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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut TPRG1L 127262 broad.mit.edu 37 1 3544105 3544105 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:3544105G>T uc001akm.2 + 4 593 c.512G>T c.(511-513)AGT>ATT p.S171I TPRG1L_uc009vlj.2_Missense_Mutation_p.S112I NM_182752 NP_877429 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 171 cell junction|synaptic vesicle 0 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) GACAAGCAAAGTCGTCCTTCC 0.502 NA 11 221 1.34e-11 1.67e-11 1 0 DDI2 84301 broad.mit.edu 37 1 15959965 15959965 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:15959965G>A uc001awx.1 + 4 633 c.537G>A c.(535-537)CAG>CAA p.Q179Q DDI2_uc001aww.2_Silent_p.Q179Q|DDI2_uc009voj.1_5'UTR NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 179 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TGGAGCAGCAGCAGGACCGAG 0.398 NA 5 322 0 0 0 0 GRHL3 57822 broad.mit.edu 37 1 24669194 24669194 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:24669194G>A uc001biy.2 + 10 1278 c.1232G>A c.(1231-1233)AGG>AAG p.R411K GRHL3_uc001bix.2_Missense_Mutation_p.R406K|GRHL3_uc001biz.2_Missense_Mutation_p.R313K NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 406 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GGAGCTGAGAGGAAGATGCGC 0.597 NA 5 126 0 0 0 0 SYNC 81493 broad.mit.edu 37 1 33149862 33149862 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:33149862T>C uc001bvt.2 - 3 1455 c.1355A>G c.(1354-1356)TAT>TGT p.Y452C SYNC_uc010ohl.1_Missense_Mutation_p.Y452C|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR NM_030786 NP_110413 Q9H7C4 SYNCI_HUMAN syncoilin, intermediate filament 1 isoform 1 452 Coil 2. intermediate filament|perinuclear region of cytoplasm structural molecule activity ovary(1) 1 AACTGACTTATAAGTAGAGAG 0.433 NA 139 187 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39844998 39844998 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:39844998A>T uc010oiu.1 + 18 8851 c.8720A>T c.(8719-8721)AAG>ATG p.K2907M MACF1_uc010ois.1_Missense_Mutation_p.K2405M|MACF1_uc001cda.1_Missense_Mutation_p.K2292M|MACF1_uc001cdc.1_Missense_Mutation_p.K1471M NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4472 Spectrin 3. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGGTTCACAAGGAGGCAAAC 0.468 NA 7 286 0 0 0 0 HPDL 84842 broad.mit.edu 37 1 45792887 45792887 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:45792887C>T uc001cne.2 + 1 343 c.67C>T c.(67-69)CGG>TGG p.R23W NM_032756 NP_116145 Q96IR7 HPDL_HUMAN glyoxalase domain containing 1 23 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 Acute lymphoblastic leukemia(166;0.155) GCCCCTAGCCCGGAACCTGCA 0.697 NA 14 19 0 0 0 0 ROR1 4919 broad.mit.edu 37 1 64643163 64643163 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:64643163G>A uc001dbj.2 + 9 1838 c.1439G>A c.(1438-1440)GGT>GAT p.G480D uc001dbm.2_5'Flank NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 480 ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 GAAGAATTGGGTGAGTGTGCC 0.423 NA 21 270 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66074565 66074565 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:66074565G>T uc001dci.2 + 12 1935 c.1733G>T c.(1732-1734)GGA>GTA p.G578V LEPR_uc001dcg.2_Missense_Mutation_p.G578V|LEPR_uc001dch.2_Missense_Mutation_p.G578V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G578V|LEPR_uc001dck.2_Missense_Mutation_p.G578V NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 578 Extracellular (Potential).|Fibronectin type-III 2. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GGTTTAAGTGGAAAAGAAGTA 0.303 NA 16 28 1.34e-09 1.65e-09 1 0 CLCA2 9635 broad.mit.edu 37 1 86904619 86904619 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:86904619A>T uc001dlr.3 + 7 1195 c.1033A>T c.(1033-1035)ATT>TTT p.I345F NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 345 VWFA.|Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GATTGTTGAAATTCATACCTT 0.418 NA 6 73 0 0 0 0 HS2ST1 9653 broad.mit.edu 37 1 87558326 87558326 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:87558326C>T uc010osk.1 + 4 947 c.562C>T c.(562-564)CGG>TGG p.R188W HS2ST1_uc001dmc.3_Missense_Mutation_p.R188W|LOC339524_uc001dme.1_Missense_Mutation_p.R149W NM_012262 NP_036394 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 isoform 188 Lumenal (Potential). Golgi membrane|integral to membrane central_nervous_system(1) 1 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) ACCAGGGTTACGGAGACGAAA 0.303 NA 5 29 0 0 0 0 VAV3 10451 broad.mit.edu 37 1 108307728 108307728 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:108307728C>T uc001dvk.1 - 9 945 c.891G>A c.(889-891)AAG>AAA p.K297K VAV3_uc010ouw.1_Silent_p.K297K|VAV3_uc001dvl.1_Silent_p.K121K|VAV3_uc010oux.1_Silent_p.K297K NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 297 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CTTCTTTTGTCTTAGAAATGT 0.338 NA 6 41 0 0 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859412 149859412 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:149859412A>T uc001ete.2 - 1 55 c.55T>A c.(55-57)TCG>ACG p.S19T HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 19 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCGCGGGACGAGCGCGACTTG 0.622 NA 5 90 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157557209 157557209 + Missense_Mutation SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:157557209A>G uc001fqw.2 - 5 840 c.704T>C c.(703-705)GTC>GCC p.V235A FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 235 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TGACAGGATGACCTCGCCATC 0.532 NA 24 289 0 0 0 0 TBX19 9095 broad.mit.edu 37 1 168274253 168274253 + Silent SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:168274253C>A uc001gfl.2 + 6 786 c.735C>A c.(733-735)GGC>GGA p.G245G TBX19_uc001gfj.3_Intron|TBX19_uc001gfm.2_Translation_Start_Site NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 245 anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) TAGTGGGAGGCTGGATCTTTT 0.493 NA 16 73 2.94e-08 3.59e-08 1 0 KCNT2 343450 broad.mit.edu 37 1 196227581 196227581 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:196227581T>A uc001gtd.1 - 26 3014 c.2954A>T c.(2953-2955)GAC>GTC p.D985V KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.D918V|KCNT2_uc001gtf.1_Missense_Mutation_p.D961V|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.D489V NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 985 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTCTTTGGAGTCTTTGGTGTC 0.433 NA 10 78 0 0 0 0 CFHR2 3080 broad.mit.edu 37 1 196927141 196927141 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:196927141T>C uc001gtq.1 + 4 628 c.551T>C c.(550-552)CTT>CCT p.L184P CFHR2_uc001gtr.1_Missense_Mutation_p.L60P NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 184 Sushi 3. extracellular region skin(2)|ovary(1) 3 TTGTATCAACTTGAGGGTAAC 0.398 NA 3 74 0 0 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213277842 213277842 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:213277842A>T uc010ptr.1 + 4 468 c.309A>T c.(307-309)GAA>GAT p.E103D RPS6KC1_uc001hkd.2_Missense_Mutation_p.E91D|RPS6KC1_uc010pts.1_Translation_Start_Site|RPS6KC1_uc010ptt.1_Translation_Start_Site|RPS6KC1_uc010ptu.1_Translation_Start_Site|RPS6KC1_uc010ptv.1_Translation_Start_Site|RPS6KC1_uc001hke.2_Translation_Start_Site NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 103 PX. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AATGTGCTGAAGACCTGCTAC 0.353 NA 4 59 0 0 0 0 MIA3 375056 broad.mit.edu 37 1 222802470 222802470 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:222802470T>A uc001hnl.2 + 4 1917 c.1908T>A c.(1906-1908)GAT>GAA p.D636E MIA3_uc009xea.1_Missense_Mutation_p.D472E NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 636 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CCTCTCCAGATGAGATTGATT 0.468 NA 35 158 0 0 0 0 NUP133 55746 broad.mit.edu 37 1 229637829 229637829 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:229637829T>C uc001htn.2 - 3 414 c.322A>G c.(322-324)AAC>GAC p.N108D NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 108 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TCATCTATGTTAATGGTCAGC 0.363 NA 8 113 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235827826 235827826 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:235827826T>C uc001hxj.2 - 51 11309 c.11134A>G c.(11134-11136)AAC>GAC p.N3712D LYST_uc001hxi.2_Missense_Mutation_p.N936D NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3712 WD 6. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCAGGCTGGTTGGAGAAAGCC 0.468 NA Chediak-Higashi_syndrome 4 58 0 0 0 0 OR2G3 81469 broad.mit.edu 37 1 247769355 247769355 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr1:247769355C>T uc010pyz.1 + 1 468 c.468C>T c.(466-468)TCC>TCT p.S156S NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCTAGTTCCCTAATCCATG 0.483 NA 4 139 0 0 0 0 CELF2 10659 broad.mit.edu 37 10 11047387 11047387 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr10:11047387G>A uc001iki.3 + 1 129 c.37G>A c.(37-39)GAA>AAA p.E13K CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.E13K NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 13 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 TATGAGAAATGAAGAGCTGCT 0.398 NA 41 147 0 0 0 0 PTER 9317 broad.mit.edu 37 10 16526619 16526619 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr10:16526619C>G uc001iog.1 + 3 443 c.236C>G c.(235-237)GCC>GGC p.A79G PTER_uc001ioh.1_Missense_Mutation_p.A79G|PTER_uc001ioi.1_Missense_Mutation_p.A79G|PTER_uc009xjp.1_Missense_Mutation_p.A79G NM_030664 NP_109589 Q96BW5 PTER_HUMAN phosphotriesterase related 79 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding ovary(2) 2 GAGACAGAAGCCATAAAGGAA 0.393 NA 4 74 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508758 37508758 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr10:37508758T>A uc001iza.1 + 34 4049 c.3950T>A c.