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 NPHP4 261734 broad.mit.edu 37 1 5935081 5935081 + Missense_Mutation SNP C C A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:5935081C>A uc001alq.1 - 21 3163 c.2897G>T c.(2896-2898)AGC>ATC p.S966I NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 966 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GCTGGCGATGCTCTCGGCCTT 0.642 NA 4 27 1.24e-05 1.31e-05 1 0 EXOSC10 5394 broad.mit.edu 37 1 11151235 11151235 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:11151235G>A uc001asa.2 - 5 529 c.479C>T c.(478-480)GCA>GTA p.A160V EXOSC10_uc001asb.2_Missense_Mutation_p.A160V|EXOSC10_uc009vmy.1_Missense_Mutation_p.A160V NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 160 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) ATATTCTGCTGCCTATGATCA 0.353 NA 14 67 0 0 0 0 MFN2 9927 broad.mit.edu 37 1 12056346 12056346 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:12056346G>A uc001atn.3 + 5 898 c.445G>A c.(445-447)GAG>AAG p.E149K MFN2_uc009vni.2_Missense_Mutation_p.E149K NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 149 Cytoplasmic (Potential). blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TCTCCTTACCGAGGGCTCAGA 0.602 NA 6 44 0 0 0 0 GJB5 2709 broad.mit.edu 37 1 35223201 35223201 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:35223201C>T uc001bxu.2 + 2 370 c.270C>T c.(268-270)CTC>CTT p.L90L GJB4_uc001bxv.1_5'Flank NM_005268 NP_005259 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 90 Helical; (Potential). cell communication|epidermis development connexon complex|integral to membrane ovary(1) 1 Myeloproliferative disorder(586;0.0393) CCTCACTGCTCGTGGTCATGC 0.617 NA 17 69 0 0 0 0 LMO4 8543 broad.mit.edu 37 1 87805751 87805751 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:87805751C>T uc001dmi.2 + 4 1135 c.355C>T c.(355-357)CGG>TGG p.R119W LMO4_uc001dmj.2_Missense_Mutation_p.R119W NM_006769 NP_006760 P61968 LMO4_HUMAN LIM domain only 4 119 LIM zinc-binding 2. neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding 0 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) CTCTACCTGCCGGAATCGCCT 0.393 NA 25 113 0 0 0 0 PKN2 5586 broad.mit.edu 37 1 89279371 89279371 + Missense_Mutation SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:89279371T>C uc001dmn.2 + 16 2576 c.2234T>C c.(2233-2235)CTA>CCA p.L745P PKN2_uc010osp.1_Missense_Mutation_p.L729P|PKN2_uc010osq.1_Missense_Mutation_p.L588P|PKN2_uc009wcv.2_Missense_Mutation_p.L697P|PKN2_uc010osr.1_Missense_Mutation_p.L410P NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 745 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GGTGGGGACCTAATGATGCAC 0.408 NA 3 176 0 0 0 0 ABCA4 24 broad.mit.edu 37 1 94505666 94505666 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:94505666C>T uc001dqh.2 - 24 3644 c.3540G>A c.(3538-3540)TCG>TCA p.S1180S NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1180 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AACCCTTAGACGAGCAGCTGC 0.572 NA OREG0013610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 12 0 0 0 0 LPPR4 9890 broad.mit.edu 37 1 99771596 99771596 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:99771596C>T uc001dse.2 + 7 1428 c.1322C>T c.(1321-1323)TCC>TTC p.S441F LPPR4_uc010oue.1_Missense_Mutation_p.S383F NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 441 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TCTATGGATTCCGCTCGATCA 0.498 NA 18 75 0 0 0 0 ADORA3 140 broad.mit.edu 37 1 112031442 112031442 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:112031442G>A uc001ebf.2 - 3 1429 c.662C>T c.(661-663)ACT>ATT p.T221I ADORA3_uc001ebg.3_Missense_Mutation_p.T140I NM_020683 NP_065734 P33765 AA3R_HUMAN adenosine A3 receptor isoform 1 Error:Variant_position_missing_in_P33765_after_alignment activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GCAGGACATAGTGACAATGAG 0.532 NA 12 36 0 0 0 0 MAN1A2 10905 broad.mit.edu 37 1 117984891 117984891 + Silent SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:117984891C>G uc001ehd.1 + 6 1615 c.894C>G c.(892-894)CTC>CTG p.L298L MAN1A2_uc009whg.1_Silent_p.L88L NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 298 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) CTGAGAAACTCCTTCCTGCCT 0.343 NA 14 97 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145323663 145323663 + Missense_Mutation SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:145323663A>G uc001end.3 + 29 3760 c.3725A>G c.(3724-3726)AAG>AGG p.K1242R NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 1167 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGAATTAAAAAGGACGAAGAA 0.463 NA 6 772 0 0 0 0 FLG2 388698 broad.mit.edu 37 1 152331346 152331346 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:152331346C>G uc001ezw.3 - 2 88 c.15G>C c.(13-15)TTG>TTC p.L5F uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 5 S-100-like (By similarity). calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAACACTTCTCAAGAGGTCGG 0.393 NA 13 62 0 0 0 0 NUP210L 91181 broad.mit.edu 37 1 154029395 154029395 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:154029395C>G uc001fdw.2 - 23 3208 c.3136G>C c.(3136-3138)GAA>CAA p.E1046Q NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.E1046Q NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1046 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ATATAATTTTCAGAGTATTCG 0.343 NA 11 48 0 0 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154525286 154525286 + Missense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:154525286G>C uc001fff.1 - 6 831 c.740C>G c.(739-741)TCT>TGT p.S247C NM_017582 NP_060052 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q 247 ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CACCGAGCCAGACACTGCACC 0.562 NA 9 50 0 0 0 0 RXRG 6258 broad.mit.edu 37 1 165398095 165398095 + Missense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:165398095G>C uc001gda.2 - 2 458 c.158C>G c.(157-159)CCA>CGA p.P53R NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 53 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CAGAGTCCGTGGGGCACTCAC 0.617 NA 9 31 0 0 0 0 LHX4 89884 broad.mit.edu 37 1 180240979 180240979 + Nonsense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:180240979C>T uc001goe.1 + 5 839 c.616C>T c.(616-618)CAG>TAG p.Q206* uc001gof.1_RNA NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 206 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GGTTTGGTTTCAGAACAGAAG 0.607 NA 25 113 0 0 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306592 205306592 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:205306592C>T uc001hcf.1 - 6 1556 c.988G>A c.(988-990)GCC>ACC p.A330T KLHDC8A_uc010prg.1_Missense_Mutation_p.A217T|KLHDC8A_uc001hcg.1_Missense_Mutation_p.A330T NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 330 ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CCTCCCACGGCGAGGAGGCAG 0.597 NA 32 118 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228476582 228476582 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr1:228476582C>T uc009xez.1 + 38 10376 c.10332C>T c.(10330-10332)ACC>ACT p.T3444T OBSCN_uc001hsn.2_Silent_p.T3444T|OBSCN_uc001hsq.1_Silent_p.T700T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3444 Ig-like 34. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCACTCTCACCGTGAAGGGTA 0.612 NA 9 43 0 0 0 0 ITIH2 3698 broad.mit.edu 37 10 7774362 7774362 + Missense_Mutation SNP C C T rs150529114 TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr10:7774362C>T uc001ijs.2 + 14 1871 c.1709C>T c.(1708-1710)TCG>TTG p.S570L NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 570 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.S570L(1) ovary(1)|pancreas(1)|skin(1) 3 GATTTTCTATCGAAAGACAAG 0.488 NA 4 27 0 0 0 0 RET 5979 broad.mit.edu 37 10 43606744 43606744 + Silent SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr10:43606744G>A uc001jal.2 + 7 1543 c.1353G>A c.(1351-1353)ACG>ACA p.T451T RET_uc001jak.1_Silent_p.T451T|RET_uc010qez.1_Silent_p.T197T NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 451 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) ACTGCAGCACGCTAGGGGTGG 0.582 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 10 67 0 0 0 0 POLR3A 11128 broad.mit.edu 37 10 79760814 79760814 + Nonsense_Mutation SNP C C A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr10:79760814C>A uc001jzn.2 - 18 2492 c.2398G>T c.