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 CD1D 912 broad.mit.edu 37 1 158151309 158151309 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr1:158151309G>A uc001frr.2 + 3 625 c.126G>A c.(124-126)ACG>ACA p.T42T CD1D_uc009wsr.1_Silent_p.T42T|CD1D_uc009wss.2_Silent_p.T42T|CD1D_uc009wst.1_5'UTR NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 42 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GCAGCTGGACGCGCACCGACG 0.627000 OR6N2 81442 broad.mit.edu 37 1 158746540 158746540 + Nonsense_Mutation SNP C C A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr1:158746540C>A uc010pir.1 - 1 886 c.886G>T c.(886-888)GAA>TAA p.E296* NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TTAATGATTTCCTTGTTACGA 0.408000 PITRM1 10531 broad.mit.edu 37 10 3185599 3185599 + Missense_Mutation SNP G G A rs35046873 by1000genomes TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr10:3185599G>A uc010qah.1 - 20 2365 c.2333C>T c.(2332-2334)ACG>ATG p.T778M PITRM1_uc001igr.1_Missense_Mutation_p.T876M|PITRM1_uc001igs.1_Translation_Start_Site|PITRM1_uc001igt.1_Missense_Mutation_p.T876M|PITRM1_uc009xhv.1_Missense_Mutation_p.T442M|PITRM1_uc001igu.1_Missense_Mutation_p.T802M|PITRM1_uc010qai.1_Missense_Mutation_p.T847M|uc001igv.1_Intron E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 778 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 ATCTGGGTCCGTGTAGGGGAC 0.572000 ANO9 338440 broad.mit.edu 37 11 421037 421037 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr11:421037G>A uc001lpi.2 - 17 1483 c.1398C>T c.(1396-1398)CAC>CAT p.H466H ANO9_uc001lph.2_Silent_p.H159H|ANO9_uc010qvv.1_Silent_p.H322H NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 466 Extracellular (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 AGCCGCTGGCGTGGCACTGCG 0.647000 NLRP14 338323 broad.mit.edu 37 11 7064768 7064768 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr11:7064768C>T uc001mfb.1 + 4 1834 c.1511C>T c.(1510-1512)TCC>TTC p.S504F NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 504 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GGGAACCCTTCCTGCCAGCCT 0.408000 CD6 923 broad.mit.edu 37 11 60783242 60783242 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr11:60783242C>T uc001nqq.2 + 9 1668 c.1445C>T c.(1444-1446)TCG>TTG p.S482L CD6_uc001nqp.2_Missense_Mutation_p.S482L|CD6_uc001nqr.2_Missense_Mutation_p.S450L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Intron NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 482 Cytoplasmic (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 GACTCTGGCTCGGACTCAGAC 0.632000 KCNK4 50801 broad.mit.edu 37 11 64064717 64064717 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr11:64064717G>A uc001nzj.1 + 4 763 c.440G>A c.(439-441)CGC>CAC p.R147H KCNK4_uc009ypl.1_Missense_Mutation_p.A120T|KCNK4_uc001nzk.1_Missense_Mutation_p.A81T|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.A81T|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.R147H|KCNK4_uc001nzo.2_Missense_Mutation_p.R147H|KCNK4_uc001nzp.1_5'UTR NM_033310 NP_201567 Q9NYG8 KCNK4_HUMAN TRAAK 147 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 TCCTCCCTGCGCCATGGCATC 0.637000 ATM 472 broad.mit.edu 37 11 108128225 108128225 + Silent SNP A A T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr11:108128225A>T uc001pkb.1 + 15 2653 c.2268A>T c.(2266-2268)GCA>GCT p.A756A ATM_uc009yxr.1_Silent_p.A756A NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 756 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGCAATGTGCAGGAGAAAGTA 0.328000 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) TBCEL 219899 broad.mit.edu 37 11 120924372 120924372 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr11:120924372G>A uc009zay.2 + 4 464 c.386G>A c.(385-387)CGC>CAC p.R129H TBCEL_uc001pxo.2_Missense_Mutation_p.R129H|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_Intron NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 129 LRR 3. cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TCTGGGGTTCGCAAACTTGTC 0.483000 ANKRD13A 88455 broad.mit.edu 37 12 110474086 110474086 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr12:110474086G>A uc001tpx.2 + 14 1789 c.1530G>A c.