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 ENST00000428879.1 - 7 1252 c.748C>T c.(748-750)Cga>Tga p.R250* MMADHC_ENST00000303319.5_Nonsense_Mutation_p.R250*|MMADHC_ENST00000422782.2_Nonsense_Mutation_p.R284* Q9H3L0 MMAD_HUMAN methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 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 0.115264 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes 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.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 3 39 0 0 0.150653 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 ENST00000381883.2 + 1 441 c.363G>C c.(361-363)gcG>gcC p.A121A SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000223517.5_Intron NM_203453.3 NP_982278.3 Q8IY26 PPAC2_HUMAN phosphatidic acid phosphatase type 2 domain containing 2 121 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 0.479597 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes 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.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 35 0 0 0.150653 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A 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.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 3 208 0 0 0.115264 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 ENST00000336470.4 + 14 1554 c.1415A>T c.(1414-1416)gAt>gTt p.D472V GNL3L_ENST00000360845.2_Missense_Mutation_p.D472V NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 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 0.217242 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A 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.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 37 0 0 0.248553 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 ENST00000314191.2 - 45 6012 c.5956delC c.(5956-5958)gcfs p.R1986fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R1986fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 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 --- --- --- --- CELP 0 broad.mit.edu 37 9 135962465 135962465 + RNA DEL T T - rs63239560 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.chr9:135962465delT ENST00000411440.2 + 0 972 NR_001275.2 AGGATGCCCCTGTGCCCCTCA 0.677 3 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes 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.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 3 4 --- --- --- ---