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 MIIP 60672 broad.mit.edu 37 1 12091805 12091805 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr1:12091805G>A uc001ato.1 + 10 1287 c.1107G>A c.(1105-1107)CCG>CCA p.P369P NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 369 ovary(1) 1 TGCTGCCCCCGACCCCGACCT 0.652000 CSMD2 114784 broad.mit.edu 37 1 34006124 34006124 + Splice_Site SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr1:34006124C>T uc001bxn.1 - 59 9228 c.9199_splice c.e59+1 p.P3067_splice CSMD2_uc001bxm.1_Splice_Site_p.P3211_splice NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AAGCAACTTACGGAAACACTG 0.582000 FLG 2312 broad.mit.edu 37 1 152275780 152275780 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr1:152275780G>A uc001ezu.1 - 3 11618 c.11582C>T c.(11581-11583)TCC>TTC p.S3861F NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3861 Filaggrin 23.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTAACACTGGATCCCTGGCG 0.577000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152283700 152283700 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr1:152283700C>T uc001ezu.1 - 3 3698 c.3662G>A c.(3661-3663)CGT>CAT p.R1221H uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1221 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTGTCCTTACGAGTTTGTCT 0.567000 Ichthyosis CNTN2 6900 broad.mit.edu 37 1 205039136 205039136 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr1:205039136G>A uc001hbr.2 + 18 2647 c.2378G>A c.(2377-2379)CGC>CAC p.R793H CNTN2_uc001hbq.1_Missense_Mutation_p.R684H|CNTN2_uc001hbs.2_Missense_Mutation_p.R581H NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 793 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGCTACAACCGCCGCGGGGAT 0.662000 OBSCN 84033 broad.mit.edu 37 1 228399542 228399542 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr1:228399542G>A uc009xez.1 + 2 102 c.58G>A c.(58-60)GTG>ATG p.V20M OBSCN_uc001hsn.2_Missense_Mutation_p.V20M|uc001hsm.1_Intron NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 20 Ig-like 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CAAGGCCTTCGTGGTGTCGGT 0.677000 CAMK1D 57118 broad.mit.edu 37 10 12866468 12866468 + Missense_Mutation SNP G G C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr10:12866468G>C uc001ilo.2 + 9 1073 c.838G>C c.(838-840)GCT>CCT p.A280P CAMK1D_uc001iln.2_Missense_Mutation_p.A280P NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 280 Autoinhibitory domain (By similarity). calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) TTTCAGGATCGCTGGTGACAC 0.527000 MYO3A 53904 broad.mit.edu 37 10 26241113 26241113 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr10:26241113A>C uc001isn.2 + 3 434 c.74A>C c.(73-75)GAG>GCG p.E25A MYO3A_uc009xko.1_Missense_Mutation_p.E25A|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.E25A|MYO3A_uc001ism.2_Missense_Mutation_p.E25A NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 25 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.E25_I27>I(1) ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GAAATCACTGAGACAATTGGC 0.328000 EXOSC1 51013 broad.mit.edu 37 10 99196244 99196244 + Missense_Mutation SNP G G C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr10:99196244G>C uc001kni.2 - 8 572 c.546C>G c.(544-546)TTC>TTG p.F182L EXOSC1_uc009xvp.1_RNA NM_016046 NP_057130 Q9Y3B2 EXOS1_HUMAN exosomal core protein CSL4 182 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding 0 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) CTACTTTCCGGAATTCTTTAG 0.507000 HBG1 3047 broad.mit.edu 37 11 5269648 5269648 + Missense_Mutation SNP C C T rs41330850 TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr11:5269648C>T uc001mah.1 - 3 438 c.385G>A c.(385-387)GCT>ACT p.A129T HBG2_uc001mai.1_Missense_Mutation_p.A129T NM_000559 NP_000550 P69891 HBG1_HUMAN A-gamma globin 129 A -> T (in Baskent). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCAGGAAGCCTGCACCTCA 0.502000 OR10A4 283297 broad.mit.edu 37 11 6898750 6898750 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr11:6898750A>G uc010rat.1 + 1 872 c.872A>G c.(871-873)TAC>TGC p.Y291C NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 291 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCCATCATCTACAGCTCAAGG 0.502000 RBM7 10179 broad.mit.edu 37 11 114273598 114273598 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr11:114273598A>G uc001pov.2 + 3 318 c.308A>G c.