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 CAMTA1 23261 broad.mit.edu 37 1 7798213 7798213 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:7798213G>A uc001aoi.2 + 16 4060 c.3853G>A c.(3853-3855)GAG>AAG p.E1285K CAMTA1_uc010nzv.1_Missense_Mutation_p.E372K|CAMTA1_uc001aok.3_Missense_Mutation_p.E328K|CAMTA1_uc001aoj.2_Missense_Mutation_p.E241K NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1285 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GTCTGTCCCCGAGACACTCAG 0.552 NA 23 14 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39951383 39951383 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:39951383G>A uc010oiu.1 + 64 17865 c.17734G>A c.(17734-17736)GGG>AGG p.G5912R MACF1_uc010ois.1_Missense_Mutation_p.G5404R|MACF1_uc001cde.1_Missense_Mutation_p.G318R|MACF1_uc001cdf.1_Missense_Mutation_p.G287R|MACF1_uc001cdg.2_3'UTR|MACF1_uc001cdh.2_3'UTR NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 7362 C-terminal tail (By similarity). 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) CTCCAGGAGAGGGCTAAACAA 0.542 NA 6 129 0 0 0 0 ZNF643 65243 broad.mit.edu 37 1 40929123 40929123 + Silent SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:40929123C>G uc001cfn.1 + 5 1764 c.1467C>G c.(1465-1467)TCC>TCG p.S489S ZNF643_uc001cfl.1_Silent_p.S387S|ZNF643_uc001cfm.1_Silent_p.S355S NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 489 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) ATGATTCATCCTTTGCTAAAC 0.388 NA 4 47 0 0 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44365306 44365306 + Silent SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:44365306T>A uc001ckc.2 + 9 828 c.651T>A c.(649-651)CCT>CCA p.P217P ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.P232P|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Silent_p.P286P|ST3GAL3_uc001ckd.2_Silent_p.P271P|ST3GAL3_uc001cke.2_Silent_p.P201P|ST3GAL3_uc001ckf.2_Silent_p.P255P|ST3GAL3_uc001ckg.2_Silent_p.P217P|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Silent_p.P217P|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_Intron|ST3GAL3_uc001ckk.2_Silent_p.P186P|ST3GAL3_uc009vwy.2_Silent_p.P123P|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Intron|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Silent_p.P201P|ST3GAL3_uc009vxa.2_Silent_p.P4P|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Silent_p.P170P|ST3GAL3_uc009vxb.2_Intron NM_006279 NP_006270 Q11203 SIAT6_HUMAN sialyltransferase 6 isoform j 217 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity ovary(3) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) TGCAGCGGCCTGAGCAGTACG 0.537 NA 42 54 0 0 0 0 CC2D1B 200014 broad.mit.edu 37 1 52823543 52823543 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:52823543C>G uc001ctq.1 - 14 1645 c.1507G>C c.(1507-1509)GCC>CCC p.A503P CC2D1B_uc001ctr.2_Missense_Mutation_p.A43P|CC2D1B_uc001cts.2_Missense_Mutation_p.A188P NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 503 ovary(2) 2 GGTTTCTTGGCCACTGGGGCC 0.602 NA 30 11 0 0 0 0 CLCA1 1179 broad.mit.edu 37 1 86961316 86961316 + Nonsense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:86961316C>T uc001dlt.2 + 12 2200 c.2071C>T c.(2071-2073)CAG>TAG p.Q691* NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 691 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AGTGATACCCCAGCAGAGTGG 0.448 NA 21 7 0 0 0 0 NBPF15 284565 broad.mit.edu 37 1 148594407 148594407 + Missense_Mutation SNP G G A rs144416833 byFrequency TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:148594407G>A uc001esc.2 + 19 2269 c.1780G>A c.(1780-1782)GTG>ATG p.V594M NM_173638 NP_775909 Q8N660 NBPFF_HUMAN hypothetical protein LOC284565 594 NBPF 6. cytoplasm 0 all_hematologic(923;0.032) GCTCTACGGCGTGCTGATGGA 0.458 NA 124 192 0 0 0 0 SNX27 81609 broad.mit.edu 37 1 151640992 151640992 + Nonsense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:151640992C>T uc001eyn.1 + 7 1046 c.1030C>T c.(1030-1032)CAG>TAG p.Q344* SNX27_uc001eyo.2_Nonsense_Mutation_p.Q251*|SNX27_uc001eyp.2_Nonsense_Mutation_p.Q158* NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 344 Ras-associating. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) ACTCTACATTCAGAATTATAC 0.383 NA 30 92 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152276850 152276850 + Silent SNP C C T rs139345866 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:152276850C>T uc001ezu.1 - 3 10548 c.10512G>A c.(10510-10512)TCG>TCA p.S3504S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3504 Ser-rich.|Filaggrin 21. 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) CATGGTGATGCGACCATGAGT 0.577 NA Ichthyosis 138 227 0 0 0 0 LMNA 4000 broad.mit.edu 37 1 156106747 156106747 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:156106747G>A uc001fni.2 + 8 1665 c.1416G>A c.(1414-1416)CAG>CAA p.Q472Q LMNA_uc001fnf.1_Silent_p.Q472Q|LMNA_uc001fng.2_Silent_p.Q472Q|LMNA_uc001fnh.2_Silent_p.Q472Q|LMNA_uc009wro.1_Silent_p.Q472Q|LMNA_uc010pgz.1_Silent_p.Q360Q|LMNA_uc001fnj.2_Silent_p.Q391Q|LMNA_uc001fnk.2_Silent_p.Q373Q|LMNA_uc009wrp.2_3'UTR|LMNA_uc010pha.1_Silent_p.Q128Q NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 472 Tail. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) TCAAGCGCCAGAATGGAGATG 0.592 NA Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome 23 19 0 0 0 0 KIAA1614 57710 broad.mit.edu 37 1 180910242 180910242 + Missense_Mutation SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:180910242A>G uc001gok.2 + 7 3047 c.2980A>G c.(2980-2982)AAG>GAG p.K994E KIAA1614_uc001gol.1_Missense_Mutation_p.K615E|KIAA1614_uc001gom.1_Missense_Mutation_p.K85E NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 994 Ser-rich. ovary(3)|skin(1) 4 GGACCAGAACAAGAAAAGGAG 0.642 NA 6 47 0 0 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:186276981A>G uc001gru.3 + 7 2181 c.2130A>G c.(2128-2130)AAA>AAG p.K710K PRG4_uc001grt.3_Silent_p.K669K|PRG4_uc009wyl.2_Silent_p.K617K|PRG4_uc009wym.2_Silent_p.K576K|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CTACCCCTAAAGGGACTGCTC 0.582 NA 4 196 0 0 0 0 TPR 7175 broad.mit.edu 37 1 186321170 186321170 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:186321170C>G uc001grv.2 - 19 2704 c.2407G>C c.(2407-2409)GAG>CAG p.E803Q NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 803 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AACAAAGACTCTCTTTGCTGA 0.318 NA T NTRK1 papillary thyroid 19 100 0 0 0 0 CR1 1378 broad.mit.edu 37 1 207751469 207751469 + Silent SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:207751469C>A uc001hfy.2 + 21 3647 c.3507C>A c.(3505-3507)GGC>GGA p.G1169G CR1_uc009xcl.1_Silent_p.G719G|CR1_uc001hfx.2_Silent_p.G1619G NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1169 Extracellular (Potential).|Sushi 18. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 GTCAGCCTGGCTTTGTCATGA 0.483 NA 8 115 0.00010058 0.000118119 1 0 LAMB3 3914 broad.mit.edu 37 1 209796421 209796421 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:209796421A>C uc001hhg.2 - 16 2852 c.2462T>G c.(2461-2463)GTC>GGC p.V821G LAMB3_uc009xco.2_Missense_Mutation_p.V821G|LAMB3_uc001hhh.2_Missense_Mutation_p.V821G|LAMB3_uc010psl.1_RNA NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 821 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCTGGGAAGGACACCCCTGCA 0.632 NA 44 60 0 0 0 0 PTPN14 5784 broad.mit.edu 37 1 214542900 214542900 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:214542900C>T uc001hkk.1 - 17 3442 c.3171G>A c.(3169-3171)AAG>AAA p.K1057K NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 1057 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGTGCTTGACCTTCAAGCCCG 0.478 NA 94 204 0 0 0 0 LEFTY2 7044 broad.mit.edu 37 1 226125198 226125198 + Silent SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:226125198C>A uc001hpt.1 - 4 1124 c.1044G>T c.(1042-1044)GTG>GTT p.V348V LEFTY2_uc010pvk.1_Silent_p.V314V|LEFTY2_uc009xek.1_3'UTR NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 348 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) TGCACTTCTGCACCCTCATGT 0.617 NA 35 59 3.11e-16 4.07e-16 1 0 LIN9 286826 broad.mit.edu 37 1 226454018 226454018 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:226454018C>T uc001hqa.2 - 9 1190 c.880G>A c.(880-882)GAG>AAG p.E294K LIN9_uc001hqb.2_Missense_Mutation_p.E259K|LIN9_uc001hqc.2_Missense_Mutation_p.E226K|LIN9_uc009xel.1_Missense_Mutation_p.E259K NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 278 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GGCATTGTCTCATGAGGTTCA 0.363 NA 9 23 0 0 0 0 CABC1 56997 broad.mit.edu 37 1 227170663 227170663 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:227170663C>T uc001hqm.1 + 13 4427 c.1008C>T c.(1006-1008)TTC>TTT p.F336F CABC1_uc001hqn.1_Silent_p.F336F|CABC1_uc009xeq.1_Silent_p.F284F|CABC1_uc010pvq.1_Silent_p.F57F|CABC1_uc010pvr.1_Intron|CABC1_uc001hqo.1_Silent_p.F57F|CABC1_uc009xer.1_5'UTR NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 336 Protein kinase. cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) AGCGGCCCTTCGCCGCCGCAT 0.642 NA 3 5 0 0 0 0 OR1C1 26188 broad.mit.edu 37 1 247921171 247921171 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:247921171C>G uc010pza.1 - 1 538 c.538G>C c.(538-540)GAT>CAT p.D180H NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGATTGAGATCACAGAAGAAA 0.483 NA 17 29 0 0 0 0 OR11L1 391189 broad.mit.edu 37 1 248005020 248005020 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:248005020T>A uc001idn.1 - 1 179 c.179A>T c.(178-180)TAC>TTC p.Y60F NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGGAACATGTACATAGGGGA 0.547 NA 12 21 0 0 0 0 OR2T12 127064 broad.mit.edu 37 1 248458698 248458698 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:248458698C>T uc010pzj.1 - 1 183 c.183G>A c.(181-183)CTG>CTA p.L61L NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AAAGTTGGCTCAGGAGGAAGT 0.552 NA 54 58 0 0 0 0 LARP4B 23185 broad.mit.edu 37 10 863817 863817 + Nonsense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:863817G>A uc001ifs.1 - 14 1584 c.1543C>T c.(1543-1545)CAG>TAG p.Q515* NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 515 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 GTTGGAGACTGTGTCTGGCTG 0.557 NA 23 49 0 0 0 0 IL2RA 3559 broad.mit.edu 37 10 6061875 6061875 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:6061875C>T uc001iiz.1 - 5 772 c.613G>A c.(613-615)GGC>AGC p.G205S IL2RA_uc009xih.1_Missense_Mutation_p.G133S|IL2RA_uc001ija.1_Intron NM_000417 NP_000408 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha chain precursor 205 Extracellular (Potential). cell proliferation integral to membrane interleukin-2 receptor activity ovary(1)|skin(1) 2 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TCAGGACGGCCTTCGGGGCTT 0.597 NA 30 59 0 0 0 0 MCM10 55388 broad.mit.edu 37 10 13240697 13240697 + Nonsense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:13240697G>T uc001ima.2 + 16 2232 c.2131G>T c.(2131-2133)GAA>TAA p.E711* MCM10_uc001imb.2_Nonsense_Mutation_p.E710*|MCM10_uc001imc.2_Nonsense_Mutation_p.E710* NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 711 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 AGCTGAGGATGAATTGGAGCC 0.458 NA 45 61 8.94e-30 1.19e-29 1 0 NPFFR1 64106 broad.mit.edu 37 10 72020461 72020461 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:72020461G>A uc010qjk.1 - 2 357 c.351C>T c.(349-351)AGC>AGT p.S117S NM_022146 NP_071429 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 119 Helical; Name=3; (Potential). integral to membrane|plasma membrane neuropeptide receptor activity 0 GCACCAAGCCGCTCATCTTGC 0.532 NA 7 17 0 0 0 0 KIAA0913 23053 broad.mit.edu 37 10 75552076 75552076 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:75552076T>A uc009xrl.2 + 10 1811 c.1779T>A c.(1777-1779)AGT>AGA p.S593R KIAA0913_uc001jve.2_Missense_Mutation_p.S593R|KIAA0913_uc001jvf.2_Missense_Mutation_p.S593R|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.S16R|KIAA0913_uc010qkr.1_Missense_Mutation_p.S16R|KIAA0913_uc001jvj.2_Missense_Mutation_p.S16R NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 593 Gly-rich. zinc ion binding breast(1) 1 Prostate(51;0.0112) GGGCTGGCAGTGGGAGCAAGG 0.642 NA 13 17 0 0 0 0 LIPN 643418 broad.mit.edu 37 10 90521213 90521213 + Silent SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:90521213T>C uc010qmw.1 + 1 51 c.51T>C c.(49-51)AAT>AAC p.N17N NM_001102469 NP_001095939 Q5VXI9 LIPN_HUMAN lipase-like, ab-hydrolase domain containing 4 17 lipid catabolic process extracellular region hydrolase activity 0 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) GAACTTTAAATGCTGGTGGAT 0.343 NA 39 62 0 0 0 0 TLX1 3195 broad.mit.edu 37 10 102891411 102891411 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:102891411C>G uc001ksw.2 + 1 351 c.113C>G c.