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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut CAMTA1 23261 broad.mit.edu 37 1 7725216 7725216 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:7725216T>A uc001aoi.2 + 9 2816 c.2609T>A c.(2608-2610)GTG>GAG p.V870E NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 870 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGCGGACGGGTGTTCATGGTG 0.687 NA 18 24 0 0 0.00499 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:12887606C>G uc001auk.2 - 3 447 c.251G>C c.(250-252)TGC>TCC p.C84S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 84 0 ATTGAGGAAGCACCCATGGGC 0.483 NA 5 259 0 0 0.00308 0 0 CATSPER4 378807 broad.mit.edu 37 1 26527428 26527428 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:26527428C>T uc010oez.1 + 8 1095 c.1095C>T c.(1093-1095)CCC>CCT p.P365P CATSPER4_uc010oey.1_Silent_p.P187P|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 365 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CGGGAGGCCCCCTGTCGAACC 0.552 NA 27 41 0 0 0.004656 0 0 C1orf172 126695 broad.mit.edu 37 1 27278144 27278144 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:27278144A>G uc001bni.1 - 2 817 c.728T>C c.(727-729)ATC>ACC p.I243T NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 243 large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CTTCTTGAAGATGAGCACATC 0.537 NA 20 13 0 0 0.010504 0 0 CSMD2 114784 broad.mit.edu 37 1 34276420 34276420 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:34276420G>C uc001bxn.1 - 10 1279 c.1250C>G c.(1249-1251)ACC>AGC p.T417S CSMD2_uc001bxm.1_Missense_Mutation_p.T457S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 417 CUB 3.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATTGGGGGAGGTGATGATGCC 0.542 NA 40 58 0 0 0.011902 0 0 SFPQ 6421 broad.mit.edu 37 1 35652649 35652649 + Missense_Mutation SNP C C A rs144271953 by1000genomes TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:35652649C>A uc001bys.2 - 9 2032 c.1939G>T c.(1939-1941)GGC>TGC p.G647C SFPQ_uc001byr.2_RNA NM_005066 NP_005057 P23246 SFPQ_HUMAN splicing factor proline/glutamine rich 647 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|protein binding|RNA binding SFPQ/TFE3(6) kidney(4)|soft_tissue(2)|ovary(1)|skin(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GGTGGAACGCCAGGATTAGCT 0.443 NA T TFE3 papillary renal cell 32 56 1.74807e-11 2.20615e-11 0.010818 1 0 PODN 127435 broad.mit.edu 37 1 53544461 53544461 + Missense_Mutation SNP C C T rs145236540 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:53544461C>T uc001cuv.2 + 8 1430 c.1423C>T c.(1423-1425)CGC>TGC p.R475C PODN_uc001cuw.2_Missense_Mutation_p.R456C|PODN_uc010onr.1_Missense_Mutation_p.R456C|PODN_uc010ons.1_Missense_Mutation_p.R333C NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 427 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 CGACGCCTTCCGCAAGCTGCG 0.642 NA 31 23 0 0 0.009535 0 0 GLIS1 148979 broad.mit.edu 37 1 53995556 53995556 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:53995556C>G uc001cvr.1 - 4 1432 c.865G>C c.(865-867)GAG>CAG p.E289Q NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 289 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 TACGGCTTCTCGCCCGTGTGG 0.637 NA 18 21 0 0 0.007413 0 0 LEPR 3953 broad.mit.edu 37 1 66038102 66038102 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:66038102A>T uc001dci.2 + 5 666 c.464A>T c.(463-465)TAT>TTT p.Y155F LEPR_uc001dcg.2_Missense_Mutation_p.Y155F|LEPR_uc001dch.2_Missense_Mutation_p.Y155F|LEPR_uc009waq.2_Missense_Mutation_p.Y155F|LEPR_uc001dcj.2_Missense_Mutation_p.Y155F|LEPR_uc001dck.2_Missense_Mutation_p.Y155F NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 155 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTCAGGAATTATAACTATAAG 0.294 NA 13 17 0 0 0.016723 0 0 PDE4B 5142 broad.mit.edu 37 1 66713219 66713219 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:66713219C>A uc001dcn.2 + 4 549 c.358C>A c.(358-360)CTT>ATT p.L120I PDE4B_uc009war.2_Missense_Mutation_p.L28I|PDE4B_uc001dco.2_Missense_Mutation_p.L120I|PDE4B_uc001dcp.2_Missense_Mutation_p.L105I NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 120 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGGGCTGGTACTTCACGCCAC 0.537 NA 79 80 1.39921e-30 2.20402e-30 0.01441 1 0 RPE65 6121 broad.mit.edu 37 1 68905310 68905310 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:68905310A>G uc001dei.1 - 7 713 c.659T>C c.(658-660)ATA>ACA p.I220T NM_000329 NP_000320 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 220 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity ovary(1) 1 TGACTTGCTTATTGGATCTTC 0.378 NA 43 60 0 0 0.009718 0 0 CLCA4 22802 broad.mit.edu 37 1 87040257 87040257 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:87040257C>A uc009wcs.2 + 10 1546 c.1502C>A c.(1501-1503)GCC>GAC p.A501D CLCA4_uc009wct.2_Missense_Mutation_p.A264D|CLCA4_uc009wcu.2_Missense_Mutation_p.A321D NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 501 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AATAGTAATGCCTGGATGAAC 0.373 NA 33 70 3.76114e-14 5.03488e-14 0.019004 1 0 COL11A1 1301 broad.mit.edu 37 1 103548481 103548481 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:103548481C>G uc001dul.2 - 2 472 c.154G>C c.(154-156)GAG>CAG p.E52Q COL11A1_uc001dum.2_Missense_Mutation_p.E52Q|COL11A1_uc001dun.2_Missense_Mutation_p.E52Q|COL11A1_uc009weh.2_Missense_Mutation_p.E52Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 52 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GATATTCCCTCTGGAGAATTG 0.368 NA 35 42 0 0 0.012213 0 0 IGSF3 3321 broad.mit.edu 37 1 117122485 117122485 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:117122485C>A uc001egr.1 - 10 3568 c.2863G>T c.(2863-2865)GTG>TTG p.V955L IGSF3_uc001egq.1_Missense_Mutation_p.V975L NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 955 Ig-like C2-type 8.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ACTGTGTCCACCTGCAGGGAA 0.453 NA 10 15 1.08611e-07 1.25366e-07 0.010729 1 0 WARS2 10352 broad.mit.edu 37 1 119575683 119575683 + Nonsense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:119575683C>A uc001ehn.2 - 6 962 c.934G>T c.(934-936)GAG>TAG p.E312* WARS2_uc010oxf.1_Nonsense_Mutation_p.E218*|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Nonsense_Mutation_p.E255*|WARS2_uc010oxh.1_3'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 312 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GCAAACTTCTCAATCACAGCA 0.517 NA 58 83 4.10029e-35 6.50766e-35 0.01441 1 0 BCL9 607 broad.mit.edu 37 1 147092256 147092256 + Silent SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:147092256G>C uc001epq.2 + 8 3035 c.2295G>C c.(2293-2295)GTG>GTC p.V765V BCL9_uc010ozr.1_Silent_p.V691V NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 765 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) AGAAGATGGTGCCACTGCCAT 0.592 NA T IGH@|IGL@ B-ALL 18 17 0 0 0.00499 0 0 SF3B4 10262 broad.mit.edu 37 1 149898282 149898282 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:149898282C>A uc001etj.1 - 3 743 c.692G>T c.(691-693)GGG>GTG p.G231V SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.G231V|SF3B4_uc009wll.1_Missense_Mutation_p.G231V NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 231 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TGGAGGAAGCCCAGACCCCAA 0.522 NA 44 23 5.34276e-22 7.85479e-22 0.01441 1 0 NPR1 4881 broad.mit.edu 37 1 153660565 153660565 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:153660565C>A uc001fcs.3 + 15 2706 c.2285C>A c.