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 PER3 8863 broad.mit.edu 37 1 7863904 7863904 + Nonsense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:7863904C>T uc001aoo.2 + 9 1304 c.1129C>T c.(1129-1131)CGA>TGA p.R377* PER3_uc009vmg.1_Nonsense_Mutation_p.R378*|PER3_uc009vmh.1_Nonsense_Mutation_p.R378*|PER3_uc001aop.2_Nonsense_Mutation_p.R378*|PER3_uc010nzw.1_Nonsense_Mutation_p.R59*|PER3_uc001aon.2_Nonsense_Mutation_p.R377* NM_016831 NP_058515 P56645 PER3_HUMAN period 3 377 PAC. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GCATAAAGTTCGAACGTAAGC 0.388000 FBXO44 93611 broad.mit.edu 37 1 11715958 11715958 + Silent SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:11715958C>T uc001asm.2 + 2 192 c.66C>T c.(64-66)CCC>CCT p.P22P FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Silent_p.P22P|FBXO44_uc010oaq.1_Silent_p.P22P|FBXO44_uc001asl.2_Silent_p.P22P|FBXO44_uc001asn.2_Silent_p.P22P|FBXO44_uc010oar.1_Silent_p.P22P|FBXO44_uc010oas.1_Intron NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 22 F-box. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CGCACGTGCCCGCCCGCCAGC 0.632000 BRDT 676 broad.mit.edu 37 1 92433710 92433710 + Missense_Mutation SNP A A T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:92433710A>T uc001dok.3 + 4 687 c.338A>T c.(337-339)GAT>GTT p.D113V BRDT_uc001dol.3_Missense_Mutation_p.D113V|BRDT_uc010osz.1_Missense_Mutation_p.D113V|BRDT_uc009wdf.2_Missense_Mutation_p.D40V|BRDT_uc010ota.1_Missense_Mutation_p.D67V|BRDT_uc010otb.1_Missense_Mutation_p.D67V|BRDT_uc001dom.3_Missense_Mutation_p.D113V NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 113 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TAGCCTGGAGATGACATTGTT 0.368000 CD1A 909 broad.mit.edu 37 1 158226001 158226001 + Missense_Mutation SNP T T C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:158226001T>C uc001frt.2 + 3 1066 c.533T>C c.(532-534)CTT>CCT p.L178P NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 178 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) ACACACAATCTTCTCAGTGAC 0.473000 DCAF6 55827 broad.mit.edu 37 1 167974018 167974018 + Silent SNP A A G TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:167974018A>G uc001gew.2 + 10 1607 c.1365A>G c.(1363-1365)ACA>ACG p.T455T DCAF6_uc001gev.2_Silent_p.T455T|DCAF6_uc001gex.2_Silent_p.T455T|DCAF6_uc010plk.1_Silent_p.T424T|DCAF6_uc001gey.2_Silent_p.T308T NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 455 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GACACCACACACATCATCAGT 0.398000 SELP 6403 broad.mit.edu 37 1 169565209 169565209 + Missense_Mutation SNP G G C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:169565209G>C uc001ggi.3 - 12 2120 c.2055C>G c.(2053-2055)AGC>AGG p.S685R SELP_uc001ggh.2_Missense_Mutation_p.S520R|SELP_uc009wvr.2_Missense_Mutation_p.S685R NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 685 Extracellular (Potential).|Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AAGGTCTGCAGCTGAGAGTGC 0.493000 PAPPA2 60676 broad.mit.edu 37 1 176668366 176668366 + Silent SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:176668366C>T uc001gkz.2 + 8 4041 c.2877C>T c.(2875-2877)CAC>CAT p.H959H PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 959 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TCTTCCAACACCCGGTCCAAG 0.567000 PAPPA2 60676 broad.mit.edu 37 1 176668713 176668713 + Missense_Mutation SNP A A C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:176668713A>C uc001gkz.2 + 8 4388 c.3224A>C c.(3223-3225)AAG>ACG p.K1075T PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1075 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TCTCACAGGAAGTTCACGGAC 0.537000 FAM71A 149647 broad.mit.edu 37 1 212798427 212798427 + Missense_Mutation SNP A A T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:212798427A>T uc001hjk.2 + 1 612 c.208A>T c.(208-210)ACC>TCC p.T70S uc010pth.1_Intron NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 70 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CCGTATGGTGACCATGGGCAT 0.527000 RYR2 6262 broad.mit.edu 37 1 237870335 237870335 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:237870335G>A uc001hyl.1 + 68 9787 c.9667G>A c.