(112-114)TCG>TGG p.S38W TLX1NB_uc001ksv.2_5'Flank NM_005521 NP_005512 P31314 TLX1_HUMAN T-cell leukemia homeobox 1 38 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GGACCCGCCTCGCGCCTCCAG 0.706 NA T TRB@|TRD@ T-ALL 8 15 0 0 0 0 ACSL5 51703 broad.mit.edu 37 10 114158684 114158684 + Missense_Mutation SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:114158684A>G uc001kzs.2 + 3 323 c.182A>G c.(181-183)CAG>CGG p.Q61R ACSL5_uc001kzt.2_Missense_Mutation_p.Q61R|ACSL5_uc001kzu.2_Missense_Mutation_p.Q117R|ACSL5_uc009xxz.2_Missense_Mutation_p.Q61R NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 61 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GGGGTTTCCCAGAAGAACAAT 0.463 NA 55 73 0 0 0 0 ACSL5 51703 broad.mit.edu 37 10 114171725 114171725 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:114171725G>C uc001kzs.2 + 11 1077 c.936G>C c.(934-936)GAG>GAC p.E312D ACSL5_uc001kzt.2_Missense_Mutation_p.E312D|ACSL5_uc001kzu.2_Missense_Mutation_p.E368D|ACSL5_uc009xxz.2_Missense_Mutation_p.E312D|ACSL5_uc010qrj.1_Missense_Mutation_p.E94D NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 312 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) ATATGTTTGAGAGGATTGTAC 0.478 NA 7 139 0 0 0 0 NLRP14 338323 broad.mit.edu 37 11 7063670 7063670 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:7063670G>T uc001mfb.1 + 4 736 c.413G>T c.(412-414)TGG>TTG p.W138L NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 138 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGCATCACTTGGGACAAGAAG 0.363 NA 30 16 1.4e-14 1.81e-14 1 0 OR10A6 390093 broad.mit.edu 37 11 7950014 7950014 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:7950014A>C uc010rbh.1 - 1 196 c.196T>G c.(196-198)TTA>GTA p.L66V NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACCACAGATAAGTTCAGGAGA 0.443 NA 61 29 0 0 0 0 NAV2 89797 broad.mit.edu 37 11 19970445 19970445 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:19970445G>A uc010rdm.1 + 11 2894 c.2533G>A c.(2533-2535)GTG>ATG p.V845M NAV2_uc001mpp.2_Missense_Mutation_p.V758M|NAV2_uc001mpr.3_Missense_Mutation_p.V822M NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 845 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 AGGTCGCTATGTGTACTCCGC 0.612 NA 40 14 0 0 0 0 RAG2 5897 broad.mit.edu 37 11 36614509 36614509 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:36614509C>T uc001mwv.3 - 2 1398 c.1210G>A c.(1210-1212)GAA>AAA p.E404K RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 404 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TCATCATCTTCATTATAGGTG 0.403 NA Familial_Hemophagocytic_Lymphohistiocytosis 38 24 0 0 0 0 FAM111B 374393 broad.mit.edu 37 11 58892341 58892341 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:58892341T>A uc001nnl.2 + 4 1014 c.771T>A c.(769-771)GAT>GAA p.D257E FAM111B_uc001nnm.2_Missense_Mutation_p.D227E|FAM111B_uc010rko.1_Missense_Mutation_p.D227E NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 257 catalytic activity ovary(2) 2 CCATGGTGGATGAAGTATCTG 0.343 NA 4 31 0 0 0 0 B3GAT3 26229 broad.mit.edu 37 11 62384617 62384617 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:62384617G>A uc001ntw.2 - 3 489 c.460C>T c.(460-462)CAT>TAT p.H154Y B3GAT3_uc009ynz.2_Missense_Mutation_p.H147Y|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.H154Y NM_012200 NP_036332 O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 154 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding 0 CCACGGGGATGAACCCAGCCA 0.687 NA 33 46 0 0 0 0 TM7SF2 7108 broad.mit.edu 37 11 64883456 64883456 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:64883456G>A uc001oct.2 + 10 1335 c.1188G>A c.(1186-1188)CAG>CAA p.Q396Q TM7SF2_uc010rny.1_Silent_p.Q280Q|TM7SF2_uc001ocu.2_Silent_p.Q369Q|TM7SF2_uc001ocv.2_Silent_p.Q417Q|uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 396 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 AGTGCCTGCAGAAGTACGGCC 0.632 NA 21 32 0 0 0 0 RAB1B 81876 broad.mit.edu 37 11 66039643 66039643 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:66039643G>C uc001ohf.2 + 3 198 c.103G>C c.(103-105)GAG>CAG p.E35Q uc001ohg.1_RNA NM_030981 NP_112243 Q9H0U4 RAB1B_HUMAN RAB1B, member RAS oncogene family 35 protein transport|small GTPase mediated signal transduction Golgi apparatus|membrane GTP binding|protein binding 0 CACGTACACAGAGAGCTACAT 0.527 NA 74 150 0 0 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816400 67816400 + Missense_Mutation SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:67816400A>T uc001one.2 + 14 1717 c.1609A>T c.(1609-1611)ATG>TTG p.M537L TCIRG1_uc001ong.2_Missense_Mutation_p.M321L|TCIRG1_uc001onh.2_Missense_Mutation_p.M239L|TCIRG1_uc001oni.2_Missense_Mutation_p.M41L|TCIRG1_uc009ysd.2_5'Flank NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 537 Lumenal (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 CAAGATGAAGATGTCCGTCAT 0.632 NA 62 86 0 0 0 0 NAALAD2 10003 broad.mit.edu 37 11 89902099 89902099 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:89902099G>C uc001pdf.3 + 12 1390 c.1281G>C c.(1279-1281)GAG>GAC p.E427D NAALAD2_uc009yvx.2_Missense_Mutation_p.E394D|NAALAD2_uc009yvy.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 427 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AACTACAGGAGAATGTCAAAA 0.303 NA 12 42 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 100211833 100211833 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:100211833C>G uc001pga.2 + 23 3265 c.2926C>G c.(2926-2928)CAA>GAA p.Q976E CNTN5_uc001pgb.2_Missense_Mutation_p.Q902E|CNTN5_uc010ruk.1_Missense_Mutation_p.Q247E NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 976 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGCTCCTAGTCAAGCACCTAG 0.428 NA 4 110 0 0 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102993566 102993566 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:102993566A>C uc001pho.2 + 11 1642 c.1498A>C c.(1498-1500)ATC>CTC p.I500L DYNC2H1_uc001phn.1_Missense_Mutation_p.I500L|DYNC2H1_uc009yxe.1_Missense_Mutation_p.I500L NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 500 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGATGATACTATCAAGATTGC 0.358 NA 15 25 0 0 0 0 BSX 390259 broad.mit.edu 37 11 122850009 122850009 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:122850009C>T uc010rzs.1 - 2 419 c.419G>A c.(418-420)CGA>CAA p.R140Q NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 140 Homeobox. 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CAGCTCCACTCGTTCTGGCGT 0.637 NA 42 97 0 0 0 0 FGF23 8074 broad.mit.edu 37 12 4479837 4479837 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:4479837C>G uc001qmq.1 - 3 574 c.428G>C c.(427-429)AGA>ACA p.R143T NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 143 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CAGGAAGGCTCTCTTCGCCCG 0.597 NA 68 110 0 0 0 0 GDF3 9573 broad.mit.edu 37 12 7842556 7842556 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:7842556G>A uc001qte.2 - 2 1049 c.1013C>T c.(1012-1014)TCC>TTC p.S338F NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 338 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 GTAGAGCATGGAAATGGGAGA 0.478 NA 30 59 0 0 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51281127 51281127 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:51281127G>A uc001rwx.3 + 5 925 c.878G>A c.(877-879)GGC>GAC p.G293D TMPRSS12_uc001rwy.2_3'UTR NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane protease, serine 12 precursor 293 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity 0 TACGGACATGGCTGTGGTCGA 0.433 NA 53 73 0 0 0 0 KRT76 51350 broad.mit.edu 37 12 53164843 53164843 + Missense_Mutation SNP T T G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:53164843T>G uc001sax.2 - 7 1478 c.1424A>C c.(1423-1425)AAG>ACG p.K475T NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 475 Rod.|Coil 2. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 CAGGGCCAGCTTGACGTTCAT 0.572 NA 9 116 0 0 0 0 OR6C75 390323 broad.mit.edu 37 12 55759093 55759093 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:55759093C>T uc010spk.1 + 1 199 c.199C>T c.(199-201)CTG>TTG p.L67L NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 CTTCTCATTCCTGGAAATTTC 0.443 NA 81 119 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57594938 57594938 + Splice_Site SNP T T C rs111522273 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:57594938T>C uc001snd.2 + 65 10811 c.10345_splice c.e65+2 p.P3449_splice NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGGACTGCCGTGAGTGTCAGA 0.567 NA 45 84 0 0 0 0 HELB 92797 broad.mit.edu 37 12 66725387 66725387 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:66725387G>C uc001sti.2 + 12 3152 c.3124G>C c.(3124-3126)GGT>CGT p.G1042R HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 1042 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AAGAACCTGTGGTGTGAATGA 0.388 NA 5 160 0 0 0 0 IL22 50616 broad.mit.edu 37 12 68645319 68645319 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:68645319G>T uc001sty.1 - 4 489 c.436C>A c.(436-438)CAA>AAA p.Q146K IL22_uc010stb.1_Missense_Mutation_p.Q146K NM_020525 NP_065386 Q9GZX6 IL22_HUMAN interleukin 22 precursor 146 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding 0 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) TTCAGCTTTTGCACATTCCTC 0.363 NA 23 134 3.74e-20 4.95e-20 1 0 MDM1 56890 broad.mit.edu 37 12 68719244 68719244 + Missense_Mutation SNP C C A rs138314442 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:68719244C>A uc001stz.2 - 4 746 c.610G>T c.(610-612)GCT>TCT p.A204S MDM1_uc010stc.1_Intron|MDM1_uc009zqv.1_5'UTR|MDM1_uc001sua.3_3'UTR|MDM1_uc010std.1_3'UTR NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 204 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) AAAGCTGGAGCAGTTTCTTTA 0.348 NA 103 380 2.98e-41 4.04e-41 1 0 GALNT4 8693 broad.mit.edu 37 12 89917406 89917406 + Silent SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:89917406A>T uc001tbd.2 - 1 1130 c.921T>A c.(919-921)CCT>CCA p.P307P POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Silent_p.P304P|GALNT4_uc010suo.1_5'UTR NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 307 Catalytic subdomain B.|Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 CAGCCATGGTAGGTGATCTGA 0.473 NA 7 79 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104118864 104118864 + Missense_Mutation SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:104118864A>T uc001tjw.2 + 45 4981 c.4795A>T c.(4795-4797)ATT>TTT p.I1599F STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1599 Extracellular (Potential).|FAS1 5. IY -> HE (in Ref. 7; AAF82398). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCGCGGCAGCATTTATCAGGT 0.438 NA 67 16 0 0 0 0 GLT8D2 83468 broad.mit.edu 37 12 104390557 104390557 + Missense_Mutation SNP C C T rs7133444 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:104390557C>T uc001tkh.1 - 8 962 c.556G>A c.(556-558)GAT>AAT p.D186N GLT8D2_uc001tki.1_Missense_Mutation_p.D186N NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 186 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 GAGGGCAAATCGCAGTCATCT 0.502 NA 59 19 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112665943 112665943 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:112665943C>T uc009zwc.2 - 36 5556 c.5538G>A c.(5536-5538)GGG>GGA p.G1846G C12orf51_uc001ttr.1_Silent_p.G21G NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CAGGAGCTGACCCATCTCCTG 0.517 NA 43 22 0 0 0 0 CDK8 1024 broad.mit.edu 37 13 26975692 26975692 + Silent SNP G G A rs138501276 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:26975692G>A uc001uqr.1 + 12 1226 c.1200G>A c.(1198-1200)CCG>CCA p.P400P CDK8_uc001uqs.1_Silent_p.P399P|CDK8_uc001uqt.1_Silent_p.P227P NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGGGACCCCCGTTGAAGAAAG 0.473 NA 7 47 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77671556 77671556 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:77671556C>G uc001vkf.2 - 57 9710 c.9619G>C c.(9619-9621)GGG>CGG p.G3207R MYCBP2_uc010aev.2_Missense_Mutation_p.G2611R|MYCBP2_uc001vkg.1_Missense_Mutation_p.G730R NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGTGACTCCCCACACAGTTCA 0.423 NA 14 29 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327892 88327892 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:88327892C>T uc001vln.2 + 2 468 c.249C>T c.