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 CYR61 3491 broad.mit.edu 37 1 86047880 86047881 + In_Frame_Ins INS - TGG TGG TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr1:86047880_86047881insTGG uc001dle.2 + 3 771_772 c.547_548insTGG c.(547-549)CTG>CTGGTG p.183_184insV CYR61_uc001dlg.2_In_Frame_Ins_p.12_13insV|CYR61_uc009wcp.1_5'Flank NM_001554 NP_001545 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 precursor 183_184 cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1) 1 all cancers(265;0.0216)|Epithelial(280;0.0441) TGGCAAGGAGCTGGGATTCGAT 0.559 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NBPF9 400818 broad.mit.edu 37 1 144825409 144825409 + Missense_Mutation SNP G A A rs558823 TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr1:144825409G>A uc009wig.1 + 19 2211 c.2135G>A c.(2134-2136)GGT>GAT p.G712D NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.G637D|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.G513D|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.G372D NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 712 NBPF 5. cytoplasm 0 GACTCACTGGGTAGATGGTAT 0.493 PIGR 5284 broad.mit.edu 37 1 207110686 207110686 + Missense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr1:207110686C>T uc001hez.2 - 4 983 c.799G>A c.(799-801)GCC>ACC p.A267T PIGR_uc009xbz.2_Missense_Mutation_p.A267T NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 267 Ig-like V-type 3.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 AGAAATTTGGCCACGTTTGCC 0.592 LIN9 286826 broad.mit.edu 37 1 226426780 226426780 + Silent SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr1:226426780G>A uc001hqa.2 - 12 1495 c.1185C>T c.(1183-1185)CCC>CCT p.P395P LIN9_uc001hqb.2_Silent_p.P360P|LIN9_uc001hqc.2_Silent_p.P327P|LIN9_uc009xel.1_Silent_p.P360P NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 379 Potential. cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) CAATGCTGATGGGCATGGAAT 0.343 ADARB2 105 broad.mit.edu 37 10 1405297 1405297 + Missense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr10:1405297C>T uc009xhq.2 - 3 1377 c.1003G>A c.(1003-1005)GCA>ACA p.A335T NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 335 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TCCTGCAGTGCGGCCTGCGCG 0.746 FGFR2 2263 broad.mit.edu 37 10 123298220 123298220 + Missense_Mutation SNP G T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr10:123298220G>T uc010qtk.1 - 6 1281 c.634C>A c.(634-636)CAG>AAG p.Q212K FGFR2_uc010qtg.1_Missense_Mutation_p.Q212K|FGFR2_uc010qth.1_Missense_Mutation_p.Q97K|FGFR2_uc010qti.1_Missense_Mutation_p.Q123K|FGFR2_uc010qtj.1_Missense_Mutation_p.Q212K|FGFR2_uc010qtl.1_Missense_Mutation_p.Q212K|FGFR2_uc010qtm.1_Missense_Mutation_p.Q97K|FGFR2_uc001lfl.3_Missense_Mutation_p.Q212K|FGFR2_uc001lfm.2_Missense_Mutation_p.Q123K|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.Q231K|FGFR2_uc010qto.1_Missense_Mutation_p.Q116K|FGFR2_uc001lfo.1_Missense_Mutation_p.Q231K|FGFR2_uc010qtp.1_Missense_Mutation_p.Q231K|FGFR2_uc010qtq.1_Missense_Mutation_p.Q231K NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 212 Ig-like C2-type 2.|Extracellular (Potential). 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 binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.Q212K(1) endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 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) CTCCAGTGCTGGTTTCGTACC 0.418 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome SLC22A9 114571 broad.mit.edu 37 11 63141216 63141216 + Missense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr11:63141216C>T uc001nww.2 + 3 875 c.607C>T c.(607-609)CGC>TGC p.R203C SLC22A9_uc001nwx.2_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 203 Extracellular (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 CTGCTCACTACGCTTCTTGTC 0.458 TSKU 25987 broad.mit.edu 37 11 76506917 76506917 + Missense_Mutation SNP T G G TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr11:76506917T>G uc001oxt.2 + 2 429 c.257T>G c.(256-258)TTG>TGG p.L86W NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 86 LRR 2. extracellular region 0 Ovarian(111;0.112) TACACGACGTTGGCTGGCCTG 0.632 GPR19 2842 broad.mit.edu 37 12 12814147 12814155 + In_Frame_Del DEL ATTTGGTGG - - rs61733942 TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr12:12814147_12814155delATTTGGTGG uc001rar.3 - 2 1421_1429 c.1228_1236delCCACCAAAT c.