.1694A>T p.H565L Substitution - Missense 13:35109303-35109303 + CHC892T COSM3417548 c.3922C>T p.R1308* Substitution - Nonsense 13:35161810-35161810 + TCGA-AA-3492-01 COSM1366614 c.8638G>A p.G2880R Substitution - Missense 13:35668407-35668407 + SC_9047 COSM4047192 c.3677C>T p.A1226V Substitution - Missense 13:35159848-35159848 + 40M COSM4511422 c.1416C>T p.F472F Substitution - coding silent 13:35668451-35668451 + TCGA-AX-A0J0-01 COSM947000 c.1448C>T p.A483V Substitution - Missense 13:35070729-35070729 + 2296357 COSM4766144 c.4807G>A p.E1603K Substitution - Missense 13:35182504-35182504 + TCGA-EB-A3XD-01 COSM3468569 c.8259G>A p.W2753* Substitution - Nonsense 13:35655709-35655709 + ESCC_118 COSM5640176 c.5321G>A p.R1774K Substitution - Missense 13:35196257-35196257 + LN229 COSM5712660 c.3491G>C p.S1164T Substitution - Missense 13:35159662-35159662 + CSCC-57-T COSM4508917 c.790C>T p.R264C Substitution - Missense 13:35048629-35048629 + PT52 COSM5940395 c.6746A>T p.K2249I Substitution - Missense 13:35550972-35550972 + TCGA-HU-A4GT-01 COSM4047184 c.2907G>T p.E969D Substitution - Missense 13:35159078-35159078 + TCGA-D3-A5GO-06 COSM3468574 c.8559G>A p.G2853G Substitution - coding silent 13:35667531-35667531 + 46M COSM5588413 c.6661C>T p.L2221F Substitution - Missense 13:35550552-35550552 + 466 COSM4437186 c.1675G>A p.E559K Substitution - Missense 13:35098400-35098400 + TCGA-ER-A3PL-06 COSM3468538 c.4722G>A p.L1574L Substitution - coding silent 13:35182419-35182419 + C141 COSM4441435 c.7393G>T p.V2465F Substitution - Missense 13:35606522-35606522 + TCGA-D5-6927-01 COSM5165043 c.802C>T p.R268C Substitution - Missense 13:35654950-35654950 + T2940 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + TCGA-EE-A29D-06 COSM3468578 c.8653G>A p.V2885I Substitution - Missense 13:35668422-35668422 + TCGA-AX-A05Z-01 COSM947064 c.7658C>A p.S2553Y Substitution - Missense 13:35646299-35646299 + TCGA-EE-A2GO-06 COSM2072170 c.6829C>T p.R2277* Substitution - Nonsense 13:35555009-35555009 + TCGA-C4-A0F1-01 COSM416385 c.664C>T p.Q222* Substitution - Nonsense 13:35045342-35045342 + TCGA-E2-A14Z-01 COSM432341 c.273C>T p.I91I Substitution - coding silent 13:34943093-34943093 + CHC1148T COSM4954635 c.495G>A p.L165L Substitution - coding silent 13:35041133-35041133 + TCGA-B1-A657-01 COSM4908163 c.4877T>G p.F1626C Substitution - Missense 13:35184021-35184021 + 2492720 COSM3885289 c.8528G>A p.R2843Q Substitution - Missense 13:35667500-35667500 + TCGA-BG-A0LX-01 COSM947059 c.7282A>G p.T2428A Substitution - Missense 13:35593433-35593433 + BN17T COSM1607032 c.7763T>C p.I2588T Substitution - Missense 13:35649710-35649710 + HCT8 COSM4633820 c.6806G>T p.R2269M Substitution - Missense 13:35551032-35551032 + CHC892T COSM4796932 c.4642G>A p.A1548T Substitution - Missense 13:35177083-35177083 + 74 COSM5012660 c.6832C>A p.Q2278K Substitution - Missense 13:35555012-35555012 + TCGA-AM-5821-01 COSM3688688 c.4504A>G p.S1502G Substitution - Missense 13:35173544-35173544 + PT51 COSM5938339 c.1066G>A p.G356S Substitution - Missense 13:35665117-35665117 + T3174 COSM4705640 c.5327_5328insA p.Q1777fs*12 Insertion - Frameshift 13:35196263-35196264 + RK197_C01 COSM3744139 c.5978G>T p.R1993I Substitution - Missense 13:35349182-35349182 + SJHGG056_A COSM4971068 c.2816delT p.V939fs*6 Deletion - Frameshift 13:35157242-35157242 + RKO COSM4647705 c.7765A>G p.M2589V Substitution - Missense 13:35649712-35649712 + TCGA-D5-6927-01 COSM1366612 c.8068C>T p.R2690C Substitution - Missense 13:35654950-35654950 + 1N52-VS-1T52 COSM4976762 c.1006C>G p.R336G Substitution - Missense 13:35056043-35056043 + Au5 COSM5605906 c.738C>T p.I246I Substitution - coding silent 13:35654886-35654886 + TCGA-26-5134-01 COSM3399349 c.1912G>C p.G638R Substitution - Missense 13:35110888-35110888 + TCGA-12-5301-01 COSM3399351 c.6624G>A p.M2208I Substitution - Missense 13:35550515-35550515 + PT49 COSM3468513 c.1510C>T p.P504S Substitution - Missense 13:35070791-35070791 + QC2-32-T2 COSM5654268 c.172A>G p.I58V Substitution - Missense 13:35628132-35628132 + TCGA-FW-A3R5-06 COSM3885275 c.610G>A p.G204R Substitution - Missense 13:35045030-35045030 + S02384 COSM696690 c.1623G>T p.M541I Substitution - Missense 13:35098348-35098348 + CSCC-15-T COSM4464843 c.1355C>A p.T452N Substitution - Missense 13:35070023-35070023 + 1_RESISTANT COSM1719616 c.6576C>T p.I2192I Substitution - coding silent 13:35472527-35472527 + TCGA-D7-6525-01 COSM4047278 c.1357C>A p.Q453K Substitution - Missense 13:35668392-35668392 + PT48 COSM5933225 c.1267G>A p.D423N Substitution - Missense 13:35069935-35069935 + TCGA-UB-A7MF-01 COSM4918857 c.7450-1G>T p.? Unknown 13:35628080-35628080 + 61 COSM5739934 c.4297A>T p.T1433S Substitution - Missense 13:35171326-35171326 + PT27 COSM947028 c.5734C>T p.R1912C Substitution - Missense 13:35232577-35232577 + TCGA-DC-5337-01 COSM1562276 c.3092_3093insA p.V1033fs*4 Insertion - Frameshift 13:35159263-35159264 + CHC1704T COSM4804174 c.6112C>G p.Q2038E Substitution - Missense 13:35352256-35352256 + TCGA-AR-A24Q-01 COSM5212196 c.808A>T p.I270F Substitution - Missense 13:35654956-35654956 + TCGA-AP-A0LM-01 COSM947062 c.7519C>T p.R2507* Substitution - Nonsense 13:35628150-35628150 + TCGA-AG-A002-01 COSM262305 c.5128G>A p.E1710K Substitution - Missense 13:35196064-35196064 + ESO-177 COSM1258749 c.6483C>T p.I2161I Substitution - coding silent 13:35472434-35472434 + Gp2D COSM4627184 c.4812A>G p.I1604M Substitution - Missense 13:35182509-35182509 + TCGA-BS-A0UV-01 COSM947076 c.8800G>T p.D2934Y Substitution - Missense 13:35670950-35670950 + 2497767 COSM5750045 c.2596C>A p.R866S Substitution - Missense 13:35156151-35156151 + TCGA-EE-A29D-06 COSM3468579 c.1387G>A p.V463I Substitution - Missense 13:35668422-35668422 + LUAD-RT-S01477 COSM377451 c.1730T>C p.F577S Substitution - Missense 13:35109339-35109339 + TCGA-BR-7958-01 COSM4047200 c.4768A>G p.T1590A Substitution - Missense 13:35182465-35182465 + HCC130T COSM3704604 c.72T>C p.L24L