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 NEXN 91624 broad.mit.edu 37 1 78395101 78395101 + Missense_Mutation SNP G G C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr1:78395101G>C uc001dic.3 + 9 1262 c.965G>C c.(964-966)AGA>ACA p.R322T NEXN_uc001dia.3_Missense_Mutation_p.R308T|NEXN_uc009wcb.1_Missense_Mutation_p.R244T|NEXN_uc001dib.3_Missense_Mutation_p.R258T|NEXN_uc001did.1_Missense_Mutation_p.R232T|NEXN_uc001dif.1_Missense_Mutation_p.R214T NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 322 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle ovary(2) 2 Colorectal(170;0.114) aggcaaagaagagaagatgaa 0.229000 COL24A1 255631 broad.mit.edu 37 1 86591541 86591541 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr1:86591541C>T uc001dlj.2 - 3 520 c.478G>A c.(478-480)GAT>AAT p.D160N COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.D160N NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 160 TSP N-terminal.|Laminin G-like. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CATTGCTCATCATGAACACTG 0.343000 BPNT1 10380 broad.mit.edu 37 1 220242771 220242771 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr1:220242771C>T uc001hma.2 - 5 509 c.337G>A c.(337-339)GTG>ATG p.V113M BPNT1_uc010pug.1_Missense_Mutation_p.V58M|BPNT1_uc010puh.1_Missense_Mutation_p.V77M|BPNT1_uc001hmb.3_Missense_Mutation_p.V113M NM_006085 NP_006076 O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 113 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0558) ACCCAGACCACGAGCTAAAAT 0.313000 USP54 159195 broad.mit.edu 37 10 75258563 75258563 + Nonsense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr10:75258563G>A uc001juo.2 - 22 4896 c.4879C>T c.(4879-4881)CGA>TGA p.R1627* PPP3CB_uc001juf.2_5'Flank|PPP3CB_uc001jue.2_5'Flank|PPP3CB_uc001jug.2_5'Flank|PPP3CB_uc001jui.2_5'Flank|PPP3CB_uc001juh.2_5'Flank|USP54_uc010qkk.1_Nonsense_Mutation_p.R762*|USP54_uc001juk.2_Nonsense_Mutation_p.R715*|USP54_uc001jul.2_Nonsense_Mutation_p.R668*|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1627 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) CCAGGGGTTCGGGACCCTGGA 0.552000 PRR5L 79899 broad.mit.edu 37 11 36484155 36484155 + Missense_Mutation SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr11:36484155C>A uc001mwo.3 + 9 1365 c.976C>A c.(976-978)CCA>ACA p.P326T PRR5L_uc001mwp.2_Missense_Mutation_p.P326T|PRR5L_uc009ykk.2_Missense_Mutation_p.P198T|PRR5L_uc010rfc.1_3'UTR NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 326 ovary(1) 1 CCTGCTCCTGCCACCCAGCTT 0.677000 ARFGAP2 84364 broad.mit.edu 37 11 47196833 47196833 + Missense_Mutation SNP G G C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr11:47196833G>C uc001ndt.2 - 4 311 c.296C>G c.(295-297)GCC>GGC p.A99G ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.A99G|ARFGAP2_uc001ndu.2_Intron|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Missense_Mutation_p.A99G|ARFGAP2_uc001ndv.1_3'UTR NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 99 Required for interaction with coatomer.|Arf-GAP. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 GGCATCATTGGCTGTGCATCC 0.547000 MS4A14 84689 broad.mit.edu 37 11 60183690 60183690 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr11:60183690C>T uc001npj.2 + 5 1814 c.1249C>T c.(1249-1251)CCT>TCT p.P417S MS4A14_uc001npi.2_Missense_Mutation_p.P305S|MS4A14_uc001npn.2_Missense_Mutation_p.P155S|MS4A14_uc001npk.2_Missense_Mutation_p.P400S|MS4A14_uc001npl.2_Missense_Mutation_p.P155S|MS4A14_uc001npm.2_Missense_Mutation_p.P155S NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 417 integral to membrane receptor activity breast(1) 1 tgccatATTACCTGAAGCCTC 0.234000 FIBP 9158 broad.mit.edu 37 11 65655421 65655421 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr11:65655421C>T uc001ogd.2 - 2 389 c.268G>A c.