(2398-2400)GGA>TGA p.G800* NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 800 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GCCTGCTGTCCCACACAGGCA 0.443 NA 9 57 0.00448238 0.0046365 1 0 CEP55 55165 broad.mit.edu 37 10 95276830 95276830 + Missense_Mutation SNP A A T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr10:95276830A>T uc009xug.2 + 6 1000 c.818A>T c.(817-819)CAA>CTA p.Q273L CEP55_uc001kiq.3_Missense_Mutation_p.Q273L NM_001127182 NP_001120654 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 273 Potential. cell division|mitosis centriole|cleavage furrow|midbody 0 Colorectal(252;0.207) GAAGAAACCCAAAAAGAAGTT 0.358 NA 10 54 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95790868 95790868 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr10:95790868C>T uc001kjk.2 + 2 699 c.65C>T c.(64-66)GCC>GTC p.A22V PLCE1_uc010qnx.1_Missense_Mutation_p.A22V NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 22 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GTGGTTTCTGCCCAGTCGGCT 0.423 NA 3 51 0 0 0 0 FAM178A 55719 broad.mit.edu 37 10 102683830 102683830 + Missense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr10:102683830G>C uc001krt.3 + 5 1614 c.1072G>C c.(1072-1074)GAG>CAG p.E358Q FAM178A_uc001krr.1_Missense_Mutation_p.E358Q|FAM178A_uc001krs.2_Missense_Mutation_p.E358Q|FAM178A_uc001kru.1_Missense_Mutation_p.E293Q NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 358 0 AAAAGCAAGAGAGTCCTTCCT 0.398 NA 9 48 0 0 0 0 POLL 27343 broad.mit.edu 37 10 103339236 103339236 + Nonsense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr10:103339236G>A uc001ktg.1 - 8 2468 c.1702C>T c.(1702-1704)CGA>TGA p.R568* DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Nonsense_Mutation_p.R241*|POLL_uc001kte.1_Nonsense_Mutation_p.R260*|POLL_uc001kth.1_Nonsense_Mutation_p.R293*|POLL_uc001kti.1_Nonsense_Mutation_p.R568*|POLL_uc001ktj.1_Nonsense_Mutation_p.R568*|POLL_uc001ktf.2_Nonsense_Mutation_p.R476*|POLL_uc001ktk.1_Nonsense_Mutation_p.R307*|POLL_uc010qqa.1_Nonsense_Mutation_p.R307*|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Nonsense_Mutation_p.R568*|POLL_uc001ktl.2_Nonsense_Mutation_p.R480*|POLL_uc010qqc.1_Nonsense_Mutation_p.R260* NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 568 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GCAGGTTCTCGGTAGGGGAGG 0.647 NA DNA_polymerases_(catalytic_subunits) 14 49 0 0 0 0 ADAM12 8038 broad.mit.edu 37 10 127726869 127726869 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr10:127726869G>A uc001ljk.2 - 20 2712 c.2299C>T c.(2299-2301)CAC>TAC p.H767Y ADAM12_uc010qul.1_Missense_Mutation_p.H718Y NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 767 Cytoplasmic (Potential). cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TGGCCGAGGTGAGCCTGACAG 0.587 NA 3 18 0 0 0 0 OR51V1 283111 broad.mit.edu 37 11 5221401 5221401 + Missense_Mutation SNP T T A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:5221401T>A uc010qyz.1 - 1 530 c.530A>T c.(529-531)TAC>TTC p.Y177F NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAATGACAGTAATTAAAAAA 0.393 NA 18 64 0 0 0 0 APBB1 322 broad.mit.edu 37 11 6432243 6432243 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:6432243C>T uc001mdb.1 - 2 435 c.335G>A c.(334-336)GGC>GAC p.G112D APBB1_uc001mdc.1_Missense_Mutation_p.G112D|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 112 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GTGTATCAGGCCTTTGGGGCC 0.632 NA 45 182 0 0 0 0 USP47 55031 broad.mit.edu 37 11 11971469 11971469 + Missense_Mutation SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:11971469A>G uc001mjs.2 + 23 4145 c.3382A>G c.(3382-3384)AAA>GAA p.K1128E USP47_uc001mjr.2_Missense_Mutation_p.K1060E|USP47_uc009ygi.2_5'Flank NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1148 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) TGTGTTTGCTAAAGGAATGAC 0.338 NA 6 36 0 0 0 0 USP47 55031 broad.mit.edu 37 11 11971484 11971484 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:11971484C>T uc001mjs.2 + 23 4160 c.3397C>T c.(3397-3399)CGG>TGG p.R1133W USP47_uc001mjr.2_Missense_Mutation_p.R1065W|USP47_uc009ygi.2_5'Flank NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1153 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) AATGACTGTACGGCAATCAAA 0.358 NA 7 37 0 0 0 0 MICALCL 84953 broad.mit.edu 37 11 12345523 12345523 + Splice_Site SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:12345523A>G uc001mkg.1 + 5 1834 c.1543_splice c.e5-2 p.E515_splice NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) TGGTTTTCATAGGAGAAGAAG 0.353 NA 3 77 0 0 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17140215 17140215 + Silent SNP G G T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:17140215G>T uc001mmq.3 - 17 3078 c.3012C>A c.(3010-3012)ATC>ATA p.I1004I PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.I624I|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1004 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) GTGCTATCTGGATATTTCCCA 0.289 NA 29 120 7.01e-11 7.58e-11 1 0 USH1C 10083 broad.mit.edu 37 11 17548829 17548829 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:17548829G>A uc001mnf.2 - 5 546 c.437C>T c.(436-438)ACC>ATC p.T146I USH1C_uc001mne.2_Missense_Mutation_p.T146I|USH1C_uc009yhb.2_Missense_Mutation_p.T146I|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.T110I NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 146 PDZ 1. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CTCCTCATGGGTACAGGAGGA 0.522 NA 13 68 0 0 0 0 OR5L2 26338 broad.mit.edu 37 11 55594821 55594821 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:55594821C>T uc001nhy.1 + 1 127 c.127C>T c.(127-129)CTG>TTG p.L43L NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GTTAGCCAATCTGGGCATGAC 0.498 NA HNSCC(27;0.073) 63 247 0 0 0 0 OR5D16 390144 broad.mit.edu 37 11 55606633 55606633 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:55606633G>A uc010rio.1 + 1 406 c.406G>A c.(406-408)GTT>ATT p.V136I NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) GCTCTACACAGTTGCCATCTC 0.453 NA 20 83 0 0 0 0 MMP13 4322 broad.mit.edu 37 11 102816405 102816405 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:102816405C>T uc001phl.2 - 9 1313 c.1285G>A c.(1285-1287)GAT>AAT p.D429N NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 429 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TCTACTTTATCACCAATTCCT 0.338 NA 17 58 0 0 0 0 OR6M1 390261 broad.mit.edu 37 11 123676380 123676380 + Silent SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:123676380G>A uc010rzz.1 - 1 678 c.678C>T c.(676-678)CCC>CCT p.P226P NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) CCTGGGTGGAGGGGATACGCA 0.498 NA 5 21 0 0 0 0 PARP11 57097 broad.mit.edu 37 12 3931108 3931108 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:3931108G>A uc001qmk.1 - 5 513 c.458C>T c.(457-459)ACG>ATG p.T153M PARP11_uc001qml.2_Missense_Mutation_p.T160M|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.T79M|PARP11_uc001qmn.2_Missense_Mutation_p.T79M NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 153 PARP catalytic. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GCGATCCATCGTCTTCCCAAA 0.348 NA 19 72 0 0 0 0 IFFO1 25900 broad.mit.edu 37 12 6664531 6664531 + Missense_Mutation SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:6664531A>G uc001qpd.1 - 1 699 c.665T>C c.(664-666)GTG>GCG p.V222A IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.V222A|IFFO1_uc001qpf.1_Missense_Mutation_p.V222A|IFFO1_uc001qpc.1_Missense_Mutation_p.V222A NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 222 intermediate filament 0 ATCCGGGTGCACCCACGACAA 0.682 NA 9 50 0 0 0 0 GPR162 27239 broad.mit.edu 37 12 6933294 6933294 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:6933294G>A uc001qqw.1 + 2 765 c.230G>A c.