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 GLTPD1 80772 broad.mit.edu 37 1 1262354 1262354 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:1262354G>A uc001aeo.2 + 2 479 c.64G>A c.(64-66)GAT>AAT p.D22N CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank NM_001029885 NP_001025056 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 22 cytoplasm glycolipid binding|glycolipid transporter activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCAGTGTCTCGATGAGAAGGA 0.562 NA 17 71 0 0 0 0 ZCCHC17 51538 broad.mit.edu 37 1 31837035 31837035 + Missense_Mutation SNP G G C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:31837035G>C uc001bsp.1 + 8 857 c.721G>C c.(721-723)GAG>CAG p.E241Q ZCCHC17_uc001bsq.1_Missense_Mutation_p.E233Q|ZCCHC17_uc010ogf.1_Missense_Mutation_p.E243Q|ZCCHC17_uc009vtu.1_Missense_Mutation_p.E217Q|ZCCHC17_uc001bsr.1_Missense_Mutation_p.E241Q|ZCCHC17_uc009vtv.1_Missense_Mutation_p.E217Q NM_016505 NP_057589 Q9NP64 NO40_HUMAN zinc finger, CCHC domain containing 17 241 nucleolus RNA binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222) STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168) gaagcacaagGAGTGAGAGTA 0.383 NA 14 28 0 0 0 0 CSMD2 114784 broad.mit.edu 37 1 34082539 34082539 + Missense_Mutation SNP G G C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:34082539G>C uc001bxn.1 - 39 5892 c.5863C>G c.(5863-5865)CGG>GGG p.R1955G CSMD2_uc001bxm.1_Missense_Mutation_p.R1995G|CSMD2_uc001bxo.1_Missense_Mutation_p.R868G NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1955 Sushi 11.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTCCATCGCCGCACTGTTCCG 0.527 NA 17 88 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39792914 39792914 + Missense_Mutation SNP A A C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:39792914A>C uc010ois.1 + 37 4723 c.4518A>C c.(4516-4518)CAA>CAC p.Q1506H MACF1_uc001cda.1_Missense_Mutation_p.Q1414H|MACF1_uc001cdc.1_Missense_Mutation_p.Q593H|MACF1_uc001cdb.1_Missense_Mutation_p.Q593H NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) AGAAGAAACAAATATCTGAGC 0.393 NA 8 19 0 0 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43636551 43636551 + Splice_Site SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:43636551C>T uc001cin.2 - 4 521 c.324_splice c.e4-1 p.F108_splice EBNA1BP2_uc001cio.2_Splice_Site_p.F163_splice|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Splice_Site_p.F3_splice|EBNA1BP2_uc010ojx.1_Splice_Site_p.F163_splice NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTGGCGATAGCTGAGAATCGT 0.512 NA 45 88 0 0 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342296 94342296 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:94342296C>T uc001dqf.2 - 2 1233 c.1195G>A c.(1195-1197)GAT>AAT p.D399N DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.D194N NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TCTTCTTCATCATCACTACCA 0.403 NA 53 249 0 0 0 0 OVGP1 5016 broad.mit.edu 37 1 111969225 111969225 + Missense_Mutation SNP C C A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:111969225C>A uc001eba.2 - 3 150 c.94G>T c.(94-96)GCA>TCA p.A32S OVGP1_uc001eaz.2_5'UTR|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.A22S NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 32 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CGACTGTGTGCCCAGTTGGTG 0.532 NA 9 28 9.7e-10 1.23e-09 1 0 TRIM45 80263 broad.mit.edu 37 1 117663359 117663359 + Silent SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:117663359G>A uc001egz.2 - 1 1053 c.465C>T c.(463-465)TGC>TGT p.C155C TRIM45_uc009whe.2_Silent_p.C155C|TRIM45_uc001eha.2_Silent_p.C51C NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 155 B box-type 1. cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) AGCAGAAGTGGCAGAGGTTGG 0.542 NA 22 72 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152277569 152277569 + Missense_Mutation SNP C C T rs144217264 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:152277569C>T uc001ezu.1 - 3 9829 c.9793G>A c.(9793-9795)GGG>AGG p.G3265R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3265 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGAGTGCCCGTGACCGGCT 0.582 NA Ichthyosis 219 333 0 0 0 0 C1orf182 128229 broad.mit.edu 37 1 156314481 156314481 + Missense_Mutation SNP A A T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:156314481A>T uc001foo.2 + 3 507 c.145A>T c.(145-147)ACA>TCA p.T49S C1orf182_uc009wry.2_Missense_Mutation_p.T49S|C1orf182_uc001fop.3_Missense_Mutation_p.T49S NM_144627 NP_653228 Q96A04 CA182_HUMAN SSTK-interacting protein 49 0 Hepatocellular(266;0.158) GAACATCCAGACAACAAAGCT 0.507 NA 20 131 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175116091 175116091 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:175116091G>A uc001gkl.1 + 19 3897 c.3784G>A c.(3784-3786)GGA>AGA p.G1262R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1262 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCTTGGAAAGGACATGAATT 0.507 NA OREG0013992 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 58 0 0 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232626732 232626733 + Missense_Mutation DNP GG GG AT TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:232626732_232626733GG>AT uc001hvg.2 - 3 1851_1852 c.1693_1694CC>AT c.(1693-1695)CCT>ATT p.P565I NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 565 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTCTTTGAGAGGTAGTCCTCGT 0.47 NA 12 62 0 0 0 0 COL13A1 1305 broad.mit.edu 37 10 71677072 71677072 + Missense_Mutation SNP G G T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr10:71677072G>T uc001jpr.1 + 17 1515 c.979G>T c.(979-981)GGC>TGC p.G327C COL13A1_uc001jqj.1_Missense_Mutation_p.G327C|COL13A1_uc001jps.1_Missense_Mutation_p.G298C|COL13A1_uc001jpt.1_Missense_Mutation_p.G286C|COL13A1_uc001jpu.1_Missense_Mutation_p.G308C|COL13A1_uc001jpv.1_Missense_Mutation_p.G327C|COL13A1_uc001jpx.1_Missense_Mutation_p.G305C|COL13A1_uc001jpw.1_Missense_Mutation_p.G274C|COL13A1_uc001jpy.1_Missense_Mutation_p.G265C|COL13A1_uc001jpz.1_Missense_Mutation_p.G270C|COL13A1_uc001jqa.1_Missense_Mutation_p.G267C|COL13A1_uc001jqc.1_Missense_Mutation_p.G327C|COL13A1_uc001jqb.1_Missense_Mutation_p.G276C|COL13A1_uc001jql.2_Missense_Mutation_p.G327C|COL13A1_uc001jqd.1_Missense_Mutation_p.G315C|COL13A1_uc001jqe.1_Missense_Mutation_p.G310C|COL13A1_uc001jqf.1_Missense_Mutation_p.G308C|COL13A1_uc001jqg.1_Missense_Mutation_p.G305C|COL13A1_uc001jqh.1_Missense_Mutation_p.G327C|COL13A1_uc001jqi.1_Missense_Mutation_p.G327C|COL13A1_uc010qjf.1_Missense_Mutation_p.G117C|COL13A1_uc001jqk.1_Missense_Mutation_p.G165C NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 327 Extracellular (Potential).|Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) AGGGATGCCAGGCAAGCATGG 0.632 NA 11 22 2.27e-07 2.77e-07 1 0 FAM178A 55719 broad.mit.edu 37 10 102706839 102706839 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr10:102706839C>T uc001krt.3 + 14 3520 c.2978C>T c.(2977-2979)CCC>CTC p.P993L FAM178A_uc001krs.2_Missense_Mutation_p.P993L NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 993 0 TCCAGTCATCCCCACAACCTC 0.363 NA 26 85 0 0 0 0 PDZD7 79955 broad.mit.edu 37 10 102777943 102777943 + Missense_Mutation SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr10:102777943T>C uc001kso.1 - 9 1650 c.1435A>G c.