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 CPNE9 151835 broad.mit.edu 37 3 9754692 9754692 + Missense_Mutation SNP A A C TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr3:9754692A>C ENST00000383832.3 + 10 769 c.579A>C c.(577-579)aaA>aaC p.K193N CPNE9_ENST00000383831.3_Missense_Mutation_p.K193N NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 193 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) AGGTTGTGAAAAACACGCTGA 0.527 6 19 --- --- --- --- BCHE 590 broad.mit.edu 37 3 165491285 165491285 + Missense_Mutation SNP T T A TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr3:165491285T>A ENST00000264381.3 - 4 1860 c.1694A>T c.(1693-1695)gAt>gTt p.D565V BCHE_ENST00000540653.1_Missense_Mutation_p.D27V NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 565 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TTCTGCTTCATCAATATTTCC 0.303 20 52 --- --- --- --- C6 729 broad.mit.edu 37 5 41172406 41172406 + Silent SNP T T A TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr5:41172406T>A ENST00000263413.3 - 9 1476 c.1212A>T c.(1210-1212)acA>acT p.T404T C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T404T NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 404 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CGCGTTTCTTTGTTTCAATCC 0.403 5 53 --- --- --- --- AGGF1 55109 broad.mit.edu 37 5 76332448 76332448 + Missense_Mutation SNP G G A TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr5:76332448G>A ENST00000312916.7 + 4 966 c.584G>A c.(583-585)aGa>aAa p.R195K NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 195 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) GAAAGTTTGAGAGCTGCAGCA 0.393 4 141 --- --- --- --- ZSCAN16 80345 broad.mit.edu 37 6 28097612 28097612 + Nonsense_Mutation SNP C C T TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr6:28097612C>T ENST00000340487.4 + 4 1080 c.931C>T c.(931-933)Cag>Tag p.Q311* ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA NM_025231.1 NP_079507.1 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 311 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TATTCAGCATCAGAGAATCCA 0.423 5 48 --- --- --- --- BACH2 60468 broad.mit.edu 37 6 90660405 90660405 + Missense_Mutation SNP G G A TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr6:90660405G>A ENST00000257749.4 - 7 2127 c.1420C>T c.(1420-1422)Ctc>Ttc p.L474F BACH2_ENST00000343122.3_Missense_Mutation_p.L474F|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 474 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GAGCTGGGGAGGGACTGGCCG 0.617 17 31 --- --- --- --- CDK5RAP2 55755 broad.mit.edu 37 9 123215999 123215999 + Missense_Mutation SNP G G A TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr9:123215999G>A ENST00000349780.4 - 21 2707 c.2528C>T c.(2527-2529)tCc>tTc p.S843F CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 843 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 ATGTGGCTTGGAAAATGAGTT 0.458 5 127 --- --- --- --- SORCS1 114815 broad.mit.edu 37 10 108431072 108431072 + Missense_Mutation SNP C C G TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr10:108431072C>G ENST00000263054.6 - 16 2119 c.2112G>C c.(2110-2112)gaG>gaC p.E704D SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 704 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TACACTTCCGCTCTGATTTTC 0.443 5 80 --- --- --- --- FGFR2 2263 broad.mit.edu 37 10 123325040 123325040 + Silent SNP G G A rs55806379 TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr10:123325040G>A ENST00000358487.5 - 3 560 c.288C>T c.(286-288)ggC>ggT p.G96G FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 96 Ig-like C2-type 1. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TAGGCGTGGCGCCCTTTATCT 0.522 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 6 123 --- --- --- --- LGR5 8549 broad.mit.edu 37 12 71978097 71978097 + Silent SNP C C A TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr12:71978097C>A ENST00000266674.5 + 18 2618 c.2307C>A c.(2305-2307)gcC>gcA p.A769A LGR5_ENST00000540815.2_Silent_p.A745A|LGR5_ENST00000536515.1_Silent_p.A697A O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 769 integral to plasma membrane protein-hormone receptor activity p.A769A(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 AACACATTGCCCTGTTGCTCT 0.433 24 85 --- --- --- --- VPS29 51699 broad.mit.edu 37 12 110930973 110930973 + Missense_Mutation SNP C C T TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr12:110930973C>T ENST00000549578.1 - 3 324 c.259G>A c.