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 EIF1AX 1964 broad.mit.edu 37 X 20156732 20156732 + Missense_Mutation SNP C C G TCGA-EM-A2CL-01A-11D-A17V-08 TCGA-EM-A2CL-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ede121e-331f-434e-a551-ffc6fc01ce0b 49a37ba7-1dd0-4758-bcf0-49e779511d7f g.chrX:20156732C>G uc004czt.3 - 1 233 c.25G>C c.(25-27)Ggt>Cgt p.G9R SCARNA9L_uc010nfp.3_5'Flank NM_001412 NP_001403 P47813 IF1AX_HUMAN Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA. 9 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 CTGTTTTTACCTCCTTTACCT 0.313000 62 14 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263034 248263034 + Silent SNP C C T TCGA-EM-A2CL-01A-11D-A17V-08 TCGA-EM-A2CL-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ede121e-331f-434e-a551-ffc6fc01ce0b 49a37ba7-1dd0-4758-bcf0-49e779511d7f g.chr1:248263034C>T uc001ids.3 + 2 694 c.357C>T c.(355-357)taC>taT p.Y119Y OR2L13_uc021pmc.1_Silent_p.Y119Y NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.Y119Y(3)|p.A118E(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCATGGCCTACGACCGTTATT 0.512000 37 161 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74708936 74708936 + Missense_Mutation SNP G G C TCGA-EM-A2CL-01A-11D-A17V-08 TCGA-EM-A2CL-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ede121e-331f-434e-a551-ffc6fc01ce0b 49a37ba7-1dd0-4758-bcf0-49e779511d7f g.chr15:74708936G>C uc002axv.3 - 6 821 c.781C>G c.(781-783)Cgt>Ggt p.R261G SEMA7A_uc010ulk.2_Missense_Mutation_p.R96G|SEMA7A_uc010ull.2_Missense_Mutation_p.R247G NM_003612 NP_001139502 O75326 SEM7A_HUMAN Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA. 261 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 TGGGCCACACGGGACACATTG 0.557000 3 62 0 0 1 0 0 GABRR2 2570 broad.mit.edu 37 6 89967652 89967652 + Missense_Mutation SNP C C G TCGA-EM-A2CL-01A-11D-A17V-08 TCGA-EM-A2CL-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ede121e-331f-434e-a551-ffc6fc01ce0b 49a37ba7-1dd0-4758-bcf0-49e779511d7f g.chr6:89967652C>G uc003pnb.2 - 8 1218 c.1210G>C c.(1210-1212)Gga>Cga p.G404R GABRR2_uc011dzx.1_Missense_Mutation_p.G280R NM_002043 NP_002034 P28476 GBRR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA. 404 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.Q404R(1) central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) CTGTAGCTTCCATCCAGCATC 0.502000 11 23 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492567 74492567 + Missense_Mutation SNP T T C TCGA-EM-A2CL-01A-11D-A17V-08 TCGA-EM-A2CL-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ede121e-331f-434e-a551-ffc6fc01ce0b 49a37ba7-1dd0-4758-bcf0-49e779511d7f g.chr1:74492567T>C uc001dfy.4 - 7 1997 c.1805A>G c.(1804-1806)gAt>gGt p.D602G LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 602 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TGTTTTAGCATCTTGAAGTCT 0.313000 10 18 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512289 61512289 + Silent SNP C C G TCGA-EM-A2CL-01A-11D-A17V-08 TCGA-EM-A2CL-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ede121e-331f-434e-a551-ffc6fc01ce0b 49a37ba7-1dd0-4758-bcf0-49e779511d7f g.chr20:61512289C>G uc002ydr.2 - 15 5331 c.5019G>C c.(5017-5019)ccG>ccC p.P1673P DIDO1_uc002yds.2_Silent_p.P1673P NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1673 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGCTGCAGCGGGAAGCCGG 0.697000 3 32 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100327958 100327958 + Missense_Mutation SNP C C T TCGA-EM-A2CL-01A-11D-A17V-08 TCGA-EM-A2CL-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ede121e-331f-434e-a551-ffc6fc01ce0b 49a37ba7-1dd0-4758-bcf0-49e779511d7f g.chr1:100327958C>T uc001dsi.1 + 3 839 c.439C>T c.(439-441)Ctt>Ttt p.L147F AGL_uc001dsj.1_Missense_Mutation_p.L147F|AGL_uc001dsk.1_Missense_Mutation_p.L147F|AGL_uc001dsl.1_Missense_Mutation_p.L147F|AGL_uc001dsm.1_Missense_Mutation_p.L131F|AGL_uc001dsn.1_Missense_Mutation_p.L130F NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 147 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GGAAAGCAGACTTAGGGTTGC 0.343000 64 58 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56350266 56350266 + Frame_Shift_Del DEL G G - TCGA-EM-A2CL-01A-11D-A17V-08 TCGA-EM-A2CL-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ede121e-331f-434e-a551-ffc6fc01ce0b 49a37ba7-1dd0-4758-bcf0-49e779511d7f g.chr17:56350266delG uc002ivu.1 - 9 1812 c.1635delC c.(1633-1635)cccfs p.P545fs NM_000250 NP_000241 P05164 PERM_HUMAN Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA. 545 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) CCCGGAGGATGGGGTCAATGC 0.572 98 122 --- --- --- ---