(2284-2286)CCC>CAC p.P762H NPR1_uc010pdz.1_Missense_Mutation_p.P508H|NPR1_uc010pea.1_Missense_Mutation_p.P240H NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 762 Cytoplasmic (Potential).|Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GAGCAGCCCCCCTTCCGGCCC 0.667 Pancreas(141;1349 1870 15144 15830 40702) NA 35 60 2.09667e-21 3.05036e-21 0.017118 1 0 UBAP2L 9898 broad.mit.edu 37 1 154224114 154224114 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:154224114A>G uc001fep.3 + 14 1816 c.1649A>G c.(1648-1650)TAT>TGT p.Y550C UBAP2L_uc009wot.2_Missense_Mutation_p.Y550C|UBAP2L_uc010pek.1_Missense_Mutation_p.Y542C|UBAP2L_uc010pel.1_Missense_Mutation_p.Y560C|UBAP2L_uc010pen.1_Missense_Mutation_p.Y464C NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 550 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGTAGCCTGTATACCAGCACG 0.478 NA 3 130 0 0 0.009096 0 0 ASH1L 55870 broad.mit.edu 37 1 155451984 155451984 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:155451984G>A uc009wqq.2 - 3 1157 c.677C>T c.(676-678)ACC>ATC p.T226I ASH1L_uc001fkt.2_Missense_Mutation_p.T226I|ASH1L_uc009wqr.1_Missense_Mutation_p.T226I NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 226 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGGAGGACAGGTAGCAATCAG 0.448 NA 50 115 0 0 0.01441 0 0 MSTO2P 100129405 broad.mit.edu 37 1 155717352 155717352 + Splice_Site SNP A A C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:155717352A>C uc010pgn.1 + 7 572 c.561_splice c.e7-2 p.G187_splice MSTO2P_uc010pgo.1_Splice_Site_p.G187_splice|MSTO2P_uc010pgp.1_Splice_Site NM_018116 NP_060586 misato 0 TACTTGTGGCAGGGAAGCAGG 0.547 NA 5 25 0 0 0.00308 0 0 FCRL3 115352 broad.mit.edu 37 1 157667638 157667638 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:157667638C>G uc001frb.2 - 5 662 c.370G>C c.(370-372)GAC>CAC p.D124H FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D124H|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.D124H NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 124 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TTTTTGTTGTCTTTCCCCTGA 0.423 NA 96 58 0 0 0.01441 0 0 OR10K2 391107 broad.mit.edu 37 1 158390049 158390049 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:158390049C>A uc010pii.1 - 1 608 c.608G>T c.(607-609)TGT>TTT p.C203F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GACCAATGTACAGAGCATGAA 0.453 NA 37 73 1.26612e-14 1.71684e-14 0.015359 1 0 OR6K2 81448 broad.mit.edu 37 1 158670076 158670076 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:158670076G>T uc001fsu.1 - 1 367 c.367C>A c.(367-369)CTG>ATG p.L123M NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CATATGGCCAGGTAGTGGTCA 0.473 NA 32 60 1.99505e-19 2.82408e-19 0.012213 1 0 CD48 962 broad.mit.edu 37 1 160651121 160651121 + Nonsense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:160651121C>A uc001fwn.2 - 3 555 c.523G>T c.(523-525)GAG>TAG p.E175* CD48_uc001fwo.1_Nonsense_Mutation_p.E175* NM_001778 NP_001769 P09326 CD48_HUMAN CD48 molecule precursor 175 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding 0 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTCTGGAGCTCCTTTGGGAAG 0.463 NA 69 145 1.08321e-29 1.69986e-29 0.01441 1 0 USP21 27005 broad.mit.edu 37 1 161132420 161132420 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:161132420T>C uc010pke.1 + 6 1174 c.797T>C c.(796-798)ATT>ACT p.I266T USP21_uc010pkc.1_Missense_Mutation_p.I266T|USP21_uc010pkd.1_Missense_Mutation_p.I266T|USP21_uc010pkf.1_Missense_Mutation_p.I266T NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 266 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCAGATGTGATTGGTGCCCTC 0.507 NA 37 19 0 0 0.021022 0 0 SLC9A11 284525 broad.mit.edu 37 1 173478744 173478744 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:173478744G>C uc001giz.2 - 24 3425 c.3002C>G c.(3001-3003)ACT>AGT p.T1001S SLC9A11_uc009wwe.2_Missense_Mutation_p.T559S NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 1001 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 CTGATAGGCAGTACTGAGAGC 0.318 NA 10 15 0 0 0.010729 0 0 PRG4 10216 broad.mit.edu 37 1 186276565 186276565 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:186276565A>G uc001gru.3 + 7 1765 c.1714A>G c.(1714-1716)ACC>GCC p.T572A PRG4_uc001grt.3_Missense_Mutation_p.T531A|PRG4_uc009wyl.2_Missense_Mutation_p.T479A|PRG4_uc009wym.2_Missense_Mutation_p.T438A|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 572 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|29. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TGCACCCACCACCCCCAAGAA 0.642 NA 3 57 0 0 0.001984 0 0 CRB1 23418 broad.mit.edu 37 1 197403914 197403914 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:197403914C>G uc001gtz.2 + 9 3056 c.2921C>G c.(2920-2922)ACC>AGC p.T974S CRB1_uc010poz.1_Missense_Mutation_p.T950S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T862S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.T455S|CRB1_uc001gub.1_Missense_Mutation_p.T623S NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 974 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGAGAACTCACCAATATCACA 0.333 NA 88 54 0 0 0.01441 0 0 USH2A 7399 broad.mit.edu 37 1 216219863 216219863 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:216219863T>C uc001hku.1 - 32 6622 c.6235A>G c.(6235-6237)AAA>GAA p.K2079E NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2079 Extracellular (Potential).|Fibronectin type-III 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTGCCTTTTTGGGTGGGTTC 0.453 NA HNSCC(13;0.011) 55 22 0 0 0.01441 0 0 SLC30A10 55532 broad.mit.edu 37 1 220100417 220100417 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:220100417T>C uc001hlw.2 - 2 882 c.671A>G c.(670-672)GAA>GGA p.E224G SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlx.2_5'UTR NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 224 Cytoplasmic (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) CATCATGTCTTCTGGCTCATT 0.378 Colon(76;360 1614 43677 51136) NA 63 43 0 0 0.01441 0 0 FAM177B 400823 broad.mit.edu 37 1 222923317 222923317 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:222923317C>A uc001hnt.2 + 6 660 c.394C>A c.(394-396)CCT>ACT p.P132T uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA NM_207468 NP_997351 A6PVY3 F177B_HUMAN hypothetical protein LOC400823 132 ovary(1) 1 AGCTGAGGTTCCTAATGAAAA 0.448 NA 56 45 2.30037e-20 3.2896e-20 0.01441 1 0 RYR2 6262 broad.mit.edu 37 1 237538083 237538083 + Nonsense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:237538083G>T uc001hyl.1 + 7 571 c.451G>T c.(451-453)GAG>TAG p.E151* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 151 Cytoplasmic (By similarity).|MIR 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGCTTGCAAGAGGACACCAC 0.493 NA 19 5 2.4624e-09 2.99056e-09 0.008871 1 0 RYR2 6262 broad.mit.edu 37 1 237580397 237580397 + Silent SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:237580397T>A uc001hyl.1 + 11 942 c.822T>A c.(820-822)CTT>CTA p.L274L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 274 Cytoplasmic (By similarity).|MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CACGTTCCCTTTGGAGACTAG 0.428 NA 28 21 0 0 0.009535 0 0 RYR2 6262 broad.mit.edu 37 1 237947531 237947531 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:237947531A>G uc001hyl.1 + 90 12639 c.12519A>G c.