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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 48 0 0 0.115264 0 0 ETF1 2107 broad.mit.edu 37 5 137878559 137878559 + Missense_Mutation SNP T T A TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr5:137878559T>A ENST00000360541.5 - 2 270 c.49A>T c.(49-51)Atc>Ttc p.I17F ETF1_ENST00000499810.2_5'UTR NM_004730.3 NP_004721.1 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 17 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific p.I17V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCTTCTTGATCTTCCAGATC 0.677000 3 28 0 0 0.150653 0 0 ELOVL1 64834 broad.mit.edu 37 1 43829648 43829648 + Missense_Mutation SNP C C T TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr1:43829648C>T ENST00000372458.3 - 8 896 c.779G>A c.(778-780)cGg>cAg p.R260Q ELOVL1_ENST00000413844.2_Missense_Mutation_p.R233Q|ELOVL1_ENST00000470769.1_5'UTR NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 260 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding p.R260Q(1) endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACGGGGCAGCCGCTTGCCCTT 0.512000 3 63 0 0 0.150653 0 0 THAP11 57215 broad.mit.edu 37 16 67876808 67876808 + Silent SNP G G A TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr16:67876808G>A ENST00000303596.1 + 1 596 c.351G>A c.(349-351)caG>caA p.Q117Q CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 117 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) agcagcaacagcagcagcagc 0.667000 4 117 0 0 0.150653 0 0 OR5H1 26341 broad.mit.edu 37 3 97851900 97851900 + Missense_Mutation SNP A A G TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr3:97851900A>G ENST00000354565.2 + 1 359 c.359A>G c.(358-360)tAt>tGt p.Y120C RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 ACGATGGCATATGATCGCTAT 0.393000 4 195 0 0 0.278610 0 0 GLCCI1 113263 broad.mit.edu 37 7 8062180 8062180 + Missense_Mutation SNP G G A TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr7:8062180G>A ENST00000223145.5 + 3 1234 c.677G>A c.(676-678)aGt>aAt p.S226N GLCCI1_ENST00000474269.1_3'UTR NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 226 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TCATGGGGGAGTGCTGATCAA 0.373000 9 44 0 0 0.361761 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 3 40 0 0 0.248553 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38645343 38645343 + RNA SNP C C T rs75687299 by1000genomes TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr10:38645343C>T ENST00000494540.1 + 0 36 NR_003086.1 AAAGCAGCGGCGGCGTTTGCT 0.597000 6 18 0 0 0.307466 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 22 0 0 0.150653 0 0 C2orf42 54980 broad.mit.edu 37 2 70408639 70408639 + Missense_Mutation SNP T T C TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr2:70408639T>C ENST00000264434.2 - 3 858 c.479A>G c.(478-480)cAg>cGg p.Q160R C2orf42_ENST00000420306.1_Missense_Mutation_p.Q160R NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 160 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CGGGGAGGCCTGCATTGCATT 0.562000 3 78 0 0 0.115264 0 0 NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 7 99 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 7 39 --- --- --- --- IGHV3-53 0 broad.mit.edu 37 14 107049128 107049129 + RNA DEL CC CC - TCGA-DJ-A3UZ-01A-11D-A22Z-08 TCGA-DJ-A3UZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae85c0d-26ad-4f05-a3cf-0d5f786135ac 2ee5b1de-ff12-4dbc-818f-3bf5d425297d g.chr14:107049128_107049129delCC ENST00000390627.2 - 0 212_213 CATGGTGAGTCCTCTGTGTTCA 0.500 7 262 --- --- --- ---