(1228-1236)CCACCAAATdel p.PPN410del GPR19_uc001raq.2_In_Frame_Del_p.PPN410del NM_006143 NP_006134 Q15760 GPR19_HUMAN G protein-coupled receptor 19 410_412 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) AGACAAAAGTATTTGGTGGATTTGAGTTA 0.340 CDKN1B 1027 broad.mit.edu 37 12 12871093 12871093 + Missense_Mutation SNP A G G TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr12:12871093A>G uc001rat.2 + 1 792 c.320A>G c.(319-321)CAG>CGG p.Q107R NM_004064 NP_004055 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B 107 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity ovary(1)|lung(1) 2 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CAGGAGAGCCAGGATGTCAGC 0.642 Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4 ITGA7 3679 broad.mit.edu 37 12 56078847 56078847 + Missense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr12:56078847C>T uc001shh.2 - 25 3641 c.3421G>A c.(3421-3423)GCC>ACC p.A1141T ITGA7_uc001shg.2_Missense_Mutation_p.A1137T|ITGA7_uc010sps.1_Missense_Mutation_p.A1044T|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.A384T|ITGA7_uc009znx.2_Missense_Mutation_p.A1018T NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1181 Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 GGAACCTAGGCGGTGCCTGGC 0.697 ANKRD52 283373 broad.mit.edu 37 12 56639298 56639298 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr12:56639298G>A uc001skm.3 - 21 2357 c.2267C>T c.(2266-2268)ACG>ATG p.T756M NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 756 ANK 22. protein binding ovary(2) 2 GTGAATGGGCGTGCGGCCCTT 0.627 ACADS 35 broad.mit.edu 37 12 121176680 121176680 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr12:121176680G>A uc001tza.3 + 8 1109 c.991G>A c.(991-993)GCT>ACT p.A331T ACADS_uc010szl.1_Missense_Mutation_p.A327T|ACADS_uc001tzb.3_Missense_Mutation_p.A212T NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 331 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) GACCTGGCGCGCTGCCATGCT 0.637 WDR66 144406 broad.mit.edu 37 12 122437781 122437781 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr12:122437781G>A uc009zxk.2 + 20 3308 c.3166G>A c.(3166-3168)GGT>AGT p.G1056S NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1056 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TGAGGTGCTCGGTTATACCAA 0.448 TNFSF11 8600 broad.mit.edu 37 13 43180986 43180986 + Missense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr13:43180986C>T uc001uyu.2 + 5 1035 c.886C>T c.(886-888)CCC>TCC p.P296S TNFSF11_uc001uyt.2_Missense_Mutation_p.P223S NM_003701 NP_003692 O14788 TNF11_HUMAN tumor necrosis factor ligand superfamily, member 296 Extracellular (Potential). immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding 0 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) GGTCTCCAACCCCTCCTTACT 0.418 RB1 5925 broad.mit.edu 37 13 49033967 49033967 + Nonsense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr13:49033967C>T uc001vcb.2 + 20 2270 c.2104C>T c.(2104-2106)CAA>TAA p.Q702* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 702 Pocket; binds T and E1A.|Domain B. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7)|p.Q702*(2)|p.Q702K(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCATTTGGACCAAGTAAGAAA 0.343 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) P704P 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A G G TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr14:20010235A>G uc001vwc.3 - 5 975 c.923T>C c.(922-924)GTT>GCT p.V308A P704P_uc001vwb.3_RNA|uc001vwd.2_RNA NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN prostate-specific P704P 308 ANK 5. 0 AAGTATGAGAACAGTTCTAAA 0.368 HCN4 10021 broad.mit.edu 37 15 73614906 73614906 + Silent SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr15:73614906C>T uc002avp.2 - 8 4522 c.3528G>A c.(3526-3528)GGG>GGA p.G1176G NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 1176 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GAGGGGGCCCCCCAGAAGAGG 0.602 ACSM5 54988 broad.mit.edu 37 16 20439127 20439127 + Silent SNP G A A rs12922063 TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr16:20439127G>A uc002dhe.2 + 7 1086 c.939G>A c.