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 DLGAP2 9228 broad.mit.edu 37 8 1649537 1649537 + Missense_Mutation SNP G G A TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr8:1649537G>A uc003wpl.3 + 11 2990 c.2893G>A c.(2893-2895)Gag>Aag p.E965K DLGAP2_uc003wpm.3_Missense_Mutation_p.E951K NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 1044 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.E973K(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGACAGCATCGAGATCTACAT 0.716000 4 4 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36475299 36475299 + Silent SNP G G A TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr6:36475299G>A uc003omg.3 - 6 1338 c.750C>T c.(748-750)aaC>aaT p.N250N STK38_uc003omh.3_Silent_p.N250N|STK38_uc003omi.3_Silent_p.N250N NM_007271 NP_009202 Q15208 STK38_HUMAN Homo sapiens serine/threonine kinase 38 (STK38), mRNA. 250 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity MLL5-L complex|cytoplasm ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAGGCTGTGGTTCAGATTCC 0.418000 114 171 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153296900 153296900 + Splice_Site SNP G G A rs61748382 TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chrX:153296900G>A uc004fjw.2 - 3 480 c.414_splice c.e3-1 p.N138_splice MECP2_uc004fjv.2_Splice_Site_p.N126_splice NM_001110792 NP_001104262 P51608 MECP2_HUMAN Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 2, mRNA. 126 MBD. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTTCCCTGGGGACTGTGGGGA 0.488000 8 73 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4839991 4839991 + Missense_Mutation SNP G G T TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr20:4839991G>T uc002wlg.1 - 15 2039 c.1664C>A c.(1663-1665)aCa>aAa p.T555K SLC23A2_uc010zqr.1_Missense_Mutation_p.T440K|SLC23A2_uc002wlh.1_Missense_Mutation_p.T555K NM_005116 NP_976072 Q9UGH3 S23A2_HUMAN Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA. 555 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CATAGCAGTTGTGAGAAGGAC 0.433000 36 85 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100189586 100189586 + Missense_Mutation SNP G G A TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chr10:100189586G>A uc021pwv.1 - 8 1075 c.829C>T c.(829-831)Cac>Tac p.H277Y HPS1_uc009xwb.3_Intron|HPS1_uc010qph.1_Missense_Mutation_p.H277Y|HPS1_uc001kpl.3_Missense_Mutation_p.H277Y NM_000195 NP_000186 Q92902 HPS1_HUMAN Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA. 277 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CCCGTGGAGTGAGGGCTCCAG 0.677000 Hermansky-Pudlak syndrome 7 90 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103498972 103498972 + Silent SNP C C T TCGA-FY-A2QD-01A-11D-A19J-08 TCGA-FY-A2QD-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7335a24-e5fc-4558-9eba-511c5a802320 7aeb39cd-79b5-4b8b-b801-9ea170d402c5 g.chrX:103498972C>T uc004ely.3 - 1 438 c.369G>A c.(367-369)ccG>ccA p.P123P NM_153448 NP_703149 Q8N693 ESX1_HUMAN Homo sapiens ESX homeobox 1 (ESX1), mRNA. 123 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GCCCCTCCGCCGGCTGTGGCC 0.682000 8 50 0 0 1 0 0