(1528-1530)TCG>TCA p.S510S ANKRD13A_uc010sxw.1_Silent_p.S509S|ANKRD13A_uc001tpy.2_Silent_p.S110S|ANKRD13A_uc001tpz.2_Silent_p.S148S|ANKRD13A_uc001tqa.2_Missense_Mutation_p.E95K NM_033121 NP_149112 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13 510 0 GACCAGCTTCGAATGGAGGGA 0.478000 RB1 5925 broad.mit.edu 37 13 48951169 48951169 + Missense_Mutation SNP A A T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr13:48951169A>T uc001vcb.2 + 13 1497 c.1331A>T c.(1330-1332)CAG>CTG p.Q444L RB1_uc010act.1_Missense_Mutation_p.Q145L NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 444 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(8)|p.Q444H(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTGGATCACAGGTAACTTGA 0.333000 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) ARID4A 5926 broad.mit.edu 37 14 58795012 58795012 + Nonsense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr14:58795012C>T uc001xdp.2 + 9 894 c.640C>T c.(640-642)CGA>TGA p.R214* ARID4A_uc001xdo.2_Nonsense_Mutation_p.R214*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.R214* NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 214 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 GTGTTTAGTTCGATCATTTAT 0.338000 TTLL13 440307 broad.mit.edu 37 15 90799471 90799471 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr15:90799471G>A uc002bpd.1 + 6 935 c.647G>A c.(646-648)CGA>CAA p.R216Q TTLL13_uc002bpe.1_Intron NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 216 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) TTCATTACCCGAAATCCCCGG 0.547000 GRIN2A 2903 broad.mit.edu 37 16 9934865 9934865 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr16:9934865G>A uc002czo.3 - 6 1973 c.1425C>T c.(1423-1425)TAC>TAT p.Y475Y GRIN2A_uc010uym.1_Silent_p.Y475Y|GRIN2A_uc010uyn.1_Silent_p.Y318Y|GRIN2A_uc002czr.3_Silent_p.Y475Y NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 475 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATAGAGGTCGTAAGTAAACT 0.423000 GPT2 84706 broad.mit.edu 37 16 46956237 46956237 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr16:46956237G>A uc002eel.2 + 9 1215 c.1121G>A c.(1120-1122)CGC>CAC p.R374H GPT2_uc002eem.2_Missense_Mutation_p.R274H|GPT2_uc002een.2_5'Flank NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 374 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTGTCGGTGCGCCTGTGCCCC 0.607000 DHX38 9785 broad.mit.edu 37 16 72130190 72130190 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr16:72130190G>A uc002fcb.2 + 2 489 c.134G>A c.(133-135)CGC>CAC p.R45H TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.2_5'Flank|TXNL4B_uc010vmn.1_5'Flank|TXNL4B_uc010vmo.1_5'Flank|DHX38_uc010vmp.1_Missense_Mutation_p.R45H|DHX38_uc010cgn.1_5'Flank NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 45 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) CCTGCTCCCCGCCCTTCATTA 0.552000 SLC6A4 6532 broad.mit.edu 37 17 28539849 28539849 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr17:28539849C>T uc002hey.3 - 9 1657 c.1113G>A c.(1111-1113)ACG>ACA p.T371T SLC6A4_uc010csg.2_5'Flank NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 371 Helical; Name=7; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) AAACGAAGCTCGTCATGCAGT 0.542000 DCC 1630 broad.mit.edu 37 18 50741940 50741940 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr18:50741940C>T uc002lfe.1 + 12 2471 c.1884C>T c.(1882-1884)AAC>AAT p.N628N DCC_uc010xdr.1_Silent_p.N476N|DCC_uc010dpf.1_Silent_p.N283N NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 628 Extracellular (Potential).|Fibronectin type-III 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CGCCTCAGAACGTCTCCCTGG 0.398000 SAFB 6294 broad.mit.edu 37 19 5667069 5667069 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr19:5667069C>T uc002mcf.2 + 18 2400 c.2347C>T c.(2347-2349)CGC>TGC p.R783C SAFB_uc002mcg.2_Missense_Mutation_p.R783C|SAFB_uc002mce.3_Missense_Mutation_p.R782C|SAFB_uc010xir.1_Missense_Mutation_p.R782C|SAFB_uc010xis.1_Missense_Mutation_p.R714C|SAFB_uc010xit.1_Missense_Mutation_p.R625C|SAFB_uc010xiu.1_Missense_Mutation_p.R582C NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 783 Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TTACCCAGAACGCCATGGAGG 0.612000 TPO 7173 broad.mit.edu 37 2 1544475 1544475 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr2:1544475G>A uc002qww.2 + 16 2819 c.2728G>A c.