Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut DGKQ 1609 broad.mit.edu 37 4 959854 959854 + Nonsense_Mutation SNP G G A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr4:959854G>A ENST00000273814.3 - 13 1514 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* DGKQ_ENST00000502309.1_5'UTR NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 481 Ras-associating. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGGCTCACCTGCCGCACAGAC 0.662000 5 4 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129519127 129519127 + Missense_Mutation SNP T T G TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chrX:129519127T>G ENST00000276218.2 - 1 384 c.295A>C c.(295-297)Atc>Ctc p.I99L NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 99 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 TCAAAGGTGATCAGCATGACC 0.592000 52 114 0 0 1 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931475 102931475 + Missense_Mutation SNP C C T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chrX:102931475C>T ENST00000423833.2 - 3 1706 c.481G>A c.(481-483)Gag>Aag p.E161K MORF4L2_ENST00000451301.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000441076.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000372620.1_Missense_Mutation_p.E43K|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E161K Q15014 MO4L2_HUMAN mortality factor 4 like 2 161 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 TTTGCATACTCCTCCAGAATT 0.388000 61 158 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88946070 88946070 + Missense_Mutation SNP A A G TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr14:88946070A>G ENST00000556564.1 - 13 1989 c.1705T>C c.(1705-1707)Tac>Cac p.Y569H PTPN21_ENST00000328736.3_Missense_Mutation_p.Y569H NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 569 Poly-Pro. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGGGGCGGGTAGGGTGGGGGT 0.687000 3 6 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127408456 127408456 + Missense_Mutation SNP A A T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr10:127408456A>T ENST00000337623.3 + 1 185 c.80A>T c.(79-81)cAg>cTg p.Q27L C10orf137_ENST00000356792.4_Missense_Mutation_p.Q27L NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTCCTGTCCCAGGGAGAATCC 0.711000 12 20 0 0 1 0 0 SPAG11A 653423 broad.mit.edu 37 8 7718281 7718281 + Missense_Mutation SNP A A G TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr8:7718281A>G ENST00000326625.5 + 2 222 c.169A>G c.(169-171)Aat>Gat p.N57D SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000454911.2_3'UTR sperm associated antigen 11A central_nervous_system(1)|lung(2) 3 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) TGATCCCTGGAATAGGTGTTG 0.443000 5 51 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070824 141070824 + RNA SNP T T G rs9410092 by1000genomes TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr9:141070824T>G ENST00000503395.1 + 0 1599 TCTGGGATGGTTACCCTCCTC 0.582000 4 45 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88946074 88946074 + Silent SNP T T G TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr14:88946074T>G ENST00000556564.1 - 13 1985 c.1701A>C c.(1699-1701)ccA>ccC p.P567P PTPN21_ENST00000328736.3_Silent_p.P567P NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 567 Poly-Pro. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity p.P567P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GCGGGTAGGGTGGGGGTGGCC 0.692000 3 6 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3102815 3102815 + Missense_Mutation SNP C C T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr1:3102815C>T ENST00000378398.3 + 2 246 c.164C>T c.(163-165)cCc>cTc p.P55L PRDM16_ENST00000378391.2_Missense_Mutation_p.P55L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P55L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P55L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P55L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P55L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P55L Q9HAZ2 PRD16_HUMAN PR domain containing 16 55 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TCCCCCTTCCCCACCAGCGAG 0.662000 T EVI1 """MDS, AML""" 24 63 0 0 1 0 0 UGT1A4 0 broad.mit.edu 37 2 234627585 234627585 + Missense_Mutation SNP C C A rs149017068 byFrequency TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr2:234627585C>A ENST00000373409.3 + 1 162 c.119C>A c.(118-120)cCc>cAc p.P40H UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) GATGGCAGCCCCTGGCTCAGC 0.632000 4 45 0.184627 0.184627 1 1 0 UGT2A1 10941 broad.mit.edu 37 4 70464983 70464983 + Missense_Mutation SNP G G A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr4:70464983G>A ENST00000503640.1 - 2 900 c.845C>T c.(844-846)cCt>cTt p.P282L UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.P291L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P492L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P326L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.P282L NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 282 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AGGTTTGGCAGGTTTGCAGTG 0.348000 5 39 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38318081 38318081 + Silent SNP G G A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr22:38318081G>A ENST00000215957.6 + 6 798 c.672G>A c.(670-672)ggG>ggA p.G224G NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 224 LIM zinc-binding. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TGGGCCCGGGGACACGGTCGG 0.652000 4 40 0 0 1 0 0 FGF20 26281 broad.mit.edu 37 8 16850687 16850687 + Missense_Mutation SNP T T C TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr8:16850687T>C ENST00000180166.5 - 3 678 c.530A>G c.(529-531)gAt>gGt p.D177G NM_019851.2 NP_062825.1 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 177 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CCTGGCGCCATCTCTTGGAGT 0.428000 39 91 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436988 179436988 + Missense_Mutation SNP G G A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr2:179436988G>A ENST00000589042.1 - 326 74095 c.73871C>T c.