(9667-9669)GAG>AAG p.E3223K RYR2_uc010pxz.1_Missense_Mutation_p.E178K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3223 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAATTAGCCGAGTCCGGCAT 0.468000 OR2L2 26246 broad.mit.edu 37 1 248201664 248201664 + Missense_Mutation SNP T T C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr1:248201664T>C uc001idw.2 + 1 191 c.95T>C c.(94-96)CTC>CCC p.L32P OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTCATTTTTCTCATTTTCCTA 0.378000 GATA3 2625 broad.mit.edu 37 10 8100641 8100641 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr10:8100641G>A uc001ika.2 + 3 1172 c.615G>A c.(613-615)ATG>ATA p.M205I GATA3_uc001ijz.2_Missense_Mutation_p.M205I NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 205 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 GTGGCAGCATGACCGCCCTGG 0.687000 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) CELF2 10659 broad.mit.edu 37 10 11259399 11259399 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr10:11259399G>A uc001iki.3 + 3 354 c.262G>A c.(262-264)GTA>ATA p.V88I CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Missense_Mutation_p.V88I|CELF2_uc001ikk.2_Missense_Mutation_p.V95I|CELF2_uc001ikl.3_Missense_Mutation_p.V95I|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.V64I|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Missense_Mutation_p.V64I|CELF2_uc001ikp.3_Missense_Mutation_p.V64I|CELF2_uc010qbn.1_Missense_Mutation_p.V72I|CELF2_uc009xiw.1_Intron|CELF2_uc010qbo.1_Intron|CELF2_uc010qbp.1_Intron NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 88 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 TTGTTGTTTCGTAACATTTTA 0.368000 FRMPD2 143162 broad.mit.edu 37 10 49376666 49376666 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr10:49376666G>A uc001jgi.2 - 27 3616 c.3509C>T c.(3508-3510)GCG>GTG p.A1170V FRMPD2_uc001jgh.2_Missense_Mutation_p.A1138V|FRMPD2_uc001jgj.2_Missense_Mutation_p.A1148V|FRMPD2L1_uc001jgf.2_Missense_Mutation_p.A181V|FRMPD2_uc001jgg.2_Missense_Mutation_p.A122V|FRMPD2_uc001jgk.2_Missense_Mutation_p.A122V NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 1170 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CTCAGGCAGCGCACCTGGAGG 0.572000 OR5T2 219464 broad.mit.edu 37 11 55999758 55999758 + Missense_Mutation SNP T T G TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr11:55999758T>G uc010rjc.1 - 1 904 c.904A>C c.(904-906)AGT>CGT p.S302R NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 302 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TAGCTGGAACTTGGTCTCACA 0.428000 OR9G4 283189 broad.mit.edu 37 11 56510973 56510973 + Silent SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr11:56510973C>T uc010rjo.1 - 1 315 c.315G>A c.(313-315)AAG>AAA p.K105K NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 105 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AGGAAATGCGCTTATCTTCTG 0.463000 MMP27 64066 broad.mit.edu 37 11 102563733 102563733 + Silent SNP C C T rs138562543 by1000genomes TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr11:102563733C>T uc001phd.1 - 9 1256 c.1233G>A c.(1231-1233)CCG>CCA p.P411P NM_022122 NP_071405 Q9H306 MMP27_HUMAN matrix metalloproteinase 27 precursor 411 Hemopexin-like 3. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CCACTCTCTGCGGGAACCCTT 0.433000 FGF23 8074 broad.mit.edu 37 12 4479725 4479725 + Silent SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr12:4479725G>A uc001qmq.1 - 3 686 c.540C>T c.(538-540)AGC>AGT p.S180S NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 180 Cleavage; by proprotein convertases. cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CGTCCTCGGCGCTCCGGGTGT 0.687000 TRPV4 59341 broad.mit.edu 37 12 110230484 110230484 + Silent SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr12:110230484C>T uc001tpj.1 - 10 1892 c.1797G>A c.(1795-1797)ACG>ACA p.T599T TRPV4_uc001tpg.1_Silent_p.T565T|TRPV4_uc001tph.1_Silent_p.T552T|TRPV4_uc001tpi.1_Silent_p.T492T|TRPV4_uc001tpk.1_Silent_p.T599T|TRPV4_uc001tpl.1_Silent_p.T539T NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 599 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TATAGGTCCCCGTCAGCTTCA 0.577000 RCBTB1 55213 broad.mit.edu 37 13 50140787 50140787 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr13:50140787C>T uc001vde.1 - 4 505 c.244G>A c.