(247-249)ATC>ATT p.I83I SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 83 LRR 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTTTCCCAATCTACCACCTCT 0.453 NA 84 138 0 0 0 0 F10 2159 broad.mit.edu 37 13 113777199 113777199 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:113777199C>T uc001vsx.2 + 1 87 c.30C>T c.(28-30)CTC>CTT p.L10L F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.L10L|F10_uc001vsz.2_Silent_p.L10L NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 10 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGTCCTGCTCAGTGCCTCCC 0.672 NA 12 25 0 0 0 0 AP1G2 8906 broad.mit.edu 37 14 24034829 24034829 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:24034829C>T uc001wkl.2 - 7 1064 c.727G>A c.(727-729)GAC>AAC p.D243N AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.D171N|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.D243N|AP1G2_uc010aks.2_Missense_Mutation_p.D171N|AP1G2_uc010akt.2_Missense_Mutation_p.D171N|AP1G2_uc010tnq.1_RNA NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 243 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) AGGAAGGGGTCGCTGACTCCA 0.557 NA 16 31 0 0 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884134 24884134 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:24884134C>T uc001wpf.3 + 9 3497 c.3179C>T c.(3178-3180)GCA>GTA p.A1060V NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1060 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 CTGCCAGGGGCAGCTTCTCCC 0.647 NA 9 121 0 0 0 0 KLHL28 54813 broad.mit.edu 37 14 45414307 45414307 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:45414307C>T uc001wvq.2 - 2 1071 c.825G>A c.(823-825)ATG>ATA p.M275I KLHL28_uc001wvr.2_Missense_Mutation_p.M275I|KLHL28_uc001wvt.3_Missense_Mutation_p.M275I NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 275 ovary(1) 1 GAGGTCGTGTCATCAAGACTG 0.418 NA 50 65 0 0 0 0 SOS2 6655 broad.mit.edu 37 14 50616839 50616839 + Silent SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:50616839T>A uc001wxs.3 - 14 2369 c.2271A>T c.(2269-2271)CCA>CCT p.P757P SOS2_uc010tql.1_Silent_p.P724P|SOS2_uc010tqm.1_RNA NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 757 Poly-Pro. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) ATTCAATTGGTGGAGGTGGAC 0.408 NA 50 94 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64518544 64518544 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:64518544C>G uc001xgm.2 + 48 8143 c.7913C>G c.(7912-7914)ACT>AGT p.T2638S SYNE2_uc001xgl.2_Missense_Mutation_p.T2638S NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2638 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTACAGGACACTGAGATTTCT 0.448 NA 14 99 0 0 0 0 MTHFD1 4522 broad.mit.edu 37 14 64891551 64891551 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:64891551G>T uc001xhb.2 + 9 1144 c.757G>T c.(757-759)GTG>TTG p.V253L MTHFD1_uc010aqe.2_Missense_Mutation_p.V289L|MTHFD1_uc010aqf.2_Missense_Mutation_p.V309L NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 253 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GAGAAAAGTTGTGGGTGATGT 0.488 NA 4 38 1.24e-05 1.5e-05 1 0 ARG2 384 broad.mit.edu 37 14 68108986 68108986 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:68108986C>T uc001xjs.2 + 3 384 c.268C>T c.(268-270)CGC>TGC p.R90C NM_001172 NP_001163 P78540 ARGI2_HUMAN arginase 2 precursor 90 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding 0 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) AGTGAATCCACGCTCAGTGGG 0.507 NA 24 31 0 0 0 0 TMEM90A 646658 broad.mit.edu 37 14 74874373 74874373 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:74874373C>T uc001xpx.2 - 4 830 c.582G>A c.(580-582)GGG>GGA p.G194G NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 194 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) GGCGGAAGTCCCCTTTGGAGA 0.662 NA 33 69 0 0 0 0 CCDC88C 440193 broad.mit.edu 37 14 91787565 91787565 + Nonsense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:91787565G>A uc010aty.2 - 13 1525 c.1426C>T c.(1426-1428)CAG>TAG p.Q476* NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 476 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) ATGGTGCTCTGGAGGCTCTGA 0.587 NA 8 14 0 0 0 0 PPP4R4 57718 broad.mit.edu 37 14 94722876 94722876 + Nonsense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:94722876G>T uc001ycs.1 + 17 2099 c.1945G>T c.(1945-1947)GAA>TAA p.E649* NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 649 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 TCAGCAGTTAGAAATGTGTGT 0.348 NA 5 26 0.000602214 0.000698526 1 0 HHIPL1 84439 broad.mit.edu 37 14 100125954 100125954 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:100125954C>T uc010avs.2 + 4 1301 c.1236C>T c.(1234-1236)CGC>CGT p.R412R HHIPL1_uc001ygl.1_Silent_p.R412R NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 412 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) GCACTGGCCGCGGGCGCCTCT 0.726 NA 6 4 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105421961 105421961 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:105421961C>T uc010axc.1 - 5 445 c.325G>A c.(325-327)GAG>AAG p.E109K AHNAK2_uc001ypx.2_Missense_Mutation_p.E9K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 109 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTGTTGCCTCCTGGACAGCC 0.602 NA 30 48 0 0 0 0 ATP8B4 79895 broad.mit.edu 37 15 50264849 50264849 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr15:50264849G>T uc001zxu.2 - 13 1315 c.1173C>A c.(1171-1173)TCC>TCA p.S391S ATP8B4_uc010ber.2_Silent_p.S264S|ATP8B4_uc010ufd.1_Silent_p.S264S|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 391 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCGTTTTGTCGGAGAAAATGT 0.433 NA 20 3 3.8e-18 5.02e-18 1 0 USP8 9101 broad.mit.edu 37 15 50769168 50769168 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr15:50769168G>A uc001zym.3 + 10 1472 c.972G>A c.(970-972)CAG>CAA p.Q324Q USP8_uc001zyk.1_Missense_Mutation_p.R24K|USP8_uc001zyl.3_Silent_p.Q324Q|USP8_uc001zyn.3_Silent_p.Q324Q|USP8_uc010ufh.1_Silent_p.Q247Q|USP8_uc010bev.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 324 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CACGACGCCAGAATGAAGAGG 0.393 NA 26 14 0 0 0 0 CSPG4 1464 broad.mit.edu 37 15 75982451 75982451 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr15:75982451G>A uc002baw.2 - 3 1048 c.955C>T c.(955-957)CGG>TGG p.R319W NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 319 Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 AGACTGCCCCGTGGCTCCAGG 0.617 NA 12 7 0 0 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83820108 83820108 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr15:83820108G>A uc002bjs.1 - 5 620 c.465C>T c.(463-465)TCC>TCT p.S155S NM_016073 NP_057157 Q9Y3E1 HDGR3_HUMAN hepatoma-derived growth factor, related protein 155 cell proliferation nucleus growth factor activity 0 ACTGTTTAGAGGATTTCTAAA 0.393 NA 17 31 0 0 0 0 CACNA1H 8912 broad.mit.edu 37 16 1245997 1245997 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:1245997C>T uc002cks.2 + 5 865 c.617C>T c.(616-618)CCC>CTC p.P206L CACNA1H_uc002ckt.2_Missense_Mutation_p.P206L NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 206 Helical; Name=S4 of repeat I; (Potential).|I. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GTGCTGCGGCCCCTCCGCGCC 0.657 NA 41 56 0 0 0 0 RAB26 25837 broad.mit.edu 37 16 2201695 2201695 + Splice_Site SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:2201695G>T uc002cou.2 + 4 483 c.349_splice c.e4-1 p.M117_splice RAB26_uc010bsf.2_Splice_Site_p.M51_splice NM_014353 NP_055168 Q9ULW5 RAB26_HUMAN RAB26, member RAS oncogene family exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction intrinsic to plasma membrane GTP binding|protein binding 0 TGTCGCTGCAGATGTGGGACA 0.622 NA 16 31 7.05e-17 9.26e-17 1 0 RAB26 25837 broad.mit.edu 37 16 2203334 2203334 + Missense_Mutation SNP G G A rs149402189 byFrequency TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:2203334G>A uc002cou.2 + 9 817 c.683G>A c.(682-684)CGC>CAC p.R228H RAB26_uc010bsf.2_Missense_Mutation_p.R162H|TRAF7_uc002cow.2_5'Flank NM_014353 NP_055168 Q9ULW5 RAB26_HUMAN RAB26, member RAS oncogene family 228 exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction intrinsic to plasma membrane GTP binding|protein binding 0 TTGAAGCAGCGCTCCATGAAG 0.642 NA 26 48 0 0 0 0 USP7 7874 broad.mit.edu 37 16 8990890 8990890 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:8990890C>G uc002czl.2 - 26 2984 c.2785G>C c.(2785-2787)GTG>CTG p.V929L USP7_uc010uyk.1_Missense_Mutation_p.V830L|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.V830L|USP7_uc002czk.2_Missense_Mutation_p.V913L NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 929 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 CCAAGCTCCACGGCCTTTTTA 0.438 NA 13 251 0 0 0 0 CIITA 4261 broad.mit.edu 37 16 11004076 11004076 + Nonsense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:11004076G>T uc002dai.3 + 13 2981 c.2848G>T c.(2848-2850)GAG>TAG p.E950* CIITA_uc002daj.3_Nonsense_Mutation_p.E951*|CIITA_uc002dak.3_Nonsense_Mutation_p.E366*|CIITA_uc010bup.1_Silent_p.G346G NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 950 Missing (in BLS2). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 CACAGCTGGGGAGCTCCCTGC 0.557 NA T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 11 22 0.00010058 0.000118119 1 0 MYH11 4629 broad.mit.edu 37 16 15797863 15797863 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:15797863G>A uc002ddy.2 - 41 6011 c.5904C>T c.(5902-5904)ACC>ACT p.T1968T MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Silent_p.T1975T|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1968 Carboxyl-terminal. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CACTGGCCTTGGTTCCATTGA 0.428 NA T CBFB AML 111 153 0 0 0 0 ZNF768 79724 broad.mit.edu 37 16 30536326 30536326 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:30536326C>A uc002dyk.3 - 2 1311 c.1135G>T c.(1135-1137)GGC>TGC p.G379C ZNF768_uc010vex.1_Missense_Mutation_p.G348C|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.G348C NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 379 C2H2-type 5. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 TAGCACTTGCCGCACTCGGTG 0.637 NA 23 20 2.42e-17 3.18e-17 1 0 ITGAD 3681 broad.mit.edu 37 16 31422110 31422110 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:31422110G>T uc002ebv.1 + 12 1316 c.1267G>T c.(1267-1269)GCC>TCC p.A423S ITGAD_uc010cap.1_Missense_Mutation_p.A423S NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 423 FG-GAP 4.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 GGTCCTGGGGGCCCCCCGCTA 0.642 NA 25 53 7.38e-10 9.3e-10 1 0 RFWD3 55159 broad.mit.edu 37 16 74695292 74695292 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:74695292T>A uc002fda.2 - 2 154 c.56A>T c.(55-57)CAA>CTA p.Q19L RFWD3_uc010cgq.2_Missense_Mutation_p.Q19L NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 19 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 AGCTGGCTGTTGTTCGGCATG 0.483 NA 112 170 0 0 0 0 GAN 8139 broad.mit.edu 37 16 81399047 81399047 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:81399047C>T uc002fgo.2 + 9 1614 c.1466C>T c.(1465-1467)ACT>ATT p.T489I NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 489 Kelch 5. cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) GAGATGGTAACTTGCAAGTCC 0.468 NA 93 96 0 0 0 0 ITGAE 3682 broad.mit.edu 37 17 3631298 3631298 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:3631298C>T uc002fwo.3 - 26 3098 c.2999G>A c.(2998-3000)GGA>GAA p.G1000E NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 1000 Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GTATTCTGCTCCAAAGAGGTT 0.418 NA 36 42 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7576928 7576928 + Splice_Site SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:7576928T>C uc002gim.2 - 9 1114 c.920_splice c.e9-1 p.A307_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(14)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(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) TGGGCAGTGCTAGGAAAGAGG 0.493 111 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) 46 45 0 0 0 0 NOS2 4843 broad.mit.edu 37 17 26125804 26125804 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:26125804G>C uc002gzu.2 - 2 296 c.32C>G c.(31-33)ACC>AGC p.T11S NOS2_uc010crh.1_Missense_Mutation_p.T11S|NOS2_uc010wab.1_Missense_Mutation_p.T11S NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 11 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GTGGAATTTGGTCTTGAACAG 0.458 NA 33 33 0 0 0 0 SUPT6H 6830 broad.mit.edu 37 17 27009843 27009843 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:27009843C>T uc002hby.2 + 14 1786 c.1696C>T c.