Substitution - coding silent 13:35606530-35606530 + CHC2200T COSM4953048 c.5747G>T p.G1916V Substitution - Missense 13:35232590-35232590 + ZZUFHECRKL-G033T COSM5437619 c.1158A>T p.Q386H Substitution - Missense 13:35058782-35058782 + 61 COSM5739936 c.4309C>T p.R1437W Substitution - Missense 13:35171338-35171338 + TCGA-HU-8602-01 COSM4047244 c.6759C>T p.S2253S Substitution - coding silent 13:35550985-35550985 + C086 COSM2072172 c.6891C>T p.F2297F Substitution - coding silent 13:35555071-35555071 + TCGA-G4-6628-01 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + TCGA-EE-A2GR-06 COSM3468540 c.4879C>T p.L1627F Substitution - Missense 13:35184023-35184023 + OSCC-GB_00210111 COSM3711054 c.7483C>T p.H2495Y Substitution - Missense 13:35628114-35628114 + TCGA-GF-A6C9-06 COSM4902796 c.1273C>T p.H425Y Substitution - Missense 13:35069941-35069941 + CRC-02T COSM5454224 c.5037G>T p.E1679D Substitution - Missense 13:35195973-35195973 + 70 COSM5744387 c.7018T>A p.F2340I Substitution - Missense 13:35567000-35567000 + Gp5D COSM2072217 c.555G>A p.L185L Substitution - coding silent 13:35649768-35649768 + TCGA-IH-A3EA-01 COSM2072164 c.6701G>A p.R2234Q Substitution - Missense 13:35550592-35550592 + EGC3 COSM2072163 c.6613G>A p.G2205R Substitution - Missense 13:35550504-35550504 + 12 COSM2072180 c.7082G>A p.R2361H Substitution - Missense 13:35583944-35583944 + 418 COSM1742426 c.7660C>T p.Q2554* Substitution - Nonsense 13:35646301-35646301 + 587322 COSM1216690 c.2087G>A p.R696Q Substitution - Missense 13:35118232-35118232 + TCGA-AA-A010-01 COSM283118 c.1573G>A p.A525T Substitution - Missense 13:35098298-35098298 + VACO10 COSM4656864 c.6630C>T p.S2210S Substitution - coding silent 13:35550521-35550521 + pfg160T COSM4752696 c.605T>G p.L202R Substitution - Missense 13:35045025-35045025 + TCGA-EE-A2MS-06 COSM3468537 c.4715C>T p.S1572L Substitution - Missense 13:35182412-35182412 + TCGA-EE-A17X-06 COSM1719616 c.6576C>T p.I2192I Substitution - coding silent 13:35472527-35472527 + TCGA-FP-8211-01 COSM4047266 c.895G>C p.D299H Substitution - Missense 13:35655611-35655611 + TCGA-66-2785-01 COSM696691 c.1480C>T p.H494Y Substitution - Missense 13:35070761-35070761 + CSCC-56-T COSM1366593 c.6309G>A p.T2103T Substitution - coding silent 13:35452096-35452096 + HT115 COSM2072164 c.6701G>A p.R2234Q Substitution - Missense 13:35550592-35550592 + CHC433T COSM3765692 c.4242+7G>A p.? Unknown 13:35171102-35171102 + 45T COSM3711025 c.1844C>G p.S615C Substitution - Missense 13:35110820-35110820 + HCT15 COSM2072071 c.4387T>C p.S1463P Substitution - Missense 13:35171416-35171416 + TCGA-ER-A193-06 COSM3468506 c.434G>A p.R145Q Substitution - Missense 13:35041072-35041072 + TCGA-FW-A3R5-06 COSM3885289 c.8528G>A p.R2843Q Substitution - Missense 13:35667500-35667500 + TCGA-FW-A3R5-06 COSM3885285 c.6824C>T p.T2275I Substitution - Missense 13:35555004-35555004 + TCGA-EP-A2KA-01 COSM4917149 c.8323G>A p.V2775I Substitution - Missense 13:35665108-35665108 + HX35T COSM3704600 c.942T>C p.H314H Substitution - coding silent 13:35050365-35050365 + RK082_C01 COSM1629067 c.4878C>A p.F1626L Substitution - Missense 13:35184022-35184022 + OSCC-GB_00450111 COSM3711025 c.1844C>G p.S615C Substitution - Missense 13:35110820-35110820 + TCGA-FP-8211-01 COSM4047265 c.8161G>C p.D2721H Substitution - Missense 13:35655611-35655611 + HCC122 COSM1607025 c.4546G>T p.A1516S Substitution - Missense 13:35173586-35173586 + TCGA-43-3394-01 COSM696681 c.6309G>T p.T2103T Substitution - coding silent 13:35452096-35452096 + 2461402 COSM3468506 c.434G>A p.R145Q Substitution - Missense 13:35041072-35041072 + TCGA-13-0807-01 COSM75565 c.3973C>T p.R1325W Substitution - Missense 13:35161861-35161861 + TCGA-CK-5914-01 COSM1366583 c.4389T>A p.S1463S Substitution - coding silent 13:35171418-35171418 + TCGA-G3-A25U-01 COSM4911101 c.2750A>G p.Y917C Substitution - Missense 13:35157176-35157176 + pfg057T COSM2072168 c.6741delA p.V2250fs*10 Deletion - Frameshift 13:35550967-35550967 + 587278 COSM947072 c.8266C>T p.R2756W Substitution - Missense 13:35655716-35655716 + RK047_C01 COSM1629063 c.817G>A p.V273I Substitution - Missense 13:35048656-35048656 + TCGA-CG-4436-01 COSM4047221 c.6267T>G p.T2089T Substitution - coding silent 13:35432356-35432356 + TCGA-EE-A181-06 COSM3468564 c.514C>T p.P172S Substitution - Missense 13:35649727-35649727 + HCC77 COSM3704605 c.103G>T p.V35L Substitution - Missense 13:35606561-35606561 + CHC2103T COSM4952626 c.6513C>T p.L2171L Substitution - coding silent 13:35472464-35472464 + LUAD-NYU1021 COSM368042 c.6525G>T p.T2175T Substitution - coding silent 13:35472476-35472476 + Gp2D COSM4627187 c.7388A>G p.N2463S Substitution - Missense 13:35606517-35606517 + HCC7T COSM1607033 c.7869C>T p.L2623L Substitution - coding silent 13:35649816-35649816 + RK308_C01 COSM3744133 c.723+9T>C p.? Unknown 13:35045410-35045410 + CSCC-31-T COSM4567772 c.1377_1378GG>AA p.D460N Substitution - Missense 13:35668412-35668413 + CHC892T COSM4796932 c.4642G>A p.A1548T Substitution - Missense 13:35177083-35177083 + TCGA-DD-A1EB-01 COSM4928700 c.1638G>T p.L546L Substitution - coding silent 13:35098363-35098363 + TCGA-G7-7501-01 COSM3987374 c.3432A>C p.T1144T Substitution - coding silent 13:35159603-35159603 + TCGA-FS-A4F8-06 COSM3468536 c.4663G>A p.D1555N Substitution - Missense 13:35182360-35182360 + CSCC-31-T COSM4552143 c.5508G>A p.M1836I Substitution - Missense 13:35208841-35208841 + TCGA-BR-8368-01 COSM4047257 c.208C>T p.R70C Substitution - Missense 13:35628168-35628168 + BD6T COSM2072263 c.8619C>T p.D2873D Substitution - coding silent 13:35668388-35668388 + TCGA-AN-A046-01 COSM3813739 c.3387G>T p.L1129F Substitution - Missense 13:35159558-35159558 + TCGA-BR-6452-01 COSM4047282 c.1483A>C p.R495R Substitution - coding silent 13:35668518-35668518 + CSCC-55-T COSM4511421 c.8682C>T p.F2894F Substitution - coding silent 13:35668451-35668451 + CSCC-16-T COSM4453883 c.3632A>C p.H1211P Substitution - Missense 13:35159803-35159803 + PT48 