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 19 2987370 2987370 + Splice_Site SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 g.chr19:2987370G>A c.558G>A c.(556-558)ctG>ctA p.L186L BLCA 19 2987903 2987903 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr19:2987903G>A c.633G>A c.(631-633)agG>agA p.R211R BLCA 19 2989613 2989613 + Silent SNP C C T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr19:2989613C>T c.1074C>T c.(1072-1074)agC>agT p.S358S BLCA 19 2989724 2989724 + Silent SNP C C T TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr19:2989724C>T c.1185C>T c.(1183-1185)ttC>ttT p.F395F BLCA 19 2991962 2991962 + Nonsense_Mutation SNP G G T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr19:2991962G>T c.1366G>T c.(1366-1368)Gag>Tag p.E456* BLCA 19 2993567 2993567 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr19:2993567G>A c.1524G>A c.(1522-1524)aaG>aaA p.K508K BRCA 19 2980133 2980133 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr19:2980133G>A c.87G>A c.(85-87)ccG>ccA p.P29P BRCA 19 2987056 2987056 + Missense_Mutation SNP G G C TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr19:2987056G>C c.361G>C c.(361-363)Gag>Cag p.E121Q BRCA 19 2987237 2987238 + Splice_Site DEL GT GT - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 g.chr19:2987237_2987238delGT c.e7+1 BRCA 19 2987728 2987728 + Nonsense_Mutation SNP G G T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 g.chr19:2987728G>T c.565G>T c.(565-567)Gaa>Taa p.E189* BRCA 19 2989231 2989231 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr19:2989231G>A c.913G>A c.(913-915)Ggc>Agc p.G305S BRCA 19 2993572 2993572 + Missense_Mutation SNP C C G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr19:2993572C>G c.1529C>G c.(1528-1530)tCc>tGc p.S510C BRCA 19 2994071 2994071 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 g.chr19:2994071C>T c.1592C>T c.(1591-1593)cCg>cTg p.P531L CESC 19 2986844 2986844 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr19:2986844G>C c.240G>C c.(238-240)caG>caC p.Q80H CESC 19 2987353 2987353 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr19:2987353G>A c.e8-1 CESC 19 2988095 2988095 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr19:2988095C>A c.709C>A c.(709-711)Cct>Act p.P237T COAD 19 2981556 2981556 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr19:2981556C>T c.155C>T c.(154-156)gCg>gTg p.A52V COAD 19 2987724 2987724 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr19:2987724G>A c.561G>A c.(559-561)ggG>ggA p.G187G COAD 19 2987785 2987785 + Missense_Mutation SNP T T G TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr19:2987785T>G c.622T>G c.(622-624)Tcc>Gcc p.S208A COAD 19 2989140 2989140 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:2989140G>A c.822G>A c.(820-822)ccG>ccA p.P274P COAD 19 2989551 2989551 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:2989551C>T c.1012C>T c.(1012-1014)Cgc>Tgc p.R338C COAD 19 2991865 2991865 + Silent SNP A A C TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr19:2991865A>C c.1269A>C c.(1267-1269)ggA>ggC p.G423G COAD 19 2991958 2991958 + Silent SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:2991958T>C c.1362T>C c.(1360-1362)ccT>ccC p.P454P COAD 19 2993570 2993570 + Missense_Mutation SNP C C G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:2993570C>G c.1527C>G c.(1525-1527)ttC>ttG p.F509L COAD 19 2994023 2994023 + Nonsense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr19:2994023G>A c.1544G>A c.(1543-1545)tGg>tAg p.W515* COADREAD 19 2978266 2978266 + Missense_Mutation SNP C C A TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr19:2978266C>A c.35C>A c.(34-36)cCc>cAc p.P12H COADREAD 19 2980147 2980147 + Missense_Mutation SNP A A G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr19:2980147A>G c.101A>G c.(100-102)cAg>cGg p.Q34R COADREAD 19 2981556 2981556 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr19:2981556C>T c.155C>T c.(154-156)gCg>gTg p.A52V COADREAD 19 2987724 2987724 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr19:2987724G>A c.561G>A c.(559-561)ggG>ggA p.G187G COADREAD 19 2987785 2987785 + Missense_Mutation SNP T T G TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr19:2987785T>G c.622T>G c.(622-624)Tcc>Gcc p.S208A COADREAD 19 2987915 2987915 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:2987915C>A c.645C>A c.(643-645)gcC>gcA p.A215A COADREAD 19 2989140 2989140 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:2989140G>A c.822G>A c.(820-822)ccG>ccA p.P274P COADREAD 19 2989551 2989551 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:2989551C>T c.1012C>T c.(1012-1014)Cgc>Tgc p.R338C COADREAD 19 2991865 2991865 + Silent SNP A A C TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr19:2991865A>C c.1269A>C c.(1267-1269)ggA>ggC p.G423G COADREAD 19 2991958 2991958 + Silent SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:2991958T>C c.1362T>C c.(1360-1362)ccT>ccC p.P454P COADREAD 19 2993570 2993570 + Missense_Mutation SNP C C G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:2993570C>G c.1527C>G c.(1525-1527)ttC>ttG p.F509L COADREAD 19 2994023 2994023 + Nonsense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr19:2994023G>A c.1544G>A c.(1543-1545)tGg>tAg p.W515* ESCA 19 2987131 2987131 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr19:2987131C>T c.436C>T c.(436-438)Ctg>Ttg p.L146L ESCA 19 2987362 2987362 + Missense_Mutation SNP C C T TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr19:2987362C>T c.550C>T c.(550-552)Cca>Tca p.P184S HNSC 19 2987144 2987144 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr19:2987144A>G c.449A>G c.(448-450)aAg>aGg p.K150R HNSC 19 2987363 2987363 + Missense_Mutation SNP C C T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr19:2987363C>T c.551C>T c.(550-552)cCa>cTa p.P184L HNSC 19 2987759 2987759 + Missense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 g.chr19:2987759G>A c.596G>A c.(595-597)gGa>gAa p.G199E HNSC 19 2991911 2991911 + Missense_Mutation SNP C C T TCGA-CN-A497-01A-11D-A24D-08 TCGA-CN-A497-10A-01D-A24F-08 g.chr19:2991911C>T c.1315C>T c.(1315-1317)Ccg>Tcg p.P439S HNSC 19 2993528 2993528 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chr19:2993528C>T c.1485C>T c.(1483-1485)caC>caT p.H495H KIPAN 19 2987356 2987356 + Nonsense_Mutation SNP C C T TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr19:2987356C>T c.544C>T c.(544-546)Cag>Tag p.Q182* KIPAN 19 2987728 2987728 + Missense_Mutation SNP G G A TCGA-BP-5180-01A-01D-1429-08 TCGA-BP-5180-11A-01D-1429-08 g.chr19:2987728G>A c.565G>A c.(565-567)Gaa>Aaa p.E189K KIRC 19 2987728 2987728 + Missense_Mutation SNP G G A TCGA-BP-5180-01A-01D-1429-08 TCGA-BP-5180-11A-01D-1429-08 g.chr19:2987728G>A c.565G>A c.(565-567)Gaa>Aaa p.E189K KIRP 19 2987356 2987356 + Nonsense_Mutation SNP C C T TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr19:2987356C>T c.544C>T c.(544-546)Cag>Tag p.Q182* LAML 19 2989633 2989633 + Missense_Mutation SNP C C G TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 g.chr19:2989633C>G c.1094C>G c.(1093-1095)gCg>gGg p.A365G LIHC 19 2989558 2989558 + Missense_Mutation SNP G G A TCGA-BC-A10Z-01A-11D-A12Z-10 TCGA-BC-A10Z-11A-11D-A12Z-10 g.chr19:2989558G>A c.1019G>A c.(1018-1020)tGc>tAc p.C340Y LUAD 19 2987939 2987939 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr19:2987939C>A c.669C>A c.(667-669)tcC>tcA p.S223S LUAD 19 2989238 2989238 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr19:2989238G>T c.920G>T c.(919-921)aGa>aTa p.R307I LUSC 19 2989088 2989088 + Missense_Mutation SNP C C T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr19:2989088C>T c.770C>T c.(769-771)gCa>gTa p.A257V OV 19 2991957 2991957 + Missense_Mutation SNP C C A TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr19:2991957C>A c.1361C>A c.(1360-1362)cCt>cAt p.P454H PAAD 19 2987962 2987962 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:2987962G>A c.692G>A c.(691-693)gGt>gAt p.G231D PAAD 19 2993462 2993462 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:2993462C>A c.1419C>A c.(1417-1419)gaC>gaA p.D473E READ 19 2978266 2978266 + Missense_Mutation SNP C C A TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr19:2978266C>A c.35C>A c.(34-36)cCc>cAc p.P12H READ 19 2980147 2980147 + Missense_Mutation SNP A A G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr19:2980147A>G c.101A>G c.(100-102)cAg>cGg p.Q34R READ 19 2987915 2987915 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:2987915C>A c.645C>A c.(643-645)gcC>gcA p.A215A SKCM 19 2987014 2987014 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr19:2987014C>T c.319C>T c.(319-321)Ccc>Tcc p.P107S SKCM 19 2987015 2987015 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr19:2987015C>T c.320C>T c.(319-321)cCc>cTc p.P107L SKCM 19 2987089 2987089 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr19:2987089C>T c.394C>T c.(394-396)Ctc>Ttc p.L132F SKCM 19 2987153 2987153 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr19:2987153G>A c.458G>A c.(457-459)tGg>tAg p.W153* SKCM 19 2987189 2987189 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr19:2987189G>A c.494G>A c.(493-495)cGg>cAg p.R165Q SKCM 19 2987234 2987234 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr19:2987234G>A c.539G>A c.(538-540)aGa>aAa p.R180K SKCM 19 2987367 2987367 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr19:2987367C>T c.555C>T c.(553-555)ggC>ggT p.G185G SKCM 19 2989206 2989206 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:2989206C>T c.888C>T c.(886-888)agC>agT p.S296S SKCM 19 2989288 2989288 + Missense_Mutation SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr19:2989288C>T c.970C>T c.(970-972)Cct>Tct p.P324S SKCM 19 2989579 2989579 + Missense_Mutation SNP G G A TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr19:2989579G>A c.1040G>A c.(1039-1041)aGg>aAg p.R347K SKCM 19 2989603 2989603 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr19:2989603A>G c.1064A>G c.(1063-1065)aAc>aGc p.N355S SKCM 19 2991877 2991877 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr19:2991877C>T c.1281C>T c.(1279-1281)atC>atT p.I427I SKCM 19 2991913 2991913 + Silent SNP G G T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr19:2991913G>T c.1317G>T c.(1315-1317)ccG>ccT p.P439P SKCM 19 2991957 2991957 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr19:2991957C>T c.1361C>T c.(1360-1362)cCt>cTt p.P454L SKCM 19 2993568 2993568 + Missense_Mutation SNP T T C TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:2993568T>C c.1525T>C c.(1525-1527)Ttc>Ctc p.F509L SKCM 19 2994037 2994037 + Missense_Mutation SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr19:2994037G>A c.1558G>A c.