(307-309)CAT>CGT p.H103R C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.3_5'Flank|RBM7_uc001pow.2_Missense_Mutation_p.H103R|RBM7_uc001pox.2_5'UTR NM_016090 NP_057174 Q9Y580 RBM7_HUMAN RNA binding motif protein 7 103 meiosis nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) CCCCAACATCATGTTGGAAAT 0.338000 POU2F3 25833 broad.mit.edu 37 11 120168982 120168982 + Silent SNP C C T rs139585451 TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr11:120168982C>T uc001pxc.2 + 4 243 c.141C>T c.(139-141)ACC>ACT p.T47T POU2F3_uc010rzk.1_5'UTR|POU2F3_uc010rzl.1_5'UTR NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 47 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) AGATTAAAACCGAAGATCTCA 0.542000 GRIK4 2900 broad.mit.edu 37 11 120702685 120702685 + Silent SNP C C T rs148308915 byFrequency TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr11:120702685C>T uc001pxn.2 + 7 923 c.636C>T c.(634-636)ACC>ACT p.T212T GRIK4_uc009zav.1_Silent_p.T212T|GRIK4_uc009zaw.1_Silent_p.T212T|GRIK4_uc009zax.1_Silent_p.T212T NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 212 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) ACGACAAGACCGCCACCATCA 0.637000 PTPN6 5777 broad.mit.edu 37 12 7065608 7065608 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr12:7065608C>T uc001qsb.2 + 9 1193 c.951C>T c.(949-951)AAC>AAT p.N317N PTPN6_uc001qsa.1_Silent_p.N319N|PTPN6_uc010sfr.1_Silent_p.N278N|PTPN6_uc009zfl.1_Silent_p.N317N|PTPN6_uc010sfs.1_Silent_p.N305N NM_002831 NP_002822 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 317 Tyrosine-protein phosphatase. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1) 1 CTGATGAGAACGCTAAGACCT 0.607000 ERBB3 2065 broad.mit.edu 37 12 56489547 56489547 + Missense_Mutation SNP T T A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr12:56489547T>A uc001sjh.2 + 17 2205 c.2012T>A c.(2011-2013)ATT>AAT p.I671N ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.I28N|ERBB3_uc010sqc.1_Missense_Mutation_p.I612N|ERBB3_uc009zok.2_Missense_Mutation_p.I113N|ERBB3_uc001sjk.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 671 Cytoplasmic (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GGGCGCCGGATTCAGAATAAA 0.453000 SDR9C7 121214 broad.mit.edu 37 12 57323335 57323335 + Missense_Mutation SNP C C T rs141626978 TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr12:57323335C>T uc010sqw.1 - 3 563 c.563G>A c.(562-564)CGT>CAT p.R188H NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 188 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 GTAGAGCTCACGCCTGGGAAA 0.532000 DAO 1610 broad.mit.edu 37 12 109286789 109286789 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr12:109286789C>T uc001tnr.3 + 6 637 c.484C>T c.(484-486)CGG>TGG p.R162W DAO_uc001tnq.3_Intron|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 162 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 GTTCTTCCAGCGGAAAGTGGA 0.557000 ACAD10 80724 broad.mit.edu 37 12 112140003 112140003 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr12:112140003A>G uc001tsq.2 + 3 425 c.225A>G c.(223-225)ATA>ATG p.I75M ACAD10_uc009zvw.2_Missense_Mutation_p.I75M|ACAD10_uc001tso.3_Missense_Mutation_p.I75M|ACAD10_uc001tsp.2_Missense_Mutation_p.I75M|ACAD10_uc009zvx.2_Missense_Mutation_p.I75M NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 75 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 CTGGAACTATATTAAAGGCCT 0.413000 ZNF605 100289635 broad.mit.edu 37 12 133501996 133501996 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr12:133501996G>A uc001ulh.2 - 5 2214 c.1889C>T c.(1888-1890)TCG>TTG p.S630L ZNF605_uc001uli.2_Missense_Mutation_p.S661L|ZNF605_uc001ulj.2_Missense_Mutation_p.S630L NM_183238 NP_899061 Q86T29 ZN605_HUMAN zinc finger protein 605 isoform 1 630 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00227)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06) CATAAGCTGCGACTTCCTGTT 0.383000 KLHL1 57626 broad.mit.edu 37 13 70314635 70314635 + Missense_Mutation SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr13:70314635T>C uc001vip.2 - 8 2487 c.1693A>G c.(1693-1695)AGC>GGC p.S565G KLHL1_uc010thm.1_Missense_Mutation_p.S504G NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 565 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTCAGATAGCTCCAGCCATCA 0.383000 RALGAPA1 253959 broad.mit.edu 37 14 36143463 36143463 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr14:36143463A>C uc001wti.2 - 23 3713 c.3322T>G c.