COSM5933233 c.7263G>A p.W2421* Substitution - Nonsense 13:35593414-35593414 + TCGA-AA-A010-01 COSM283119 c.3076G>T p.D1026Y Substitution - Missense 13:35159247-35159247 + TCGA-BR-4280-01 COSM4047223 c.6304+1G>C p.? Unknown 13:35432394-35432394 + RK262_C01 COSM4778710 c.3262G>T p.A1088S Substitution - Missense 13:35159433-35159433 + RK243_C01 COSM4779883 c.5012C>T p.P1671L Substitution - Missense 13:35195948-35195948 + BCM337T COSM4799186 c.652G>T p.G218* Substitution - Nonsense 13:35651822-35651822 + 66 COSM5743610 c.6013T>C p.S2005P Substitution - Missense 13:35352157-35352157 + pfg119T COSM4752767 c.7078G>A p.E2360K Substitution - Missense 13:35583940-35583940 + 61 COSM5739938 c.7003A>G p.T2335A Substitution - Missense 13:35566985-35566985 + ASHPC_0016_Pa_P COSM3786175 c.4009T>C p.S1337P Substitution - Missense 13:35161897-35161897 + TCGA-EP-A2KA-01 COSM4917150 c.1057G>A p.V353I Substitution - Missense 13:35665108-35665108 + TCGA-D1-A17Q-01 COSM947003 c.1688G>T p.R563I Substitution - Missense 13:35109297-35109297 + TCGA-B5-A0JY-01 COSM947024 c.5504G>T p.S1835I Substitution - Missense 13:35208837-35208837 + TCGA-G2-A2EK-01 COSM1300168 c.6308C>T p.T2103M Substitution - Missense 13:35452095-35452095 + CHC892T COSM3417548 c.3922C>T p.R1308* Substitution - Nonsense 13:35161810-35161810 + TCGA-AA-A017-01 COSM287129 c.5362G>A p.D1788N Substitution - Missense 13:35196298-35196298 + PD7188a COSM3769664 c.974G>A p.W325* Substitution - Nonsense 13:35056011-35056011 + SC_9093 COSM5561756 c.5297C>G p.P1766R Substitution - Missense 13:35196233-35196233 + HCC073T COSM5821794 c.964C>G p.R322G Substitution - Missense 13:35655680-35655680 + 2521243 COSM5886821 c.6403G>A p.D2135N Substitution - Missense 13:35452190-35452190 + TCGA-BR-6452-01 COSM4047281 c.8749A>C p.R2917R Substitution - coding silent 13:35668518-35668518 + MO_1130 COSM3711052 c.213G>A p.R71R Substitution - coding silent 13:34943033-34943033 + 2293776 COSM4607575 c.4404G>T p.M1468I Substitution - Missense 13:35171433-35171433 + PT46 COSM4491644 c.3841C>T p.Q1281* Substitution - Nonsense 13:35160012-35160012 + SNU-175 COSM2072092 c.5127C>T p.S1709S Substitution - coding silent 13:35196063-35196063 + TCGA-EK-A2RJ-01 COSM4832050 c.760C>T p.Q254* Substitution - Nonsense 13:35048599-35048599 + HCC2998 COSM2072030 c.2593C>T p.R865C Substitution - Missense 13:35156148-35156148 + J90_T COSM3955549 c.1303T>A p.Y435N Substitution - Missense 13:35069971-35069971 + YULAD COSM5376687 c.3791C>T p.T1264I Substitution - Missense 13:35159962-35159962 + ESCC_BICR_023T COSM5436352 c.6057G>C p.K2019N Substitution - Missense 13:35352201-35352201 + TCGA-AP-A056-01 COSM947047 c.6637C>T p.R2213* Substitution - Nonsense 13:35550528-35550528 + TCGA-CA-6717-01 COSM1366596 c.6541G>A p.E2181K Substitution - Missense 13:35472492-35472492 + 418 COSM1742427 c.394C>T p.Q132* Substitution - Nonsense 13:35646301-35646301 + RKO COSM4647706 c.499A>G p.M167V Substitution - Missense 13:35649712-35649712 + NPC16F COSM4995213 c.1321G>A p.D441N Substitution - Missense 13:35667559-35667559 + TCGA-EE-A29E-06 COSM3468553 c.7063G>A p.A2355T Substitution - Missense 13:35583925-35583925 + BK0020 COSM4186225 c.4045delT p.F1349fs*3 Deletion - Frameshift 13:35161933-35161933 + 3206A7_009_T COSM5039131 c.3055C>A p.P1019T Substitution - Missense 13:35159226-35159226 + CSCC-35-T COSM4527830 c.1493G>A p.G498E Substitution - Missense 13:35070774-35070774 + TCGA-BG-A18A-01 COSM946996 c.558C>A p.A186A Substitution - coding silent 13:35044978-35044978 + ESO-887 COSM1258751 c.2463A>T p.V821V Substitution - coding silent 13:35155791-35155791 + TCGA-BF-A1PV-01 COSM3468568 c.840C>T p.F280F Substitution - coding silent 13:35654988-35654988 + 2492723 COSM3885289 c.8528G>A p.R2843Q Substitution - Missense 13:35667500-35667500 + ESCC-D21 COSM5046114 c.7694C>T p.S2565F Substitution - Missense 13:35646335-35646335 + TCGA-FW-A3R5-06 COSM3885281 c.2373C>T p.F791F Substitution - coding silent 13:35142305-35142305 + TCGA-AX-A05Z-01 COSM947034 c.6333G>T p.K2111N Substitution - Missense 13:35452120-35452120 + TCGA-FP-8211-01 COSM4047218 c.6053A>G p.E2018G Substitution - Missense 13:35352197-35352197 + TCGA-AX-A0J0-01 COSM947033 c.6230G>A p.R2077Q Substitution - Missense 13:35432319-35432319 + Pat_08_B COSM2072164 c.6701G>A p.R2234Q Substitution - Missense 13:35550592-35550592 + sysucc-1370T COSM5470165 c.8527C>T p.R2843* Substitution - Nonsense 13:35667499-35667499 + TCGA-B0-4838-01 COSM3360075 c.4836G>T p.V1612V Substitution - coding silent 13:35183980-35183980 + CHC1148T COSM4954635 c.495G>A p.L165L Substitution - coding silent 13:35041133-35041133 + C086 COSM5535210 c.644G>A p.G215E Substitution - Missense 13:35651814-35651814 + KYSE150 COSM2072017 c.2211G>T p.M737I Substitution - Missense 13:35118442-35118442 + BN23 COSM696685 c.5342C>A p.P1781H Substitution - Missense 13:35196278-35196278 + 2492724 COSM5724996 c.2339G>A p.R780K Substitution - Missense 13:35142271-35142271 + TCGA-FW-A3R5-06 COSM3885290 c.1262G>A p.R421Q Substitution - Missense 13:35667500-35667500 + 2492721 COSM1366605 c.7235G>A p.R2412Q Substitution - Missense 13:35593386-35593386 + 8057711 COSM3384824 c.6811A>G p.I2271V Substitution - Missense 13:35554991-35554991 + AOCS-064-1-6 COSM3982017 c.5301C>G p.Y1767* Substitution - Nonsense 13:35196237-35196237 + NPC16F COSM4995212 c.8587G>A p.D2863N Substitution - Missense 13:35667559-35667559 + PDA_090 COSM5003021 c.7727C>T p.P2576L Substitution - Missense 13:35649674-35649674 + SC_9022 COSM5571367 c.1168G>T p.V390L Substitution - Missense 13:35058792-35058792 + PT37 COSM5920622 c.1438-1G>A p.? Unknown 13:35070718-35070718 + TCGA-AA-A00N-01 COSM276259 c.6655C>T p.R2219C Substitution - Missense 13:35550546-35550546 + ATL020 COSM5704690 c.1024C>T p.P342S Substitution - Missense 13:35655740-35655740 + 2521262 COSM5892221 c.5041C>A p.Q1681K Substitution - Missense 13:35195977-35195977 + TCGA-AA-3492-01 COSM1366603 c.7081C>T p.R2361C Substitution - Missense 13:35583943-35583943 + TCGA-EI-6917-01 COSM298737 c.2231G>T p.R744I Substitution - Missense 13:35118462-35118462 + A3 COSM5349896 c.8565_8573delTTTGGCTCA p.L2856_Q2858delLAQ Deletion - In frame 13:35667537-35667545 + TCGA-UB-A7MF-01 COSM4918858 c.121-1G>T p.? Unknown 13:35628080-35628080 + YUHAM COSM5376691 c.6391G>A p.E2131K Substitution - Missense 13:35452178-35452178 + TCGA-HU-A4G6-01 COSM4047259 c.7726C>A p.P2576T Substitution - Missense 13:35649673-35649673 + TCGA-B5-A11U-01 COSM947028 c.5734C>T p.R1912C Substitution - Missense 13:35232577-35232577 + TCGA-EE-A2MS-06 COSM2072163 c.6613G>A p.G2205R Substitution - Missense 13:35550504-35550504 + TCGA-A6-6780-01 COSM1366585 c.4591A>T p.I1531F Substitution - Missense 13:35177032-35177032 + TCGA-F5-6814-01 COSM3417548 c.3922C>T p.R1308* Substitution - Nonsense 13:35161810-35161810 + TCGA-GV-A3QK-01 COSM3793259 c.2740G>T p.E914* Substitution - Nonsense 13:35157166-35157166 + PT55 COSM5942558 c.2559A>C p.K853N Substitution - Missense 13:35156114-35156114 + TCGA-FR-A3YN-06 COSM3468546 c.6239G>A p.R2080Q Substitution - Missense 13:35432328-35432328 + 3N45-VS-3T45 COSM4982382 c.8702C>A p.P2901H Substitution - Missense 13:35668471-35668471 + B62-0-Tumor COSM3931822 c.1151G>A p.C384Y Substitution - Missense 13:35058775-35058775 + TCGA-EE-A3AG-06 COSM3468509 c.685C>T p.P229S Substitution - Missense 13:35045363-35045363 + HCC126T COSM5818803 c.1231G>A p.G411R Substitution - Missense 13:35058855-35058855 + TCGA-B5-A0JY-01 COSM947050 c.6753C>A p.V2251V Substitution - coding silent 13:35550979-35550979 + TCGA-BS-A0TC-01 COSM947074 c.8309C>T p.P2770L Substitution - Missense 13:35665094-35665094 + TCGA-CM-5348-01 COSM1366605 c.7235G>A p.R2412Q Substitution - Missense 13:35593386-35593386 + TCGA-BR-8368-01 COSM4047256 c.7537C>T p.R2513C Substitution - Missense 13:35628168-35628168 + PT41 COSM4902796 c.1273C>T p.H425Y Substitution - Missense 13:35069941-35069941 + TCGA-AX-A0J0-01 COSM947058 c.7259C>A p.S2420Y Substitution - Missense 13:35593410-35593410 + 46M COSM5588411 c.608G>A p.R203Q Substitution - Missense 13:35045028-35045028 + PT52 COSM5940397 c.4832-5C>T p.? Unknown 13:35183971-35183971 + TCGA-EI-6882-01 COSM3417558 c.8458C>T p.P2820S Substitution - Missense 13:35667430-35667430 + TCGA-B5-A11E-01 COSM947025 c.5615C>T p.A1872V Substitution - Missense 13:35211146-35211146 + LS411 COSM2072137 c.6578A>T p.D2193V Substitution - Missense 13:35472529-35472529 + TCGA-CG-4301-01 COSM4047206 c.4968A>C p.E1656D Substitution - Missense 13:35195904-35195904 + RK200_C01 COSM3744141 c.6185T>A p.L2062* Substitution - Nonsense 13:35432274-35432274 + 3N45-VS-3T45 COSM4982383 c.1436C>A p.P479H Substitution - Missense 13:35668471-35668471 + TCGA-D8-A1JL-01 COSM1477207 c.4959A>T p.K1653N Substitution - Missense 13:35195895-35195895 + DLD1 COSM2072214 c.7815C>A p.N2605K Substitution - Missense 13:35649762-35649762 + HCT116 COSM1366580 c.3355delA p.N1121fs*9 Deletion - Frameshift 13:35159526-35159526 + TCGA-AP-A056-01 COSM947009 c.2952C>T p.I984I Substitution - coding silent 13:35159123-35159123 + TCGA-BR-6852-01 COSM4047216 c.5918C>T p.A1973V Substitution - Missense 13:35349122-35349122 + PT52 COSM947028 c.5734C>T p.R1912C Substitution - Missense 13:35232577-35232577 + PCSI_0169_Pa_P_526 COSM5762143 c.4242+4A>G p.? Unknown 13:35171099-35171099 + TCGA-CM-6161-01 COSM1366590 c.5764C>T p.L1922L Substitution - coding silent 13:35232607-35232607 + LS180 COSM2072124 c.6162G>A p.W2054* Substitution - Nonsense 13:35352306-35352306 + TBR05 COSM4167637 c.1424C>A p.A475D Substitution - Missense 13:35070092-35070092 + TCGA-EE-A2A2-06 COSM947074 c.8309C>T p.P2770L Substitution - Missense 13:35665094-35665094 + TCGA-AY-4070-01 COSM287624 c.3411A>T p.E1137D Substitution - Missense 13:35159582-35159582 + TCGA-IH-A3EA-01 COSM3468580 c.8738C>T p.S2913F Substitution - Missense 13:35668507-35668507 + AOCS-093-1-9 COSM3982018 c.306C>T p.F102F Substitution - coding silent 13:35645886-35645886 + PT50 COSM5937609 c.3706G>A p.E1236K Substitution - Missense 13:35159877-35159877 + PT45 COSM5927703 c.875C>T p.S292F Substitution - Missense 13:35050298-35050298 + HCC64 COSM1607034 c.8172T>C p.T2724T Substitution - coding silent 13:35655622-35655622 + PT20_2 COSM5900788 c.4382A>T p.N1461I Substitution - Missense 13:35171411-35171411 + LUAD-F00282 COSM367110 c.5967G>C p.L1989F Substitution - Missense 13:35349171-35349171 + TCGA-D1-A17M-01 COSM947011 c.3378T>C p.N1126N Substitution - coding silent 13:35159549-35159549 + TCGA-HU-8602-01 COSM4047268 c.8275A>G p.I2759V Substitution - Missense 13:35655725-35655725 + TCGA-D1-A16Y-01 COSM283117 c.307G>T p.E103* Substitution - Nonsense 13:35040945-35040945 + C709 COSM4443851 c.4795A>G p.N1599D Substitution - Missense 13:35182492-35182492 + CSCC-7-T COSM4551232 c.5233G>A p.E1745K Substitution - Missense 13:35196169-35196169 + C086 COSM5535212 c.2569C>T p.P857S Substitution - Missense 13:35156124-35156124 + PT35 COSM5913512 c.1303G>A p.A435T Substitution - Missense 13:35667541-35667541 + TCGA-BR-4188-01 COSM4047272 c.1233C>T p.S411S Substitution - coding silent 13:35667471-35667471 + TCGA-60-2715-01 COSM696683 c.5826G>T p.L1942L Substitution - coding silent 13:35290438-35290438 + TCGA-AX-A0J0-01 COSM947019 c.4607G>T p.R1536I Substitution - Missense 13:35177048-35177048 + TCGA-EE-A183-06 COSM3468554 c.7099G>A p.D2367N Substitution - Missense 13:35583961-35583961 + S00825 COSM5659094 c.2230A>G p.R744G Substitution - Missense 13:35118461-35118461 + TCGA-BP-5200-01 COSM469382 c.5038G>C p.E1680Q Substitution - Missense 13:35195974-35195974 + Pat_34_A COSM3468537 c.4715C>T p.S1572L Substitution - Missense 13:35182412-35182412 + B73-Tumor COSM3931824 c.1162G>C p.G388R Substitution - Missense 13:35058786-35058786 + 587376 COSM283117 c.307G>T p.E103* Substitution - Nonsense 13:35040945-35040945 + 234 COSM3722711 c.2633A>G p.N878S Substitution - Missense 13:35156188-35156188 + 74 COSM5012662 