(1435-1437)AGG>GGG p.R479G PDZD7_uc001ksn.2_Missense_Mutation_p.R479G NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 479 cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CGCGCTAGCCTCCCCTGCCGC 0.637 NA 21 60 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1264977 1264977 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:1264977C>T uc009ycr.1 + 48 8907 c.8781C>T c.(8779-8781)AGC>AGT p.S2927S MUC5B_uc001ltb.2_Silent_p.S2292S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2289 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACACCCAGCAAGACCCGCA 0.677 NA 22 95 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1268748 1268748 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:1268748C>T uc009ycr.1 + 50 12348 c.12222C>T c.(12220-12222)AGC>AGT p.S4074S MUC5B_uc001ltb.2_Silent_p.S3549S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3546 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACACCCAGCAAGACCCGCA 0.682 NA 5 187 0 0 0 0 TRIM5 85363 broad.mit.edu 37 11 5699621 5699621 + Missense_Mutation SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:5699621T>C uc001mbm.1 - 4 814 c.557A>G c.(556-558)GAG>GGG p.E186G TRIM5_uc001mbq.1_Missense_Mutation_p.E186G|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.E186G|TRIM5_uc001mbo.2_Missense_Mutation_p.E186G|TRIM5_uc001mbp.2_Missense_Mutation_p.E186G NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 186 Potential. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TCTCAGTTGCTCAAAATCTGC 0.468 NA 3 138 0 0 0 0 MS4A14 84689 broad.mit.edu 37 11 60183510 60183510 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:60183510C>T uc001npj.2 + 5 1634 c.1069C>T c.(1069-1071)CCT>TCT p.P357S MS4A14_uc001npi.2_Missense_Mutation_p.P245S|MS4A14_uc001npn.2_Missense_Mutation_p.P95S|MS4A14_uc001npk.2_Missense_Mutation_p.P340S|MS4A14_uc001npl.2_Missense_Mutation_p.P95S|MS4A14_uc001npm.2_Missense_Mutation_p.P95S NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 357 integral to membrane receptor activity breast(1) 1 TGACCTGCCCCCTCAAGGcat 0.254 NA 13 27 0 0 0 0 CFL1 1072 broad.mit.edu 37 11 65623524 65623524 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:65623524C>T uc001ofs.2 - 2 427 c.193G>A c.(193-195)GAC>AAC p.D65N CFL1_uc001oft.2_Missense_Mutation_p.D65N|CFL1_uc001ofu.2_3'UTR NM_005507 NP_005498 P23528 COF1_HUMAN cofilin 1 (non-muscle) 65 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding 0 READ - Rectum adenocarcinoma(159;0.169) TAGGGGTCGTCGACAGTCTGG 0.562 NA 51 71 0 0 0 0 SPTBN2 6712 broad.mit.edu 37 11 66454940 66454940 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:66454940C>T uc001ojd.2 - 34 6752 c.6680G>A c.(6679-6681)CGC>CAC p.R2227H SPTBN2_uc001ojc.1_Missense_Mutation_p.A88T NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2227 PH. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CTCCTGCTTGCGGCACAGCAT 0.642 NA 44 73 0 0 0 0 PPME1 51400 broad.mit.edu 37 11 73962725 73962725 + Silent SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:73962725G>A uc001ouw.2 + 13 1206 c.1107G>A c.(1105-1107)CGG>CGA p.R369R PPME1_uc009yty.2_Silent_p.R253R|PPME1_uc001oux.2_Silent_p.R182R|P4HA3_uc001ouy.3_Intron NM_016147 NP_057231 Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 369 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Breast(11;3.29e-05) TCCTGATCCGGCACAGGTTTG 0.522 NA 5 127 0 0 0 0 GRIA4 2893 broad.mit.edu 37 11 105758286 105758286 + Silent SNP C C A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:105758286C>A uc001pix.2 + 6 1160 c.714C>A c.(712-714)ATC>ATA p.I238I GRIA4_uc001piu.1_Silent_p.I238I|GRIA4_uc001piw.2_Silent_p.I238I|GRIA4_uc009yxk.1_Silent_p.I238I NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 238 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) ACCATTATATCATTGCAAACT 0.269 NA 6 61 0.000157383 0.000187078 1 0 OR8B12 219858 broad.mit.edu 37 11 124413461 124413461 + Missense_Mutation SNP A A T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:124413461A>T uc010sam.1 - 1 90 c.90T>A c.(88-90)TTT>TTA p.F30L NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) AGAAACCCAGAAACAGGAAGA 0.512 NA 22 72 0 0 0 0 OR6C4 341418 broad.mit.edu 37 12 55945874 55945874 + Silent SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr12:55945874T>C uc010spp.1 + 1 864 c.864T>C c.(862-864)TAT>TAC p.Y288Y NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTTCATATATACTTTAAGAA 0.333 NA 13 34 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81472045 81472045 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr12:81472045G>A uc001szl.1 + 1 237 c.146G>A c.(145-147)CGG>CAG p.R49Q ACSS3_uc001szm.1_Missense_Mutation_p.R49Q NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 49 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CTCGGGGGCCGGGGATGCAGG 0.731 NA 12 14 0 0 0 0 ANKLE2 23141 broad.mit.edu 37 12 133331319 133331319 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr12:133331319C>T uc001ukx.2 - 2 649 c.582G>A c.(580-582)AAG>AAA p.K194K ANKLE2_uc001uky.3_Silent_p.K132K NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 194 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GGGGCGGCTCCTTAGACGCAG 0.567 NA 17 58 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39265893 39265893 + Missense_Mutation SNP G G T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr13:39265893G>T uc001uwv.2 + 1 4721 c.4412G>T c.(4411-4413)TGC>TTC p.C1471F NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1471 Extracellular (Potential).|CSPG 10. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CACCTGGAATGCACGGATCAG 0.468 NA 13 39 0.00010058 0.000120466 1 0 TSC22D1 8848 broad.mit.edu 37 13 45149170 45149170 + Silent SNP A A G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr13:45149170A>G uc001uzn.3 - 1 1532 c.1041T>C c.(1039-1041)GCT>GCC p.A347A TSC22D1_uc001uzo.1_Silent_p.A347A NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 347 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CACTCACACCAGCAGCACTAG 0.413 NA 17 53 0 0 0 0 CHD8 57680 broad.mit.edu 37 14 21897487 21897487 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr14:21897487G>A uc001was.1 - 3 108 c.14C>T c.(13-15)TCG>TTG p.S5L CHD8_uc001war.1_5'UTR NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 284 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GATGCGTTTCGATTCACCCTA 0.438 NA 12 38 0 0 0 0 EXD2 55218 broad.mit.edu 37 14 69697274 69697274 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr14:69697274C>T uc001xkt.2 + 6 960 c.301C>T c.(301-303)CGT>TGT p.R101C EXD2_uc001xku.2_5'UTR|EXD2_uc001xkv.2_Missense_Mutation_p.R226C|EXD2_uc001xkw.2_Missense_Mutation_p.R101C|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Missense_Mutation_p.R226C|EXD2_uc010tte.1_Missense_Mutation_p.R226C|EXD2_uc001xky.2_Missense_Mutation_p.R101C NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 101 3'-5' exonuclease. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 CCTTCTACTTCGTTGCAGCAA 0.408 NA 16 81 0 0 0 0 COQ6 51004 broad.mit.edu 37 14 74426168 74426168 + Silent SNP A A C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr14:74426168A>C uc001xph.2 + 8 914 c.834A>C c.(832-834)GCA>GCC p.A278A ENTPD5_uc001xpi.2_3'UTR|COQ6_uc001xpe.2_Silent_p.A203A|COQ6_uc001xpf.2_Silent_p.A203A|COQ6_uc010tuk.1_Silent_p.A253A|COQ6_uc010tun.1_3'UTR|COQ6_uc001xpg.2_Silent_p.A278A NM_182476 NP_872282 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 homolog isoform a 278 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.00337) ATGAACATGCAGCAGAGCTAG 0.483 NA 18 110 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24922410 24922410 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr15:24922410C>T uc001ywo.2 + 1 1870 c.1396C>T c.