(244-246)GGG>AGG p.G82R NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 82 RCC1 1. cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GGTCCACTCCCGTAACTGAGG 0.423000 TBPL2 387332 broad.mit.edu 37 14 55907216 55907216 + Silent SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr14:55907216C>T uc001xby.2 - 1 48 c.48G>A c.(46-48)CCG>CCA p.P16P NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 16 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding 0 AGGGTAAGCGCGGAGCGAGCA 0.692000 HSPA2 3306 broad.mit.edu 37 14 65008905 65008905 + Silent SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr14:65008905C>T uc001xhj.2 + 2 1414 c.1338C>T c.(1336-1338)TAC>TAT p.Y446Y HSPA2_uc001xhk.3_Silent_p.Y446Y NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 446 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) TGCAGGTATACGAGGGCGAAC 0.597000 TSHR 7253 broad.mit.edu 37 14 81609934 81609934 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr14:81609934C>T uc001xvd.1 + 10 1688 c.1532C>T c.(1531-1533)ACG>ATG p.T511M NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 511 Helical; Name=3; (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TCGGTGTATACGCTGACGGTC 0.577000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism RAGE 5891 broad.mit.edu 37 14 102700063 102700063 + Silent SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr14:102700063G>A uc001ylm.2 - 8 880 c.654C>T c.(652-654)ATC>ATT p.I218I RAGE_uc010txv.1_Silent_p.I188I|RAGE_uc001yln.2_Silent_p.I36I|RAGE_uc001ylh.2_RNA|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA NM_014226 NP_055041 Q9UQ07 MOK_HUMAN MAPK/MAK/MRK overlapping kinase 218 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 CGGGTGTGCCGATGACATCGT 0.527000 TLN2 83660 broad.mit.edu 37 15 63111822 63111822 + Splice_Site SNP T T A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr15:63111822T>A uc002alb.3 + 50 6877 c.6877_splice c.e50+2 p.G2293_splice TLN2_uc002alc.3_Splice_Site_p.G686_splice|TLN2_uc010uic.1_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CCATGAAAGGTAGGCTGGATT 0.572000 NOX5 79400 broad.mit.edu 37 15 69328256 69328256 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr15:69328256C>T uc002ars.1 + 7 1188 c.1168C>T c.(1168-1170)CGC>TGC p.R390C NOX5_uc002arp.1_Missense_Mutation_p.R372C|NOX5_uc002arq.1_Missense_Mutation_p.R344C|NOX5_uc010bid.1_Missense_Mutation_p.R355C|NOX5_uc002arr.1_Missense_Mutation_p.R362C|NOX5_uc010bie.1_Missense_Mutation_p.R190C|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 390 Ferric oxidoreductase.|Cytoplasmic (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 TTCCTGCATCCGCAGGAGTGG 0.582000 NEO1 4756 broad.mit.edu 37 15 73552659 73552659 + Missense_Mutation SNP G G A rs140293397 TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr15:73552659G>A uc002avm.3 + 15 2393 c.2251G>A c.(2251-2253)GTT>ATT p.V751I NEO1_uc010ukx.1_Missense_Mutation_p.V751I|NEO1_uc010uky.1_Missense_Mutation_p.V751I|NEO1_uc010ukz.1_Missense_Mutation_p.V175I|NEO1_uc002avn.3_Missense_Mutation_p.V416I NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 751 Extracellular (Potential).|Fibronectin type-III 4. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 ACGCCCGCTCGTTACTAGCAT 0.483000 ALPK3 57538 broad.mit.edu 37 15 85383832 85383832 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr15:85383832C>T uc002ble.2 + 5 2095 c.1928C>T c.(1927-1929)GCG>GTG p.A643V NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 643 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGTGTCCGGGCGCCTGGGGAG 0.652000 TTLL13 440307 broad.mit.edu 37 15 90799041 90799041 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr15:90799041C>T uc002bpd.1 + 5 760 c.472C>T c.(472-474)CGG>TGG p.R158W TTLL13_uc002bpe.1_Intron NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 158 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) TCTGCTGGCTCGGAACCTCAA 0.532000 E4F1 1877 broad.mit.edu 37 16 2285333 2285333 + Silent SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr16:2285333G>A uc002cpm.2 + 14 2163 c.2115G>A c.