c.6833A>G p.Q2278R Substitution - Missense 13:35555013-35555013 + TCGA-EE-A3AF-06 COSM3468558 c.410C>T p.P137L Substitution - Missense 13:35646317-35646317 + PCSI_0002_Pa_X COSM3786177 c.5605C>T p.Q1869* Substitution - Nonsense 13:35211136-35211136 + LS411 COSM2072102 c.5374G>A p.V1792M Substitution - Missense 13:35208707-35208707 + sysucc-311T COSM5478508 c.7046C>T p.A2349V Substitution - Missense 13:35583908-35583908 + TCGA-AA-A01V-01 COSM300323 c.5673G>A p.A1891A Substitution - coding silent 13:35232516-35232516 + TCGA-EE-A29E-06 COSM3468528 c.3641C>T p.S1214L Substitution - Missense 13:35159812-35159812 + TCGA-F5-6814-01 COSM3417546 c.3412G>T p.D1138Y Substitution - Missense 13:35159583-35159583 + WA48 COSM240826 c.7443C>A p.N2481K Substitution - Missense 13:35606572-35606572 + HCC31 COSM1607029 c.7316A>G p.Y2439C Substitution - Missense 13:35606445-35606445 + ORL-48 COSM4596488 c.3655A>G p.S1219G Substitution - Missense 13:35159826-35159826 + pfg180T COSM262306 c.6247C>T p.R2083C Substitution - Missense 13:35432336-35432336 + CSCC-44-T COSM4561332 c.1534G>A p.D512N Substitution - Missense 13:35670950-35670950 + RK156_C01 COSM3700406 c.580G>A p.V194M Substitution - Missense 13:35649793-35649793 + TCGA-EP-A2KB-01 COSM4921475 c.223G>T p.A75S Substitution - Missense 13:34943043-34943043 + 092T COSM1731358 c.7814A>G p.N2605S Substitution - Missense 13:35649761-35649761 + BD72T COSM5512980 c.3329A>G p.N1110S Substitution - Missense 13:35159500-35159500 + TCGA-AX-A0J1-01 COSM946998 c.1178T>C p.F393S Substitution - Missense 13:35058802-35058802 + BD236T COSM4917149 c.8323G>A p.V2775I Substitution - Missense 13:35665108-35665108 + TCGA-EI-6882-01 COSM3417545 c.722C>T p.A241V Substitution - Missense 13:35045400-35045400 + BZ33 COSM5759025 c.1013G>A p.R338K Substitution - Missense 13:35056050-35056050 + HT115 COSM2072072 c.4401A>G p.L1467L Substitution - coding silent 13:35171430-35171430 + T222 COSM4705629 c.1039A>G p.N347D Substitution - Missense 13:35056076-35056076 + TCGA-F5-6814-01 COSM3417551 c.5243A>C p.K1748T Substitution - Missense 13:35196179-35196179 + HT55 COSM2072219 c.7948C>T p.P2650S Substitution - Missense 13:35651852-35651852 + TCGA-AA-A010-01 COSM283120 c.4831+1G>A p.? Unknown 13:35182529-35182529 + TCGA-24-1466-01 COSM71784 c.445C>T p.R149W Substitution - Missense 13:35041083-35041083 + RK257_C01 COSM4779267 c.7035+2T>C p.? Unknown 13:35567019-35567019 + LUAD-S01315 COSM344248 c.2909A>T p.E970V Substitution - Missense 13:35159080-35159080 + TCGA-D9-A148-06 COSM3468522 c.3373G>A p.D1125N Substitution - Missense 13:35159544-35159544 + PCSI_0078_Pa_P_526 COSM3376535 c.3904C>T p.R1302* Substitution - Nonsense 13:35161792-35161792 + 2492710 COSM5717741 c.2518C>T p.Q840* Substitution - Nonsense 13:35155846-35155846 + PCSI_0080_Pa_P_526 COSM3786172 c.3015T>A p.D1005E Substitution - Missense 13:35159186-35159186 + HCT15 COSM2072215 c.549C>A p.N183K Substitution - Missense 13:35649762-35649762 + CRC-3 COSM304347 c.8114A>G p.Y2705C Substitution - Missense 13:35654996-35654996 + Mx38 COSM50727 c.7669A>T p.I2557F Substitution - Missense 13:35646310-35646310 + TCGA-RP-A695-06 COSM4896609 c.932G>A p.G311D Substitution - Missense 13:35050355-35050355 + TCGA-D1-A17Q-01 COSM947031 c.5985G>T p.E1995D Substitution - Missense 13:35349189-35349189 + TCGA-AP-A056-01 COSM947055 c.7217A>C p.K2406T Substitution - Missense 13:35593368-35593368 + PD6409a COSM5788622 c.157C>T p.Q53* Substitution - Nonsense 13:35628117-35628117 + TCGA-DA-A1I5-06 COSM3468582 c.8740C>T p.H2914Y Substitution - Missense 13:35668509-35668509 + CSCC-60-T COSM4555579 c.6601G>A p.E2201K Substitution - Missense 13:35550492-35550492 + ATL073 COSM5704684 c.3805G>A p.D1269N Substitution - Missense 13:35159976-35159976 + SM-4B295 COSM4413257 c.7561T>C p.L2521L Substitution - coding silent 13:35628192-35628192 + HCC49T COSM1607036 c.8612G>A p.S2871N Substitution - Missense 13:35668381-35668381 + 2984_T COSM3955551 c.3528A>G p.V1176V Substitution - coding silent 13:35159699-35159699 + TCGA-CL-5918-01 COSM5076518 c.598C>T p.R200* Substitution - Nonsense 13:35649811-35649811 + HCC7 COSM1607033 c.7869C>T p.L2623L Substitution - coding silent 13:35649816-35649816 + TCGA-D5-6922-01 COSM1366576 c.2462T>A p.V821E Substitution - Missense 13:35155790-35155790 + TCGA-QB-A6FS-06 COSM1216700 c.607C>T p.R203* Substitution - Nonsense 13:35045027-35045027 + HCT15 COSM2072167 c.6739G>A p.V2247I Substitution - Missense 13:35550965-35550965 + T3498 COSM4705625 c.198G>A p.P66P Substitution - coding silent 13:34943018-34943018 + ESCC_BICR_059T COSM1629068 c.4879C>A p.L1627I Substitution - Missense 13:35184023-35184023 + Pat_45_B COSM5842445 c.1195C>T p.P399S Substitution - Missense 13:35058819-35058819 + TCGA-BW-A5NQ-01 COSM4911877 c.2110C>T p.Q704* Substitution - Nonsense 13:35118255-35118255 + Pat_02_B COSM3468536 c.4663G>A p.D1555N Substitution - Missense 13:35182360-35182360 + TCGA-HU-8602-01 COSM4047269 c.1009A>G p.I337V Substitution - Missense 13:35655725-35655725 + HT115 COSM2072022 c.2370T>G p.L790L Substitution - coding silent 13:35142302-35142302 + 8067209 COSM3772803 c.8809C>T p.R2937W Substitution - Missense 13:35670959-35670959 + CHC2200T COSM4953048 c.5747G>T p.G1916V Substitution - Missense 13:35232590-35232590 + PCSI_0290_Pa_P_526 COSM4965059 c.2704A>G p.I902V Substitution - Missense 13:35157130-35157130 + OSCC-GB_00960111 COSM4885577 c.2286G>T p.W762C Substitution - Missense 13:35123524-35123524 + TCGA-AM-5821-01 COSM3753656 c.1534A>C p.R512R Substitution - coding silent 13:35070815-35070815 + TCGA-EK-A2RJ-01 COSM4831720 c.4654C>T p.R1552W Substitution - Missense 13:35177095-35177095 + EGC15 COSM5052142 c.8221T>C p.S2741P Substitution - Missense 13:35655671-35655671 + TCGA-AZ-4315-01 COSM1366604 c.7126A>C p.N2376H Substitution - Missense 13:35583988-35583988 + RKO COSM2071967 c.126delG p.E44fs*2 Deletion - Frameshift 13:34942946-34942946 + DLD1 COSM2072167 c.6739G>A p.V2247I Substitution - Missense 13:35550965-35550965 + PT26 COSM4214250 c.1028G>A p.R343Q Substitution - Missense 13:35056065-35056065 + LUAD-CHTN-Z4716A COSM361737 c.4332A>G p.V1444V Substitution - coding silent 13:35171361-35171361 + CSCC-44-T COSM4561331 c.8800G>A p.D2934N Substitution - Missense 13:35670950-35670950 + ZZUFHECRKL-G033T COSM5437622 c.669A>G p.Q223Q Substitution - coding silent 13:35651839-35651839 + C086 COSM5535216 c.7297G>A p.E2433K Substitution - Missense 13:35606426-35606426 + HCC54T COSM1607022 c.84C>T p.G28G Substitution - coding silent 13:34942904-34942904 + ESCC-F118 COSM5047025 c.1688G>C p.R563T Substitution - Missense 13:35109297-35109297 + HCC64 COSM3704610 c.906T>C p.T302T Substitution - coding silent 13:35655622-35655622 + HCC162 COSM3704609 c.780T>C p.C260C Substitution - coding silent 13:35654928-35654928 + HCC162T COSM3704609 c.780T>C p.C260C Substitution - coding silent 13:35654928-35654928 + 2492722 COSM3885289 c.8528G>A p.R2843Q Substitution - Missense 13:35667500-35667500 + CSCC-45-T COSM4557582 c.7349G>A p.G2450E Substitution - Missense 13:35606478-35606478 + 8033471 COSM3384819 c.6143C>A p.T2048K Substitution - Missense 13:35352287-35352287 + ESCC-098T COSM3936306 c.6581C>T p.T2194M Substitution - Missense 13:35472532-35472532 + YUKAT COSM5376701 c.8500G>A p.E2834K Substitution - Missense 13:35667472-35667472 + OSCC-GB_01070111 COSM4889309 c.1374G>T p.L458L Substitution - coding silent 13:35070042-35070042 + TCGA-AP-A0LM-01 COSM947016 c.4243-1G>T p.? Unknown 13:35171271-35171271 + CSCC-15-T COSM4545039 c.3692G>A p.G1231E Substitution - Missense 13:35159863-35159863 + ESO-963 COSM1258752 c.2707A>C p.N903H Substitution - Missense 13:35157133-35157133 + J46_T COSM3936304 c.2546C>T p.A849V Substitution - Missense 13:35156101-35156101 + TCGA-EE-A3AF-06 COSM3468557 c.7676C>T p.P2559L Substitution - Missense 13:35646317-35646317 + TCGA-HU-A4G8-01 COSM4047194 c.3769G>A p.A1257T Substitution - Missense 13:35159940-35159940 + CHC1207T COSM4800054 c.6854T>C p.M2285T Substitution - Missense 13:35555034-35555034 + CSCC-11-T COSM2072111 c.5701G>A p.E1901K Substitution - Missense 13:35232544-35232544 + SNUH_G16_S1 COSM147664 c.8286C>T p.D2762D Substitution - coding silent 13:35655736-35655736 + ESCC_BICR_053T COSM5442082 c.3974G>A p.R1325Q Substitution - Missense 13:35161862-35161862 + S01366 COSM5667992 c.2279G>A p.S760N Substitution - Missense 13:35123517-35123517 + TCGA-EE-A3AA-06 COSM3468516 c.2398T>C p.L800L Substitution - coding silent 13:35142330-35142330 + 2492725 COSM5724996 c.2339G>A p.R780K Substitution - Missense 13:35142271-35142271 + 52T COSM3711026 c.3514C>A p.Q1172K Substitution - Missense 13:35159685-35159685 + PDA_087 COSM2072004 c.1574C>A p.A525D Substitution - Missense 13:35098299-35098299 + ESCC-212T COSM3936302 c.2346T>C p.V782V Substitution - coding silent 13:35142278-35142278 + S01023 COSM5666429 c.4187C>T p.A1396V Substitution - Missense 13:35164463-35164463 + TCGA-B5-A11N-01 COSM947009 c.2952C>T p.I984I Substitution - coding silent 13:35159123-35159123 + TCGA-D3-A2JF-06 COSM3468524 c.3422A>G p.N1141S Substitution - Missense 13:35159593-35159593 + 8067209 COSM3772804 c.1543C>T p.R515W Substitution - Missense 13:35670959-35670959 + 2530678 COSM5885545 c.3106G>A p.D1036N Substitution - Missense 13:35159277-35159277 + 21T COSM3711054 c.7483C>T p.H2495Y Substitution - Missense 13:35628114-35628114 + TCGA-46-3768-01 COSM696695 c.201C>T p.I67I Substitution - coding silent 13:34943021-34943021 + SNU-C4 COSM3711053 c.3953G>A p.R1318H Substitution - Missense 13:35161841-35161841 + RK167_C01 COSM1629062 c.574G>A p.V192I Substitution - Missense 13:35044994-35044994 + ESCC_8 COSM5623434 c.8554A>T p.N2852Y Substitution - Missense 13:35667526-35667526 + TCGA-EB-A41B-01 COSM3468572 c.8423C>T p.T2808I Substitution - Missense 13:35667395-35667395 + sysucc-1317T COSM5448588 c.3889C>A p.Q1297K Substitution - Missense 13:35161777-35161777 + TCGA-EE-A29D-06 COSM696691 c.1480C>T p.H494Y Substitution - Missense 13:35070761-35070761 + HCC2998 COSM2072044 c.3439C>A p.L1147I Substitution - Missense 13:35159610-35159610 + TCGA-CM-5860-01 COSM5157557 c.1001G>A p.R334Q Substitution - Missense 13:35655717-35655717 + TCGA-A6-5665-01 COSM1366606 c.7249G>A p.V2417I Substitution - Missense 13:35593400-35593400 + OSCC-GB_00750111 COSM4891122 c.435A>G p.R145R Substitution - coding silent 13:35041073-35041073 + TCGA-BF-A1PV-01 COSM3468567 c.8106C>T p.F2702F Substitution - coding silent 13:35654988-35654988 + ESO-0053 COSM1258747 c.6546A>C p.V2182V Substitution - coding silent 13:35472497-35472497 + CSCC-60-T COSM4554788 c.6313G>A p.E2105K Substitution - Missense 13:35452100-35452100 + RK193_C01 COSM3744143 c.8174G>A p.C2725Y Substitution - Missense 13:35655624-35655624 + DLD1 COSM4622814 c.96C>T p.S32S Substitution - coding silent 13:34942916-34942916 + HCC77 COSM1607030 c.7432G>T p.V2478L Substitution - Missense 13:35606561-35606561 + CSCC-31-T COSM4510750 c.8475C>T p.F2825F Substitution - coding silent 13:35667447-35667447 + CHC892T COSM3885275 c.610G>A p.G204R Substitution - Missense 13:35045030-35045030 + sysucc-1512T COSM5450717 c.4442G>A p.R1481K Substitution - Missense 13:35173482-35173482 + I2L-P7-Tumor-Organoid COSM5362252 c.3347G>A p.G1116D Substitution - Missense 13:35159518-35159518 + PCSI_0078_Pa_X COSM3376535 c.3904C>T p.R1302* Substitution - Nonsense 13:35161792-35161792 + TCGA-CD-5801-01 COSM4047179 c.2163T>C p.D721D Substitution - coding silent 13:35118394-35118394 + TCGA-04-1348-01 COSM75564 c.1087A>T p.N363Y Substitution - Missense 13:35056124-35056124 + HCT15 COSM2071968 c.132G>T p.E44D Substitution - Missense 13:34942952-34942952 + TCGA-CA-6717-01 COSM1366594 c.6379G>T p.E2127* Substitution - Nonsense 13:35452166-35452166 + CHC1704T COSM4804174 c.6112C>G p.Q2038E Substitution - Missense 13:35352256-35352256 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.491172 13q13 604889