(268-270)GCA>ACA p.A90T FIBP_uc009yqu.2_Missense_Mutation_p.A87T|FIBP_uc001oge.2_Missense_Mutation_p.A90T|FIBP_uc010roq.1_Missense_Mutation_p.A90T|FIBP_uc010ror.1_Missense_Mutation_p.A90T|CCDC85B_uc001ogf.2_5'Flank NM_198897 NP_942600 O43427 FIBP_HUMAN FGF intracellular binding protein isoform a 90 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding ovary(1) 1 READ - Rectum adenocarcinoma(159;0.166) ATGAGTAGTGCCTGCCGGGAG 0.433000 WNK1 65125 broad.mit.edu 37 12 1005298 1005298 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr12:1005298C>T uc001qio.3 + 24 6152 c.5645C>T c.(5644-5646)TCT>TTT p.S1882F WNK1_uc001qip.3_Missense_Mutation_p.S1634F|WNK1_uc001qir.3_Missense_Mutation_p.S1055F NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1882 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GATGCAAAGTCTGTTCATTTT 0.423000 GALNT8 26290 broad.mit.edu 37 12 4853826 4853826 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr12:4853826G>A uc001qne.1 + 4 912 c.820G>A c.(820-822)GTC>ATC p.V274I NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 274 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 AGCAGACGTGGTCGCCATCTT 0.498000 GSG1 83445 broad.mit.edu 37 12 13241798 13241798 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr12:13241798C>T uc001rbn.2 - 4 652 c.479G>A c.(478-480)AGA>AAA p.R160K GSG1_uc001rbj.2_Missense_Mutation_p.R124K|GSG1_uc001rbk.2_Missense_Mutation_p.R124K|GSG1_uc001rbl.2_Missense_Mutation_p.R147K|GSG1_uc001rbm.2_Missense_Mutation_p.R124K|GSG1_uc001rbo.2_Missense_Mutation_p.R160K|GSG1_uc001rbp.2_Missense_Mutation_p.R137K|GSG1_uc001rbq.1_Missense_Mutation_p.R160K NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 147 endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TTTCTCACCTCTCTTGGCTGG 0.527000 DGKA 1606 broad.mit.edu 37 12 56334503 56334503 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr12:56334503C>T uc001sij.2 + 12 1278 c.1014C>T c.(1012-1014)GTC>GTT p.V338V DGKA_uc009zoc.1_Silent_p.V338V|DGKA_uc001sih.1_Silent_p.V226V|DGKA_uc001sii.1_Silent_p.V196V|DGKA_uc009zod.1_Silent_p.V257V|DGKA_uc001sik.2_Silent_p.V338V|DGKA_uc001sil.2_Silent_p.V338V|DGKA_uc001sim.2_Silent_p.V338V|DGKA_uc001sin.2_Silent_p.V338V|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Silent_p.V80V NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 338 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) ATCCCAGTGTCCTGGTGAGAC 0.572000 OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DGKA 1606 broad.mit.edu 37 12 56335359 56335359 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr12:56335359C>T uc001sij.2 + 15 1505 c.1241C>T c.(1240-1242)CCT>CTT p.P414L DGKA_uc001sih.1_Missense_Mutation_p.P302L|DGKA_uc001sii.1_Missense_Mutation_p.P272L|DGKA_uc009zod.1_Missense_Mutation_p.P333L|DGKA_uc001sik.2_Missense_Mutation_p.P414L|DGKA_uc001sil.2_Missense_Mutation_p.P414L|DGKA_uc001sim.2_Missense_Mutation_p.P414L|DGKA_uc001sin.2_Missense_Mutation_p.P414L|DGKA_uc009zof.2_Missense_Mutation_p.P60L|DGKA_uc001sio.2_Missense_Mutation_p.P156L NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 414 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) AAGGATGGTCCTGAGATAGGG 0.473000 SUOX 6821 broad.mit.edu 37 12 56397752 56397752 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr12:56397752C>T uc001six.2 + 6 905 c.579C>T c.