(3322-3324)TCA>GCA p.S1108A RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.S1108A|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S1121A|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1155A NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1108 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TTATCAGTTGAAATGCCAAGG 0.323000 RIN3 79890 broad.mit.edu 37 14 93118183 93118183 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr14:93118183G>A uc001yap.2 + 6 941 c.789G>A c.(787-789)CCG>CCA p.P263P RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.P188P|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 263 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) GCCCTTTGCCGCCCACCTCTG 0.453000 CAPN3 825 broad.mit.edu 37 15 42652189 42652189 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr15:42652189G>A uc001zpn.1 + 1 492 c.186G>A c.(184-186)GAG>GAA p.E62E CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Silent_p.E62E|CAPN3_uc001zpp.1_Silent_p.E62E NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 62 muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) AGACATTCGAGCAACTTCACA 0.473000 LOXL1 4016 broad.mit.edu 37 15 74239441 74239441 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr15:74239441C>T uc002awc.1 + 4 1719 c.1383C>T c.(1381-1383)TAC>TAT p.Y461Y LOXL1_uc002awd.1_5'Flank NM_005576 NP_005567 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 preproprotein 461 Lysyl-oxidase like. protein deamination extracellular space copper ion binding 0 TCAGCCACTACGACCTACTGG 0.592000 ZNF710 374655 broad.mit.edu 37 15 90611201 90611201 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr15:90611201G>A uc002bov.1 + 2 955 c.832G>A c.(832-834)GTG>ATG p.V278M NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN zinc finger protein 710 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GGACATCAACGTGCAGATTGA 0.622000 E4F1 1877 broad.mit.edu 37 16 2284270 2284270 + Missense_Mutation SNP C C T rs142977286 TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr16:2284270C>T uc002cpm.2 + 10 1522 c.1474C>T c.(1474-1476)CGC>TGC p.R492C E4F1_uc010bsi.2_Missense_Mutation_p.R492C|E4F1_uc010bsj.2_Intron|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 492 Mediates interaction with CDKN2A.|Interaction with BMI1.|C2H2-type 6. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GCGCCGCTTCCGCTGTGGCGA 0.667000 C16orf53 79447 broad.mit.edu 37 16 29828032 29828032 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr16:29828032C>T uc002dug.3 + 1 505 c.186C>T c.(184-186)TCC>TCT p.S62S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_024516 NP_078792 Q9BTK6 PA1_HUMAN PTIP-associated 1 protein 62 Glu-rich. 0 GTGAGGGGTCCGGGGGCGAGG 0.716000 OREG0023722 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMCO7 79613 broad.mit.edu 37 16 68934404 68934404 + Missense_Mutation SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr16:68934404T>C uc002ewi.3 + 8 1457 c.1445T>C c.(1444-1446)CTT>CCT p.L482P NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 482 Helical; (Potential). integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) CTGGGAGTGCTTTTTCTTCTC 0.388000 ST3GAL2 6483 broad.mit.edu 37 16 70428945 70428945 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr16:70428945G>A uc002eyw.2 - 2 2581 c.473C>T c.(472-474)TCG>TTG p.S158L ST3GAL2_uc002eyx.2_Missense_Mutation_p.S158L NM_006927 NP_008858 Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 158 Lumenal (Potential). amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity ovary(1) 1 Ovarian(137;0.0694) CAGGTTGCCCGAGTTCCCCAC 0.652000 PRPF8 10594 broad.mit.edu 37 17 1559814 1559814 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr17:1559814G>A uc002fte.2 - 36 5779 c.5665C>T c.(5665-5667)CTC>TTC p.L1889F NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1889 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGGAGTTGGAGCTCCGATCCT 0.478000 KRT25 147183 broad.mit.edu 37 17 38904587 38904587 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr17:38904587C>T uc002hve.2 - 8 1356 c.1295G>A c.(1294-1296)CGC>CAC p.R432H NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 432 Tail. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) TATTTTGCTGCGTTGGTCTAC 0.403000 KIF2B 84643 broad.mit.edu 37 17 51900906 51900906 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr17:51900906G>A uc002iua.2 + 1 668 c.512G>A c.