(1396-1398)CCT>TCT p.P466S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 466 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCTGGCTCTTCCTGCTGACCT 0.498 NA 44 158 0 0 0 0 TMEM62 80021 broad.mit.edu 37 15 43446919 43446919 + Missense_Mutation SNP G G C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr15:43446919G>C uc001zqr.2 + 9 1351 c.1072G>C c.(1072-1074)GAT>CAT p.D358H TMEM62_uc010bda.2_Missense_Mutation_p.D228H NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 358 integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) AGTTAAGATTGATGGAGTTCA 0.388 NA 4 33 0 0 0 0 ACSM5 54988 broad.mit.edu 37 16 20442600 20442600 + Missense_Mutation SNP G G A rs144464842 by1000genomes TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr16:20442600G>A uc002dhe.2 + 10 1412 c.1265G>A c.(1264-1266)CGT>CAT p.R422H NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 422 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GTTGCCGTCCGTATCAGACCC 0.453 NA 36 214 0 0 0 0 SCNN1G 6340 broad.mit.edu 37 16 23221114 23221114 + Missense_Mutation SNP A A G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr16:23221114A>G uc002dlm.1 + 7 1260 c.1121A>G c.(1120-1122)GAG>GGG p.E374G NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 374 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CAGTGCACGGAGGACGGGAGT 0.617 NA 9 76 0 0 0 0 C16orf53 79447 broad.mit.edu 37 16 29828566 29828566 + Missense_Mutation SNP A A G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr16:29828566A>G uc002dug.3 + 2 837 c.518A>G c.(517-519)GAG>GGG p.E173G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_024516 NP_078792 Q9BTK6 PA1_HUMAN PTIP-associated 1 protein 173 0 TTTGATGATGAGCCAGTGACA 0.557 NA OREG0023722 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 42 0 0 0 0 DPEP1 1800 broad.mit.edu 37 16 89702704 89702704 + Silent SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr16:89702704G>A uc010cin.2 + 4 473 c.270G>A c.(268-270)CAG>CAA p.Q90Q DPEP1_uc002fnr.3_Silent_p.Q90Q|DPEP1_uc002fns.3_Silent_p.Q90Q NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 90 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) GCGACACCCAGAACAAAGACG 0.652 NA 9 24 0 0 0 0 SERPINF1 5176 broad.mit.edu 37 17 1675260 1675260 + Missense_Mutation SNP A A T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:1675260A>T uc002ftl.2 + 5 691 c.534A>T c.(532-534)CAA>CAT p.Q178H SERPINF1_uc010cjw.2_Translation_Start_Site NM_002615 NP_002606 P36955 PEDF_HUMAN serine (or cysteine) proteinase inhibitor, clade 178 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity ovary(1) 1 TGGACCTGCAAGAGATCAACA 0.552 NA 7 32 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:7577022G>A uc002gim.2 - 8 1110 c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTACCTCGCTTAGTGCTC 0.562 R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 83 19 0 0 0 0 PFAS 5198 broad.mit.edu 37 17 8167249 8167249 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:8167249C>T uc002gkr.2 + 15 1927 c.1786C>T c.(1786-1788)CGG>TGG p.R596W PFAS_uc010vuv.1_Missense_Mutation_p.R172W|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 596 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CACTGGAGACCGGAGAGTGAG 0.597 NA 8 78 0 0 0 0 AKAP10 11216 broad.mit.edu 37 17 19835125 19835125 + Missense_Mutation SNP G G A rs139003893 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:19835125G>A uc002gwo.2 - 10 1771 c.1634C>T c.(1633-1635)GCG>GTG p.A545V AKAP10_uc002gwp.1_Missense_Mutation_p.A545V|AKAP10_uc010cqw.1_Intron NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 545 blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TACCTGAGACGCAGAGCTGTC 0.483 NA 10 48 0 0 0 0 VTN 7448 broad.mit.edu 37 17 26694894 26694894 + Missense_Mutation SNP C C T rs150566083 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:26694894C>T uc002hbc.2 - 7 1315 c.1166G>A c.(1165-1167)CGC>CAC p.R389H SARM1_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SEBOX_uc010crk.1_5'UTR|SARM1_uc010waj.1_Intron NM_000638 NP_000629 P04004 VTNC_HUMAN vitronectin precursor 389 Heparin-binding. cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity ovary(1)|kidney(1) 2 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) GTTCTGGTTGCGGCCACGGCT 0.592 NA 12 30 0 0 0 0 PLXDC1 57125 broad.mit.edu 37 17 37265528 37265528 + Missense_Mutation SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:37265528T>C uc002hrg.2 - 3 584 c.372A>G c.(370-372)ATA>ATG p.I124M PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 124 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 TGTTGGAGAGTATTGTGTGGA 0.632 NA 14 33 0 0 0 0 RAMP2 10266 broad.mit.edu 37 17 40914816 40914816 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:40914816C>T uc002ibg.2 + 4 542 c.474C>T c.(472-474)CCC>CCT p.P158P LOC100190938_uc002ibd.1_5'Flank|LOC100190938_uc002ibe.3_5'Flank|LOC100190938_uc002ibf.3_5'Flank|RAMP2_uc010cyt.2_Silent_p.P163P|RAMP2_uc002ibh.2_3'UTR NM_005854 NP_005845 O60895 RAMP2_HUMAN receptor activity modifying protein 2 precursor 158 Helical; (Potential). intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway coated pit|integral to plasma membrane|lysosome protein transporter activity 0 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0741) Pramlintide(DB01278) GCCTCATCCCCTTCCTCATCA 0.567 NA 17 49 0 0 0 0 SOX9 6662 broad.mit.edu 37 17 70119789 70119789 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:70119789G>A uc002jiw.2 + 3 1163 c.791G>A c.(790-792)AGA>AAA p.R264K uc002jiv.2_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 264 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) GAGGGGGGCAGACAGCCCCCT 0.647 NA 25 99 0 0 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886722 9886722 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr18:9886722C>T uc002koi.3 + 2 695 c.246C>T c.(244-246)GCC>GCT p.A82A TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Silent_p.A15A NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 82 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 AGTCTGATGCCTCACAGGAGG 0.567 NA 23 81 0 0 0 0 MC2R 4158 broad.mit.edu 37 18 13885467 13885467 + Silent SNP A A G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr18:13885467A>G uc002ksp.1 - 2 228 c.51T>C c.(49-51)AAT>AAC p.N17N NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 17 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) AGTCGGAATTATTTCTTGCTG 0.433 NA 9 39 0 0 0 0 SERPINB10 5273 broad.mit.edu 37 18 61602211 61602211 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr18:61602211G>A uc010xev.1 + 8 1019 c.929G>A c.(928-930)GGG>GAG p.G310E SERPINB10_uc010xew.1_Missense_Mutation_p.G310E NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 310 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) AGCAGTATGGGGATGAGTGAT 0.438 NA 8 27 0 0 0 0 CCL25 6370 broad.mit.edu 37 19 8122704 8122704 + Missense_Mutation SNP G G C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr19:8122704G>C uc002mjd.2 + 4 345 c.345G>C c.(343-345)AAG>AAC p.K115N CCL25_uc002mjc.3_Missense_Mutation_p.K114N|CCL25_uc010dvy.1_Missense_Mutation_p.E71Q NM_005624 NP_005615 O15444 CCL25_HUMAN small inducible cytokine A25 precursor 115 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity 0 atgctgtaaagaagttgagtt 0 NA 11 27 0 0 0 0 KRI1 65095 broad.mit.edu 37 19 10675689 10675689 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr19:10675689G>A uc002moy.1 - 3 217 c.208C>T c.