(937-939)CCG>CCA p.P313P NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 313 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CCAAATTCCCGATAACCACCC 0.473 ITGAD 3681 broad.mit.edu 37 16 31409190 31409190 + Silent SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr16:31409190G>A uc002ebv.1 + 5 436 c.387G>A c.(385-387)TCG>TCA p.S129S ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc010cap.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 129 FG-GAP 2.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TGCTGGGCTCGCGCTGGGAGA 0.642 CES4 51716 broad.mit.edu 37 16 55803916 55803916 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr16:55803916G>A uc002eik.2 + 4 491 c.40G>A c.(40-42)GCA>ACA p.A14T CES4_uc010cce.2_Missense_Mutation_p.A14T NR_003276 RecName: Full=Inactive carboxylesterase 4; AltName: Full=Placental carboxylesterase 3; Short=PCE-3; Flags: Precursor; 0 GGTGGGTGCGGCATCAACCTA 0.562 CETP 1071 broad.mit.edu 37 16 57007243 57007243 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr16:57007243G>A uc002eki.2 + 9 808 c.751G>A c.(751-753)GGT>AGT p.G251S CETP_uc002ekj.2_Intron NM_000078 NP_000069 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 251 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding central_nervous_system(1)|skin(1) 2 CTTCCTCCAGGGTCATTTCAT 0.597 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C T T rs11540652 TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) NF1 4763 broad.mit.edu 37 17 29586049 29586049 + Splice_Site SNP G A A rs149784315 by1000genomes TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr17:29586049G>A uc002hgg.2 + 33 4666 c.4333_splice c.e33-1 p.I1445_splice NF1_uc002hgh.2_Splice_Site_p.I1424_splice|NF1_uc002hgi.1_Splice_Site_p.I457_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(4) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTATTGTGTAGATACTTCAGA 0.303 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) BZRAP1 9256 broad.mit.edu 37 17 56382781 56382781 + Silent SNP C A A rs149705380 byFrequency TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr17:56382781C>A uc002ivx.3 - 29 6271 c.5400G>T c.(5398-5400)GTG>GTT p.V1800V BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_Silent_p.V32V|BZRAP1_uc010dcs.2_Silent_p.V1740V|BZRAP1_uc010wnt.1_Silent_p.V1791V NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1800 SH3 3. mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCCCCCAAACACAGTAATGA 0.587 ITGB4 3691 broad.mit.edu 37 17 73729694 73729694 + Silent SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr17:73729694C>T uc002jpg.2 + 13 1765 c.1578C>T c.(1576-1578)TAC>TAT p.Y526Y ITGB4_uc002jph.2_Silent_p.Y526Y|ITGB4_uc010dgo.2_Silent_p.Y526Y|ITGB4_uc002jpi.3_Silent_p.Y526Y|ITGB4_uc010dgp.1_Silent_p.Y526Y|ITGB4_uc002jpj.2_Silent_p.Y526Y|ITGB4_uc010wsh.1_Silent_p.Y81Y NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 526 II.|Extracellular (Potential).|Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GTGTGTGCTACGGCGAAGGCC 0.642 C18orf45 85019 broad.mit.edu 37 18 20889649 20889649 + Silent SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr18:20889649C>T uc002kuf.2 - 14 934 c.825G>A c.(823-825)ACG>ACA p.T275T C18orf45_uc010xaq.1_RNA|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA|C18orf45_uc002kue.2_RNA NM_032933 NP_116322 Q24JQ0 CR045_HUMAN hypothetical protein LOC85019 275 Helical; (Potential). integral to membrane 0 all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127) CTTACCATCCCGTGGTTGCAC 0.398 PEX11G 92960 broad.mit.edu 37 19 7542216 7542217 + Frame_Shift_Ins INS - C C TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr19:7542216_7542217insC uc002mgk.1 - 5 606_607 c.597_598insG c.(595-600)CTGCCCfs p.L199fs PEX11G_uc002mgl.1_Frame_Shift_Ins_p.L129fs NM_080662 NP_542393 Q96HA9 PX11C_HUMAN peroxisomal biogenesis factor 11 gamma 199_200 Lumenal (Potential). integral to membrane|peroxisomal membrane 0 ACGCCCCGGGGCAGCCAGTGCA 0.713 ZNF99 7652 broad.mit.edu 37 19 22940645 22940645 + Missense_Mutation SNP A T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr19:22940645A>T uc010xrh.1 - 5 1793 c.1793T>A c.(1792-1794)TTC>TAC p.F598Y NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAGGGCTGAGAAATGGTTAAA 0.368 KIAA0355 9710 broad.mit.edu 37 19 34819037 34819037 + Missense_Mutation SNP A G G TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr19:34819037A>G uc002nvd.3 + 6 1944 c.1085A>G c.