(511-513)CGA>CAA p.R171Q uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 171 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CAGGAGATCCGAGCTAGACGC 0.532000 PIK3C3 5289 broad.mit.edu 37 18 39637994 39637994 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr18:39637994C>T uc002lap.2 + 22 2469 c.2411C>T c.(2410-2412)ACG>ATG p.T804M PIK3C3_uc010xcl.1_Missense_Mutation_p.T741M|PIK3C3_uc002laq.2_Missense_Mutation_p.T289M NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 804 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 CAGTGTTACACGGCTTTCCTC 0.398000 TSP Lung(28;0.18) KATNAL2 83473 broad.mit.edu 37 18 44579393 44579393 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr18:44579393A>G uc002lco.2 + 2 243 c.49A>G c.(49-51)ATT>GTT p.I17V KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 89 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 ATACCCCAAAATTGTCAAAAA 0.338000 CXXC1 30827 broad.mit.edu 37 18 47812195 47812195 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr18:47812195C>T uc002leq.3 - 5 1296 c.563G>A c.(562-564)CGG>CAG p.R188Q CXXC1_uc002lep.3_Missense_Mutation_p.R45Q|CXXC1_uc002ler.3_Missense_Mutation_p.R188Q|CXXC1_uc010doy.2_Missense_Mutation_p.R188Q|CXXC1_uc002les.2_Missense_Mutation_p.R188Q NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 188 CXXC-type. histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTTCATGTCCCGACAGAAATC 0.552000 MUC16 94025 broad.mit.edu 37 19 9071751 9071751 + Missense_Mutation SNP T T G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr19:9071751T>G uc002mkp.2 - 3 15899 c.15695A>C c.(15694-15696)AAA>ACA p.K5232T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5234 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGGAAATTTTGCTAGAAGA 0.488000 CC2D1A 54862 broad.mit.edu 37 19 14031623 14031623 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr19:14031623G>A uc002mxo.2 + 14 1828 c.1529G>A c.(1528-1530)CGA>CAA p.R510Q CC2D1A_uc002mxp.2_Missense_Mutation_p.R510Q|CC2D1A_uc010dzh.2_Missense_Mutation_p.R79Q|CC2D1A_uc002mxq.1_Missense_Mutation_p.R155Q NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 510 Potential. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GCCGCACTGCGAGCCAAGCAG 0.647000 ZNF208 7757 broad.mit.edu 37 19 22155029 22155029 + Missense_Mutation SNP T T A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr19:22155029T>A uc002nqp.2 - 5 2656 c.2507A>T c.(2506-2508)AAG>ATG p.K836M ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ATGAGTTTTCTTATGTTTACT 0.368000 ZNF600 162966 broad.mit.edu 37 19 53269036 53269036 + Missense_Mutation SNP C C A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr19:53269036C>A uc002qab.3 - 3 2259 c.1973G>T c.(1972-1974)AGA>ATA p.R658I NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 658 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) AGGATGAATTCTCCTATGTCT 0.383000 APOB 338 broad.mit.edu 37 2 21229930 21229930 + Silent SNP G G A rs138010392 byFrequency TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr2:21229930G>A uc002red.2 - 26 9938 c.9810C>T c.(9808-9810)TTC>TTT p.F3270F NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3270 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACACATAGCCGAATGCCGACA 0.473000 HEATR5B 54497 broad.mit.edu 37 2 37289090 37289090 + Missense_Mutation SNP A A T rs147152129 TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr2:37289090A>T uc002rpp.1 - 11 1784 c.1688T>A c.(1687-1689)ATG>AAG p.M563K NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 563 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) ACCTAAAGTCATAAGTGCTCC 0.373000 GLI2 2736 broad.mit.edu 37 2 121712927 121712927 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr2:121712927G>A uc010flp.2 + 4 594 c.564G>A c.(562-564)GCG>GCA p.A188A GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Silent_p.A63A|GLI2_uc002tmw.1_Silent_p.A188A NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 188 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GCCACCCCGCGCCCTACGGGG 0.667000 PLCL1 5334 broad.mit.edu 37 2 198950136 198950136 + Missense_Mutation SNP T T G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr2:198950136T>G uc010fsp.2 + 2 2186 c.1895T>G c.(1894-1896)GTT>GGT p.V632G PLCL1_uc002uuv.3_Missense_Mutation_p.V553G NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 632 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GAGGATTTTGTTAATTATAAT 0.378000 ANKRD5 63926 broad.mit.edu 37 20 10023849 10023849 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr20:10023849C>T uc002wno.2 + 4 819 c.426C>T c.