(577-579)CCC>CCT p.P193P SUOX_uc001siy.2_Silent_p.P193P|SUOX_uc001siz.2_Silent_p.P193P|SUOX_uc001sja.2_Silent_p.P193P NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 193 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) GCCAGCGGCCCTTTAATGCAG 0.547000 MLXIP 22877 broad.mit.edu 37 12 122615390 122615390 + Splice_Site SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr12:122615390G>A uc001ubq.2 + 7 911 c.911_splice c.e7-1 p.A304_splice MLXIP_uc001ubr.2_Splice_Site_p.A55_splice|MLXIP_uc001ubs.1_5'Flank|MLXIP_uc001ubt.2_5'Flank NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GATTCTTGCAGCACATCTGGG 0.502000 OREG0022218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYCBP2 23077 broad.mit.edu 37 13 77671839 77671839 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr13:77671839C>T uc001vkf.2 - 57 9427 c.9336G>A c.(9334-9336)ATG>ATA p.M3112I MYCBP2_uc010aev.2_Missense_Mutation_p.M2516I|MYCBP2_uc001vkg.1_Missense_Mutation_p.M635I|MYCBP2_uc010aew.2_Missense_Mutation_p.M498I NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACTTAGACTTCATTGTGTTAT 0.388000 FANCM 57697 broad.mit.edu 37 14 45657009 45657009 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr14:45657009G>A uc001wwd.3 + 19 4797 c.4698G>A c.(4696-4698)ATG>ATA p.M1566I FANCM_uc010anf.2_Missense_Mutation_p.M1540I|FANCM_uc001wwe.3_Missense_Mutation_p.M1102I|FANCM_uc010ang.2_Missense_Mutation_p.M780I NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1566 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 CTATTTACATGAAATCTTTGC 0.259000 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia ZFYVE26 23503 broad.mit.edu 37 14 68250043 68250043 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr14:68250043G>A uc001xka.2 - 21 3965 c.3826C>T c.(3826-3828)CCG>TCG p.P1276S ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.P1276S NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1276 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GTTGTCCTCGGGGAGCTCGGT 0.577000 MAPKBP1 23005 broad.mit.edu 37 15 42115796 42115796 + Silent SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr15:42115796C>A uc001zok.3 + 30 4054 c.3768C>A c.(3766-3768)GCC>GCA p.A1256A MAPKBP1_uc001zoj.3_Silent_p.A1250A|MAPKBP1_uc010bcj.2_Silent_p.A757A|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Silent_p.A1089A|MAPKBP1_uc010bck.2_Silent_p.A467A|MAPKBP1_uc010bcl.2_Silent_p.A757A NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1256 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GTTCCATGGCCAAGATATCCC 0.617000 C17orf85 55421 broad.mit.edu 37 17 3716433 3716434 + Nonsense_Mutation DNP GC GC AT TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr17:3716433_3716434GC>AT uc010ckl.1 - 13 1790_1791 c.1767_1768GC>AT c.(1765-1770)GAGCAG>GAATAG p.Q590* C17orf85_uc002fwr.2_Nonsense_Mutation_p.Q300*|C17orf85_uc002fwq.2_Nonsense_Mutation_p.Q310* NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 590 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) TGGCGAGACTGCTCTTTCTCCT 0.515000 RHBDL3 162494 broad.mit.edu 37 17 30615917 30615917 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr17:30615917G>A uc002hhe.1 + 4 415 c.401G>A c.(400-402)CGA>CAA p.R134Q RHBDL3_uc010csw.1_Missense_Mutation_p.R126Q|RHBDL3_uc010csx.1_Missense_Mutation_p.R134Q|RHBDL3_uc010csy.1_Missense_Mutation_p.R36Q|RHBDL3_uc002hhf.1_Missense_Mutation_p.R36Q NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 134 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) CTCTCGCAGCGACTTATCCGC 0.602000 EFTUD2 9343 broad.mit.edu 37 17 42940215 42940215 + Silent SNP G G A rs149288120 TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr17:42940215G>A uc002ihn.2 - 16 1734 c.1473C>T c.