(12517-12519)ATA>ATG p.I4173M RYR2_uc010pya.1_Missense_Mutation_p.I588M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4173 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACAGTTCATATTTGACGTGG 0.502 NA 34 85 0 0 0.015359 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243542029 243542029 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:243542029G>C uc001hzw.2 + 13 1636 c.1480G>C c.(1480-1482)GAG>CAG p.E494Q SDCCAG8_uc010pyk.1_Missense_Mutation_p.E349Q|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E306Q|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E306Q NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 494 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TAAGGAAATAGAGAAATTGAG 0.388 NA 25 56 0 0 0.021523 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243579122 243579123 + Missense_Mutation DNP GA GA TG TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:243579122_243579123GA>TG uc001hzw.2 + 14 1891_1892 c.1735_1736GA>TG c.(1735-1737)GAC>TGC p.D579C SDCCAG8_uc010pyk.1_Missense_Mutation_p.D434C|SDCCAG8_uc010pyl.1_Missense_Mutation_p.D391C|SDCCAG8_uc001hzx.2_Intron NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 579 Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) GGCCCAGCATGACAAAACTGGT 0.52 NA 5 11 0 0 0.004672 0 0 OR2L2 26246 broad.mit.edu 37 1 248201826 248201826 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:248201826A>G uc001idw.2 + 1 353 c.257A>G c.(256-258)TAT>TGT p.Y86C OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) gattttctgtatggaaacaag 0.308 NA 105 269 0 0 0.01441 0 0 OR2M2 391194 broad.mit.edu 37 1 248343519 248343519 + Missense_Mutation SNP G G A rs143926960 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:248343519G>A uc010pzf.1 + 1 232 c.232G>A c.(232-234)GTA>ATA p.V78I NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTGCACCACCGTACCCAAGAT 0.507 NA 25 389 0 0 0.00632 0 0 OR14C36 127066 broad.mit.edu 37 1 248512680 248512680 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:248512680C>A uc010pzl.1 + 1 604 c.604C>A c.(604-606)CTG>ATG p.L202M NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TGTCTCTGCTCTGGGGGTAGG 0.483 NA 69 48 1.48005e-37 2.36695e-37 0.01441 1 0 OR2T2 401992 broad.mit.edu 37 1 248616203 248616203 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:248616203C>A uc001iek.1 + 1 105 c.105C>A c.(103-105)ATC>ATA p.I35I NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTTCTCCATCTTTGTGGTGG 0.532 NA 24 215 1.64293e-13 2.17845e-13 0.01892 1 0 VIM 7431 broad.mit.edu 37 10 17271973 17271973 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:17271973C>T uc001iou.2 + 2 965 c.552C>T c.(550-552)CGC>CGT p.R184R uc001iot.1_RNA|VIM_uc001iov.1_Silent_p.R184R|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.R184R|VIM_uc001ioy.1_Silent_p.R184R|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.R184R|VIM_uc001ipc.1_Silent_p.R184R NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 184 Rod.|Coil 1B. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 ACATCATGCGCCTCCGGGAGA 0.697 NA 7 3 0 0 0.001984 0 0 ARMC3 219681 broad.mit.edu 37 10 23290868 23290868 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:23290868G>T uc001irm.3 + 12 1529 c.1446G>T c.(1444-1446)TTG>TTT p.L482F ARMC3_uc010qcv.1_Missense_Mutation_p.L482F|ARMC3_uc010qcw.1_Missense_Mutation_p.L219F NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 482 ARM 12. binding 0 CTGGTGGATTGGAGCCCCTGG 0.428 NA 15 4 6.31663e-08 7.37233e-08 0.003163 1 0 APBB1IP 54518 broad.mit.edu 37 10 26789819 26789819 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:26789819G>T uc001iss.2 + 5 553 c.232G>T c.(232-234)GCT>TCT p.A78S APBB1IP_uc001isr.2_Missense_Mutation_p.A78S|APBB1IP_uc009xks.1_Missense_Mutation_p.A78S NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 78 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CATAAGTGAGGCTGAGCAGAG 0.438 NA 35 40 6.53348e-20 9.27975e-20 0.017118 1 0 NRG3 10718 broad.mit.edu 37 10 84498383 84498383 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:84498383C>G uc001kco.2 + 3 1031 c.1004C>G c.(1003-1005)ACT>AGT p.T335S NRG3_uc010qlz.1_Missense_Mutation_p.T335S|NRG3_uc001kcp.2_Missense_Mutation_p.T114S|NRG3_uc001kcq.2_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 335 Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CTGCCGAAAACTGATTCCATC 0.408 NA 52 8 0 0 0.01441 0 0 FAM190B 54462 broad.mit.edu 37 10 86131530 86131530 + Nonsense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:86131530C>A uc001kdh.1 + 2 916 c.722C>A c.(721-723)TCA>TAA p.S241* FAM190B_uc001kdg.1_Nonsense_Mutation_p.S241*|FAM190B_uc010qmd.1_Nonsense_Mutation_p.S241* NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 241 ovary(3)|skin(1) 4 ATAACCAGATCACATTCCTTT 0.363 NA 16 62 2.23348e-06 2.50222e-06 0.004007 1 0 WAPAL 23063 broad.mit.edu 37 10 88221029 88221029 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:88221029T>A uc001kdo.2 - 10 2828 c.2386A>T c.(2386-2388)ATG>TTG p.M796L WAPAL_uc009xsv.2_Missense_Mutation_p.M110L|WAPAL_uc001kdn.2_Missense_Mutation_p.M833L|WAPAL_uc009xsw.2_Missense_Mutation_p.M790L NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 796 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 AATGTCTCCATAGCTAAATGC 0.348 NA 53 5 0 0 0.01441 0 0 DMBT1 1755 broad.mit.edu 37 10 124358481 124358481 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:124358481C>A uc001lgk.1 + 26 3254 c.3148C>A c.(3148-3150)CAG>AAG p.Q1050K DMBT1_uc001lgl.1_Missense_Mutation_p.Q1040K|DMBT1_uc001lgm.1_Missense_Mutation_p.Q551K|DMBT1_uc009xzz.1_Missense_Mutation_p.Q1050K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.Q11K NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1050 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCGGTTTGGTCAGGGCTCAGG 0.602 Ovarian(182;93 2026 18125 22222 38972) NA 118 14 1.16775e-40 1.88187e-40 0.01441 1 0 LOC399815 399815 broad.mit.edu 37 10 124647838 124647838 + Nonsense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:124647838C>G uc001lgu.3 + 7 1105 c.207C>G c.(205-207)TAC>TAG p.Y69* LOC399815_uc010qua.1_Nonsense_Mutation_p.Y31* RecName: Full=Putative uncharacterized C10orf88-like protein; 0 ATGCTGGATACAAGCAAATGA 0.393 NA 22 5 0 0 0.01892 0 0 ADAM12 8038 broad.mit.edu 37 10 127755307 127755307 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:127755307C>A uc001ljk.2 - 13 1814 c.1401G>T c.(1399-1401)GGG>GGT p.G467G ADAM12_uc010qul.1_Silent_p.G418G|ADAM12_uc001ljm.2_Silent_p.G467G|ADAM12_uc001ljn.2_Silent_p.G464G|ADAM12_uc001ljl.3_Silent_p.G464G NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 467 Extracellular (Potential).|Disintegrin. 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) CACAGCACAGCCCATGTGCGC 0.562 NA 11 23 6.40141e-05 6.89509e-05 0.010729 1 0 PPP2R2D 55844 broad.mit.edu 37 10 133758916 133758916 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr10:133758916G>A uc001lks.2 + 5 917 c.674G>A c.(673-675)CGC>CAC p.R225H PPP2R2D_uc001lkr.2_Missense_Mutation_p.R31H|PPP2R2D_uc001lkt.2_Missense_Mutation_p.R31H|PPP2R2D_uc009yay.2_Missense_Mutation_p.R93H NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 258 WD 4. cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) GGGACCATCCGCCTGTGTGAC 0.468 NA 9 32 0 0 0.006214 0 0 OR51F1 256892 broad.mit.edu 37 11 4790455 4790455 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:4790455G>A uc010qyl.1 - 1 693 c.693C>T c.(691-693)GCC>GCT p.A231A NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 231 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CTTCAGGGGAGGCAATTCTGA 0.458 NA 48 54 0 0 0.01441 0 0 OR2D3 120775 broad.mit.edu 37 11 6942637 6942637 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:6942637C>A uc010rav.1 + 1 405 c.405C>A c.