(3949-3951)ATA>AAA p.I1317K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1373 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AATGAGGAGATATTTAATTAC 0.274 NA 4 2 0 0 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62652607 62652607 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr10:62652607T>C uc001jli.2 - 6 881 c.443A>G c.(442-444)GAC>GGC p.D148G RHOBTB1_uc001jlh.2_Missense_Mutation_p.D148G|RHOBTB1_uc001jlj.2_Missense_Mutation_p.D148G|RHOBTB1_uc001jlk.2_Missense_Mutation_p.D148G|RHOBTB1_uc009xpe.1_Intron NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 148 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) AGCTTCCAGGTCGGCATAGCG 0.498 NA 12 47 0 0 0 0 FGFR2 2263 broad.mit.edu 37 10 123310907 123310907 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr10:123310907G>T uc010qtk.1 - 5 1168 c.521C>A c.(520-522)ACT>AAT p.T174N FGFR2_uc010qtg.1_Missense_Mutation_p.T174N|FGFR2_uc010qth.1_Missense_Mutation_p.T59N|FGFR2_uc010qti.1_Missense_Mutation_p.T85N|FGFR2_uc010qtj.1_Missense_Mutation_p.T174N|FGFR2_uc010qtl.1_Missense_Mutation_p.T174N|FGFR2_uc010qtm.1_Missense_Mutation_p.T59N|FGFR2_uc001lfl.3_Missense_Mutation_p.T174N|FGFR2_uc001lfm.2_Missense_Mutation_p.T85N|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.T193N|FGFR2_uc010qto.1_Missense_Mutation_p.T78N|FGFR2_uc001lfo.1_Missense_Mutation_p.T193N|FGFR2_uc010qtp.1_Missense_Mutation_p.T193N|FGFR2_uc010qtq.1_Missense_Mutation_p.T193N NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 174 Ig-like C2-type 2.|Heparin-binding.|Extracellular (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) AAACTTGACAGTGTTGGCCGC 0.517 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 15 81 1.15e-07 1.4e-07 1 0 OR51B2 79345 broad.mit.edu 37 11 5344901 5344901 + Silent SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:5344901A>G uc001mao.1 - 1 682 c.627T>C c.(625-627)TGT>TGC p.C209C HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGATGATCAGACAGTCTAGGA 0.403 NA 5 24 0 0 0 0 OR10A2 341276 broad.mit.edu 37 11 6891056 6891056 + Missense_Mutation SNP T T G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:6891056T>G uc001meu.1 + 1 71 c.71T>G c.(70-72)GTC>GGC p.V24G NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 24 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATCTACCTGGTCACCCTGATG 0.448 NA 5 251 0 0 0 0 OR8K5 219453 broad.mit.edu 37 11 55927529 55927529 + Nonsense_Mutation SNP G G A rs147577134 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:55927529G>A uc010rja.1 - 1 265 c.265C>T c.(265-267)CGA>TGA p.R89* NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATAGTATTTCGATCCACAACA 0.393 NA 13 65 0 0 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64604277 64604277 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:64604277G>C uc001obs.3 - 11 1318 c.1318C>G c.(1318-1320)CCC>GCC p.P440A NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 440 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 TGGTCTGTGGGGGCGTGCAGG 0.701 NA 7 9 0 0 0 0 SUV420H1 51111 broad.mit.edu 37 11 67926242 67926242 + Missense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:67926242C>A uc001onm.1 - 11 1827 c.1571G>T c.(1570-1572)GGT>GTT p.G524V SUV420H1_uc009yse.1_Missense_Mutation_p.G110V|SUV420H1_uc001onn.1_Missense_Mutation_p.G352V|SUV420H1_uc009ysf.2_Missense_Mutation_p.G284V NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CGAATGAGCACCTCTCACAGG 0.552 NA 4 129 1.24e-05 1.46e-05 1 0 LRRC32 2615 broad.mit.edu 37 11 76371159 76371159 + Nonsense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:76371159A>T uc001oxq.3 - 3 1721 c.1478T>A c.(1477-1479)TTG>TAG p.L493* LRRC32_uc001oxr.3_Nonsense_Mutation_p.L493*|LRRC32_uc010rsf.1_Intron NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 493 Extracellular (Potential).|LRR 18. integral to plasma membrane 0 CAGGACCTCCAAGGAGGCCTC 0.652 NA 7 31 0 0 0 0 GRIA4 2893 broad.mit.edu 37 11 105623796 105623796 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:105623796T>A uc001pix.2 + 4 783 c.337T>A c.(337-339)TTA>ATA p.L113I GRIA4_uc001piu.1_Missense_Mutation_p.L113I|GRIA4_uc001piw.2_Missense_Mutation_p.L113I|GRIA4_uc001piv.2_Missense_Mutation_p.L113I|GRIA4_uc009yxk.1_Missense_Mutation_p.L113I NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 113 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CTGCAGCGCCTTACATATCTC 0.463 NA 18 72 0 0 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789510 117789510 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:117789510G>C uc001prs.1 - 2 158 c.65C>G c.(64-66)GCC>GGC p.A22G TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.A22G NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 22 4 X 5 AA repeats of T-P-P-G-R.|1-2.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) AGATGCCTGGGCTGGAGATGC 0.627 NA 9 52 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118377362 118377362 + Splice_Site SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:118377362G>T uc001pta.2 + 27 10768 c.10745_splice c.e27+1 p.G3582_splice MLL_uc001ptb.2_Splice_Site_p.G3585_splice NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAGGCACAGGGTGAGAGATCC 0.483 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 6 78 0.00116845 0.00129929 1 0 ROBO4 54538 broad.mit.edu 37 11 124763789 124763789 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:124763789G>A uc001qbg.2 - 9 1611 c.1471C>T c.(1471-1473)CGC>TGC p.R491C ROBO4_uc010sas.1_Missense_Mutation_p.R346C|ROBO4_uc001qbh.2_Missense_Mutation_p.R381C|ROBO4_uc001qbi.2_Missense_Mutation_p.R49C|ROBO4_uc010sat.1_Missense_Mutation_p.R49C NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 491 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CGGCGCCGGCGGTGGATACAC 0.647 NA 4 17 0 0 0 0 NCAPD3 23310 broad.mit.edu 37 11 134027943 134027943 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr11:134027943T>C uc001qhd.1 - 31 4660 c.4054A>G c.(4054-4056)ATT>GTT p.I1352V NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.I302V NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1352 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) AGGATTGCAATGGTGCTCAGG 0.552 NA 38 137 0 0 0 0 C12orf4 57102 broad.mit.edu 37 12 4599038 4599038 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:4599038G>C uc001qms.2 - 14 1682 c.1594C>G c.(1594-1596)CTT>GTT p.L532V C12orf4_uc001qmt.2_Missense_Mutation_p.L532V NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 532 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) ATGTTACTAAGTTGATAAAAC 0.303 NA 30 35 0 0 0 0 CD9 928 broad.mit.edu 37 12 6342628 6342628 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:6342628C>G uc001qnp.1 + 5 768 c.324C>G c.(322-324)ATC>ATG p.I108M CD9_uc010sev.1_Missense_Mutation_p.I108M|CD9_uc001qnq.1_Missense_Mutation_p.I108M NM_001769 NP_001760 P21926 CD9_HUMAN CD9 antigen 108 Helical; (Potential). cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane ovary(1) 1 CTGCGGCCATCTGGGGATATT 0.557 NA 29 38 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9313713 9313713 + Splice_Site SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:9313713C>T uc001qvl.2 - 23 2818 c.2789_splice c.e23-1 p.G930_splice PZP_uc009zgl.2_Splice_Site_p.G716_splice|PZP_uc010sgo.1_Splice_Site|PZP_uc009zgm.1_Intron NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 ACATTAGCACCTTTAGAAACA 0.318 NA 7 57 0 0 0 0 C12orf35 55196 broad.mit.edu 37 12 32133942 32133942 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:32133942A>T uc001rks.2 + 4 467 c.53A>T c.(52-54)AAA>ATA p.K18I NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 18 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) CTGTATCCTAAAAGCCAGCCA 0.348 NA 19 30 0 0 0 0 METAP2 10988 broad.mit.edu 37 12 95887871 95887871 + Silent SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:95887871A>G uc001tec.2 + 5 602 c.468A>G c.(466-468)AAA>AAG p.K156K METAP2_uc010suv.1_Silent_p.K133K|METAP2_uc009ztd.2_Silent_p.K120K|METAP2_uc001ted.2_Silent_p.K155K|METAP2_uc001tef.2_Silent_p.K133K|METAP2_uc001tee.2_RNA NM_006838 NP_006829 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 156 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 L-Methionine(DB00134) AAGAAAAGAAAGCATTAGATC 0.403 NA 3 54 0 0 0 0 APAF1 317 broad.mit.edu 37 12 99042256 99042256 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:99042256A>T uc001tfz.2 + 2 696 c.119A>T c.(118-120)GAG>GTG p.E40V APAF1_uc001tfy.2_Missense_Mutation_p.E40V|APAF1_uc001tga.2_Missense_Mutation_p.E40V|APAF1_uc001tgb.2_Missense_Mutation_p.E40V|APAF1_uc001tgc.2_Missense_Mutation_p.E40V NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 40 CARD. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) ATATCAGAAGAGGAAAAAGTA 0.348 NA 4 112 0 0 0 0 UTP20 27340 broad.mit.edu 37 12 101732715 101732715 + Silent SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:101732715A>G uc001tia.1 + 31 4149 c.3993A>G c.(3991-3993)AAA>AAG p.K1331K NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1331 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 AAGTCAGTAAAGAGCTTGGCA 0.299 NA 19 36 0 0 0 0 C12orf52 84934 broad.mit.edu 37 12 113629453 113629453 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:113629453C>G uc001tur.1 + 4 1109 c.641C>G c.(640-642)GCC>GGC p.A214G C12orf52_uc009zwg.1_Missense_Mutation_p.A211G|C12orf52_uc001tus.1_Missense_Mutation_p.A214G|C12orf52_uc001tut.1_Missense_Mutation_p.A238G NM_032848 NP_116237 Q96K30 RITA_HUMAN hypothetical protein LOC84934 214 Interaction with tubulin. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding 0 GGTCATCCAGCCACCAGTGCC 0.602 NA 3 62 0 0 0 0 TMEM120B 144404 broad.mit.edu 37 12 122213541 122213541 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr12:122213541C>T uc001ubc.3 + 12 1077 c.933C>T c.(931-933)CTC>CTT p.L311L TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 311 Helical; (Potential). integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) TCACCTTCCTCATCCTCTTCC 0.612 NA OREG0022207 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 60 0 0 0 0 DCLK1 9201 broad.mit.edu 37 13 36382386 36382386 + Missense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr13:36382386C>A uc001uvf.2 - 14 2071 c.1838G>T c.