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 PDPN 10630 broad.mit.edu 37 1 13940872 13940872 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr1:13940872G>A uc001avd.2 + 5 725 c.676G>A c.(676-678)GTT>ATT p.V226I PDPN_uc001avc.2_Missense_Mutation_p.V226I|PDPN_uc009vob.2_Missense_Mutation_p.V108I|PDPN_uc009voc.2_Missense_Mutation_p.V108I|PDPN_uc001ave.2_Missense_Mutation_p.V108I|PDPN_uc001avf.2_Missense_Mutation_p.V108I NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 150 Helical; (Potential). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane ovary(2) 2 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) TGCAATCATCGTTGTGGTTAT 0.423000 LEPRE1 64175 broad.mit.edu 37 1 43228097 43228097 + Missense_Mutation SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr1:43228097C>T uc001chv.2 - 2 628 c.515G>A c.(514-516)GGC>GAC p.G172D LEPRE1_uc001chw.2_Missense_Mutation_p.G172D|LEPRE1_uc001chx.3_Missense_Mutation_p.G172D|LEPRE1_uc001chy.3_Missense_Mutation_p.G172D NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 172 TPR 2. negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTCAGGATTGCCCACGAAGAA 0.468000 BEST4 266675 broad.mit.edu 37 1 45250412 45250412 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr1:45250412G>A uc001cmm.2 - 8 1086 c.1037C>T c.(1036-1038)CCC>CTC p.P346L NM_153274 NP_695006 Q8NFU0 BEST4_HUMAN bestrophin 4 346 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CTTCTCAGCGGGGGGAAGGTT 0.637000 USH2A 7399 broad.mit.edu 37 1 216348749 216348749 + Missense_Mutation SNP T T A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr1:216348749T>A uc001hku.1 - 21 4859 c.4472A>T c.(4471-4473)GAA>GTA p.E1491V USH2A_uc001hkv.2_Missense_Mutation_p.E1491V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1491 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTCAGTTCTTCAGGTGGAAA 0.438000 HNSCC(13;0.011) FAS 355 broad.mit.edu 37 10 90774152 90774152 + Missense_Mutation SNP T T A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr10:90774152T>A uc001kfr.2 + 9 1299 c.953T>A c.(952-954)ATT>AAT p.I318N FAS_uc010qna.1_RNA|FAS_uc001kfs.2_3'UTR|FAS_uc001kft.2_Missense_Mutation_p.I297N|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_3'UTR|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA NM_000043 NP_000034 P25445 TNR6_HUMAN tumor necrosis factor receptor superfamily, 318 Cytoplasmic (Potential). activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding upper_aerodigestive_tract(1)|breast(1) 2 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) CTCAAGGACATTACTAGTGAC 0.338000 Autoimmune_Lymphoproliferative_syndrome_type_I LRRK2 120892 broad.mit.edu 37 12 40740652 40740652 + Silent SNP T T G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr12:40740652T>G uc001rmg.3 + 42 6328 c.6207T>G c.(6205-6207)ACT>ACG p.T2069T LRRK2_uc009zjw.2_Silent_p.T907T|LRRK2_uc001rmi.2_Silent_p.T902T NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2069 Protein kinase. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTTGACAACTGGAGGTAGAA 0.363000 NEDD1 121441 broad.mit.edu 37 12 97345236 97345236 + Missense_Mutation SNP A A T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr12:97345236A>T uc001teu.3 + 15 2177 c.1838A>T c.(1837-1839)AAT>ATT p.N613I NEDD1_uc001tev.3_Missense_Mutation_p.N613I|NEDD1_uc010svc.1_Missense_Mutation_p.N524I|NEDD1_uc001tew.2_Missense_Mutation_p.N620I|NEDD1_uc001tex.2_Missense_Mutation_p.N524I NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 613 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 GACATTGTGAATTTGCAAGTG 0.289000 SLC5A8 160728 broad.mit.edu 37 12 101603454 101603454 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr12:101603454G>A uc001thz.3 - 1 563 c.173C>T c.