(1558-1560)Gga>Aga p.G520R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 2987903 2987903 single base substitution G A downstream_gene_variant BLCA-US 19 2987903 2987903 single base substitution G A exon_variant BLCA-US 19 2987903 2987903 single base substitution G A synonymous_variant R211R 633G>A BLCA-US 19 2987903 2987903 single base substitution G A synonymous_variant R88R 264G>A BLCA-US 19 2987903 2987903 single base substitution G A upstream_gene_variant BOCA-FR 19 2987502 2987502 single base substitution G C downstream_gene_variant BOCA-FR 19 2987502 2987502 single base substitution G C exon_variant BOCA-FR 19 2987502 2987502 single base substitution G C intron_variant BOCA-FR 19 2987502 2987502 single base substitution G C upstream_gene_variant BRCA-EU 19 2974838 2974838 single base substitution T A upstream_gene_variant BRCA-EU 19 2978381 2978381 single base substitution G A intron_variant BRCA-EU 19 2979486 2979486 single base substitution C G intron_variant BRCA-EU 19 2979486 2979486 single base substitution C G upstream_gene_variant BRCA-EU 19 2984694 2984694 single base substitution G A downstream_gene_variant BRCA-EU 19 2984694 2984694 single base substitution G A intron_variant BRCA-EU 19 2984694 2984694 single base substitution G A upstream_gene_variant BRCA-EU 19 2985233 2985233 single base substitution G A downstream_gene_variant BRCA-EU 19 2985233 2985233 single base substitution G A intron_variant BRCA-EU 19 2985233 2985233 single base substitution G A upstream_gene_variant BRCA-EU 19 2986613 2986613 single base substitution G A intron_variant BRCA-EU 19 2986613 2986613 single base substitution G A upstream_gene_variant BRCA-EU 19 2986622 2986622 single base substitution G C intron_variant BRCA-EU 19 2986622 2986622 single base substitution G C upstream_gene_variant BRCA-EU 19 2988243 2988243 single base substitution T A downstream_gene_variant BRCA-EU 19 2988243 2988243 single base substitution T A intron_variant BRCA-EU 19 2988243 2988243 single base substitution T A upstream_gene_variant BRCA-EU 19 2990368 2990368 single base substitution A T downstream_gene_variant BRCA-EU 19 2990368 2990368 single base substitution A T intron_variant BRCA-EU 19 2990970 2990970 single base substitution G T downstream_gene_variant BRCA-EU 19 2990970 2990970 single base substitution G T intron_variant BRCA-EU 19 2991807 2991807 single base substitution G C downstream_gene_variant BRCA-EU 19 2991807 2991807 single base substitution G C intron_variant BRCA-EU 19 2991812 2991812 single base substitution G C downstream_gene_variant BRCA-EU 19 2991812 2991812 single base substitution G C intron_variant BRCA-EU 19 2991857 2991857 single base substitution C A downstream_gene_variant BRCA-EU 19 2991857 2991857 single base substitution C A exon_variant BRCA-EU 19 2991857 2991857 single base substitution C A missense_variant P298T 892C>A BRCA-EU 19 2991857 2991857 single base substitution C A missense_variant P421T 1261C>A BRCA-EU 19 2991980 2991980 single base substitution C A downstream_gene_variant BRCA-EU 19 2991980 2991980 single base substitution C A missense_variant Q339K 1015C>A BRCA-EU 19 2991980 2991980 single base substitution C A missense_variant Q462K 1384C>A BRCA-EU 19 2991980 2991980 single base substitution C A splice_region_variant BRCA-EU 19 2991996 2991996 single base substitution G A downstream_gene_variant BRCA-EU 19 2991996 2991996 single base substitution G A intron_variant BRCA-EU 19 2992455 2992455 single base substitution A T downstream_gene_variant BRCA-EU 19 2992455 2992455 single base substitution A T intron_variant BRCA-EU 19 2994072 2994072 single base substitution G T downstream_gene_variant BRCA-EU 19 2994072 2994072 single base substitution G T exon_variant BRCA-EU 19 2994072 2994072 single base substitution G T synonymous_variant P408P 1224G>T BRCA-EU 19 2994072 2994072 single base substitution G T synonymous_variant P531P 1593G>T BRCA-EU 19 2994074 2994074 single base substitution C T downstream_gene_variant BRCA-EU 19 2994074 2994074 single base substitution C T exon_variant BRCA-EU 19 2994074 2994074 single base substitution C T missense_variant A409V 1226C>T BRCA-EU 19 2994074 2994074 single base substitution C T missense_variant A532V 1595C>T BRCA-EU 19 2994232 2994232 single base substitution G C downstream_gene_variant BRCA-EU 19 2994232 2994232 single base substitution G C intron_variant BRCA-EU 19 2994849 2994849 single base substitution G T downstream_gene_variant BRCA-EU 19 2994849 2994849 single base substitution G T intron_variant BRCA-EU 19 2994886 2994886 single base substitution C T downstream_gene_variant BRCA-EU 19 2994886 2994886 single base substitution C T intron_variant BRCA-EU 19 2994904 2994904 single base substitution G A downstream_gene_variant BRCA-EU 19 2994904 2994904 single base substitution G A exon_variant BRCA-EU 19 2994904 2994904 single base substitution G A missense_variant E418K 1252G>A BRCA-EU 19 2994904 2994904 single base substitution G A missense_variant E541K 1621G>A BRCA-EU 19 2995653 2995653 single base substitution G A downstream_gene_variant BRCA-EU 19 2996695 2996695 single base substitution T C downstream_gene_variant BRCA-EU 19 2997496 2997496 single base substitution C T downstream_gene_variant BRCA-EU 19 2999286 2999286 single base substitution A C downstream_gene_variant BRCA-FR 19 2977528 2977528 single base substitution G A 5_prime_UTR_variant BRCA-FR 19 2977528 2977528 single base substitution G A upstream_gene_variant BRCA-FR 19 2978875 2978875 single base substitution A G intron_variant BRCA-FR 19 2986613 2986613 single base substitution G A intron_variant BRCA-FR 19 2986613 2986613 single base substitution G A upstream_gene_variant BRCA-FR 19 2991807 2991807 single base substitution G C downstream_gene_variant BRCA-FR 19 2991807 2991807 single base substitution G C intron_variant BRCA-FR 19 2991812 2991812 single base substitution G C downstream_gene_variant BRCA-FR 19 2991812 2991812 single base substitution G C intron_variant BRCA-FR 19 2991996 2991996 single base substitution G A downstream_gene_variant BRCA-FR 19 2991996 2991996 single base substitution G A intron_variant BRCA-FR 19 2994074 2994074 single base substitution C T downstream_gene_variant BRCA-FR 19 2994074 2994074 single base substitution C T exon_variant BRCA-FR 19 2994074 2994074 single base substitution C T missense_variant A409V 1226C>T BRCA-FR 19 2994074 2994074 single base substitution C T missense_variant A532V 1595C>T BRCA-FR 19 2996695 2996695 single base substitution T C downstream_gene_variant BRCA-FR 19 2997496 2997496 single base substitution C T downstream_gene_variant BRCA-UK 19 2982865 2982865 single base substitution G A downstream_gene_variant BRCA-UK 19 2982865 2982865 single base substitution G A intron_variant BRCA-UK 19 2982865 2982865 single base substitution G A upstream_gene_variant BRCA-UK 19 2999658 2999658 single base substitution G T downstream_gene_variant BRCA-UK 19 2999829 2999829 single base substitution G A downstream_gene_variant BRCA-US 19 2980133 2980133 single base substitution G A 5_prime_UTR_variant BRCA-US 19 2980133 2980133 single base substitution G A exon_variant BRCA-US 19 2980133 2980133 single base substitution G A synonymous_variant P29P 87G>A BRCA-US 19 2980133 2980133 single base substitution G A upstream_gene_variant BRCA-US 19 2987056 2987056 single base substitution G C 5_prime_UTR_variant BRCA-US 19 2987056 2987056 single base substitution G C exon_variant BRCA-US 19 2987056 2987056 single base substitution G C missense_variant E121Q 361G>C BRCA-US 19 2987056 2987056 single base substitution G C upstream_gene_variant BRCA-US 19 2987237 2987238 deletion of <=200bp GT - downstream_gene_variant BRCA-US 19 2987237 2987238 deletion of <=200bp GT - exon_variant BRCA-US 19 2987237 2987238 deletion of <=200bp GT - splice_donor_variant BRCA-US 19 2987237 2987238 deletion of <=200bp GT - upstream_gene_variant BRCA-US 19 2987728 2987728 single base substitution G T downstream_gene_variant BRCA-US 19 2987728 2987728 single base substitution G T exon_variant BRCA-US 19 2987728 2987728 single base substitution G T stop_gained E189* 565G>T BRCA-US 19 2987728 2987728 single base substitution G T stop_gained E66* 196G>T BRCA-US 19 2987728 2987728 single base substitution G T upstream_gene_variant BRCA-US 19 2989231 2989231 single base substitution G A downstream_gene_variant BRCA-US 19 2989231 2989231 single base substitution G A exon_variant BRCA-US 19 2989231 2989231 single base substitution G A missense_variant G182S 544G>A BRCA-US 19 2989231 2989231 single base substitution G A missense_variant G305S 913G>A BRCA-US 19 2993572 2993572 single base substitution C G downstream_gene_variant BRCA-US 19 2993572 2993572 single base substitution C G exon_variant BRCA-US 19 2993572 2993572 single base substitution C G missense_variant S387C 1160C>G BRCA-US 19 2993572 2993572 single base substitution C G missense_variant S510C 1529C>G BRCA-US 19 2994071 2994071 single base substitution C T downstream_gene_variant BRCA-US 19 2994071 2994071 single base substitution C T exon_variant BRCA-US 19 2994071 2994071 single base substitution C T missense_variant P408L 1223C>T BRCA-US 19 2994071 2994071 single base substitution C T missense_variant P531L 1592C>T BRCA-US 19 2997923 2997923 single base substitution C G downstream_gene_variant BTCA-JP 19 2979979 2979979 single base substitution G A intron_variant BTCA-JP 19 2979979 2979979 single base substitution G A upstream_gene_variant BTCA-JP 19 2979980 2979980 single base substitution C A intron_variant BTCA-JP 19 2979980 2979980 single base substitution C A upstream_gene_variant BTCA-JP 19 2982137 2982137 single base substitution C T downstream_gene_variant BTCA-JP 19 2982137 2982137 single base substitution C T intron_variant BTCA-JP 19 2982137 2982137 single base substitution C T upstream_gene_variant BTCA-JP 19 2987815 2987815 single base substitution G A downstream_gene_variant BTCA-JP 19 2987815 2987815 single base substitution G A exon_variant BTCA-JP 19 2987815 2987815 single base substitution G A intron_variant BTCA-JP 19 2987815 2987815 single base substitution G A upstream_gene_variant BTCA-JP 19 2988227 2988227 insertion of <=200bp - T downstream_gene_variant BTCA-JP 19 2988227 2988227 insertion of <=200bp - T intron_variant BTCA-JP 19 2988227 2988227 insertion of <=200bp - T upstream_gene_variant BTCA-JP 19 2989213 2989213 single base substitution C T downstream_gene_variant BTCA-JP 19 2989213 2989213 single base substitution C T exon_variant BTCA-JP 19 2989213 2989213 single base substitution C T missense_variant R176W 526C>T BTCA-JP 19 2989213 2989213 single base substitution C T missense_variant R299W 895C>T BTCA-JP 19 2989240 2989240 single base substitution G T downstream_gene_variant BTCA-JP 19 2989240 2989240 single base substitution G T exon_variant BTCA-JP 19 2989240 2989240 single base substitution G T missense_variant G185C 553G>T BTCA-JP 19 2989240 2989240 single base substitution G T missense_variant G308C 922G>T BTCA-JP 19 2998086 2998086 single base substitution G C downstream_gene_variant CESC-US 19 2986844 2986844 single base substitution G C 5_prime_UTR_variant CESC-US 19 2986844 2986844 single base substitution G C exon_variant CESC-US 19 2986844 2986844 single base substitution G C missense_variant Q80H 240G>C CESC-US 19 2986844 2986844 single base substitution G C upstream_gene_variant CESC-US 19 2987353 2987353 single base substitution G A downstream_gene_variant CESC-US 19 2987353 2987353 single base substitution G A exon_variant CESC-US 19 2987353 2987353 single base substitution G A splice_acceptor_variant CESC-US 19 2987353 2987353 single base substitution G A upstream_gene_variant CESC-US 19 2988095 2988095 single base substitution C A downstream_gene_variant CESC-US 19 2988095 2988095 single base substitution C A exon_variant CESC-US 19 2988095 2988095 single base substitution C A missense_variant P114T 340C>A CESC-US 19 2988095 2988095 single base substitution C A missense_variant P237T 709C>A CESC-US 19 2988095 2988095 single base substitution C A upstream_gene_variant CLLE-ES 19 2975798 2975798 single base substitution C A upstream_gene_variant CLLE-ES 19 2980242 2980242 single base substitution C G 3_prime_UTR_variant CLLE-ES 19 2980242 2980242 single base substitution C G intron_variant CLLE-ES 19 2980242 2980242 single base substitution C G upstream_gene_variant CLLE-ES 19 2985737 2985737 single base substitution A G intron_variant CLLE-ES 19 2985737 2985737 single base substitution A G upstream_gene_variant CLLE-ES 19 2986369 2986369 single base substitution G A intron_variant CLLE-ES 19 2986369 2986369 single base substitution G A upstream_gene_variant CLLE-ES 19 2988154 2988154 single base substitution G A downstream_gene_variant CLLE-ES 19 2988154 2988154 single base substitution G A intron_variant CLLE-ES 19 2988154 2988154 single base substitution G A upstream_gene_variant COAD-US 19 2978281 2978281 single base substitution C T intron_variant COAD-US 19 2978281 2978281 single base substitution C T missense_variant S17L 50C>T COAD-US 19 2978281 2978281 single base substitution C T splice_region_variant COAD-US 19 2981556 2981556 single base substitution C T 5_prime_UTR_variant COAD-US 19 2981556 2981556 single base substitution C T downstream_gene_variant COAD-US 19 2981556 2981556 single base substitution C T exon_variant