(1837-1839)TGG>TTG p.W613L DCLK1_uc001uve.3_Missense_Mutation_p.W306L|DCLK1_uc010teh.1_Missense_Mutation_p.W306L|DCLK1_uc010abk.2_Missense_Mutation_p.W133L NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 613 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AACATTATCCCAGTATGGAGA 0.428 NA 6 139 8.13e-05 9.33e-05 1 0 RBM26 64062 broad.mit.edu 37 13 79896555 79896555 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr13:79896555G>C uc001vkz.2 - 21 2883 c.2869C>G c.(2869-2871)CTG>GTG p.L957V RBM26_uc001vky.2_Missense_Mutation_p.L928V|RBM26_uc001vla.2_Missense_Mutation_p.L931V|RBM26_uc010tia.1_Missense_Mutation_p.L312V|RBM26_uc001vkx.2_Missense_Mutation_p.L667V NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 955 RRM 2. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TTCCATGCCAGTTTTAGATCT 0.299 NA 21 17 0 0 0 0 PRKD1 5587 broad.mit.edu 37 14 30046531 30046531 + Silent SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr14:30046531C>A uc001wqh.2 - 18 2833 c.2652G>T c.(2650-2652)CTG>CTT p.L884L NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 884 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TTGGATTGATCAGGTGTGTGG 0.527 NA 34 101 1.22e-17 1.55e-17 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68272336 68272337 + Splice_Site DNP CT CT AC TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr14:68272336_68272337CT>AC uc001xka.2 - 7 1157 c.1018_splice c.e7-1 p.V340_splice ZFYVE26_uc010tsz.1_Splice_Site|ZFYVE26_uc001xkc.3_Splice_Site_p.V340_splice|ZFYVE26_uc010tta.1_Splice_Site_p.V340_splice NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GTGCTGTTACCTGTAAGTCAAA 0.431 NA 7 54 0 0 0 0 DLST 1743 broad.mit.edu 37 14 75369021 75369021 + Silent SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr14:75369021C>G uc001xqv.2 + 15 1413 c.1350C>G c.(1348-1350)CTC>CTG p.L450L DLST_uc001xqt.2_Silent_p.L366L|DLST_uc010tuw.1_Silent_p.L364L NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 450 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) GAGTCCTCCTCCTGGATCTTT 0.547 NA 15 56 0 0 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058474 95058474 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr14:95058474G>T uc001ydm.2 + 6 1329 c.1119G>T c.(1117-1119)AGG>AGT p.R373S SERPINA3_uc001ydo.3_Splice_Site NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 373 Reactive bond. fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TCACTTTCAGGTCGGCCCGCC 0.562 NA 9 442 0.000274275 0.000309829 1 0 PPP2R5C 5527 broad.mit.edu 37 14 102384193 102384193 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr14:102384193C>T uc001yko.2 + 13 1492 c.1352C>T c.(1351-1353)ACC>ATC p.T451I PPP2R5C_uc010txr.1_Missense_Mutation_p.T482I|PPP2R5C_uc001ykk.2_Intron|PPP2R5C_uc001ykp.2_Intron NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 451 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 CAAGCCAGCACCATGAGCATT 0.502 NA 45 108 0 0 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552329 102552329 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr14:102552329T>C uc001yku.3 - 3 485 c.295A>G c.(295-297)ACC>GCC p.T99A HSP90AA1_uc001ykv.3_Missense_Mutation_p.T221A|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.T88A NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 99 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) TCAGCCTTGGTCATTCCAATT 0.433 NA 4 85 0 0 0 0 BAHD1 22893 broad.mit.edu 37 15 40756083 40756083 + Silent SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr15:40756083A>G uc001zlu.2 + 4 1910 c.1839A>G c.(1837-1839)CGA>CGG p.R613R BAHD1_uc001zlt.2_Silent_p.R612R|BAHD1_uc010bbp.1_Silent_p.R612R|BAHD1_uc001zlv.2_Silent_p.R613R NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 613 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CAGCCATCCGAAAGAGCTACC 0.552 NA 7 14 0 0 0 0 RPAP1 26015 broad.mit.edu 37 15 41814044 41814044 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr15:41814044G>C uc001zod.2 - 21 3054 c.2930C>G c.(2929-2931)GCC>GGC p.A977G RPAP1_uc001zoc.2_5'UTR NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 977 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) ATGATAGAGGGCAGCATGGGT 0.602 NA 3 26 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43819557 43819557 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr15:43819557G>C uc001zrt.2 + 4 6353 c.5886G>C c.(5884-5886)GAG>GAC p.E1962D NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1962 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ATCCTGATGAGAGAAGCTTTC 0.562 NA 24 62 0 0 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500299 48500299 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr15:48500299G>A uc001zwn.3 + 2 599 c.383G>A c.(382-384)CGA>CAA p.R128Q SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.R128Q|SLC12A1_uc010uex.1_Missense_Mutation_p.R128Q NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 128 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AAGGTCAACCGACCCAGCCTG 0.473 NA 13 48 0 0 0 0 WDR72 256764 broad.mit.edu 37 15 53998227 53998227 + Silent SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr15:53998227T>C uc002acj.2 - 10 1041 c.999A>G c.(997-999)AAA>AAG p.K333K WDR72_uc010bfi.1_Silent_p.K333K NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 333 WD 4. lung(1)|skin(1) 2 all cancers(107;0.0511) AAAAAGGCTCTTTCCTTTCAT 0.403 NA 4 31 0 0 0 0 ARNT2 9915 broad.mit.edu 37 15 80762647 80762647 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr15:80762647G>T uc002bfr.2 + 4 449 c.283G>T c.(283-285)GCA>TCA p.A95S ARNT2_uc002bfq.2_Missense_Mutation_p.A95S|ARNT2_uc010unm.1_Missense_Mutation_p.A84S|ARNT2_uc002bfs.2_Missense_Mutation_p.A84S NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 95 Helix-loop-helix motif. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) CACATGCAGCGCACTGGCTCG 0.552 NA 13 31 1.36e-13 1.71e-13 1 0 ARNT2 9915 broad.mit.edu 37 15 80872870 80872870 + Missense_Mutation SNP C C T rs144530385 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr15:80872870C>T uc002bfr.2 + 16 1898 c.1732C>T c.(1732-1734)CGT>TGT p.R578C ARNT2_uc010unm.1_Missense_Mutation_p.R567C|ARNT2_uc002bfs.2_Missense_Mutation_p.R567C NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 578 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GACAGGGAGTCGTCCGCCCTT 0.567 NA 15 39 0 0 0 0 MAN2A2 4122 broad.mit.edu 37 15 91447520 91447520 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr15:91447520G>A uc010bnz.2 + 2 198 c.83G>A c.(82-84)CGA>CAA p.R28Q MAN2A2_uc010boa.2_Missense_Mutation_p.R70Q|MAN2A2_uc002bqc.2_Missense_Mutation_p.R28Q|MAN2A2_uc010uql.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 28 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) ATGCTGGACCGAGTGCAACAC 0.547 NA 23 76 0 0 0 0 CACNA1H 8912 broad.mit.edu 37 16 1262016 1262016 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:1262016T>C uc002cks.2 + 25 4885 c.4637T>C c.(4636-4638)GTG>GCG p.V1546A CACNA1H_uc002ckt.2_Missense_Mutation_p.V1546A|CACNA1H_uc002cku.2_Missense_Mutation_p.V252A|CACNA1H_uc010brj.2_Missense_Mutation_p.V252A|CACNA1H_uc002ckv.2_Missense_Mutation_p.V252A NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1546 Helical; Name=S6 of repeat III; (Potential).|III. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGCTTCTTCGTGCTCAACATG 0.642 NA 98 175 0 0 0 0 UMOD 7369 broad.mit.edu 37 16 20347992 20347992 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:20347992T>C uc002dgz.2 - 9 1927 c.1798A>G c.(1798-1800)AAC>GAC p.N600D UMOD_uc002dha.2_Missense_Mutation_p.N600D|UMOD_uc002dhb.2_Missense_Mutation_p.N633D NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 600 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 GGACCCAAGTTCAGGACACGG 0.527 NA 6 47 0 0 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802394 24802394 + Missense_Mutation SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:24802394A>G uc002dmm.2 + 6 2545 c.2431A>G c.(2431-2433)ACA>GCA p.T811A TNRC6A_uc010bxs.2_Missense_Mutation_p.T558A|TNRC6A_uc010vcc.1_Missense_Mutation_p.T558A|TNRC6A_uc002dmn.2_Missense_Mutation_p.T558A|TNRC6A_uc002dmo.2_Missense_Mutation_p.T558A NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 811 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TTCTGCTGCTACAGGAATGGT 0.517 NA 9 29 0 0 0 0 NOD2 64127 broad.mit.edu 37 16 50733835 50733835 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:50733835C>T uc002egm.1 + 2 615 c.510C>T c.(508-510)ATC>ATT p.I170I NOD2_uc010cbj.1_Silent_p.I143I|NOD2_uc010cbk.1_Silent_p.I143I|NOD2_uc002egl.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 170 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) GTGATGAAATCAGGTTGCCGA 0.552 NA 19 41 0 0 0 0 RANBP10 57610 broad.mit.edu 37 16 67778258 67778258 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:67778258G>A uc002eud.2 - 4 617 c.501C>T c.(499-501)GAC>GAT p.D167D RANBP10_uc010ceo.2_Translation_Start_Site|RANBP10_uc010vju.1_Intron|RANBP10_uc010vjv.1_Silent_p.D50D|RANBP10_uc010vjx.1_Silent_p.D167D|RANBP10_uc010vjy.1_Silent_p.D35D NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 167 B30.2/SPRY. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) AGCCGATCACGTCTCCTGTGG 0.547 NA 19 79 0 0 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67860602 67860602 + Missense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:67860602C>A uc002euj.2 + 12 1641 c.1247C>A c.(1246-1248)ACG>AAG p.T416K TSNAXIP1_uc010vjz.1_Missense_Mutation_p.T293K|TSNAXIP1_uc002euf.3_Missense_Mutation_p.T149K|TSNAXIP1_uc010vka.1_Missense_Mutation_p.T470K|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.T401K|TSNAXIP1_uc002eug.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002euh.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002eui.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002euk.2_Missense_Mutation_p.T149K NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 416 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CAGAAAGAGACGTTCCCAGAT 0.493 NA 42 83 3.43e-23 4.36e-23 1 0 COG4 25839 broad.mit.edu 37 16 70548314 70548314 + Missense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:70548314C>A uc002ezc.2 - 4 479 c.468G>T c.(466-468)GAG>GAT p.E156D COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.E156D|COG4_uc002eze.2_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 152 Interacts with STX5. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) CTGCAGCCTGCTCATAATCTT 0.353 NA 11 50 3.07e-06 3.66e-06 1 0 HP 3240 broad.mit.edu 37 16 72094609 72094609 + Silent SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:72094609A>G uc002fbr.3 + 7 1085 c.1041A>G c.(1039-1041)CAA>CAG p.Q347Q TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.Q288Q|HP_uc002fbt.3_Silent_p.Q288Q|HP_uc002fbu.1_Silent_p.Q85Q|HP_uc002fbv.3_Silent_p.Q258Q|HP_uc002fbw.3_Silent_p.Q169Q|HP_uc002fbx.3_Silent_p.Q169Q|HPR_uc002fby.2_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN haptoglobin isoform 1 preproprotein 347 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity 0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) CTAAGTACCAAGAAGACACCT 0.537 NA 8 115 0 0 0 0 TUBB3 10381 broad.mit.edu 37 16 90001910 90001910 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr16:90001910G>T uc002fph.1 + 4 1116 c.1051G>T c.(1051-1053)GTG>TTG p.V351L TUBB3_uc002fpf.2_Missense_Mutation_p.V698L|TUBB3_uc010ciz.1_Missense_Mutation_p.V279L|TUBB3_uc002fpg.1_Missense_Mutation_p.V205L|TUBB3_uc002fpi.1_Missense_Mutation_p.V279L|TUBB3_uc002fpj.1_Missense_Mutation_p.V279L|TUBB3_uc010cjb.1_Missense_Mutation_p.V205L|TUBB3_uc002fpk.1_Missense_Mutation_p.V205L NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 351 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CAACGTGAAGGTGGCCGTGTG 0.612 NA 15 250 0.000308642 0.000347731 1 0 YWHAE 7531 broad.mit.edu 37 17 1268247 1268247 + Missense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr17:1268247C>A uc002fsj.2 - 2 322 c.170G>T c.(169-171)AGA>ATA p.R57I YWHAE_uc002fsk.2_Missense_Mutation_p.R35I|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 57 Interaction with phosphoserine on interacting protein. apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) CCAGGAGGCTCTTCTAGCTCC 0.423 NA 5 142 3.6e-05 4.19e-05 1 0 MYH1 4619 broad.mit.edu 37 17 10395815 10395815 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr17:10395815C>T uc002gmo.2 - 40 5832 c.5738G>A c.(5737-5739)CGG>CAG p.R1913Q uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1913 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AATGTCAGCCCGTTCCTCGGC 0.483 NA 4 165 0 0 0 0 GOSR1 9527 broad.mit.edu 37 17 28849344 28849344 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr17:28849344G>A uc002hfe.2 + 9 727 c.701G>A c.(700-702)GGG>GAG p.G234E GOSR1_uc002hfd.2_Missense_Mutation_p.G232E|GOSR1_uc002hff.2_Missense_Mutation_p.G169E NM_004871 NP_004862 O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 isoform 1 234 Helical; Anchor for type IV membrane protein; (Potential). intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|SNARE complex SNAP receptor activity 0 CTCATCCTAGGGGGTGTTATT 0.498 NA 8 395 0 0 0 0 CCL23 6368 broad.mit.edu 37 17 34341417 34341417 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr17:34341417G>T uc002hkt.1 - 2 164 c.93C>A c.(91-93)TTC>TTA p.F31L CCL23_uc002hks.1_Missense_Mutation_p.F31L NM_145898 NP_665905 P55773 CCL23_HUMAN small inducible cytokine A23 isoform CKbeta8 31 MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1). cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) TTGACATCATGAACTCTGTCT 0.483 NA 9 30 3.1e-07 3.76e-07 1 0 MLLT6 4302 broad.mit.edu 37 17 36868952 36868952 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr17:36868952G>A uc002hqi.3 + 8 742 c.729G>A c.(727-729)AAG>AAA p.K243K MLLT6_uc010wdr.1_Silent_p.K243K|MLLT6_uc010cvm.1_Silent_p.K243K|MLLT6_uc002hqj.2_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 243 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) AGAGTCGAAAGGACAAAGAAC 0.592 NA T MLL AL 4 80 0 0 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280340 39280340 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr17:39280340T>C uc002hwa.2 - 1 80 c.35A>G c.(34-36)GAC>GGC p.D12G NM_031854 NP_114060 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 12 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACAGCCCTGGTCAGAGCACAC 0.617 NA 23 108 0 0 0 0 TCEB3C 162699 broad.mit.edu 37 18 44549224 44549224 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr18:44549224G>A uc010dnr.2 - 1 1075 c.1075C>T c.(1075-1077)CCC>TCC p.P359S KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_001100817 NP_001094287 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 359 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 ACCGAGTAGGGGACCCCTTCC 0.637 NA 9 546 0 0 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390542 61390542 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr18:61390542C>T uc002ljk.3 + 9 1150 c.1088C>T c.(1087-1089)GCT>GTT p.A363V SERPINB11_uc010xes.1_Missense_Mutation_p.A188V|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.A249V|SERPINB11_uc010dqe.2_Missense_Mutation_p.A162V|SERPINB11_uc010dqf.2_Missense_Mutation_p.A161V NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 363 RCL (By similarity). regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) CCAATGAGAGCTCAGTTCAAG 0.517 NA 29 66 0 0 0 0 EMR1 2015 broad.mit.edu 37 19 6926416 6926416 + Missense_Mutation SNP T T G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:6926416T>G uc002mfw.2 + 16 2064 c.2026T>G c.(2026-2028)TTC>GTC p.F676V EMR1_uc010dvc.2_Missense_Mutation_p.F611V|EMR1_uc010dvb.2_Missense_Mutation_p.F624V|EMR1_uc010xji.1_Missense_Mutation_p.F535V|EMR1_uc010xjj.1_Missense_Mutation_p.F499V NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 676 Helical; Name=3; (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) GCACTACCTTTTCCTTGCCTG 0.517 NA 16 78 0 0 0 0 FCER2 2208 broad.mit.edu 37 19 7754314 7754314 + Missense_Mutation SNP T T G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:7754314T>G uc002mhn.2 - 11 915 c.731A>C c.(730-732)AAC>ACC p.N244T FCER2_uc010xjs.1_Missense_Mutation_p.N166T|FCER2_uc010xjt.1_Missense_Mutation_p.N166T|FCER2_uc002mhm.2_Missense_Mutation_p.N244T NM_002002 NP_001993 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor 244 C-type lectin.|Extracellular (Potential). positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding 0 TGGAGCCCAGTTGCTGGAGCA 0.667 NA 2 7 0 0 0 0 CLEC4G 339390 broad.mit.edu 37 19 7794310 7794310 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:7794310T>C uc002mhp.3 - 9 893 c.824A>G c.(823-825)GAC>GGC p.D275G NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 275 Extracellular (Potential).|C-type lectin. integral to membrane protein binding|sugar binding 0 ACACGGTGCGTCGTTCCACAG 0.632 NA 3 47 0 0 0 0 ARRDC2 27106 broad.mit.edu 37 19 18119198 18119198 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:18119198G>A uc002nhv.2 + 1 222 c.79G>A c.(79-81)GGC>AGC p.G27S ARRDC2_uc002nhu.2_Intron NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 27 pancreas(1) 1 GTTTAGCGGCGGCCAGGCCGT 0.726 NA 8 26 0 0 0 0 NUDT19 390916 broad.mit.edu 37 19 33200163 33200163 + Missense_Mutation SNP G G A rs149924778 by1000genomes TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:33200163G>A uc010edf.2 + 2 787 c.787G>A c.(787-789)GAA>AAA p.E263K NM_001105570 NP_001099040 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety 263 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding 0 Esophageal squamous(110;0.137) ACAGTTCTACGAAGTGAGAAG 0.443 NA 11 234 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NA 11 24 0 0 0 0 ATP1A3 478 broad.mit.edu 37 19 42471441 42471441 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:42471441G>A uc002osg.2 - 22 3127 c.2973C>T c.(2971-2973)TAC>TAT p.Y991Y ATP1A3_uc010xwf.1_Silent_p.Y1002Y|ATP1A3_uc010xwg.1_Silent_p.Y961Y|ATP1A3_uc010xwh.1_Silent_p.Y1004Y|ATP1A3_uc002osh.2_Silent_p.Y991Y NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 991 Helical; (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GGATTTCGTCGTAGACGAAGA 0.652 NA 22 29 0 0 0 0 GRLF1 2909 broad.mit.edu 37 19 47423097 47423097 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:47423097G>C uc010ekv.2 + 1 1165 c.1165G>C c.(1165-1167)GAT>CAT p.D389H NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 389 FF 2. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GACCCCATGGGATGCCACCAG 0.448 NA 29 97 0 0 0 0 CACNG8 59283 broad.mit.edu 37 19 54466493 54466493 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:54466493G>A uc002qcs.1 + 1 200 c.94G>A c.(94-96)GGC>AGC p.G32S NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 33 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CGCCGCCTTCGGCCTCATGAC 0.667 NA 9 23 0 0 0 0 ZNF446 55663 broad.mit.edu 37 19 58991738 58991738 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:58991738C>T uc002qsz.2 + 7 1115 c.998C>T c.(997-999)ACG>ATG p.T333M ZNF446_uc002qta.2_Missense_Mutation_p.R305C|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 333 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AAGCCCTACACGTGCGAGCAG 0.682 NA 7 22 0 0 0 0 XDH 7498 broad.mit.edu 37 2 31600014 31600014 + Silent SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:31600014T>A uc002rnv.1 - 14 1411 c.1332A>T c.(1330-1332)CCA>CCT p.P444P NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 444 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTGTGGTTCCTGGCTTGAATA 0.502 NA 6 94 0 0 0 0 SRD5A2 6716 broad.mit.edu 37 2 31805847 31805847 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:31805847G>A uc002rnw.1 - 2 195 c.124C>T c.(124-126)CCG>TCG p.P42S NM_000348 NP_000339 P31213 S5A2_HUMAN 3-oxo-5 alpha-steroid 4-dehydrogenase 2 42 androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity 0 Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GTAGCCGCCGGCTTCAGGCTC 0.721 NA 8 27 0 0 0 0 C2orf63 130162 broad.mit.edu 37 2 55407665 55407666 + Missense_Mutation DNP CT CT AA TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:55407665_55407666CT>AA uc002ryi.2 - 11 1710_1711 c.1364_1365AG>TT c.(1363-1365)CAG>CTT p.Q455L C2orf63_uc002ryh.2_Missense_Mutation_p.Q6L|C2orf63_uc002ryj.2_Missense_Mutation_p.Q333L NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 455 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) AGTCCTTCAACTGCTGTATGTA 0.391 NA 4 74 0 0 0 0 CCDC88A 55704 broad.mit.edu 37 2 55539617 55539617 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:55539617C>G uc002ryv.2 - 23 4871 c.4029G>C c.