(172-174)GCG>GTG p.A58V NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 58 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 GAGGGACAGCGCCACGGGCAC 0.632000 CCDC60 160777 broad.mit.edu 37 12 119954427 119954427 + Splice_Site SNP G G T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr12:119954427G>T uc001txe.2 + 8 1349 c.884_splice c.e8-1 p.N295_splice uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) ATTCTCATCAGATCTGCAGAA 0.537000 TMEM132B 114795 broad.mit.edu 37 12 126137113 126137113 + Nonsense_Mutation SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr12:126137113C>T uc001uhe.1 + 8 2034 c.2026C>T c.(2026-2028)CGA>TGA p.R676* TMEM132B_uc001uhf.1_Nonsense_Mutation_p.R188* NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 676 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCAGCCACACCGAGCAGACAA 0.612000 ANKRD10 55608 broad.mit.edu 37 13 111532325 111532325 + Missense_Mutation SNP C C G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr13:111532325C>G uc001vrn.2 - 6 1057 c.922G>C c.(922-924)GGA>CGA p.G308R ANKRD10_uc001vrm.2_Missense_Mutation_p.G45R|ANKRD10_uc001vrl.2_RNA NM_017664 NP_060134 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 308 central_nervous_system(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) CTGCTAATTCCGTTAGTTCCT 0.532000 OR4K17 390436 broad.mit.edu 37 14 20586246 20586246 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr14:20586246G>A uc001vwo.1 + 1 681 c.681G>A c.(679-681)CAG>CAA p.Q227Q NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ATTTTGTACAGGTAGTCATTG 0.413000 BRMS1L 84312 broad.mit.edu 37 14 36302313 36302313 + Splice_Site SNP T T C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr14:36302313T>C uc001wtl.2 + 3 487 c.361_splice c.e3+2 p.G121_splice BRMS1L_uc010tpx.1_Splice_Site_p.G73_splice NM_032352 NP_115728 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus skin(1) 1 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) AGGTAGCAGGTAGGAAAGTGA 0.358000 OCA2 4948 broad.mit.edu 37 15 28096604 28096604 + Missense_Mutation SNP G G C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr15:28096604G>C uc001zbh.3 - 22 2372 c.2262C>G c.(2260-2262)AAC>AAG p.N754K OCA2_uc010ayv.2_Missense_Mutation_p.N730K NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 754 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CGTGGCTCAGGTTCAGGAGCA 0.582000 Oculocutaneous_Albinism DUOX2 50506 broad.mit.edu 37 15 45388106 45388106 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr15:45388106G>A uc010bea.2 - 30 4203 c.4000C>T c.(4000-4002)CGG>TGG p.R1334W DUOX2_uc001zun.2_Missense_Mutation_p.R1334W NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1334 Cytoplasmic (Potential).|FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCCACTGCCCGGATGTGCAGG 0.642000 ADAMTSL3 57188 broad.mit.edu 37 15 84442350 84442350 + Silent SNP C C A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr15:84442350C>A uc002bjz.3 + 4 489 c.265C>A c.(265-267)CGG>AGG p.R89R ADAMTSL3_uc002bjy.1_Silent_p.R89R|ADAMTSL3_uc010bmt.1_Silent_p.R89R|ADAMTSL3_uc010bmu.1_Silent_p.R89R NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 89 TSP type-1 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TGACTGCTCCCGGACCTGTGG 0.502000 CDH1 999 broad.mit.edu 37 16 68842728 68842728 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr16:68842728A>G uc002ewg.1 + 5 788 c.664A>G c.