(73870-73872)aCt>aTt p.T24624I TTN_ENST00000342992.6_Missense_Mutation_p.T22056I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15559I|TTN_ENST00000359218.5_Missense_Mutation_p.T15684I|TTN_ENST00000342175.6_Missense_Mutation_p.T15751I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22983I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22983 Ig-like 122. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCCATCAAAGTTATTTTTCC 0.468000 9 30 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325310 152325310 + Missense_Mutation SNP G G T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr1:152325310G>T ENST00000388718.5 - 3 5024 c.4952C>A c.(4951-4953)tCt>tAt p.S1651Y FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1651 calcium ion binding|structural molecule activity p.S1651Y(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGTGGCTAGATCTCTGTCT 0.512000 111 298 3.29639e-60 3.89573e-60 1 1 0 HAS3 3038 broad.mit.edu 37 16 69143315 69143315 + Missense_Mutation SNP C C T rs140561541 byFrequency TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr16:69143315C>T ENST00000306560.1 + 2 173 c.17C>T c.(16-18)aCg>aTg p.T6M HAS3_ENST00000569188.1_Missense_Mutation_p.T6M|HAS3_ENST00000219322.3_Missense_Mutation_p.T6M NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 6 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) GTGCAGCTGACGACAGCCCTG 0.607000 4 32 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103908243 103908243 + Silent SNP C C T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr10:103908243C>T ENST00000278070.2 + 10 4554 c.4515C>T c.(4513-4515)tcC>tcT p.S1505S PPRC1_ENST00000370012.1_Silent_p.S472S|PPRC1_ENST00000413464.2_Silent_p.S1241S|PPRC1_ENST00000489648.1_3'UTR NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1505 Arg-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCTCACGATCCCCATCCCCCC 0.562000 11 90 0 0 1 0 0 CYB5D1 124637 broad.mit.edu 37 17 7761468 7761468 + Silent SNP C C T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr17:7761468C>T ENST00000332439.4 + 1 168 c.16C>T c.(16-18)Ctg>Ttg p.L6L LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000571846.1_Silent_p.L6L|CYB5D1_ENST00000570446.1_Silent_p.L6L|LSMD1_ENST00000570555.1_Intron NM_144607.4 NP_653208.2 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 6 heme binding breast(1)|endometrium(1)|large_intestine(2)|skin(2) 6 all_cancers(10;0.11)|Prostate(122;0.219) GCGCCGGGGCCTGGTGGCTGG 0.587000 25 63 0 0 1 0 0 RP11-1277A3.2 0 broad.mit.edu 37 5 177059130 177059130 + RNA SNP T T G rs6886539 by1000genomes TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr5:177059130T>G ENST00000515045.1 - 0 798 NR_026921.1 CTTGAGGTGGTTGAGTTAGAG 0.542000 3 24 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 4 69 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144548018 144548018 + Splice_Site SNP T T A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr8:144548018T>A ENST00000262577.5 - 9 2207 c.2175_splice c.e9-1 p.M726_splice NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 726 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CACACCGGCATCTGCAGGGAG 0.652000 3 17 0 0 1 0 0 ALG10B 144245 broad.mit.edu 37 12 38714267 38714267 + Missense_Mutation SNP G G T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr12:38714267G>T ENST00000308742.4 + 3 990 c.674G>T c.(673-675)gGa>gTa p.G225V ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 225 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity p.G225V(1) breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CCTATTAAAGGACCATTTGCA 0.393000 8 138 1.12685e-05 1.22075e-05 1 1 0 CHCHD2 51142 broad.mit.edu 37 7 56172116 56172116 + Missense_Mutation SNP G G T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr7:56172116G>T ENST00000395422.3 - 2 265 c.103C>A c.(103-105)Cca>Aca p.P35T NM_016139.2 NP_057223.1 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 2 35 mitochondrion endometrium(1)|large_intestine(1)|lung(3) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCCGCTGCTGGTGGCTGAGCG 0.597000 4 10 0.150653 0.154618 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 22 47 0 0 1 0 0 RGS18 64407 broad.mit.edu 37 1 192150498 192150498 + Silent SNP A A G TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr1:192150498A>G ENST00000367460.3 + 4 541 c.360A>G c.(358-360)gaA>gaG p.E120E NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 120 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TAGCCTGTGAAGATTTCAAGA 0.313000 3 35 0 0 1 0 0 DDX47 51202 broad.mit.edu 37 12 12977586 12977586 + Missense_Mutation SNP A A G rs142329297 byFrequency TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr12:12977586A>G ENST00000358007.3 + 9 1032 c.1010A>G c.(1009-1011)aAc>aGc p.N337S RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.N288S NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 337 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) GTGGTTGTCAACTTTGACATT 0.433000 4 85 0 0 1 0 0 AC027612.3 0 broad.mit.edu 37 2 91899626 91899627 + RNA DEL AA AA - TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr2:91899626_91899627delAA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAAA 0.287 3 3 --- --- --- --- BSN 8927 broad.mit.edu 37 3 49691425 49691426 + Frame_Shift_Del DEL CT CT - TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr3:49691425_49691426delCT ENST00000296452.4 + 5 4550_4551 c.4436_4437delCT c.(4435-4437)cfs p.P1479fs NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1479 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCCAGCCCACCTCTCTCCCCGT 0.609 29 92 --- --- --- --- MYH15 22989 broad.mit.edu 37 3 108102490 108102490 + Frame_Shift_Del DEL T T - TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr3:108102490delT ENST00000273353.3 - 41 5834 c.5778delA c.(5776-5778)gafs p.E1926fs NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1926 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TGACTTGAGATTCTGCCACCT 0.348 20 84 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 7 108 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 7 235 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030245 136030245 + RNA DEL T T - TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chrX:136030245delT ENST00000424306.1 + 0 2052 GAGAACCTGCTTTTTTTTTTT 0.438 3 3 --- --- --- ---