(4027-4029)CAG>CAC p.Q1343H CCDC88A_uc010yoz.1_Missense_Mutation_p.Q1344H|CCDC88A_uc010ypa.1_Missense_Mutation_p.Q1343H|CCDC88A_uc002ryu.2_Missense_Mutation_p.Q626H|CCDC88A_uc002rys.2_Missense_Mutation_p.Q329H|CCDC88A_uc002ryw.2_Missense_Mutation_p.Q627H|CCDC88A_uc010fby.1_Missense_Mutation_p.Q223H NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1344 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TTTCCATATTCTGCTCCAAAA 0.328 NA 13 54 0 0 0 0 ANKRD36 375248 broad.mit.edu 37 2 97845475 97845475 + Missense_Mutation SNP T T G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:97845475T>G uc010yva.1 + 23 1878 c.1634T>G c.(1633-1635)GTG>GGG p.V545G ANKRD36_uc010fic.2_Missense_Mutation_p.V264G|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_Intron NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 545 0 TGCTTTTCAGTGTCTTCTCAG 0.299 NA 4 36 0 0 0 0 SLC5A7 60482 broad.mit.edu 37 2 108625031 108625031 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:108625031G>T uc002tdv.2 + 8 1282 c.1006G>T c.(1006-1008)GGT>TGT p.G336C SLC5A7_uc010ywm.1_Missense_Mutation_p.G89C|SLC5A7_uc010fjj.2_Missense_Mutation_p.G336C|SLC5A7_uc010ywn.1_Missense_Mutation_p.G223C NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 336 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) TTCTTTCTTTGGTCTTGGTGC 0.443 NA 9 39 0.00448238 0.00492025 1 0 RANBP2 5903 broad.mit.edu 37 2 109383950 109383950 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:109383950C>G uc002tem.3 + 20 7081 c.6955C>G c.(6955-6957)CTA>GTA p.L2319V NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2319 RanBD1 3. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TTTACCTGATCTAGTTGAAGT 0.393 NA 102 164 0 0 0 0 HOXD12 3238 broad.mit.edu 37 2 176964535 176964535 + Silent SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:176964535T>C uc010zev.1 + 1 6 c.6T>C c.(4-6)TGT>TGC p.C2C HOXD12_uc010zew.1_Silent_p.C2C NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 2 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) TGGAGATGTGTGAGCGCAGTC 0.542 NA 76 85 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179602873 179602873 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:179602873C>G uc010zfg.1 - 46 10799 c.10575G>C c.(10573-10575)GAG>GAC p.E3525D TTN_uc010zfh.1_Missense_Mutation_p.E4598D|TTN_uc010zfi.1_Missense_Mutation_p.E4531D|TTN_uc010zfj.1_Missense_Mutation_p.E4406D|TTN_uc002umz.1_Missense_Mutation_p.E186D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4452 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCATGTATACTCGCCGCAGT 0.453 NA 11 65 0 0 0 0 DIS3L2 129563 broad.mit.edu 37 2 233128057 233128057 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:233128057C>T uc010fxz.2 + 13 1842 c.1566C>T c.(1564-1566)AGC>AGT p.S522S DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 522 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AGCATAGCAGCGAGGAGGTAC 0.542 NA 14 59 0 0 0 0 USP40 55230 broad.mit.edu 37 2 234465540 234465540 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:234465540C>G uc010zmu.1 - 5 625 c.507G>C c.(505-507)CAG>CAC p.Q169H USP40_uc010zmr.1_Missense_Mutation_p.Q181H Q9NVE5 UBP40_HUMAN SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15); 169 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TACAAACAATCTGGTTAACAA 0.368 NA 10 39 0 0 0 0 AGAP1 116987 broad.mit.edu 37 2 236877176 236877176 + Silent SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:236877176G>C uc002vvs.2 + 13 2149 c.1554G>C c.(1552-1554)CCG>CCC p.P518P AGAP1_uc002vvt.2_Silent_p.P465P NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 518 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 AGCTCGACCCGCCCCCCTCCC 0.577 NA 4 54 0 0 0 0 NOP56 10528 broad.mit.edu 37 20 2636321 2636321 + Missense_Mutation SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:2636321A>G uc002wgh.2 + 7 891 c.838A>G c.(838-840)AGC>GGC p.S280G NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.S114G|NOP56_uc002wgm.1_Missense_Mutation_p.S27G|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 280 Nop. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 ATACCGCCAGAGCCTACACAC 0.512 NA 19 160 0 0 0 0 CENPB 1059 broad.mit.edu 37 20 3766487 3766487 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:3766487T>C uc002wjk.2 - 1 851 c.644A>G c.(643-645)GAC>GGC p.D215G CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 215 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 CGGCCGTCCGTCGCCTCCGCA 0.711 NA 14 144 0 0 0 0 CENPB 1059 broad.mit.edu 37 20 3766501 3766501 + Silent SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:3766501C>A uc002wjk.2 - 1 837 c.630G>T c.(628-630)GGG>GGT p.G210G CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 210 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 CTCCGCACAGCCCCGCGGCCT 0.711 NA 19 143 2.46e-09 3.02e-09 1 0 SNTA1 6640 broad.mit.edu 37 20 32026759 32026759 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:32026759G>A uc002wzd.1 - 2 656 c.384C>T c.(382-384)GCC>GCT p.A128A SNTA1_uc010zuf.1_Silent_p.A128A NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 128 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 CCACAAAAAGGGCCTCTGTCT 0.542 NA 5 305 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40710644 40710644 + Missense_Mutation SNP G G T rs144244064 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:40710644G>T uc002xkg.2 - 30 4334 c.4150C>A c.(4150-4152)CGT>AGT p.R1384S PTPRT_uc010ggj.2_Missense_Mutation_p.R1403S|PTPRT_uc010ggi.2_Missense_Mutation_p.R587S NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1384 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.R1406C(1) skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTTCCACTACGGCCTCCCCCA 0.483 NA 5 171 5.94e-07 7.16e-07 1 0 SGK2 10110 broad.mit.edu 37 20 42195754 42195754 + Missense_Mutation SNP C C T rs141029147 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:42195754C>T uc002xkv.2 + 2 482 c.263C>T c.(262-264)CCA>CTA p.P88L SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.P28L|SGK2_uc010ggm.2_Missense_Mutation_p.P28L|SGK2_uc002xks.2_Missense_Mutation_p.P28L|SGK2_uc002xku.2_Missense_Mutation_p.P28L|SGK2_uc002xkq.1_Missense_Mutation_p.P28L NM_016276 NP_057360 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 isoform 88 intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 6 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCAGCCAACCCAAAGTGAGTT 0.512 NA 4 76 0 0 0 0 WFDC3 140686 broad.mit.edu 37 20 44416545 44416545 + Silent SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:44416545T>C uc002xpf.1 - 4 372 c.288A>G c.(286-288)CCA>CCG p.P96P WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_RNA NM_080614 NP_542181 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 precursor 96 WAP 2. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) TCTTTACACCTGGACATGTCT 0.473 NA 14 133 0 0 0 0 SLC9A8 23315 broad.mit.edu 37 20 48500552 48500552 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:48500552G>T uc002xuv.1 + 14 1650 c.1440G>T c.(1438-1440)AAG>AAT p.K480N SLC9A8_uc010zym.1_Missense_Mutation_p.K180N|SLC9A8_uc010gic.2_Missense_Mutation_p.K180N|SLC9A8_uc010gid.2_Missense_Mutation_p.K104N NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 480 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) AGGACGCCAAGGCACACCGCA 0.612 NA 5 175 5.94e-07 7.16e-07 1 0 NFATC2 4773 broad.mit.edu 37 20 50140072 50140072 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:50140072C>T uc002xwd.2 - 2 928 c.708G>A c.(706-708)TCG>TCA p.S236S NFATC2_uc002xwc.2_Silent_p.S236S|NFATC2_uc010zyv.1_Silent_p.S17S|NFATC2_uc010zyw.1_Silent_p.S17S|NFATC2_uc010zyx.1_Silent_p.S216S|NFATC2_uc010zyy.1_Silent_p.S17S|NFATC2_uc010zyz.1_Silent_p.S17S|NFATC2_uc002xwe.2_Silent_p.S216S NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 236 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GGGGCACGGGCGAGTGGCGGC 0.667 NA 22 200 0 0 0 0 ZFP64 55734 broad.mit.edu 37 20 50705115 50705115 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:50705115G>A uc002xwk.2 - 8 1393 c.1044C>T c.(1042-1044)CAC>CAT p.H348H ZFP64_uc002xwj.2_Silent_p.H129H NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform d 305 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GGCACCGCATGTGCATGGTCA 0.522 NA 83 121 0 0 0 0 TCFL5 10732 broad.mit.edu 37 20 61490757 61490757 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr20:61490757C>G uc002ydp.2 - 3 1046 c.953G>C c.(952-954)AGA>ACA p.R318T TCFL5_uc002ydo.2_Missense_Mutation_p.R91T|TCFL5_uc002ydq.2_Missense_Mutation_p.R318T NM_006602 NP_006593 Q9UL49 TCFL5_HUMAN transcription factor-like 5 protein 318 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1) 1 Breast(26;5.68e-08) AACTTTGTTTCTACTACCTAA 0.443 NA 35 329 0 0 0 0 SYNJ1 8867 broad.mit.edu 37 21 34025655 34025655 + Missense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr21:34025655C>A uc002yqh.2 - 22 2934 c.2934G>T c.(2932-2934)TGG>TGT p.W978C SYNJ1_uc011ads.1_Missense_Mutation_p.W934C|SYNJ1_uc002yqf.2_Missense_Mutation_p.W939C|SYNJ1_uc002yqg.2_Missense_Mutation_p.W934C|SYNJ1_uc002yqi.2_Missense_Mutation_p.W978C NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 939 RRM.|Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 AAAATGTAACCCACATTTTAT 0.323 NA 4 37 0.00909568 0.00983255 1 0 SYNJ1 8867 broad.mit.edu 37 21 34072212 34072212 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr21:34072212A>T uc002yqh.2 - 4 532 c.532T>A c.(532-534)TTA>ATA p.L178I SYNJ1_uc011ads.1_Missense_Mutation_p.L139I|SYNJ1_uc002yqf.2_Missense_Mutation_p.L139I|SYNJ1_uc002yqg.2_Missense_Mutation_p.L139I|SYNJ1_uc002yqi.2_Missense_Mutation_p.L178I NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 139 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 CTCAAATCTAAACTGATGCCA 0.388 NA 6 24 0 0 0 0 CRYZL1 9946 broad.mit.edu 37 21 34997056 34997056 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr21:34997056G>T uc011adw.1 - 3 257 c.77C>A c.