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 MMADHC 27249 broad.mit.edu 37 2 150426631 150426631 + Nonsense_Mutation SNP G G A rs118204048 TCGA-EL-A3H3-01A-11D-A202-08 TCGA-EL-A3H3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59a10c8a-5ba5-40f2-a72b-4febca3f8871 fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa g.chr2:150426631G>A uc002txc.3 - 7 953 c.748C>T c.(748-750)Cga>Tga p.R250* NM_015702 NP_056517 Q9H3L0 MMAD_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, mRNA. 250 mitochondrion breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2) 11 CCTAAATGTCGGTAGCGTTCA 0.368000 3 42 0 0 1 0 0 PPAPDC2 403313 broad.mit.edu 37 9 4662738 4662738 + Silent SNP G G C TCGA-EL-A3H3-01A-11D-A202-08 TCGA-EL-A3H3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59a10c8a-5ba5-40f2-a72b-4febca3f8871 fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa g.chr9:4662738G>C uc003zin.3 + 0 441 c.363G>C c.(361-363)gcG>gcC p.A121A SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron NM_203453 NP_982278 Q8IY26 PPAC2_HUMAN Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA. 121 integral to membrane hydrolase activity endometrium(1)|large_intestine(2)|lung(1) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.026) GGGTGTGCGCGGGAGAGAGCT 0.657000 OREG0019084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 32 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54581094 54581094 + Missense_Mutation SNP A A T TCGA-EL-A3H3-01A-11D-A202-08 TCGA-EL-A3H3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59a10c8a-5ba5-40f2-a72b-4febca3f8871 fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa g.chrX:54581094A>T uc022bxi.1 + 13 1671 c.1415A>T c.(1414-1416)gAt>gTt p.D472V GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.D472V NM_001184819 NP_061940 Q9NVN8 GNL3L_HUMAN Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA. 472 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 AAAATAGCAGATGCCATTGAA 0.483000 4 78 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48774649 48774649 + Frame_Shift_Del DEL G G - TCGA-EL-A3H3-01A-11D-A202-08 TCGA-EL-A3H3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59a10c8a-5ba5-40f2-a72b-4febca3f8871 fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa g.chr8:48774649delG uc003xqi.3 - 44 6013 c.5956delC c.(5956-5958)cgcfs p.R1986fs PRKDC_uc003xqj.3_Frame_Shift_Del_p.R1986fs NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 1987 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAATTATAGCGGCGCTTCAGG 0.323 Non-homologous end-joining 2 4 --- --- --- ---