(403-405)TCC>TCA p.S135S NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 135 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGTGATGTCCTATGACCGGT 0.502 NA 29 75 7.01153e-11 8.7176e-11 0.007291 1 0 ZNF215 7762 broad.mit.edu 37 11 6977310 6977310 + Nonsense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:6977310C>T uc001mey.2 + 7 1690 c.1102C>T c.(1102-1104)CGA>TGA p.R368* ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Nonsense_Mutation_p.R130*|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 368 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TACAGATATTCGACACCAAAA 0.333 NA 22 24 0 0 0.012319 0 0 ADM 133 broad.mit.edu 37 11 10327535 10327536 + Silent DNP GC GC TA TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:10327535_10327536GC>TA uc001mik.1 + 2 755_756 c.138_139GC>TA c.(136-141)CTGCGG>CTTAGG p.46_47LR>LR ADM_uc001mil.1_Silent_p.46_47LR>LR|ADM_uc001mim.1_5'UTR NM_001124 NP_001115 P35318 ADML_HUMAN adrenomedullin precursor 46_47 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1) 1 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) AGAGGGAACTGCGGATGTCCAG 0.634 NA 10 7 0 0 0.004672 0 0 MICAL2 9645 broad.mit.edu 37 11 12263846 12263846 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:12263846G>A uc001mjz.2 + 19 2711 c.2423G>A c.(2422-2424)AGA>AAA p.R808K MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.R808K|MICAL2_uc010rci.1_Missense_Mutation_p.R808K|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 808 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) AGACCTTGGAGAGCCAGAGCC 0.607 NA 9 17 0 0 0.010729 0 0 PARVA 55742 broad.mit.edu 37 11 12518121 12518121 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:12518121A>G uc001mki.2 + 5 566 c.517A>G c.(517-519)AGG>GGG p.R173G PARVA_uc010rck.1_Missense_Mutation_p.R120G NM_018222 NP_060692 Q9NVD7 PARVA_HUMAN parvin, alpha 173 CH 1. cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3) 3 Epithelial(150;0.00624) ACTTCCTCCCAGGAGCATCAA 0.493 NA 7 13 0 0 0.004482 0 0 IGSF22 283284 broad.mit.edu 37 11 18731191 18731191 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:18731191G>C uc009yht.2 - 18 2931 c.2741C>G c.(2740-2742)TCC>TGC p.S914C IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 813 Fibronectin type-III 2. ovary(4)|large_intestine(2)|kidney(1) 7 GGAGTTGGAGGAATCAGATAC 0.572 NA 5 8 0 0 0.001168 0 0 NDUFS3 4722 broad.mit.edu 37 11 47603679 47603679 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:47603679A>G uc001nga.2 + 5 503 c.421A>G c.(421-423)ATC>GTC p.I141V NDUFS3_uc001nft.3_Missense_Mutation_p.I120V NM_004551 NP_004542 O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3 141 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) CAACTCACGGATCCGTGTGAA 0.522 Pancreas(15;551 601 22438 23457 52512) NA 5 78 0 0 0.001168 0 0 FOLH1 2346 broad.mit.edu 37 11 49204782 49204782 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:49204782C>A uc001ngy.2 - 7 1100 c.839G>T c.(838-840)AGG>ATG p.R280M FOLH1_uc001ngz.2_Missense_Mutation_p.R280M|FOLH1_uc009yly.2_Missense_Mutation_p.R265M|FOLH1_uc009ylz.2_Missense_Mutation_p.R265M|FOLH1_uc009yma.2_Translation_Start_Site NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 280 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) AATTCCACGCCTATAAGCATA 0.338 NA 15 43 1.99824e-07 2.2876e-07 0.00499 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798274 55798274 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:55798274G>A uc010riw.1 + 1 380 c.380G>A c.(379-381)TGC>TAC p.C127Y NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) GCAGCCATCTGCAACCCACTG 0.463 NA 16 49 0 0 0.003163 0 0 OR8J3 81168 broad.mit.edu 37 11 55904560 55904560 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:55904560A>T uc010riz.1 - 1 635 c.635T>A c.(634-636)ATT>AAT p.I212N NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TAGAACTGTAATCATGGAAAA 0.358 NA 37 32 0 0 0.019004 0 0 NPAS4 266743 broad.mit.edu 37 11 66191875 66191875 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:66191875C>T uc001ohx.1 + 7 1690 c.1514C>T c.(1513-1515)ACC>ATC p.T505I NPAS4_uc010rpc.1_Missense_Mutation_p.T295I NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 505 transcription, DNA-dependent DNA binding|signal transducer activity 0 ACTCCCTGCACCTCCACCTTC 0.587 NA 103 93 0 0 0.01441 0 0 SPTBN2 6712 broad.mit.edu 37 11 66455339 66455339 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:66455339C>A uc001ojd.2 - 33 6573 c.6501G>T c.(6499-6501)CCG>CCT p.P2167P SPTBN2_uc001ojc.1_Missense_Mutation_p.R28L NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2167 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GGGAACTCACCGGCCCTTCGG 0.607 NA 32 35 1.836e-18 2.58149e-18 0.017118 1 0 PTPRCAP 5790 broad.mit.edu 37 11 67203241 67203241 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:67203241G>T uc001oli.1 - 2 647 c.584C>A c.(583-585)GCA>GAA p.A195E NM_005608 NP_005599 Q14761 PTCA_HUMAN protein tyrosine phosphatase, receptor type, 195 defense response integral to membrane|plasma membrane 0 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GCCCCCAGCTGCCCTGGCGCT 0.687 NA 10 10 9.70103e-10 1.18852e-09 0.008291 1 0 GRM5 2915 broad.mit.edu 37 11 88780709 88780709 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:88780709T>A uc001pcq.2 - 1 532 c.332A>T c.(331-333)GAG>GTG p.E111V GRM5_uc009yvm.2_Missense_Mutation_p.E111V|GRM5_uc009yvn.1_Missense_Mutation_p.E111V NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 111 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCTTATGAACTCAATGCTCTG 0.517 NA 7 21 0 0 0.001984 0 0 FAT3 120114 broad.mit.edu 37 11 92088374 92088374 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:92088374G>T uc001pdj.3 + 1 3113 c.3096G>T c.(3094-3096)GTG>GTT p.V1032V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1032 Cadherin 9.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGAAGTGGTGGATGTCAATG 0.468 NA TCGA Ovarian(4;0.039) 20 13 2.37509e-13 3.11963e-13 0.010504 1 0 HEPHL1 341208 broad.mit.edu 37 11 93837701 93837701 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:93837701A>G uc001pep.2 + 16 2847 c.2690A>G c.(2689-2691)TAT>TGT p.Y897C uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 897 Plastocyanin-like 5.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CAGGATACGTATAGTGGTTTG 0.353 NA 26 13 0 0 0.007291 0 0 CNTN5 53942 broad.mit.edu 37 11 100061936 100061936 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:100061936G>A uc001pga.2 + 14 1998 c.1659G>A c.(1657-1659)GGG>GGA p.G553G CNTN5_uc009ywv.1_Silent_p.G553G|CNTN5_uc001pfz.2_Silent_p.G553G|CNTN5_uc001pgb.2_Silent_p.G479G|CNTN5_uc010ruk.1_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 553 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TTTGCCGAGGGGAAAACGTCT 0.403 NA 6 15 0 0 0.001984 0 0 NTM 50863 broad.mit.edu 37 11 132081940 132081940 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:132081940C>T uc001qgp.2 + 3 1089 c.425C>T c.(424-426)TCT>TTT p.S142F NTM_uc001qgm.2_Missense_Mutation_p.S142F|NTM_uc010sch.1_Missense_Mutation_p.S133F|NTM_uc010sci.1_Missense_Mutation_p.S142F|NTM_uc010scj.1_Missense_Mutation_p.S101F|NTM_uc001qgo.2_Missense_Mutation_p.S142F|NTM_uc001qgq.2_Missense_Mutation_p.S142F|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 142 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GTAGAGATTTCTTCAGATATC 0.393 NA 14 19 0 0 0.020292 0 0 AKAP3 10566 broad.mit.edu 37 12 4737626 4737626 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:4737626C>T uc001qnb.3 - 4 671 c.442G>A c.