(208-210)CGG>TGG p.R70W KRI1_uc002mox.1_Missense_Mutation_p.R66W NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 70 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TAAAAGTCCCGCTCCTGCTGG 0.517 NA OREG0025239 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 39 0 0 0 0 FCHO1 23149 broad.mit.edu 37 19 17892312 17892312 + Missense_Mutation SNP T T A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr19:17892312T>A uc010ebb.2 + 21 1981 c.1792T>A c.(1792-1794)TTG>ATG p.L598M FCHO1_uc002nhg.3_Missense_Mutation_p.L598M|FCHO1_uc002nhh.2_Missense_Mutation_p.L598M|FCHO1_uc010xpw.1_Missense_Mutation_p.L548M|FCHO1_uc002nhi.2_Missense_Mutation_p.L54M|FCHO1_uc002nhj.2_Translation_Start_Site NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 598 breast(1) 1 CAGCACTGCCTTGGAACGGCC 0.622 NA 18 61 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40392569 40392569 + Silent SNP G G A rs142183229 byFrequency TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr19:40392569G>A uc002omp.3 - 16 7943 c.7935C>T c.(7933-7935)AGC>AGT p.S2645S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2645 VWFD 6. 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) GACACTCCTCGCTGGGGATAC 0.657 NA 16 50 0 0 0 0 VN1R1 57191 broad.mit.edu 37 19 57967606 57967606 + Silent SNP C C T rs143275734 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr19:57967606C>T uc002qos.1 - 1 249 c.249G>A c.(247-249)ACG>ACA p.T83T ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 83 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.T83R(1) ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) GAATCAAGTCCGTGGGTCTCA 0.423 NA 8 22 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11767141 11767141 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:11767141C>T uc002rbk.1 + 25 4660 c.4360C>T c.(4360-4362)CGG>TGG p.R1454W GREB1_uc002rbp.1_Missense_Mutation_p.R452W NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1454 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCAGACGGCACGGATGAGACT 0.572 NA 8 42 0 0 0 0 ATAD2B 54454 broad.mit.edu 37 2 24009046 24009046 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:24009046G>A uc002rek.3 - 21 3118 c.2824C>T c.(2824-2826)CGT>TGT p.R942C ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.R187C|ATAD2B_uc002rej.3_Missense_Mutation_p.R110C NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 942 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATAATTGACGAGGTGGAGAA 0.453 NA 3 8 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170055331 170055331 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:170055331C>T uc002ues.2 - 45 8756 c.8543G>A c.(8542-8544)TGT>TAT p.C2848Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2848 LDL-receptor class A 19.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTTATCTCCACAGTCATTGTC 0.378 NA 8 20 0 0 0 0 MYO3B 140469 broad.mit.edu 37 2 171055899 171055899 + Missense_Mutation SNP A A T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:171055899A>T uc002ufy.2 + 2 327 c.184A>T c.(184-186)AGT>TGT p.S62C MYO3B_uc002ufv.2_Missense_Mutation_p.S49C|MYO3B_uc010fqb.1_Missense_Mutation_p.S49C|MYO3B_uc002ufz.2_Missense_Mutation_p.S62C|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.S49C NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 62 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GGATCCAGTCAGTGTAAGTAA 0.363 NA 3 14 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179569648 179569648 + Missense_Mutation SNP C C G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:179569648C>G uc010zfg.1 - 101 26142 c.25918G>C c.(25918-25920)GAG>CAG p.E8640Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5301Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9567 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) ACAAGTTCCTCAAATTCCTTT 0.308 NA 33 95 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179595244 179595244 + Missense_Mutation SNP G G T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:179595244G>T uc010zfg.1 - 58 14508 c.14284C>A c.(14284-14286)CTG>ATG p.L4762M TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1423M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5689 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) TTGACTGTCAGATGCCCACTG 0.378 NA 29 86 1.22e-17 1.57e-17 1 0 ITGAV 3685 broad.mit.edu 37 2 187506226 187506226 + Missense_Mutation SNP A A T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:187506226A>T uc002upq.2 + 12 1346 c.1070A>T c.(1069-1071)CAG>CTG p.Q357L ITGAV_uc010frs.2_Missense_Mutation_p.Q321L|ITGAV_uc010zfv.1_Missense_Mutation_p.Q311L NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 357 FG-GAP 5.|Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GGAGACTTCCAGACGACAAAG 0.493 NA 52 141 0 0 0 0 DUSP28 285193 broad.mit.edu 37 2 241500794 241500794 + Missense_Mutation SNP G G T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:241500794G>T uc002vzg.2 + 2 1072 c.441G>T c.(439-441)TGG>TGT p.W147C ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.W147C NM_001033575 NP_001028747 Q4G0W2 DUS28_HUMAN dual specificity phosphatase 28 147 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311) CGGGCTTCTGGTCTCAGCTCC 0.602 NA 14 45 3.27e-08 4.08e-08 1 0 ITCH 83737 broad.mit.edu 37 20 33033215 33033215 + Silent SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr20:33033215T>C uc010geu.1 + 12 1404 c.1212T>C c.(1210-1212)CGT>CGC p.R404R ITCH_uc002xak.2_Silent_p.R363R|ITCH_uc010zuj.1_Silent_p.R253R NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 404 Required for interaction with FYN. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 AGCTACAGCGTAGTCAGCTTC 0.423 NA 27 55 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40790072 40790072 + Missense_Mutation SNP C C T rs61753667 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr20:40790072C>T uc002xkg.2 - 17 2786 c.2602G>A c.(2602-2604)GCC>ACC p.A868T PTPRT_uc010ggj.2_Missense_Mutation_p.A887T|PTPRT_uc010ggi.2_Missense_Mutation_p.A71T NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 868 Cytoplasmic (Potential). 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 skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACCCGGATGGCGGGTTGGAAC 0.622 NA 24 98 0 0 0 0 SLC12A5 57468 broad.mit.edu 37 20 44676660 44676660 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr20:44676660C>T uc010zxl.1 + 16 2093 c.2017C>T c.(2017-2019)CTC>TTC p.L673F SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.L650F NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 673 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGGTCTGTCTCTCAGTGCGGC 0.607 NA 5 35 0 0 0 0 CTCFL 140690 broad.mit.edu 37 20 56098320 56098320 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr20:56098320C>T uc010gix.1 - 2 1220 c.558G>A c.(556-558)CAG>CAA p.Q186Q CTCFL_uc010giw.1_Silent_p.Q186Q|CTCFL_uc002xym.2_Silent_p.Q186Q|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.Q186Q|CTCFL_uc010gjb.1_Silent_p.Q186Q|CTCFL_uc010gjc.1_Silent_p.Q186Q|CTCFL_uc010gjd.1_Silent_p.Q186Q|CTCFL_uc010gje.2_Silent_p.Q186Q|CTCFL_uc010gjf.2_5'UTR|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.Q186Q|CTCFL_uc010gji.1_5'UTR|CTCFL_uc010gjj.1_Silent_p.Q186Q|CTCFL_uc010gjk.1_Silent_p.Q186Q|CTCFL_uc010gjl.1_Silent_p.Q186Q NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 186 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GGTTCTTCTCCTGCTCTTCCT 0.353 NA 13 101 0 0 0 0 SLC16A8 23539 broad.mit.edu 37 22 38477107 38477107 + Missense_Mutation SNP G G T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr22:38477107G>T uc003auu.2 - 4 1068 c.938C>A c.