COAD-US 19 2981556 2981556 single base substitution C T missense_variant A52V 155C>T COAD-US 19 2981556 2981556 single base substitution C T upstream_gene_variant COAD-US 19 2987724 2987724 single base substitution G A downstream_gene_variant COAD-US 19 2987724 2987724 single base substitution G A exon_variant COAD-US 19 2987724 2987724 single base substitution G A splice_region_variant COAD-US 19 2987724 2987724 single base substitution G A upstream_gene_variant COAD-US 19 2987785 2987785 single base substitution T G downstream_gene_variant COAD-US 19 2987785 2987785 single base substitution T G exon_variant COAD-US 19 2987785 2987785 single base substitution T G missense_variant S208A 622T>G COAD-US 19 2987785 2987785 single base substitution T G missense_variant S85A 253T>G COAD-US 19 2987785 2987785 single base substitution T G upstream_gene_variant COAD-US 19 2989140 2989140 single base substitution G A downstream_gene_variant COAD-US 19 2989140 2989140 single base substitution G A exon_variant COAD-US 19 2989140 2989140 single base substitution G A synonymous_variant P151P 453G>A COAD-US 19 2989140 2989140 single base substitution G A synonymous_variant P274P 822G>A COAD-US 19 2989551 2989551 single base substitution C T downstream_gene_variant COAD-US 19 2989551 2989551 single base substitution C T exon_variant COAD-US 19 2989551 2989551 single base substitution C T missense_variant R215C 643C>T COAD-US 19 2989551 2989551 single base substitution C T missense_variant R338C 1012C>T COAD-US 19 2993570 2993570 single base substitution C G downstream_gene_variant COAD-US 19 2993570 2993570 single base substitution C G exon_variant COAD-US 19 2993570 2993570 single base substitution C G missense_variant F386L 1158C>G COAD-US 19 2993570 2993570 single base substitution C G missense_variant F509L 1527C>G COCA-CN 19 2980269 2980269 single base substitution G A 3_prime_UTR_variant COCA-CN 19 2980269 2980269 single base substitution G A intron_variant COCA-CN 19 2980269 2980269 single base substitution G A upstream_gene_variant COCA-CN 19 2994903 2994903 single base substitution T C downstream_gene_variant COCA-CN 19 2994903 2994903 single base substitution T C exon_variant COCA-CN 19 2994903 2994903 single base substitution T C synonymous_variant P417P 1251T>C COCA-CN 19 2994903 2994903 single base substitution T C synonymous_variant P540P 1620T>C COCA-CN 19 2994967 2994967 single base substitution G A downstream_gene_variant COCA-CN 19 2994967 2994967 single base substitution G A exon_variant COCA-CN 19 2994967 2994967 single base substitution G A missense_variant G439R 1315G>A COCA-CN 19 2994967 2994967 single base substitution G A missense_variant G562R 1684G>A COCA-CN 19 2995030 2995030 single base substitution G A 3_prime_UTR_variant COCA-CN 19 2995030 2995030 single base substitution G A downstream_gene_variant COCA-CN 19 2995030 2995030 single base substitution G A exon_variant ESAD-UK 19 2973234 2973234 single base substitution A G upstream_gene_variant ESAD-UK 19 2976037 2976037 single base substitution C T upstream_gene_variant ESAD-UK 19 2979272 2979272 single base substitution C T intron_variant ESAD-UK 19 2979272 2979272 single base substitution C T upstream_gene_variant ESAD-UK 19 2981074 2981074 single base substitution C T downstream_gene_variant ESAD-UK 19 2981074 2981074 single base substitution C T intron_variant ESAD-UK 19 2981074 2981074 single base substitution C T upstream_gene_variant ESAD-UK 19 2981245 2981245 single base substitution C G downstream_gene_variant ESAD-UK 19 2981245 2981245 single base substitution C G intron_variant ESAD-UK 19 2981245 2981245 single base substitution C G upstream_gene_variant ESAD-UK 19 2983804 2983804 single base substitution C T downstream_gene_variant ESAD-UK 19 2983804 2983804 single base substitution C T intron_variant ESAD-UK 19 2983804 2983804 single base substitution C T upstream_gene_variant ESAD-UK 19 2984070 2984070 single base substitution C T downstream_gene_variant ESAD-UK 19 2984070 2984070 single base substitution C T exon_variant ESAD-UK 19 2984070 2984070 single base substitution C T intron_variant ESAD-UK 19 2984070 2984070 single base substitution C T upstream_gene_variant ESAD-UK 19 2985986 2985986 single base substitution T C intron_variant ESAD-UK 19 2985986 2985986 single base substitution T C upstream_gene_variant ESAD-UK 19 2989869 2989869 single base substitution C T downstream_gene_variant ESAD-UK 19 2989869 2989869 single base substitution C T intron_variant ESAD-UK 19 2990860 2990860 single base substitution G A downstream_gene_variant ESAD-UK 19 2990860 2990860 single base substitution G A intron_variant ESAD-UK 19 2991051 2991051 single base substitution C T downstream_gene_variant ESAD-UK 19 2991051 2991051 single base substitution C T intron_variant ESAD-UK 19 2992317 2992317 single base substitution A G downstream_gene_variant ESAD-UK 19 2992317 2992317 single base substitution A G intron_variant ESAD-UK 19 2993124 2993124 single base substitution G A downstream_gene_variant ESAD-UK 19 2993124 2993124 single base substitution G A intron_variant ESAD-UK 19 2994071 2994071 single base substitution C T downstream_gene_variant ESAD-UK 19 2994071 2994071 single base substitution C T exon_variant ESAD-UK 19 2994071 2994071 single base substitution C T missense_variant P408L 1223C>T ESAD-UK 19 2994071 2994071 single base substitution C T missense_variant P531L 1592C>T ESAD-UK 19 2999131 2999131 single base substitution T G downstream_gene_variant ESAD-UK 19 2999370 2999370 single base substitution A C downstream_gene_variant GACA-CN 19 2997880 2997880 single base substitution T C downstream_gene_variant KIRC-US 19 2987728 2987728 single base substitution G A downstream_gene_variant KIRC-US 19 2987728 2987728 single base substitution G A exon_variant KIRC-US 19 2987728 2987728 single base substitution G A missense_variant E189K 565G>A KIRC-US 19 2987728 2987728 single base substitution G A missense_variant E66K 196G>A KIRC-US 19 2987728 2987728 single base substitution G A upstream_gene_variant LICA-FR 19 2982187 2982187 single base substitution G A downstream_gene_variant LICA-FR 19 2982187 2982187 single base substitution G A splice_region_variant LICA-FR 19 2982187 2982187 single base substitution G A upstream_gene_variant LICA-FR 19 2982794 2982794 deletion of <=200bp C - downstream_gene_variant LICA-FR 19 2982794 2982794 deletion of <=200bp C - intron_variant LICA-FR 19 2982794 2982794 deletion of <=200bp C - upstream_gene_variant LICA-FR 19 2991374 2991374 single base substitution G A downstream_gene_variant LICA-FR 19 2991374 2991374 single base substitution G A intron_variant LICA-FR 19 2993106 2993106 single base substitution G A downstream_gene_variant LICA-FR 19 2993106 2993106 single base substitution G A intron_variant LICA-FR 19 2994091 2994091 single base substitution G A downstream_gene_variant LICA-FR 19 2994091 2994091 single base substitution G A missense_variant E415K 1243G>A LICA-FR 19 2994091 2994091 single base substitution G A missense_variant E538K 1612G>A LICA-FR 19 2994091 2994091 single base substitution G A splice_region_variant LICA-FR 19 2994101 2994101 single base substitution G A downstream_gene_variant LICA-FR 19 2994101 2994101 single base substitution G A splice_region_variant LICA-FR 19 2999831 2999831 single base substitution G C downstream_gene_variant LIHC-US 19 2989558 2989558 single base substitution G A downstream_gene_variant LIHC-US 19 2989558 2989558 single base substitution G A exon_variant LIHC-US 19 2989558 2989558 single base substitution G A missense_variant C217Y 650G>A LIHC-US 19 2989558 2989558 single base substitution G A missense_variant C340Y 1019G>A LIHC-US 19 2991926 2991926 single base substitution C T downstream_gene_variant LIHC-US 19 2991926 2991926 single base substitution C T exon_variant LIHC-US 19 2991926 2991926 single base substitution C T missense_variant R321W 961C>T LIHC-US 19 2991926 2991926 single base substitution C T missense_variant R444W 1330C>T LINC-JP 19 2976870 2976870 single base substitution G A upstream_gene_variant LINC-JP 19 2984351 2984351 single base substitution G C downstream_gene_variant LINC-JP 19 2984351 2984351 single base substitution G C exon_variant LINC-JP 19 2984351 2984351 single base substitution G C intron_variant LINC-JP 19 2984351 2984351 single base substitution G C upstream_gene_variant LINC-JP 19 2988219 2988219 single base substitution C T downstream_gene_variant LINC-JP 19 2988219 2988219 single base substitution C T intron_variant LINC-JP 19 2988219 2988219 single base substitution C T upstream_gene_variant LINC-JP 19 2993943 2993943 single base substitution T G downstream_gene_variant LINC-JP 19 2993943 2993943 single base substitution T G intron_variant LINC-JP 19 2994685 2994685 single base substitution C A downstream_gene_variant LINC-JP 19 2994685 2994685 single base substitution C A intron_variant LINC-JP 19 2996161 2996161 single base substitution G C downstream_gene_variant LINC-JP 19 2998137 2998137 single base substitution T G downstream_gene_variant LIRI-JP 19 2974927 2974927 single base substitution C A upstream_gene_variant LIRI-JP 19 2983919 2983919 single base substitution G T downstream_gene_variant LIRI-JP 19 2983919 2983919 single base substitution G T exon_variant LIRI-JP 19 2983919 2983919 single base substitution G T intron_variant LIRI-JP 19 2983919 2983919 single base substitution G T upstream_gene_variant LIRI-JP 19 2984303 2984303 single base substitution C A downstream_gene_variant LIRI-JP 19 2984303 2984303 single base substitution C A exon_variant LIRI-JP 19 2984303 2984303 single base substitution C A intron_variant LIRI-JP 19 2984303 2984303 single base substitution C A upstream_gene_variant LIRI-JP 19 2988468 2988468 single base substitution T C downstream_gene_variant LIRI-JP 19 2988468 2988468 single base substitution T C intron_variant LIRI-JP 19 2988468 2988468 single base substitution T C upstream_gene_variant LIRI-JP 19 2991982 2991982 single base substitution G A downstream_gene_variant LIRI-JP 19 2991982 2991982 single base substitution G A splice_region_variant LUSC-KR 19 2979828 2979828 single base substitution C A intron_variant LUSC-KR 19 2979828 2979828 single base substitution C A upstream_gene_variant LUSC-KR 19 2980269 2980269 single base substitution G A 3_prime_UTR_variant LUSC-KR 19 2980269 2980269 single base substitution G A intron_variant LUSC-KR 19 2980269 2980269 single base substitution G A upstream_gene_variant LUSC-KR 19 2984704 2984704 single base substitution G A downstream_gene_variant LUSC-KR 19 2984704 2984704 single base substitution G A intron_variant LUSC-KR 19 2984704 2984704 single base substitution G A upstream_gene_variant LUSC-KR 19 2986444 2986444 single base substitution G T intron_variant LUSC-KR 19 2986444 2986444 single base substitution G T upstream_gene_variant LUSC-KR 19 2994874 2994874 single base substitution C T downstream_gene_variant LUSC-KR 19 2994874 2994874 single base substitution C T intron_variant LUSC-KR 19 2995121 2995121 single base substitution C G 3_prime_UTR_variant LUSC-KR 19 2995121 2995121 single base substitution C G downstream_gene_variant LUSC-KR 19 2995121 2995121 single base substitution C G exon_variant LUSC-US 19 2989088 2989088 single base substitution C T downstream_gene_variant LUSC-US 19 2989088 2989088 single base substitution C T exon_variant LUSC-US 19 2989088 2989088 single base substitution C T missense_variant A134V 401C>T LUSC-US 19 2989088 2989088 single base substitution C T missense_variant A257V 770C>T MALY-DE 19 2976861 2976861 single base substitution C T upstream_gene_variant MALY-DE 19 2996203 2996203 single base substitution A C downstream_gene_variant MELA-AU 19 2972701 2972701 single base substitution G T upstream_gene_variant MELA-AU 19 2972758 2972758 single base substitution G A upstream_gene_variant MELA-AU 19 2974297 2974297 single base substitution T G upstream_gene_variant MELA-AU 19 2975686 2975686 single base substitution