(229-231)CGT>CAT p.R77H GPR162_uc010sfn.1_Missense_Mutation_p.R77H|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank NM_019858 NP_062832 Q16538 GP162_HUMAN G protein-coupled receptor 162 isoform 2 77 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CAGCTGCGTCGTCAGGCTTCC 0.602 NA 11 62 0 0 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48131465 48131465 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:48131465G>A uc009zkp.2 - 27 2971 c.2531C>T c.(2530-2532)TCG>TTG p.S844L uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Missense_Mutation_p.S179L|RAPGEF3_uc001rpx.2_Missense_Mutation_p.S301L|RAPGEF3_uc010sln.1_Missense_Mutation_p.S341L|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.S844L|RAPGEF3_uc001rpz.3_Missense_Mutation_p.S886L NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 844 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GGACTGCTCCGAGCCTGGTGG 0.602 NA 8 25 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49438595 49438595 + Nonsense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:49438595G>C uc001rta.3 - 19 4895 c.4895C>G c.(4894-4896)TCA>TGA p.S1632* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1632 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AAGGGCATCTGAGGGCTCAGA 0.607 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 17 58 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49448693 49448693 + Nonsense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:49448693G>A uc001rta.3 - 2 166 c.166C>T c.(166-168)CAG>TAG p.Q56* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 56 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTGCAGTCCTGAGGAGTCTCC 0.522 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 40 139 0 0 0 0 SMARCD1 6602 broad.mit.edu 37 12 50480110 50480110 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:50480110C>T uc001rvx.3 + 2 514 c.344C>T c.(343-345)GCG>GTG p.A115V SMARCD1_uc010smo.1_Missense_Mutation_p.A115V|SMARCD1_uc001rvy.3_Missense_Mutation_p.A115V|SMARCD1_uc009zlp.2_Missense_Mutation_p.A115V NM_003076 NP_003067 Q96GM5 SMRD1_HUMAN SWI/SNF-related matrix-associated 115 Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity ovary(1) 1 CAGCAGCAGGCGGTCCAAAAT 0.617 NA 7 24 0 0 0 0 CCDC64 92558 broad.mit.edu 37 12 120510422 120510422 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:120510422C>T uc001txl.1 + 6 1222 c.1197C>T c.(1195-1197)GAC>GAT p.D399D CCDC64_uc001txk.2_Silent_p.D399D|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Silent_p.D48D NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 399 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding ovary(2) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTCCATGGACGAGTCTTCAG 0.572 NA 13 50 0 0 0 0 MLEC 9761 broad.mit.edu 37 12 121125205 121125205 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr12:121125205G>A uc001tyy.1 + 1 257 c.106G>A c.(106-108)GTG>ATG p.V36M NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 36 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 CGTggccggcgtggccggcgc 0.478 NA 4 6 0 0 0 0 RB1 5925 broad.mit.edu 37 13 48954379 48954379 + Splice_Site SNP T T G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr13:48954379T>G uc001vcb.2 + 16 1664 c.1498_splice c.e16+2 p.R500_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CATATAGCAGTAAGTTAAATT 0.333 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 4 10 0 0 0 0 PCCA 5095 broad.mit.edu 37 13 100915005 100915005 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr13:100915005C>G uc001voo.2 + 10 777 c.739C>G c.(739-741)CAA>GAA p.Q247E PCCA_uc010aga.2_Missense_Mutation_p.Q221E|PCCA_uc010tiz.1_Missense_Mutation_p.Q247E NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 247 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) ATTGTCATCTCAAGAAGCTGC 0.264 NA 30 136 0 0 0 0 PSMA6 5687 broad.mit.edu 37 14 35786477 35786477 + Missense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr14:35786477G>C uc001wtd.2 + 7 815 c.706G>C c.(706-708)GAT>CAT p.D236H KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.D157H|PSMA6_uc010tpu.1_Missense_Mutation_p.D157H NM_002791 NP_002782 P60900 PSA6_HUMAN proteasome alpha 6 subunit 236 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity 0 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AGCAGAGATTGATGCTCACCT 0.323 NA 29 131 0 0 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68252948 68252948 + Nonsense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr14:68252948G>A uc001xka.2 - 17 3161 c.3022C>T c.(3022-3024)CGA>TGA p.R1008* ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.R1008* NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1008 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCTATCCGTCGACCTGGAAAT 0.388 NA 8 19 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71493536 71493536 + Nonsense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr14:71493536C>T uc001xmo.2 + 15 3849 c.3403C>T c.(3403-3405)CAG>TAG p.Q1135* PCNX_uc010are.1_Nonsense_Mutation_p.Q1024*|PCNX_uc010arf.1_5'UTR NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1135 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCTCCTGCCTCAGGTGAATAC 0.284 NA 14 64 0 0 0 0 VSX2 338917 broad.mit.edu 37 14 74726405 74726405 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr14:74726405G>A uc001xpq.2 + 4 770 c.680G>A c.(679-681)CGG>CAG p.R227Q NM_182894 NP_878314 P58304 VSX2_HUMAN visual system homeobox 2 227 CVC. R -> W (in MCOP2). multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00154) GCCATGGTGCGGCACTCCATC 0.637 NA 12 56 0 0 0 0 TDP1 55775 broad.mit.edu 37 14 90433740 90433740 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr14:90433740C>T uc001xxy.2 + 5 932 c.633C>T c.(631-633)CTC>CTT p.L211L TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.L211L|TDP1_uc010atn.2_Silent_p.L211L|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.L211L NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 211 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TGGACTGGCTCGTAAAACAGT 0.408 NA Repair_of_DNA-protein_crosslinks 18 81 0 0 0 0 KCNK13 56659 broad.mit.edu 37 14 90650902 90650902 + Missense_Mutation SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr14:90650902A>G uc001xye.1 + 2 1224 c.782A>G c.(781-783)AAC>AGC p.N261S NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 261 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) CGCTTTGCCAACTTCGTCTTC 0.493 NA 23 81 0 0 0 0 ATG2B 55102 broad.mit.edu 37 14 96783566 96783566 + Silent SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr14:96783566G>A uc001yfi.2 - 20 3491 c.3126C>T c.(3124-3126)GAC>GAT p.D1042D NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1042 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGTTCTGAGAGTCTAATTTTT 0.373 NA 12 60 0 0 0 0 ADAM10 102 broad.mit.edu 37 15 58925416 58925416 + Silent SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr15:58925416A>G uc002afd.1 - 9 1599 c.1155T>C c.(1153-1155)GTT>GTC p.V385V ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Silent_p.V84V|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 385 Peptidase M12B.|Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) AGTTATGTCCAACTTCGTGAG 0.323 NA 13 29 0 0 0 0 MYO1E 4643 broad.mit.edu 37 15 59455404 59455404 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr15:59455404C>T uc002aga.2 - 23 2951 c.2579G>A c.(2578-2580)CGT>CAT p.R860H NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 860 actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) CTCCTCGTAACGCTTTGCTAA 0.433 NA 7 27 0 0 0 0 SRRM2 23524 broad.mit.edu 37 16 2816182 2816182 + Nonsense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr16:2816182C>T uc002crk.2 + 11 6202 c.5653C>T c.(5653-5655)CGA>TGA p.R1885* SRRM2_uc002crj.1_Nonsense_Mutation_p.R1789*|SRRM2_uc002crl.1_Nonsense_Mutation_p.R1885*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.R1789* NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1885 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCTGATAAGCCGACGTAGGTC 0.592 NA 9 49 0 0 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67318623 67318623 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr16:67318623C>T uc002eso.3 + 12 4235 c.1700C>T c.