(937-939)GCG>GAG p.A313E NM_013356 NP_037488 O95907 MOT3_HUMAN solute carrier family 16, member 8 313 Cytoplasmic (Potential). blood coagulation|leukocyte migration|pyruvate metabolic process integral to plasma membrane|membrane fraction lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity 0 Melanoma(58;0.045) Pyruvic acid(DB00119) CCGCAGACGCGCCAGGCCCGC 0.741 NA 4 8 2.56e-06 3.1e-06 1 0 PHF21B 112885 broad.mit.edu 37 22 45289390 45289390 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr22:45289390G>A uc003bfn.2 - 7 1058 c.907C>T c.(907-909)CGG>TGG p.R303W PHF21B_uc003bfm.2_Missense_Mutation_p.R99W|PHF21B_uc011aqk.1_Missense_Mutation_p.R249W|PHF21B_uc011aql.1_Missense_Mutation_p.R261W|PHF21B_uc011aqm.1_Missense_Mutation_p.R249W NM_138415 NP_612424 Q96EK2 PF21B_HUMAN PHD finger protein 21B isoform 1 303 zinc ion binding ovary(2)|skin(1) 3 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CTTCTCTTCCGCTCCTGTCGC 0.632 NA 4 8 0 0 0 0 DPPA2 151871 broad.mit.edu 37 3 109027049 109027049 + Missense_Mutation SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr3:109027049T>C uc003dxo.2 - 6 735 c.488A>G c.(487-489)TAT>TGT p.Y163C NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 163 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 ATTCATCTCATAACTTCTCTG 0.468 NA 19 71 0 0 0 0 WDR49 151790 broad.mit.edu 37 3 167223119 167223119 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr3:167223119C>T uc003fev.1 - 13 2110 c.1804G>A c.(1804-1806)GGT>AGT p.G602S WDR49_uc003feu.1_Missense_Mutation_p.G427S|WDR49_uc011bpd.1_Missense_Mutation_p.G567S|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 602 large_intestine(1)|ovary(1)|skin(1) 3 ATAACTTCACCATAATAAGGT 0.259 NA 4 24 0 0 0 0 KIAA1530 57654 broad.mit.edu 37 4 1360207 1360207 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr4:1360207C>T uc003gde.3 + 8 1723 c.1276C>T c.(1276-1278)CGG>TGG p.R426W KIAA1530_uc010ibv.2_5'UTR NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 426 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) CGACCACTTGCGGCCTGAGTA 0.642 NA 57 156 0 0 0 0 HTT 3064 broad.mit.edu 37 4 3131671 3131672 + Missense_Mutation DNP CC CC AG TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr4:3131671_3131672CC>AG uc011bvq.1 + 14 1915_1916 c.1770_1771CC>AG c.(1768-1773)AACCAG>AAAGAG p.590_591NQ>KE NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 588_589 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTACCGACAACCAGTATTTGGG 0.505 NA 11 145 0 0 0 0 SORCS2 57537 broad.mit.edu 37 4 7735048 7735048 + Splice_Site SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr4:7735048G>A uc003gkb.3 + 24 3109 c.3109_splice c.e24-1 p.R1037_splice SORCS2_uc011bwi.1_Splice_Site_p.R865_splice NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 TGTGCTTGCAGAGGCTCGCCG 0.652 NA 2 2 0 0 0 0 ZNF827 152485 broad.mit.edu 37 4 146824264 146824264 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr4:146824264C>T uc003ikn.2 - 2 195 c.147G>A c.(145-147)CAG>CAA p.Q49Q ZNF827_uc003ikm.2_Silent_p.Q49Q|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TATAGTTCTCCTGGACTTCCC 0.562 NA 29 78 0 0 0 0 MYO10 4651 broad.mit.edu 37 5 16701457 16701457 + Nonsense_Mutation SNP G G C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr5:16701457G>C uc003jft.3 - 25 3515 c.3047C>G c.(3046-3048)TCA>TGA p.S1016* MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Nonsense_Mutation_p.S373*|MYO10_uc011cne.1_Nonsense_Mutation_p.S373*|MYO10_uc010itx.2_Nonsense_Mutation_p.S639* NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1016 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TCGCTGGTCTGAGTGGCCGTG 0.627 NA 13 34 0 0 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834432 101834432 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr5:101834432C>T uc003knn.2 - 1 289 c.117G>A c.(115-117)CCG>CCA p.P39P SLCO6A1_uc003kno.2_Silent_p.P39P|SLCO6A1_uc003knp.2_Silent_p.P39P|SLCO6A1_uc003knq.2_Silent_p.P39P NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 39 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TCGAGGACTTCGGGGTTCCCT 0.592 NA 104 57 0 0 0 0 IL9 3578 broad.mit.edu 37 5 135231263 135231263 + Missense_Mutation SNP T T G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr5:135231263T>G uc003lbb.1 - 2 142 c.131A>C c.(130-132)AAG>ACG p.K44T NM_000590 NP_000581 P15248 IL9_HUMAN interleukin 9 precursor 44 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAGTGGCACTTGGAAGCTGG 0.378 NA 18 79 0 0 0 0 GRIA1 2890 broad.mit.edu 37 5 153026582 153026582 + Silent SNP C C T rs138090704 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr5:153026582C>T uc003lva.3 + 3 680 c.315C>T c.(313-315)CAC>CAT p.H105H GRIA1_uc003luy.3_Silent_p.H105H|GRIA1_uc003luz.3_Silent_p.H10H|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Silent_p.H36H|GRIA1_uc011dcy.1_Silent_p.H115H|GRIA1_uc011dcz.1_Silent_p.H115H|GRIA1_uc010jia.1_Silent_p.H85H NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 105 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGGCCCTCCACGTCTGCTTCA 0.502 NA 47 55 0 0 0 0 IL12B 3593 broad.mit.edu 37 5 158749490 158749490 + Missense_Mutation SNP C C T rs139186048 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr5:158749490C>T uc003lxr.1 - 4 436 c.394G>A c.(394-396)GAG>AAG p.E132K NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 132 cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTTGGCCTCGCATCTTAGA 0.378 NA 14 40 0 0 0 0 UNC5A 90249 broad.mit.edu 37 5 176301345 176301345 + Missense_Mutation SNP G G T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr5:176301345G>T uc003mey.2 + 8 1348 c.1156G>T c.(1156-1158)GAT>TAT p.D386Y UNC5A_uc010jkg.1_Missense_Mutation_p.D346Y NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 386 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCCCGGCAGGATGGGCCCAG 0.647 NA 39 158 1.36e-19 1.76e-19 1 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033684 26033685 + Missense_Mutation DNP CC CC AA TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr6:26033684_26033685CC>AA uc003nft.1 - 1 112_113 c.112_113GG>TT c.(112-114)GGC>TTC p.G38F HIST1H3B_uc003nfs.1_5'Flank NM_003513 NP_003504 P04908 H2A1B_HUMAN histone cluster 1, H2ab 38 GN -> AH (in Ref. 1; CAA24951). nucleosome assembly nucleosome|nucleus DNA binding 0 GGAGTAGTTGCCTTTGCGGAGC 0.653 NA 14 93 0 0 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107126 27107126 + Missense_Mutation SNP A A C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr6:27107126A>C uc003niy.1 + 1 39 c.39A>C c.(37-39)AAA>AAC p.K13N HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 13 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 GCCTGGGGAAAGGGGGTGCCA 0.597 NA T BCL6 NHL 19 51 0 0 0 0 HLA-B 3106 broad.mit.edu 37 6 31323330 31323330 + Missense_Mutation SNP T T G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr6:31323330T>G uc003nth.2 - 4 713 c.659A>C c.(658-660)GAC>GCC p.D220A HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.D99A|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 220 Alpha-3.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 GGCCTCATGGTCAGAGATGGG 0.582 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of 27 175 0 0 0 0 AGPAT1 10554 broad.mit.edu 37 6 32138309 32138309 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr6:32138309C>T uc003oae.2 - 4 721 c.403G>A c.