(1084-1086)GAC>GGC p.D362G NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 362 ovary(1) 1 Esophageal squamous(110;0.162) TCGGCCGCCGACAATCTGAAA 0.512 DPF1 8193 broad.mit.edu 37 19 38713080 38713080 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr19:38713080G>A uc002ohl.2 - 3 323 c.296C>T c.(295-297)ACG>ATG p.T99M DPF1_uc002ohm.2_Missense_Mutation_p.T99M|DPF1_uc002ohn.2_Missense_Mutation_p.T17M|DPF1_uc010xtu.1_Missense_Mutation_p.T73M|DPF1_uc010xtv.1_Missense_Mutation_p.T73M|DPF1_uc010xtw.1_Missense_Mutation_p.T73M NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 99 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCGGGGTACGTGTAAATCTG 0.517 FAM126B 285172 broad.mit.edu 37 2 201857004 201857004 + Silent SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr2:201857004C>T uc002uws.3 - 10 1019 c.831G>A c.(829-831)TTG>TTA p.L277L FAM126B_uc002uwu.2_Silent_p.L195L|FAM126B_uc002uwv.2_Silent_p.L277L NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 277 intracellular ovary(1) 1 AATAACTTACCAATAGTGGTT 0.333 IRS1 3667 broad.mit.edu 37 2 227662172 227662172 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr2:227662172G>A uc002voh.3 - 1 1335 c.1283C>T c.(1282-1284)TCG>TTG p.S428L NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 428 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity p.S428L(1) lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) ATACTCATCCGAGGAGATGAA 0.617 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TAF4 6874 broad.mit.edu 37 20 60581775 60581775 + Missense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr20:60581775C>T uc002ybs.2 - 7 2014 c.2014G>A c.(2014-2016)GCG>ACG p.A672T NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 672 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) ATGAAGGCCGCGGAGTCGGGG 0.662 KRTAP6-3 337968 broad.mit.edu 37 21 31964779 31964779 + Silent SNP C A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr21:31964779C>A uc002yom.2 + 1 21 c.15C>A c.(13-15)ACC>ACA p.T5T NM_181605 NP_853636 keratin associated protein 6-3 0 CCTCAACAACCAACACCATGT 0.363 FLNB 2317 broad.mit.edu 37 3 58140654 58140654 + Silent SNP T C C TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr3:58140654T>C uc003djj.2 + 40 6936 c.6771T>C c.(6769-6771)CCT>CCC p.P2257P FLNB_uc010hne.2_Silent_p.P2288P|FLNB_uc003djk.2_Silent_p.P2246P|FLNB_uc010hnf.2_Silent_p.P2233P|FLNB_uc003djl.2_Silent_p.P2077P|FLNB_uc003djm.2_Silent_p.P2064P NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2257 Interaction with INPPL1.|Filamin 21. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCCAAGAGCCTGGTATGTATT 0.353 SLC9A10 285335 broad.mit.edu 37 3 111887770 111887770 + Missense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr3:111887770C>T uc003dyu.2 - 25 3413 c.3191G>A c.(3190-3192)CGA>CAA p.R1064Q SLC9A10_uc011bhu.1_Missense_Mutation_p.R327Q|SLC9A10_uc010hqc.2_Missense_Mutation_p.R1016Q NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 1064 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ATAAGTTTTTCGTAACAGACA 0.323 HLTF 6596 broad.mit.edu 37 3 148804115 148804115 + Nonsense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr3:148804115C>T uc003ewq.1 - 1 227 c.9G>A c.(7-9)TGG>TGA p.W3* HLTF_uc003ewr.1_Nonsense_Mutation_p.W3*|HLTF_uc003ews.1_Nonsense_Mutation_p.W3*|HLTF_uc010hve.1_Nonsense_Mutation_p.W3* NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 3 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCTTGAACATCCAGGACATGG 0.652 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G A A rs121913273 TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) LARP1B 55132 broad.mit.edu 37 4 129003366 129003366 + Silent SNP A G G TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr4:129003366A>G uc003iga.2 + 5 395 c.264A>G c.(262-264)TCA>TCG p.S88S LARP1B_uc003ifw.1_Intron|LARP1B_uc003ifx.2_Silent_p.S88S|LARP1B_uc003ify.2_Silent_p.S88S|LARP1B_uc003ifz.1_Silent_p.S88S NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 88 RNA binding 0 TTGTAAGATCAGAGAGTCAAG 0.373 PCDHA1 56147 broad.mit.edu 37 5 140167909 140167909 + Silent SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr5:140167909G>A uc003lhb.2 + 1 2034 c.2034G>A c.(2032-2034)GCG>GCA p.A678A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A678A NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 678 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCAAAGGCGTCTTCGCGGG 0.662 HRH2 3274 broad.mit.edu 37 5 175110363 175110363 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr5:175110363G>A uc003mdd.2 + 1 1900 c.127G>A c.