(2728-2730)GCA>ACA p.A910T TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A853T|TPO_uc002qwr.2_Missense_Mutation_p.A910T|TPO_uc002qwx.2_Missense_Mutation_p.A853T|TPO_uc010yio.1_Missense_Mutation_p.A737T|TPO_uc010yip.1_Missense_Mutation_p.A866T|TPO_uc002qwy.1_Missense_Mutation_p.A206T|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 910 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCAGCGGGCCGCAGCTCAGGA 0.642000 CSRNP3 80034 broad.mit.edu 37 2 166535704 166535704 + Missense_Mutation SNP A A G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr2:166535704A>G uc002udf.2 + 7 1575 c.1199A>G c.(1198-1200)CAT>CGT p.H400R CSRNP3_uc002udg.2_Missense_Mutation_p.H400R NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 400 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TTGGGCACCCATGCCGAAGTT 0.378000 TTN 7273 broad.mit.edu 37 2 179586749 179586749 + Silent SNP A A C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr2:179586749A>C uc010zfg.1 - 75 19133 c.18909T>G c.(18907-18909)ACT>ACG p.T6303T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2964T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7230 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTTGACCAAGTGATTCGCA 0.418000 DNAH7 56171 broad.mit.edu 37 2 196825572 196825572 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr2:196825572C>T uc002utj.3 - 18 2404 c.2303G>A c.(2302-2304)CGT>CAT p.R768H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 768 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTCATAAAGACGAAGATAAGG 0.403000 ACSS2 55902 broad.mit.edu 37 20 33508811 33508811 + Missense_Mutation SNP T T G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr20:33508811T>G uc002xbd.2 + 10 1267 c.1146T>G c.(1144-1146)TTT>TTG p.F382L ACSS2_uc002xbc.2_Missense_Mutation_p.F287L|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.F395L|ACSS2_uc002xbe.2_Missense_Mutation_p.F90L|ACSS2_uc002xbf.2_Intron NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 382 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGGGTCAGTTTGAGGGGATTC 0.507000 SLC12A5 57468 broad.mit.edu 37 20 44664476 44664476 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr20:44664476G>A uc010zxl.1 + 4 485 c.409G>A c.(409-411)GTC>ATC p.V137I SLC12A5_uc002xra.2_Missense_Mutation_p.V114I|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.V114I NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 137 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity p.V114I(1) ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CATCTTTGGCGTCATCCTCTT 0.602000 MRAS 22808 broad.mit.edu 37 3 138116252 138116252 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr3:138116252G>A uc003esh.3 + 3 841 c.280G>A c.(280-282)GTC>ATC p.V94I MRAS_uc011bmi.1_Missense_Mutation_p.V18I|MRAS_uc003esi.3_Missense_Mutation_p.V94I|MRAS_uc011bmj.1_Missense_Mutation_p.V18I NM_012219 NP_036351 O14807 RASM_HUMAN muscle RAS oncogene homolog precursor 94 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CGTCTACTCCGTCACTGACAA 0.577000 KLHL24 54800 broad.mit.edu 37 3 183368817 183368817 + Missense_Mutation SNP A A C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr3:183368817A>C uc003flv.2 + 3 968 c.673A>C c.(673-675)AAA>CAA p.K225Q KLHL24_uc003flw.2_Missense_Mutation_p.K225Q|KLHL24_uc003flx.2_Missense_Mutation_p.K225Q NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 225 BACK. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TGTTATTGGTAAAGAGGAGAT 0.423000 TP63 8626 broad.mit.edu 37 3 189582154 189582154 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr3:189582154C>T uc003fry.2 + 5 802 c.713C>T c.