(1471-1473)CAC>CAT p.H491H EFTUD2_uc010wje.1_Silent_p.H456H|EFTUD2_uc010wjf.1_Silent_p.H481H NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 491 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) GGCCAAAGGCGTGAAACTGGA 0.557000 PPP4R1 9989 broad.mit.edu 37 18 9595144 9595144 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr18:9595144C>T uc002koe.1 - 3 178 c.60G>A c.(58-60)GTG>GTA p.V20V PPP4R1_uc010wzo.1_5'UTR|PPP4R1_uc002kod.1_Intron|PPP4R1_uc010wzp.1_Intron NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 20 HEAT 1. protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 TGTAGTCATCCACACCAACTA 0.423000 SUPT5H 6829 broad.mit.edu 37 19 39960816 39960816 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr19:39960816G>A uc002olo.3 + 17 1611 c.1432G>A c.(1432-1434)GTG>ATG p.V478M SUPT5H_uc002olp.3_Missense_Mutation_p.V478M|SUPT5H_uc002olq.3_Missense_Mutation_p.V474M|SUPT5H_uc002oln.3_Missense_Mutation_p.V478M|SUPT5H_uc002olr.3_Missense_Mutation_p.V478M|SUPT5H_uc002ols.1_Missense_Mutation_p.V101M|SUPT5H_uc010egp.1_5'Flank NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 478 KOW 3. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGGGACCACGTGAAGGTGAT 0.537000 CKM 1158 broad.mit.edu 37 19 45815134 45815134 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr19:45815134G>A uc002pbd.2 - 5 600 c.526C>T c.(526-528)CTG>TTG p.L176L NM_001824 NP_001815 P06732 KCRM_HUMAN muscle creatine kinase 176 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity skin(1) 1 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) ATGCTCTTCAGAGGGTAGTAC 0.607000 KCNF1 3754 broad.mit.edu 37 2 11053370 11053370 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr2:11053370C>T uc002rax.2 + 1 1308 c.818C>T c.(817-819)ACG>ATG p.T273M NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 273 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CTCACGCTCACGCACCTGGGT 0.632000 GDF7 151449 broad.mit.edu 37 2 20871059 20871059 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr2:20871059G>A uc002rdz.1 + 2 1803 c.1227G>A c.(1225-1227)GCG>GCA p.A409A NM_182828 NP_878248 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 preproprotein 409 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCAGACGCGGCGCCGGCCT 0.612000 TCF23 150921 broad.mit.edu 37 2 27373194 27373194 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr2:27373194G>A uc010ylg.1 + 2 426 c.426G>A c.(424-426)CCG>CCA p.P142P NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN transcription factor 23 142 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCCTGGCCGCCCTTCCTGC 0.622000 GPR39 2863 broad.mit.edu 37 2 133175294 133175294 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr2:133175294G>A uc002ttl.2 + 1 1148 c.679G>A c.(679-681)GCC>ACC p.A227T NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 227 Helical; Name=5; (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 CATCTTCGGCGCCTTCGTGGT 0.612000 TNS1 7145 broad.mit.edu 37 2 218683433 218683433 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr2:218683433G>A uc002vgt.2 - 24 3708 c.3310C>T c.(3310-3312)CGG>TGG p.R1104W TNS1_uc002vgr.2_Missense_Mutation_p.R1091W|TNS1_uc002vgs.2_Missense_Mutation_p.R1083W|TNS1_uc010zjv.1_Missense_Mutation_p.R1083W NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1104 Ser-rich. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GTGGGCGTCCGGGGACCCTGG 0.612000 EMILIN3 90187 broad.mit.edu 37 20 39991532 39991532 + Missense_Mutation SNP A A G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr20:39991532A>G uc002xjy.1 - 4 901 c.677T>C c.(676-678)TTT>TCT p.F226S NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 226 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) GATGACCCCAAAGCCCACAGG 0.607000 KCNH8 131096 broad.mit.edu 37 3 19384207 19384207 + Splice_Site SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr3:19384207G>A uc003cbk.1 + 4 765 c.570_splice c.e4+1 p.N190_splice KCNH8_uc011awe.1_Splice_Site_p.N190_splice|KCNH8_uc010hex.1_Splice_Site NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, integral to membrane two-component sensor activity lung(4)|ovary(1) 5 AATAAATAACGTAGGTGGTAT 0.453000 C3orf72 401089 broad.mit.edu 37 3 138669287 138669287 + Missense_Mutation SNP G G C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr3:138669287G>C uc003esx.1 + 3 532 c.401G>C c.(400-402)GGA>GCA p.G134A C3orf72_uc011bmr.1_3'UTR NM_001040061 NP_001035150 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 134 0 TTCCTAGCGGGACCCCGAAAC 0.667000 GHSR 2693 broad.mit.edu 37 3 172165669 172165669 + Missense_Mutation SNP A A T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr3:172165669A>T uc003fib.1 - 1 535 c.535T>A c.(535-537)TTC>ATC p.F179I GHSR_uc011bpv.1_Missense_Mutation_p.F179I NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 179 Helical; Name=4; (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) ACTAGCACGAAGATGGGCCCG 0.662000 TBCCD1 55171 broad.mit.edu 37 3 186272346 186272346 + Missense_Mutation SNP A A G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr3:186272346A>G uc003fqg.2 - 6 1370 c.1241T>C c.(1240-1242)GTA>GCA p.V414A TBCCD1_uc011bry.1_Missense_Mutation_p.V414A|TBCCD1_uc003fqh.2_Missense_Mutation_p.V318A NM_018138 NP_060608 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 414 C-CAP/cofactor C-like. cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding large_intestine(1)|ovary(1) 2 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) GGCAAAAGTTACTGTCTGGTT 0.458000 RFC4 5984 broad.mit.edu 37 3 186509621 186509621 + Missense_Mutation SNP T T C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr3:186509621T>C uc003fqz.2 - 8 917 c.694A>G c.(694-696)AAA>GAA p.K232E RFC4_uc011bsc.1_Missense_Mutation_p.K232E|RFC4_uc011bsd.1_Missense_Mutation_p.K232E NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 232 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TCTGACACTTTAACAAGATAA 0.323000 C4orf50 389197 broad.mit.edu 37 4 5969171 5969171 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr4:5969171C>T uc003git.1 - 5 517 c.427G>A c.(427-429)GTC>ATC p.V143I NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 143 pancreas(2)|breast(1) 3 TCAGACTTGACGTCCAGGTGG 0.512000 ASB5 140458 broad.mit.edu 37 4 177142387 177142387 + Nonsense_Mutation SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr4:177142387C>A uc003iuq.1 - 5 605 c.589G>T c.(589-591)GAA>TAA p.E197* ASB5_uc003iup.1_Nonsense_Mutation_p.E144* NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 197 intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TGAGGAATTTCTTGGTCAACA 0.418000 KIAA0947 23379 broad.mit.edu 37 5 5463022 5463022 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr5:5463022C>T uc003jdm.3 + 13 3797 c.3575C>T c.(3574-3576)TCT>TTT p.S1192F NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1192 ovary(1)|central_nervous_system(1) 2 TCAGGGGACTCTGTTTCTGAA 0.373000 ENC1 8507 broad.mit.edu 37 5 73931260 73931260 + Missense_Mutation SNP C C G rs144525141 TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr5:73931260C>G uc003kdc.3 - 2 2182 c.1051G>C c.