(1699-1701)ACG>ATG p.T567M PLEKHG4_uc002esp.3_Missense_Mutation_p.T374M|PLEKHG4_uc002esq.3_Missense_Mutation_p.T567M|PLEKHG4_uc010cef.2_Missense_Mutation_p.T567M|PLEKHG4_uc002ess.3_Missense_Mutation_p.T567M|PLEKHG4_uc010ceg.2_Missense_Mutation_p.T486M NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 567 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CAGGCCTTGACGTGGGCTGAG 0.448 NA 6 27 0 0 0 0 NFAT5 10725 broad.mit.edu 37 16 69703948 69703948 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr16:69703948G>A uc002exm.1 + 7 2592 c.1384G>A c.(1384-1386)GAA>AAA p.E462K NFAT5_uc002exh.1_Missense_Mutation_p.E256K|NFAT5_uc002exi.2_Missense_Mutation_p.E386K|NFAT5_uc002exj.1_Missense_Mutation_p.E386K|NFAT5_uc002exk.1_Missense_Mutation_p.E386K|NFAT5_uc002exl.1_Missense_Mutation_p.E480K|NFAT5_uc002exn.1_Missense_Mutation_p.E480K NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 462 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AGGAGAAGAAGAAGTGTTTTT 0.363 NA 8 38 0 0 0 0 LDHD 197257 broad.mit.edu 37 16 75146543 75146543 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr16:75146543C>T uc002fdm.2 - 10 1362 c.1315G>A c.(1315-1317)GAG>AAG p.E439K LDHD_uc002fdn.2_Missense_Mutation_p.E416K NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 439 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 CCCAGTTCCTCGGCGTCATCA 0.602 NA 10 39 0 0 0 0 VMO1 284013 broad.mit.edu 37 17 4688867 4688867 + Silent SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr17:4688867G>A uc002fyx.2 - 3 481 c.399C>T c.(397-399)CTC>CTT p.L133L VMO1_uc010vsh.1_3'UTR|VMO1_uc010vsi.1_3'UTR|VMO1_uc002fyy.2_3'UTR NM_182566 NP_872372 Q7Z5L0 VMO1_HUMAN vitelline membrane outer layer 1 isoform 1 133 vitelline membrane formation extracellular region ovary(1) 1 TGTTGTCACCGAGGGTCGTGG 0.642 NA 6 23 0 0 0 0 CCT6B 10693 broad.mit.edu 37 17 33288392 33288392 + Silent SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr17:33288392G>C uc002hig.2 - 1 115 c.21C>G c.(19-21)GTC>GTG p.V7V CCT6B_uc010ctg.2_Silent_p.V7V|CCT6B_uc010wcc.1_Silent_p.V7V|ZNF830_uc002hih.3_5'Flank NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 7 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) CCTTGGAGTTGACGGCCTTTA 0.572 NA 4 48 0 0 0 0 C17orf66 256957 broad.mit.edu 37 17 34190080 34190080 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr17:34190080C>G uc002hke.1 - 8 824 c.675G>C c.(673-675)GAG>GAC p.E225D C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.E185D|C17orf66_uc010wcm.1_Missense_Mutation_p.E191D NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 225 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CCTCATTTTTCTCCTTCAGCT 0.537 NA 20 104 0 0 0 0 ABCC3 8714 broad.mit.edu 37 17 48750428 48750428 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr17:48750428G>A uc002isl.2 + 18 2418 c.2338G>A c.(2338-2340)GCG>ACG p.A780T NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 780 ABC transporter 1.|Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCCACTGTCCGCGGTGGACTC 0.602 NA 13 46 0 0 0 0 TEX2 55852 broad.mit.edu 37 17 62238187 62238187 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr17:62238187C>T uc002jec.2 - 8 2951 c.2778G>A c.(2776-2778)CTG>CTA p.L926L TEX2_uc002jed.2_Silent_p.L933L|TEX2_uc002jee.2_Silent_p.L926L NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 926 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CTCCAACCTTCAGGGCTTCAA 0.443 NA 54 213 0 0 0 0 MC2R 4158 broad.mit.edu 37 18 13884716 13884716 + Missense_Mutation SNP T T A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr18:13884716T>A uc002ksp.1 - 2 979 c.802A>T c.(802-804)AAT>TAT p.N268Y NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 268 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) ATGACGGCATTGCACATGATC 0.502 NA 23 69 0 0 0 0 PQLC1 80148 broad.mit.edu 37 18 77664144 77664144 + Missense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr18:77664144G>C uc002lnl.2 - 6 820 c.648C>G c.(646-648)TTC>TTG p.F216L PQLC1_uc010dre.2_Missense_Mutation_p.F133L|PQLC1_uc002lnk.2_Missense_Mutation_p.F198L|PQLC1_uc010xfm.1_Nonsense_Mutation_p.S126* NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 216 PQ-loop 2. integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) AGGCCGTCTTGAAGGCGTCAC 0.647 NA 14 20 0 0 0 0 CHAF1A 10036 broad.mit.edu 37 19 4431980 4431980 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:4431980G>A uc002mal.2 + 12 2079 c.1979G>A c.(1978-1980)CGC>CAC p.R660H NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 660 Necessary for homodimerization and competence for chromatin assembly.|Binds to p60. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CATAAGGTCCGCCAGAAACTG 0.562 NA Chromatin_Structure 4 112 0 0 0 0 ISYNA1 51477 broad.mit.edu 37 19 18546719 18546719 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:18546719C>T uc002njd.1 - 8 1038 c.988G>A c.(988-990)GTG>ATG p.V330M ISYNA1_uc002nja.1_Missense_Mutation_p.V202M|ISYNA1_uc002njb.1_Missense_Mutation_p.V248M|ISYNA1_uc002njc.1_Missense_Mutation_p.V180M|ISYNA1_uc010xqh.1_Missense_Mutation_p.V128M|ISYNA1_uc002nje.1_Missense_Mutation_p.V276M|ISYNA1_uc002njf.1_Missense_Mutation_p.V180M NM_016368 NP_057452 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 330 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity ovary(1)|pancreas(1) 2 TTGTAACTCACGATGGACATG 0.622 NA 40 160 0 0 0 0 AXL 558 broad.mit.edu 37 19 41765694 41765694 + Missense_Mutation SNP C C T rs61737385 TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:41765694C>T uc010ehj.2 + 20 2760 c.2570C>T c.(2569-2571)GCG>GTG p.A857V CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.A848V|HNRNPUL1_uc010ehl.1_5'Flank NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 857 Cytoplasmic (Potential). integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 TGCCTCACTGCGGCTGAGGTC 0.637 NA 7 42 0 0 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388584 46388584 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:46388584G>A uc002pds.1 - 1 793 c.449C>T c.(448-450)GCG>GTG p.A150V NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GGCCCTTCGCGCCCCCTCAGC 0.716 NA 6 16 0 0 0 0 KLK3 354 broad.mit.edu 37 19 51361366 51361366 + Missense_Mutation SNP C C A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:51361366C>A uc002pts.1 + 3 329 c.288C>A c.(286-288)TTC>TTA p.F96L KLK3_uc010ycj.1_Missense_Mutation_p.F96L|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 96 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GCCACAGCTTCCCACACCCGC 0.577 NA 13 41 1.5e-05 1.58e-05 1 0 ZNF320 162967 broad.mit.edu 37 19 53384034 53384034 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:53384034C>T uc002qag.2 - 4 1536 c.1345G>A c.(1345-1347)GCC>ACC p.A449T ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.A395T|ZNF320_uc002qai.2_Missense_Mutation_p.A449T NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 449 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) GAATTAAAGGCTTTACCACAA 0.403 NA 6 65 0 0 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55239242 55239242 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:55239242C>T uc002qgu.1 + 4 539 c.521C>T c.(520-522)GCG>GTG p.A174V KIR2DL3_uc002qgv.2_Intron NM_153443 NP_703144 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three 174 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity p.A174V(1) ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) CTCCACGATGCGGGTTCCCAG 0.547 NA 62 41 0 0 0 0 NLRP4 147945 broad.mit.edu 37 19 56369057 56369057 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:56369057C>G uc002qmd.3 + 3 720 c.298C>G c.(298-300)CAA>GAA p.Q100E NLRP4_uc002qmf.2_Missense_Mutation_p.Q25E|NLRP4_uc010etf.2_Translation_Start_Site NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 100 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AAAGACCTATCAAGCTCACGC 0.423 NA 17 74 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57328787 57328787 + Missense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:57328787G>C uc002qnu.2 - 7 1374 c.1023C>G c.(1021-1023)TTC>TTG p.F341L ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.F312L|PEG3_uc002qnv.2_Missense_Mutation_p.F341L|PEG3_uc002qnw.2_Missense_Mutation_p.F217L|PEG3_uc002qnx.2_Missense_Mutation_p.F215L|PEG3_uc010etr.2_Missense_Mutation_p.F341L NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 341 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ACATTCTGGGGAATCTCTGTG 0.473 NA 12 83 0 0 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967762 58967762 + Missense_Mutation SNP C C T rs143809080 TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr19:58967762C>T uc002qsv.1 + 4 1558 c.1451C>T c.