(76-78)CCT>CAT p.P26H DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.P50H|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Missense_Mutation_p.P26H NM_145858 NP_665857 O95825 QORL1_HUMAN crystallin, zeta-like 1 26 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding 0 CTCTGTAACAGGAAGATCTTC 0.299 NA 14 57 1.36e-06 1.64e-06 1 0 RTN4R 65078 broad.mit.edu 37 22 20229737 20229737 + Nonsense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr22:20229737G>A uc002zrv.2 - 2 1120 c.919C>T c.(919-921)CAG>TAG p.Q307* RTN4R_uc002zru.2_Nonsense_Mutation_p.Q79* NM_023004 NP_075380 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor precursor 307 LRRCT. axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity 0 Colorectal(54;0.0993) GCGCAGCCCTGCAGGTCATTG 0.682 NA 7 12 0 0 0 0 TGFBR2 7048 broad.mit.edu 37 3 30732963 30732963 + Nonsense_Mutation SNP G G T rs121918714 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:30732963G>T uc003ceo.2 + 7 1958 c.1576G>T c.(1576-1578)GAG>TAG p.E526* TGFBR2_uc003cen.2_Nonsense_Mutation_p.E551* NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 526 Protein kinase.|Cytoplasmic (Potential). E -> Q (in esophageal cancer). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CCACGACCCAGAGGCCCGTCT 0.602 NA 32 26 2.08e-15 2.63e-15 1 0 SCN11A 11280 broad.mit.edu 37 3 38888436 38888436 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:38888436C>G uc011ays.1 - 26 5324 c.5125G>C c.(5125-5127)GAG>CAG p.E1709Q NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1709 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGAACTTCTCTTCCATCATT 0.458 NA 30 95 0 0 0 0 CCR2 729230 broad.mit.edu 37 3 46399419 46399419 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:46399419T>A uc003cpn.3 + 2 886 c.401T>A c.(400-402)CTG>CAG p.L134Q CCR2_uc003cpm.3_Missense_Mutation_p.L134Q NM_001123041 NP_001116513 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 isoform A 134 Helical; Name=3; (Potential). astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity lung(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) ATCATCCTCCTGACAATCGAT 0.463 NA 22 419 0 0 0 0 ZBTB11 27107 broad.mit.edu 37 3 101375081 101375081 + Missense_Mutation SNP C C G rs144559723 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:101375081C>G uc003dve.3 - 7 2288 c.2058G>C c.(2056-2058)AAG>AAC p.K686N NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 686 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AGATAAAAGTCTTTCCACAGA 0.333 NA 7 32 0 0 0 0 TRH 7200 broad.mit.edu 37 3 129695649 129695649 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:129695649G>T uc003enc.2 + 3 880 c.319G>T c.(319-321)GCT>TCT p.A107S NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 107 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 agaagggggggCTGTGGGACC 0.428 NA 5 80 0.000602214 0.000674923 1 0 STAG1 10274 broad.mit.edu 37 3 136219098 136219098 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:136219098G>C uc003era.1 - 9 1161 c.869C>G c.(868-870)TCT>TGT p.S290C STAG1_uc003erb.1_Missense_Mutation_p.S290C|STAG1_uc003erc.1_Missense_Mutation_p.S64C|STAG1_uc010hua.1_Missense_Mutation_p.S153C|STAG1_uc003erd.2_Missense_Mutation_p.S193C NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 290 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 CTTAAAAATAGAGTTCATCAT 0.279 NA 4 8 0 0 0 0 CLDN18 51208 broad.mit.edu 37 3 137749921 137749921 + Missense_Mutation SNP G G A rs141484279 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:137749921G>A uc003ero.1 + 5 777 c.724G>A c.(724-726)GAT>AAT p.D242N CLDN18_uc003erp.1_Missense_Mutation_p.D242N|CLDN18_uc010hue.1_Missense_Mutation_p.D198N NM_001002026 NP_001002026 P56856 CLD18_HUMAN claudin 18 isoform 2 242 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity upper_aerodigestive_tract(1)|ovary(1) 2 GAAGATATACGATGGAGGTGC 0.517 NA 27 149 0 0 0 0 RASA2 5922 broad.mit.edu 37 3 141328366 141328366 + Splice_Site SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:141328366G>T uc003etz.1 + 22 2329 c.2329_splice c.e22+1 p.E777_splice RASA2_uc010huq.1_Splice_Site_p.E781_splice|RASA2_uc003eua.1_Splice_Site_p.E778_splice NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 AAGATGGAAGGTAAATACACA 0.303 NA 5 54 3.6e-05 4.19e-05 1 0 ATR 545 broad.mit.edu 37 3 142215313 142215313 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:142215313C>T uc003eux.3 - 34 5910 c.5788G>A c.(5788-5790)GTA>ATA p.V1930I NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1930 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TTTCTAGCTACCCTGGCACTC 0.488 NA Other_conserved_DNA_damage_response_genes 4 97 0 0 0 0 ATR 545 broad.mit.edu 37 3 142281919 142281919 + Missense_Mutation SNP G G A rs146405935 by1000genomes TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:142281919G>A uc003eux.3 - 4 447 c.325C>T c.(325-327)CGG>TGG p.R109W NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 109 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GCTGCAATCCGCAGAAGTCTC 0.313 NA Other_conserved_DNA_damage_response_genes 5 158 0 0 0 0 FAM53A 152877 broad.mit.edu 37 4 1656773 1656773 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr4:1656773G>A uc011bve.1 - 4 1012 c.814C>T c.(814-816)CGC>TGC p.R272C FAM53A_uc010ibw.2_Missense_Mutation_p.R272C NM_001013622 NP_001013644 Q6NSI3 FA53A_HUMAN dorsal neural-tube nuclear protein 272 Nuclear localization signal (Potential). nucleus 0 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CTCCGTTTGCGCCGGCTCCTC 0.667 NA 11 40 0 0 0 0 EVC2 132884 broad.mit.edu 37 4 5627547 5627547 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr4:5627547C>T uc003gij.2 - 13 2029 c.1975G>A c.(1975-1977)GAC>AAC p.D659N EVC2_uc011bwb.1_Missense_Mutation_p.D99N|EVC2_uc003gik.2_Missense_Mutation_p.D579N NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 659 Potential. integral to membrane large_intestine(3)|ovary(2) 5 TGCTTTAAGTCATTGTCCAAC 0.383 NA 19 124 0 0 0 0 TLR1 7096 broad.mit.edu 37 4 38800207 38800207 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr4:38800207C>T uc003gtl.2 - 4 520 c.246G>A c.(244-246)CAG>CAA p.Q82Q NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 82 Extracellular (Potential).|LRR 2. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 TATCAAGATACTGGATTCTAT 0.343 NA 8 192 0 0 0 0 SLAIN2 57606 broad.mit.edu 37 4 48380075 48380075 + Nonsense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr4:48380075C>G uc003gya.3 + 3 845 c.701C>G c.(700-702)TCA>TGA p.S234* NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 234 centrosome 0 CCTGGAAATTCAGGTAAGGAG 0.398 NA 3 128 0 0 0 0 LRRC66 339977 broad.mit.edu 37 4 52861436 52861436 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr4:52861436T>C uc003gzi.2 - 4 1765 c.1752A>G c.(1750-1752)ATA>ATG p.I584M NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 584 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GGGAAGCTGTTATTTCTCCGG 0.498 NA 7 247 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66213889 66213889 + Silent SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr4:66213889T>A uc003hcy.2 - 15 2734 c.2541A>T c.(2539-2541)CCA>CCT p.P847P EPHA5_uc003hcx.2_Silent_p.P779P|EPHA5_uc003hcz.2_Silent_p.P825P|EPHA5_uc011cah.1_Silent_p.P848P|EPHA5_uc011cai.1_Silent_p.P826P|EPHA5_uc003hda.2_Silent_p.P848P NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 847 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CTATTGCTTCTGGGGCAGTCC 0.413 NA TSP Lung(17;0.13) 13 50 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66217243 66217243 + Missense_Mutation SNP A A G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr4:66217243A>G uc003hcy.2 - 14 2565 c.2372T>C c.(2371-2373)CTT>CCT p.L791P EPHA5_uc003hcx.2_Missense_Mutation_p.L723P|EPHA5_uc003hcz.2_Missense_Mutation_p.L769P|EPHA5_uc011cah.1_Missense_Mutation_p.L792P|EPHA5_uc011cai.1_Missense_Mutation_p.L770P|EPHA5_uc003hda.2_Missense_Mutation_p.L792P NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 791 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CATGTCAGAAAGGTACTTCAT 0.423 NA TSP Lung(17;0.13) 8 29 0 0 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148944475 148944475 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr4:148944475C>G uc003ilf.2 + 19 1778 c.1778C>G c.(1777-1779)CCA>CGA p.P593R ARHGAP10_uc003ilg.2_Missense_Mutation_p.P242R|ARHGAP10_uc003ilh.2_Missense_Mutation_p.P174R|ARHGAP10_uc003ili.2_Missense_Mutation_p.P26R NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 593 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) GCATCACCCCCAAATGCGCCA 0.512 NA 9 57 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13762885 13762885 + Nonsense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:13762885C>T uc003jfd.2 - 60 10269 c.10227G>A c.(10225-10227)TGG>TGA p.W3409* DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3409 Stalk (By similarity). W -> S (in CILD3). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TAGCTTTCGTCCAGGAACAAA 0.448 NA Kartagener_syndrome 29 106 0 0 0 0 CARD6 84674 broad.mit.edu 37 5 40852441 40852441 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:40852441G>A uc003jmg.2 + 3 1082 c.1007G>A c.(1006-1008)CGA>CAA p.R336Q NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 336 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 GTTCAAGCACGAGATGTGACC 0.458 NA 12 83 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45262321 45262321 + Missense_Mutation SNP G G A rs140758934 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:45262321G>A uc003jok.2 - 8 2400 c.2375C>T c.(2374-2376)TCG>TTG p.S792L NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 792 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ATGGGGCAGCGAGGGCTGCGA 0.637 NA 13 151 0 0 0 0 ITGA1 3672 broad.mit.edu 37 5 52211331 52211331 + Missense_Mutation SNP T T G rs138709169 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:52211331T>G uc003jou.2 + 15 1947 c.1895T>G c.(1894-1896)TTT>TGT p.F632C ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.F163C NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 632 Extracellular (Potential).|FG-GAP 7. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) ACACTGAAATTTTTTGGCCAG 0.423 NA 3 143 0 0 0 0 ISCA1P1 389293 broad.mit.edu 37 5 62073029 62073029 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:62073029G>C uc003jtf.2 - 1 142 c.62C>G c.(61-63)ACC>AGC p.T21S NM_001080540 NP_001074009 iron-sulfur cluster assembly 1 homolog (S. 0 GGCTGCCCGGGTGGGCTGCAG 0.582 NA 20 12 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90040951 90040951 + Silent SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:90040951T>A uc003kju.2 + 51 10734 c.10638T>A c.(10636-10638)CCT>CCA p.P3546P GPR98_uc003kjt.2_Silent_p.P1252P|GPR98_uc003kjv.2_Silent_p.P1146P NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3546 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGAAGTACCTTCTGCTTATG 0.408 NA 9 287 0 0 0 0 PSD2 84249 broad.mit.edu 37 5 139193154 139193154 + Missense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:139193154C>A uc003leu.1 + 3 837 c.632C>A c.(631-633)GCA>GAA p.A211E NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 211 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACATGGGGGCAGCTGGTGGT 0.687 NA 4 52 0.000602214 0.000674923 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553868 140553868 + Silent SNP C C T rs149570059 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:140553868C>T uc003lit.2 + 1 1626 c.1452C>T c.(1450-1452)GCC>GCT p.A484A NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 484 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACCAACGCCCAGGTCATCT 0.642 NA 28 112 0 0 0 0 SPINK5 11005 broad.mit.edu 37 5 147513386 147513386 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:147513386G>A uc003lox.2 + 32 3195 c.3122G>A c.(3121-3123)CGC>CAC p.R1041H SPINK5_uc003loy.2_Missense_Mutation_p.R1071H NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 1041 Kazal-like 15. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACACATCCGCAGTACAGGG 0.468 NA 14 44 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150885203 150885203 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:150885203G>A uc003lue.3 - 23 12986 c.12973C>T c.(12973-12975)CCC>TCC p.P4325S GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P932S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 4325 Cytoplasmic (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCACCCGGGGCTGGCCCTGG 0.622 NA 16 18 0 0 0 0 HRH2 3274 broad.mit.edu 37 5 175110708 175110708 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:175110708T>A uc003mdd.2 + 1 2245 c.472T>A c.(472-474)TGG>AGG p.W158R HRH2_uc003mdc.3_Missense_Mutation_p.W158R NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 158 Helical; Name=4; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CCACCTGGGGTGGAACAGCAG 0.547 NA 15 43 0 0 0 0 BTNL9 153579 broad.mit.edu 37 5 180483002 180483002 + Silent SNP T T G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr5:180483002T>G uc003mmt.2 + 9 1173 c.942T>G c.(940-942)GCT>GCG p.A314A NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 314 Cytoplasmic (Potential).|B30.2/SPRY.|Potential. integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAGACGGGCTGAAGGCCAGG 0.522 NA 4 172 0 0 0 0 SLC17A1 6568 broad.mit.edu 37 6 25826725 25826725 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:25826725G>A uc003nfh.3 - 3 287 c.171C>T c.(169-171)CCC>CCT p.P57P SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.P55P|SLC17A1_uc010jqc.1_Silent_p.P55P NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 57 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 TGGAGGTGTTGGGCAAACCAT 0.408 NA 56 176 0 0 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225492 26225492 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:26225492A>T uc003nhb.2 + 2 470 c.110A>T c.(109-111)AAG>ATG p.K37M HIST1H3E_uc003nhc.3_Missense_Mutation_p.K37M NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 37 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GGCGGCGTGAAGAAGCCCCAT 0.627 NA 87 56 0 0 0 0 OR5V1 81696 broad.mit.edu 37 6 29323045 29323045 + Missense_Mutation SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:29323045G>C uc011dlo.1 - 1 1010 c.928C>G c.(928-930)CCA>GCA p.P310A NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 GAAATTGGTGGCTGCCACTTG 0.368 NA 4 113 0 0 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778509 31778509 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:31778509G>T uc003nxh.2 - 2 1424 c.1241C>A c.(1240-1242)GCC>GAC p.A414D HSPA1L_uc010jte.2_Missense_Mutation_p.A414D NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 414 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 CTTTATCAGGGCAGTCATCAC 0.597 NA 21 226 2.38e-13 2.97e-13 1 0 TAP1 6890 broad.mit.edu 37 6 32819997 32819997 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:32819997C>T uc003ocg.2 - 3 1068 c.913G>A c.(913-915)GGT>AGT p.G305S TAP1_uc011dqi.1_Missense_Mutation_p.G44S|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 305 Helical; Name=6; (Potential).|ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 ATCCCGTCACCCACGAACTCC 0.537 NA 9 123 0 0 0 0 ZNF318 24149 broad.mit.edu 37 6 43305026 43305026 + Missense_Mutation SNP T T G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:43305026T>G uc003oux.2 - 10 6788 c.6710A>C c.(6709-6711)AAA>ACA p.K2237T ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2237 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CACTGGAGCTTTAACCAAATT 0.493 NA 5 119 0 0 0 0 AARS2 57505 broad.mit.edu 37 6 44272035 44272035 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:44272035C>T uc010jza.1 - 14 1893 c.1890G>A c.(1888-1890)GCG>GCA p.A630A SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 630 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCGTATGCTTCGCCATGCAGC 0.627 NA OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 78 0 0 0 0 FAM162B 221303 broad.mit.edu 37 6 117086362 117086362 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:117086362G>A uc003pxi.2 - 2 376 c.229C>T c.(229-231)CTG>TTG p.L77L NM_001085480 NP_001078949 Q5T6X4 F162B_HUMAN hypothetical protein LOC221303 77 integral to membrane 0 GTCCACAGCAGGATTTTCTTG 0.632 NA 14 48 0 0 0 0 FNDC1 84624 broad.mit.edu 37 6 159687230 159687230 + Missense_Mutation SNP T T C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:159687230T>C uc010kjv.2 + 21 5599 c.5399T>C c.(5398-5400)CTT>CCT p.L1800P NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1800 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGAGTTGTTCTTTGTAATTCA 0.443 NA 26 72 0 0 0 0 PLG 5340 broad.mit.edu 37 6 161143527 161143527 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:161143527G>T uc003qtm.3 + 10 1247 c.1184G>T c.(1183-1185)GGA>GTA p.G395V NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 395 Kringle 4. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACCACCACAGGAAAGAAGTGT 0.493 NA 11 112 3.86e-05 4.48e-05 1 0 C7orf50 84310 broad.mit.edu 37 7 1037377 1037377 + Nonsense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr7:1037377C>A uc003sju.2 - 5 539 c.469G>T c.(469-471)GAG>TAG p.E157* C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Nonsense_Mutation_p.E157*|C7orf50_uc011jvu.1_Nonsense_Mutation_p.E157* NM_032350 NP_115726 Q9BRJ6 CG050_HUMAN hypothetical protein LOC84310 157 protein binding 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) ACCGTCAGCTCTCGGGCCCGG 0.687 NA 5 100 0.00116845 0.00129929 1 0 CHST12 55501 broad.mit.edu 37 7 2472365 2472365 + Missense_Mutation SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr7:2472365G>A uc003smc.2 + 2 226 c.91G>A c.(91-93)GCC>ACC p.A31T CHST12_uc003smd.2_Missense_Mutation_p.A31T NM_018641 NP_061111 Q9NRB3 CHSTC_HUMAN carbohydrate sulfotransferase 12 31 Lumenal (Potential). dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding kidney(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CAGCGCAGGCGCCGCGCACTT 0.687 NA 68 63 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11630196 11630196 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr7:11630196G>A uc003ssf.3 - 4 1596 c.1344C>T c.(1342-1344)CGC>CGT p.R448R NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 448 Extracellular (Potential).|TSP type-1 4. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCTGGTTGCCGCGCCTCTTGT 0.557 NA HNSCC(18;0.044) 10 48 0 0 0 0 DFNA5 1687 broad.mit.edu 37 7 24758712 24758712 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr7:24758712T>A uc010kus.1 - 4 618 c.530A>T c.(529-531)GAG>GTG p.E177V DFNA5_uc003swz.2_Missense_Mutation_p.E13V|DFNA5_uc003sxa.1_Missense_Mutation_p.E177V|DFNA5_uc010kut.1_Missense_Mutation_p.E13V|DFNA5_uc003sxb.2_Missense_Mutation_p.E177V NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 177 sensory perception of sound ovary(1) 1 ACACTTCTCCTCGACCTGCAT 0.577 NA 29 135 0 0 0 0 ELMO1 9844 broad.mit.edu 37 7 37250998 37250998 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr7:37250998C>T uc003tfk.1 - 13 1386 c.1079G>A c.(1078-1080)GGG>GAG p.G360E ELMO1_uc011kbc.1_Missense_Mutation_p.G264E|ELMO1_uc010kxg.1_Missense_Mutation_p.G360E NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 360 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 TACAATGAACCCAAGCTTCTT 0.507 NA 4 52 0 0 0 0 SEMA3A 10371 broad.mit.edu 37 7 83592582 83592582 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr7:83592582T>A uc003uhz.2 - 16 2114 c.1799A>T c.(1798-1800)AAG>ATG p.K600M NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 600 Ig-like C2-type. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TCTCTGCGACTTCGGACTGCA 0.438 NA 34 85 0 0 0 0 TRRAP 8295 broad.mit.edu 37 7 98548528 98548528 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr7:98548528C>G uc003upp.2 + 38 5552 c.5343C>G c.(5341-5343)TTC>TTG p.F1781L TRRAP_uc011kis.1_Missense_Mutation_p.F1763L|TRRAP_uc003upr.2_Missense_Mutation_p.F1480L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1781 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATCCTGCTTTCTTGTACAGCT 0.418 NA 7 207 0 0 0 0 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NA 6 28 0 0 0 0 EFHA2 286097 broad.mit.edu 37 8 16948072 16948072 + Silent SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr8:16948072A>T uc003wxd.2 + 8 909 c.867A>T c.