(1051-1053)GAA>CAA p.E351Q ENC1_uc011css.1_Missense_Mutation_p.E278Q NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 351 Kelch 2. nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) ACCCCATTTTCAGACCCCCGC 0.532000 F12 2161 broad.mit.edu 37 5 176832124 176832124 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr5:176832124C>T uc003mgo.3 - 6 509 c.460G>A c.(460-462)GAG>AAG p.E154K F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 154 Fibronectin type-I. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGCTTGCTCAGTTCTATAC 0.562000 Hereditary_Angioedema HIST1H1E 3008 broad.mit.edu 37 6 26156976 26156976 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr6:26156976G>A uc003ngq.2 + 1 418 c.358G>A c.(358-360)GCT>ACT p.A120T HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 120 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 CAAGCCTAAGGCTAAAAAGGC 0.642000 ZNF187 7741 broad.mit.edu 37 6 28240525 28240525 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr6:28240525C>T uc011dld.1 + 4 766 c.496C>T c.(496-498)CGG>TGG p.R166W ZNF187_uc011dlc.1_Missense_Mutation_p.R167W|ZNF187_uc003nku.3_Missense_Mutation_p.R32W|ZNF187_uc003nkw.3_Missense_Mutation_p.R13W|ZNF187_uc011dle.1_Missense_Mutation_p.R13W|ZNF187_uc011dlf.1_Intron|ZNF187_uc011dlg.1_Missense_Mutation_p.R13W NM_001111039 NP_001104509 Q16670 ZN187_HUMAN zinc finger protein 187 isoform b 166 viral reproduction nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACAGCAGGTTCGGCATGAGTG 0.478000 ZFP57 346171 broad.mit.edu 37 6 29643828 29643828 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr6:29643828G>A uc011dlw.1 - 2 283 c.132C>T c.(130-132)GTC>GTT p.V44V ZFP57_uc003nnl.3_Silent_p.V24V NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 16 KRAB. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 CCTCAAAGGTGACTGGCTTCT 0.378000 RING1 6015 broad.mit.edu 37 6 33177736 33177736 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr6:33177736G>A uc003odk.2 + 4 478 c.284G>A c.(283-285)CGA>CAA p.R95Q RING1_uc011dqx.1_Missense_Mutation_p.R95Q|RING1_uc003odl.2_Missense_Mutation_p.R66Q NM_002931 NP_002922 Q06587 RING1_HUMAN ring finger protein 1 95 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding ovary(1)|skin(1) 2 GTGTCCAAGCGATCCCTACGG 0.562000 SMOC2 64094 broad.mit.edu 37 6 168910683 168910683 + Missense_Mutation SNP G G T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr6:168910683G>T uc003qws.1 + 2 193 c.173G>T c.(172-174)AGG>ATG p.R58M SMOC2_uc003qwr.1_Missense_Mutation_p.R58M NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 58 Kazal-like. signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) TCTGACGGAAGGACCTTCCTT 0.468000 RNF216 54476 broad.mit.edu 37 7 5781105 5781105 + Missense_Mutation SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr7:5781105C>A uc003soy.1 - 4 562 c.372G>T c.(370-372)TTG>TTT p.L124F RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.L181F NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 124 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TACCTTCTTCCAAGATGATGA 0.458000 CREB5 9586 broad.mit.edu 37 7 28844124 28844124 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr7:28844124C>T uc003szq.2 + 8 1401 c.1011C>T c.