(1696-1698)CCC>TCC p.P566S SUPT6H_uc010crt.2_Missense_Mutation_p.P566S NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 566 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TCCCGCGGAGCCCTTGGAGCT 0.602 NA 33 46 0 0 0 0 AATF 26574 broad.mit.edu 37 17 35306512 35306512 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:35306512G>A uc002hni.2 + 1 338 c.87G>A c.(85-87)GAG>GAA p.E29E AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 29 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) CGGACCCCGAGGAAGGTGAGG 0.746 NA 3 6 0 0 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274113 39274113 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:39274113G>A uc002hvz.2 - 1 494 c.455C>T c.(454-456)TCC>TTC p.S152F NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 152 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|25. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcagcagctggattcacagca 0.239 NA 9 27 0 0 0 0 RNFT1 51136 broad.mit.edu 37 17 58042024 58042024 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:58042024T>C uc002iya.2 - 1 94 c.1A>G c.(1-3)ATG>GTG p.M1V uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.M1V|RNFT1_uc002iyd.3_Missense_Mutation_p.M1V NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN PTD016 protein 1 integral to membrane zinc ion binding 0 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) AACAGCGGCATACACCGCCTC 0.701 NA 6 9 0 0 0 0 TLK2 11011 broad.mit.edu 37 17 60685501 60685501 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:60685501G>C uc010ddp.2 + 22 2405 c.2137G>C c.(2137-2139)GAA>CAA p.E713Q TLK2_uc002izx.3_Missense_Mutation_p.E539Q|TLK2_uc002izz.3_Missense_Mutation_p.E691Q|TLK2_uc002jaa.3_Missense_Mutation_p.E659Q|TLK2_uc010wpd.1_Missense_Mutation_p.E659Q NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 713 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 AGTAACACCTGAAGCAAAGGT 0.433 NA 35 29 0 0 0 0 RECQL5 9400 broad.mit.edu 37 17 73624385 73624385 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:73624385G>A uc010dgl.2 - 18 2874 c.2718C>T c.(2716-2718)TCC>TCT p.S906S RECQL5_uc010dgk.2_Silent_p.S879S|RECQL5_uc002jot.3_Silent_p.S102S NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 906 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CGCCAGGAGCGGAGAGCTGGA 0.597 NA Other_identified_genes_with_known_or_suspected_DNA_repair_function 8 49 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78322014 78322014 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:78322014C>A uc002jyh.1 + 4 4321 c.4098C>A c.(4096-4098)CAC>CAA p.H1366Q NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GACAGAGGCACAACTCCTTTG 0.597 NA 3 44 6.4e-05 7.63e-05 1 0 PTPRM 5797 broad.mit.edu 37 18 8296397 8296397 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr18:8296397A>C uc002knn.3 + 18 3250 c.2747A>C c.(2746-2748)GAC>GCC p.D916A PTPRM_uc010dkv.2_Missense_Mutation_p.D929A|PTPRM_uc010wzl.1_Missense_Mutation_p.D703A NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 916 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) GCACCATGGGACTCGGCTAAG 0.423 NA 3 38 0 0 0 0 ZNF846 162993 broad.mit.edu 37 19 9868519 9868519 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:9868519G>T uc002mmb.1 - 6 1765 c.1234C>A c.(1234-1236)CAT>AAT p.H412N ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.H283N NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 412 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATCCTTACATGTTGACTAAGC 0.403 NA 28 52 4.23e-11 5.38e-11 1 0 KRI1 65095 broad.mit.edu 37 19 10675688 10675688 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:10675688C>T uc002moy.1 - 3 218 c.209G>A c.(208-210)CGG>CAG p.R70Q KRI1_uc002mox.1_Missense_Mutation_p.R66Q NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 70 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GTAAAAGTCCCGCTCCTGCTG 0.522 NA OREG0025239 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 65 0 0 0 0 CCDC151 115948 broad.mit.edu 37 19 11537725 11537725 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:11537725C>G uc002mrs.2 - 4 723 c.580G>C c.(580-582)GAG>CAG p.E194Q CCDC151_uc002mrr.2_Missense_Mutation_p.E129Q|CCDC151_uc010dxz.2_Missense_Mutation_p.E168Q NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 194 Potential. ovary(1) 1 TTTTGCGCCTCCGCCATCTCC 0.677 NA 30 45 0 0 0 0 OR7C2 26658 broad.mit.edu 37 19 15052714 15052714 + Silent SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:15052714C>A uc010xoc.1 + 1 414 c.414C>A c.(412-414)CCC>CCA p.P138P NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) TCATGAACCCCCGGCTCTGTG 0.537 NA 64 115 2.9e-36 3.88e-36 1 0 NOTCH3 4854 broad.mit.edu 37 19 15288423 15288423 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:15288423T>C uc002nan.2 - 24 4392 c.4316A>G c.(4315-4317)AAC>AGC p.N1439S NOTCH3_uc002nao.1_Missense_Mutation_p.N1387S NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1439 Extracellular (Potential).|LNR 2. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCAGCGGCTGTTGTTGAAGAG 0.701 NA 7 2 0 0 0 0 AKAP8L 26993 broad.mit.edu 37 19 15514345 15514345 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:15514345C>T uc002naw.1 - 4 402 c.303G>A c.(301-303)ATG>ATA p.M101I AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Intron|AKAP8L_uc002nay.1_Missense_Mutation_p.M101I|AKAP8L_uc002naz.2_5'Flank NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 101 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 AATGCGGCACCATATCTAAGC 0.537 NA 65 101 0 0 0 0 OR10H5 284433 broad.mit.edu 37 19 15905429 15905429 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:15905429G>A uc010xos.1 + 1 571 c.571G>A c.(571-573)GAT>AAT p.D191N NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGCCTGTGGAGATGATGTGCT 0.572 NA 6 86 0 0 0 0 SLC5A5 6528 broad.mit.edu 37 19 17988641 17988641 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:17988641G>A uc002nhr.3 + 6 1155 c.808G>A c.(808-810)GTG>ATG p.V270M NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 270 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 GCAGCGCTACGTGGCTTGCCG 0.607 NA 45 67 0 0 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368445 18368445 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:18368445C>T uc002nin.2 - 4 3304 c.3088G>A c.(3088-3090)GAC>AAC p.D1030N PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.D1217N|KIAA1683_uc010xqe.1_Missense_Mutation_p.D984N|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 1030 mitochondrion ovary(2) 2 CAGCGATGGTCAGATACTGTC 0.657 NA 25 44 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20736633 20736633 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:20736633C>T uc002npa.2 - 2 192 c.12G>A c.(10-12)TTG>TTA p.L4L NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 4 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 CTCTAAATTGCAATGGCCCCT 0.403 NA 36 44 0 0 0 0 ZNF507 22847 broad.mit.edu 37 19 32844322 32844322 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:32844322C>T uc002nte.2 + 3 858 c.586C>T c.(586-588)CCC>TCC p.P196S ZNF507_uc002ntc.2_Missense_Mutation_p.P196S|ZNF507_uc010xrn.1_Missense_Mutation_p.P196S|ZNF507_uc002ntd.2_Missense_Mutation_p.P196S NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) GTGCGTAAGCCCCTCCAGCTC 0.468 NA 37 49 0 0 0 0 MLL4 9757 broad.mit.edu 37 19 36210733 36210733 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:36210733C>T uc010eei.2 + 3 484 c.484C>T c.(484-486)CCT>TCT p.P162S NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 162 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACCCCCCTTCCTCCTCCTCG 0.607 NA 52 97 0 0 0 0 HNRNPL 3191 broad.mit.edu 37 19 39336596 39336596 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:39336596G>C uc010xul.1 - 3 532 c.521C>G c.(520-522)TCT>TGT p.S174C HNRNPL_uc010xum.1_Missense_Mutation_p.S41C|HNRNPL_uc010xun.1_5'Flank NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 174 RRM 1. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CTGGCTGGTAGAGTAGTTGAC 0.522 NA 51 98 0 0 0 0 CLPTM1 1209 broad.mit.edu 37 19 45496120 45496120 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:45496120C>T uc002pai.2 + 14 1990 c.1975C>T c.(1975-1977)CCT>TCT p.P659S CLPTM1_uc010xxf.1_Missense_Mutation_p.P557S|CLPTM1_uc010xxg.1_Missense_Mutation_p.P645S NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 659 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CCAGGAAGCCCCTCCAAAGCC 0.682 NA 20 33 0 0 0 0 CKM 1158 broad.mit.edu 37 19 45810135 45810135 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:45810135T>C uc002pbd.2 - 8 1093 c.1019A>G c.(1018-1020)GAT>GGT p.D340G NM_001824 NP_001815 P06732 KCRM_HUMAN muscle creatine kinase 340 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity skin(1) 1 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GCCCAGCCGATCAGCGTTGGA 0.582 NA 57 116 0 0 0 0 VASP 7408 broad.mit.edu 37 19 46027399 46027399 + Missense_Mutation SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:46027399A>T uc002pcg.2 + 10 1297 c.955A>T c.(955-957)AGG>TGG p.R319W VASP_uc010eki.2_Missense_Mutation_p.R153W|VASP_uc002pci.2_Missense_Mutation_p.R305W NM_003370 NP_003361 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 319 EVH2. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) AACCTTGCCAAGGTAGGCCAT 0.323 NA OREG0025556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 29 0 0 0 0 MYH14 79784 broad.mit.edu 37 19 50713685 50713685 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:50713685C>T uc002prr.1 + 2 110 c.63C>T c.(61-63)CCC>CCT p.P21P MYH14_uc010enu.1_Silent_p.P21P|MYH14_uc002prq.1_Silent_p.P21P NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 21 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCCCAGTGCCCGAGGCGGCCC 0.756 NA 5 1 0 0 0 0 ZNF845 91664 broad.mit.edu 37 19 53854940 53854940 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:53854940C>G uc010ydv.1 + 4 1129 c.1012C>G c.(1012-1014)CAA>GAA p.Q338E ZNF845_uc010ydw.1_Missense_Mutation_p.Q338E NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 338 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GACCTTCAGTCAAACGTCATA 0.388 NA 29 50 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54401792 54401792 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:54401792G>C uc002qcq.1 + 11 1473 c.1191G>C c.(1189-1191)CTG>CTC p.L397L PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Silent_p.L397L|PRKCG_uc010yeh.1_Silent_p.L284L NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 397 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACTGCACGCTGGTGGAGAAAC 0.637 NA 13 19 0 0 0 0 KIF3C 3797 broad.mit.edu 37 2 26203809 26203809 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:26203809G>C uc002rgu.2 - 1 1635 c.978C>G c.(976-978)CTC>CTG p.L326L KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.L326L NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 326 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGAGTCCTGGAGCAGCCGGG 0.607 NA 22 46 0 0 0 0 PRKD3 23683 broad.mit.edu 37 2 37506980 37506980 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:37506980C>T uc002rqd.2 - 7 1636 c.1081G>A c.(1081-1083)GAA>AAA p.E361K PRKD3_uc002rqe.1_5'Flank|PRKD3_uc002rqf.1_Missense_Mutation_p.E361K NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 361 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) GATGGCTCTTCTGTGTCATCC 0.398 NA 50 49 0 0 0 0 ABCG8 64241 broad.mit.edu 37 2 44099198 44099198 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:44099198C>T uc002rtq.2 + 7 1138 c.1048C>T c.(1048-1050)CTA>TTA p.L350L ABCG8_uc010yoa.1_Silent_p.L350L NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 350 Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGCCCTGTTTCTAGAAAAAGT 0.537 NA 48 72 0 0 0 0 LRPPRC 10128 broad.mit.edu 37 2 44162018 44162018 + Splice_Site SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:44162018C>A uc002rtr.2 - 24 2563 c.2505_splice c.e24-1 p.K835_splice LRPPRC_uc010yob.1_Splice_Site_p.K735_splice NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TAGGTCGCCCCTTAGAAACAA 0.328 NA 23 38 2.22e-12 2.82e-12 1 0 EFEMP1 2202 broad.mit.edu 37 2 56149558 56149558 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:56149558G>A uc002rzh.2 - 2 348 c.18C>T c.(16-18)TTC>TTT p.F6F EFEMP1_uc002rzi.2_Silent_p.F6F|EFEMP1_uc002rzj.2_Silent_p.F6F|EFEMP1_uc010ypc.1_5'UTR NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 6 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCATAGTTAGGAAAAGGGCTT 0.428 NA 66 71 0 0 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626706 108626706 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:108626706G>A uc002tdv.2 + 9 1408 c.1132G>A c.