(403-405)GCC>ACC p.A135T PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.A99T|AGPAT1_uc003oaf.2_Missense_Mutation_p.A135T|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Missense_Mutation_p.A135T|AGPAT1_uc003oai.1_Missense_Mutation_p.A135T|AGPAT1_uc011dpl.1_Missense_Mutation_p.A23T NM_006411 NP_006402 Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 135 Helical; (Potential). energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1) 1 GCCAGCCCGGCAGAGCCAGCC 0.652 NA 15 107 0 0 0 0 AGER 177 broad.mit.edu 37 6 32150719 32150720 + Missense_Mutation DNP GC GC TT TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr6:32150719_32150720GC>TT uc003oal.1 - 6 613_614 c.589_590GC>AA c.(589-591)GCC>AAC p.A197N AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.A96N|AGER_uc011dpm.1_Missense_Mutation_p.A96N|AGER_uc011dpn.1_Missense_Mutation_p.A96N|AGER_uc010jtv.1_Missense_Mutation_p.A197N|AGER_uc011dpo.1_Missense_Mutation_p.A110N|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.A183N|AGER_uc003oap.1_Missense_Mutation_p.A213N|AGER_uc003oat.1_Missense_Mutation_p.A213N|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.A183N|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.A197N|AGER_uc003oau.1_Missense_Mutation_p.A197N|AGER_uc011dpp.1_Missense_Mutation_p.A197N|AGER_uc011dpq.1_Missense_Mutation_p.A213N NM_001136 NP_001127 Q15109 RAGE_HUMAN advanced glycosylation end product-specific 197 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1) 1 TCCTCCCCGGGCTGGGGTCACC 0.619 NA 11 94 0 0 0 0 AGER 177 broad.mit.edu 37 6 32150723 32150723 + Missense_Mutation SNP G G C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr6:32150723G>C uc003oal.1 - 6 610 c.586C>G c.(586-588)CCA>GCA p.P196A AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.P95A|AGER_uc011dpm.1_Missense_Mutation_p.P95A|AGER_uc011dpn.1_Missense_Mutation_p.P95A|AGER_uc010jtv.1_Missense_Mutation_p.P196A|AGER_uc011dpo.1_Missense_Mutation_p.P109A|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.P182A|AGER_uc003oap.1_Missense_Mutation_p.P212A|AGER_uc003oat.1_Missense_Mutation_p.P212A|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.P182A|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.P196A|AGER_uc003oau.1_Missense_Mutation_p.P196A|AGER_uc011dpp.1_Missense_Mutation_p.P196A|AGER_uc011dpq.1_Missense_Mutation_p.P212A NM_001136 NP_001127 Q15109 RAGE_HUMAN advanced glycosylation end product-specific 196 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1) 1 CCCCGGGCTGGGGTCACCATT 0.607 NA 10 94 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112537594 112537594 + Missense_Mutation SNP C C A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr6:112537594C>A uc003pvu.2 - 3 581 c.272G>T c.(271-273)TGT>TTT p.C91F LAMA4_uc003pvv.2_Missense_Mutation_p.C91F|LAMA4_uc003pvt.2_Missense_Mutation_p.C91F|LAMA4_uc003pvw.2_Missense_Mutation_p.C91F NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 91 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GCCGTCCAAACACTCGTTGGA 0.458 NA 8 56 7.48e-07 9.1e-07 1 0 RFX6 222546 broad.mit.edu 37 6 117250042 117250042 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr6:117250042C>T uc003pxm.2 + 18 2582 c.2519C>T c.(2518-2520)CCA>CTA p.P840L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 840 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 ATCCACGATCCACTTAACATT 0.463 NA 24 99 0 0 0 0 GPER 2852 broad.mit.edu 37 7 1132135 1132135 + Silent SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr7:1132135G>A uc010ksd.1 + 2 1160 c.771G>A c.(769-771)GCG>GCA p.A257A C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.A257A|GPER_uc003ska.1_Silent_p.A257A|GPER_uc003skb.2_Silent_p.A257A NM_001098201 NP_001091671 Q99527 GPER_HUMAN G protein-coupled receptor 30 257 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) GGCAGAAGGCGCTCCGCATGA 0.682 NA 26 59 0 0 0 0 FKBP14 55033 broad.mit.edu 37 7 30058665 30058665 + Nonsense_Mutation SNP C C A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr7:30058665C>A uc003tal.1 - 3 568 c.424G>T c.(424-426)GAA>TAA p.E142* FKBP14_uc010kvq.1_RNA NM_017946 NP_060416 Q9NWM8 FKB14_HUMAN FK506 binding protein 14 precursor 142 EF-hand 1. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 TGGAATGATTCATGGGATCTT 0.393 NA 15 69 6.32e-08 7.83e-08 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94827740 94827740 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr7:94827740C>T uc003unp.2 + 6 2116 c.1834C>T c.(1834-1836)CGC>TGC p.R612C PPP1R9A_uc010lfj.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.1_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.1_Missense_Mutation_p.R612C NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 612 Potential.|Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) ACAGGAGAGGCGCCAGAGAGA 0.448 NA HNSCC(28;0.073) 23 126 0 0 0 0 TFR2 7036 broad.mit.edu 37 7 100238307 100238307 + Splice_Site SNP A A G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr7:100238307A>G uc003uvv.1 - 3 514 c.473_splice c.e3+1 p.R158_splice TFR2_uc003uvw.1_Nonstop_Mutation_p.*159Q NM_003227 NP_003218 Q9UP52 TFR2_HUMAN transferrin receptor 2 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity ovary(1)|pancreas(1) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGCCATCCCTACCTGATGGTG 0.657 NA 5 17 0 0 0 0 TNPO3 23534 broad.mit.edu 37 7 128640537 128640537 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr7:128640537C>T uc003vol.1 - 7 1331 c.957G>A c.(955-957)GGG>GGA p.G319G TNPO3_uc003vom.1_Silent_p.G253G|TNPO3_uc010lly.1_Silent_p.G319G|TNPO3_uc010llz.1_Silent_p.G319G NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 319 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 TTCGAAGGTCCCCAAGACCTT 0.433 NA 16 76 0 0 0 0 ZNF425 155054 broad.mit.edu 37 7 148802572 148802572 + Missense_Mutation SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr7:148802572T>C uc003wfj.2 - 4 464 c.391A>G c.(391-393)AAA>GAA p.K131E NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 131 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TTTCTCTCTTTCCCTCGTAAG 0.428 NA 3 84 0 0 0 0 LYN 4067 broad.mit.edu 37 8 56860268 56860268 + Missense_Mutation SNP G G A rs149135061 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr8:56860268G>A uc003xsk.3 + 4 552 c.270G>A c.(268-270)ATG>ATA p.M90I LYN_uc003xsl.3_Missense_Mutation_p.M69I NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 90 SH3. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) GAGAGAAGATGAAAGTCCTGG 0.527 NA 20 101 0 0 0 0 MRPS28 28957 broad.mit.edu 37 8 80915385 80915385 + Missense_Mutation SNP A A G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr8:80915385A>G uc003ybp.2 - 2 267 c.244T>C c.(244-246)TCT>CCT p.S82P MRPS28_uc003ybo.2_5'UTR|TPD52_uc010lzr.2_RNA NM_014018 NP_054737 Q9Y2Q9 RT28_HUMAN mitochondrial ribosomal protein S28 82 mitochondrial small ribosomal subunit 0 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) CTCAGCATAGATGCAAAGGAT 0.338 NA 8 37 0 0 0 0 SLC26A7 115111 broad.mit.edu 37 8 92352728 92352728 + Silent SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr8:92352728T>C uc003yex.2 + 9 1253 c.975T>C c.(973-975)GCT>GCC p.A325A SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.A325A|SLC26A7_uc003yfa.2_Silent_p.A325A NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 325 Helical; (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) CCTCACTGGCTCTTGCTCAAG 0.502 NA 21 106 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113249437 113249437 + Missense_Mutation SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr8:113249437T>C uc003ynu.2 - 67 10768 c.10609A>G c.