(664-666)AGA>GGA p.R222G CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.R222G NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 222 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GCCTCTGGATAGAGAACGCAT 0.478000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer CDH1 999 broad.mit.edu 37 16 68856129 68856129 + Splice_Site SNP G G T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr16:68856129G>T uc002ewg.1 + 12 2060 c.1936_splice c.e12+1 p.T646_splice CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.T585_splice NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AACGACCCAAGTGGGTACCTG 0.488000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer ADAMTS18 170692 broad.mit.edu 37 16 77393318 77393318 + Missense_Mutation SNP A A C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr16:77393318A>C uc002ffc.3 - 8 1638 c.1219T>G c.(1219-1221)TTT>GTT p.F407V ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.F103V|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 407 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 ATGGGGGCAAACCCTATTGAA 0.433000 IMP5 162540 broad.mit.edu 37 17 43923421 43923421 + Silent SNP G G T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr17:43923421G>T uc010wka.1 + 1 1149 c.1149G>T c.(1147-1149)CTG>CTT p.L383L LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 383 Helical; (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) TGGCCCTGCTGGCCTTTGATG 0.582000 TRIM25 7706 broad.mit.edu 37 17 54981760 54981760 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr17:54981760C>T uc002iut.2 - 3 843 c.783G>A c.(781-783)AGG>AGA p.R261R TRIM25_uc010dcj.2_Silent_p.R53R NM_005082 NP_005073 Q14258 TRI25_HUMAN tripartite motif-containing 25 261 Interaction with influenza A virus NS1.|Potential. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding lung(1)|breast(1)|skin(1) 3 Breast(9;6.15e-08) CCTTTATCTTCCTTGTCGAGG 0.478000 KCNH6 81033 broad.mit.edu 37 17 61611421 61611421 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr17:61611421G>A uc002jay.2 + 5 930 c.850G>A c.(850-852)GAT>AAT p.D284N KCNH6_uc002jax.1_Missense_Mutation_p.D284N|KCNH6_uc010wpl.1_Missense_Mutation_p.D161N|KCNH6_uc010wpm.1_Missense_Mutation_p.D284N|KCNH6_uc002jaz.1_Missense_Mutation_p.D284N NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 284 Extracellular (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CCTGCTCAGCGATCAGGACGA 0.592000 SMAD4 4089 broad.mit.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T rs80338963 TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr18:48591918C>T uc010xdp.1 + 9 1619 c.1081C>T c.(1081-1083)CGC>TGC p.R361C SMAD4_uc002lfb.3_Missense_Mutation_p.R206C NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 361 MH2. R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGGAGGAGATCGCTTTTGTTT 0.413000 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia MUC16 94025 broad.mit.edu 37 19 9089753 9089753 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr19:9089753A>G uc002mkp.2 - 1 2266 c.2062T>C c.(2062-2064)TCA>CCA p.S688P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 688 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 CTGAAAGCTGAGGACTGTAGA 0.502000 NAPSA 9476 broad.mit.edu 37 19 50864332 50864332 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr19:50864332G>A uc002prx.2 - 5 587 c.534C>T c.(532-534)TTC>TTT p.F178F NR1H2_uc002prv.3_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN napsin A preproprotein 178 proteolysis extracellular region aspartic-type endopeptidase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) GGGCAAAAGCGAAGACCAGGC 0.527000 LILRA4 23547 broad.mit.edu 37 19 54848675 54848675 + Silent SNP G G A rs142322002 byFrequency TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr19:54848675G>A uc002qfj.2 - 5 1005 c.948C>T c.