(865-867)GGA>GGT p.G289G NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 289 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) AACTTTATGGATACCATTCTC 0.323 NA 6 241 0 0 0 0 CHD7 55636 broad.mit.edu 37 8 61777711 61777711 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr8:61777711C>T uc003xue.2 + 38 8690 c.8213C>T c.(8212-8214)ACG>ATG p.T2738M NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2738 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GTGGCCTCCACGTCAGGGATC 0.612 NA 9 17 0 0 0 0 ASPH 444 broad.mit.edu 37 8 62556539 62556539 + Missense_Mutation SNP T T G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr8:62556539T>G uc003xuj.2 - 8 943 c.674A>C c.(673-675)GAT>GCT p.D225A ASPH_uc011leg.1_Missense_Mutation_p.D196A|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Missense_Mutation_p.D211A|ASPH_uc011lei.1_Missense_Mutation_p.D211A|ASPH_uc011lej.1_Missense_Mutation_p.D168A|ASPH_uc003xun.2_Missense_Mutation_p.D182A|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Missense_Mutation_p.D225A NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 225 Glu-rich.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTCTTCCATATCCTGATTACA 0.328 NA 7 19 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100513997 100513997 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr8:100513997C>G uc003yiv.2 + 26 4064 c.3953C>G c.(3952-3954)ACC>AGC p.T1318S VPS13B_uc003yiw.2_Missense_Mutation_p.T1318S|VPS13B_uc003yiu.1_Missense_Mutation_p.T1318S|VPS13B_uc003yix.1_Missense_Mutation_p.T788S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1318 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATTGGAGGAACCAGTGGACGT 0.423 NA 10 125 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509169 110509169 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr8:110509169A>T uc003yne.2 + 64 10453 c.10349A>T c.(10348-10350)AAG>ATG p.K3450M NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3450 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCTGTGGAAAAGTGGTTTGAC 0.373 NA HNSCC(38;0.096) 22 106 0 0 0 0 FAM83A 84985 broad.mit.edu 37 8 124219421 124219421 + Silent SNP G G C TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr8:124219421G>C uc003ypv.2 + 5 2812 c.798G>C c.(796-798)GTG>GTC p.V266V FAM83A_uc003ypw.2_Silent_p.V266V|FAM83A_uc003ypy.2_Silent_p.V210V|FAM83A_uc003ypx.2_Silent_p.V266V|FAM83A_uc003ypz.2_Silent_p.V266V NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 266 ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GCGGACACGTGCACCGGAACA 0.363 NA 7 9 0 0 0 0 KIAA0196 9897 broad.mit.edu 37 8 126091066 126091066 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr8:126091066C>T uc003yrt.2 - 6 954 c.625G>A c.(625-627)GAG>AAG p.E209K KIAA0196_uc011lir.1_Missense_Mutation_p.E61K NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 209 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AAATAGCTCTCGGGATAGTTG 0.423 NA 17 53 0 0 0 0 SPATC1 375686 broad.mit.edu 37 8 145101649 145101649 + Missense_Mutation SNP C C A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr8:145101649C>A uc011lkw.1 + 5 1670 c.1568C>A c.(1567-1569)GCG>GAG p.A523E SPATC1_uc011lkx.1_3'UTR NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 523 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGCACCCTGCGCTGACCGAG 0.642 NA 18 49 3.53e-06 4.2e-06 1 0 FAM75A6 389730 broad.mit.edu 37 9 43627258 43627258 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr9:43627258G>T uc011lrb.1 - 4 1458 c.1429C>A c.(1429-1431)CCC>ACC p.P477T NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 477 integral to membrane 0 GAAATAAAGGGTTGGCGGTGG 0.522 NA 9 534 0.00448238 0.00492025 1 0 CORO2A 7464 broad.mit.edu 37 9 100895440 100895440 + Silent SNP A A G rs143485689 TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr9:100895440A>G uc004ayl.2 - 5 794 c.528T>C c.(526-528)ATT>ATC p.I176I CORO2A_uc004aym.2_Silent_p.I176I NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 176 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) GGTGACAGCTAATCGTACTCA 0.542 NA 5 102 0 0 0 0 OR13D1 286365 broad.mit.edu 37 9 107457531 107457531 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr9:107457531T>A uc011lvs.1 + 1 829 c.829T>A c.(829-831)TCG>ACG p.S277T NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 277 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTCAGCGCACTCGATTGTGGT 0.388 NA 6 97 0 0 0 0 LPAR1 1902 broad.mit.edu 37 9 113704008 113704008 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr9:113704008C>T uc004bfa.2 - 4 741 c.486G>A c.(484-486)CGG>CGA p.R162R LPAR1_uc011lwm.1_Silent_p.R163R|LPAR1_uc004bfb.2_Silent_p.R162R|LPAR1_uc004bfc.2_Silent_p.R162R|LPAR1_uc011lwn.1_Silent_p.R144R|LPAR1_uc011lwo.1_Silent_p.R163R|LPAR1_uc010mub.2_Silent_p.R162R NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 162 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 CCACTACCCGCCGGTTGCTCA 0.512 NA 22 74 0 0 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139015 101139015 + Missense_Mutation SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chrX:101139015C>T uc004eim.2 - 2 4369 c.871G>A c.(871-873)GTG>ATG p.V291M ZMAT1_uc011mrl.1_Missense_Mutation_p.V462M|ZMAT1_uc004ein.2_Missense_Mutation_p.V291M|ZMAT1_uc011mrm.1_Missense_Mutation_p.V291M NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 291 nucleus zinc ion binding ovary(1) 1 TGGTTTTCCACTACTTGTGAA 0.413 NA 31 34 0 0 0 0 ACSL4 2182 broad.mit.edu 37 X 108902623 108902623 + Missense_Mutation SNP T T A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chrX:108902623T>A uc004eoi.2 - 16 2443 c.1938A>T c.(1936-1938)GAA>GAT p.E646D ACSL4_uc004eoj.2_Missense_Mutation_p.E605D|ACSL4_uc004eok.2_Missense_Mutation_p.E605D NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 646 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) GTATTTCAGCTTCCATAGCAG 0.393 NA 31 26 0 0 0 0 SMARCA1 6594 broad.mit.edu 37 X 128640093 128640093 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chrX:128640093G>A uc004eun.3 - 8 1175 c.1062C>T c.(1060-1062)CTC>CTT p.L354L SMARCA1_uc004eup.3_Silent_p.L354L|SMARCA1_uc011muk.1_Silent_p.L354L|SMARCA1_uc011mul.1_Silent_p.L354L NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 354 Helicase ATP-binding. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 ATAAAAAGTTGAGTAAGGCCC 0.373 NA 35 33 0 0 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16936196 16936196 + Missense_Mutation SNP G G T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chrY:16936196G>T uc004ftg.2 + 4 1006 c.754G>T c.(754-756)GGC>TGC p.G252C NLGN4Y_uc004fte.2_Missense_Mutation_p.G84C|NLGN4Y_uc011nas.1_Missense_Mutation_p.G272C|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.G252C NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 252 Extracellular (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 GACTATCTTTGGCTCGGGGGC 0.567 NA 5 56 3.6e-05 4.19e-05 1 0 DYRK1B 9149 broad.mit.edu 37 19 40321138 40321140 + In_Frame_Del DEL CTT CTT - TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr19:40321138_40321140delCTT uc002omj.2 - 4 527_529 c.247_249delAAG c.(247-249)AAGdel p.K83del DYRK1B_uc002omi.2_In_Frame_Del_p.K83del|DYRK1B_uc002omk.2_In_Frame_Del_p.K83del|DYRK1B_uc002oml.2_In_Frame_Del_p.K83del NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 83 Bipartite nuclear localization signal (Potential). positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CCTTCTTCTCCTTCTTGTTGCTC 0.581 NA 26 96 --- --- --- --- NA NA NA NA ITSN2 50618 broad.mit.edu 37 2 24498605 24498606 + Frame_Shift_Ins INS - - T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr2:24498605_24498606insT uc002rfe.2 - 18 2315_2316 c.2057_2058insA c.(2056-2058)AAGfs p.K686fs ITSN2_uc002rff.2_Frame_Shift_Ins_p.K659fs|ITSN2_uc002rfg.2_Frame_Shift_Ins_p.K686fs NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 686 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTCTAGTTTCTTTTTCTGCAT 0.327 NA 12 67 --- --- --- --- NA NA NA NA XBP1 7494 broad.mit.edu 37 22 29196498 29196499 + In_Frame_Ins INS - - GCC TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr22:29196498_29196499insGCC uc011akl.1 - 1 62_63 c.14_15insGGC c.(13-15)GCA>GCGGCA p.5_5A>AA XBP1_uc003aed.2_5'Flank|XBP1_uc003aef.2_5'UTR NM_001079539 NP_001073007 P17861 XBP1_HUMAN X-box binding protein 1 isoform XBP1(S) 5 immune response nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 TCGGCGCGGCTGCCACCACCAC 0.762 NA 3 3 --- --- --- --- NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137893473 137893474 + Frame_Shift_Ins INS - - GT TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr3:137893473_137893474insGT uc003erv.2 - 1 300_301 c.164_165insAC c.(163-165)CCGfs p.P55fs DBR1_uc003eru.2_Frame_Shift_Ins_p.P4fs NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 55 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 GATACTTGGGCGGCACGGCCAT 0.693 NA 9 18 --- --- --- --- NA NA NA NA ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Frame_Shift_Del DEL T T - TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr6:52883129delT uc003pbh.2 - 8 1152 c.662delA c.(661-663)AAGfs p.K221fs ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN intestinal cell kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1) 5 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 NA 8 476 --- --- --- --- NA NA NA NA ZNF782 158431 broad.mit.edu 37 9 99581247 99581247 + Frame_Shift_Del DEL A A - TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr9:99581247delA uc004awp.1 - 6 1339 c.1058delT c.(1057-1059)TTCfs p.F353fs ZNF782_uc011lup.1_Frame_Shift_Del_p.F221fs NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 353 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) ATGTACACTGAAAGTTGACTG 0.408 NA 93 62 --- --- --- --- NA NA NA NA RALGPS1 9649 broad.mit.edu 37 9 129958852 129958852 + Frame_Shift_Del DEL C C - TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08f56645-763e-4864-a145-c0136dacd4f5 225e74d6-d99d-46a6-8a4d-2a13df472d3b g.chr9:129958852delC uc004bqo.1 + 13 1404 c.1137delC c.(1135-1137)AGCfs p.S379fs RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 379 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 AGTCCCGCAGCCCCCGAAGGG 0.562 NA 19 101 --- --- --- --- NA NA NA NA