(2113-2115)GCG>GCA p.A705A E4F1_uc010bsi.2_3'UTR|E4F1_uc010bsj.2_Silent_p.A528A|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 705 EA -> RG (in Ref. 1; AAD09139). cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GCCCAGAGGCGGCTGCCGCCG 0.672000 SRRM2 23524 broad.mit.edu 37 16 2815007 2815007 + Missense_Mutation SNP C C G TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr16:2815007C>G uc002crk.2 + 11 5027 c.4478C>G c.(4477-4479)CCT>CGT p.P1493R SRRM2_uc002crj.1_Missense_Mutation_p.P1397R|SRRM2_uc002crl.1_Missense_Mutation_p.P1493R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1397R NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1493 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCTCAGACTCCTAGGCCGAGG 0.498000 ABCC6 368 broad.mit.edu 37 16 16256896 16256896 + Missense_Mutation SNP C C T rs147794514 TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr16:16256896C>T uc002den.3 - 24 3497 c.3460G>A c.(3460-3462)GTA>ATA p.V1154I ABCC6_uc010bvo.2_Intron NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 1154 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CTTTCATCTACGCGAGCATTG 0.572000 TPPP3 51673 broad.mit.edu 37 16 67424237 67424237 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr16:67424237C>T uc002esz.2 - 3 1206 c.371G>A c.(370-372)CGG>CAG p.R124Q TPPP3_uc002eta.2_Missense_Mutation_p.R124Q|TPPP3_uc002etb.2_Missense_Mutation_p.R124Q NM_016140 NP_057224 Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family 124 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) GTCCGTCAGCCGGTCTACAGC 0.617000 SMG6 23293 broad.mit.edu 37 17 2203683 2203683 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr17:2203683G>A uc002fub.1 - 2 419 c.364C>T c.(364-366)CCT>TCT p.P122S SMG6_uc002fud.1_Missense_Mutation_p.P91S NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 122 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 GCAGTCCTAGGAAAGGATTCT 0.443000 MINK1 50488 broad.mit.edu 37 17 4794768 4794768 + Silent SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr17:4794768G>A uc010vsl.1 + 16 1954 c.1758G>A c.(1756-1758)CGG>CGA p.R586R MINK1_uc010vsk.1_Silent_p.R586R|MINK1_uc010vsm.1_Intron|MINK1_uc010vsn.1_Silent_p.R586R|MINK1_uc010vso.1_Silent_p.R531R|MINK1_uc010vsp.1_Silent_p.R76R NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 586 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 TGGCACACCGGGTCCCACTGA 0.657000 IMP5 162540 broad.mit.edu 37 17 43922979 43922979 + Missense_Mutation SNP C C A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr17:43922979C>A uc010wka.1 + 1 707 c.707C>A c.(706-708)GCT>GAT p.A236D LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 236 Cytoplasmic (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) GCTGCAGCAGCTGAGGGAGCC 0.642000 LRRC37A3 374819 broad.mit.edu 37 17 62857004 62857004 + Missense_Mutation SNP A A G TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr17:62857004A>G uc002jey.2 - 11 3791 c.3260T>C c.(3259-3261)ATT>ACT p.I1087T LRRC37A3_uc010wqg.1_Missense_Mutation_p.I205T|LRRC37A3_uc002jex.1_Missense_Mutation_p.I64T|LRRC37A3_uc010wqf.1_Missense_Mutation_p.I125T|LRRC37A3_uc010dek.1_Missense_Mutation_p.I93T NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1087 Extracellular (Potential). integral to membrane 0 CTCCGGCTCAATAATCAGCTC 0.483000 SEPT9 10801 broad.mit.edu 37 17 75398336 75398336 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr17:75398336G>A uc002jts.3 + 3 398 c.272G>A c.(271-273)CGG>CAG p.R91Q SEPT9_uc010wtk.1_Missense_Mutation_p.R72Q|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Missense_Mutation_p.R73Q|SEPT9_uc002jtv.2_Missense_Mutation_p.R84Q|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank NM_001113491 NP_001106963 Q9UHD8 SEPT9_HUMAN septin 9 isoform a 91 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding|protein binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(99;0.153) GCGTCCCTGCGGAGGGTGGAG 0.667000 OR7D2 162998 broad.mit.edu 37 19 9297018 9297018 + Silent SNP G G T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:9297018G>T uc002mkz.1 + 1 749 c.561G>T c.(559-561)CTG>CTT p.L187L NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 187 Extracellular (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TCCTCCAGCTGGCCTGCTCTG 0.433000 GIPC1 10755 broad.mit.edu 37 19 14591450 14591450 + Silent SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:14591450G>A uc002myt.2 - 5 699 c.429C>T c.