(1009-1011)ACC>ACT p.T337T CREB5_uc003szo.2_Silent_p.T304T|CREB5_uc003szr.2_Silent_p.T330T|CREB5_uc003szs.2_Silent_p.T198T NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 337 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 CCCTGCACACCGGCAACCAAG 0.363000 ESCO2 157570 broad.mit.edu 37 8 27660907 27660907 + Silent SNP C C G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr8:27660907C>G uc003xgg.2 + 11 1841 c.1758C>G c.(1756-1758)ACC>ACG p.T586T ESCO2_uc010luy.1_Intron NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN establishment of cohesion 1 homolog 2 586 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) TATTTGCAACCAAGTACTGCA 0.358000 SC_Phocomelia_syndrome SULF1 23213 broad.mit.edu 37 8 70536309 70536309 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr8:70536309G>A uc010lza.1 + 15 2444 c.1727G>A c.(1726-1728)CGT>CAT p.R576H SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyg.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 576 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ATTGCTAAGCGTCATGATGAA 0.498000 FREM1 158326 broad.mit.edu 37 9 14748594 14748594 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr9:14748594G>A uc003zlm.2 - 31 6191 c.5601C>T c.(5599-5601)AGC>AGT p.S1867S FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_Intron|FREM1_uc003zll.2_Silent_p.S403S NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1867 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TCTCCCATGTGCTGTGCTTGC 0.493000 C9orf131 138724 broad.mit.edu 37 9 35045805 35045805 + Missense_Mutation SNP A A G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr9:35045805A>G uc003zvw.2 + 2 3208 c.3179A>G c.(3178-3180)CAA>CGA p.Q1060R C9orf131_uc003zvu.2_Missense_Mutation_p.Q1012R|C9orf131_uc003zvv.2_Missense_Mutation_p.Q987R|C9orf131_uc003zvx.2_Missense_Mutation_p.Q1025R NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 1060 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) AGGGGTTTGCAAAAGGTGTTA 0.512000 DAPK1 1612 broad.mit.edu 37 9 90321137 90321137 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr9:90321137G>A uc004apc.2 + 26 3289 c.3151G>A c.(3151-3153)GTG>ATG p.V1051M DAPK1_uc004apd.2_Missense_Mutation_p.V1051M|DAPK1_uc011ltg.1_Missense_Mutation_p.V985M|DAPK1_uc011lth.1_Missense_Mutation_p.V788M|DAPK1_uc004apg.2_Missense_Mutation_p.V28M NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 1051 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 GTTGCTGTCCGTGGAGACCCC 0.642000 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of ANKS6 203286 broad.mit.edu 37 9 101536246 101536246 + Silent SNP A A G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr9:101536246A>G uc004ayu.2 - 9 1755 c.1734T>C c.(1732-1734)CGT>CGC p.R578R ANKS6_uc004ayt.2_Silent_p.R277R|ANKS6_uc004ayv.1_Silent_p.R40R|ANKS6_uc004ayw.1_Silent_p.R160R|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 578 ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) TCCCGTTGTGACGCGTCCGGG 0.627000 IDH3G 3421 broad.mit.edu 37 X 153052343 153052343 + Silent SNP G G A rs141309746 TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chrX:153052343G>A uc004fip.2 - 10 1023 c.837C>T c.(835-837)ATC>ATT p.I279I IDH3G_uc004fio.2_Silent_p.I221I|IDH3G_uc004fiq.2_Silent_p.I279I|IDH3G_uc010num.2_Silent_p.I221I|IDH3G_uc004fir.2_Silent_p.I221I|IDH3G_uc004fit.1_Silent_p.I279I|IDH3G_uc004fis.2_Silent_p.I221I|IDH3G_uc004fiu.2_Silent_p.I55I NM_004135 NP_004126 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma isoform 279 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CATTGTTGACGATGTTGCCAT 0.607000 LRRC8B 23507 broad.mit.edu 37 1 90058582 90058582 + Frame_Shift_Del DEL A A - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr1:90058581_90058581GA>G uc001dni.3 + 7 2898 c.2391_2391GA>G c.