(1450-1452)ACG>ATG p.T484M ZNF324B_uc002qsu.1_Missense_Mutation_p.T474M|ZNF324B_uc010euq.1_Missense_Mutation_p.T484M NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 484 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TTCGTGTGCACGCAGTGTGGC 0.672 NA 11 62 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15415898 15415898 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:15415898C>G uc002rcc.1 - 44 5460 c.5434G>C c.(5434-5436)GAA>CAA p.E1812Q NBAS_uc010exl.1_Missense_Mutation_p.E884Q|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1812 ovary(2)|liver(1)|skin(1) 4 TCCAATGCTTCAAGAGGACTC 0.373 NA 11 76 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 140992403 140992403 + Silent SNP C C T rs149169898 byFrequency TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:140992403C>T uc002tvj.1 - 90 14583 c.13611G>A c.(13609-13611)GCG>GCA p.A4537A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4537 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) agatgggcggcgctgtgtgtg 0.06 NA TSP Lung(27;0.18) 7 46 0 0 0 0 MYO3B 140469 broad.mit.edu 37 2 171055792 171055792 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:171055792C>T uc002ufy.2 + 2 220 c.77C>T c.(76-78)ACC>ATC p.T26I MYO3B_uc002ufv.2_Missense_Mutation_p.T13I|MYO3B_uc010fqb.1_Missense_Mutation_p.T13I|MYO3B_uc002ufz.2_Missense_Mutation_p.T26I|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.T13I NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 26 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 CCCACAGACACCTGGGAAATT 0.413 NA 8 43 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179604387 179604387 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:179604387C>T uc010zfh.1 - 46 13284 c.13060G>A c.(13060-13062)GAA>AAA p.E4354K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4287K|TTN_uc010zfj.1_Missense_Mutation_p.E4162K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 4280 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATTTAGATTCAACTTCTGGT 0.398 NA 29 99 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210559886 210559886 + Missense_Mutation SNP C C A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:210559886C>A uc002vde.1 + 7 3240 c.2992C>A c.(2992-2994)CAA>AAA p.Q998K MAP2_uc002vdc.1_Missense_Mutation_p.Q998K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q994K NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 998 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AACCTATGAGCAAGCTTTGGC 0.418 NA 8 60 0.000157383 0.000164206 1 0 CPS1 1373 broad.mit.edu 37 2 211459299 211459299 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:211459299C>T uc002vee.3 + 12 1364 c.1232C>T c.(1231-1233)CCG>CTG p.P411L CPS1_uc010fur.2_Missense_Mutation_p.P417L|CPS1_uc010fus.2_5'UTR NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 411 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TCAGTCTTACCGAAGCCAGCA 0.363 NA 10 41 0 0 0 0 STK36 27148 broad.mit.edu 37 2 219559301 219559301 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:219559301C>T uc002viu.2 + 21 2720 c.2454C>T c.(2452-2454)GAC>GAT p.D818D STK36_uc002viv.2_Silent_p.D818D|STK36_uc002viw.2_5'UTR|STK36_uc002vix.2_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 818 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TGACCTTTGACCTCCAGCCCA 0.552 NA 20 84 0 0 0 0 MSL3L2 151507 broad.mit.edu 37 2 234775835 234775835 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:234775835C>G uc010znf.1 - 2 245 c.7G>C c.(7-9)GAA>CAA p.E3Q NR_024322 SubName: Full=cDNA FLJ52683, highly similar to Male-specific lethal 3-like 1; SubName: Full=cDNA, FLJ79271, highly similar to Male-specific lethal 3-like 1; SubName: Full=HCG1642047; 0 ACTGTTCTTTCTTCCATTTCC 0.383 NA 4 32 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238277502 238277502 + Missense_Mutation SNP C C T rs115765346 by1000genomes TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr2:238277502C>T uc002vwl.2 - 10 4889 c.4604G>A c.(4603-4605)CGC>CAC p.R1535H COL6A3_uc002vwo.2_Missense_Mutation_p.R1329H|COL6A3_uc010znj.1_Missense_Mutation_p.R928H NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1535 VWFA 8.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTCTTCTATGCGACTCCCCGC 0.592 NA 11 65 0 0 0 0 PLCB1 23236 broad.mit.edu 37 20 8719969 8719969 + Missense_Mutation SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr20:8719969T>C uc002wnb.2 + 21 2273 c.2270T>C c.(2269-2271)ATT>ACT p.I757T PLCB1_uc010zrb.1_Missense_Mutation_p.I656T|PLCB1_uc002wna.2_Missense_Mutation_p.I757T|PLCB1_uc002wnc.1_Missense_Mutation_p.I656T|PLCB1_uc002wnd.1_Missense_Mutation_p.I334T NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 757 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 GGTAAATTCATTGGCCACCGT 0.418 NA 13 69 0 0 0 0 RNF160 26046 broad.mit.edu 37 21 30303556 30303556 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr21:30303556G>A uc002ymr.2 - 29 5310 c.5297C>T c.(5296-5298)TCA>TTA p.S1766L NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1720 RING-type. ligase activity|zinc ion binding 0 GTGAATGACTGAGAAACAGAT 0.363 NA 14 61 0 0 0 0 TMEM50B 757 broad.mit.edu 37 21 34823152 34823152 + Silent SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr21:34823152A>G uc002yrt.1 - 7 628 c.450T>C c.(448-450)TTT>TTC p.F150F TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA NM_006134 NP_006125 P56557 TM50B_HUMAN transmembrane protein 50B 150 endoplasmic reticulum|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CGGTTCTTCCAAATTTGTAGA 0.348 NA 13 40 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41725414 41725414 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr21:41725414C>T uc002yyq.1 - 5 1364 c.912G>A c.(910-912)GTG>GTA p.V304V DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 304 Extracellular (Potential).|Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGCGGCCTATCACCTTAGCAG 0.502 NA 28 152 0 0 0 0 PRDM15 63977 broad.mit.edu 37 21 43221624 43221624 + Nonsense_Mutation SNP C C A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr21:43221624C>A uc002yzq.1 - 31 4411 c.4300G>T c.(4300-4302)GAA>TAA p.E1434* PRDM15_uc002yzo.2_Nonsense_Mutation_p.E1105*|PRDM15_uc002yzp.2_Nonsense_Mutation_p.E1125*|PRDM15_uc002yzr.1_Nonsense_Mutation_p.E1125* NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 1434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCGAGGCTTCCGGCTGGGGG 0.587 NA 12 53 2.32e-09 2.5e-09 1 0 NIPSNAP1 8508 broad.mit.edu 37 22 29966459 29966459 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr22:29966459G>A uc003afx.3 - 2 234 c.161C>T c.(160-162)CCC>CTC p.P54L NIPSNAP1_uc011akp.1_Missense_Mutation_p.P34L NM_003634 NP_003625 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 54 p.?(1) skin(1) 1 ATCCTTCCGGGGATCCACTTT 0.542 NA 5 24 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41531855 41531855 + Nonsense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr22:41531855C>T uc003azl.3 + 7 1962 c.1567C>T c.(1567-1569)CAA>TAA p.Q523* NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 523 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TGTAGGAGTTCAAACGCCGAG 0.373 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 12 46 0 0 0 0 SCUBE1 80274 broad.mit.edu 37 22 43610219 43610219 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr22:43610219C>T uc003bdt.1 - 16 2018 c.1930G>A c.(1930-1932)GGC>AGC p.G644S NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 644 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) ACACACTGGCCGAGCTCACCA 0.642 NA 3 48 0 0 0 0 NISCH 11188 broad.mit.edu 37 3 52521429 52521429 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:52521429G>A uc011beg.1 + 17 1993 c.1921G>A c.(1921-1923)GAG>AAG p.E641K NISCH_uc003ded.3_Missense_Mutation_p.E641K|NISCH_uc003dee.3_Missense_Mutation_p.E130K|NISCH_uc003deg.1_RNA NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 641 Necessary for homooligomerization and targeting to endosomes.|Potential.|Glu-rich.