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AATATATATATATA - IntronicDeletion . c.5777-12280_5777-12267delAATATATATATATA 13 35852246 CLL A C IntronicSNV . c.6586-20253A>C 13 36104361 CLL A C Missense p.E1656D c.4968A>C 13 35770041 STAD A C Missense p.E2330D c.6990A>C 13 36141109 STAD A C Missense p.H733P c.2198A>C 13 35692566 LUSC A C Missense p.K2111T c.6332A>C 13 36026256 CM A C Missense p.K250T c.749A>C 13 35622725 OV A C Missense p.K977Q c.2929A>C 13 35733237 COREAD A C Missense p.K995N c.2985A>C 13 35733293 STAD A C Missense p.N1950T c.5849A>C 13 35883675 STAD A C Missense p.N903H c.2707A>C 13 35731270 ESCA A C Missense p.Q162H c.486A>C 13 35615261 ESCA A C SpliceAcceptorSNV . c.6449-2A>C 13 36046535 CLL A C Synonymous p.V2182V c.6546A>C 13 36046634 ESCA AG - IntronicDeletion . c.7618-8431_7618-8430delGA 13 36211964 CLL A G Missense p.I111V c.331A>G 13 35615106 LUSC A G Missense p.I1978V c.5932A>G 13 35923273 BLCA A G Missense p.I2612V c.7834A>G 13 36223918 STAD A G Missense p.N1141S c.3422A>G 13 35733730 CM A G Missense p.N1392S c.4175A>G 13 35738588 RCCC A G Missense p.T1673A c.5017A>G 13 35770090 LUSC A G Missense p.T2428A c.7282A>G 13 36167570 UCEC A G SpliceAcceptorSNV . c.4928-2A>G 13 35769999 LUSC A G SpliceAcceptorSNV . c.5904-2A>G 13 35923243 LGG A G Synonymous p.E2842E c.8526A>G 13 36241635 HNSC A G Synonymous p.K1206K c.3618A>G 13 35733926 CM A G Synonymous p.K549K c.1647A>G 13 35672509 UCEC A G Synonymous p.K781K c.2343A>G 13 35716412 UCEC A G Synonymous p.V2716V c.8148A>G 13 36229735 CM AGT - InFrameDeletion p.V1052delV c.3154_3156delGTA 13 35733461 BRCA ATAAAGTAAA - IntronicDeletion . c.4079+283_4079+292delATAAAGTAAA 13 35736387 CLL A T IntronicSNV . c.1571+8636A>T 13 35653625 CLL A T Missense p.E1137D c.3411A>T 13 35733719 COREAD A T Missense p.H565L c.1694A>T 13 35683440 ESCA A T Missense p.I1685F c.5053A>T 13 35770126 HNSC A T Missense p.I2692F c.8074A>T 13 36229093 BRCA A T Missense p.K1653N c.4959A>T 13 35770032 BRCA A T Missense p.M2231L c.6691A>T 13 36124719 MB A T Missense p.N1742I c.5225A>T 13 35770298 COREAD A T Missense p.N363Y c.1087A>T 13 35630261 OV A T Missense p.Q1290L c.3869A>T 13 35735894 HNSC A T Missense p.Q321H c.963A>T 13 35624523 LUAD A T Missense p.S1164C c.3490A>T 13 35733798 ESCA A T Missense p.Y1018F c.3053A>T 13 35733361 LUAD A T Missense p.Y2691F c.8072A>T 13 36229091 HNSC A T Synonymous p.A2307A c.6921A>T 13 36129238 LUAD A T Synonymous p.V821V c.2463A>T 13 35729928 ESCA - ATTTTTT IntronicInsertion . c.5904-17091_5904-17090insATTTTTT 13 35906154 CLL C A 3-UTRSNV . c.8838+85C>A 13 36245210 HC - CAAAAAAA IntronicInsertion . c.4831+592_4831+593insCAAAAAAA 13 35757257 CLL C A IntronicSNV . c.5903+6319C>A 13 35890048 CLL C A Missense p.L703I c.2107C>A 13 35692389 COREAD C A Missense p.P1078Q c.3233C>A 13 35733541 LUAD C A Missense p.P1781H c.5342C>A 13 35770415 LUSC C A Missense p.Q1920K c.5758C>A 13 35806738 UCEC C A Missense p.Q2875K c.8623C>A 13 36242529 STAD C A Missense p.T2305N c.6914C>A 13 36129231 UCEC C A Missense p.T2777K c.8330C>A 13 36239252 COREAD C A Synonymous p.A186A c.558C>A 13 35619115 UCEC C A Synonymous p.P2613P c.7839C>A 13 36223923 STAD CATAACACAATTCACCT - Frameshift p.N1381Ffs*28 c.4141_4157delAACACAATTCACCTCAT 13 35738551 OV CC TT Missense p.L2805F c.8412_8413delinsTT 13 36241521 CM CC TT Missense p.S2172F c.6515_6516delinsTT 13 36046603 CM C - Frameshift p.P2803Lfs*12 c.8408delC 13 36241515 LUAD C G IntronicSNV . c.1239+578C>G 13 35633578 CLL C G Missense p.I208M c.624C>G 13 35619181 CM C G Missense p.I902M c.2706C>G 13 35731269 UCEC C G Missense p.P1311R c.3932C>G 13 35735957 STAD C G Missense p.P63A c.187C>G 13 35517144 HNSC C G Missense p.T802R c.2405C>G 13 35716474 HC C G Nonsense p.S2217* c.6650C>G 13 36124678 LUSC C G Synonymous p.T808T c.2424C>G 13 35716493 CM C T IntronicSNV . c.5367-1300C>T 13 35781537 CLL C T IntronicSNV . c.6180-20247C>T 13 35986159 CLL C T Missense p.A1566V c.4697C>T 13 35756531 CM C T Missense p.A1646V c.4937C>T 13 35770010 STAD C T Missense p.A1973V c.5918C>T 13 35923259 STAD C T Missense p.A2149V c.6446C>T 13 36026370 STAD C T Missense p.A2604V c.7811C>T 13 36223895 UCEC C T Missense p.A953V c.2858C>T 13 35733166 BRCA C T Missense p.H2568Y c.7702C>T 13 36220480 RCCC C T Missense p.H2914Y c.8740C>T 13 36242646 CM C T Missense p.H494Y c.1480C>T 13 35644898 CM C T Missense p.L1627F c.4879C>T 13 35758160 CM C T Missense p.P1128S c.3382C>T 13 35733690 CM C T Missense p.P1530S c.4588C>T 13 35751166 CM C T Missense p.P1534L c.4601C>T 13 35751179 UCEC C T Missense p.P1649S c.4945C>T 13 35770018 CM C T Missense p.P1770L c.5309C>T 13 35770382 CM C T Missense p.P229S c.685C>T 13 35619500 CM C T Missense p.P2559L c.7676C>T 13 36220454 CM C T Missense p.P2594S c.7780C>T 13 36223864 CM C T Missense p.P2770L c.8309C>T 13 36239231 CM C T Missense p.P2770L c.8309C>T 13 36239231 UCEC C T Missense p.P57S c.169C>T 13 35517126 CM C T Missense p.R1325W c.3973C>T 13 35735998 OV C T Missense p.R149W c.445C>T 13 35615220 OV C T Missense p.R1912C c.5734C>T 13 35806714 UCEC C T Missense p.R2219C c.6655C>T 13 36124683 UCEC C T Missense p.S1572L c.4715C>T 13 35756549 CM C T Missense p.S2088F c.6263C>T 13 36006489 CM C T Missense p.S2913F c.8738C>T 13 36242644 CM C T Missense p.S472F c.1415C>T 13 35644220 CM C T Missense p.S53L c.158C>T 13 35517115 CM C T Missense p.S988L c.2963C>T 13 35733271 CM C T Missense p.T2103M c.6308C>T 13 36026232 BLCA C T Missense p.T2175M c.6524C>T 13 36046612 STAD C T Missense p.T2364I c.7091C>T 13 36158090 LUAD C T Nonsense p.Q1505* c.4513C>T 13 35747690 CM C T Nonsense p.Q1539* c.4615C>T 13 35751193 HNSC C T Nonsense p.Q222* c.664C>T 13 35619479 BLCA C T Nonsense p.Q2369* c.7105C>T 13 36158104 MM C T Nonsense p.Q743* c.2227C>T 13 35692595 CM C T Nonsense p.R2080* c.6238C>T 13 36006464 COREAD C T Nonsense p.R2277* c.6829C>T 13 36129146 CM C T Nonsense p.R2845* c.8533C>T 13 36241642 HNSC C T Nonsense p.R696* c.2086C>T 13 35692368 UCEC C T Synonymous