(1132-1134)GTT>ATT p.V378I SLC5A7_uc010ywm.1_Missense_Mutation_p.V131I|SLC5A7_uc010fjj.2_Missense_Mutation_p.V378I|SLC5A7_uc010ywn.1_Missense_Mutation_p.V265I NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 378 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.V378I(1) ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CAAAGAAATCGTTTGGGTTAT 0.443 NA 42 60 0 0 0 0 LY75 4065 broad.mit.edu 37 2 160663608 160663608 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:160663608G>C uc002ubc.3 - 34 4935 c.4866C>G c.(4864-4866)GTC>GTG p.V1622V LY75_uc002ubb.3_Silent_p.V1622V|LY75_uc010fos.2_Intron NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1622 Extracellular (Potential).|C-type lectin 10. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TTTCCCATTTGACAAATGTCA 0.343 NA 15 40 0 0 0 0 ITGB6 3694 broad.mit.edu 37 2 160994637 160994637 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:160994637C>T uc002ubh.2 - 9 1197 c.1181G>A c.(1180-1182)TGT>TAT p.C394Y ITGB6_uc010fou.2_Missense_Mutation_p.C394Y|ITGB6_uc010zcq.1_Missense_Mutation_p.C352Y|ITGB6_uc010fov.1_Missense_Mutation_p.C394Y NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 394 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 ACCGTTGTTACAGATGGCTGT 0.428 NA 6 134 0 0 0 0 KLHL23 151230 broad.mit.edu 37 2 170591601 170591601 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:170591601T>C uc002ufh.1 + 4 415 c.77T>C c.(76-78)TTC>TCC p.F26S KLHL23_uc002ufi.1_Missense_Mutation_p.F26S NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 26 0 CTGGATGCATTCAGAACATTT 0.363 NA 5 118 0 0 0 0 ITGA4 3676 broad.mit.edu 37 2 182387035 182387035 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:182387035C>T uc002unu.2 + 18 2803 c.2040C>T c.(2038-2040)CCC>CCT p.P680P ITGA4_uc010frj.1_Silent_p.P162P|ITGA4_uc002unv.2_5'UTR NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 680 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCAAACTACCCGTGGGTCTTT 0.338 NA 25 47 0 0 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801843 185801843 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:185801843G>T uc002uph.2 + 4 2314 c.1720G>T c.(1720-1722)GAT>TAT p.D574Y NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 574 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GGACACTCTAGATGAAAAATA 0.299 NA 20 42 3.62e-10 4.58e-10 1 0 RAB17 64284 broad.mit.edu 37 2 238483689 238483689 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:238483689C>T uc002vwz.1 - 6 1256 c.612G>A c.(610-612)GCG>GCA p.A204A RAB17_uc002vxa.1_RNA|RAB17_uc002vxb.1_RNA NM_022449 NP_071894 Q9H0T7 RAB17_HUMAN RAB17, member RAS oncogene family 204 protein transport|small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|protein binding 0 Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221) Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026) TGGCCTGCCTCGCGGGCCCCT 0.642 NA 30 39 0 0 0 0 FARP2 9855 broad.mit.edu 37 2 242380775 242380775 + Silent SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:242380775C>G uc002wbi.1 + 13 1332 c.1215C>G c.(1213-1215)GCC>GCG p.A405A FARP2_uc010zoq.1_Silent_p.A405A|FARP2_uc010zor.1_Silent_p.A405A|uc002wbj.2_5'Flank NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 405 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CAGCGAATGCCTTTTACTCGC 0.502 NA 27 56 0 0 0 0 C20orf27 54976 broad.mit.edu 37 20 3739186 3739186 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:3739186G>C uc002wji.1 - 3 388 c.159C>G c.(157-159)GTC>GTG p.V53V C20orf27_uc002wjf.1_Silent_p.V78V|C20orf27_uc002wjh.1_Silent_p.V78V NM_001039140 NP_001034229 Q9GZN8 CT027_HUMAN hypothetical protein LOC54976 53 0 CATGTACCTTGACCAGAAAGC 0.587 NA 7 142 0 0 0 0 RIN2 54453 broad.mit.edu 37 20 19937366 19937366 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:19937366G>A uc002wro.1 + 3 302 c.266G>A c.(265-267)CGG>CAG p.R89Q RIN2_uc010gcu.1_Missense_Mutation_p.R89Q|RIN2_uc010gcv.1_5'UTR NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 89 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 ATCTTGGACCGGCTCCTCCAC 0.607 NA 4 29 0 0 0 0 ENTPD6 955 broad.mit.edu 37 20 25197285 25197285 + Silent SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:25197285C>A uc002wuj.2 + 8 891 c.711C>A c.(709-711)GGC>GGA p.G237G ENTPD6_uc010zsy.1_Silent_p.G237G|ENTPD6_uc010gdj.1_Silent_p.G209G|ENTPD6_uc010zsz.1_Silent_p.G19G|ENTPD6_uc002wum.2_Silent_p.G220G|ENTPD6_uc010zta.1_Silent_p.G237G|ENTPD6_uc002wun.2_Silent_p.G237G|ENTPD6_uc002wuk.2_Silent_p.G236G|ENTPD6_uc002wul.2_Silent_p.G236G|ENTPD6_uc010ztb.1_Silent_p.G209G|ENTPD6_uc010ztc.1_Silent_p.G209G|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_Silent_p.G19G NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 237 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 GTGCTCCAGGCAGCTTGAAAA 0.572 NA 9 17 4.69e-08 5.81e-08 1 0 DEFB116 245930 broad.mit.edu 37 20 29891043 29891043 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:29891043G>T uc010ztm.1 - 2 281 c.281C>A c.(280-282)ACA>AAA p.T94K NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN beta-defensin 116 precursor 94 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGAACTGTTTGTAACTGACAA 0.383 NA 83 183 3.76e-38 5.08e-38 1 0 SUN5 140732 broad.mit.edu 37 20 31587898 31587898 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:31587898G>C uc002wyi.2 - 5 415 c.322C>G c.(322-324)CTG>GTG p.L108V NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 108 spermatogenesis skin(1) 1 CAGAGGAGCAGAATGCCTGTC 0.483 NA 13 71 0 0 0 0 PHF20 51230 broad.mit.edu 37 20 34505531 34505531 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:34505531G>A uc002xek.1 + 13 2062 c.1951G>A c.(1951-1953)GAG>AAG p.E651K NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) CTATGACTTCGAGGTGGTCCG 0.502 NA 21 52 0 0 0 0 SFRS6 6431 broad.mit.edu 37 20 42087030 42087030 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:42087030G>T uc010zwg.1 + 2 307 c.137G>T c.(136-138)CGC>CTC p.R46L SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.R46L NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 46 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GAGGACTCCCGCGACGCCGAC 0.721 NA 4 0 0.00024832 0.00028956 1 0 ZNF831 128611 broad.mit.edu 37 20 57769026 57769026 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:57769026G>T uc002yan.2 + 1 2952 c.2952G>T c.(2950-2952)CTG>CTT p.L984L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 984 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGTCAGGACTGGGGACCCCTC 0.632 NA 34 15 3.11e-16 4.07e-16 1 0 MORC3 23515 broad.mit.edu 37 21 37741537 37741537 + Nonsense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr21:37741537C>G uc002yvi.2 + 15 1947 c.1871C>G c.(1870-1872)TCA>TGA p.S624* NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 624 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 CAGACTGGTTCAACAAGCACC 0.448 NA 33 78 0 0 0 0 SLC37A1 54020 broad.mit.edu 37 21 43962541 43962541 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr21:43962541G>A uc002zbi.2 + 8 926 c.514G>A c.(514-516)GGC>AGC p.G172S SLC37A1_uc002zbj.2_Missense_Mutation_p.G172S NM_018964 NP_061837 P57057 GLPT_HUMAN solute carrier family 37 member 1 172 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane 0 GCAGACCACCGGCTGGCCCAG 0.577 NA 18 28 0 0 0 0 POTEH 23784 broad.mit.edu 37 22 16279295 16279295 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr22:16279295G>T uc010gqp.2 - 4 980 c.928C>A c.(928-930)CTC>ATC p.L310I POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.L29I|POTEH_uc002zlj.1_Missense_Mutation_p.L145I NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 310 ANK 5. skin(1) 1 AGTGGTGTGAGGCCATGCTGT 0.323 NA 36 510 2.22e-12 2.82e-12 1 0 ZNF280A 129025 broad.mit.edu 37 22 22868743 22868743 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr22:22868743C>T uc002zwe.2 - 2 1465 c.1212G>A c.(1210-1212)TCG>TCA p.S404S LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CAGCAAAGACCGACGATCTGT 0.413 NA 6 116 0 0 0 0 TCF20 6942 broad.mit.edu 37 22 42606032 42606032 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr22:42606032G>A uc003bcj.1 - 1 5414 c.5280C>T c.(5278-5280)TCC>TCT p.S1760S TCF20_uc003bck.1_Silent_p.S1760S|TCF20_uc003bnt.2_Silent_p.S1760S NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1760 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 TGTCCGTCTTGGAGCCATTAG 0.557 NA 42 88 0 0 0 0 EDEM1 9695 broad.mit.edu 37 3 5246816 5246816 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:5246816G>A uc003bqi.2 + 6 1239 c.1107G>A c.(1105-1107)CTG>CTA p.L369L EDEM1_uc011asz.1_Silent_p.L147L|EDEM1_uc003bqh.2_Silent_p.L369L NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 369 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GTGCCGGGCTGGACTCCTTCT 0.453 NA 62 29 0 0 0 0 GRIP2 80852 broad.mit.edu 37 3 14565164 14565164 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:14565164C>T uc011avi.1 - 6 736 c.736G>A c.(736-738)GTC>ATC p.V246I GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_Missense_Mutation_p.V149I NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 149 PDZ 2. synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 TAGAGGGAGACGTCCACTGTC 0.498 NA 7 3 0 0 0 0 DALRD3 55152 broad.mit.edu 37 3 49053902 49053902 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:49053902G>A uc003cvk.1 - 8 1126 c.1106C>T c.(1105-1107)ACC>ATC p.T369I DALRD3_uc003cvl.1_Missense_Mutation_p.T369I|DALRD3_uc003cvm.1_Missense_Mutation_p.T202I|DALRD3_uc010hko.1_Missense_Mutation_p.T202I|DALRD3_uc011bca.1_Missense_Mutation_p.T369I NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 369 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAACTTGATGGTGGCCACAGA 0.577 NA 22 8 0 0 0 0 CCDC36 339834 broad.mit.edu 37 3 49278823 49278823 + Splice_Site SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:49278823G>T uc003cwk.2 + 6 782 c.395_splice c.e6+1 p.S132_splice CCDC36_uc003cwl.3_Splice_Site_p.S132_splice|CCDC36_uc011bck.1_Splice_Site_p.S132_splice NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) AATGTGACAGGTATGTAAACC 0.343 NA 13 6 1.05e-09 1.32e-09 1 0 KIAA2018 205717 broad.mit.edu 37 3 113375182 113375182 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:113375182G>A uc003eam.2 - 7 5758 c.5347C>T c.(5347-5349)CCC>TCC p.P1783S KIAA2018_uc003eal.2_Missense_Mutation_p.P1727S NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1783 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 ATTGGTGGGGGGCCAGTGTTT 0.418 NA 99 260 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130425836 130425836 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:130425836C>G uc003enj.2 - 11 3258 c.2677G>C c.(2677-2679)GAG>CAG p.E893Q NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 893 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 GCAGAGGACTCGGAACGAGGA 0.502 NA 3 53 0 0 0 0 PIK3CB 5291 broad.mit.edu 37 3 138400825 138400825 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:138400825C>T uc011bmq.1 - 17 2488 c.2488G>A c.(2488-2490)GCT>ACT p.A830T PIK3CB_uc011bmn.1_Missense_Mutation_p.A342T|PIK3CB_uc011bmo.1_Missense_Mutation_p.A281T|PIK3CB_uc011bmp.1_Missense_Mutation_p.A417T NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 830 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 TCCAAACCAGCTTCTTTCCAG 0.363 NA 17 37 0 0 0 0 MRPS22 56945 broad.mit.edu 37 3 139069822 139069822 + Missense_Mutation SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:139069822A>G uc003etb.2 + 5 660 c.652A>G c.(652-654)ATG>GTG p.M218V MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.M217V|MRPS22_uc003ete.2_Missense_Mutation_p.M177V NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 218 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 GTTTTAGACTATGTATAGCCA 0.468 NA 29 86 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 13 79 0 0 0 0 DVL3 1857 broad.mit.edu 37 3 183885748 183885748 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:183885748C>T uc003fms.2 + 13 1533 c.1393C>T c.(1393-1395)CGC>TGC p.R465C DVL3_uc011bqw.1_Missense_Mutation_p.R448C|DVL3_uc003fmt.2_Missense_Mutation_p.R136C|DVL3_uc003fmu.2_Missense_Mutation_p.R297C NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 465 DEP. R -> P (in Ref. 1; AAB47447). canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GAGGGAGGCCCGCAAGTATGC 0.577 NA 41 117 0 0 0 0 ABCF3 55324 broad.mit.edu 37 3 183907447 183907447 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:183907447C>T uc003fmz.2 + 13 1349 c.1216C>T c.