(946-948)ATC>ATT p.I316I LILRA4_uc002qfi.2_Silent_p.I250I NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 316 Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCTCACCTGCGATCAGGATGT 0.692000 USP29 57663 broad.mit.edu 37 19 57641825 57641825 + Silent SNP C C T rs35663514 TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr19:57641825C>T uc002qny.2 + 4 2138 c.1782C>T c.(1780-1782)CCC>CCT p.P594P NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 594 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGTTCTACCCGTTGAACCAG 0.488000 B3GNT7 93010 broad.mit.edu 37 2 232263406 232263406 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr2:232263406G>A uc002vrs.2 + 2 1156 c.976G>A c.(976-978)GAC>AAC p.D326N NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 326 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) CTACCCGATCGACGACGTCTT 0.677000 PRIC285 85441 broad.mit.edu 37 20 62196078 62196078 + Missense_Mutation SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr20:62196078C>T uc002yfm.2 - 9 4989 c.4097G>A c.(4096-4098)TGC>TAC p.C1366Y PRIC285_uc002yfl.1_Missense_Mutation_p.C797Y NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1366 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) AGCCACCTCGCACCTGGGACC 0.672000 CDC45 8318 broad.mit.edu 37 22 19492984 19492984 + Silent SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr22:19492984A>G uc002zpr.2 + 10 880 c.804A>G c.(802-804)ACA>ACG p.T268T CDC45_uc011agz.1_Silent_p.T263T|CDC45_uc011aha.1_Silent_p.T300T|CDC45_uc002zps.2_Silent_p.T268T|CDC45_uc002zpt.2_Silent_p.T222T NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 268 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 TGGACTGCACACGGATCTCCT 0.572000 COL7A1 1294 broad.mit.edu 37 3 48621022 48621022 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr3:48621022G>A uc003ctz.2 - 40 4369 c.4368C>T c.(4366-4368)GGC>GGT p.G1456G NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1456 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTCCTGGGAGGCCTGGAGCTC 0.627000 SEMA5B 54437 broad.mit.edu 37 3 122680090 122680090 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr3:122680090C>T uc003efz.1 - 2 325 c.21G>A c.(19-21)CCG>CCA p.P7P SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.P7P|SEMA5B_uc010hro.1_Intron|SEMA5B_uc010hrp.1_Intron NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 7 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CAACAGGAGACGGACTGAAGC 0.577000 ZBTB38 253461 broad.mit.edu 37 3 141161551 141161551 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr3:141161551C>T uc003etw.2 + 8 1303 c.321C>T c.(319-321)CTC>CTT p.L107L ZBTB38_uc010hun.2_Silent_p.L104L|ZBTB38_uc010huo.2_Silent_p.L107L|ZBTB38_uc003ety.2_Silent_p.L107L|ZBTB38_uc010hup.2_Silent_p.L108L NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 107 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TCACTGATCTCGCAGCTGCAG 0.423000 DCHS2 54798 broad.mit.edu 37 4 155250824 155250824 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr4:155250824G>A uc003inw.2 - 11 2404 c.2404C>T c.(2404-2406)CGG>TGG p.R802W DCHS2_uc003inx.2_Missense_Mutation_p.R1257W NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 802 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGTGCCCCCGGTGCTCACGA 0.552000 RXFP1 59350 broad.mit.edu 37 4 159560437 159560437 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr4:159560437A>G uc003ipz.2 + 14 1151 c.1069A>G c.