C T upstream_gene_variant MELA-AU 19 2976723 2976723 single base substitution C T upstream_gene_variant MELA-AU 19 2977320 2977320 single base substitution G A upstream_gene_variant MELA-AU 19 2977475 2977475 single base substitution G A 5_prime_UTR_variant MELA-AU 19 2977475 2977475 single base substitution G A upstream_gene_variant MELA-AU 19 2977502 2977503 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 19 2977502 2977503 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 2977512 2977512 single base substitution G A 5_prime_UTR_variant MELA-AU 19 2977512 2977512 single base substitution G A upstream_gene_variant MELA-AU 19 2977902 2977902 single base substitution C T intron_variant MELA-AU 19 2977906 2977906 single base substitution C T intron_variant MELA-AU 19 2977959 2977959 single base substitution G A intron_variant MELA-AU 19 2978438 2978438 single base substitution C T intron_variant MELA-AU 19 2979348 2979348 single base substitution G A intron_variant MELA-AU 19 2979348 2979348 single base substitution G A upstream_gene_variant MELA-AU 19 2980218 2980218 single base substitution G A 3_prime_UTR_variant MELA-AU 19 2980218 2980218 single base substitution G A intron_variant MELA-AU 19 2980218 2980218 single base substitution G A upstream_gene_variant MELA-AU 19 2980403 2980403 single base substitution C T 3_prime_UTR_variant MELA-AU 19 2980403 2980403 single base substitution C T intron_variant MELA-AU 19 2980403 2980403 single base substitution C T upstream_gene_variant MELA-AU 19 2980586 2980586 single base substitution C T downstream_gene_variant MELA-AU 19 2980586 2980586 single base substitution C T intron_variant MELA-AU 19 2980586 2980586 single base substitution C T upstream_gene_variant MELA-AU 19 2980629 2980629 single base substitution G A downstream_gene_variant MELA-AU 19 2980629 2980629 single base substitution G A intron_variant MELA-AU 19 2980629 2980629 single base substitution G A upstream_gene_variant MELA-AU 19 2980650 2980650 single base substitution C T downstream_gene_variant MELA-AU 19 2980650 2980650 single base substitution C T intron_variant MELA-AU 19 2980650 2980650 single base substitution C T upstream_gene_variant MELA-AU 19 2981076 2981076 single base substitution G A downstream_gene_variant MELA-AU 19 2981076 2981076 single base substitution G A intron_variant MELA-AU 19 2981076 2981076 single base substitution G A upstream_gene_variant MELA-AU 19 2981687 2981687 single base substitution C T downstream_gene_variant MELA-AU 19 2981687 2981687 single base substitution C T intron_variant MELA-AU 19 2981687 2981687 single base substitution C T upstream_gene_variant MELA-AU 19 2981892 2981892 single base substitution C T downstream_gene_variant MELA-AU 19 2981892 2981892 single base substitution C T intron_variant MELA-AU 19 2981892 2981892 single base substitution C T upstream_gene_variant MELA-AU 19 2982136 2982136 single base substitution C T downstream_gene_variant MELA-AU 19 2982136 2982136 single base substitution C T intron_variant MELA-AU 19 2982136 2982136 single base substitution C T upstream_gene_variant MELA-AU 19 2982443 2982443 single base substitution G A downstream_gene_variant MELA-AU 19 2982443 2982443 single base substitution G A intron_variant MELA-AU 19 2982443 2982443 single base substitution G A upstream_gene_variant MELA-AU 19 2982704 2982704 single base substitution C T downstream_gene_variant MELA-AU 19 2982704 2982704 single base substitution C T intron_variant MELA-AU 19 2982704 2982704 single base substitution C T upstream_gene_variant MELA-AU 19 2983352 2983352 single base substitution G A downstream_gene_variant MELA-AU 19 2983352 2983352 single base substitution G A intron_variant MELA-AU 19 2983352 2983352 single base substitution G A upstream_gene_variant MELA-AU 19 2983626 2983626 single base substitution G A downstream_gene_variant MELA-AU 19 2983626 2983626 single base substitution G A intron_variant MELA-AU 19 2983626 2983626 single base substitution G A upstream_gene_variant MELA-AU 19 2983777 2983777 single base substitution G A downstream_gene_variant MELA-AU 19 2983777 2983777 single base substitution G A intron_variant MELA-AU 19 2983777 2983777 single base substitution G A upstream_gene_variant MELA-AU 19 2984368 2984368 single base substitution G A downstream_gene_variant MELA-AU 19 2984368 2984368 single base substitution G A exon_variant MELA-AU 19 2984368 2984368 single base substitution G A intron_variant MELA-AU 19 2984368 2984368 single base substitution G A upstream_gene_variant MELA-AU 19 2985086 2985086 single base substitution T G downstream_gene_variant MELA-AU 19 2985086 2985086 single base substitution T G intron_variant MELA-AU 19 2985086 2985086 single base substitution T G upstream_gene_variant MELA-AU 19 2985847 2985847 single base substitution G A intron_variant MELA-AU 19 2985847 2985847 single base substitution G A upstream_gene_variant MELA-AU 19 2985899 2985899 single base substitution C T intron_variant MELA-AU 19 2985899 2985899 single base substitution C T upstream_gene_variant MELA-AU 19 2986160 2986160 single base substitution C T intron_variant MELA-AU 19 2986160 2986160 single base substitution C T upstream_gene_variant MELA-AU 19 2986203 2986203 single base substitution G A intron_variant MELA-AU 19 2986203 2986203 single base substitution G A upstream_gene_variant MELA-AU 19 2986538 2986538 single base substitution C T intron_variant MELA-AU 19 2986538 2986538 single base substitution C T upstream_gene_variant MELA-AU 19 2986567 2986567 single base substitution C T intron_variant MELA-AU 19 2986567 2986567 single base substitution C T upstream_gene_variant MELA-AU 19 2986831 2986831 single base substitution G A 5_prime_UTR_variant MELA-AU 19 2986831 2986831 single base substitution G A exon_variant MELA-AU 19 2986831 2986831 single base substitution G A missense_variant G76E 227G>A MELA-AU 19 2986831 2986831 single base substitution G A upstream_gene_variant MELA-AU 19 2987099 2987099 single base substitution C T exon_variant MELA-AU 19 2987099 2987099 single base substitution C T missense_variant P12L 35C>T MELA-AU 19 2987099 2987099 single base substitution C T missense_variant P135L 404C>T MELA-AU 19 2987099 2987099 single base substitution C T upstream_gene_variant MELA-AU 19 2987189 2987189 single base substitution G A downstream_gene_variant MELA-AU 19 2987189 2987189 single base substitution G A exon_variant MELA-AU 19 2987189 2987189 single base substitution G A missense_variant R165Q 494G>A MELA-AU 19 2987189 2987189 single base substitution G A missense_variant R42Q 125G>A MELA-AU 19 2987189 2987189 single base substitution G A upstream_gene_variant MELA-AU 19 2987190 2987190 single base substitution G A downstream_gene_variant MELA-AU 19 2987190 2987190 single base substitution G A exon_variant MELA-AU 19 2987190 2987190 single base substitution G A synonymous_variant R165R 495G>A MELA-AU 19 2987190 2987190 single base substitution G A synonymous_variant R42R 126G>A MELA-AU 19 2987190 2987190 single base substitution G A upstream_gene_variant MELA-AU 19 2987214 2987214 single base substitution G A downstream_gene_variant MELA-AU 19 2987214 2987214 single base substitution G A exon_variant MELA-AU 19 2987214 2987214 single base substitution G A synonymous_variant E173E 519G>A MELA-AU 19 2987214 2987214 single base substitution G A synonymous_variant E50E 150G>A MELA-AU 19 2987214 2987214 single base substitution G A upstream_gene_variant MELA-AU 19 2987489 2987489 single base substitution G C downstream_gene_variant MELA-AU 19 2987489 2987489 single base substitution G C exon_variant MELA-AU 19 2987489 2987489 single base substitution G C intron_variant MELA-AU 19 2987489 2987489 single base substitution G C upstream_gene_variant MELA-AU 19 2987493 2987493 single base substitution C T downstream_gene_variant MELA-AU 19 2987493 2987493 single base substitution C T exon_variant MELA-AU 19 2987493 2987493 single base substitution C T intron_variant MELA-AU 19 2987493 2987493 single base substitution C T upstream_gene_variant MELA-AU 19 2987563 2987563 single base substitution C T downstream_gene_variant MELA-AU 19 2987563 2987563 single base substitution C T exon_variant MELA-AU 19 2987563 2987563 single base substitution C T intron_variant MELA-AU 19 2987563 2987563 single base substitution C T upstream_gene_variant MELA-AU 19 2987655 2987655 single base substitution G A downstream_gene_variant MELA-AU 19 2987655 2987655 single base substitution G A exon_variant MELA-AU 19 2987655 2987655 single base substitution G A intron_variant MELA-AU 19 2987655 2987655 single base substitution G A upstream_gene_variant MELA-AU 19 2988092 2988092 single base substitution C T downstream_gene_variant MELA-AU 19 2988092 2988092 single base substitution C T exon_variant MELA-AU 19 2988092 2988092 single base substitution C T missense_variant P113S 337C>T MELA-AU 19 2988092 2988092 single base substitution C T missense_variant P236S 706C>T MELA-AU 19 2988092 2988092 single base substitution C T upstream_gene_variant MELA-AU 19 2988248 2988248 single base substitution C T downstream_gene_variant MELA-AU 19 2988248 2988248 single base substitution C T intron_variant MELA-AU 19 2988248 2988248 single base substitution C T upstream_gene_variant MELA-AU 19 2988490 2988490 single base substitution G A downstream_gene_variant MELA-AU 19 2988490 2988490 single base substitution G A intron_variant MELA-AU 19 2988490 2988490 single base substitution G A upstream_gene_variant MELA-AU 19 2988714 2988714 single base substitution T C downstream_gene_variant MELA-AU 19 2988714 2988714 single base substitution T C intron_variant MELA-AU 19 2988714 2988714 single base substitution T C upstream_gene_variant MELA-AU 19 2988820 2988820 single base substitution C T downstream_gene_variant MELA-AU 19 2988820 2988820 single base substitution C T intron_variant MELA-AU 19 2988820 2988820 single base substitution C T upstream_gene_variant MELA-AU 19 2989048 2989048 single base substitution C T downstream_gene_variant MELA-AU 19 2989048 2989048 single base substitution C T exon_variant MELA-AU 19 2989048 2989048 single base substitution C T intron_variant MELA-AU 19 2989174 2989174 single base substitution G A downstream_gene_variant MELA-AU 19 2989174 2989174 single base substitution G A exon_variant MELA-AU 19 2989174 2989174 single base substitution G A missense_variant G163R 487G>A MELA-AU 19 2989174 2989174 single base substitution G A missense_variant G286R 856G>A MELA-AU 19 2989642 2989643 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 2989642 2989643 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 19 2989642 2989643 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S245F 734CC>TT MELA-AU 19 2989642 2989643 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S368F 1103CC>TT MELA-AU 19 2989807 2989807 single base substitution G A downstream_gene_variant MELA-AU 19 2989807 2989807 single base substitution G A intron_variant MELA-AU 19 2989820 2989820 single base substitution C T downstream_gene_variant MELA-AU 19 2989820 2989820 single base substitution C T intron_variant MELA-AU 19 2989981 2989981 single base substitution G A downstream_gene_variant MELA-AU 19 2989981 2989981 single base substitution G A intron_variant MELA-AU 19 2990058 2990058 single base substitution G A downstream_gene_variant MELA-AU 19 2990058 2990058 single base substitution G A intron_variant MELA-AU 19 2990294 2990294 single base substitution A T downstream_gene_variant MELA-AU 19 2990294 2990294 single base substitution A T intron_variant MELA-AU 19 2990682 2990682 single base substitution A C downstream_gene_variant MELA-AU 19 2990682 2990682 single base substitution A C intron_variant MELA-AU 19 2991265 2991265 single base substitution G A downstream_gene_variant MELA-AU 19 2991265 2991265 single base substitution G A intron_variant MELA-AU 19 2991271 2991271 single base substitution C T downstream_gene_variant MELA-AU 19 2991271 2991271 single base