(1216-1218)CGG>TGG p.R406W ABCF3_uc003fna.2_Missense_Mutation_p.R400W|ABCF3_uc003fnb.2_Missense_Mutation_p.R87W NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 406 ABC transporter 1. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGATGGTTACCGGGGAGACTT 0.572 NA 20 41 0 0 0 0 PIGG 54872 broad.mit.edu 37 4 499519 499519 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:499519G>A uc003gak.3 + 3 509 c.373G>A c.(373-375)GGG>AGG p.G125R PIGG_uc003gaj.3_Missense_Mutation_p.G125R|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.G36R|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.G3R|PIGG_uc003gam.2_Missense_Mutation_p.G36R|PIGG_uc003gan.2_Missense_Mutation_p.G36R NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 125 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 ATTGATGACGGGGAGCCTTCC 0.428 NA 3 50 0 0 0 0 DCAF16 54876 broad.mit.edu 37 4 17805431 17805431 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:17805431C>T uc003gpn.2 - 3 1395 c.334G>A c.(334-336)GAA>AAA p.E112K DCAF16_uc003gpo.2_RNA NM_017741 NP_060211 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 112 CUL4 RING ubiquitin ligase complex ovary(1) 1 GGGGGCCATTCAGGAATTGGT 0.493 NA 64 55 0 0 0 0 TLR1 7096 broad.mit.edu 37 4 38798908 38798908 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:38798908C>A uc003gtl.2 - 4 1819 c.1545G>T c.(1543-1545)AAG>AAT p.K515N NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 515 Extracellular (Potential). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 TTGACCTCATCTTCTGGCAGC 0.433 NA 121 37 1.51e-44 2.05e-44 1 0 ATP8A1 10396 broad.mit.edu 37 4 42618055 42618055 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:42618055G>A uc003gwr.2 - 5 636 c.404C>T c.(403-405)ACG>ATG p.T135M ATP8A1_uc003gws.2_Missense_Mutation_p.T135M|ATP8A1_uc011byz.1_Missense_Mutation_p.T135M NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 135 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) CCTACCTTGCGTTTGTTTCTT 0.284 NA 23 10 0 0 0 0 GRSF1 2926 broad.mit.edu 37 4 71702029 71702029 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:71702029C>T uc010iia.1 - 2 443 c.360G>A c.(358-360)GAG>GAA p.E120E GRSF1_uc011caz.1_Silent_p.E2E|GRSF1_uc003hfs.2_5'UTR NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 120 mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) TAGTTTTGGACTCCTTCCAAA 0.368 NA 29 53 0 0 0 0 PPEF2 5470 broad.mit.edu 37 4 76813090 76813090 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:76813090A>C uc003hix.2 - 3 454 c.97T>G c.(97-99)TAC>GAC p.Y33D PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.Y33D NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 33 IQ. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CGGGCCACGTAGCGCCGGTAC 0.577 NA 28 72 0 0 0 0 PDLIM5 10611 broad.mit.edu 37 4 95376534 95376534 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:95376534G>A uc003hti.2 + 2 246 c.95G>A c.(94-96)AGT>AAT p.S32N PDLIM5_uc003htf.2_Missense_Mutation_p.S32N|PDLIM5_uc003htg.2_Missense_Mutation_p.S32N|PDLIM5_uc011cdx.1_Missense_Mutation_p.S32N|PDLIM5_uc003hth.2_Missense_Mutation_p.S32N|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Missense_Mutation_p.S32N|PDLIM5_uc011cdy.1_5'UTR NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 32 PDZ. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) ACAATCTCTAGTGTAAGTAAA 0.428 NA 15 11 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:153247289G>C uc003ims.2 - 10 1662 c.1513C>G c.(1513-1515)CGC>GGC p.R505G FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468 NA Mis|N|D|F colorectal|endometrial|T-ALL 55 17 0 0 0 0 VEGFC 7424 broad.mit.edu 37 4 177605120 177605120 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:177605120C>T uc003ius.1 - 7 1650 c.1220G>A c.(1219-1221)CGT>CAT p.R407H NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 407 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AGGGACACAACGACACACTTC 0.418 NA 28 59 0 0 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184366790 184366790 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:184366790G>A uc003ivp.1 + 2 537 c.375G>A c.(373-375)GTG>GTA p.V125V CDKN2AIP_uc003ivq.1_Intron NM_017632 NP_060102 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 125 negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding 0 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TTGCCAAGGTGAAGAAAAGAG 0.363 NA 17 8 0 0 0 0 CCT5 22948 broad.mit.edu 37 5 10256236 10256236 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:10256236G>A uc003jeq.2 + 4 672 c.501G>A c.(499-501)CAG>CAA p.Q167Q CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Silent_p.Q167Q|CCT5_uc010its.2_Silent_p.Q167Q|CCT5_uc011cmr.1_Silent_p.Q112Q|CCT5_uc011cms.1_Silent_p.Q129Q|CCT5_uc011cmt.1_Silent_p.Q74Q NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 167 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 CCCTGATTCAGACAGCAAAAA 0.468 NA 22 26 0 0 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74801935 74801935 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:74801935T>C uc011csu.1 - 2 525 c.103A>G c.(103-105)AAC>GAC p.N35D COL4A3BP_uc003kds.2_Missense_Mutation_p.N35D|COL4A3BP_uc003kdt.2_Missense_Mutation_p.N163D|COL4A3BP_uc003kdu.2_Missense_Mutation_p.N35D NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 35 PH. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TGAATGTAGTTTGTCCACTGG 0.378 NA 26 4 0 0 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79770505 79770505 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:79770505G>A uc003kgr.3 + 18 4619 c.4317G>A c.(4315-4317)CAG>CAA p.Q1439Q ZFYVE16_uc003kgq.3_Silent_p.Q1439Q|ZFYVE16_uc003kgs.3_Silent_p.Q1439Q|ZFYVE16_uc003kgt.3_Silent_p.Q527Q|ZFYVE16_uc003kgu.3_Silent_p.Q191Q NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1439 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TAAAGGACCAGGATTTATCTA 0.333 NA 29 17 0 0 0 0 MEF2C 4208 broad.mit.edu 37 5 88018742 88018742 + Silent SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:88018742T>C uc003kjj.2 - 11 1774 c.1101A>G c.(1099-1101)GGA>GGG p.G367G MEF2C_uc003kji.2_Silent_p.G359G|MEF2C_uc003kjk.2_Silent_p.G367G|MEF2C_uc003kjm.2_Silent_p.G357G|MEF2C_uc003kjl.2_Silent_p.G377G NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 367 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TAGTGCAAGCTCTGTAGGAGG 0.463 NA HNSCC(66;0.2) 4 7 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89988434 89988434 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:89988434C>A uc003kju.2 + 32 7060 c.6964C>A c.(6964-6966)CAA>AAA p.Q2322K GPR98_uc003kjt.2_Missense_Mutation_p.Q28K|GPR98_uc003kjv.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2322 Calx-beta 16.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATCCAAGTGCAACTAACTGA 0.348 NA 9 4 0.00829132 0.00940253 1 0 APC 324 broad.mit.edu 37 5 112175991 112175991 + Nonsense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:112175991C>G uc010jby.2 + 16 5080 c.4700C>G c.(4699-4701)TCA>TGA p.S1567* APC_uc011cvt.1_Nonsense_Mutation_p.S1549*|APC_uc003kpz.3_Nonsense_Mutation_p.S1567*|APC_uc003kpy.3_Nonsense_Mutation_p.S1567*|APC_uc010jbz.2_Nonsense_Mutation_p.S1284*|APC_uc010jca.2_Nonsense_Mutation_p.S867* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1567 Ser-rich.|Asp/Glu-rich (acidic). canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTAGATGATTCAGATGATGAT 0.358 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 32 16 0 0 0 0 KIF3A 11127 broad.mit.edu 37 5 132052070 132052070 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:132052070T>C uc003kxo.2 - 7 975 c.821A>G c.(820-822)AAT>AGT p.N274S KIF3A_uc003kxn.2_Missense_Mutation_p.N233S|KIF3A_uc011cxf.1_Missense_Mutation_p.N274S|KIF3A_uc003kxp.2_Missense_Mutation_p.N274S NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 274 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGTGAAAGATTGATTTTTGT 0.398 NA 3 80 0 0 0 0 SLC23A1 9963 broad.mit.edu 37 5 138707837 138707837 + Missense_Mutation SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:138707837A>G uc003leh.2 - 14 1752 c.1655T>C c.(1654-1656)ATA>ACA p.I552T SLC23A1_uc003leg.2_Missense_Mutation_p.I556T NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 552 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) TCTTTTTACTATGCCCATCCC 0.443 NA 43 47 0 0 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580820 140580820 + Silent SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:140580820C>A uc003liy.2 + 1 1473 c.1473C>A c.(1471-1473)CTC>CTA p.L491L PCDHB11_uc011daj.1_Silent_p.L126L NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 491 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCTACTCCCGCCCCAGG 0.642 NA 85 117 1.32e-40 1.79e-40 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140763371 140763371 + Nonsense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:140763371C>A uc003lka.1 + 1 905 c.905C>A c.(904-906)TCA>TAA p.S302* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.S302* NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 302 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAAATATCAACTTTAGAA 0.403 NA 19 36 7.08e-05 8.41e-05 1 0 FAM8A1 51439 broad.mit.edu 37 6 17600920 17600920 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:17600920G>A uc003ncc.2 + 1 403 c.280G>A c.(280-282)GAG>AAG p.E94K NM_016255 NP_057339 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 94 integral to membrane 0 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GGCGGGCTGCGAGGCGCCCGA 0.731 NA 18 11 0 0 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452390 26452390 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:26452390G>T uc003nhz.2 + 11 1686 c.1506G>T c.(1504-1506)TTG>TTT p.L502F BTN3A3_uc003nia.2_Missense_Mutation_p.L460F|BTN3A3_uc011dkn.1_Missense_Mutation_p.L453F NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 502 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane 0 TCAGAATTTTGACCTTGGAGC 0.488 NA 43 123 7.53e-24 1e-23 1 0 TRIM27 5987 broad.mit.edu 37 6 28871930 28871930 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:28871930G>C uc003nlr.2 - 8 1818 c.1459C>G c.(1459-1461)CTG>GTG p.L487V TRIM27_uc003nls.2_3'UTR|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 487 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 CAGATGATCAGAGGAGCTGCA 0.527 NA T RET papillary thyroid 57 63 0 0 0 0 TRIM40 135644 broad.mit.edu 37 6 30105123 30105123 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:30105123G>A uc003npk.2 + 2 696 c.310G>A c.(310-312)GAA>AAA p.E104K TRIM40_uc003npl.1_RNA|TRIM40_uc003npm.2_Missense_Mutation_p.E104K NM_138700 NP_619645 Q6P9F5 TRI40_HUMAN tripartite motif-containing 40 104 B box-type. intracellular zinc ion binding ovary(1) 1 GTCTCATCATGAACTGACCAT 0.552 NA 61 76 0 0 0 0 PRR3 80742 broad.mit.edu 37 6 30530165 30530165 + Splice_Site SNP G G T rs79542230 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:30530165G>T uc003nqi.1 + 4 827 c.461_splice c.e4-1 p.D154_splice PRR3_uc003nqj.1_Splice_Site_p.D133_splice NM_025263 NP_079539 P79522 PRR3_HUMAN proline-rich protein 3 isoform a nucleic acid binding|zinc ion binding 0 CTTGTTCACAGACAAATCCGA 0.453 NA 77 199 7.63e-38 1.03e-37 1 0 DHX16 8449 broad.mit.edu 37 6 30624230 30624230 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:30624230G>T uc003nqz.2 - 15 2580 c.2368C>A c.(2368-2370)CTG>ATG p.L790M DHX16_uc003nqy.2_Missense_Mutation_p.L309M|DHX16_uc011dmo.1_Missense_Mutation_p.L730M NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 790 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 AAAGCCAGCAGCAGTGTCTCA 0.547 NA 11 51 0.000673444 0.000779777 1 0 HTR1B 3351 broad.mit.edu 37 6 78172918 78172918 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:78172918G>A uc003pil.1 - 1 203 c.203C>T c.(202-204)GCC>GTC p.A68V NM_000863 NP_000854 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B 68 Helical; Name=1; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity 0 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) AATCACAAAGGCATTGGAGAG 0.562 NA 74 121 0 0 0 0 SLC35F1 222553 broad.mit.edu 37 6 118556746 118556746 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:118556746G>T uc003pxx.3 + 3 625 c.424G>T c.(424-426)GCA>TCA p.A142S NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 142 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) AGACCTGGAAGCAAATTATCT 0.423 NA 23 37 1.28e-07 1.58e-07 1 0 TCF21 6943 broad.mit.edu 37 6 134210616 134210616 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:134210616G>A uc003qei.3 + 1 357 c.81G>A c.