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 OR2B2 81697 broad.mit.edu 37 6 27879286 27879286 + Missense_Mutation SNP C C T TCGA-EL-A3D4-01A-11D-A19J-08 TCGA-EL-A3D4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7162382d-c791-45d4-9679-95ec9989906f 02eb2729-233e-41ad-a43b-274267b89d3e g.chr6:27879286C>T uc011dkw.2 - 0 889 c.812G>A c.(811-813)gGa>gAa p.G271E NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AACCATCTTTCCCCGGTCTTT 0.443000 5 84 0 0 1 0 0 MPDU1 9526 broad.mit.edu 37 17 7495766 7495766 + Silent SNP G G A TCGA-EL-A3D4-01A-11D-A19J-08 TCGA-EL-A3D4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7162382d-c791-45d4-9679-95ec9989906f 02eb2729-233e-41ad-a43b-274267b89d3e g.chr17:7495766G>A uc010vuc.1 + 5 753 c.537G>A c.(535-537)gtG>gtA p.V179V SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank|FXR2_uc002gia.2_Intron O75352 MPU1_HUMAN Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), transcript variant 1, mRNA. 0 PQ-loop 2. dolichol-linked oligosaccharide biosynthetic process|protein folding endoplasmic reticulum membrane|integral to membrane|mitochondrion protein binding central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1) 7 TCACAGGGGTGAGCATCCCAT 0.532000 15 108 0 0 1 0 0 CCDC144B 284047 broad.mit.edu 37 17 18483593 18483593 + RNA SNP C C T TCGA-EL-A3D4-01A-11D-A19J-08 TCGA-EL-A3D4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7162382d-c791-45d4-9679-95ec9989906f 02eb2729-233e-41ad-a43b-274267b89d3e g.chr17:18483593C>T uc002gua.4 - 11 c.2918G>A Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA. NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CAGTCTACAACGGTATGATTC 0.413000 5 40 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125288964 125288964 + Silent SNP G G A TCGA-EL-A3D4-01A-11D-A19J-08 TCGA-EL-A3D4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7162382d-c791-45d4-9679-95ec9989906f 02eb2729-233e-41ad-a43b-274267b89d3e g.chr9:125288964G>A uc004bmn.1 - 0 609 c.609C>T c.(607-609)acC>acT p.T203T NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA. 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CGATGAGTACGGTGCCTCCCA 0.507000 7 41 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5812998 5812998 + Silent SNP T T C TCGA-EL-A3D4-01A-11D-A19J-08 TCGA-EL-A3D4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7162382d-c791-45d4-9679-95ec9989906f 02eb2729-233e-41ad-a43b-274267b89d3e g.chr9:5812998T>C uc003zjm.1 - 4 966 c.912A>G c.(910-912)tcA>tcG p.S304S ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Silent_p.S304S NM_024896 NP_079172 Q7Z2K6 ERMP1_HUMAN Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA. 304 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) GTTTAGCTGCTGAAACATAAG 0.388000 37 51 0 0 1 0 0 RBM15B 29890 broad.mit.edu 37 3 51429678 51429678 + Missense_Mutation SNP C C T TCGA-EL-A3D4-01A-11D-A19J-08 TCGA-EL-A3D4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7162382d-c791-45d4-9679-95ec9989906f 02eb2729-233e-41ad-a43b-274267b89d3e g.chr3:51429678C>T uc003dbd.3 + 0 980 c.848C>T c.(847-849)gCc>gTc p.A283V NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA. 283 RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm RNA binding|nucleotide binding|protein binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) cgtcacgccgccgcagccttc 0.746000 4 12 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65144052 65144052 + Missense_Mutation SNP C C T TCGA-EL-A3D4-01A-11D-A19J-08 TCGA-EL-A3D4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7162382d-c791-45d4-9679-95ec9989906f 02eb2729-233e-41ad-a43b-274267b89d3e g.chr11:65144052C>T uc001odr.1 - 6 897 c.693G>A c.(691-693)atG>atA p.M231I SLC25A45_uc009yqi.1_Missense_Mutation_p.M169I|SLC25A45_uc001odq.1_Missense_Mutation_p.M207I|SLC25A45_uc001ods.1_Missense_Mutation_p.M189I|SLC25A45_uc001odt.1_Missense_Mutation_p.M189I NM_182556 NP_001070709 Q8N413 S2545_HUMAN Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA. 231 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 TCAGTCCATCCATCTGCATCC 0.617000 33 67 0 0 1 0 0