(1069-1071)AAT>GAT p.N357D RXFP1_uc010iqj.1_Missense_Mutation_p.N186D|RXFP1_uc011cja.1_Missense_Mutation_p.N252D|RXFP1_uc010iqo.2_Missense_Mutation_p.N309D|RXFP1_uc011cjb.1_Missense_Mutation_p.N255D|RXFP1_uc010iqk.2_Missense_Mutation_p.N225D|RXFP1_uc011cjc.1_Missense_Mutation_p.N276D|RXFP1_uc011cjd.1_Missense_Mutation_p.N276D|RXFP1_uc010iql.2_Missense_Mutation_p.N201D|RXFP1_uc011cje.1_Missense_Mutation_p.N384D|RXFP1_uc010iqm.2_Missense_Mutation_p.N324D|RXFP1_uc011cjf.1_Missense_Mutation_p.N226D|RXFP1_uc010iqn.2_Missense_Mutation_p.N302D NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 357 Extracellular (Potential).|LRR 9. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TGAAATTTCAAATATCCAACA 0.284000 BDP1 55814 broad.mit.edu 37 5 70759924 70759924 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr5:70759924G>A uc003kbp.1 + 4 902 c.639G>A c.(637-639)TCG>TCA p.S213S BDP1_uc003kbn.1_Silent_p.S213S|BDP1_uc003kbo.2_Silent_p.S213S NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 213 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAAAGCCATCGACTCCAGTCC 0.264000 ACOT12 134526 broad.mit.edu 37 5 80631636 80631636 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr5:80631636G>A uc003khl.3 - 12 1268 c.1213C>T c.(1213-1215)CGT>TGT p.R405C RNU5E_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 405 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GACAAGAGACGATAAGCCAAA 0.348000 HSD17B4 3295 broad.mit.edu 37 5 118861675 118861675 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr5:118861675A>G uc003ksj.2 + 19 1760 c.1637A>G c.(1636-1638)CAG>CGG p.Q546R HSD17B4_uc011cwg.1_Missense_Mutation_p.Q522R|HSD17B4_uc011cwh.1_Missense_Mutation_p.Q528R|HSD17B4_uc011cwi.1_Missense_Mutation_p.Q571R|HSD17B4_uc003ksk.3_Missense_Mutation_p.Q399R|HSD17B4_uc011cwj.1_Missense_Mutation_p.Q399R|HSD17B4_uc010jcn.1_Missense_Mutation_p.Q284R|HSD17B4_uc010jco.1_Missense_Mutation_p.S15G NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 546 MaoC-like.|Enoyl-CoA hydratase 2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) CGTGTGTTACAGCAGTTTGCA 0.348000 PCDHGA7 56108 broad.mit.edu 37 5 140764604 140764604 + Missense_Mutation SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr5:140764604C>T uc003lka.1 + 1 2138 c.2138C>T c.(2137-2139)GCG>GTG p.A713V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A713V|PCDHGB4_uc011dav.1_5'Flank NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 713 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACTGCTGGCGCTCAGGCTG 0.632000 HSPA1L 3305 broad.mit.edu 37 6 31779057 31779057 + Silent SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr6:31779057A>G uc003nxh.2 - 2 876 c.693T>C c.(691-693)GGT>GGC p.G231G HSPA1L_uc010jte.2_Silent_p.G231G NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 231 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 AGTCCTCCCCACCCAGGTGAG 0.507000 KIFC1 3833 broad.mit.edu 37 6 33372771 33372771 + Missense_Mutation SNP T T G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr6:33372771T>G uc003oef.3 + 7 1349 c.899T>G c.(898-900)CTG>CGG p.L300R KIFC1_uc011drf.1_Missense_Mutation_p.L292R NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 300 Potential. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 CGCCGGCGACTGCACAACCAG 0.642000 RIMS1 22999 broad.mit.edu 37 6 73102406 73102406 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr6:73102406A>G uc003pga.2 + 31 4589 c.4512A>G c.