(2389-2391)cagfs p.Q797fs LRRC8B_uc001dnh.3_Frame_Shift_Del_p.Q797fs|LRRC8B_uc001dnj.3_Frame_Shift_Del_p.Q797fs NM_001134476 NP_056165 Q6P9F7 LRC8B_HUMAN Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA. 797 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) AACGTTTACAGACGTGCTTAG 0.433 ZC3H15 55854 broad.mit.edu 37 2 187368933 187368934 + Frame_Shift_Ins INS - - GA TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr2:187368932_187368933T>TGA uc002upo.3 + 5 933_934 c.708_709T>TGA c.(706-711)attgagfs p.I236fs NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA. 236 Required for interaction with DRG1 (By similarity). cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding p.L235L(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) AAGATCTAATTGAGAGAGAGGT 0.327 TBCCD1 55171 broad.mit.edu 37 3 186272188 186272190 + In_Frame_Del DEL AGA AGA - rs144228045 TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr3:186272187_186272189TAGA>T uc003fqg.3 - 5 1527_1529 c.1398_1400TCTA>A c.(1396-1401)ttctat>ttAt p.466_467FY>L TBCCD1_uc011bry.2_In_Frame_Del_p.466_467FY>L|TBCCD1_uc003fqh.3_In_Frame_Del_p.370_371FY>L NM_018138 NP_060608 Q9NVR7 TBCC1_HUMAN Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA. 466 cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding p.F466L(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) AATAAATACATAGAATTCACAAG 0.443 TJP1 7082 broad.mit.edu 37 15 30065540 30065545 + In_Frame_Del DEL TCCAAA TCCAAA - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr15:30065539_30065544TTCCAAA>T uc001zcr.3 - 2 576_581 c.101_106TTTGGAA>A c.(100-108)tttggaatt>tAtt p.34_36FGI>Y TJP1_uc010azl.3_In_Frame_Del_p.22_24FGI>Y|TJP1_uc001zcq.3_In_Frame_Del_p.38_40FGI>Y|TJP1_uc001zcs.3_In_Frame_Del_p.34_36FGI>Y NM_003257 NP_003248 Q07157 ZO1_HUMAN Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA. 34 PDZ 1. cell-cell junction assembly|cellular component disassembly involved in apoptosis Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GATATTGCAATTCCAAATCCAAATCC 0.364 ABCA9 10350 broad.mit.edu 37 17 67004307 67004317 + Frame_Shift_Del DEL CCAGTGCTTGG CCAGTGCTTGG - rs143208550 byFrequency TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr17:67004306_67004316ACCAGTGCTTGG>A uc002jhu.3 - 23 3351_3361 c.3208_3218CCAAGCACTGGT>T c.(3208-3219)caagcactggtgfs p.Q1070fs ABCA9_uc010dez.3_Frame_Shift_Del_p.Q1070fs NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA. 1070 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GGAAACATCCACCAGTGCTTGGCCAAACCAG 0.370 LTBP4 8425 broad.mit.edu 37 19 41122902 41122902 + Frame_Shift_Del DEL C C - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr19:41122901_41122901GC>G uc002ooh.1 + 22 3120 c.3120_3120GC>G c.(3118-3120)cagfs p.Q1040fs LTBP4_uc002oog.1_Frame_Shift_Del_p.Q1003fs|LTBP4_uc002ooi.1_Frame_Shift_Del_p.Q973fs|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Intron|LTBP4_uc010xvp.1_Intron NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA. 1040 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGGCTATCAGCCCACGCCAG 0.592 SREBF2 6721 broad.mit.edu 37 22 42262865 42262866 + Frame_Shift_Del DEL GA GA - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac g.chr22:42262864_42262865GGA>G uc003bbi.3 + 1 287_288 c.118_119GGA>G c.(118-120)ggafs p.G40fs bK250D10.C22.8_uc003bba.1_Intron NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 40 Transcriptional activation (acidic). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TAATCAAGTGGGAGAGTTCCCT 0.450