(10609-10611)ATG>GTG p.M3537V CSMD3_uc003yns.2_Missense_Mutation_p.M2739V|CSMD3_uc003ynt.2_Missense_Mutation_p.M3497V|CSMD3_uc011lhx.1_Missense_Mutation_p.M3368V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3537 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGCAGCTCCATGTTGCTATTG 0.358 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 126 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113347673 113347673 + Silent SNP G G A rs142588028 TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr8:113347673G>A uc003ynu.2 - 45 7209 c.7050C>T c.(7048-7050)ATC>ATT p.I2350I CSMD3_uc003yns.2_Silent_p.I1552I|CSMD3_uc003ynt.2_Silent_p.I2310I|CSMD3_uc011lhx.1_Silent_p.I2246I|CSMD3_uc003ynw.1_Silent_p.I61I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2350 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGAACTGACCGATCTGAGGTG 0.403 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 13 0 0 0 0 PCSK5 5125 broad.mit.edu 37 9 78796390 78796390 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr9:78796390G>A uc004ajz.2 + 16 2618 c.2080G>A c.(2080-2082)GAG>AAG p.E694K PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_5'UTR NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 694 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 CCCCAACTGTGAGTCCTGCTT 0.517 NA 15 49 0 0 0 0 CRB2 286204 broad.mit.edu 37 9 126125359 126125359 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr9:126125359C>T uc004bnx.1 + 2 402 c.310C>T c.(310-312)CGC>TGC p.R104C CRB2_uc004bnw.1_Missense_Mutation_p.R104C NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 104 Extracellular (Potential).|EGF-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CCAGGGCCCACGCTGCGAGCT 0.682 NA 8 39 0 0 0 0 FAM102A 399665 broad.mit.edu 37 9 130712724 130712724 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr9:130712724C>T uc004bsx.1 - 4 471 c.392G>A c.(391-393)CGC>CAC p.R131H FAM102A_uc004bsw.1_5'UTR|FAM102A_uc004bsy.1_5'Flank NM_001035254 NP_001030331 Q5T9C2 F102A_HUMAN early estrogen-induced gene 1 protein isoform a 131 ovary(1) 1 GTTGTCCTGGCGAGTGTTCTT 0.602 NA 19 102 0 0 0 0 PHKA2 5256 broad.mit.edu 37 X 18949759 18949759 + Missense_Mutation SNP C C A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:18949759C>A uc004cyv.3 - 12 1675 c.1245G>T c.(1243-1245)GAG>GAT p.E415D NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 415 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) AAGCCCCTACCTCTGCCAACA 0.552 NA OREG0019698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 130 2.71e-09 3.41e-09 1 0 SYTL5 94122 broad.mit.edu 37 X 37984588 37984588 + Missense_Mutation SNP A A G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:37984588A>G uc004ddu.2 + 17 2413 c.1879A>G c.(1879-1881)AAA>GAA p.K627E SYTL5_uc004ddv.2_Missense_Mutation_p.K627E|SYTL5_uc004ddx.2_Missense_Mutation_p.K649E NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 627 C2 2. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 CACCAAGCACAAAACTCTGGT 0.403 NA 10 24 0 0 0 0 AKAP4 8852 broad.mit.edu 37 X 49957377 49957377 + Missense_Mutation SNP C C A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:49957377C>A uc004dow.1 - 5 2111 c.1987G>T c.(1987-1989)GCA>TCA p.A663S AKAP4_uc004dov.1_Missense_Mutation_p.A280S|AKAP4_uc010njp.1_Missense_Mutation_p.A485S|AKAP4_uc004dou.1_Missense_Mutation_p.A654S NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 663 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) ATGGAAGCTGCTTTGCTTGCC 0.478 NA 11 47 3.86e-05 4.64e-05 1 0 TRO 7216 broad.mit.edu 37 X 54955308 54955308 + Silent SNP C C A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:54955308C>A uc004dtq.2 + 12 2258 c.2151C>A c.(2149-2151)GCC>GCA p.A717A TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.A248A|TRO_uc004dtw.2_Silent_p.A320A|TRO_uc004dtx.2_Silent_p.A100A NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 717 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 ATGCAGATGCCAGCACCAACG 0.512 NA 21 33 1.02e-10 1.3e-10 1 0 ZXDB 158586 broad.mit.edu 37 X 57619372 57619372 + Silent SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:57619372C>T uc004dvd.2 + 1 1104 c.891C>T c.(889-891)AGC>AGT p.S297S NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 297 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 CGCACAGCAGCAGCCAGGGCC 0.642 NA 4 12 0 0 0 0 ZXDA 7789 broad.mit.edu 37 X 57936696 57936696 + Silent SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:57936696G>A uc004dve.2 - 1 372 c.159C>T c.(157-159)GGC>GGT p.G53G NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 53 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 gcccgggcccgccATCTTGGG 0.677 NA 7 12 0 0 0 0 MAGT1 84061 broad.mit.edu 37 X 77112872 77112872 + Silent SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:77112872G>A uc004fof.2 - 4 671 c.609C>T c.(607-609)GCC>GCT p.A203A MAGT1_uc004fog.3_Intron NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 171 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 CAGTTCTGTCGGCGATCCACC 0.468 NA 63 153 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79978124 79978124 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:79978124C>T uc004edt.2 - 17 2076 c.1813G>A c.(1813-1815)GTA>ATA p.V605I BRWD3_uc010nmi.1_5'Flank|BRWD3_uc004edo.2_Missense_Mutation_p.V201I|BRWD3_uc004edp.2_Missense_Mutation_p.V434I|BRWD3_uc004edq.2_Missense_Mutation_p.V201I|BRWD3_uc010nmj.1_Missense_Mutation_p.V201I|BRWD3_uc004edr.2_Missense_Mutation_p.V275I|BRWD3_uc004eds.2_Missense_Mutation_p.V201I|BRWD3_uc004edu.2_Missense_Mutation_p.V275I|BRWD3_uc004edv.2_Missense_Mutation_p.V201I|BRWD3_uc004edw.2_Missense_Mutation_p.V201I|BRWD3_uc004edx.2_Missense_Mutation_p.V201I|BRWD3_uc004edy.2_Missense_Mutation_p.V201I|BRWD3_uc004edz.2_Missense_Mutation_p.V275I|BRWD3_uc004eea.2_Missense_Mutation_p.V275I|BRWD3_uc004eeb.2_Missense_Mutation_p.V201I NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 605 ovary(4) 4 CGTCCTGGTACCAACCGTTGG 0.403 NA 4 33 0 0 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931661 102931661 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:102931661G>A uc004ekw.2 - 4 1527 c.295C>T c.(295-297)CGG>TGG p.R99W MORF4L2_uc004ela.2_Missense_Mutation_p.R99W|MORF4L2_uc004ekx.2_Missense_Mutation_p.R99W|MORF4L2_uc004elb.2_Missense_Mutation_p.R99W|MORF4L2_uc004eky.2_Missense_Mutation_p.R99W|MORF4L2_uc010nos.2_Missense_Mutation_p.R99W|MORF4L2_uc004ekz.2_Missense_Mutation_p.R99W|MORF4L2_uc011mry.1_Missense_Mutation_p.R99W|MORF4L2_uc011mrz.1_Missense_Mutation_p.R99W|MORF4L2_uc004elc.2_Missense_Mutation_p.R99W|MORF4L2_uc004elf.2_Missense_Mutation_p.R99W|MORF4L2_uc004ele.2_Missense_Mutation_p.R99W|MORF4L2_uc011msa.1_Missense_Mutation_p.R99W|MORF4L2_uc011msb.1_Missense_Mutation_p.R99W|MORF4L2_uc011msc.1_Missense_Mutation_p.R99W|MORF4L2_uc011msd.1_Missense_Mutation_p.R99W|MORF4L2_uc004eld.2_Missense_Mutation_p.R99W NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 99 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 CTTTTCTTCCGAGGGGGCTGA 0.512 NA 34 134 0 0 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686191 125686191 + Missense_Mutation SNP G G C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chrX:125686191G>C uc004eul.2 - 1 652 c.401C>G c.