(79-81)TCG>TCA p.S27S uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.S27S NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 27 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) AAATGGATTCGAACAAGGAAT 0.562 NA 44 57 0 0 0 0 FBXO30 84085 broad.mit.edu 37 6 146126431 146126431 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:146126431C>T uc003qla.2 - 2 1310 c.1111G>A c.(1111-1113)GAC>AAC p.D371N uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 371 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) TCCCCTAAGTCTACTTTTTTC 0.388 NA 53 76 0 0 0 0 CARD11 84433 broad.mit.edu 37 7 2962348 2962348 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:2962348G>A uc003smv.2 - 17 2593 c.2189C>T c.(2188-2190)ACA>ATA p.T730I NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 730 PDZ. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTTGGTGCATGTGTCCAACGG 0.622 NA Mis DLBCL 7 48 0 0 0 0 RADIL 55698 broad.mit.edu 37 7 4917456 4917456 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:4917456C>T uc003snj.1 - 2 488 c.315G>A c.(313-315)AGG>AGA p.R105R RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 105 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GGCCGGCCTGCCTGGGGTCCA 0.682 NA 38 74 0 0 0 0 FSCN1 6624 broad.mit.edu 37 7 5632776 5632776 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:5632776T>A uc003sou.2 + 1 323 c.209T>A c.(208-210)CTG>CAG p.L70Q NM_003088 NP_003079 Q16658 FSCN1_HUMAN fascin 1 70 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging ovary(1) 1 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) GGCCGCTACCTGGCGGCGGAC 0.706 NA 4 10 0 0 0 0 RSPH10B2 728194 broad.mit.edu 37 7 5968017 5968017 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:5968017C>T uc003sph.1 - 20 2513 c.2242G>A c.(2242-2244)GAG>AAG p.E748K RSPH10B2_uc003spg.1_Missense_Mutation_p.E595K|RSPH10B2_uc010ktd.1_Missense_Mutation_p.E748K|RSPH10B2_uc011jwk.1_Missense_Mutation_p.M369I NM_173565 NP_775836 B2RC85 R10B2_HUMAN radial spoke head 10 homolog B 748 ovary(1)|pancreas(1)|skin(1) 3 TTGGGTCTCTCATATTTCTCT 0.443 NA 67 172 0 0 0 0 AOAH 313 broad.mit.edu 37 7 36633994 36633994 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:36633994C>G uc003tfh.3 - 12 1290 c.889G>C c.(889-891)GAC>CAC p.D297H AOAH_uc010kxf.2_Missense_Mutation_p.D297H|AOAH_uc011kba.1_Missense_Mutation_p.D265H NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 297 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 TGGGGCCAGTCAAGCTCGTTG 0.408 NA 31 79 0 0 0 0 RFC2 5982 broad.mit.edu 37 7 73649972 73649972 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:73649972G>A uc003uaj.2 - 10 869 c.844C>T c.(844-846)CTT>TTT p.L282F RFC2_uc011kfa.1_RNA|RFC2_uc003uak.2_Missense_Mutation_p.L248F|RFC2_uc010lbp.2_Missense_Mutation_p.L211F|RFC2_uc003ual.2_Missense_Mutation_p.L181F NM_181471 NP_852136 P35250 RFC2_HUMAN replication factor C 2 isoform 1 282 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding liver(1)|central_nervous_system(1) 2 AAGTGAGCAAGAATCTAGACA 0.448 NA 37 64 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82584860 82584860 + Silent SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:82584860A>G uc003uhx.2 - 5 5698 c.5409T>C c.(5407-5409)TCT>TCC p.S1803S PCLO_uc003uhv.2_Silent_p.S1803S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1734 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATTTTTTACTAGAACTCTTTC 0.378 NA 60 81 0 0 0 0 CCDC132 55610 broad.mit.edu 37 7 92869194 92869194 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:92869194C>G uc003umo.2 + 2 177 c.49C>G c.(49-51)CAA>GAA p.Q17E CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_5'UTR|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.Q17E|CCDC132_uc003umn.2_Missense_Mutation_p.Q17E NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 17 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GAAAAGCCCTCAAGAAAGCCT 0.378 NA 62 113 0 0 0 0 TAF6 6878 broad.mit.edu 37 7 99711345 99711345 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:99711345G>A uc003uti.2 - 4 372 c.291C>T c.(289-291)GCC>GCT p.A97A TAF6_uc003utg.2_Silent_p.A38A|TAF6_uc003uth.2_Silent_p.A154A|TAF6_uc003utk.2_Silent_p.A97A|TAF6_uc011kji.1_Silent_p.A134A|TAF6_uc003utj.2_Silent_p.A87A|TAF6_uc003utl.2_Silent_p.A97A|TAF6_uc003utm.2_Silent_p.A97A|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 97 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCCACCAGAGGCGAAGCGGA 0.607 NA 5 29 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100677499 100677499 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:100677499G>A uc003uxp.1 + 3 2855 c.2802G>A c.(2800-2802)ACG>ACA p.T934T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 934 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACAGCACCACGCCGGTAGTCA 0.512 NA 257 346 0 0 0 0 EXOC4 60412 broad.mit.edu 37 7 133689722 133689722 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:133689722G>T uc003vrk.2 + 16 2441 c.2406G>T c.(2404-2406)GTG>GTT p.V802V EXOC4_uc011kpo.1_Silent_p.V701V|EXOC4_uc003vrl.2_Silent_p.V412V|EXOC4_uc011kpp.1_Silent_p.V334V|EXOC4_uc011kpq.1_Silent_p.V90V NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 802 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) ATGCCATTGTGGCTAATGTGG 0.463 NA 7 99 2.01e-06 2.45e-06 1 0 UBN2 254048 broad.mit.edu 37 7 138968956 138968956 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:138968956G>C uc011kqr.1 + 15 3305 c.3305G>C c.(3304-3306)AGC>ACC p.S1102T NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 1102 Ser-rich. ovary(1)|skin(1) 2 GCCCAGGGTAGCCACTCCAGC 0.473 NA 59 66 0 0 0 0 HTR5A 3361 broad.mit.edu 37 7 154862903 154862903 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:154862903G>A uc003wlu.1 + 1 358 c.294G>A c.(292-294)CTG>CTA p.L98L uc011kvt.1_Silent_p.T37T|uc003wlt.2_Silent_p.T37T NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 98 Helical; Name=2; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGCTGAGCCTGGTGCACGAGC 0.672 NA 8 31 0 0 0 0 SGK223 157285 broad.mit.edu 37 8 8234394 8234394 + Nonsense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:8234394C>A uc003wsh.3 - 2 1525 c.1525G>T c.(1525-1527)GAG>TAG p.E509* NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 509 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TCACCTACCTCGGAGTTCTGG 0.652 NA 13 8 0.000219431 0.000256781 1 0 BAG4 9530 broad.mit.edu 37 8 38034614 38034614 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:38034614G>A uc003xky.1 + 1 509 c.227G>A c.(226-228)GGA>GAA p.G76E LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Missense_Mutation_p.G76E NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 76 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) TATCCCTCGGGAGGCGCCTGG 0.706 NA 21 6 0 0 0 0 XKR4 114786 broad.mit.edu 37 8 56270346 56270346 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:56270346G>T uc003xsf.2 + 2 947 c.915G>T c.(913-915)CTG>CTT p.L305L NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 305 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TGAGTATGCTGCATTTGCTAG 0.473 NA 43 37 2.2e-31 2.94e-31 1 0 CLVS1 157807 broad.mit.edu 37 8 62212732 62212732 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:62212732C>T uc003xuh.2 + 2 670 c.346C>T c.(346-348)CCC>TCC p.P116S CLVS1_uc003xug.2_Missense_Mutation_p.P116S|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.P116S NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 116 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 GGCAGATGATCCCGGCATTAA 0.507 NA 21 60 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 68934274 68934274 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:68934274G>A uc003xxv.1 + 4 367 c.340G>A c.(340-342)GAC>AAC p.D114N PREX2_uc003xxu.1_Missense_Mutation_p.D114N|PREX2_uc011lez.1_Missense_Mutation_p.D49N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 114 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TTCACAGAAAGACAAGTTTCG 0.259 NA 19 29 0 0 0 0 E2F5 1875 broad.mit.edu 37 8 86121536 86121536 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:86121536C>G uc003ycz.3 + 6 812 c.775C>G c.(775-777)CCA>GCA p.P259A E2F5_uc003yda.3_Missense_Mutation_p.P259A|E2F5_uc010mab.2_Missense_Mutation_p.P98A|E2F5_uc003ydb.3_Missense_Mutation_p.P78A NM_001951 NP_001942 Q15329 E2F5_HUMAN E2F transcription factor 5 isoform 1 259 G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 GTCCTTGACTCCAGTGACTCC 0.488 NA 5 94 0 0 0 0 PSKH2 85481 broad.mit.edu 37 8 87076791 87076791 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:87076791G>T uc011lfy.1 - 2 255 c.255C>A c.(253-255)ACC>ACA p.T85T NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 85 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) AAGGTTTCTTGGTGGTCTTCT 0.483 NA 28 109 8.58e-18 1.13e-17 1 0 FAM82B 51115 broad.mit.edu 37 8 87519250 87519250 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:87519250G>A uc003ydu.2 - 2 381 c.221C>T c.(220-222)GCT>GTT p.A74V FAM82B_uc011lfz.1_Missense_Mutation_p.A74V|FAM82B_uc011lga.1_Missense_Mutation_p.A74V NM_016033 NP_057117 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 74 microtubule|spindle pole binding ovary(1) 1 AACCACAGCAGCCTGAGAGAT 0.368 NA 93 150 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 92999130 92999130 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:92999130C>A uc003yfd.2 - 7 1146 c.1062G>T c.(1060-1062)TGG>TGT p.W354C RUNX1T1_uc003yfc.1_Missense_Mutation_p.W327C|RUNX1T1_uc003yfe.1_Missense_Mutation_p.W317C|RUNX1T1_uc010mao.2_Missense_Mutation_p.W327C|RUNX1T1_uc011lgi.1_Missense_Mutation_p.W365C|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.W317C NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 354 Important for oligomerization. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAAGATGTTTCCACTCTTCTG 0.378 NA 6 215 0.00116845 0.00134585 1 0 FAM92A1 137392 broad.mit.edu 37 8 94713483 94713483 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:94713483G>T uc010maq.2 + 2 161 c.58G>T c.(58-60)GTC>TTC p.V20F FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA NM_145269 NP_660312 A1XBS5 F92A1_HUMAN hypothetical protein LOC137392 20 0 Breast(36;2.4e-06) BRCA - Breast invasive adenocarcinoma(8;0.0168) GCAAACAGCTGTCTCAAATGT 0.453 NA 10 41 2.81e-09 3.52e-09 1 0 VPS13B 157680 broad.mit.edu 37 8 100513954 100513954 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:100513954G>A uc003yiv.2 + 26 4021 c.3910G>A c.(3910-3912)GAT>AAT p.D1304N VPS13B_uc003yiw.2_Missense_Mutation_p.D1304N|VPS13B_uc003yiu.1_Missense_Mutation_p.D1304N|VPS13B_uc003yix.1_Missense_Mutation_p.D774N NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1304 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) ACCATTCTCAGATTCTGTGAC 0.368 NA 95 129 0 0 0 0 EIF3E 3646 broad.mit.edu 37 8 109252300 109252300 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:109252300C>G uc003ymu.2 - 3 238 c.210G>C c.(208-210)TTG>TTC p.L70F EIF3E_uc003ymt.2_Missense_Mutation_p.L21F|EIF3E_uc003ymv.2_5'UTR|EIF3E_uc010mci.1_Missense_Mutation_p.L70F|EIF3E_uc010mcj.1_Missense_Mutation_p.L70F NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 70 Sufficient for interaction with TRIM27.|Sufficient for interaction with EPAS1. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) TTTTCTCTCTCAAAGCTAATT 0.358 NA 30 126 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113323395 113323395 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:113323395G>T uc003ynu.2 - 50 7856 c.7697C>A c.(7696-7698)GCT>GAT p.A2566D CSMD3_uc003yns.2_Missense_Mutation_p.A1768D|CSMD3_uc003ynt.2_Missense_Mutation_p.A2526D|CSMD3_uc011lhx.1_Missense_Mutation_p.A2462D|CSMD3_uc003ynw.1_Missense_Mutation_p.A277D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2566 CUB 14.|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 ACAGTAGAAAGCTTTTCAAAA 0.398 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 59 4.93e-13 6.34e-13 1 0 MYC 4609 broad.mit.edu 37 8 128753051 128753051 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:128753051G>C uc003ysi.2 + 3 1737 c.1212G>C c.(1210-1212)AAG>AAC p.K404N NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 389 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) ACAATGAAAAGGCCCCCAAGG 0.502 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL 64 305 0 0 0 0 ASAP1 50807 broad.mit.edu 37 8 131073299 131073299 + Silent SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:131073299T>C uc003yta.1 - 27 2746 c.2718A>G c.