(424-426)GTC>GTT p.V142V uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.V142V|ANKRD5_uc010gbz.2_5'UTR NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 142 calcium ion binding ovary(1)|breast(1) 2 GTGCAGATGTCAACAATTCTA 0.418000 MACROD2 140733 broad.mit.edu 37 20 15913947 15913947 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr20:15913947A>C uc002wou.2 + 11 1066 c.802A>C c.(802-804)AGT>CGT p.S268R MACROD2_uc002wot.2_Missense_Mutation_p.S268R|MACROD2_uc002woz.2_Missense_Mutation_p.S33R|MACROD2_uc002wpb.2_Missense_Mutation_p.S33R NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 268 Glu-rich. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GGAGAAGCAAAGTGTGGAAGA 0.418000 NINL 22981 broad.mit.edu 37 20 25457205 25457205 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr20:25457205G>A uc002wux.1 - 17 2796 c.2722C>T c.(2722-2724)CGC>TGC p.R908C NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 908 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GGCTGCATGCGTGACCACCTC 0.706000 BPIL1 80341 broad.mit.edu 37 20 31598877 31598877 + Missense_Mutation SNP G G C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr20:31598877G>C uc002wyj.2 + 3 351 c.157G>C c.(157-159)GTC>CTC p.V53L NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 53 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 GCAGGTCACTGTCCCTCATTT 0.617000 PREX1 57580 broad.mit.edu 37 20 47262400 47262400 + Silent SNP G G A rs141398646 byFrequency TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr20:47262400G>A uc002xtw.1 - 26 3524 c.3501C>T c.(3499-3501)CGC>CGT p.R1167R PREX1_uc002xtv.1_Silent_p.R464R NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1167 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGTAGGAGTCGCGATAACTCA 0.602000 CDH4 1002 broad.mit.edu 37 20 60503377 60503377 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr20:60503377C>T uc002ybn.1 + 12 1915 c.1901C>T c.(1900-1902)ACG>ATG p.T634M CDH4_uc002ybp.1_Missense_Mutation_p.T560M NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 634 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ATCAACATCACGGCGGCCGAC 0.622000 COL20A1 57642 broad.mit.edu 37 20 61945434 61945434 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr20:61945434C>T uc011aau.1 + 19 2469 c.2369C>T c.(2368-2370)CCA>CTA p.P790L COL20A1_uc011aav.1_Missense_Mutation_p.P611L NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 790 Fibronectin type-III 6. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GTCTCTGTGCCAGGAGCCAGG 0.642000 TMPRSS15 5651 broad.mit.edu 37 21 19666657 19666657 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr21:19666657C>T uc002ykw.2 - 21 2447 c.2416G>A c.(2416-2418)GGC>AGC p.G806S NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 806 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 AGCAGTCGGCCGCCATAATAC 0.557000 CHEK2 11200 broad.mit.edu 37 22 29121096 29121096 + Missense_Mutation SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr22:29121096T>C uc003adu.1 - 4 533 c.461A>G c.(460-462)AAC>AGC p.N154S CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.N154S|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.N197S|CHEK2_uc003adv.1_Missense_Mutation_p.N154S|CHEK2_uc003adw.1_Missense_Mutation_p.N154S|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Missense_Mutation_p.N154S|CHEK2_uc003adz.1_Intron NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 154 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 AATGTAAGAGTTTTTAGGACC 0.348000 F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer RBMS3 27303 broad.mit.edu 37 3 29938904 29938904 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr3:29938904C>T uc003cel.2 + 9 1056 c.826C>T c.(826-828)CGC>TGC p.R276C RBMS3_uc003cek.2_Missense_Mutation_p.R276C|RBMS3_uc010hfq.2_Missense_Mutation_p.R289C|RBMS3_uc003cem.2_Missense_Mutation_p.R275C|RBMS3_uc010hfr.2_Missense_Mutation_p.R276C NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 276 cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) TGCAACCAACCGCATGATTCC 0.433000 RHOA 387 broad.mit.edu 37 3 49405969 49405969 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr3:49405969A>C uc003cwu.2 - 3 445 c.169T>G c.(169-171)TTG>GTG p.L57V RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 57 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GTGTCCCACAAAGCCAACTCT 0.463000 ADRA2C 152 broad.mit.edu 37 4 3769558 3769558 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr4:3769558C>T uc003ghm.2 + 1 1263 c.1225C>T c.