(442-444)GAT>AAT p.D148N NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 148 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TCAGAGCCATCGATCTTCTCA 0.453 NA 11 160 0 0 0.010729 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717085 13717085 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:13717085G>A uc001rbt.2 - 13 3266 c.3087C>T c.(3085-3087)TCC>TCT p.S1029S NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1029 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTGCTTGGAGGAGGGGAGGC 0.592 NA 6 21 0 0 0.001984 0 0 SLC2A13 114134 broad.mit.edu 37 12 40441975 40441975 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:40441975C>A uc010skm.1 - 2 645 c.594G>T c.(592-594)GAG>GAT p.E198D SLC2A13_uc001rmf.2_Missense_Mutation_p.E198D NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 198 Helical; Name=4; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) GTGGTGAGACCTCCGCAATGT 0.403 NA HNSCC(50;0.14) 74 109 2.40982e-25 3.65838e-25 0.01441 1 0 ARID2 196528 broad.mit.edu 37 12 46230616 46230616 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:46230616A>G uc001ros.1 + 8 865 c.865A>G c.(865-867)ATT>GTT p.I289V ARID2_uc001ror.2_Missense_Mutation_p.I289V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 289 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGTACTTCAGATTGCAGTGAT 0.418 NA 17 126 0 0 0.004007 0 0 MLL2 8085 broad.mit.edu 37 12 49445464 49445465 + Nonsense_Mutation DNP CC CC AA TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:49445464_49445465CC>AA uc001rta.3 - 10 2001_2002 c.2001_2002GG>TT c.(1999-2004)GAGGAA>GATTAA p.667_668EE>D* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 667_668 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich. 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 AAGGGAGATTCCTCAGGCGGTG 0.644 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 27 36 0 0 0.004672 0 0 GALNT6 11226 broad.mit.edu 37 12 51773084 51773084 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:51773084C>A uc001ryk.2 - 2 707 c.482G>T c.(481-483)CGA>CTA p.R161L GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.R161L|GALNT6_uc010snh.1_Missense_Mutation_p.R161L NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 161 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 CTCAGGTGGTCGGGTGTCTGG 0.562 NA 10 32 5.50884e-06 6.12255e-06 0.013537 1 0 KRT2 3849 broad.mit.edu 37 12 53044148 53044148 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:53044148C>A uc001sat.2 - 2 808 c.775G>T c.(775-777)GAT>TAT p.D259Y NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 259 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) TCCACAAGATCCTGCATGTTA 0.463 NA 65 96 2.81305e-35 4.48163e-35 0.01441 1 0 SP7 121340 broad.mit.edu 37 12 53722249 53722249 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:53722249C>G uc001sct.2 - 2 1084 c.977G>C c.(976-978)TGC>TCC p.C326S SP7_uc001scu.2_Missense_Mutation_p.C308S|SP7_uc001scv.2_Missense_Mutation_p.C326S NM_152860 NP_690599 Q8TDD2 SP7_HUMAN osterix 326 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGCCAGTTGCAGACGAAGGG 0.612 NA 18 31 0 0 0.006122 0 0 MYO1A 4640 broad.mit.edu 37 12 57422590 57422590 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:57422590C>A uc001smw.3 - 28 3324 c.3081G>T c.(3079-3081)AAG>AAT p.K1027N MYO1A_uc010sqz.1_Missense_Mutation_p.K865N|MYO1A_uc009zpd.2_Missense_Mutation_p.K1027N NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 1027 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 TGTAGCGTAGCTTGCTGTTGT 0.542 NA 38 39 6.2361e-21 9.0101e-21 0.007835 1 0 KIF5A 3798 broad.mit.edu 37 12 57960909 57960909 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:57960909G>T uc001sor.1 + 7 710 c.502G>T c.(502-504)GGT>TGT p.G168C KIF5A_uc010srr.1_Missense_Mutation_p.G79C NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 168 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 TCCCCCACAGGGTTGTACTGA 0.348 NA 40 58 1.57945e-13 2.10092e-13 0.011902 1 0 PIP4K2C 79837 broad.mit.edu 37 12 57989697 57989697 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:57989697C>T uc001sou.2 + 4 527 c.396C>T c.(394-396)AGC>AGT p.S132S PIP4K2C_uc001sot.2_Silent_p.S132S|PIP4K2C_uc010srs.1_Silent_p.S114S|PIP4K2C_uc010srt.1_Intron NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 132 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) ACCCCCCCAGCGAAAGTGAAG 0.493 NA 7 68 0 0 0.00308 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57994654 57994654 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:57994654C>T uc001sou.2 + 8 1005 c.874C>T c.(874-876)CGG>TGG p.R292W PIP4K2C_uc001sot.2_Missense_Mutation_p.R292W|PIP4K2C_uc010srs.1_Missense_Mutation_p.R274W|PIP4K2C_uc010srt.1_Missense_Mutation_p.R244W NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 292 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) CGACATCATTCGGGGCTCTGA 0.562 NA 31 239 0 0 0.013726 0 0 IRAK3 11213 broad.mit.edu 37 12 66638982 66638982 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:66638982C>T uc001sth.2 + 11 1356 c.1254C>T c.(1252-1254)CTC>CTT p.L418L IRAK3_uc010ssy.1_Silent_p.L357L NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 418 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) CTGCCAAGCTCTTCTGTTTGG 0.463 NA 53 59 0 0 0.01441 0 0 TRHDE 29953 broad.mit.edu 37 12 72936110 72936110 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:72936110C>A uc001sxa.2 + 7 1657 c.1627C>A c.(1627-1629)CAT>AAT p.H543N NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 543 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TTTTATGGGCCATTCAGTTTT 0.308 NA 18 59 2.54575e-18 3.56745e-18 0.010504 1 0 PPFIA2 8499 broad.mit.edu 37 12 81751934 81751934 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:81751934G>A uc001szo.1 - 16 1861 c.1700C>T c.(1699-1701)TCT>TTT p.S567F PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 493 ovary(3)|lung(2)|pancreas(1) 6 TCTGTAATCAGACTGGCTGTC 0.418 NA 4 6 0 0 0.009096 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449837 85449837 + Silent SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:85449837A>T uc001tac.2 + 8 1377 c.1266A>T c.(1264-1266)ATA>ATT p.I422I LRRIQ1_uc001tab.1_Silent_p.I422I|LRRIQ1_uc001taa.1_Silent_p.I397I NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 422 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) AGGGTGATATAGCCAAAAATC 0.323 NA 49 84 0 0 0.01441 0 0 MYBPC1 4604 broad.mit.edu 37 12 102038549 102038549 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr12:102038549G>T uc001tii.2 + 10 967 c.865G>T c.(865-867)GGT>TGT p.G289C MYBPC1_uc001tif.1_Missense_Mutation_p.G302C|MYBPC1_uc001tig.2_Missense_Mutation_p.G314C|MYBPC1_uc010svq.1_Missense_Mutation_p.G276C|MYBPC1_uc001tih.2_Missense_Mutation_p.G314C|MYBPC1_uc001tij.2_Missense_Mutation_p.G289C|MYBPC1_uc010svr.1_Missense_Mutation_p.G289C|MYBPC1_uc010svs.1_Missense_Mutation_p.G289C|MYBPC1_uc010svt.1_Missense_Mutation_p.G277C|MYBPC1_uc010svu.1_Missense_Mutation_p.G270C|MYBPC1_uc001tik.2_Missense_Mutation_p.G263C NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 289 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 GTATAAAAATGGTCAAGAAAT 0.393 NA 19 27 8.10497e-08 9.43329e-08 0.010504 1 0 SACS 26278 broad.mit.edu 37 13 23915110 23915110 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr13:23915110T>A uc001uon.2 - 10 3494 c.2905A>T c.