(400-402)CCC>CGC p.P134R NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 134 skin(3)|ovary(1) 4 CCGCAAGAGGGGAATGCGCGC 0.632 NA 17 72 0 0 0 0 SLC2A1 6513 broad.mit.edu 37 1 43395563 43395564 + Frame_Shift_Ins INS - - TCGT TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:43395563_43395564insTCGT uc001cik.2 - 5 1184_1185 c.659_660insACGA c.(658-660)GAGfs p.E220fs NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 220 Cytoplasmic (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CCCGGTTCTCCTCGTTGCGGTT 0.653 NA 21 134 --- --- --- --- NA NA NA NA STIL 6491 broad.mit.edu 37 1 47726187 47726202 + Frame_Shift_Del DEL TATTTAATAGGTGGTT TATTTAATAGGTGGTT - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr1:47726187_47726202delTATTTAATAGGTGGTT uc001crc.1 - 16 2991_3006 c.2836_2851delAACCACCTATTAAATA c.(2836-2853)AACCACCTATTAAATAGTfs p.N946fs TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.N900fs|STIL_uc010omo.1_Frame_Shift_Del_p.N929fs|STIL_uc001crd.1_Frame_Shift_Del_p.N947fs|STIL_uc001cre.1_Frame_Shift_Del_p.N946fs|STIL_uc001crf.1_Frame_Shift_Del_p.N559fs|STIL_uc001crg.1_Frame_Shift_Del_p.N882fs NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 946_951 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TTGGAGGAACTATTTAATAGGTGGTTTACTTGACCC 0.273 NA 26 120 --- --- --- --- NA NA NA NA DNHD1 144132 broad.mit.edu 37 11 6588483 6588483 + Frame_Shift_Del DEL C C - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr11:6588483delC uc001mdw.3 + 36 12308 c.11744delC c.(11743-11745)ACCfs p.T3915fs DNHD1_uc001mea.3_Frame_Shift_Del_p.T184fs|DNHD1_uc001meb.2_Frame_Shift_Del_p.T183fs|DNHD1_uc001mec.2_Frame_Shift_Del_p.T183fs|DNHD1_uc010rao.1_Frame_Shift_Del_p.T173fs|DNHD1_uc009yfg.2_5'Flank NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 3915 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCACACCTGACCCGCCAGCTG 0.587 NA 23 137 --- --- --- --- NA NA NA NA OR4M1 441670 broad.mit.edu 37 14 20249046 20249046 + Frame_Shift_Del DEL T T - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr14:20249046delT uc010tku.1 + 1 565 c.565delT c.(565-567)TGTfs p.C189fs NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCGGATTGCCTGTGCCAACAC 0.458 NA 37 271 --- --- --- --- NA NA NA NA OTX2 5015 broad.mit.edu 37 14 57268457 57268457 + Frame_Shift_Del DEL A A - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr14:57268457delA uc001xcp.2 - 3 1037 c.866delT c.(865-867)TTGfs p.L289fs OTX2_uc010aou.2_Frame_Shift_Del_p.L289fs|OTX2_uc001xcq.2_Frame_Shift_Del_p.L297fs NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 289 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) AGGTCTTCACAAAACCTGGAA 0.408 NA 14 73 --- --- --- --- NA NA NA NA MMP15 4324 broad.mit.edu 37 16 58077474 58077475 + Frame_Shift_Ins INS - - G TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr16:58077474_58077475insG uc002ena.2 + 9 2486_2487 c.1513_1514insG c.(1513-1515)AGTfs p.S505fs NM_002428 NP_002419 P51511 MMP15_HUMAN matrix metalloproteinase 15 preproprotein 505 Hemopexin-like 3.|Extracellular (Potential). protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding central_nervous_system(2)|breast(1) 3 CAAGCCCATCAGTGTCTGGCAG 0.599 NA 11 39 --- --- --- --- NA NA NA NA PIP4K2B 8396 broad.mit.edu 37 17 36927448 36927450 + In_Frame_Del DEL CTC CTC - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr17:36927448_36927450delCTC uc002hqs.2 - 8 1364_1366 c.883_885delGAG c.(883-885)GAGdel p.E295del PIP4K2B_uc010cvp.2_5'Flank NM_003559 NP_003550 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 295 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity ovary(1) 1 ccacctccatctcctcctgctcT 0.448 NA 8 40 --- --- --- --- NA NA NA NA CLEC4F 165530 broad.mit.edu 37 2 71044191 71044202 + In_Frame_Del DEL TAAATGTCTGGA TAAATGTCTGGA - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr2:71044191_71044202delTAAATGTCTGGA uc002shf.2 - 4 388_399 c.311_322delTCCAGACATTTA c.(310-324)ATCCAGACATTTAAA>AAA p.IQTF104del CLEC4F_uc010yqv.1_In_Frame_Del_p.IQTF104del NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 104_107 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 ATGTGGCCTTTAAATGTCTGGATAAGCTCTCG 0.491 NA 7 51 --- --- --- --- NA NA NA NA PXMP4 11264 broad.mit.edu 37 20 32307907 32307911 + Frame_Shift_Del DEL CCGTT CCGTT - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr20:32307907_32307911delCCGTT uc002wzv.2 - 1 226_230 c.103_107delAACGG c.(103-108)AACGGGfs p.N35fs PXMP4_uc002wzw.2_Frame_Shift_Del_p.N35fs|PXMP4_uc010zuh.1_Frame_Shift_Del_p.N35fs NM_007238 NP_009169 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4 isoform a 35_36 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity 0 TCACACAGCCCCGTTCCGGAAGCCC 0.688 NA 14 92 --- --- --- --- NA NA NA NA NRIP1 8204 broad.mit.edu 37 21 16337046 16337049 + Frame_Shift_Del DEL TTCT TTCT - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr21:16337046_16337049delTTCT uc002yjx.2 - 4 4063_4066 c.3465_3468delAGAA c.(3463-3468)AAAGAAfs p.K1155fs NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 1155_1156 Repression domain 4. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TTTATTCTGATTCTTTCTTTATCG 0.373 NA 23 58 --- --- --- --- NA NA NA NA C6 729 broad.mit.edu 37 5 41159257 41159257 + Frame_Shift_Del DEL G G - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr5:41159257delG uc003jmk.2 - 12 1993 c.1783delC c.(1783-1785)CAAfs p.Q595fs C6_uc003jml.1_Frame_Shift_Del_p.Q595fs NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 595 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCTCCTCGTTGGGGGGCAGGA 0.498 NA 22 114 --- --- --- --- NA NA NA NA KDM3B 51780 broad.mit.edu 37 5 137727094 137727097 + Frame_Shift_Del DEL GAAA GAAA - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr5:137727094_137727097delGAAA uc003lcy.1 + 8 1973_1976 c.1773_1776delGAAA c.(1771-1776)CGGAAAfs p.R591fs KDM3B_uc010jew.1_Frame_Shift_Del_p.R247fs|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 591_592 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 CTGTGGACCGGAAAGTGCCTGCAG 0.544 NA 18 85 --- --- --- --- NA NA NA NA GTF2IRD2 84163 broad.mit.edu 37 7 74211326 74211327 + Frame_Shift_Ins INS - - T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr7:74211326_74211327insT uc003ubd.1 - 16 2708_2709 c.2524_2525insA c.(2524-2526)CTCfs p.L842fs GTF2IRD2_uc010lbt.1_Frame_Shift_Ins_p.L389fs NM_173537 NP_775808 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 gctttcgtagagtttgaaatca 0 NA 12 65 --- --- --- --- NA NA NA NA VPS13B 157680 broad.mit.edu 37 8 100871564 100871572 + In_Frame_Del DEL AGCCCTGCA AGCCCTGCA - rs61754107 byFrequency TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr8:100871564_100871572delAGCCCTGCA uc003yiv.2 + 57 11086_11094 c.10975_10983delAGCCCTGCA c.(10975-10983)AGCCCTGCAdel p.SPA3659del VPS13B_uc003yiw.2_In_Frame_Del_p.SPA3634del NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3659_3661 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) TATTCTTGGCAGCCCTGCAAGCCTGGTGA 0.56 NA 10 127 --- --- --- --- NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21968234 21968234 + Frame_Shift_Del DEL G G - TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dedba61-e137-4ae4-8312-94231e3b1d16 90409946-46de-41a9-bb8a-b495ce346df2 g.chr9:21968234delG uc003zpk.2 - 3 677 c.465delC c.(463-465)CCCfs p.P155fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 155 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(4) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCTTTCAATCGGGGATGTCTG 0.557 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 28 21 --- --- --- --- NA NA NA NA