(4510-4512)ATA>ATG p.I1504M RIMS1_uc011dyb.1_Missense_Mutation_p.I901M|RIMS1_uc003pgc.2_Missense_Mutation_p.I953M|RIMS1_uc010kaq.2_Missense_Mutation_p.I824M|RIMS1_uc011dyc.1_Missense_Mutation_p.I629M|RIMS1_uc010kar.2_Missense_Mutation_p.I572M|RIMS1_uc011dyd.1_Missense_Mutation_p.I638M|RIMS1_uc003pgf.2_Missense_Mutation_p.I504M|RIMS1_uc003pgg.2_Missense_Mutation_p.I400M|RIMS1_uc003pgi.2_Missense_Mutation_p.I320M|RIMS1_uc003pgh.2_Missense_Mutation_p.I371M|RIMS1_uc003pgd.2_Missense_Mutation_p.I570M|RIMS1_uc003pge.2_Missense_Mutation_p.I544M|RIMS1_uc011dye.1_Missense_Mutation_p.I310M|RIMS1_uc011dyf.1_Missense_Mutation_p.I128M|RIMS1_uc011dyg.1_Missense_Mutation_p.I31M NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1504 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) ATAGTTTAATATTTCCTGGAG 0.418000 SYNE1 23345 broad.mit.edu 37 6 152631075 152631075 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr6:152631075G>A uc010kiw.2 - 90 17699 c.17097C>T c.(17095-17097)CCC>CCT p.P5699P SYNE1_uc010kiv.2_Silent_p.P223P|SYNE1_uc003qos.3_Silent_p.P223P|SYNE1_uc003qot.3_Silent_p.P5628P|SYNE1_uc003qou.3_Silent_p.P5699P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5699 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCACATCCTCGGGGATCCGGA 0.557000 HNSCC(10;0.0054) LPA 4018 broad.mit.edu 37 6 161015130 161015130 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr6:161015130G>A uc003qtl.2 - 23 3609 c.3489C>T c.(3487-3489)CCC>CCT p.P1163P NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3671 Kringle 33. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCTGGACCCCGGGGCTTTGCT 0.468000 C8orf58 541565 broad.mit.edu 37 8 22458519 22458519 + Silent SNP C C T rs138371466 TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr8:22458519C>T uc003xce.2 + 2 277 c.165C>T c.(163-165)GTC>GTT p.V55V C8orf58_uc011kzl.1_Silent_p.V55V|C8orf58_uc003xcf.2_Silent_p.V55V NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN hypothetical protein LOC541565 55 skin(1) 1 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TCAGAGGTGTCGGCAGGGAGG 0.637000 ENTPD4 9583 broad.mit.edu 37 8 23305223 23305223 + Nonsense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr8:23305223G>A uc003xdl.2 - 4 546 c.382C>T c.(382-384)CGA>TGA p.R128* ENTPD4_uc011kzu.1_Nonsense_Mutation_p.R128*|ENTPD4_uc003xdm.2_Nonsense_Mutation_p.R128*|ENTPD4_uc011kzv.1_Nonsense_Mutation_p.R128*|ENTPD4_uc011kzw.1_Nonsense_Mutation_p.R94* NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 128 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) ACTGGCTTTCGGTTTTTATCC 0.453000 KIF13B 23303 broad.mit.edu 37 8 28999695 28999695 + Silent SNP T T C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr8:28999695T>C uc003xhh.3 - 19 2372 c.2313A>G c.(2311-2313)AAA>AAG p.K771K NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 771 Potential. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CTTCACACTCTTTCCACTCCT 0.403000 AP3M2 10947 broad.mit.edu 37 8 42012282 42012282 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr8:42012282G>A uc003xop.2 + 3 368 c.77G>A c.(76-78)CGT>CAT p.R26H AP3M2_uc003xoo.2_Missense_Mutation_p.R26H|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Missense_Mutation_p.R26H NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 26 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GTGGTCAGCCGTTCTGTTTGT 0.453000 TOP1MT 116447 broad.mit.edu 37 8 144400005 144400005 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr8:144400005C>T uc003yxz.2 - 10 1237 c.1218G>A c.(1216-1218)ACG>ACA p.T406T TOP1MT_uc011lkd.1_Silent_p.T308T|TOP1MT_uc011lke.1_Silent_p.T308T|TOP1MT_uc010mfb.2_Silent_p.T308T|TOP1MT_uc011lkf.1_Silent_p.T201T NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 406 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TCAGGCTGGTCGTCTGGGGAG 0.602000 AK3 50808 broad.mit.edu 37 9 4712977 4712977 + Nonstop_Mutation SNP C C G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr9:4712977C>G uc003ziq.1 - 5 823 c.683G>C c.