(712-714)ACG>ATG p.T238M TP63_uc003frx.2_Missense_Mutation_p.T238M|TP63_uc003frz.2_Missense_Mutation_p.T238M|TP63_uc010hzc.1_Missense_Mutation_p.T238M|TP63_uc003fsa.2_Missense_Mutation_p.T144M|TP63_uc003fsb.2_Missense_Mutation_p.T144M|TP63_uc003fsc.2_Missense_Mutation_p.T144M|TP63_uc003fsd.2_Missense_Mutation_p.T144M|TP63_uc010hzd.1_Missense_Mutation_p.T59M|TP63_uc003fse.1_Missense_Mutation_p.T119M NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 238 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GAGCACGTCACGGAGGTGGTG 0.517000 Hay-Wells_syndrome HNSCC(45;0.13) WDFY3 23001 broad.mit.edu 37 4 85715865 85715865 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr4:85715865G>A uc003hpd.2 - 21 3702 c.3294C>T c.(3292-3294)TCC>TCT p.S1098S NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1098 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AACTTAAGCCGGAGGGAGGAG 0.348000 MARCH1 55016 broad.mit.edu 37 4 164466833 164466833 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr4:164466833G>A uc003iqs.1 - 7 1463 c.486C>T c.(484-486)CAC>CAT p.H162H MARCH1_uc003iqr.1_Silent_p.H145H NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 162 Helical; (Potential). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCGCGATTACGTGGAATGTGA 0.428000 PCSK1 5122 broad.mit.edu 37 5 95768636 95768636 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr5:95768636C>T uc003kls.1 - 1 317 c.111G>A c.(109-111)GCG>GCA p.A37A NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 37 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGGGGATCTCCGCTGCCCATT 0.547000 PCDHA11 56138 broad.mit.edu 37 5 140250589 140250589 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr5:140250589G>A uc003lia.2 + 1 2759 c.1901G>A c.(1900-1902)CGT>CAT p.R634H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R634H NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 634 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACAACGCGTGCCCTGGAC 0.667000 PCDHB6 56130 broad.mit.edu 37 5 140530549 140530549 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr5:140530549C>T uc003lir.2 + 1 711 c.711C>T c.(709-711)AAC>AAT p.N237N PCDHB6_uc011dah.1_Silent_p.N101N NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 237 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAATGACAACGTCCCCGAGT 0.562000 PCDHB11 56125 broad.mit.edu 37 5 140581312 140581312 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr5:140581312C>T uc003liy.2 + 1 1965 c.1965C>T c.(1963-1965)ACC>ACT p.T655T PCDHB11_uc011daj.1_Silent_p.T290T NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 655 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCGGCCACCGCCACGCTGC 0.721000 FAM71B 153745 broad.mit.edu 37 5 156592829 156592829 + Silent SNP T T C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr5:156592829T>C uc003lwn.2 - 1 451 c.351A>G c.(349-351)CTA>CTG p.L117L NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 117 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCGTGAGCTCTAGAGTCTTGA 0.527000 DLL1 28514 broad.mit.edu 37 6 170592163 170592163 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr6:170592163G>A uc003qxm.2 - 10 2549 c.2079C>T c.(2077-2079)GAC>GAT p.D693D NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 693 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) AACAGCCCGAGTCCGGCCTTT 0.463000 HOXA13 3209 broad.mit.edu 37 7 27239615 27239615 + Missense_Mutation SNP C C A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr7:27239615C>A uc003szb.1 - 1 111 c.82G>T c.(82-84)GCC>TCC p.A28S uc003szc.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN homeobox A13 28 skeletal system development nucleus sequence-specific DNA binding breast(1) 1 AGCTCGTCGGCCACCAGGCCG 0.408000 T NUP98 AML TBL2 26608 broad.mit.edu 37 7 72984991 72984991 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr7:72984991C>T uc003tyh.2 - 7 1324 c.1190G>A c.(1189-1191)CGG>CAG p.R397Q TBL2_uc011kex.1_Missense_Mutation_p.R361Q|TBL2_uc010lbg.2_Missense_Mutation_p.R302Q|TBL2_uc003tyi.2_Missense_Mutation_p.R232Q|TBL2_uc011key.1_Missense_Mutation_p.R268Q|TBL2_uc010lbh.2_Missense_Mutation_p.R302Q NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 397 WD 7. 0 Lung NSC(55;0.0659)|all_lung(88;0.152) GTGAAACAGCCGCACCGCCCG 0.632000 TFPI2 7980 broad.mit.edu 37 7 93519622 93519622 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr7:93519622G>A uc003umy.1 - 2 173 c.98C>T c.