(1225-1227)CGC>TGC p.R409C ADRA2C_uc010icx.2_Intron NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 409 Extracellular (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CGGCATCTGCCGCGAGGCCTG 0.597000 TECRL 253017 broad.mit.edu 37 4 65188509 65188509 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr4:65188509G>A uc003hcv.2 - 4 442 c.333C>T c.(331-333)GGC>GGT p.G111G TECRL_uc003hcw.2_Silent_p.G111G NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 111 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 AAAAAGGCCCGCCtaaaataa 0.308000 TBCK 93627 broad.mit.edu 37 4 107154126 107154126 + Silent SNP T T G rs55956749 byFrequency TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr4:107154126T>G uc010ilv.2 - 17 1973 c.1608A>C c.(1606-1608)GTA>GTC p.V536V TBCK_uc003hyb.2_Silent_p.V279V|TBCK_uc003hye.2_Silent_p.V497V|TBCK_uc003hyc.2_Silent_p.V473V|TBCK_uc003hyd.2_Silent_p.V364V|TBCK_uc003hyf.2_Silent_p.V536V NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 536 Rab-GAP TBC. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 GATGAGACACTACCCAGGCTT 0.368000 FAT4 79633 broad.mit.edu 37 4 126412194 126412194 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr4:126412194A>C uc003ifj.3 + 17 14217 c.14217A>C c.(14215-14217)CAA>CAC p.Q4739H FAT4_uc011cgp.1_Missense_Mutation_p.Q2980H|FAT4_uc003ifi.1_Missense_Mutation_p.Q2216H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4739 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACACCTGCCAACCTGGCATTT 0.483000 FSTL5 56884 broad.mit.edu 37 4 162307467 162307467 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr4:162307467C>T uc003iqh.2 - 16 2412 c.1976G>A c.(1975-1977)GGC>GAC p.G659D FSTL5_uc003iqi.2_Missense_Mutation_p.G658D|FSTL5_uc010iqv.2_Missense_Mutation_p.G649D|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 659 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GAAGTAGTAGCCTCCCAAGTG 0.438000 C5orf42 65250 broad.mit.edu 37 5 37201824 37201824 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr5:37201824G>A uc011cpa.1 - 19 3607 c.3376C>T c.(3376-3378)CTT>TTT p.L1126F C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.L201F|C5orf42_uc011cpb.1_Missense_Mutation_p.L7F NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1126 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GTCTCCGAAAGAATATCTGCA 0.418000 APC 324 broad.mit.edu 37 5 112174605 112174605 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr5:112174605G>A uc010jby.2 + 16 3694 c.3314G>A c.(3313-3315)CGG>CAG p.R1105Q APC_uc011cvt.1_Missense_Mutation_p.R1087Q|APC_uc003kpz.3_Missense_Mutation_p.R1105Q|APC_uc003kpy.3_Missense_Mutation_p.R1105Q|APC_uc010jbz.2_Missense_Mutation_p.R822Q|APC_uc010jca.2_Missense_Mutation_p.R405Q NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1105 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TACAGGTCACGGGGAGCCAAT 0.398000 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) DMXL1 1657 broad.mit.edu 37 5 118533559 118533559 + Nonsense_Mutation SNP T T A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr5:118533559T>A uc003ksd.2 + 32 7834 c.7653T>A c.(7651-7653)TAT>TAA p.Y2551* DMXL1_uc010jcl.1_Nonsense_Mutation_p.Y2551* NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2551 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CTCAAAATTATATCGCAAGTC 0.438000 TIFAB 497189 broad.mit.edu 37 5 134785162 134785162 + Silent SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr5:134785162A>G uc003law.3 - 2 669 c.468T>C c.(466-468)CCT>CCC p.P156P C5orf20_uc003lav.2_5'Flank NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN TIFA-related protein TIFAB 156 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AACCAGGGGGAGGCTGCCCCT 0.582000 PCDHA13 56136 broad.mit.edu 37 5 140261955 140261955 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr5:140261955C>T uc003lif.2 + 1 102 c.102C>T c.(100-102)TCC>TCT p.S34S 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_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S34S|PCDHA13_uc003lid.2_Silent_p.S34S NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 34 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACTACTCCGTCCCCGAGG 0.662000 EYS 346007 broad.mit.edu 37 6 66200566 66200566 + Silent SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr6:66200566T>C uc011dxu.1 - 5 1321 c.783A>G c.