(427-429)CTC>CTT p.L143L GIPC1_uc002myu.2_Silent_p.L143L|GIPC1_uc002myv.2_Silent_p.L46L|GIPC1_uc002myw.2_Silent_p.L46L|GIPC1_uc002myx.2_Silent_p.L143L|GIPC1_uc002myy.2_Silent_p.L46L NM_005716 NP_005707 O14908 GIPC1_HUMAN regulator of G-protein signalling 19 interacting 143 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding 0 TGGTGAGCCCGAGTGCATCCT 0.657000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NCAN 1463 broad.mit.edu 37 19 19329874 19329874 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:19329874G>A uc002nlz.2 + 3 323 c.224G>A c.(223-225)CGG>CAG p.R75Q NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 75 Ig-like V-type. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GATGCCCCTCGGATAAAGTGG 0.657000 ZNF14 7561 broad.mit.edu 37 19 19824904 19824904 + Nonsense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:19824904G>A uc002nnk.1 - 3 341 c.187C>T c.(187-189)CGA>TGA p.R63* NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) ACTCACCTTCGATTTTTCCCC 0.368000 ZNF676 163223 broad.mit.edu 37 19 22363376 22363376 + Missense_Mutation SNP A A C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:22363376A>C uc002nqs.1 - 3 1461 c.1143T>G c.(1141-1143)AAT>AAG p.N381K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 381 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CCTTATGTGTATTAAGGGTTG 0.393000 FCGBP 8857 broad.mit.edu 37 19 40366308 40366308 + Silent SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:40366308G>A uc002omp.3 - 30 13934 c.13926C>T c.(13924-13926)TGC>TGT p.C4642C NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4642 VWFD 11. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CACATTCCCCGCAGCCCTGGG 0.697000 CBLC 23624 broad.mit.edu 37 19 45296762 45296762 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:45296762G>A uc002ozs.2 + 8 1232 c.1169G>A c.(1168-1170)CGC>CAC p.R390H CBLC_uc010ejt.2_Missense_Mutation_p.R344H NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Cas-Br-M (murine) ecotropic retroviral 390 RING-type. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|skin(1) 6 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CCCTTCTGCCGCTGCGAGATC 0.637000 M AML POLD1 5424 broad.mit.edu 37 19 50912857 50912857 + Silent SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:50912857C>T uc002psb.3 + 17 2144 c.2088C>T c.(2086-2088)AGC>AGT p.S696S POLD1_uc002psc.3_Silent_p.S696S|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.S722S NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 696 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TGAAGGTGAGCGCCAACTCCG 0.682000 DNA_polymerases_(catalytic_subunits) ZNF548 147694 broad.mit.edu 37 19 57909885 57909885 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr19:57909885G>A uc002qom.2 + 3 480 c.230G>A c.(229-231)TGT>TAT p.C77Y ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.C80Y NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCAAAGCCCTGTCTGTCCAGC 0.512000 APOB 338 broad.mit.edu 37 2 21227217 21227217 + Missense_Mutation SNP G G T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr2:21227217G>T uc002red.2 - 28 12139 c.12011C>A c.(12010-12012)CCA>CAA p.P4004Q NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4004 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCTACGGCTGGGGAGGCTGC 0.498000 APOB 338 broad.mit.edu 37 2 21227262 21227262 + Missense_Mutation SNP C C T rs148197354 TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr2:21227262C>T uc002red.2 - 28 12094 c.11966G>A c.(11965-11967)CGC>CAC p.R3989H NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3989 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTCTGGTAGCGCAGATGGAG 0.507000 TBC1D8 11138 broad.mit.edu 37 2 101646088 101646088 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr2:101646088G>A uc010fiv.2 - 12 2173 c.2042C>T c.(2041-2043)GCG>GTG p.A681V TBC1D8_uc002tau.3_Missense_Mutation_p.A438V NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 681 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 CACATTCACCGCACTCTCTAG 0.567000 IL1R2 7850 broad.mit.edu 37 2 102644697 102644697 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr2:102644697C>T uc002tbm.2 + 9 1269 c.1040C>T c.(1039-1041)ACG>ATG p.T347M IL1R2_uc002tbn.2_Missense_Mutation_p.T347M NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 347 Ig-like C2-type 3.