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 LHX8 431707 broad.mit.edu 37 1 75602926 75602926 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr1:75602926G>A ENST00000294638.5 + 4 911 c.247G>A c.(247-249)Gtg>Atg p.V83M LHX8_ENST00000356261.3_Missense_Mutation_p.V73M|LHX8_ENST00000559413.1_3'UTR NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 83 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CCTGGAGATCGTGGACAAATA 0.647 11 14 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112081 76112081 + Silent SNP A A G TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr7:76112081A>G ENST00000324432.5 + 5 1035 c.525A>G c.(523-525)caA>caG p.Q175Q DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000430490.2_Silent_p.Q175Q NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 175 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 TGCGGCGCCAAGCAGGGCCGC 0.647 23 17 --- --- --- --- CPA2 1358 broad.mit.edu 37 7 129912964 129912964 + Missense_Mutation SNP A A C TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr7:129912964A>C ENST00000222481.4 + 5 488 c.433A>C c.(433-435)Agc>Cgc p.S145R NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 145 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TGGTCTAGTGAGCAAAGTGAA 0.453 14 49 --- --- --- --- DNAI1 27019 broad.mit.edu 37 9 34490062 34490062 + Silent SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr9:34490062C>T ENST00000242317.4 + 6 612 c.441C>T c.(439-441)gaC>gaT p.D147D DNAI1_ENST00000488369.1_3'UTR NM_001281428.1|NM_012144.2 NP_001268357.1|NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 147 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TCGAAGAAGACGAAGAGCCCA 0.488 Kartagener syndrome 12 13 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118773329 118773329 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr11:118773329G>A ENST00000334801.3 - 6 2087 c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 375 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCAGGGCCGGGGGCACTGCTG 0.692 9 23 --- --- --- --- CILP 8483 broad.mit.edu 37 15 65496880 65496880 + Missense_Mutation SNP G G C TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr15:65496880G>C ENST00000261883.4 - 6 811 c.645C>G c.(643-645)gaC>gaG p.D215E NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 215 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 AGGCATCACAGTCAGCATTCA 0.577 12 16 --- --- --- --- USP31 57478 broad.mit.edu 37 16 23080009 23080009 + Missense_Mutation SNP C C A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr16:23080009C>A ENST00000219689.7 - 16 3416 c.3417G>T c.(3415-3417)agG>agT p.R1139S USP31_ENST00000567975.1_Missense_Mutation_p.R432S NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1139 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGAAAGGGCTCCTTGTGGCAG 0.592 27 41 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50123646 50123646 + Silent SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr19:50123646G>A ENST00000418929.2 + 10 5547 c.5535G>A c.(5533-5535)gcG>gcA p.A1845A NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 1024 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AAACCAGGGCGATGCGGGAGA 0.587 3 6 --- --- --- ---