substitution C T intron_variant MELA-AU 19 2991591 2991591 single base substitution G A downstream_gene_variant MELA-AU 19 2991591 2991591 single base substitution G A intron_variant MELA-AU 19 2991857 2991857 single base substitution C T downstream_gene_variant MELA-AU 19 2991857 2991857 single base substitution C T exon_variant MELA-AU 19 2991857 2991857 single base substitution C T missense_variant P298S 892C>T MELA-AU 19 2991857 2991857 single base substitution C T missense_variant P421S 1261C>T MELA-AU 19 2992424 2992424 single base substitution C T downstream_gene_variant MELA-AU 19 2992424 2992424 single base substitution C T intron_variant MELA-AU 19 2993283 2993283 single base substitution C T downstream_gene_variant MELA-AU 19 2993283 2993283 single base substitution C T intron_variant MELA-AU 19 2994190 2994190 single base substitution G A downstream_gene_variant MELA-AU 19 2994190 2994190 single base substitution G A intron_variant MELA-AU 19 2994266 2994266 single base substitution G A downstream_gene_variant MELA-AU 19 2994266 2994266 single base substitution G A intron_variant MELA-AU 19 2994668 2994668 insertion of <=200bp - G downstream_gene_variant MELA-AU 19 2994668 2994668 insertion of <=200bp - G intron_variant MELA-AU 19 2995008 2995008 single base substitution C T 3_prime_UTR_variant MELA-AU 19 2995008 2995008 single base substitution C T downstream_gene_variant MELA-AU 19 2995008 2995008 single base substitution C T exon_variant MELA-AU 19 2995060 2995060 insertion of <=200bp - CT 3_prime_UTR_variant MELA-AU 19 2995060 2995060 insertion of <=200bp - CT downstream_gene_variant MELA-AU 19 2995060 2995060 insertion of <=200bp - CT exon_variant MELA-AU 19 2995256 2995256 single base substitution G A downstream_gene_variant MELA-AU 19 2995879 2995879 single base substitution T A downstream_gene_variant MELA-AU 19 2996213 2996213 single base substitution T G downstream_gene_variant MELA-AU 19 2996215 2996215 single base substitution C T downstream_gene_variant MELA-AU 19 2996242 2996242 single base substitution G A downstream_gene_variant MELA-AU 19 2996243 2996243 single base substitution G A downstream_gene_variant MELA-AU 19 2996275 2996275 single base substitution G A downstream_gene_variant MELA-AU 19 2996276 2996276 single base substitution G A downstream_gene_variant MELA-AU 19 2996406 2996406 single base substitution C T downstream_gene_variant MELA-AU 19 2996564 2996564 single base substitution G A downstream_gene_variant MELA-AU 19 2997093 2997093 single base substitution G A downstream_gene_variant MELA-AU 19 2997279 2997279 single base substitution C T downstream_gene_variant MELA-AU 19 2997439 2997439 single base substitution C T downstream_gene_variant MELA-AU 19 2997829 2997829 single base substitution G A downstream_gene_variant MELA-AU 19 2997886 2997886 single base substitution G A downstream_gene_variant MELA-AU 19 2998471 2998471 single base substitution T C downstream_gene_variant MELA-AU 19 2998898 2998898 single base substitution G A downstream_gene_variant MELA-AU 19 2999072 2999072 single base substitution G A downstream_gene_variant MELA-AU 19 2999508 2999508 single base substitution G A downstream_gene_variant MELA-AU 19 2999617 2999617 single base substitution C T downstream_gene_variant MELA-AU 19 2999791 2999791 single base substitution G A downstream_gene_variant MELA-AU 19 2999834 2999834 single base substitution C T downstream_gene_variant MELA-AU 19 2999873 2999873 single base substitution A T downstream_gene_variant MELA-AU 19 3000126 3000126 single base substitution G T downstream_gene_variant MELA-AU 19 3000164 3000164 single base substitution G A downstream_gene_variant ORCA-IN 19 2972551 2972551 single base substitution G T upstream_gene_variant ORCA-IN 19 2974173 2974173 single base substitution G A upstream_gene_variant ORCA-IN 19 2978564 2978564 single base substitution G A intron_variant ORCA-IN 19 2987898 2987898 single base substitution C T downstream_gene_variant ORCA-IN 19 2987898 2987898 single base substitution C T exon_variant ORCA-IN 19 2987898 2987898 single base substitution C T missense_variant P210S 628C>T ORCA-IN 19 2987898 2987898 single base substitution C T missense_variant P87S 259C>T ORCA-IN 19 2987898 2987898 single base substitution C T splice_region_variant ORCA-IN 19 2987898 2987898 single base substitution C T upstream_gene_variant ORCA-IN 19 2993131 2993131 single base substitution C A downstream_gene_variant ORCA-IN 19 2993131 2993131 single base substitution C A intron_variant OV-US 19 2991957 2991957 single base substitution C A downstream_gene_variant OV-US 19 2991957 2991957 single base substitution C A exon_variant OV-US 19 2991957 2991957 single base substitution C A missense_variant P331H 992C>A OV-US 19 2991957 2991957 single base substitution C A missense_variant P454H 1361C>A PACA-AU 19 2988110 2988110 single base substitution C T downstream_gene_variant PACA-AU 19 2988110 2988110 single base substitution C T exon_variant PACA-AU 19 2988110 2988110 single base substitution C T missense_variant R119W 355C>T PACA-AU 19 2988110 2988110 single base substitution C T missense_variant R242W 724C>T PACA-AU 19 2988110 2988110 single base substitution C T upstream_gene_variant PACA-AU 19 2988317 2988317 single base substitution G A downstream_gene_variant PACA-AU 19 2988317 2988317 single base substitution G A intron_variant PACA-AU 19 2988317 2988317 single base substitution G A upstream_gene_variant PACA-AU 19 2988614 2988614 single base substitution G A downstream_gene_variant PACA-AU 19 2988614 2988614 single base substitution G A intron_variant PACA-AU 19 2988614 2988614 single base substitution G A upstream_gene_variant PACA-AU 19 2990682 2990682 single base substitution A C downstream_gene_variant PACA-AU 19 2990682 2990682 single base substitution A C intron_variant PACA-AU 19 2992037 2992037 deletion of <=200bp A - downstream_gene_variant PACA-AU 19 2992037 2992037 deletion of <=200bp A - intron_variant PACA-AU 19 2995733 2995733 single base substitution A T downstream_gene_variant PACA-AU 19 2995975 2995975 single base substitution G A downstream_gene_variant PACA-AU 19 2997676 2997676 single base substitution C A downstream_gene_variant PACA-AU 19 2999137 2999137 single base substitution A G downstream_gene_variant PACA-CA 19 2973724 2973724 single base substitution T G upstream_gene_variant PACA-CA 19 2976172 2976172 single base substitution G A upstream_gene_variant PACA-CA 19 2976350 2976350 single base substitution T C upstream_gene_variant PACA-CA 19 2977284 2977284 single base substitution C A upstream_gene_variant PACA-CA 19 2977407 2977407 single base substitution C T upstream_gene_variant PACA-CA 19 2978881 2978881 single base substitution A G intron_variant PACA-CA 19 2979821 2979821 single base substitution A G intron_variant PACA-CA 19 2979821 2979821 single base substitution A G upstream_gene_variant PACA-CA 19 2985469 2985469 single base substitution G A intron_variant PACA-CA 19 2985469 2985469 single base substitution G A upstream_gene_variant PACA-CA 19 2988326 2988326 single base substitution G T downstream_gene_variant PACA-CA 19 2988326 2988326 single base substitution G T intron_variant PACA-CA 19 2988326 2988326 single base substitution G T upstream_gene_variant PACA-CA 19 2989502 2989502 single base substitution C T downstream_gene_variant PACA-CA 19 2989502 2989502 single base substitution C T intron_variant PACA-CA 19 2991428 2991428 single base substitution A G downstream_gene_variant PACA-CA 19 2991428 2991428 single base substitution A G intron_variant PACA-CA 19 2994476 2994476 single base substitution T C downstream_gene_variant PACA-CA 19 2994476 2994476 single base substitution T C intron_variant PACA-CA 19 2999187 2999187 single base substitution G A downstream_gene_variant PAEN-AU 19 2973158 2973158 single base substitution T G upstream_gene_variant PAEN-AU 19 2995733 2995733 single base substitution A G downstream_gene_variant PBCA-DE 19 2976290 2976290 single base substitution A G upstream_gene_variant PBCA-DE 19 2990635 2990635 insertion of <=200bp - ATAC downstream_gene_variant PBCA-DE 19 2990635 2990635 insertion of <=200bp - ATAC intron_variant PBCA-DE 19 2994238 2994238 single base substitution C G downstream_gene_variant PBCA-DE 19 2994238 2994238 single base substitution C G intron_variant PBCA-DE 19 2995052 2995052 single base substitution C T 3_prime_UTR_variant PBCA-DE 19 2995052 2995052 single base substitution C T downstream_gene_variant PBCA-DE 19 2995052 2995052 single base substitution C T exon_variant PRAD-CA 19 2991395 2991395 single base substitution C T downstream_gene_variant PRAD-CA 19 2991395 2991395 single base substitution C T intron_variant PRAD-UK 19 2973297 2973297 single base substitution G A upstream_gene_variant PRAD-UK 19 2975867 2975867 single base substitution G A upstream_gene_variant PRAD-UK 19 2985945 2985945 single base substitution C T intron_variant PRAD-UK 19 2985945 2985945 single base substitution C T upstream_gene_variant PRAD-UK 19 2997063 2997063 single base substitution A T downstream_gene_variant PRAD-UK 19 2997942 2997942 single base substitution C T downstream_gene_variant PRAD-UK 19 2999208 2999208 single base substitution A G downstream_gene_variant READ-US 19 2980147 2980147 single base substitution A G 5_prime_UTR_variant READ-US 19 2980147 2980147 single base substitution A G exon_variant READ-US 19 2980147 2980147 single base substitution A G missense_variant Q34R 101A>G READ-US 19 2980147 2980147 single base substitution A G upstream_gene_variant READ-US 19 2994090 2994090 single base substitution C A downstream_gene_variant READ-US 19 2994090 2994090 single base substitution C A exon_variant READ-US 19 2994090 2994090 single base substitution C A missense_variant F414L 1242C>A READ-US 19 2994090 2994090 single base substitution C A missense_variant F537L 1611C>A RECA-EU 19 2975417 2975417 single base substitution G T upstream_gene_variant RECA-EU 19 2988001 2988001 single base substitution A T downstream_gene_variant RECA-EU 19 2988001 2988001 single base substitution A T exon_variant RECA-EU 19 2988001 2988001 single base substitution A T intron_variant RECA-EU 19 2988001 2988001 single base substitution A T upstream_gene_variant RECA-EU 19 2989017 2989017 single base substitution G T downstream_gene_variant RECA-EU 19 2989017 2989017 single base substitution G T exon_variant RECA-EU 19 2989017 2989017 single base substitution G T intron_variant RECA-EU 19 2989353 2989353 single base substitution A T downstream_gene_variant RECA-EU 19 2989353 2989353 single base substitution A T intron_variant RECA-EU 19 2994256 2994256 single base substitution T A downstream_gene_variant RECA-EU 19 2994256 2994256 single base substitution T A intron_variant RECA-EU 19 2997876 2997876 single base substitution C A downstream_gene_variant SKCA-BR 19 2972615 2972615 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 19 2972807 2972807 single base substitution A G upstream_gene_variant SKCA-BR 19 2977339 2977339 single base substitution G A upstream_gene_variant SKCA-BR 19 2979579 2979579 single base substitution C T intron_variant SKCA-BR 19 2979579 2979579 single base substitution C T upstream_gene_variant SKCA-BR 19 2979962 2979962 insertion of <=200bp - CAAA intron_variant SKCA-BR 19 2979962 2979962 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 19 2980090 2980090 single base substitution C A intron_variant SKCA-BR 19 2980090 2980090 single base substitution C A splice_region_variant SKCA-BR 19 2980090 2980090 single base substitution C A upstream_gene_variant SKCA-BR 19 2982431 2982431 single base substitution G A downstream_gene_variant SKCA-BR 19 2982431 2982431 single base substitution G A intron_variant SKCA-BR 19 2982431 2982431 single base substitution G A upstream_gene_variant SKCA-BR 19 2982450 2982450 single base substitution T C downstream_gene_variant SKCA-BR 19 2982450 2982450 single base substitution T C intron_variant SKCA-BR 19 2982450 2982450 single base