|Helical; (Potential). immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) GCCTCCTCCACGTTCTCCTGG 0.507000 HOXD10 3236 broad.mit.edu 37 2 176981985 176981985 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr2:176981985G>A uc002ukj.2 + 1 494 c.424G>A c.(424-426)GAG>AAG p.E142K NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 142 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) TTGTCCCGTTGAGAACCCTGA 0.522000 PDE1A 5136 broad.mit.edu 37 2 183104879 183104879 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr2:183104879C>T uc002uos.2 - 4 440 c.356G>A c.(355-357)CGG>CAG p.R119Q PDE1A_uc010zfp.1_Missense_Mutation_p.R15Q|PDE1A_uc002uoq.1_Missense_Mutation_p.R119Q|PDE1A_uc010zfq.1_Missense_Mutation_p.R119Q|PDE1A_uc002uor.2_Missense_Mutation_p.R103Q|PDE1A_uc002uou.2_Missense_Mutation_p.R85Q NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 119 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) CACAATGCTCCGAAATTTTGG 0.418000 SPAG16 79582 broad.mit.edu 37 2 215013968 215013968 + Missense_Mutation SNP T T G TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr2:215013968T>G uc002veq.2 + 15 1790 c.1698T>G c.(1696-1698)AAT>AAG p.N566K SPAG16_uc010fuz.1_Missense_Mutation_p.N417K|SPAG16_uc002ver.2_Missense_Mutation_p.N512K|SPAG16_uc010zjk.1_Missense_Mutation_p.N472K NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 566 WD 6. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GTCCTGGCAATGAGGTGAATT 0.388000 ZCCHC3 85364 broad.mit.edu 37 20 279293 279293 + Silent SNP A A C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr20:279293A>C uc002wdf.2 + 2 1087 c.1063A>C c.(1063-1065)AGG>CGG p.R355R ZCCHC3_uc002wdg.2_RNA NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 356 CCHC-type 2. nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGTGCTTCAGGTGCGGGGA 0.622000 C20orf195 79025 broad.mit.edu 37 20 62187885 62187885 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr20:62187885C>T uc002yfj.2 + 2 961 c.869C>T c.(868-870)ACG>ATG p.T290M C20orf195_uc002yfk.2_Missense_Mutation_p.T290M NM_024059 NP_076964 Q9BVV2 CT195_HUMAN hypothetical protein LOC79025 290 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GAGACCTCCACGCTGGTGTAC 0.627000 GAB4 128954 broad.mit.edu 37 22 17472781 17472781 + Silent SNP T T G TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr22:17472781T>G uc002zlw.2 - 2 568 c.460A>C c.(460-462)AGG>CGG p.R154R GAB4_uc010gqs.1_Silent_p.R154R NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 154 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCCTCCTGCCTGAAGCCACAG 0.562000 WNT7B 7477 broad.mit.edu 37 22 46318808 46318808 + Nonsense_Mutation SNP G G T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr22:46318808G>T uc003bgo.2 - 4 1352 c.978C>A c.(976-978)TGC>TGA p.C326* WNT7B_uc010haa.2_Nonsense_Mutation_p.C330* NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 326 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) AGTGGAATTTGCAGTTGCACT 0.652000 CLCN2 1181 broad.mit.edu 37 3 184073278 184073278 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr3:184073278G>A uc003foi.2 - 12 1334 c.1210C>T c.(1210-1212)CGG>TGG p.R404W CLCN2_uc003foh.2_5'UTR|CLCN2_uc010hya.1_Missense_Mutation_p.R404W|CLCN2_uc011brl.1_Missense_Mutation_p.R404W|CLCN2_uc011brm.1_Missense_Mutation_p.R360W|CLCN2_uc011brn.1_Missense_Mutation_p.R404W NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 404 chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) ACCCACGTCCGATTGTCAAAC 0.602000 KIAA1530 57654 broad.mit.edu 37 4 1374737 1374737 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr4:1374737C>T uc003gde.3 + 12 2269 c.1822C>T c.(1822-1824)CGT>TGT p.R608C KIAA1530_uc010ibv.2_Missense_Mutation_p.R159C NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 608 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) AGACAGGGCTCGTGAGCAGCG 0.667000 WDR19 57728 broad.mit.edu 37 4 39254766 39254766 + Missense_Mutation SNP A A C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr4:39254766A>C uc003gtv.2 + 25 2884 c.2730A>C c.