(781-783)CAA>CAG p.Q261Q EYS_uc003peq.2_Silent_p.Q261Q|EYS_uc003per.1_Silent_p.Q261Q|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 261 EGF-like 3. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 AGACATGTGGTTGACACTGGC 0.308000 EPHA7 2045 broad.mit.edu 37 6 93956675 93956675 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr6:93956675C>T uc003poe.2 - 15 2802 c.2561G>A c.(2560-2562)CGT>CAT p.R854H EPHA7_uc003pof.2_Missense_Mutation_p.R849H|EPHA7_uc011eac.1_Missense_Mutation_p.R850H NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 854 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGCTGGTAAACGATAACCTTC 0.388000 RSPO3 84870 broad.mit.edu 37 6 127471624 127471624 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr6:127471624A>C uc003qar.2 + 3 633 c.343A>C c.(343-345)AAA>CAA p.K115Q RSPO3_uc003qas.1_Missense_Mutation_p.K115Q NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 115 FU 2. extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) CACAAAATGTAAAAGTGGATT 0.368000 SYNJ2 8871 broad.mit.edu 37 6 158516672 158516672 + Missense_Mutation SNP T T G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr6:158516672T>G uc003qqx.1 + 27 3842 c.3767T>G c.(3766-3768)TTT>TGT p.F1256C SYNJ2_uc003qqy.1_Missense_Mutation_p.F969C|SYNJ2_uc003qqz.1_Missense_Mutation_p.F873C|SYNJ2_uc003qra.1_Missense_Mutation_p.F599C|SYNJ2_uc010kjp.1_Missense_Mutation_p.F139C NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 1256 Catalytic (By similarity).|Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GAAGAACAGTTTGAGCAACAG 0.537000 WDR27 253769 broad.mit.edu 37 6 170068234 170068234 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr6:170068234G>A uc003qwx.2 - 5 1024 c.504C>T c.(502-504)CGC>CGT p.R168R WDR27_uc010kkw.1_Silent_p.R168R|WDR27_uc003qwy.2_Intron|WDR27_uc011egw.1_Intron A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GGACTTTGTGGCGGTTATTAA 0.502000 DLGAP2 9228 broad.mit.edu 37 8 1497743 1497743 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr8:1497743C>T uc003wpl.2 + 2 981 c.884C>T c.(883-885)ACG>ATG p.T295M DLGAP2_uc003wpm.2_Missense_Mutation_p.T295M NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 374 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TCTACGCTGACGGTCAGCCAG 0.652000 ANK1 286 broad.mit.edu 37 8 41577290 41577290 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr8:41577290G>A uc003xok.2 - 10 1080 c.996C>T c.(994-996)GAC>GAT p.D332D NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.D332D|ANK1_uc003xoj.2_Silent_p.D332D|ANK1_uc003xol.2_Silent_p.D332D|ANK1_uc003xom.2_Silent_p.D365D NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 332 ANK 9.|89 kDa domain. D -> H (in a breast cancer sample; somatic mutation). axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.D332H(1) ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGGTGATGTCGTCTATCTCTG 0.587000 TRPS1 7227 broad.mit.edu 37 8 116632246 116632246 + Missense_Mutation SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr8:116632246T>C uc003ynz.2 - 2 499 c.40A>G c.(40-42)AGT>GGT p.S14G TRPS1_uc011lhy.1_Missense_Mutation_p.S18G|TRPS1_uc003yny.2_Missense_Mutation_p.S27G|TRPS1_uc010mcy.2_Missense_Mutation_p.S14G NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 14 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCGCCTTCACTTGCAACGTTT 0.433000 Langer-Giedion_syndrome GPR21 2844 broad.mit.edu 37 9 125797424 125797424 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr9:125797424G>A uc011lzk.1 + 1 579 c.579G>A c.(577-579)CTG>CTA p.L193L RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA NM_005294 NP_005285 Q99679 GPR21_HUMAN G protein-coupled receptor 21 193 Helical; Name=5; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 ACTTCACCCTGTTCATCGTGA 0.498000 FAM78A 286336 broad.mit.edu 37 9 134136226 134136226 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr9:134136226G>A uc004cak.2 - 2 1175 c.835C>T c.(835-837)CCG>TCG p.P279S FAM78A_uc004caj.2_Missense_Mutation_p.P276S NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN hypothetical protein LOC286336 279 ovary(1) 1 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) TGCTTGGGCGGGATCACCACC 0.577000 SURF6 6838 broad.mit.edu 37 9 136199499 136199499 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr9:136199499G>A uc004cdb.3 - 4 569 c.491C>T c.