substitution T C upstream_gene_variant SKCA-BR 19 2983355 2983355 single base substitution A G downstream_gene_variant SKCA-BR 19 2983355 2983355 single base substitution A G intron_variant SKCA-BR 19 2983355 2983355 single base substitution A G upstream_gene_variant SKCA-BR 19 2983586 2983586 single base substitution G A downstream_gene_variant SKCA-BR 19 2983586 2983586 single base substitution G A intron_variant SKCA-BR 19 2983586 2983586 single base substitution G A upstream_gene_variant SKCA-BR 19 2984305 2984305 single base substitution T G downstream_gene_variant SKCA-BR 19 2984305 2984305 single base substitution T G exon_variant SKCA-BR 19 2984305 2984305 single base substitution T G intron_variant SKCA-BR 19 2984305 2984305 single base substitution T G upstream_gene_variant SKCA-BR 19 2984567 2984567 single base substitution G C downstream_gene_variant SKCA-BR 19 2984567 2984567 single base substitution G C intron_variant SKCA-BR 19 2984567 2984567 single base substitution G C upstream_gene_variant SKCA-BR 19 2986968 2986968 single base substitution C T intron_variant SKCA-BR 19 2986968 2986968 single base substitution C T upstream_gene_variant SKCA-BR 19 2987435 2987435 single base substitution A C downstream_gene_variant SKCA-BR 19 2987435 2987435 single base substitution A C exon_variant SKCA-BR 19 2987435 2987435 single base substitution A C intron_variant SKCA-BR 19 2987435 2987435 single base substitution A C splice_region_variant SKCA-BR 19 2987435 2987435 single base substitution A C upstream_gene_variant SKCA-BR 19 2988075 2988075 single base substitution T C downstream_gene_variant SKCA-BR 19 2988075 2988075 single base substitution T C exon_variant SKCA-BR 19 2988075 2988075 single base substitution T C intron_variant SKCA-BR 19 2988075 2988075 single base substitution T C upstream_gene_variant SKCA-BR 19 2988977 2988977 single base substitution C T downstream_gene_variant SKCA-BR 19 2988977 2988977 single base substitution C T exon_variant SKCA-BR 19 2988977 2988977 single base substitution C T intron_variant SKCA-BR 19 2989711 2989711 single base substitution C T downstream_gene_variant SKCA-BR 19 2989711 2989711 single base substitution C T exon_variant SKCA-BR 19 2989711 2989711 single base substitution C T missense_variant A268V 803C>T SKCA-BR 19 2989711 2989711 single base substitution C T missense_variant A391V 1172C>T SKCA-BR 19 2990654 2990654 single base substitution C A downstream_gene_variant SKCA-BR 19 2990654 2990654 single base substitution C A intron_variant SKCA-BR 19 2990670 2990670 single base substitution A T downstream_gene_variant SKCA-BR 19 2990670 2990670 single base substitution A T intron_variant SKCA-BR 19 2991374 2991374 insertion of <=200bp - GTATATA downstream_gene_variant SKCA-BR 19 2991374 2991374 insertion of <=200bp - GTATATA intron_variant SKCA-BR 19 2991393 2991393 insertion of <=200bp - TATATAC downstream_gene_variant SKCA-BR 19 2991393 2991393 insertion of <=200bp - TATATAC intron_variant SKCA-BR 19 2993743 2993743 single base substitution A G downstream_gene_variant SKCA-BR 19 2993743 2993743 single base substitution A G intron_variant SKCA-BR 19 2993941 2993941 single base substitution G A downstream_gene_variant SKCA-BR 19 2993941 2993941 single base substitution G A intron_variant SKCA-BR 19 2994079 2994079 single base substitution A G downstream_gene_variant SKCA-BR 19 2994079 2994079 single base substitution A G exon_variant SKCA-BR 19 2994079 2994079 single base substitution A G missense_variant T411A 1231A>G SKCA-BR 19 2994079 2994079 single base substitution A G missense_variant T534A 1600A>G SKCA-BR 19 2994602 2994602 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 19 2994602 2994602 insertion of <=200bp - TA intron_variant SKCA-BR 19 2995073 2995073 single base substitution G A 3_prime_UTR_variant SKCA-BR 19 2995073 2995073 single base substitution G A downstream_gene_variant SKCA-BR 19 2995073 2995073 single base substitution G A exon_variant SKCA-BR 19 2995310 2995311 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 19 2997361 2997361 single base substitution G A downstream_gene_variant SKCA-BR 19 2997626 2997626 single base substitution G A downstream_gene_variant SKCA-BR 19 2998235 2998247 deletion of <=200bp ATGTGTGTGTGTG - downstream_gene_variant SKCA-BR 19 2998273 2998273 single base substitution G A downstream_gene_variant SKCA-BR 19 2998880 2998880 single base substitution G A downstream_gene_variant SKCA-BR 19 2999500 2999500 single base substitution T G downstream_gene_variant SKCA-BR 19 2999724 2999724 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 19 2999735 2999738 deletion of <=200bp AAAG - downstream_gene_variant SKCA-BR 19 2999738 2999738 single base substitution G A downstream_gene_variant SKCM-US 19 2987089 2987089 single base substitution C T exon_variant SKCM-US 19 2987089 2987089 single base substitution C T missense_variant L132F 394C>T SKCM-US 19 2987089 2987089 single base substitution C T missense_variant L9F 25C>T SKCM-US 19 2987089 2987089 single base substitution C T upstream_gene_variant SKCM-US 19 2987153 2987153 single base substitution G A exon_variant SKCM-US 19 2987153 2987153 single base substitution G A stop_gained W153* 458G>A SKCM-US 19 2987153 2987153 single base substitution G A stop_gained W30* 89G>A SKCM-US 19 2987153 2987153 single base substitution G A upstream_gene_variant SKCM-US 19 2987189 2987189 single base substitution G A downstream_gene_variant SKCM-US 19 2987189 2987189 single base substitution G A exon_variant SKCM-US 19 2987189 2987189 single base substitution G A missense_variant R165Q 494G>A SKCM-US 19 2987189 2987189 single base substitution G A missense_variant R42Q 125G>A SKCM-US 19 2987189 2987189 single base substitution G A upstream_gene_variant SKCM-US 19 2987234 2987234 single base substitution G A downstream_gene_variant SKCM-US 19 2987234 2987234 single base substitution G A exon_variant SKCM-US 19 2987234 2987234 single base substitution G A missense_variant R180K 539G>A SKCM-US 19 2987234 2987234 single base substitution G A missense_variant R57K 170G>A SKCM-US 19 2987234 2987234 single base substitution G A splice_region_variant SKCM-US 19 2987234 2987234 single base substitution G A upstream_gene_variant SKCM-US 19 2987367 2987367 single base substitution C T downstream_gene_variant SKCM-US 19 2987367 2987367 single base substitution C T exon_variant SKCM-US 19 2987367 2987367 single base substitution C T synonymous_variant G185G 555C>T SKCM-US 19 2987367 2987367 single base substitution C T synonymous_variant G62G 186C>T SKCM-US 19 2987367 2987367 single base substitution C T upstream_gene_variant SKCM-US 19 2989206 2989206 single base substitution C T downstream_gene_variant SKCM-US 19 2989206 2989206 single base substitution C T exon_variant SKCM-US 19 2989206 2989206 single base substitution C T synonymous_variant S173S 519C>T SKCM-US 19 2989206 2989206 single base substitution C T synonymous_variant S296S 888C>T SKCM-US 19 2989288 2989288 single base substitution C T downstream_gene_variant SKCM-US 19 2989288 2989288 single base substitution C T exon_variant SKCM-US 19 2989288 2989288 single base substitution C T missense_variant P201S 601C>T SKCM-US 19 2989288 2989288 single base substitution C T missense_variant P324S 970C>T SKCM-US 19 2989579 2989579 single base substitution G A downstream_gene_variant SKCM-US 19 2989579 2989579 single base substitution G A exon_variant SKCM-US 19 2989579 2989579 single base substitution G A missense_variant R224K 671G>A SKCM-US 19 2989579 2989579 single base substitution G A missense_variant R347K 1040G>A SKCM-US 19 2989603 2989603 single base substitution A G downstream_gene_variant SKCM-US 19 2989603 2989603 single base substitution A G exon_variant SKCM-US 19 2989603 2989603 single base substitution A G missense_variant N232S 695A>G SKCM-US 19 2989603 2989603 single base substitution A G missense_variant N355S 1064A>G SKCM-US 19 2991877 2991877 single base substitution C T downstream_gene_variant SKCM-US 19 2991877 2991877 single base substitution C T exon_variant SKCM-US 19 2991877 2991877 single base substitution C T synonymous_variant I304I 912C>T SKCM-US 19 2991877 2991877 single base substitution C T synonymous_variant I427I 1281C>T SKCM-US 19 2991913 2991913 single base substitution G T downstream_gene_variant SKCM-US 19 2991913 2991913 single base substitution G T exon_variant SKCM-US 19 2991913 2991913 single base substitution G T synonymous_variant P316P 948G>T SKCM-US 19 2991913 2991913 single base substitution G T synonymous_variant P439P 1317G>T SKCM-US 19 2991957 2991957 single base substitution C T downstream_gene_variant SKCM-US 19 2991957 2991957 single base substitution C T exon_variant SKCM-US 19 2991957 2991957 single base substitution C T missense_variant P331L 992C>T SKCM-US 19 2991957 2991957 single base substitution C T missense_variant P454L 1361C>T SKCM-US 19 2993568 2993568 single base substitution T C downstream_gene_variant SKCM-US 19 2993568 2993568 single base substitution T C exon_variant SKCM-US 19 2993568 2993568 single base substitution T C missense_variant F386L 1156T>C SKCM-US 19 2993568 2993568 single base substitution T C missense_variant F509L 1525T>C SKCM-US 19 2994037 2994037 single base substitution G A downstream_gene_variant SKCM-US 19 2994037 2994037 single base substitution G A exon_variant SKCM-US 19 2994037 2994037 single base substitution G A missense_variant G397R 1189G>A SKCM-US 19 2994037 2994037 single base substitution G A missense_variant G520R 1558G>A STAD-US 19 2987969 2987969 single base substitution C T downstream_gene_variant STAD-US 19 2987969 2987969 single base substitution C T exon_variant STAD-US 19 2987969 2987969 single base substitution C T synonymous_variant V110V 330C>T STAD-US 19 2987969 2987969 single base substitution C T synonymous_variant V233V 699C>T STAD-US 19 2987969 2987969 single base substitution C T upstream_gene_variant STAD-US 19 2989114 2989114 single base substitution G A downstream_gene_variant STAD-US 19 2989114 2989114 single base substitution G A exon_variant STAD-US 19 2989114 2989114 single base substitution G A missense_variant G143R 427G>A STAD-US 19 2989114 2989114 single base substitution G A missense_variant G266R 796G>A STAD-US 19 2989160 2989160 single base substitution G A downstream_gene_variant STAD-US 19 2989160 2989160 single base substitution G A exon_variant STAD-US 19 2989160 2989160 single base substitution G A missense_variant R158Q 473G>A STAD-US 19 2989160 2989160 single base substitution G A missense_variant R281Q 842G>A STAD-US 19 2989174 2989174 single base substitution G T downstream_gene_variant STAD-US 19 2989174 2989174 single base substitution G T exon_variant STAD-US 19 2989174 2989174 single base substitution G T missense_variant G163W 487G>T STAD-US 19 2989174 2989174 single base substitution G T missense_variant G286W 856G>T STAD-US 19 2989687 2989687 single base substitution A G downstream_gene_variant STAD-US 19 2989687 2989687 single base substitution A G exon_variant STAD-US 19 2989687 2989687 single base substitution A G missense_variant Q260R 779A>G STAD-US 19 2989687 2989687 single base substitution A G missense_variant Q383R 1148A>G STAD-US 19 2991927 2991927 single base substitution G T downstream_gene_variant STAD-US 19 2991927 2991927 single base substitution G T exon_variant STAD-US 19 2991927 2991927 single base substitution G T missense_variant R321L 962G>T STAD-US 19 2991927 2991927 single base substitution G T missense_variant R444L 1331G>T STAD-US 19 2991983 2991983 single base substitution G A downstream_gene_variant STAD-US 19 2991983 2991983 single base substitution G A splice_donor_variant STAD-US 19 2993498 2993498 single base substitution G A downstream_gene_variant STAD-US 19 2993498 2993498 single base substitution G A exon_variant STAD-US 19 2993498 2993498 single base substitution G A stop_gained W362* 1086G>A STAD-US 19 2993498 2993498 single base substitution G A stop_gained W485* 1455G>A THCA-SA 