(2728-2730)AGA>AGC p.R910S WDR19_uc011byi.1_Missense_Mutation_p.R750S|WDR19_uc003gtw.1_Missense_Mutation_p.R507S NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 910 TPR 4. cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TTTTTTACAGATACAAAGAAG 0.318000 TACR3 6870 broad.mit.edu 37 4 104640591 104640591 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr4:104640591G>A uc003hxe.1 - 1 385 c.242C>T c.(241-243)CCG>CTG p.P81L NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 81 Extracellular (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GCGCCAGGACGGCTGCACGAA 0.647000 FBXW7 55294 broad.mit.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr4:153247366C>T uc003ims.2 - 10 1585 c.1436G>A c.(1435-1437)CGA>CAA p.R479Q FBXW7_uc011cii.1_Missense_Mutation_p.R479Q|FBXW7_uc003imt.2_Missense_Mutation_p.R479Q|FBXW7_uc011cih.1_Missense_Mutation_p.R303Q|FBXW7_uc003imq.2_Missense_Mutation_p.R399Q|FBXW7_uc003imr.2_Missense_Mutation_p.R361Q NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 479 WD 3. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403000 Mis|N|D|F colorectal|endometrial|T-ALL DNAH5 1767 broad.mit.edu 37 5 13769145 13769145 + Missense_Mutation SNP G G C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr5:13769145G>C uc003jfd.2 - 58 9863 c.9821C>G c.(9820-9822)TCT>TGT p.S3274C DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3274 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTTGTCTTTAGAGATGCTGTC 0.458000 Kartagener_syndrome DDX4 54514 broad.mit.edu 37 5 55094378 55094378 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr5:55094378G>A uc003jqg.3 + 18 1668 c.1594G>A c.(1594-1596)GTT>ATT p.V532I DDX4_uc010ivz.2_Missense_Mutation_p.V512I|DDX4_uc003jqh.3_Missense_Mutation_p.V498I|DDX4_uc003jqj.2_Missense_Mutation_p.V383I NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 532 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) AGAAAAGCTCGTTGAAATTCT 0.328000 HTR1A 3350 broad.mit.edu 37 5 63256939 63256939 + Missense_Mutation SNP G G T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr5:63256939G>T uc011cqt.1 - 1 608 c.608C>A c.(607-609)GCT>GAT p.A203D NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 203 Helical; Name=5; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GATGTAGAAAGCTCCAAAGGT 0.587000 CTNNA1 1495 broad.mit.edu 37 5 138221962 138221962 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr5:138221962C>T uc003ldh.2 + 8 1219 c.1124C>T c.(1123-1125)ACC>ATC p.T375I CTNNA1_uc011cyx.1_Missense_Mutation_p.T272I|CTNNA1_uc011cyy.1_Missense_Mutation_p.T252I|CTNNA1_uc003ldi.2_Missense_Mutation_p.T73I|CTNNA1_uc003ldj.2_Missense_Mutation_p.T375I|CTNNA1_uc003ldl.2_Missense_Mutation_p.T5I NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 375 Interaction with alpha-actinin. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACCAAGAAGACCAGGGACTTG 0.358000 HCRTR2 3062 broad.mit.edu 37 6 55145214 55145214 + Silent SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr6:55145214G>A uc003pcl.2 + 6 1392 c.1077G>A c.(1075-1077)GCG>GCA p.A359A HCRTR2_uc010jzv.2_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 359 Helical; Name=7; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATAGTGCTGCGAATCCAATTA 0.343000 HOXA1 3198 broad.mit.edu 37 7 27135441 27135441 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr7:27135441C>T uc003sye.2 - 1 185 c.91G>A c.(91-93)GAC>AAC p.D31N HOXA1_uc003syd.2_Missense_Mutation_p.D31N|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 31 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 ATCCTATGGTCCGAGGGGTAG 0.597000 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay HECW1 23072 broad.mit.edu 37 7 43484720 43484720 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr7:43484720C>T uc003tid.1 + 11 2554 c.1949C>T c.(1948-1950)ACG>ATG p.T650M HECW1_uc011kbi.1_Missense_Mutation_p.T650M NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 650 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GATGGCGACACGCACCCCAGC 0.716000 HEPACAM2 253012 broad.mit.edu 37 7 92855746 92855746 + Missense_Mutation SNP G G C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr7:92855746G>C uc003umm.2 - 1 37 c.14C>G c.(13-15)GCT>GGT p.A5G HEPACAM2_uc011khy.1_Missense_Mutation_p.A5G NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 5 integral to membrane ovary(3)|breast(1)|kidney(1) 5 CTCCATGAAAGCATCCTGTCC 0.488000 SVOPL 136306 broad.mit.edu 37 7 138329520 138329520 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr7:138329520C>T uc011kqh.1 - 8 731 c.731G>A c.