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 SLC35D2 11046 broad.mit.edu 37 9 99083567 99083567 + Missense_Mutation SNP T T C TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr9:99083567T>C uc004awc.3 - 11 1047 c.971A>G c.(970-972)aAa>aGa p.K324R SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Missense_Mutation_p.K236R NM_007001 NP_008932 Q76EJ3 S35D2_HUMAN Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA. 324 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) ACCCACAGGTTTAGGTTTTAA 0.448000 6 68 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108200988 108200988 + Missense_Mutation SNP T T C TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr11:108200988T>C uc001pkb.1 + 49 7740 c.7355T>C c.(7354-7356)cTg>cCg p.L2452P ATM_uc009yxr.1_Missense_Mutation_p.L2452P|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.L1104P|ATM_uc001pkg.1_Missense_Mutation_p.L809P NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 2452 FAT. DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAATTAGCCCTGCGTGCACTG 0.373000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 3 67 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5418798 5418798 + Missense_Mutation SNP C C T TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr17:5418798C>T uc002gci.3 - 15 4652 c.4097G>A c.(4096-4098)cGc>cAc p.R1366H NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Missense_Mutation_p.R1322H|NLRP1_uc002gck.3_Missense_Mutation_p.R1322H|NLRP1_uc002gcj.3_Missense_Mutation_p.R1336H|NLRP1_uc002gcl.3_Missense_Mutation_p.R1292H NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 1366 R -> C (in dbSNP:rs2137722). defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CTGACCTATGCGGGCTGGAGG 0.507000 4 70 0 0 1 0 0