(2905-2907)AGT>TGT p.S969C SACS_uc001uoo.2_Missense_Mutation_p.S822C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 969 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCATCACTACTGTCTATTACT 0.358 NA 43 18 0 0 0.00874 0 0 C13orf33 84935 broad.mit.edu 37 13 31495960 31495960 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr13:31495960G>T uc001uth.3 + 4 1105 c.764G>T c.(763-765)CGA>CTA p.R255L uc001utg.1_Intron NM_032849 NP_116238 Q5VYS4 CM033_HUMAN hypothetical protein LOC84935 255 0 Lung SC(185;0.0281) all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244) TTCTCTGACCGAAAGTTCAGT 0.363 NA 29 6 1.04266e-39 1.67385e-39 0.021022 1 0 NBEA 26960 broad.mit.edu 37 13 36167465 36167465 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr13:36167465G>A uc001uvb.2 + 47 7383 c.7177G>A c.(7177-7179)GAA>AAA p.E2393K NBEA_uc010abi.2_Missense_Mutation_p.E1049K|NBEA_uc010tee.1_Missense_Mutation_p.E186K|NBEA_uc010tef.1_Missense_Mutation_p.E186K|NBEA_uc010teg.1_Missense_Mutation_p.E186K|NBEA_uc001uvd.2_5'UTR NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2393 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTTGCTTAGGAACCTTTCAC 0.408 NA 32 5 0 0 0.012213 0 0 POTEG 404785 broad.mit.edu 37 14 19553741 19553741 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr14:19553741T>A uc001vuz.1 + 1 377 c.325T>A c.(325-327)TGC>AGC p.C109S POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 109 ovary(1) 1 CTTCCCCTGCTGCAGGGGGAG 0.592 NA 44 250 0 0 0.01441 0 0 SSTR1 6751 broad.mit.edu 37 14 38679067 38679067 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr14:38679067C>T uc001wul.1 + 3 1090 c.473C>T c.(472-474)GCC>GTC p.A158V SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 158 Cytoplasmic (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CGCTACGTGGCCGTGGTGCAT 0.647 NA 39 11 0 0 0.007835 0 0 RTN1 6252 broad.mit.edu 37 14 60193880 60193880 + Nonsense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr14:60193880C>A uc001xen.1 - 3 1731 c.1522G>T c.(1522-1524)GAG>TAG p.E508* RTN1_uc001xem.1_Nonsense_Mutation_p.E88* NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 508 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGCGCACGCTCCTCGGCCCGG 0.731 NA 3 1 0.004672 0.0048335 0.004672 1 0 SPTB 6710 broad.mit.edu 37 14 65289696 65289696 + Silent SNP G G T rs147811055 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr14:65289696G>T uc001xht.2 - 1 171 c.117C>A c.(115-117)CTC>CTA p.L39L SPTB_uc001xhr.2_Silent_p.L39L|SPTB_uc001xhs.2_Silent_p.L39L|SPTB_uc001xhu.2_Silent_p.L39L NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 39 Actin-binding. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ACCTCTCAAAGAGCCTGGCTG 0.562 NA OREG0022736 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 9 2.35958e-20 3.36281e-20 0.009718 1 0 ACOT4 122970 broad.mit.edu 37 14 74061971 74061971 + Silent SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr14:74061971G>C uc001xoo.2 + 3 1133 c.879G>C c.(877-879)GTG>GTC p.V293V NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 293 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) TGGACATTGTGGATATAAGGA 0.507 NA 28 6 0 0 0.007291 0 0 TMEM90A 646658 broad.mit.edu 37 14 74876055 74876055 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr14:74876055C>T uc001xpx.2 - 2 641 c.393G>A c.(391-393)CAG>CAA p.Q131Q NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 131 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) GGTCATCCTCCTGGTCCCGCA 0.433 NA 75 12 0 0 0.01441 0 0 KIAA0284 283638 broad.mit.edu 37 14 105350364 105350364 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr14:105350364G>C uc010axb.2 + 9 1472 c.1248G>C c.(1246-1248)AAG>AAC p.K416N INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.K346N|KIAA0284_uc001yps.2_Missense_Mutation_p.K322N NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 416 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CACCCCGAAAGAAGCGCTCCC 0.652 NA 4 1 0 0 0.014758 0 0 C15orf2 23742 broad.mit.edu 37 15 24921226 24921226 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:24921226C>A uc001ywo.2 + 1 686 c.212C>A c.(211-213)CCG>CAG p.P71Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 71 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCTAAGAGGCCGTGTCCTCTC 0.701 NA 8 16 0.00621372 0.00641268 0.006214 1 0 GABRA5 2558 broad.mit.edu 37 15 27159949 27159949 + Splice_Site SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:27159949G>T uc001zbd.1 + 8 837 c.498_splice c.e8-1 p.R166_splice GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTATTTTTCAGCTTGACCATC 0.448 NA 11 15 2.27111e-07 2.58586e-07 0.013537 1 0 RYR3 6263 broad.mit.edu 37 15 33835899 33835899 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:33835899G>T uc001zhi.2 + 8 793 c.723G>T c.(721-723)CAG>CAT p.Q241H RYR3_uc010bar.2_Missense_Mutation_p.Q241H NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 241 MIR 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTACAGACCAGAATGATTCCC 0.398 NA 49 92 2.68985e-26 4.12838e-26 0.01441 1 0 RYR3 6263 broad.mit.edu 37 15 34130188 34130188 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:34130188G>A uc001zhi.2 + 89 12077 c.12007G>A c.(12007-12009)GAA>AAA p.E4003K RYR3_uc010bar.2_Missense_Mutation_p.E3998K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4003 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAATCTTTCTGAACACATGCC 0.448 NA 56 61 0 0 0.01441 0 0 MGA 23269 broad.mit.edu 37 15 42005461 42005461 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:42005461G>T uc001zog.1 + 9 3288 c.3197G>T c.(3196-3198)CGC>CTC p.R1066L MGA_uc010ucy.1_Missense_Mutation_p.R1066L|MGA_uc010ucz.1_Missense_Mutation_p.R1066L NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 1066 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTGGAGAAGCGCCAACCTGCT 0.448 NA 32 33 5.90632e-09 7.11135e-09 0.012213 1 0 TGM5 9333 broad.mit.edu 37 15 43552773 43552773 + Silent SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:43552773T>C uc001zrd.1 - 2 23 c.15A>G c.(13-15)CTA>CTG p.L5L TGM5_uc001zre.1_Silent_p.L5L NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 5 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GGGCCACTTCTAGCCCTGCAA 0.453 NA 46 32 0 0 0.01441 0 0 ATP8B4 79895 broad.mit.edu 37 15 50154564 50154564 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:50154564G>T uc001zxu.2 - 27 3317 c.3175C>A c.(3175-3177)CGA>AGA p.R1059R ATP8B4_uc010ber.2_Silent_p.R932R|ATP8B4_uc010ufd.1_Silent_p.R869R|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.R62R NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1059 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AGGGAATGTCGTGCATTACCT 0.358 NA 27 26 9.39395e-14 1.25352e-13 0.00632 1 0 ATP8B4 79895 broad.mit.edu 37 15 50158550 50158550 + Silent SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:50158550T>A uc001zxu.2 - 26 3301 c.3159A>T c.(3157-3159)CCA>CCT p.P1053P ATP8B4_uc010ber.2_Silent_p.P926P|ATP8B4_uc010ufd.1_Silent_p.P863P|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.P56P NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1053 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TACCAACAAATGGAAACTGGT 0.388 NA 25 52 0 0 0.021523 0 0 C15orf27 123591 broad.mit.edu 37 15 76496245 76496245 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:76496245C>T uc002bbq.2 + 11 1340 c.1185C>T c.