19 2977599 2977599 single base substitution C G 5_prime_UTR_variant THCA-SA 19 2977599 2977599 single base substitution C G exon_variant UCEC-US 19 2989213 2989213 single base substitution C T downstream_gene_variant UCEC-US 19 2989213 2989213 single base substitution C T exon_variant UCEC-US 19 2989213 2989213 single base substitution C T missense_variant R176W 526C>T UCEC-US 19 2989213 2989213 single base substitution C T missense_variant R299W 895C>T UCEC-US 19 2989551 2989551 single base substitution C T downstream_gene_variant UCEC-US 19 2989551 2989551 single base substitution C T exon_variant UCEC-US 19 2989551 2989551 single base substitution C T missense_variant R215C 643C>T UCEC-US 19 2989551 2989551 single base substitution C T missense_variant R338C 1012C>T UCEC-US 19 2993570 2993570 single base substitution C A downstream_gene_variant UCEC-US 19 2993570 2993570 single base substitution C A exon_variant UCEC-US 19 2993570 2993570 single base substitution C A missense_variant F386L 1158C>A UCEC-US 19 2993570 2993570 single base substitution C A missense_variant F509L 1527C>A UCEC-US 19 2994089 2994089 single base substitution T C downstream_gene_variant UCEC-US 19 2994089 2994089 single base substitution T C exon_variant UCEC-US 19 2994089 2994089 single base substitution T C missense_variant F414S 1241T>C UCEC-US 19 2994089 2994089 single base substitution T C missense_variant F537S 1610T>C UCEC-US 19 2994930 2994930 single base substitution C T downstream_gene_variant UCEC-US 19 2994930 2994930 single base substitution C T exon_variant UCEC-US 19 2994930 2994930 single base substitution C T synonymous_variant D426D 1278C>T UCEC-US 19 2994930 2994930 single base substitution C T synonymous_variant D549D 1647C>T UCEC-US 19 2997883 2997883 single base substitution C A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FP-A4BE-01 COSM4076546 c.473G>A p.R158Q Substitution - Missense 19:2989162-2989162 + TCGA-EE-A20F-06 COSM3531983 c.601C>T p.P201S Substitution - Missense 19:2989290-2989290 + CSCC-40-T COSM474496 c.196G>A p.E66K Substitution - Missense 19:2987730-2987730 + sysucc-966T COSM5487076 c.1684G>A p.G562R Substitution - Missense 19:2994969-2994969 + RK26-R11 COSM4411084 c.289C>T p.P97S Substitution - Missense 19:2987930-2987930 + ESO-0025 COSM1267885 c.1342C>T p.Q448* Substitution - Nonsense 19:2991940-2991940 + TCGA-AF-3914-01 COSM5065636 c.1017+10C>A p.? Unknown 19:2991994-2991994 + TCGA-BP-5000-01 COSM1494325 c.765A>T p.A255A Substitution - coding silent 19:2989675-2989675 + CSCC-18-T COSM4524139 c.1255G>A p.G419S Substitution - Missense 19:2991853-2991853 + EW8 COSM2749908 c.226G>C p.G76R Substitution - Missense 19:2987760-2987760 + TCGA-EE-A20F-06 COSM3531982 c.970C>T p.P324S Substitution - Missense 19:2989290-2989290 + 49M COSM5593456 c.651C>T p.S217S Substitution - coding silent 19:2987923-2987923 + DN12042 COSM5769967 c.1226C>T p.A409V Substitution - Missense 19:2994076-2994076 + 49M COSM5593457 c.282C>T p.S94S Substitution - coding silent 19:2987923-2987923 + TCGA-HF-7132-01 COSM4076548 c.487G>T p.G163W Substitution - Missense 19:2989176-2989176 + PD4255a COSM5774482 c.1593G>T p.P531P Substitution - coding silent 19:2994074-2994074 + TCGA-CA-6717-01 COSM1392323 c.1158C>G p.F386L Substitution - Missense 19:2993572-2993572 + Au8 COSM5607115 c.664G>A p.G222S Substitution - Missense 19:2987936-2987936 + PD11348a COSM5769966 c.1595C>T p.A532V Substitution - Missense 19:2994076-2994076 + TCGA-EE-A2GN-06 COSM3531989 c.948G>T p.P316P Substitution - coding silent 19:2991915-2991915 + CX-1 COSM4621633 c.1611C>T p.F537F Substitution - coding silent 19:2994092-2994092 + SNU-C2B COSM2749888 c.180G>A p.S60S Substitution - coding silent 19:2981583-2981583 + CX-1 COSM4621634 c.1242C>T p.F414F Substitution - coding silent 19:2994092-2994092 + 3206A7_017_T COSM5042553 c.56C>T p.P19L Substitution - Missense 19:2987122-2987122 + Pat_74_B COSM5855358 c.892C>T p.P298S Substitution - Missense 19:2991859-2991859 + TCGA-DA-A1I5-06 COSM3531977 c.89G>A p.W30* Substitution - Nonsense 19:2987155-2987155 + TCGA-D5-6924-01 COSM1392316 c.622T>G p.S208A Substitution - Missense 19:2987787-2987787 + Pat_06_B COSM5855354 c.369C>G p.I123M Substitution - Missense 19:2987066-2987066 + TCGA-BR-8680-01 COSM4076544 c.427G>A p.G143R Substitution - Missense 19:2989116-2989116 + TCGA-AX-A05Z-01 COSM994366 c.1527C>A p.F509L Substitution - Missense 19:2993572-2993572 + TCGA-CA-6717-01 COSM1392322 c.1527C>G p.F509L Substitution - Missense 19:2993572-2993572 + TCGA-BS-A0UF-01 COSM994369 c.1241T>C p.F414S Substitution - Missense 19:2994091-2994091 + TCGA-AG-3725-01 COSM5066801 c.898G>A p.G300R Substitution - Missense 19:2991865-2991865 + TCGA-AX-A0J0-01 COSM994370 c.1647C>T p.D549D Substitution - coding silent 19:2994932-2994932 + TCGA-DA-A1I5-06 COSM3531976 c.458G>A p.W153* Substitution - Nonsense 19:2987155-2987155 + LUAD-YINHD COSM349554 c.862C>T p.Q288* Substitution - Nonsense 19:2989772-2989772 + 2492711 COSM5607115 c.664G>A p.G222S Substitution - Missense 19:2987936-2987936 + CHC1209T COSM4804567 c.1612G>A p.E538K Substitution - Missense 19:2994093-2994093 + TCGA-AU-6004-01 COSM994365 c.643C>T p.R215C Substitution - Missense 19:2989553-2989553 + BD223T COSM994362 c.895C>T p.R299W Substitution - Missense 19:2989215-2989215 + TCGA-CG-5723-01 COSM4076542 c.330C>T p.V110V Substitution - coding silent 19:2987971-2987971 + TCGA-IR-A3LH-01 COSM4832320 c.542-1G>A p.? Unknown 19:2987355-2987355 + TCGA-BR-8487-01 COSM4076555 c.1455G>A p.W485* Substitution - Nonsense 19:2993500-2993500 + TCGA-G4-6586-01 COSM1392313 c.155C>T p.A52V Substitution - Missense 19:2981558-2981558 + CSCC-18-T COSM4524140 c.886G>A p.G296S Substitution - Missense 19:2991853-2991853 + SC_9047 COSM5561011 c.806A>G p.N269S Substitution - Missense 19:2989716-2989716 + TCGA-BC-A10Z-01 COSM4936182 c.650G>A p.C217Y Substitution - Missense 19:2989560-2989560 + PT37 COSM5921598 c.298G>A p.E100K Substitution - Missense 19:2986995-2986995 + 1517_PT COSM5755333 c.677G>T p.R226M Substitution - Missense 19:2987949-2987949 + HCT15 COSM2749885 c.31G>T p.G11C Substitution - Missense 19:2978264-2978264 + TCGA-EE-A2GN-06 COSM3531988 c.1317G>T p.P439P Substitution - coding silent 19:2991915-2991915 + TCGA-60-2723-01 COSM710560 c.770C>T p.A257V Substitution - Missense 19:2989090-2989090 + BD186T COSM5501244 c.181-9C>T p.? Unknown 19:2982139-2982139 + PT49 COSM5936538 c.1291G>A p.G431S Substitution - Missense 19:2991889-2991889 + TCGA-FR-A69P-06 COSM3531984 c.1040G>A p.R347K Substitution - Missense 19:2989581-2989581 + TCGA-DD-A4NV-01 COSM2749933 c.1330C>T p.R444W Substitution - Missense 19:2991928-2991928 + TCGA-D3-A2JO-06 COSM3531995 c.1189G>A p.G397R Substitution - Missense 19:2994039-2994039 + Pat_14_B COSM5855355 c.665G>A p.G222D Substitution - Missense 19:2987937-2987937 + LUAD-YINHD COSM349553 c.1231C>T p.Q411* Substitution - Nonsense 19:2989772-2989772 + TCGA-AB-2915-03 COSM1318338 c.1094C>G p.A365G Substitution - Missense 19:2989635-2989635 + CHC1209T COSM4804568 c.1243G>A p.E415K Substitution - Missense 19:2994093-2994093 + TCGA-BP-5180-01 COSM474495 c.565G>A p.E189K Substitution - Missense 19:2987730-2987730 + YUROS COSM994362 c.895C>T p.R299W Substitution - Missense 19:2989215-2989215 + TCGA-AU-6004-01 COSM994364 c.1012C>T p.R338C Substitution - Missense 19:2989553-2989553 + 2492713 COSM5607115 c.664G>A p.G222S Substitution - Missense 19:2987936-2987936 + TCGA-D3-A3MR-06 COSM2749931 c.1281C>T p.I427I Substitution - coding silent 19:2991879-2991879 + PD11326a COSM5789721 c.1261C>A p.P421T Substitution - Missense 19:2991859-2991859 + PD9575a COSM5769658 c.1015C>A p.Q339K Substitution - Missense 19:2991982-2991982 + pfg019T COSM1641112 c.1309_1310insG p.P439fs*103 Insertion - Frameshift 19:2991907-2991908 + TCGA-EE-A2GO-06 COSM3531981 c.186C>T p.G62G Substitution - coding silent 19:2987369-2987369 + PD11326a COSM5789722 c.892C>A p.P298T Substitution - Missense 19:2991859-2991859 + Au1 COSM5597720 c.1698C>T p.S566S Substitution - coding silent 19:2994983-2994983 + 1517_CLM COSM5755334 c.308G>T p.R103M Substitution - Missense 19:2987949-2987949 + CSCC-31-T COSM4515512 c.1151_1152CC>TT p.A384V Substitution - Missense 19:2989692-2989693 + 587338 COSM1229353 c.125G>A p.R42Q Substitution - Missense 19:2987191-2987191 + TCGA-EE-A29D-06 COSM3531993 c.1156T>C p.F386L Substitution - Missense 19:2993570-2993570 + TCGA-BR-7707-01 COSM4076552 c.962G>T p.R321L Substitution - Missense 19:2991929-2991929 + TCGA-C8-A3M7-01 COSM3822610 c.913G>A p.G305S Substitution - Missense 19:2989233-2989233 + TCGA-EE-A2GI-06 COSM3531987 c.695A>G p.N232S Substitution - Missense 19:2989605-2989605 + TCGA-BR-8680-01 COSM4076543 c.796G>A p.G266R Substitution - Missense 19:2989116-2989116 + 2492712 COSM5607116 c.295G>A p.G99S Substitution - Missense 19:2987936-2987936 + LUAD-CHTN-MAD06-00490 COSM357976 c.556C>A p.L186M Substitution - Missense 19:2987370-2987370 + TCGA-AP-A059-01 COSM994362 c.895C>T p.R299W Substitution - Missense 19:2989215-2989215 + TCGA-B6-A0IJ-01 COSM439162 c.1529C>G p.S510C Substitution - Missense 19:2993574-2993574 + YUKAE COSM5389285 c.319C>T p.P107S Substitution - Missense 19:2987016-2987016 + TCGA-BS-A0UF-01 COSM994368 c.1610T>C p.F537S Substitution - Missense 19:2994091-2994091 + 2521259 COSM1229355 c.32G>A p.R11Q Substitution - Missense 19:2987098-2987098 + BD124T COSM5493763 c.922G>T p.G308C Substitution - Missense 19:2989242-2989242 + I2L-P7-Tumor-Organoid COSM5365528 c.1591C>T p.P531S Substitution - Missense 19:2994072-2994072 + CHC892T COSM4794747 c.222G>A p.Q74Q Substitution - coding silent 19:2982189-2982189 + LUAD-CHTN-MAD06-00490 COSM357977 c.187C>A p.L63M Substitution - Missense 19:2987370-2987370 + PT49 COSM5936539 c.922G>A p.G308S Substitution - Missense 19:2991889-2991889 + GB07 COSM1744554 c.134G>C p.R45T Substitution - Missense 19:2980182-2980182 + Pat_14_B COSM5855356 c.296G>A p.G99D Substitution - Missense 19:2987937-2987937 + PT52 COSM5940954 c.446C>T p.A149V Substitution - Missense 19:2989135-2989135 + TCGA-CM-6162-01 COSM1392318 c.822G>A p.P274P Substitution - coding silent 19:2989142-2989142 + Pat_74_A COSM5855357 c.1261C>T p.P421S Substitution - Missense 19:2991859-2991859 + TCGA-AP-A059-01 COSM994363 c.526C>T p.R176W Substitution - Missense 19:2989215-2989215 + TCGA-BP-5000-01 COSM1494324 c.1134A>T p.A378A Substitution - coding silent 19:2989675-2989675 + NB-3160 COSM1288463 c.556C>T p.L186L Substitution - coding silent 19:2987370-2987370 + BD124T COSM5493764 c.553G>T p.G185C Substitution - Missense 19:2989242-2989242 + TCGA-FS-A1ZA-06 COSM3531974 c.394C>T p.L132F Substitution - Missense 19:2987091-2987091 + TCGA-AX-A05Z-01 COSM994367 c.1158C>A p.F386L Substitution - Missense 19:2993572-2993572 + 2521259 COSM1229354 c.401G>A p.R134Q Substitution - Missense 19:2987098-2987098 + TCGA-DK-A1A3-01 COSM418345 c.633G>A p.R211R Substitution - coding silent 19:2987905-2987905 + TCGA-23-1124-01 COSM76738 c.992C>A p.P331H Substitution - Missense 19:2991959-2991959 + 3N09-VS-3T09 COSM4979208 c.1555G>A p.V519I Substitution - Missense 19:2994036-2994036 + HCT8 COSM2749885 c.31G>T p.G11C Substitution - Missense 19:2978264-2978264 + TCGA-BR-8487-01 COSM4076556 c.1086G>A p.W362* Substitution - Nonsense 19:2993500-2993500 + TCGA-AB-2915-03 COSM1318339 c.725C>G p.A242G Substitution - Missense 19:2989635-2989635 + Au1 COSM5597721 c.1329C>T p.S443S Substitution - coding silent 19:2994983-2994983 + TCGA-EE-A2MS-06 COSM3531990 c.1361C>T p.P454L Substitution - Missense 19:2991959-2991959 + HT29 COSM4621634 c.1242C>T p.F414F Substitution - coding silent 19:2994092-2994092 + PT33 COSM5909785 c.75G>A p.W25* Substitution - Nonsense 19:2987141-2987141 + 8061105 COSM3388819 c.724C>T p.R242W Substitution - Missense 19:2988112-2988112 + TCGA-EE-A29D-06 COSM3531992 c.1525T>C p.F509L Substitution - Missense 19:2993570-2993570 + TCGA-F5-6814-01 COSM3422630 c.1242C>A p.F414L Substitution - Missense 19:2994092-2994092 + CSCC-55-T COSM4533604 c.199G>A p.D67N Substitution - Missense 19:2982166-2982166 + TCGA-FW-A3R5-06 COSM3892202 c.888C>T p.S296S Substitution - coding silent 19:2989208-2989208 + TCGA-AN-A0FT-01 COSM439164 c.1592C>T p.P531L Substitution - Missense 19:2994073-2994073 + ESO-0025 COSM1267886 c.973C>T p.Q325* Substitution - Nonsense 19:2991940-2991940 + PD11348a COSM5769967 c.1226C>T p.A409V Substitution - Missense 19:2994076-2994076 + TCGA-AP-A0LD-01 COSM994373 c.1348T>C p.