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 SSPO 23145 broad.mit.edu 37 7 149493511 149493511 + RNA SNP G G A TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr7:149493511G>A ENST00000378016.2 + 0 6587 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTTTCGGCCGCATGGTGCAG 0.607000 4 103 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 68 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52696223 52696223 + Missense_Mutation SNP C C A TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr3:52696223C>A ENST00000356770.4 - 4 456 c.454G>T c.(454-456)Gtt>Ttt p.V152F PBRM1_ENST00000409057.1_Missense_Mutation_p.V152F|PBRM1_ENST00000410007.1_Missense_Mutation_p.V152F|PBRM1_ENST00000296302.7_Missense_Mutation_p.V152F|PBRM1_ENST00000337303.4_Missense_Mutation_p.V152F|PBRM1_ENST00000409767.1_Missense_Mutation_p.V152F|PBRM1_ENST00000409114.3_Missense_Mutation_p.V152F|PBRM1_ENST00000394830.3_Missense_Mutation_p.V152F Q86U86 PB1_HUMAN polybromo 1 152 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CCTTTCTGAACAAACTCATTT 0.408000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 6 120 0.217242 0.217242 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 55 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 3 27 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 4 58 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 3 27 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26743709 26743709 + Missense_Mutation SNP C C T TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr22:26743709C>T ENST00000529632.2 + 11 2433 c.2237C>T c.(2236-2238)tCg>tTg p.S746L SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S746L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 746 Sushi 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GACTCCTGCTCGGATTTACCC 0.517000 5 46 0 0 1 0 0 PSG8 0 broad.mit.edu 37 19 43359755 43359755 + Missense_Mutation SNP G G T rs139331950 by1000genomes TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr19:43359755G>T ENST00000401467.2 - 1 88 c.17C>A c.(16-18)gCc>gAc p.A6D PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 6 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCAGGGAGGGGCTGAGAGGGG 0.577000 5 105 0.0215528 0.0225791 1 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 7 338 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 3 71 0 0 1 0 0 MIR371B 0 broad.mit.edu 37 19 54290977 54290977 + RNA SNP G G A TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr19:54290977G>A ENST00000595160.1 - 0 319 MIR371A_ENST00000362161.1_RNA NR_029864.1|NR_029865.1|NR_039909.1 TGAAAGTGCCGCCATCTTTTG 0.567000 4 46 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185627 39185627 + Splice_Site SNP C C T TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr3:39185627C>T ENST00000273153.5 - 4 958 c.e4+1 CSRNP1_ENST00000514182.1_Splice_Site NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 AGCCACCACACCTGGCACTTG 0.592000 5 47 0 0 1 0 0