(1183-1185)ACC>ACT p.T395T C15orf27_uc010bkp.2_Silent_p.T211T|C15orf27_uc002bbr.2_Silent_p.T211T|C15orf27_uc002bbs.2_Silent_p.T73T NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 395 integral to membrane 0 GCTCAGTCACCCGGGCCCAGA 0.677 NA 23 17 0 0 0.016522 0 0 ZNF592 9640 broad.mit.edu 37 15 85325992 85325992 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr15:85325992C>T uc002bld.2 + 4 422 c.86C>T c.(85-87)GCC>GTC p.A29V ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 29 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCAAGGAGGCCATCCAGACA 0.537 NA 25 64 0 0 0.004656 0 0 WDR90 197335 broad.mit.edu 37 16 716315 716315 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:716315G>T uc002cii.1 + 37 4759 c.4705G>T c.(4705-4707)GCC>TCC p.A1569S WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.A184S|WDR90_uc010uul.1_Missense_Mutation_p.A168S|WDR90_uc002cio.1_Missense_Mutation_p.A168S|WDR90_uc010bqx.1_Missense_Mutation_p.A168S|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1569 WD 20. ovary(1) 1 Hepatocellular(780;0.0218) CCACCAGGGCGCCCCAATCTC 0.627 NA 25 26 2.44723e-14 3.28651e-14 0.004656 1 0 NAT15 79903 broad.mit.edu 37 16 3533373 3533373 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:3533373A>T uc002cvh.3 + 6 594 c.348A>T c.(346-348)TTA>TTT p.L116F NAT15_uc010uxb.1_Missense_Mutation_p.L123F|NAT15_uc010btk.1_Missense_Mutation_p.L51F|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Missense_Mutation_p.L116F|NAT15_uc010uxc.1_Missense_Mutation_p.L116F|NAT15_uc010uxd.1_Intron|NAT15_uc010uxe.1_Intron|NAT15_uc002cvg.1_Missense_Mutation_p.L116F NM_001083601 NP_001077070 Q9H7X0 NAT15_HUMAN N-acetyltransferase 15 116 N-acetyltransferase. N-acetyltransferase activity 0 GTTCCCTCTTACTTGAAAGTT 0.488 NA 3 13 0 0 0.004672 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857220 9857220 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:9857220T>A uc002czo.3 - 13 4729 c.4181A>T c.(4180-4182)CAG>CTG p.Q1394L GRIN2A_uc010uym.1_Missense_Mutation_p.Q1394L|GRIN2A_uc010uyn.1_Missense_Mutation_p.R1123W|GRIN2A_uc002czr.3_Missense_Mutation_p.R1280W NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1394 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATTCACCGCCTGGGATGGCAA 0.542 NA 21 32 0 0 0.012319 0 0 Unknown 0 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:15457701G>A uc010bvf.1 - 9 812 c.812C>T c.(811-813)GCT>GTT p.A271V RecName: Full=NPIP-like protein 1; NA AGGGGAGTGAGCAGACACTCG 0.562 NA 4 93 0 0 0.001984 0 0 ACSM5 54988 broad.mit.edu 37 16 20451223 20451223 + Silent SNP A A G rs112747866 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:20451223A>G uc002dhe.2 + 13 1785 c.1638A>G c.(1636-1638)CCA>CCG p.P546P NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 546 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TGACTGCTCCATACAAATACC 0.448 NA 22 41 0 0 0.012319 0 0 ITGAX 3687 broad.mit.edu 37 16 31372509 31372509 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:31372509G>A uc002ebu.1 + 9 1054 c.987G>A c.(985-987)CTG>CTA p.L329L ITGAX_uc002ebt.2_Silent_p.L329L|ITGAX_uc010vfk.1_5'Flank NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 329 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAAACCAACTGAAGGAGAAGA 0.453 NA 51 79 0 0 0.01441 0 0 CDH8 1006 broad.mit.edu 37 16 61689397 61689397 + Nonsense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:61689397A>T uc002eog.1 - 11 2135 c.1883T>A c.(1882-1884)TTA>TAA p.L628* NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 628 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GATGCATGCTAATATGGCAAT 0.438 NA 23 37 0 0 0.021523 0 0 CENPT 80152 broad.mit.edu 37 16 67864378 67864378 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:67864378G>A uc002eun.3 - 11 1326 c.777C>T c.(775-777)CCC>CCT p.P259P CENPT_uc002eum.3_Silent_p.P259P|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Silent_p.P12P|CENPT_uc010vke.1_3'UTR NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 259 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) GAGGCGTGCAGGGCAGGGAGT 0.597 NA 7 14 0 0 0.001984 0 0 LRRC50 123872 broad.mit.edu 37 16 84182725 84182725 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:84182725G>A uc002fhl.3 + 2 419 c.238G>A c.(238-240)GAC>AAC p.D80N LRRC50_uc010chi.1_RNA NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 80 Missing (in CILD13). axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 CCCAAGAGAAGACAGGGAAGA 0.393 NA Kartagener_syndrome 19 41 0 0 0.007413 0 0 SPG7 6687 broad.mit.edu 37 16 89613071 89613071 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr16:89613071G>T uc002fnj.2 + 11 1476 c.1455G>T c.(1453-1455)AGG>AGT p.R485S SPG7_uc002fnk.1_RNA NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 485 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GGCAGGAGAGGCGGGAGATTT 0.567 NA 3 42 0.000602214 0.000635586 0.014758 1 0 SLC13A5 284111 broad.mit.edu 37 17 6610448 6610448 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:6610448G>A uc002gdj.2 - 2 218 c.130C>T c.(130-132)CTC>TTC p.L44F SLC13A5_uc010vtf.1_Missense_Mutation_p.L44F|SLC13A5_uc010clq.2_Intron|SLC13A5_uc002gdk.2_Missense_Mutation_p.L44F|SLC13A5_uc002gdl.1_5'Flank NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 44 integral to membrane citrate transmembrane transporter activity 0 ATGGCCATGAGGATGATGACG 0.572 NA 3 12 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7579414 7579414 + Nonsense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:7579414C>T uc002gim.2 - 4 467 c.273G>A c.(271-273)TGG>TGA p.W91* TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.2_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 91 Interaction with WWOX. W -> C (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGACAGGGGCCAGGAGGGGG 0.627 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 39 10 0 0 0.005524 0 0 MYH4 4622 broad.mit.edu 37 17 10348183 10348183 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:10348183G>T uc002gmn.2 - 38 5611 c.5500C>A c.(5500-5502)CAG>AAG p.Q1834K uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1834 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTGTGCTTCTGTTCACTTTCC 0.468 NA 56 13 9.53978e-28 1.46955e-27 0.01441 1 0 MYH2 4620 broad.mit.edu 37 17 10443380 10443380 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:10443380C>T uc010coi.2 - 12 1140 c.1012G>A c.(1012-1014)GCT>ACT p.A338T uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A338T|MYH2_uc010coj.2_Missense_Mutation_p.A338T NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 338 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 ATATCAATAGCACTCTGTCAA 0.408 NA 47 14 0 0 0.011902 0 0 HOXB9 3219 broad.mit.edu 37 17 46700481 46700481 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:46700481G>C uc002inx.2 - 2 738 c.534C>G c.(532-534)AAC>AAG p.N178K NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 178 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGTGCAGCCAGTTGGCGGAGG 0.542 NA 47 56 0 0 0.01441 0 0 SPAG9 9043 broad.mit.edu 37 17 49073994 49073994 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:49073994C>T uc002itc.2 - 16 2109 c.1900G>A c.(1900-1902)GCA>ACA p.A634T SPAG9_uc002itb.2_Missense_Mutation_p.A620T|SPAG9_uc002itd.2_Missense_Mutation_p.A624T|SPAG9_uc002itf.2_Missense_Mutation_p.A455T|SPAG9_uc002ita.2_Missense_Mutation_p.A477T|SPAG9_uc002ite.2_Missense_Mutation_p.A464T NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 634 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TGAACATGTGCTTTTACCTGA 0.423 NA 12 38 0 0 0.010729 0 0 TEX14 56155 broad.mit.edu 37 17 56693591 56693591 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:56693591C>A uc010dcz.1 - 7 848 c.730G>T c.