*450R Nonstop extension 19:2995002-2995002 + 12-P4072 COSM4580893 c.1095G>A p.A365A Substitution - coding silent 19:2989636-2989636 + BD223T COSM994363 c.526C>T p.R176W Substitution - Missense 19:2989215-2989215 + CHC1209T COSM4804567 c.1612G>A p.E538K Substitution - Missense 19:2994093-2994093 + Pat_74_A COSM5855358 c.892C>T p.P298S Substitution - Missense 19:2991859-2991859 + 2492714 COSM5607116 c.295G>A p.G99S Substitution - Missense 19:2987936-2987936 + YUKAT COSM5389287 c.42G>A p.G14G Substitution - coding silent 19:2987108-2987108 + TCGA-B7-5816-01 COSM4076549 c.1148A>G p.Q383R Substitution - Missense 19:2989689-2989689 + 35M COSM5582766 c.720C>T p.D240D Substitution - coding silent 19:2989630-2989630 + SC_9054 COSM5565479 c.896G>A p.R299Q Substitution - Missense 19:2989216-2989216 + 587376 COSM1229354 c.401G>A p.R134Q Substitution - Missense 19:2987098-2987098 + TCGA-HF-7132-01 COSM4076547 c.856G>T p.G286W Substitution - Missense 19:2989176-2989176 + TCGA-FS-A4F5-06 COSM1229353 c.125G>A p.R42Q Substitution - Missense 19:2987191-2987191 + TCGA-BC-A10Z-01 COSM4936181 c.1019G>A p.C340Y Substitution - Missense 19:2989560-2989560 + TCGA-AP-A056-01 COSM994364 c.1012C>T p.R338C Substitution - Missense 19:2989553-2989553 + PD9575a COSM5769657 c.1384C>A p.Q462K Substitution - Missense 19:2991982-2991982 + TCGA-FS-A1ZA-06 COSM3531975 c.25C>T p.L9F Substitution - Missense 19:2987091-2987091 + TCGA-D5-6540-01 COSM1392314 c.561G>A p.G187G Substitution - coding silent 19:2987726-2987726 + YUKAT COSM5389286 c.411G>A p.G137G Substitution - coding silent 19:2987108-2987108 + 3206A7_017_T COSM5042552 c.425C>T p.P142L Substitution - Missense 19:2987122-2987122 + TCGA-CA-6717-01 COSM3692269 c.50C>T p.S17L Substitution - Missense 19:2978283-2978283 + TCGA-FR-A69P-06 COSM3531985 c.671G>A p.R224K Substitution - Missense 19:2989581-2989581 + TCGA-AG-A02N-01 COSM5074739 c.372-9C>A p.? Unknown 19:2989052-2989052 + TCGA-D3-A2JO-06 COSM3531994 c.1558G>A p.G520R Substitution - Missense 19:2994039-2994039 + TCGA-FP-A4BE-01 COSM4076545 c.842G>A p.R281Q Substitution - Missense 19:2989162-2989162 + TCGA-AN-A0FX-01 COSM439159 c.172+1_172+2delGT p.? Unknown 2492713 COSM5607116 c.295G>A p.G99S Substitution - Missense 19:2987936-2987936 + 35M COSM5582765 c.1089C>T p.D363D Substitution - coding silent 19:2989630-2989630 + 3N09-VS-3T09 COSM4979209 c.1186G>A p.V396I Substitution - Missense 19:2994036-2994036 + I2L-P7-Tumor-Organoid COSM5365626 c.318G>A p.T106T Substitution - coding silent 19:2987015-2987015 + TCGA-IR-A3LK-01 COSM4816944 c.340C>A p.P114T Substitution - Missense 19:2988097-2988097 + TCGA-E2-A1B0-01 COSM439161 c.196G>T p.E66* Substitution - Nonsense 19:2987730-2987730 + TCGA-AG-A002-01 COSM264047 c.276C>A p.A92A Substitution - coding silent 19:2987917-2987917 + YUMOKI COSM5389289 c.1045G>A p.E349K Substitution - Missense 19:2993459-2993459 + 2492711 COSM5607116 c.295G>A p.G99S Substitution - Missense 19:2987936-2987936 + 304_T COSM3959871 c.703-8G>A p.? Unknown 19:2988083-2988083 + TCGA-D5-6924-01 COSM1392317 c.253T>G p.S85A Substitution - Missense 19:2987787-2987787 + HT29 COSM4621633 c.1611C>T p.F537F Substitution - coding silent 19:2994092-2994092 + 2492712 COSM5607115 c.664G>A p.G222S Substitution - Missense 19:2987936-2987936 + PD9752a COSM5786026 c.1252G>A p.E418K Substitution - Missense 19:2994906-2994906 + 08-P8005 COSM4580891 c.795C>T p.P265P Substitution - coding silent 19:2989115-2989115 + TCGA-FW-A3R5-06 COSM3892203 c.519C>T p.S173S Substitution - coding silent 19:2989208-2989208 + CSCC-31-T COSM4515513 c.782_783CC>TT p.A261V Substitution - Missense 19:2989692-2989693 + TCGA-CG-5723-01 COSM4076541 c.699C>T p.V233V Substitution - coding silent 19:2987971-2987971 + pfg019T COSM1641113 c.940_941insG p.P316fs*103 Insertion - Frameshift 19:2991907-2991908 + SC_9047 COSM5561010 c.1175A>G p.N392S Substitution - Missense 19:2989716-2989716 + TCGA-EI-6507-01 COSM1564527 c.101A>G p.Q34R Substitution - Missense 19:2980149-2980149 + OSCC-GB_00730111 COSM4889048 c.628C>T p.P210S Substitution - Missense 19:2987900-2987900 + CHC1209T COSM4804568 c.1243G>A p.E415K Substitution - Missense 19:2994093-2994093 + CSCC-40-T COSM474495 c.565G>A p.E189K Substitution - Missense 19:2987730-2987730 + 12-P4072 COSM4580894 c.726G>A p.A242A Substitution - coding silent 19:2989636-2989636 + 35M COSM5582764 c.69G>A p.S23S Substitution - coding silent 19:2980117-2980117 + sysucc-880T COSM5461778 c.1251T>C p.P417P Substitution - coding silent 19:2994905-2994905 + 08-P8005 COSM4580892 c.426C>T p.P142P Substitution - coding silent 19:2989115-2989115 + PDA_003 COSM4997804 c.868C>T p.L290F Substitution - Missense 19:2989188-2989188 + TCGA-AN-A0FT-01 COSM439165 c.1223C>T p.P408L Substitution - Missense 19:2994073-2994073 + JEKO-1 COSM1740586 c.1229G>C p.G410A Substitution - Missense 19:2994079-2994079 + OSCC-GB_00730111 COSM4889049 c.259C>T p.P87S Substitution - Missense 19:2987900-2987900 + TCGA-B7-5816-01 COSM4076553 c.1386+1G>A p.? Unknown 19:2991985-2991985 + C086 COSM3692269 c.50C>T p.S17L Substitution - Missense 19:2978283-2978283 + 304_T COSM3959872 c.334-8G>A p.? Unknown 19:2988083-2988083 + TCGA-AN-A046-01 COSM3822609 c.87G>A p.P29P Substitution - coding silent 19:2980135-2980135 + EW8 COSM2749907 c.595G>C p.G199R Substitution - Missense 19:2987760-2987760 + TCGA-E2-A1B0-01 COSM439160 c.565G>T p.E189* Substitution - Nonsense 19:2987730-2987730 + YUROS COSM994363 c.526C>T p.R176W Substitution - Missense 19:2989215-2989215 + 2492714 COSM5607115 c.664G>A p.G222S Substitution - Missense 19:2987936-2987936 + TCGA-CM-6162-01 COSM1392319 c.453G>A p.P151P Substitution - coding silent 19:2989142-2989142 + 587376 COSM1229355 c.32G>A p.R11Q Substitution - Missense 19:2987098-2987098 + SC_9054 COSM5565480 c.527G>A p.R176Q Substitution - Missense 19:2989216-2989216 + sysucc-966T COSM5487077 c.1315G>A p.G439R Substitution - Missense 19:2994969-2994969 + TCGA-F5-6814-01 COSM3422629 c.1611C>A p.F537L Substitution - Missense 19:2994092-2994092 + TCGA-D3-A3MR-06 COSM2749932 c.912C>T p.I304I Substitution - coding silent 19:2991879-2991879 + Au8 COSM5607116 c.295G>A p.G99S Substitution - Missense 19:2987936-2987936 + PT52 COSM5940953 c.815C>T p.A272V Substitution - Missense 19:2989135-2989135 + TCGA-EE-A2GI-06 COSM3531986 c.1064A>G p.N355S Substitution - Missense 19:2989605-2989605 + PD9752a COSM5786025 c.1621G>A p.E541K Substitution - Missense 19:2994906-2994906 + 8061105 COSM3388820 c.355C>T p.R119W Substitution - Missense 19:2988112-2988112 + TCGA-BR-7707-01 COSM4076551 c.1331G>T p.R444L Substitution - Missense 19:2991929-2991929 + CSCC-40-T COSM4463615 c.129C>T p.F43F Substitution - coding silent 19:2980177-2980177 + TCGA-B6-A0IJ-01 COSM439163 c.1160C>G p.S387C Substitution - Missense 19:2993574-2993574 + TCGA-AP-A056-01 COSM994365 c.643C>T p.R215C Substitution - Missense 19:2989553-2989553 + CHC892T COSM4794747 c.222G>A p.Q74Q Substitution - coding silent 19:2982189-2982189 + TCGA-IR-A3LK-01 COSM4816943 c.709C>A p.P237T Substitution - Missense 19:2988097-2988097 + TCGA-EE-A2MS-06 COSM3531991 c.992C>T p.P331L Substitution - Missense 19:2991959-2991959 + TCGA-IR-A3LA-01 COSM4844692 c.240G>C p.Q80H Substitution - Missense 19:2986846-2986846 + TCGA-AN-A0FX-01 COSM439158 c.541+1_541+2delGT p.? Unknown 1517_CLM COSM5755333 c.677G>T p.R226M Substitution - Missense 19:2987949-2987949 + DLD1 COSM2749885 c.31G>T p.G11C Substitution - Missense 19:2978264-2978264 + TCGA-C8-A3M7-01 COSM3822611 c.544G>A p.G182S Substitution - Missense 19:2989233-2989233 + TCGA-DK-A1A3-01 COSM418346 c.264G>A p.R88R Substitution - coding silent 19:2987905-2987905 + TCGA-D5-6540-01 COSM1392315 c.192G>A p.G64G Substitution - coding silent 19:2987726-2987726 + TCGA-B7-5816-01 COSM4076550 c.779A>G p.Q260R Substitution - Missense 19:2989689-2989689 + DN12042 COSM5769966 c.1595C>T p.A532V Substitution - Missense 19:2994076-2994076 + PD4255a COSM5774483 c.1224G>T p.P408P Substitution - coding silent 19:2994074-2994074 + TCGA-FS-A4F5-06 COSM1229352 c.494G>A p.R165Q Substitution - Missense 19:2987191-2987191 + 587338 COSM1229352 c.494G>A p.R165Q Substitution - Missense 19:2987191-2987191 + TCGA-IR-A3LH-01 COSM4832321 c.173-1G>A p.? Unknown 19:2987355-2987355 + Pat_74_B COSM5855357 c.1261C>T p.P421S Substitution - Missense 19:2991859-2991859 + RK26-R11 COSM4411083 c.658C>T p.P220S Substitution - Missense 19:2987930-2987930 + TCGA-EE-A2GO-06 COSM3531980 c.555C>T p.G185G Substitution - coding silent 19:2987369-2987369 + sysucc-880T COSM5461777 c.1620T>C p.P540P Substitution - coding silent 19:2994905-2994905 + TCGA-EE-A181-06 COSM3531979 c.170G>A p.R57K Substitution - Missense 19:2987236-2987236 + YUMOKI COSM5389288 c.1414G>A p.E472K Substitution - Missense 19:2993459-2993459 + 2334199 COSM323837 c.244G>T p.V82L Substitution - Missense 19:2986850-2986850 + 49M COSM3692269 c.50C>T p.S17L Substitution - Missense 19:2978283-2978283 + TCGA-AX-A0J0-01 COSM994371 c.1278C>T p.D426D Substitution - coding silent 19:2994932-2994932 + TCGA-EE-A181-06 COSM3531978 c.539G>A p.R180K Substitution - Missense 19:2987236-2987236 + 1517_PT COSM5755334 c.308G>T p.R103M Substitution - Missense 19:2987949-2987949 + TCGA-AR-A0TX-01 COSM439157 c.361G>C p.E121Q Substitution - Missense 19:2987058-2987058 + PT33 COSM5909784 c.444G>A p.W148* Substitution - Nonsense 19:2987141-2987141 + JEKO-1 COSM1740585 c.1598G>C p.G533A Substitution - Missense 19:2994079-2994079 + TCGA-DD-A4NV-01 COSM2749934 c.961C>T p.R321W Substitution - Missense 19:2991928-2991928 + NB-3160 COSM1288464 c.187C>T p.L63L Substitution - coding silent 19:2987370-2987370 + I2L-P7-Tumor-Organoid COSM5365529 c.1222C>T p.P408S Substitution - Missense 19:2994072-2994072 + TCGA-BP-5180-01 COSM474496 c.196G>A p.E66K Substitution - Missense 19:2987730-2987730 + TCGA-60-2723-01 COSM710561 c.401C>T p.A134V Substitution - Missense 19:2989090-2989090 + PDA_003 COSM4997805 c.499C>T p.L167F Substitution - Missense 19:2989188-2989188 + TCGA-B7-5816-01 COSM4076554 c.1017+1G>A p.? Unknown 19:2991985-2991985 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.334507 19p13.3 612399

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K150R c.449A>G 19 2987144 HNSC A G Missense p.N355S c.1064A>G 19 2989603 CM A G Missense p.Q383R c.1148A>G 19 2989687 STAD C A Missense p.P454H c.1361C>A 19 2991957 OV C G Missense p.A365G c.1094C>G 19 2989633 AML C G Missense p.S510C c.1529C>G 19 2993572 BRCA C T IntronicSNV . c.558+105C>T 19 2987475 CM C T IntronicSNV . c.626-6C>T 19 2987890 CM C T Missense p.A257V c.770C>T 19 2989088 LUSC C T Missense p.L132F c.394C>T 19 2987089 CM C T Missense p.P324S c.970C>T 19 2989288 CM C T Missense p.P454L c.1361C>T 19 2991957 CM C T Missense p.P511L c.1532C>T 19 2993575 CM C T Missense p.P531L c.1592C>T 19 2994071 BRCA C T Nonsense p.Q448* c.1342C>T 19 2991938 ESCA C T Synonymous p.G185G c.555C>T 19 2987367 CM C T Synonymous p.H495H c.1485C>T 19 2993528 HNSC C T Synonymous p.I427I c.1281C>T 19 2991877 CM C T Synonymous p.L186L c.556C>T 19 2987368 NB G A IntronicSNV . c.223-458G>A 19 2986369 CLL G A Missense p.E189K c.565G>A 19 2987728 RCCC G A Missense p.G199E c.596G>A 19 2987759 HNSC G A Missense p.G520R c.1558G>A 19 2994037 CM G A Missense p.R180K c.539G>A 19 2987234 CM G A Nonsense p.W153* c.458G>A 19 2987153 CM G A SpliceDonorSNV . c.1386+1G>A 19 2991983 STAD G A Synonymous p.R211R c.633G>A 19 2987903 BLCA - G Frameshift p.P439Sfs*103 c.1313dupG 19 2991906 STAD G T Missense p.R307I c.920G>T 19 2989238 LUAD G T Missense p.V82L c.244G>T 19 2986848 SCLC G T Nonsense p.E189* c.565G>T 19 2987728 BRCA GT - SpliceDonorDeletion . c.541+2_541+3delTG 19 2987237 BRCA G T Synonymous p.P439P c.1317G>T 19 2991913 CM T A IntronicSNV . c.1244+891T>A 19 2990674 CLL