(730-732)CGC>CAC p.R244H SVOPL_uc003vue.2_Missense_Mutation_p.R92H NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 244 integral to membrane transmembrane transporter activity 0 CTTGGCAACGCGCTCCAGAGT 0.587000 SMARCD3 6604 broad.mit.edu 37 7 150936233 150936233 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr7:150936233G>A uc003wjs.2 - 13 1509 c.1408C>T c.(1408-1410)CGC>TGC p.R470C SMARCD3_uc003wjt.2_Missense_Mutation_p.R457C|SMARCD3_uc003wju.2_Missense_Mutation_p.R457C NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 470 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCTGCCTGCGCTGCTGGATC 0.572000 ELAVL2 1993 broad.mit.edu 37 9 23762098 23762098 + Nonsense_Mutation SNP G G C TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr9:23762098G>C uc003zpu.2 - 2 410 c.135C>G c.(133-135)TAC>TAG p.Y45* ELAVL2_uc003zps.2_Nonsense_Mutation_p.Y45*|ELAVL2_uc003zpt.2_Nonsense_Mutation_p.Y45*|ELAVL2_uc003zpv.2_Nonsense_Mutation_p.Y45*|ELAVL2_uc003zpw.2_Nonsense_Mutation_p.Y45* NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 45 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TCTGAGGAAGGTAGTTGACTA 0.428000 ELAVL2 1993 broad.mit.edu 37 9 23762120 23762120 + Missense_Mutation SNP T T G TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr9:23762120T>G uc003zpu.2 - 2 388 c.113A>C c.(112-114)AAG>ACG p.K38T ELAVL2_uc003zps.2_Missense_Mutation_p.K38T|ELAVL2_uc003zpt.2_Missense_Mutation_p.K38T|ELAVL2_uc003zpv.2_Missense_Mutation_p.K38T|ELAVL2_uc003zpw.2_Missense_Mutation_p.K38T NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 38 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TAAGTTGGTCTTGCTGTCTTC 0.443000 FBXO10 26267 broad.mit.edu 37 9 37521626 37521626 + Missense_Mutation SNP G G T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr9:37521626G>T uc004aab.2 - 8 2189 c.2140C>A c.(2140-2142)CCA>ACA p.P714T FBXO10_uc004aac.2_Missense_Mutation_p.P730T|FBXO10_uc004aad.2_Missense_Mutation_p.P264T NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 714 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) CGGCGCAGTGGGTCGTCCTCC 0.562000 TTC16 158248 broad.mit.edu 37 9 130489637 130489637 + Missense_Mutation SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr9:130489637G>A uc004brq.1 + 12 1724 c.1657G>A c.(1657-1659)GAG>AAG p.E553K PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.E540K|TTC16_uc004brr.1_Missense_Mutation_p.E403K|TTC16_uc010mxn.1_Missense_Mutation_p.E149K NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 553 binding 0 TGCGACCTCCGAGGAGCTGAA 0.517000 ST6GALNAC4 27090 broad.mit.edu 37 9 130674788 130674788 + Missense_Mutation SNP C C T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr9:130674788C>T uc004bss.2 - 4 646 c.370G>A c.(370-372)GTC>ATC p.V124I ST6GALNAC4_uc004bst.2_Missense_Mutation_p.V40I NM_175039 NP_778204 Q9H4F1 SIA7D_HUMAN sialyltransferase 7D isoform a 124 Lumenal (Potential). glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity 0 GTGTGTGAGACGACACGCAGG 0.632000 FIGF 2277 broad.mit.edu 37 X 15402056 15402056 + Missense_Mutation SNP A A T TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chrX:15402056A>T uc004cwt.1 - 1 522 c.13T>A c.(13-15)TGG>AGG p.W5R NM_004469 NP_004460 O43915 VEGFD_HUMAN vascular endothelial growth factor D 5 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(33;0.183) ACCACTACCCACTCTCTGTAC 0.408000 DCAF12L1 139170 broad.mit.edu 37 X 125685743 125685743 + Silent SNP G G A TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chrX:125685743G>A uc004eul.2 - 1 1100 c.849C>T c.(847-849)GAC>GAT p.D283D NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 283 WD 3. skin(3)|ovary(1) 4 GGAAGTAGCCGTCCAAGGACA 0.622000 SOX9 6662 broad.mit.edu 37 17 70119089 70119090 + Frame_Shift_Ins INS - - GT TCGA-BR-8380-01A-11D-2340-08 TCGA-BR-8380-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ccfe725-1cd6-41cc-9bd1-7b055fd04e20 1e4e8e97-c2ad-46a8-a939-f10d2b189716 g.chr17:70119088_70119089G>GGT uc002jiw.3 + 1 1032_1033 c.660_661G>GGT c.(658-663)gaggtgfs p.E220fs AK094963_uc002jiv.3_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. 220 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) GCATGAGCGAGGTGCACTCCCC 0.698