(127-129)GTG>ATG p.V43M HRH2_uc003mdc.3_Missense_Mutation_p.V43M NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 43 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CTGTCTGGCCGTGGGCTTGAA 0.587 SEMA3C 10512 broad.mit.edu 37 7 80546078 80546078 + Missense_Mutation SNP C A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr7:80546078C>A uc003uhj.2 - 2 582 c.20G>T c.(19-21)TGC>TTC p.C7F SEMA3C_uc011kgw.1_Missense_Mutation_p.C25F|SEMA3C_uc011kgx.1_5'UTR NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 7 immune response|response to drug membrane receptor activity ovary(1) 1 AACCAACACGCAAATTGTCCG 0.353 PDIA4 9601 broad.mit.edu 37 7 148703125 148703125 + Silent SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr7:148703125G>A uc003wff.2 - 8 1434 c.1152C>T c.(1150-1152)GCC>GCT p.A384A NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 384 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) AGTCCTTGATGGCCGAGTCCT 0.592 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZDHHC2 51201 broad.mit.edu 37 8 17072848 17072848 + Silent SNP A G G TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr8:17072848A>G uc003wxe.2 + 11 1450 c.1053A>G c.(1051-1053)AAA>AAG p.K351K NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 351 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) ACCCAGGAAAATGCAAAGCTG 0.403 FBXO16 157574 broad.mit.edu 37 8 28321322 28321322 + Missense_Mutation SNP G T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr8:28321322G>T uc003xgu.2 - 4 247 c.149C>A c.(148-150)ACA>AAA p.T50K ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.T37K|FBXO16_uc003xgw.2_Missense_Mutation_p.T37K NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 50 ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TTGAGAGTCTGTCCATTTGTC 0.428 KIAA0020 9933 broad.mit.edu 37 9 2829854 2829854 + Missense_Mutation SNP C T T rs62534389 TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr9:2829854C>T uc003zhp.1 - 8 868 c.772G>A c.(772-774)GCA>ACA p.A258T KIAA0020_uc010mhc.1_Missense_Mutation_p.A257T|KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T NM_014878 NP_055693 Q15397 K0020_HUMAN KIAA0020 protein 258 Pumilio 3.|PUM-HD. endoplasmic reticulum|nucleolus RNA binding ovary(1) 1 GBM - Glioblastoma multiforme(50;0.0319) TCATTGTATGCGTACTCCACG 0.458 C9orf25 203259 broad.mit.edu 37 9 34401054 34401054 + Missense_Mutation SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr9:34401054C>T uc011lok.1 - 6 773 c.466G>A c.(466-468)GAC>AAC p.D156N C9orf25_uc003zuj.2_Missense_Mutation_p.D139N|C9orf25_uc003zuk.2_Missense_Mutation_p.D128N|C9orf25_uc011lol.1_Missense_Mutation_p.D144N|C9orf25_uc003zul.2_Missense_Mutation_p.D127N NM_147202 NP_671735 Q8IW50 CI025_HUMAN hypothetical protein LOC203259 156 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.0858) AGGTCCTCGTCGTCGGGGATC 0.617 FAM75C1 441452 broad.mit.edu 37 9 90537820 90537820 + Missense_Mutation SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr9:90537820G>A uc010mqi.2 + 4 3027 c.2998G>A c.(2998-3000)GTC>ATC p.V1000I FAM75C1_uc004apq.3_Missense_Mutation_p.V983I NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GAATGAAGGCGTCCAGCTACT 0.408 EGFL7 51162 broad.mit.edu 37 9 139564727 139564727 + Silent SNP C T T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chr9:139564727C>T uc004cid.2 + 7 1427 c.516C>T c.(514-516)GAC>GAT p.D172D EGFL7_uc004cif.2_Silent_p.D172D|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Silent_p.D172D|EGFL7_uc004cie.2_Silent_p.D172D|EGFL7_uc004cih.2_Silent_p.D172D|MIR126_hsa-mir-126|MI0000471_5'Flank NM_201446 NP_958854 Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 172 EGF-like 2; calcium-binding (Potential). angiogenesis|vasculogenesis calcium ion binding ovary(1) 1 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) TGTCTGCAGACGGTACACTCT 0.677 ZNF280C 55609 broad.mit.edu 37 X 129370452 129370452 + Silent SNP G A A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 39d1f122-31d0-4e1c-95a7-0e65e75b1457 d456abad-4114-4c44-9d80-fe569abe7cda g.chrX:129370452G>A uc004evm.2 - 7 809 c.655C>T c.(655-657)CTG>TTG p.L219L ZNF280C_uc010nrf.1_Silent_p.L219L NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 219 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 CCTTTTGACAGCATAACTTGG 0.323