(259-261)Gga>Aga p.G87R VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G119R|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.G91R NM_016226.3 NP_057310.1 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 homolog (S. cerevisiae) 87 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 ACTTGATGTCCATGGATCAGA 0.383 3 46 --- --- --- --- THSD1 55901 broad.mit.edu 37 13 52951824 52951824 + Missense_Mutation SNP G G A TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr13:52951824G>A ENST00000349258.4 - 4 2666 c.2122C>T c.(2122-2124)Cgg>Tgg p.R708W THSD1_ENST00000258613.4_Missense_Mutation_p.R761W|THSD1_ENST00000544466.1_Missense_Mutation_p.R382W NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 761 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GACGGTCCCCGACGAGCTCTG 0.552 13 106 --- --- --- --- ARNT2 9915 broad.mit.edu 37 15 80806707 80806707 + Missense_Mutation SNP G G C TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr15:80806707G>C ENST00000533983.1 + 9 1144 c.805G>C c.(805-807)Gtc>Ctc p.V269L ARNT2_ENST00000527771.1_Missense_Mutation_p.V269L|ARNT2_ENST00000303329.4_Missense_Mutation_p.V280L Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 280 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) ATATGCTGTGGTCCACTGTAC 0.488 55 121 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3817735 3817735 + Missense_Mutation SNP T T C TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr16:3817735T>C ENST00000262367.5 - 16 4045 c.3236A>G c.(3235-3237)cAg>cGg p.Q1079R CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1079 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TTTGCGCGGCTGCGAAGGAGA 0.418 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 110 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028138 55028138 + Missense_Mutation SNP A A C TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr17:55028138A>C ENST00000240316.4 - 2 499 c.465T>G c.(463-465)gaT>gaG p.D155E NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 155 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TGACAGTCTGATCTGTGACAG 0.388 4 165 --- --- --- --- POU2F2 5452 broad.mit.edu 37 19 42597984 42597984 + Missense_Mutation SNP T T G TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr19:42597984T>G ENST00000389341.5 - 12 1213 c.1147A>C c.(1147-1149)Aca>Cca p.T383P POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000560398.1_Missense_Mutation_p.T405P|POU2F2_ENST00000526816.2_Missense_Mutation_p.T399P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 399 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) CCCTGACCTGTTGTGCTCAGA 0.607 5 142 --- --- --- --- POU2F2 5452 broad.mit.edu 37 19 42597985 42597985 + Silent SNP T T C TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr19:42597985T>C ENST00000389341.5 - 12 1212 c.1146A>G c.(1144-1146)acA>acG p.T382T POU2F2_ENST00000533720.1_Silent_p.T382T|POU2F2_ENST00000529952.1_Silent_p.T398T|POU2F2_ENST00000529067.1_Silent_p.T382T|POU2F2_ENST00000560398.1_Silent_p.T404T|POU2F2_ENST00000526816.2_Silent_p.T398T|POU2F2_ENST00000342301.4_Silent_p.T398T|POU2F2_ENST00000560558.1_Silent_p.T343T NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 398 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) CCTGACCTGTTGTGCTCAGAC 0.612 5 141 --- --- --- --- PNMAL2 57469 broad.mit.edu 37 19 46997772 46997772 + Silent SNP C C T TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr19:46997772C>T ENST00000599531.1 - 1 1983 c.951G>A c.(949-951)caG>caA p.Q317Q AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 317 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCCCACTTTCCTGCGAGTCGC 0.597 10 86 --- --- --- --- DEFB118 117285 broad.mit.edu 37 20 29960700 29960700 + Missense_Mutation SNP C C G TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr20:29960700C>G ENST00000253381.2 + 2 132 c.99C>G c.(97-99)caC>caG p.H33Q NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 33 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GATCAGGGCACTGCAGGAAAC 0.418 4 43 --- --- --- --- SH3TC2 79628 broad.mit.edu 37 5 148407722 148407722 + Frame_Shift_Del DEL A A - TCGA-J4-A83K-01A-11D-A34U-08 TCGA-J4-A83K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d93fb9-005b-4fc2-9c1d-409da6817ba8 03fd3a9c-8dae-4e30-9439-2c509bcaae9c g.chr5:148407722delA ENST00000538184.1 - 7 1102 c.214delT c.(214-216)tggfs p.W72fs SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs|SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs|SH3TC2_ENST00000515425.1_Frame_Shift_Del_p.W525fs Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 525 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATGGGCCCAGGTCATGTGG 0.547 55 86 --- --- --- ---