|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ggaggaggatgaggaggagga 0.428 NA 12 23 0 0 0 0 ZBTB11 27107 broad.mit.edu 37 3 101370392 101370392 + Missense_Mutation SNP C C A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:101370392C>A uc003dve.3 - 11 3010 c.2780G>T c.(2779-2781)CGA>CTA p.R927L NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 927 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ACGGAGTGTTCGAGCATCTAT 0.448 NA 28 114 2.49e-11 2.7e-11 1 0 C3orf30 152405 broad.mit.edu 37 3 118865322 118865322 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:118865322G>A uc003ecb.1 + 1 326 c.286G>A c.(286-288)GAT>AAT p.D96N IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.D96N NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 96 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) CAACCCTGCTGATGTTTCTGA 0.473 NA 5 31 0 0 0 0 SLC15A2 6565 broad.mit.edu 37 3 121649690 121649690 + Silent SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:121649690T>C uc003eep.2 + 18 1710 c.1557T>C c.(1555-1557)TTT>TTC p.F519F SLC15A2_uc011bjn.1_Silent_p.F488F NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 519 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CCCTCAGGTTTGTTAACACTT 0.289 NA 10 45 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126730864 126730864 + Missense_Mutation SNP A A C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:126730864A>C uc003ejg.2 + 9 2111 c.2107A>C c.(2107-2109)ACC>CCC p.T703P NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 726 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) AAAACCCATCACCCTGGCCGC 0.652 NA 6 26 0 0 0 0 PIK3CB 5291 broad.mit.edu 37 3 138417818 138417818 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:138417818C>G uc011bmq.1 - 11 1701 c.1701G>C c.(1699-1701)GAG>GAC p.E567D PIK3CB_uc011bmn.1_Missense_Mutation_p.E79D|PIK3CB_uc011bmo.1_Missense_Mutation_p.E13D|PIK3CB_uc011bmp.1_Missense_Mutation_p.E154D NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 567 PI3K helical. 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 GTGGGAAAATCTCTCGGCAGT 0.378 NA 21 104 0 0 0 0 XRN1 54464 broad.mit.edu 37 3 142137436 142137436 + Missense_Mutation SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:142137436T>C uc003eus.2 - 12 1323 c.1256A>G c.(1255-1257)GAG>GGG p.E419G XRN1_uc003eut.2_Missense_Mutation_p.E419G|XRN1_uc003euu.2_Missense_Mutation_p.E419G|XRN1_uc003euv.1_Missense_Mutation_p.E280G|XRN1_uc003euw.2_Missense_Mutation_p.E419G|XRN1_uc011bnh.1_Missense_Mutation_p.E209G NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 419 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 ATCTTCAGTCTCATCTTCTAA 0.333 NA 7 32 0 0 0 0 SI 6476 broad.mit.edu 37 3 164750459 164750459 + Missense_Mutation SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:164750459T>C uc003fei.2 - 24 2649 c.2587A>G c.(2587-2589)ACA>GCA p.T863A NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 863 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GATGAATGTGTGCACACAATA 0.333 NA HNSCC(35;0.089) 6 64 0 0 0 0 SERPINI1 5274 broad.mit.edu 37 3 167543055 167543055 + Nonsense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:167543055C>T uc003ffa.3 + 9 1375 c.1177C>T c.(1177-1179)CGA>TGA p.R393* SERPINI1_uc003ffb.3_Nonsense_Mutation_p.R393* NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 393 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 ATTCATGGGACGAGTCATGCA 0.318 NA 44 516 0 0 0 0 TNIK 23043 broad.mit.edu 37 3 170800121 170800121 + Missense_Mutation SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:170800121T>C uc003fhh.2 - 27 3577 c.3232A>G c.(3232-3234)AAA>GAA p.K1078E TNIK_uc003fhi.2_Missense_Mutation_p.K1023E|TNIK_uc003fhj.2_Missense_Mutation_p.K1049E|TNIK_uc003fhk.2_Missense_Mutation_p.K1070E|TNIK_uc003fhl.2_Missense_Mutation_p.K994E|TNIK_uc003fhm.2_Missense_Mutation_p.K1015E|TNIK_uc003fhn.2_Missense_Mutation_p.K1041E|TNIK_uc003fho.2_Missense_Mutation_p.K986E|TNIK_uc003fhg.2_Missense_Mutation_p.K256E|TNIK_uc003fhp.2_Missense_Mutation_p.K10E NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1078 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTATAGACTTTGCCTTGCCCA 0.438 NA 5 195 0 0 0 0 TBL1XR1 79718 broad.mit.edu 37 3 176769363 176769363 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:176769363C>T uc003fiw.3 - 5 616 c.356G>A c.(355-357)AGC>AAC p.S119N TBL1XR1_uc003fix.3_Missense_Mutation_p.S119N|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Missense_Mutation_p.S119N NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 119 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) TCCTTGTTGGCTGGCTGCAGC 0.453 NA 13 290 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 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) 73 123 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179069808 179069808 + Missense_Mutation SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:179069808T>C uc003fjs.2 + 3 359 c.233T>C c.(232-234)GTG>GCG p.V78A MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.V106A NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 78 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CACATGAAGGTGGCATTTTTT 0.378 NA 67 368 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166024 193166024 + Nonsense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:193166024G>C uc003ftd.2 - 18 2231 c.2123C>G c.(2122-2124)TCA>TGA p.S708* ATP13A4_uc003fte.1_Nonsense_Mutation_p.S708*|ATP13A4_uc011bsr.1_Nonsense_Mutation_p.S179*|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 708 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TATCCGGGCTGAGATGAGCTC 0.393 NA 12 176 0 0 0 0 BDH1 622 broad.mit.edu 37 3 197241274 197241274 + Silent SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:197241274G>A uc003fxr.2 - 7 825 c.423C>T c.(421-423)CTC>CTT p.L141L BDH1_uc003fxs.2_Silent_p.L141L|BDH1_uc003fxt.2_Silent_p.L54L|BDH1_uc003fxu.2_Silent_p.L141L NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 141 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) CATTGTTAACGAGGCCCCACA 0.587 NA 13 211 0 0 0 0 FAM193A 8603 broad.mit.edu 37 4 2661312 2661312 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr4:2661312G>A uc010icl.2 + 7 895 c.544G>A c.(544-546)GAG>AAG p.E182K FAM193A_uc010ick.2_Missense_Mutation_p.E382K|FAM193A_uc003gfd.2_Missense_Mutation_p.E182K|FAM193A_uc011bvm.1_Missense_Mutation_p.E206K|FAM193A_uc011bvn.1_Missense_Mutation_p.E182K|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E36K NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 182 ovary(3) 3 AGTTACTGGCGAGAACAACTT 0.453 NA 9 39 0 0 0 0 KCTD8 386617 broad.mit.edu 37 4 44449818 44449818 + Silent SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr4:44449818G>A uc003gwu.2 - 1 1007 c.723C>T c.(721-723)ATC>ATT p.I241I NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 241 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TGGCCAGCGCGATGCGCCCGC 0.667 NA HNSCC(17;0.042) 4 12 0 0 0 0 SMAD1 4086 broad.mit.edu 37 4 146467854 146467854 + Splice_Site SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr4:146467854G>A uc003ikc.2 + 5 1192 c.776_splice c.e5-1 p.D259_splice SMAD1_uc003ikd.2_Splice_Site_p.D259_splice|SMAD1_uc010iov.2_Splice_Site_p.D259_splice|SMAD1_uc011cic.1_Splice_Site_p.D220_splice NM_005900 NP_005891 Q15797 SMAD1_HUMAN Sma- and Mad-related protein 1 BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity ovary(1) 1 all_hematologic(180;0.151) CTTTCCTCTAGATGTTCAGGC 0.448 NA 40 103 0 0 0 0 POC5 134359 broad.mit.edu 37 5 74981280 74981280 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr5:74981280C>G uc003keh.3 - 10 1356 c.1159G>C c.(1159-1161)GAG>CAG p.E387Q POC5_uc010izu.2_Missense_Mutation_p.E270Q|POC5_uc003keg.3_Missense_Mutation_p.E362Q NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 387 cell cycle centriole lung(1) 1 GGACCATACTCTTCCTTTTTA 0.398 NA 17 139 0 0 0 0 CTNNA1 1495 broad.mit.edu 37 5 138145823 138145823 + Missense_Mutation SNP C C G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr5:138145823C>G uc003ldh.2 + 4 493 c.398C>G c.(397-399)TCT>TGT p.S133C CTNNA1_uc011cyx.1_Missense_Mutation_p.S30C|CTNNA1_uc011cyy.1_Missense_Mutation_p.S10C|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Missense_Mutation_p.S133C NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 133 Interaction with JUP and CTNNB1.