(682-684)TGA>TCA p.*228S AK3_uc003zip.1_RNA|AK3_uc011lma.1_Nonstop_Mutation_p.*188S|AK3_uc003zir.1_Nonstop_Mutation_p.*158S NM_016282 NP_057366 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 228 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity ovary(2) 2 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) CATTTCTCCTCATGGAGTAAC 0.383000 CER1 9350 broad.mit.edu 37 9 14720137 14720137 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr9:14720137A>G uc003zlj.2 - 2 800 c.755T>C c.(754-756)ATC>ACC p.I252T NM_005454 NP_005445 O95813 CER1_HUMAN cerberus 1 precursor 252 BMP signaling pathway extracellular space cytokine activity 0 GBM - Glioblastoma multiforme(50;3.16e-06) AGCATGTAGGATGTGTCCATC 0.488000 SPTAN1 6709 broad.mit.edu 37 9 131339474 131339474 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr9:131339474C>T uc004bvl.3 + 7 965 c.852C>T c.(850-852)GGC>GGT p.G284G SPTAN1_uc011mbg.1_Silent_p.G284G|SPTAN1_uc011mbh.1_Silent_p.G296G|SPTAN1_uc004bvm.3_Silent_p.G284G|SPTAN1_uc004bvn.3_Silent_p.G284G NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 284 Spectrin 4. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ATGATTTTGGCCGAGACCTGG 0.483000 L1CAM 3897 broad.mit.edu 37 X 153129907 153129907 + Silent SNP C C T rs142563956 byFrequency TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chrX:153129907C>T uc004fjb.2 - 24 3300 c.3192G>A c.(3190-3192)TCG>TCA p.S1064S L1CAM_uc004fjc.2_Silent_p.S1064S|L1CAM_uc010nuo.2_Silent_p.S1059S NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 1064 Fibronectin type-III 5.|Extracellular (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATACTGTGGCGAAAGGGAAG 0.607000 ASH1L 55870 broad.mit.edu 37 1 155451843 155451844 + Frame_Shift_Ins INS - - T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr1:155451842_155451843C>CT uc009wqq.3 - 2 1298_1299 c.818_819G>AG c.(817-819)aagfs p.K273fs ASH1L_uc001fkt.3_Frame_Shift_Ins_p.K273fs|ASH1L_uc009wqr.1_Frame_Shift_Ins_p.K273fs NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 273 DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGATGGTTGGCTTTTTTATTAA 0.416 INPPL1 3636 broad.mit.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr11:71948208_71948208GC>G uc001osf.3 + 25 3067 c.2920_2920GC>G c.(2920-2922)gccfs p.A974fs INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 974 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding p.P977fs*7(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AGGGGTGGCGGCCCCCCCACC 0.632 MON2 23041 broad.mit.edu 37 12 62954432 62954433 + Frame_Shift_Del DEL GT GT - TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr12:62954431_62954432AGT>A uc001sre.3 + 25 3961_3962 c.3570_3571AGT>A c.(3568-3573)gtagttfs p.V1190fs MON2_uc010ssn.2_Frame_Shift_Del_p.V1190fs|MON2_uc009zqj.3_Frame_Shift_Del_p.V1190fs|MON2_uc010ssl.2_Frame_Shift_Del_p.V1118fs|MON2_uc010ssm.2_Frame_Shift_Del_p.V1167fs|MON2_uc001srf.3_Frame_Shift_Del_p.V953fs|MON2_uc001srg.3_Frame_Shift_Del_p.V65fs NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA. 1191 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CACCACCTGTAGTTAATGTACC 0.426 BRWD1 54014 broad.mit.edu 37 21 40587280 40587280 + Frame_Shift_Del DEL G G - TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a g.chr21:40587279_40587279AG>A uc002yxk.2 - 31 3964 c.3669_3669CT>T c.(3667-3669)tctfs p.S1223fs BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Frame_Shift_Del_p.S1223fs|BRWD1_uc010god.1_Frame_Shift_Del_p.S189fs NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 1223 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AAACTAACGCAGACAGCCTCC 0.353