(97-99)GCG>GTG p.A33V GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.A33V|TFPI2_uc003una.1_Intron|TFPI2_uc003unb.1_Missense_Mutation_p.A33V|TFPI2_uc010lfg.1_Intron NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 33 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) ACAGATCTCCGCGTTATTTCC 0.572000 ZNF775 285971 broad.mit.edu 37 7 150093795 150093796 + Missense_Mutation DNP CC CC AT TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr7:150093795_150093796CC>AT uc003whf.1 + 3 351_352 c.226_227CC>AT c.(226-228)CCT>ATT p.P76I NM_173680 NP_775951 Q96BV0 ZN775_HUMAN zinc finger protein 775 76 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGGTGGGCCCCTCCCACTGAG 0.703000 ZMAT4 79698 broad.mit.edu 37 8 40554842 40554842 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr8:40554842C>T uc003xnr.2 - 4 417 c.271G>A c.(271-273)GAT>AAT p.D91N ZMAT4_uc003xns.2_Missense_Mutation_p.D91N NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 91 Matrin-type 2. nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TAATGGGAATCGGCCACCACC 0.502000 TOX 9760 broad.mit.edu 37 8 59728015 59728015 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr8:59728015G>A uc003xtw.1 - 7 1495 c.1274C>T c.(1273-1275)CCG>CTG p.P425L NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 425 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GTGAAGAGGCGGGCTGATCTG 0.587000 PI15 51050 broad.mit.edu 37 8 75757681 75757681 + Nonsense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr8:75757681G>A uc003yal.2 + 5 769 c.590G>A c.(589-591)TGG>TAG p.W197* uc003yak.1_Intron|PI15_uc003yam.2_Nonsense_Mutation_p.W197* NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 197 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) ATGAATGTTTGGGGATCTGTG 0.413000 CIZ1 25792 broad.mit.edu 37 9 130940663 130940663 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr9:130940663C>T uc004btt.2 - 9 1768 c.1605G>A c.(1603-1605)GCG>GCA p.A535A CIZ1_uc004btr.2_Silent_p.A507A|CIZ1_uc004bts.2_Silent_p.A506A|CIZ1_uc011maq.1_Silent_p.A474A|CIZ1_uc004btu.2_Silent_p.A455A|CIZ1_uc011mar.1_Silent_p.A434A|CIZ1_uc011mas.1_Silent_p.A565A|CIZ1_uc004btw.2_Silent_p.A479A|CIZ1_uc004btv.2_Silent_p.A535A NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 535 nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 GCATCTCTCTCGCTCTGTTTT 0.587000 C9orf171 389799 broad.mit.edu 37 9 135374767 135374767 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr9:135374767C>T uc004cbn.2 + 4 460 c.412C>T c.(412-414)CGC>TGC p.R138C C9orf171_uc004cbo.2_Missense_Mutation_p.R102C NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 138 ovary(4)|large_intestine(1) 5 AGCCATCGGACGCTGGAACGT 0.642000 NELF 26012 broad.mit.edu 37 9 140350865 140350865 + Silent SNP T T C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr9:140350865T>C uc004cna.2 - 4 934 c.702A>G c.(700-702)CAA>CAG p.Q234Q C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_Silent_p.Q2Q|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Silent_p.Q234Q|NELF_uc004cmz.2_Silent_p.Q234Q|NELF_uc004cnc.2_Silent_p.Q234Q|NELF_uc004cnb.2_Silent_p.Q234Q NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 234 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) AGACTCACGCTTGCATAGTTG 0.532000 MAP7D2 256714 broad.mit.edu 37 X 20081624 20081624 + Nonsense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chrX:20081624G>A uc004czr.1 - 3 299 c.280C>T c.(280-282)CGA>TGA p.R94* MAP7D2_uc011mji.1_Nonsense_Mutation_p.R50*|MAP7D2_uc010nfo.1_Nonsense_Mutation_p.R94*|MAP7D2_uc011mjj.1_Nonsense_Mutation_p.R94*|MAP7D2_uc004czs.1_Nonsense_Mutation_p.R50* NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 94 Potential. ovary(2)|breast(1) 3 TTTCGCCATCGCTCCTCCATT 0.547000 PLXNB3 5365 broad.mit.edu 37 X 153036951 153036951 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chrX:153036951C>T uc004fii.2 + 14 2532 c.2358C>T c.(2356-2358)TAC>TAT p.Y786Y PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.Y468Y|PLXNB3_uc010nuk.2_Silent_p.Y809Y|PLXNB3_uc011mzd.1_Silent_p.Y425Y|PLXNB3_uc004fij.1_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 786 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 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) TGATCCTGTACGACTGCGCCA 0.667000 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653