(2716-2718)ACA>ACG p.T906T ASAP1_uc003ysz.1_Silent_p.T717T|ASAP1_uc011liw.1_Silent_p.T899T NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 906 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 AGAGATGATCTGTTTTCCTTA 0.493 NA 83 271 0 0 0 0 OC90 729330 broad.mit.edu 37 8 133036916 133036916 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:133036916G>A uc003ytg.2 - 13 1246 c.1246C>T c.(1246-1248)CTC>TTC p.L416F OC90_uc011lix.1_Missense_Mutation_p.L416F NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 432 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGGCACCCGAGTCTGCTTGGG 0.627 NA 10 36 0 0 0 0 KDM4C 23081 broad.mit.edu 37 9 6805612 6805612 + Missense_Mutation SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:6805612A>T uc003zkh.2 + 3 738 c.158A>T c.(157-159)AAG>ATG p.K53M KDM4C_uc010mhu.2_Missense_Mutation_p.K75M|KDM4C_uc010mhw.2_Missense_Mutation_p.K53M|KDM4C_uc011lmi.1_Missense_Mutation_p.K53M|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.K53M|KDM4C_uc011lmk.1_Intron|KDM4C_uc010mhv.2_Missense_Mutation_p.K53M NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 53 JmjN. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 ATTCCTCCTAAGGAGTGGAAG 0.358 NA 19 4 0 0 0 0 CYLC2 1539 broad.mit.edu 37 9 105767308 105767308 + Nonsense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:105767308C>G uc004bbs.2 + 5 465 c.395C>G c.(394-396)TCA>TGA p.S132* NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 132 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) GATTCGGAATCAGAATTAaaa 0.179 NA 6 27 0 0 0 0 PTPN3 5774 broad.mit.edu 37 9 112168829 112168829 + Missense_Mutation SNP C C G rs59324117 byFrequency TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:112168829C>G uc004bed.2 - 18 1817 c.1705G>C c.(1705-1707)GAA>CAA p.E569Q PTPN3_uc004beb.2_Missense_Mutation_p.E438Q|PTPN3_uc004bec.2_Missense_Mutation_p.E393Q|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.E524Q|PTPN3_uc011lwh.1_Missense_Mutation_p.E415Q|PTPN3_uc011lwd.1_Missense_Mutation_p.E37Q|PTPN3_uc011lwe.1_Missense_Mutation_p.E282Q|PTPN3_uc011lwf.1_Missense_Mutation_p.E237Q NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 569 PDZ. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 TGCGTGTGTTCTGAGATGTCC 0.557 NA 87 134 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899008 112899008 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:112899008G>A uc004bei.2 + 9 2072 c.1880G>A c.(1879-1881)CGA>CAA p.R627Q PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R395Q|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R395Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R205Q|AKAP2_uc011lwi.1_Missense_Mutation_p.R253Q|AKAP2_uc004bem.2_Missense_Mutation_p.R253Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R213Q|AKAP2_uc011lwj.1_Missense_Mutation_p.R164Q|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R164Q NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 164 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 TGTTCTTCCCGAGATGGAGAG 0.572 NA 47 9 0 0 0 0 DBC1 1620 broad.mit.edu 37 9 121929820 121929820 + Missense_Mutation SNP T T G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:121929820T>G uc004bkc.2 - 8 2284 c.1828A>C c.(1828-1830)ACA>CCA p.T610P NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 610 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TCGAAAAATGTTTTCCACCGA 0.557 NA 116 29 0 0 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212041 26212041 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chrX:26212041G>C uc004dbr.2 + 2 227 c.78G>C c.(76-78)ACG>ACC p.T26T MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 26 ovary(3) 3 AGGGTCTCACGGGTCCCCAGG 0.572 NA 30 16 0 0 0 0 MAGED1 9500 broad.mit.edu 37 X 51639730 51639730 + Nonsense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chrX:51639730C>T uc004dpm.2 + 4 1074 c.979C>T c.(979-981)CAG>TAG p.Q327* MAGED1_uc004dpn.2_Nonsense_Mutation_p.Q383*|MAGED1_uc004dpo.2_Nonsense_Mutation_p.Q327* NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 327 Pro-rich.|22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) TCCAGCTAGGCAGACCCCACC 0.602 NA Multiple Myeloma(10;0.10) 30 9 0 0 0 0 NRK 203447 broad.mit.edu 37 X 105179222 105179222 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chrX:105179222T>C uc004emd.2 + 21 3863 c.3560T>C c.(3559-3561)GTT>GCT p.V1187A NRK_uc010npc.1_Missense_Mutation_p.V855A NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1187 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GAAGTCAATGTTAACCCACTC 0.418 NA HNSCC(51;0.14) 61 26 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135439890 135439890 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chrX:135439890G>C uc004ezu.1 + 10 7246 c.6955G>C c.(6955-6957)GCT>CCT p.A2319P GPR112_uc010nsb.1_Missense_Mutation_p.A2114P|GPR112_uc010nsc.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2319 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACAAGAAATGGCTACAATTTC 0.348 NA 5 126 0 0 0 0 AHDC1 27245 broad.mit.edu 37 1 27875791 27875792 + Frame_Shift_Ins INS - - G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:27875791_27875792insG uc009vsy.2 - 6 3804_3805 c.2835_2836insC c.(2833-2838)CCCAAGfs p.P945fs AHDC1_uc009vsz.1_Frame_Shift_Ins_p.P945fs NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 945_946 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GGCACCAGCTTGGGGAAGGTCT 0.678 NA 56 33 --- --- --- --- NA NA NA NA SLC6A9 6536 broad.mit.edu 37 1 44467092 44467094 + In_Frame_Del DEL GAA GAA - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:44467092_44467094delGAA uc001cll.2 - 9 1579_1581 c.1387_1389delTTC c.(1387-1389)TTCdel p.F463del SLC6A9_uc009vxe.2_In_Frame_Del_p.F319del|SLC6A9_uc010okm.1_In_Frame_Del_p.F390del|SLC6A9_uc001clm.2_In_Frame_Del_p.F409del|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_In_Frame_Del_p.F394del|SLC6A9_uc001cln.2_In_Frame_Del_p.F390del|SLC6A9_uc010oko.1_In_Frame_Del_p.F279del|SLC6A9_uc010okp.1_RNA NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 463 Helical; Name=8; (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GGATAAGCATGAAGAAGAAGAGC 0.64 NA 29 68 --- --- --- --- NA NA NA NA SLITRK5 26050 broad.mit.edu 37 13 88328028 88328029 + Frame_Shift_Ins INS - - G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:88328028_88328029insG uc001vln.2 + 2 604_605 c.385_386insG c.(385-387)CGGfs p.R129fs SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 129 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCATGGGCTACGGGGTTTGAGG 0.45 NA 71 108 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577032 7577033 + Frame_Shift_Del DEL CC CC - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:7577032_7577033delCC uc002gim.2 - 8 1099_1100 c.905_906delGG c.(904-906)GGGfs p.G302fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.G302fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G170fs|TP53_uc010cng.1_Frame_Shift_Del_p.G170fs|TP53_uc002gii.1_Frame_Shift_Del_p.G170fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G302fs|TP53_uc010cni.1_Frame_Shift_Del_p.G302fs|TP53_uc002gij.2_Frame_Shift_Del_p.G302fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 302 Interaction with HIPK1 (By similarity).|Interaction with CARM1. G -> R (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in a sporadic cancer; somatic mutation).|G -> V (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.0?(7)|p.G302fs*4(4)|p.?(3)|p.G302E(3)|p.G302G(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.G302fs*2(1)|p.S303fs*42(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(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) GCTTAGTGCTCCCTGGGGGCAG 0.554 111 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) 43 70 --- --- --- --- NA NA NA NA AKAP1 8165 broad.mit.edu 37 17 55189196 55189197 + Frame_Shift_Ins INS - - T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:55189196_55189197insT uc002iux.2 + 4 2117_2118 c.1886_1887insT c.(1885-1887)TATfs p.Y629fs AKAP1_uc010wnl.1_Frame_Shift_Ins_p.Y629fs|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Frame_Shift_Ins_p.Y629fs NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 629 KH. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) CAGGGGCGCTATGTGAGTTTTC 0.48 NA 86 100 --- --- --- --- NA NA NA NA MARK4 57787 broad.mit.edu 37 19 45762300 45762300 + Frame_Shift_Del DEL C C - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:45762300delC uc002pbb.1 + 2 110 c.105delC c.(103-105)AGCfs p.S35fs MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Frame_Shift_Del_p.S35fs Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 35 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCTGGTCCAGCCGCTCACTGG 0.662 NA 16 28 --- --- --- --- NA NA NA NA ACSS2 55902 broad.mit.edu 37 20 33502206 33502206 + Frame_Shift_Del DEL C C - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:33502206delC uc002xbd.2 + 7 921 c.800delC c.(799-801)TCCfs p.S267fs ACSS2_uc002xbc.2_Frame_Shift_Del_p.S172fs|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Frame_Shift_Del_p.S267fs|ACSS2_uc002xbe.2_Intron|ACSS2_uc002xbf.2_Intron NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 267 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACCAGCCAGTCCCCCCCAATT 0.537 NA 20 64 --- --- --- --- NA NA NA NA ETV5 2119 broad.mit.edu 37 3 185797720 185797721 + Frame_Shift_Ins INS - - G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:185797720_185797721insG uc003fpz.2 - 7 782_783 c.535_536insC c.(535-537)CATfs p.H179fs ETV5_uc003fpy.2_Frame_Shift_Ins_p.H221fs NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 179 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) TGGAAGCGAATGGGGGGCGGGG 0.614 NA T TMPRSS2|SCL45A3 Prostate 40 181 --- --- --- --- NA NA NA NA RREB1 6239 broad.mit.edu 37 6 7211049 7211071 + Frame_Shift_Del DEL CCATGAGAAGGACCCTAACAGTG CCATGAGAAGGACCCTAACAGTG - rs145494137 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:7211049_7211071delCCATGAGAAGGACCCTAACAGTG uc003mxc.2 + 7 828_850 c.438_460delCCATGAGAAGGACCCTAACAGTG c.(436-462)ATCCATGAGAAGGACCCTAACAGTGCCfs p.I146fs RREB1_uc010jnw.2_Frame_Shift_Del_p.I146fs|RREB1_uc003mxb.2_Frame_Shift_Del_p.I146fs|RREB1_uc010jnx.2_Frame_Shift_Del_p.I146fs|RREB1_uc003mxd.2_Frame_Shift_Del_p.I146fs NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 146_154 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ATATGAAGATCCATGAGAAGGACCCTAACAGTGCCACAGCCAC 0.439 NA 12 87 --- --- --- --- NA NA NA NA HIST1H1B 3009 broad.mit.edu 37 6 27835121 27835121 + Frame_Shift_Del DEL C C - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:27835121delC uc003njx.2 - 1 239 c.187delG c.(187-189)GCAfs p.A63fs NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 63 H15. nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 TTAAGGGCTGCCAAAGAAAGG 0.607 NA 14 166 --- --- --- --- NA NA NA NA RP1L1 94137 broad.mit.edu 37 8 10467489 10467503 + In_Frame_Del DEL CTGCACCCCCTCTTC CTGCACCCCCTCTTC - rs146799763 by1000genomes TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:10467489_10467503delCTGCACCCCCTCTTC uc003wtc.2 - 4 4334_4348 c.4105_4119delGAAGAGGGGGTGCAG c.(4105-4119)GAAGAGGGGGTGCAGdel p.EEGVQ1369del NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1369_1373 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCct 0.307 NA 10 201 --- --- --- --- NA NA NA NA PLEC 5339 broad.mit.edu 37 8 144992466 144992479 + Frame_Shift_Del DEL GCTGGGCTCTGACA GCTGGGCTCTGACA - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:144992466_144992479delGCTGGGCTCTGACA uc003zaf.1 - 32 12091_12104 c.11921_11934delTGTCAGAGCCCAGC c.(11920-11934)CTGTCAGAGCCCAGCfs p.L3974fs PLEC_uc003zab.1_Frame_Shift_Del_p.L3837fs|PLEC_uc003zac.1_Frame_Shift_Del_p.L3841fs|PLEC_uc003zad.2_Frame_Shift_Del_p.L3837fs|PLEC_uc003zae.1_Frame_Shift_Del_p.L3805fs|PLEC_uc003zag.1_Frame_Shift_Del_p.L3815fs|PLEC_uc003zah.2_Frame_Shift_Del_p.L3823fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.L3864fs NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3974_3978 Plectin 21.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGCGCACCTCGCTGGGCTCTGACAGCTGGTCGTG 0.692 NA 9 26 --- --- --- --- NA NA NA NA LRRC19 64922 broad.mit.edu 37 9 26999638 26999640 + In_Frame_Del DEL ATA ATA - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:26999638_26999640delATA uc003zqh.2 - 2 164_166 c.53_55delTAT c.(52-57)TTATCA>TCA p.L18del IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron NM_022901 NP_075052 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 precursor 18 integral to membrane 0 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) ATTTTGTCTGATAATAATATCAT 0.291 NA 14 20 --- --- --- --- NA NA NA NA