p.A2008A c.6024C>T 13 35926305 CM C T Synonymous p.D1268D c.3804C>T 13 35734112 UCEC C T Synonymous p.D2873D c.8619C>T 13 36242525 STAD C T Synonymous p.F2241F c.6723C>T 13 36125086 CM C T Synonymous p.F2571F c.7713C>T 13 36223797 CM C T Synonymous p.F2702F c.8106C>T 13 36229125 CM C T Synonymous p.H645H c.1935C>T 13 35685048 OV C T Synonymous p.I2161I c.6483C>T 13 36046571 ESCA C T Synonymous p.I2192I c.6576C>T 13 36046664 CM C T Synonymous p.I2739I c.8217C>T 13 36229804 CM C T Synonymous p.I2739I c.8217C>T 13 36229804 HNSC C T Synonymous p.I67I c.201C>T 13 35517158 LUSC C T Synonymous p.I91I c.273C>T 13 35517230 BRCA C T Synonymous p.N1950N c.5850C>T 13 35883676 CM C T Synonymous p.S1387S c.4161C>T 13 35738574 CM C T Synonymous p.S2833S c.8499C>T 13 36241608 STAD C T Synonymous p.S329S c.987C>T 13 35630161 LUAD C T Synonymous p.V1020V c.3060C>T 13 35733368 LUSC G A IntronicSNV . c.6305-6274G>A 13 36019955 CLL G A IntronicSNV . c.6585+11400G>A 13 36058073 CLL G A Missense p.A1758T c.5272G>A 13 35770345 HNSC G A Missense p.D1125N c.3373G>A 13 35733681 CM G A Missense p.D1674N c.5020G>A 13 35770093 CM G A Missense p.D1788N c.5362G>A 13 35770435 COREAD G A Missense p.D2367N c.7099G>A 13 36158098 CM G A Missense p.D2404N c.7210G>A 13 36167498 CM G A Missense p.E1156K c.3466G>A 13 35733774 CM G A Missense p.E1276K c.3826G>A 13 35734134 CM G A Missense p.E1724K c.5170G>A 13 35770243 CM G A Missense p.E2017K c.6049G>A 13 35926330 CM G A Missense p.E2127K c.6379G>A 13 36026303 CM G A Missense p.E2330K c.6988G>A 13 36141107 LUSC G A Missense p.E2393K c.7177G>A 13 36167465 LUAD G A Missense p.E2834K c.8500G>A 13 36241609 CM G A Missense p.E999K c.2995G>A 13 35733303 CM G A Missense p.G101S c.301G>A 13 35615076 CM G A Missense p.G1179D c.3536G>A 13 35733844 CM G A Missense p.G1967E c.5900G>A 13 35883726 CM G A Missense p.G2205R c.6613G>A 13 36124641 CM G A Missense p.G2405E c.7214G>A 13 36167502 CM G A Missense p.G2508R c.7522G>A 13 36202290 GBM G A Missense p.G2634S c.7900G>A 13 36223984 CM G A Missense p.G2696R c.8086G>A 13 36229105 CM G A Missense p.G2742R c.8224G>A 13 36229811 CM G A Missense p.G2881E c.8642G>A 13 36242548 CM G A Missense p.G626R c.1876G>A 13 35684989 CM G A Missense p.M173I c.519G>A 13 35615294 OV G A Missense p.M2208I c.6624G>A 13 36124652 GBM G A Missense p.M2589I c.7767G>A 13 36223851 CM G A Missense p.M327I c.981G>A 13 35630155 CM G A Missense p.R1330H c.3989G>A 13 35736014 UCEC G A Missense p.R145Q c.434G>A 13 35615209 CM G A Missense p.R1580H c.4739G>A 13 35756573 UCEC G A Missense p.R2213Q c.6638G>A 13 36124666 STAD G A Missense p.R2234Q c.6701G>A 13 36124729 CM G A Missense p.R2270K c.6809G>A 13 36129126 HNSC G A Missense p.R2507Q c.7520G>A 13 36202288 BRCA G A Missense p.S189N c.566G>A 13 35619123 CM G A Missense p.V2455I c.7363G>A 13 36180629 UCEC G A Missense p.V273I c.817G>A 13 35622793 HC G A Missense p.V981M c.2941G>A 13 35733249 LUAD G A Nonsense p.W137* c.410G>A 13 35615185 CM G A Nonsense p.W2720* c.8159G>A 13 36229746 BLCA G A Nonsense p.W932* c.2796G>A 13 35731359 CM G A Synonymous p.A1891A c.5673G>A 13 35806653 COREAD G A Synonymous p.G2710G c.8130G>A 13 36229717 CM G A Synonymous p.T1285T c.3855G>A 13 35734163 STAD G C Missense p.A1959P c.5875G>C 13 35883701 GBM G C Missense p.G638R c.1912G>C 13 35685025 GBM G C Missense p.R203P c.608G>C 13 35619165 GBM G C Missense p.R2219P c.6656G>C 13 36124684 OV G C Missense p.V1090L c.3268G>C 13 35733576 HNSC G C Missense p.V640L c.1918G>C 13 35685031 HNSC G C SpliceDonorSNV . c.6304+1G>C 13 36006531 STAD G C Synonymous p.V1857V c.5571G>C 13 35785239 BRCA G - Frameshift p.A427Qfs*50 c.1279delG 13 35644083 LUAD GG AA Missense p.E194K c.579_580delinsAA 13 35619136 HNSC GG TT Missense p.G59W c.174_175delinsTT 13 35517131 CM G T IntronicSNV . c.6585+21920G>T 13 36068593 HC G T Missense p.A622S c.1864G>T 13 35684977 LUAD G T Missense p.C1929F c.5786G>T 13 35864535 LUSC G T Missense p.D2342Y c.7024G>T 13 36141143 ESCA G T Missense p.G2735W c.8203G>T 13 36229790 UCEC G T Missense p.G2802C c.8404G>T 13 36241513 LUAD G T Missense p.G547V c.1640G>T 13 35672502 LUAD G T Missense p.L800F c.2400G>T 13 35716469 BRCA G T Missense p.M541I c.1623G>T 13 35672485 LUSC G T Missense p.R1774I c.5321G>T 13 35770394 LUAD G T Missense p.V523F c.1567G>T 13 35644985 UCEC G T Nonsense p.E103* c.307G>T 13 35615082 UCEC G T Nonsense p.E1984* c.5950G>T 13 35923291 LUSC G T Synonymous p.G2169G c.6507G>T 13 36046595 LUAD G T Synonymous p.L1942L c.5826G>T 13 35864575 LUSC G T Synonymous p.L2515L c.7545G>T 13 36202313 LUAD G T Synonymous p.T2103T c.6309G>T 13 36026233 LUSC G T Synonymous p.V1612V c.4836G>T 13 35758117 RCCC G T Synonymous p.V2152V c.6456G>T 13 36046544 RCCC T A IntronicSNV . c.5776+18684T>A 13 35825440 HC T A Missense p.F235I c.703T>A 13 35619518 CM T A Missense p.L620M c.1858T>A 13 35684971 CM T C Missense p.F2593S c.7778T>C 13 36223862 CM T C Missense p.I174T c.521T>C 13 35615296 CM T C Missense p.I78T c.233T>C 13 35517190 CLL T C Missense p.L707S c.2120T>C 13 35692402 CM T C Missense p.V289A c.866T>C 13 35624426 CM T C Synonymous p.A2012A c.6036T>C 13 35926317 BLCA T C Synonymous p.D721D c.2163T>C 13 35692531 STAD T C Synonymous p.F2548F c.7644T>C 13 36220422 HC T C Synonymous p.G1291G c.3873T>C 13 35735898 CM T C Synonymous p.I1735I c.5205T>C 13 35770278 OV T C Synonymous p.L800L c.2398T>C 13 35716467 CM T C Synonymous p.L924L c.2770T>C 13 35731333 MM T C Synonymous p.N1126N c.3378T>C 13 35733686 UCEC TCT - InFrameDeletion p.S1498delS c.4491_4493delTTC 13 35747666 RCCC T - Frameshift p.P1722Lfs*5 c.5163delT 13 35770236 RCCC T G Missense p.I902S c.2705T>G 13 35731268 CM T G Missense p.L217V c.649T>G 13 35619464 CM T G Missense p.V360G c.1079T>G 13 35630253 LUAD T G Synonymous p.T2089T c.6267T>G 13 36006493 STAD T - IntronicDeletion . c.7296+63delT 13 36167641 ESCA T - IntronicDeletion . c.7707+33delT 13 36220510 ESCA TT - Frameshift p.L1225Sfs*5 c.3673_3674delTT 13 35733981 BRCA