|Involved in homodimerization. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GCTTTGCTCTCTGCTGTTACC 0.478 NA 28 62 0 0 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139918552 139918552 + Nonsense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr5:139918552C>T uc003lfs.1 + 33 7577 c.7453C>T c.(7453-7455)CAG>TAG p.Q2485* ANKHD1_uc003lfr.2_Nonsense_Mutation_p.Q2485*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.Q1241*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.Q1140*|ANKHD1_uc010jfl.2_Nonsense_Mutation_p.Q861*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.Q630* NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2485 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCATCCTCAGCTTGCTGA 0.363 NA 20 75 0 0 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710925 140710925 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr5:140710925C>T uc003lji.1 + 1 674 c.674C>T c.(673-675)ACC>ATC p.T225I PCDHGA1_uc011dan.1_Missense_Mutation_p.T225I NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 225 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTCAGGGACCCTCAGAATT 0.507 NA 16 49 0 0 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782613 140782613 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr5:140782613C>T uc003lkh.1 + 1 94 c.94C>T c.(94-96)CGC>TGC p.R32C 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_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R32C NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 32 Cadherin 1.|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) CAGTCAGATTCGCTACTCAGT 0.602 NA 14 69 0 0 0 0 DIAPH1 1729 broad.mit.edu 37 5 140903714 140903714 + Silent SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr5:140903714A>G uc003llb.3 - 28 3798 c.3657T>C c.(3655-3657)CGT>CGC p.R1219R DIAPH1_uc011dbd.1_Silent_p.R113R|DIAPH1_uc003llc.3_Silent_p.R1210R NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 1219 DAD. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTACCTTGACGGGGCCCTC 0.532 NA 14 65 0 0 0 0 PCDH1 5097 broad.mit.edu 37 5 141248480 141248480 + Missense_Mutation SNP A A C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr5:141248480A>C uc003llq.2 - 2 674 c.557T>G c.(556-558)CTC>CGC p.L186R PCDH1_uc003llp.2_Missense_Mutation_p.L186R|PCDH1_uc011dbf.1_Missense_Mutation_p.L164R NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 186 Extracellular (Potential).|Cadherin 2. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GATGGGGAAGAGTGAGCCGAT 0.572 NA 46 204 0 0 0 0 GRIA1 2890 broad.mit.edu 37 5 153149822 153149822 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr5:153149822G>A uc003lva.3 + 13 2482 c.2117G>A c.(2116-2118)CGA>CAA p.R706Q GRIA1_uc003luy.3_Missense_Mutation_p.R706Q|GRIA1_uc003luz.3_Missense_Mutation_p.R611Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R626Q|GRIA1_uc011dcx.1_Missense_Mutation_p.R637Q|GRIA1_uc011dcy.1_Missense_Mutation_p.R716Q|GRIA1_uc011dcz.1_Missense_Mutation_p.R716Q NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 706 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGGATGATTCGAGTGAGGAAA 0.483 NA 14 47 0 0 0 0 RPP40 10799 broad.mit.edu 37 6 4998960 4998960 + Nonsense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:4998960C>T uc003mwl.2 - 5 584 c.549G>A c.(547-549)TGG>TGA p.W183* RPP40_uc003mwm.2_Nonsense_Mutation_p.W160* NM_006638 NP_006629 O75818 RPP40_HUMAN ribonuclease P 40kDa subunit 183 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 Ovarian(93;0.11) all_hematologic(90;0.0895) CTGTTTTATGCCAAGCCAAAA 0.299 NA 4 21 0 0 0 0 FARS2 10667 broad.mit.edu 37 6 5369231 5369231 + Missense_Mutation SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:5369231A>G uc010jnv.1 + 2 764 c.428A>G c.(427-429)AAC>AGC p.N143S FARS2_uc003mwr.2_Missense_Mutation_p.N143S|FARS2_uc003mws.1_Missense_Mutation_p.N143S NM_006567 NP_006558 O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2 precursor 143 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) AAGGGGGACAACTATTACCTG 0.567 NA 10 74 0 0 0 0 RREB1 6239 broad.mit.edu 37 6 7229769 7229769 + Silent SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:7229769G>A uc003mxc.2 + 10 1827 c.1437G>A c.(1435-1437)TCG>TCA p.S479S RREB1_uc003mxb.2_Silent_p.S479S|RREB1_uc010jnx.2_Silent_p.S479S NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 479 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) TGGCAGCCTCGGCTCCCCCTC 0.607 NA 26 208 0 0 0 0 MAK 4117 broad.mit.edu 37 6 10770373 10770373 + Missense_Mutation SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:10770373T>C uc003mzl.2 - 12 1917 c.1688A>G c.(1687-1689)CAC>CGC p.H563R SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_RNA|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.H563R NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 563 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) AGGTGCTAAGTGGATCCTCTG 0.398 NA 17 90 0 0 0 0 MLN 4295 broad.mit.edu 37 6 33768873 33768873 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:33768873G>A uc003off.1 - 2 139 c.68C>T c.(67-69)ACG>ATG p.T23M MLN_uc003ofg.1_Missense_Mutation_p.T23M|MLN_uc011drn.1_Missense_Mutation_p.T23M NM_002418 NP_002409 P12872 MOTI_HUMAN motilin isoform 1 preproprotein 23 cell-cell signaling|G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction hormone activity 0 GAAGGCTTCCGTCTGGGAGGC 0.577 NA 18 102 0 0 0 0 KIF6 221458 broad.mit.edu 37 6 39513399 39513399 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:39513399G>A uc003oot.2 - 11 1342 c.1247C>T c.(1246-1248)GCG>GTG p.A416V KIF6_uc010jxa.1_Missense_Mutation_p.A207V|KIF6_uc011dua.1_Missense_Mutation_p.A416V|KIF6_uc010jxb.1_Missense_Mutation_p.A416V NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 416 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 ACGCATATCCGCGCCAACCTC 0.363 NA 7 83 0 0 0 0 LRFN2 57497 broad.mit.edu 37 6 40360590 40360590 + Missense_Mutation SNP C C T rs55706368 TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:40360590C>T uc003oph.1 - 3 1927 c.1462G>A c.(1462-1464)GAC>AAC p.D488N NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 488 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) ACACACAAGTCGTAGCCAGTC 0.597 NA 4 27 0 0 0 0 CCDC129 223075 broad.mit.edu 37 7 31692184 31692184 + Missense_Mutation SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr7:31692184A>G uc003tcj.1 + 14 3869 c.2876A>G c.(2875-2877)CAA>CGA p.Q959R CCDC129_uc011kad.1_Missense_Mutation_p.Q969R|CCDC129_uc003tci.1_Missense_Mutation_p.Q810R|CCDC129_uc011kae.1_Missense_Mutation_p.Q985R|CCDC129_uc003tck.1_Missense_Mutation_p.Q867R NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 959 0 AATCTGCATCAATATAACTGG 0.468 NA 3 16 0 0 0 0 NRF1 4899 broad.mit.edu 37 7 129367082 129367082 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr7:129367082G>A uc003voz.2 + 10 1342 c.1225G>A c.(1225-1227)GAA>AAA p.E409K NRF1_uc003vpa.2_Missense_Mutation_p.E409K|NRF1_uc011kpa.1_Missense_Mutation_p.E248K|NRF1_uc003vpb.2_Missense_Mutation_p.E409K NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 409 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 TGCCCGCAGCGAAGCTGCCGC 0.577 NA 5 38 0 0 0 0 POLR3D 661 broad.mit.edu 37 8 22106636 22106636 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr8:22106636C>T uc003xbl.2 + 7 818 c.735C>T c.(733-735)CTC>CTT p.L245L POLR3D_uc003xbm.2_Silent_p.L245L|POLR3D_uc011kze.1_Intron NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide 245 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CTCCAGGCCTCCCGAAGGATG 0.592 NA 4 39 0 0 0 0 ADAM32 203102 broad.mit.edu 37 8 39022696 39022696 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr8:39022696G>A uc003xmt.3 + 9 1059 c.814G>A c.(814-816)GAT>AAT p.D272N ADAM32_uc011lch.1_Missense_Mutation_p.D279N|ADAM32_uc003xmu.3_Missense_Mutation_p.D272N NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 272 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) AAGGCCTCATGATATTGCATA 0.289 NA 5 27 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55542592 55542592 + Silent SNP T T C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr8:55542592T>C uc003xsd.1 + 4 6298 c.6150T>C c.