(490-492)GCG>GTG p.A164V NM_006753 NP_006744 O75683 SURF6_HUMAN surfeit 6 164 granular component DNA binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) CTTCTCTTTCGCCCGCAGCTC 0.687000 SLC34A3 142680 broad.mit.edu 37 9 140130470 140130470 + Missense_Mutation SNP C C T rs121918238 TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr9:140130470C>T uc004cmf.1 + 13 1588 c.1402C>T c.(1402-1404)CGG>TGG p.R468W SLC34A3_uc011met.1_Missense_Mutation_p.R468W NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 468 Cytoplasmic (Potential). R -> W (in HHRH). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCCTGCACTGCGGCTGCCCAT 0.692000 OREG0019630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GPR64 10149 broad.mit.edu 37 X 19045346 19045346 + Missense_Mutation SNP C C A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chrX:19045346C>A uc004cyx.2 - 11 625 c.461G>T c.(460-462)AGT>ATT p.S154I GPR64_uc004cyy.2_Missense_Mutation_p.S151I|GPR64_uc004cyz.2_Missense_Mutation_p.S140I|GPR64_uc004czb.2_Missense_Mutation_p.S154I|GPR64_uc004czc.2_Missense_Mutation_p.S138I|GPR64_uc004czd.2_Missense_Mutation_p.S130I|GPR64_uc004cze.2_Missense_Mutation_p.S124I|GPR64_uc004czf.2_Missense_Mutation_p.S116I|GPR64_uc004cza.2_Missense_Mutation_p.S132I|GPR64_uc004cyw.2_Missense_Mutation_p.S138I|GPR64_uc010nfj.2_Missense_Mutation_p.S124I NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 154 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) CTTTAATTCACTTAGAGACAG 0.333000 USP9X 8239 broad.mit.edu 37 X 41043383 41043383 + Splice_Site SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chrX:41043383T>C uc004dfb.2 + 22 3912 c.3279_splice c.e22+2 p.E1093_splice USP9X_uc004dfc.2_Splice_Site_p.E1093_splice NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 CTAACAGAGGTTAGTTTTTGG 0.294000 FGD1 2245 broad.mit.edu 37 X 54472781 54472781 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chrX:54472781G>A uc004dtg.2 - 18 3381 c.2647C>T c.(2647-2649)CGG>TGG p.R883W NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 883 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 CTGTCAGGCCGCTCCCCTGCC 0.632000 KIAA2022 340533 broad.mit.edu 37 X 73960013 73960013 + Missense_Mutation SNP T T G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chrX:73960013T>G uc004eby.2 - 3 4996 c.4379A>C c.(4378-4380)GAG>GCG p.E1460A NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1460 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CTTACATTTCTCATCTCTCAG 0.433000 CYSLTR1 10800 broad.mit.edu 37 X 77529240 77529240 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chrX:77529240C>T uc004edb.2 - 3 404 c.4G>A c.(4-6)GAT>AAT p.D2N CYSLTR1_uc010nma.2_Missense_Mutation_p.D2N|CYSLTR1_uc010nmb.2_Missense_Mutation_p.D2N NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 2 Extracellular (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CCTGTTTCATCCATGTTTCTC 0.338000 FAM46D 169966 broad.mit.edu 37 X 79698243 79698243 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chrX:79698243A>C uc004edl.1 + 5 539 c.205A>C c.(205-207)AGT>CGT p.S69R FAM46D_uc004edm.1_Missense_Mutation_p.S69R NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 69 lung(2) 2 TTCCGTAGCAAGTTACATACT 0.378000 SLITRK4 139065 broad.mit.edu 37 X 142717006 142717006 + Missense_Mutation SNP A A T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chrX:142717006A>T uc004fbx.2 - 2 2295 c.1919T>A c.(1918-1920)GTT>GAT p.V640D SLITRK4_uc004fby.2_Missense_Mutation_p.V640D NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 640 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAGGACAAAAACAAGAAGGCA 0.483000 GABRA3 2556 broad.mit.edu 37 X 151336800 151336800 + Missense_Mutation SNP C C A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chrX:151336800C>A uc010ntk.1 - 10 1619 c.1379G>T c.(1378-1380)CGC>CTC p.R460L NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 460 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAAGATGATGCGGGAAATTTT 0.498000 SALL2 6297 broad.mit.edu 37 14 21993502 21993506 + Frame_Shift_Del DEL CTCCT CTCCT - TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 g.chr14:21993501_21993505ACTCCT>A uc001wbe.3 - 1 639_643 c.357_361AGGAGT>T c.(355-363)gaggagtctfs p.E119fs SALL2_uc010tly.2_Frame_Shift_Del_p.E117fs|SALL2_uc010tlz.1_Frame_Shift_Del_p.E117fs|SALL2_uc001wbf.3_Frame_Shift_Del_p.E117fs|SALL2_uc010tma.1_Frame_Shift_Del_p.E119fs|SALL2_uc001wbg.1_Frame_Shift_Del_p.E119fs NM_005407 NP_005398 Q9Y467 SALL2_HUMAN Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA. 119 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TGCCCTGGAGACTCCTCTCCTCTCC 0.624