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 RP1 6101 broad.mit.edu 37 8 55541350 55541350 + Silent SNP C C T TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr8:55541350C>T ENST00000220676.1 + 4 5056 c.4908C>T c.(4906-4908)taC>taT p.Y1636Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1636 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAAAACTGTACGGTAAAGCAG 0.373000 5 96 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201982405 201982405 + Missense_Mutation SNP G G A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr1:201982405G>A ENST00000359651.3 + 6 3976 c.784G>A c.(784-786)Gag>Aag p.E262K ELF3_ENST00000367284.5_Missense_Mutation_p.E262K|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.E262K P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 262 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.E262*(1) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GGACTGTCTCGAGGGCAAGAA 0.632000 10 30 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65916168 65916168 + Missense_Mutation SNP T T G TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr17:65916168T>G ENST00000321892.4 + 15 5905 c.5844T>G c.(5842-5844)atT>atG p.I1948M BPTF_ENST00000306378.6_Missense_Mutation_p.I1822M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1809M|BPTF_ENST00000335221.5_Missense_Mutation_p.I1948M Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1948 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGAAATAATTAAGAGGAGAG 0.333000 4 101 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 45 0 0 1 0 0 C8orf33 65265 broad.mit.edu 37 8 146278159 146278159 + Missense_Mutation SNP G G A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr8:146278159G>A ENST00000331434.6 + 2 308 c.194G>A c.(193-195)gGc>gAc p.G65D NM_023080.2 NP_075568.1 Q9H7E9 CH033_HUMAN chromosome 8 open reading frame 33 65 endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) GATGAAGGCGGCACAGCGTCG 0.557000 3 55 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6085711 6085711 + Silent SNP A A C TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr7:6085711A>C ENST00000199389.6 - 6 767 c.621T>G c.(619-621)gtT>gtG p.V207V EIF2AK1_ENST00000536084.1_Silent_p.V83V|EIF2AK1_ENST00000495565.1_5'UTR NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 207 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CCTTCATGCAAACTGTTTTAG 0.254000 6 18 0 0 1 0 0 STXBP1 6812 broad.mit.edu 37 9 130434339 130434339 + Missense_Mutation SNP C C T TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr9:130434339C>T ENST00000373302.3 + 12 1112 c.973C>T c.(973-975)Cgg>Tgg p.R325W STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373299.1_Missense_Mutation_p.R325W NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 325 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 GACCACCATGCGGGACCTGTC 0.502000 3 52 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409427 105409427 + Silent SNP G G A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr14:105409427G>A ENST00000333244.5 - 7 12480 c.12361C>T c.(12361-12363)Ctg>Ttg p.L4121L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4121 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGTCGGCCAGGGACAGGTCC 0.587000 8 409 0 0 1 0 0 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr6:111346773T>A ENST00000441448.2 + 10 1001 c.909T>A c.(907-909)atT>atA p.I303I NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 303 nucleolus protein binding p.I303I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 CAAAAAGAATTAAAAAAAATT 0.368000 5 24 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760448 54760448 + Missense_Mutation SNP A A T TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr19:54760448A>T ENST00000450632.1 - 3 336 c.259T>A c.(259-261)Tcc>Acc p.S87T LILRB5_ENST00000345866.6_Missense_Mutation_p.S87T|LILRB5_ENST00000316219.5_Missense_Mutation_p.S87T|LILRB5_ENST00000449561.2_Missense_Mutation_p.S87T O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 87 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TACACCGTGGATGGAATGTGG 0.607000 53 208 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79580907 79580907 + Missense_Mutation SNP C C A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr10:79580907C>A ENST00000372391.2 - 15 3340 c.3335G>T c.(3334-3336)cGg>cTg p.R1112L DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1112 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AGATTTTGGCCGGCGACGCTT 0.602000 7 36 1.12685e-05 1.19728e-05 1 1 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197281 39197281 + Silent SNP G G A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr17:39197281G>A ENST00000306271.4 - 1 432 c.369C>T c.(367-369)tgC>tgT p.C123C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 123 extracellular region|keratin filament NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CCTCCACACGGCAGTCTGGGC 0.677000 7 26 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132266282 132266282 + RNA DEL G G - rs74537446 TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr2:132266282delG ENST00000438378.2 + 0 1234 NR_026922.1 GCTGGATGGTGGGAAGCAGAA 0.547 4 5 --- --- --- ---