(6148-6150)AAT>AAC p.N2050N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2050 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGGATTCAAATACACAAGACC 0.338 NA 6 46 0 0 0 0 MMP16 4325 broad.mit.edu 37 8 89180146 89180146 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr8:89180146C>T uc003yeb.3 - 4 743 c.461G>A c.(460-462)CGT>CAT p.R154H MMP16_uc003yec.2_Missense_Mutation_p.R154H NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 154 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 ATCAAAGGCACGGCGAATAGC 0.368 NA 7 46 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110456922 110456922 + Missense_Mutation SNP A A T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr8:110456922A>T uc003yne.2 + 38 4928 c.4824A>T c.(4822-4824)GAA>GAT p.E1608D NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1608 Extracellular (Potential).|IPT/TIG 8. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGTCGTAGAAGAAAGTAGTG 0.358 NA HNSCC(38;0.096) 81 210 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113960032 113960032 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr8:113960032C>T uc003ynu.2 - 9 1654 c.1495G>A c.(1495-1497)GGA>AGA p.G499R CSMD3_uc003ynt.2_Missense_Mutation_p.G459R|CSMD3_uc011lhx.1_Missense_Mutation_p.G395R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 499 Extracellular (Potential).|Sushi 2. 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 AAATCTGATCCGATTCTCTTC 0.294 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 60 0 0 0 0 DENND3 22898 broad.mit.edu 37 8 142178285 142178285 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr8:142178285G>A uc003yvy.2 + 13 1974 c.1696G>A c.(1696-1698)GTT>ATT p.V566I DENND3_uc010mep.2_Missense_Mutation_p.V527I|DENND3_uc003yvz.1_Missense_Mutation_p.V250I NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 566 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCGAGGGCTCGTTTATCTGAT 0.522 NA 14 152 0 0 0 0 C9orf135 138255 broad.mit.edu 37 9 72521027 72521027 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr9:72521027C>T uc004ahl.2 + 6 730 c.665C>T c.(664-666)ACT>ATT p.T222I C9orf135_uc011lrw.1_3'UTR|C9orf135_uc010moq.2_Missense_Mutation_p.T114I|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_3'UTR NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 222 Cytoplasmic (Potential). integral to membrane ovary(1) 1 TATCCCTTGACTAGTGGGCCT 0.338 NA 12 64 0 0 0 0 SLC44A1 23446 broad.mit.edu 37 9 108151336 108151336 + Nonstop_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr9:108151336G>C uc004bcn.2 + 16 2194 c.1973G>C c.(1972-1974)TGA>TCA p.*658S SLC44A1_uc010mtk.1_Intron|SLC44A1_uc004bco.1_Intron NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 658 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) AGTTCTGCTTGAACCTAGCCG 0.279 NA 33 149 0 0 0 0 RGS3 5998 broad.mit.edu 37 9 116353615 116353615 + Missense_Mutation SNP G G T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr9:116353615G>T uc004bhq.2 + 22 3227 c.3018G>T c.(3016-3018)ATG>ATT p.M1006I RGS3_uc004bhs.2_Missense_Mutation_p.M896I|RGS3_uc004bht.2_Missense_Mutation_p.M725I|RGS3_uc010muy.2_Missense_Mutation_p.M399I|RGS3_uc004bhv.2_Missense_Mutation_p.M327I|RGS3_uc010muz.1_Missense_Mutation_p.M345I|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.M316I|RGS3_uc004bhx.2_Missense_Mutation_p.M327I|RGS3_uc004bhy.1_Missense_Mutation_p.M316I|RGS3_uc004bhz.2_Missense_Mutation_p.M348I|RGS3_uc004bia.2_5'Flank NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 1006 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 CTCCGCAGATGAGCGGGGCTG 0.572 NA 8 52 3.1e-07 3.3e-07 1 0 OR1J4 26219 broad.mit.edu 37 9 125282179 125282179 + Missense_Mutation SNP A A G TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr9:125282179A>G uc011lyw.1 + 1 760 c.760A>G c.(760-762)ACA>GCA p.T254A NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTATTATGGCACAATTATTGG 0.493 NA 16 70 0 0 0 0 EHMT1 79813 broad.mit.edu 37 9 140657192 140657192 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr9:140657192C>T uc011mfc.1 + 10 1604 c.1567C>T c.(1567-1569)CGG>TGG p.R523W EHMT1_uc004coa.2_Missense_Mutation_p.R523W|EHMT1_uc004cob.1_Missense_Mutation_p.R492W|FLJ40292_uc010nco.2_5'Flank NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 523 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CTGCAGCTGCCGGATGGAAAC 0.537 NA 8 36 0 0 0 0 SMC1A 8243 broad.mit.edu 37 X 53426517 53426517 + Silent SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chrX:53426517G>A uc004dsg.2 - 16 2625 c.2556C>T c.(2554-2556)CTC>CTT p.L852L SMC1A_uc011moe.1_Silent_p.L830L NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 852 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 TTACCTTTTTGAGCTTTTCTA 0.333 NA 13 28 0 0 0 0 WDR44 54521 broad.mit.edu 37 X 117527109 117527109 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chrX:117527109C>T uc004eqn.2 + 4 1126 c.701C>T c.(700-702)GCA>GTA p.A234V WDR44_uc004eqo.2_Missense_Mutation_p.A234V|WDR44_uc011mtr.1_Missense_Mutation_p.A209V|WDR44_uc010nqi.2_5'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 234 Pro-rich. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 CCTGTTCCAGCACGCCCACCT 0.517 NA 80 68 0 0 0 0 AIFM1 9131 broad.mit.edu 37 X 129272623 129272623 + Silent SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chrX:129272623C>T uc004evg.2 - 9 1090 c.912G>A c.(910-912)ACG>ACA p.T304T AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Silent_p.T304T|AIFM1_uc004evh.2_Silent_p.T300T|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 304 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 CACCGATAATCGTAATTGATT 0.433 NA 51 35 0 0 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450902 110450902 + Frame_Shift_Del DEL A A - TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr11:110450902delA uc001pkz.1 - 16 3053 c.2768delT c.(2767-2769)TTAfs p.L923fs ARHGAP20_uc001pky.1_Frame_Shift_Del_p.L900fs|ARHGAP20_uc009yyb.1_Frame_Shift_Del_p.L887fs|ARHGAP20_uc001pla.1_Frame_Shift_Del_p.L887fs|ARHGAP20_uc001plb.2_Frame_Shift_Del_p.L466fs NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 923 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TCTTGGGGGTAAAACCTTCTC 0.493 NA 30 104 --- --- --- --- NA NA NA NA MAP3K13 9175 broad.mit.edu 37 3 185190964 185190964 + Frame_Shift_Del DEL A A - TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:185190964delA uc010hyf.2 + 12 2111 c.1845delA c.(1843-1845)TCAfs p.S615fs MAP3K13_uc011brt.1_Frame_Shift_Del_p.S408fs|MAP3K13_uc011bru.1_Frame_Shift_Del_p.S471fs|MAP3K13_uc003fpi.2_Frame_Shift_Del_p.S615fs|MAP3K13_uc010hyg.2_Frame_Shift_Del_p.S305fs NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 615 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGGAAAATTCACCCCATCCCA 0.532 NA 7 1226 --- --- --- --- NA NA NA NA C3orf59 151963 broad.mit.edu 37 3 192517004 192517004 + Frame_Shift_Del DEL T T - TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr3:192517004delT uc011bsp.1 - 2 968 c.647delA c.(646-648)AATfs p.N216fs NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 216 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) GATGGTCCCATTTTTTTCCAC 0.463 NA 8 383 --- --- --- --- NA NA NA NA C6orf89 221477 broad.mit.edu 37 6 36882411 36882411 + Frame_Shift_Del DEL T T - TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:36882411delT uc003omx.2 + 6 921 c.637delT c.(637-639)TTTfs p.F213fs C6orf89_uc003omv.2_Frame_Shift_Del_p.F107fs|C6orf89_uc003omw.2_Frame_Shift_Del_p.F220fs|C6orf89_uc011dtr.1_Frame_Shift_Del_p.F107fs|C6orf89_uc003omy.2_Frame_Shift_Del_p.F47fs NM_152734 NP_689947 Q6UWU4 CF089_HUMAN hypothetical protein LOC221477 213 integral to membrane ovary(1) 1 CTCTGAAGGGTTTTTCGCCAA 0.448 NA 7 326 --- --- --- --- NA NA NA NA MDN1 23195 broad.mit.edu 37 6 90426527 90426528 + Frame_Shift_Del DEL CT CT - TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4df06d7-97e1-4f22-83a7-993fdcd3a4da fc5e7544-cc5f-4877-b0c3-82221acd39b6 g.chr6:90426527_90426528delCT uc003pnn.1 - 44 6700_6701 c.6584_6585delAG c.(6583-6585)GAGfs p.E2195fs NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2195 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTTTGGCAAACTCTGAAATGTC 0.421 NA 13 59 --- --- --- --- NA NA NA NA