(730-732)GCT>TCT p.A244S TEX14_uc002iwr.1_Missense_Mutation_p.A238S|TEX14_uc002iws.1_Missense_Mutation_p.A238S|TEX14_uc010dda.1_Missense_Mutation_p.A18S NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 244 Protein kinase. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCATCATCAGCTTGAATCACT 0.493 NA 18 24 1.99824e-07 2.2876e-07 0.00499 1 0 CD300LD 100131439 broad.mit.edu 37 17 72584765 72584765 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:72584765G>A uc002jkz.2 - 2 293 c.264C>T c.(262-264)CAC>CAT p.H88H C17orf77_uc002jla.1_Intron NM_001115152 NP_001108624 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d precursor 88 Extracellular (Potential).|Ig-like V-type. integral to membrane|plasma membrane receptor activity 0 CGGTGAACACGTGGTTTTTCT 0.428 NA 76 96 0 0 0.01441 0 0 GRIN2C 2905 broad.mit.edu 37 17 72846704 72846704 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:72846704T>A uc002jlt.1 - 5 1472 c.1316A>T c.(1315-1317)CAC>CTC p.H439L GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.H439L|GRIN2C_uc002jlv.1_3'UTR NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 439 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CCTGAAGGTGTGGTTGCTCTG 0.642 NA 35 42 0 0 0.019004 0 0 ENGASE 64772 broad.mit.edu 37 17 77078118 77078118 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:77078118G>T uc002jwv.2 + 7 1019 c.1011G>T c.(1009-1011)GTG>GTT p.V337V ENGASE_uc002jwu.1_Silent_p.V337V|ENGASE_uc010wtz.1_Silent_p.V151V|ENGASE_uc002jww.2_5'UTR NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 337 BRCT. cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 GAGGGAACGTGGTCGGAGGCC 0.637 NA 49 51 1.19451e-25 1.82e-25 0.01441 1 0 CBX4 8535 broad.mit.edu 37 17 77808278 77808278 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:77808278G>C uc002jxe.2 - 5 1326 c.1163C>G c.(1162-1164)CCC>CGC p.P388R NM_003655 NP_003646 O00257 CBX4_HUMAN chromobox homolog 4 388 His-rich.|Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity skin(2) 2 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) gtggtgatgggggtgcgggtg 0.502 NA 3 1 0 0 0.004672 0 0 CEP192 55125 broad.mit.edu 37 18 13059303 13059303 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr18:13059303G>A uc010xac.1 + 21 4560 c.4480G>A c.(4480-4482)GTT>ATT p.V1494I CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.V1019I|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.V1235I NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1494 ovary(4)|pancreas(1) 5 CGAGAGTCCTGTTATTGAGGT 0.428 NA 4 87 0 0 0.009096 0 0 SYT4 6860 broad.mit.edu 37 18 40850395 40850395 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr18:40850395C>A uc002law.2 - 4 1558 c.1189G>T c.(1189-1191)GCA>TCA p.A397S SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.A379S|SYT4_uc010dnh.2_RNA NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 397 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 GTTCCTTCTGCTGCTGCACCC 0.493 NSCLC(85;81 1419 2855 22820 35912) NA 86 118 5.01443e-46 8.17527e-46 0.01441 1 0 NETO1 81832 broad.mit.edu 37 18 70417732 70417732 + Missense_Mutation SNP C C T rs140307788 byFrequency TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr18:70417732C>T uc002lkw.2 - 9 1390 c.1106G>A c.(1105-1107)CGT>CAT p.R369H NETO1_uc002lkx.1_Missense_Mutation_p.R368H|NETO1_uc002lky.1_Missense_Mutation_p.R369H NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 369 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ATACTTTTTACGAGGCTGTTT 0.458 NA 26 44 0 0 0.005443 0 0 ZADH2 284273 broad.mit.edu 37 18 72913607 72913607 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr18:72913607C>T uc002llx.2 - 2 1166 c.898G>A c.(898-900)GTA>ATA p.V300I ZADH2_uc010dqv.2_Missense_Mutation_p.V177I NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 300 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) AAGCCCTGTACGCTGGCAGAT 0.493 NA 32 42 0 0 0.012213 0 0 MATK 4145 broad.mit.edu 37 19 3779791 3779791 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:3779791G>T uc002lyt.2 - 9 1147 c.747C>A c.(745-747)GTC>GTA p.V249V MATK_uc002lyv.2_Silent_p.V250V|MATK_uc002lyu.2_Silent_p.V208V|MATK_uc010dtq.2_Silent_p.V249V NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 249 ATP (By similarity).|Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CACCCTGCAGGACAGCTGGGG 0.622 NA 17 4 0.00074312 0.000780369 0.006122 1 0 ARRDC5 645432 broad.mit.edu 37 19 4896732 4896732 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:4896732T>C uc002mbm.2 - 2 452 c.452A>G c.(451-453)TAC>TGC p.Y151C NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 151 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) AACCAATAAGTACATCCTCTT 0.483 NA 26 6 0 0 0.007291 0 0 MUC16 94025 broad.mit.edu 37 19 9049765 9049765 + Silent SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:9049765T>C uc002mkp.2 - 5 32070 c.31866A>G c.(31864-31866)TTA>TTG p.L10622L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10624 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATACAGTGTCTAATTCACTGT 0.483 NA 48 14 0 0 0.013114 0 0 MUC16 94025 broad.mit.edu 37 19 9063480 9063480 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:9063480G>C uc002mkp.2 - 3 24170 c.23966C>G c.(23965-23967)ACA>AGA p.T7989R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7991 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCTGGTAATGTGGAGGAAAC 0.468 NA 12 4 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9091090 9091090 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:9091090G>T uc002mkp.2 - 1 929 c.725C>A c.(724-726)CCT>CAT p.P242H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 242 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTCCCTTTAGGTGATAGGTC 0.478 NA 38 5 1.42033e-22 2.10289e-22 0.019004 1 0 ATG4D 84971 broad.mit.edu 37 19 10655478 10655478 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:10655478G>T uc002mov.2 + 2 375 c.255G>T c.(253-255)CGG>CGT p.R85R ATG4D_uc010xlg.1_Silent_p.R108R|ATG4D_uc010xlh.1_Silent_p.R22R|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_5'Flank NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 85 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TTAAAAGCCGGACCAGCTTTA 0.547 NA 31 14 2.08457e-15 2.85436e-15 0.010818 1 0 BRD4 23476 broad.mit.edu 37 19 15367954 15367954 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:15367954G>T uc002nar.2 - 8 1594 c.1372C>A c.(1372-1374)CCG>ACG p.P458T BRD4_uc002nas.2_Missense_Mutation_p.P458T|BRD4_uc002nat.3_Missense_Mutation_p.P458T|BRD4_uc002nau.3_Missense_Mutation_p.P458T NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 458 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGCTCGTCCGGCATCTTGGCA 0.652 NA T NUT|C15orf55 lethal midline carcinoma of young people 7 1 1.26484e-09 1.54061e-09 0.00308 1 0 SLC35E1 79939 broad.mit.edu 37 19 16664607 16664607 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:16664607G>A uc010xph.1 - 6 1134 c.1116C>T c.(1114-1116)CTC>CTT p.L372L MED26_uc002nee.2_RNA NM_024881 NP_079157 Q96K37 S35E1_HUMAN solute carrier family 35, member E1 372 transport integral to membrane ovary(1)|central_nervous_system(1) 2 GGGGGAAGAGGAGGCCGTTGT 0.587 NA 41 16 0 0 0.00874 0 0 KLHL26 55295 broad.mit.edu 37 19 18778558 18778558 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:18778558C>G uc002njz.1 + 3 378 c.351C>G c.(349-351)ATC>ATG p.I117M NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 117 BTB. ovary(1) 1 TGCGGCACATCATCGACTTCG 0.662 NA 25 23 0 0 0.004656 0 0 ZNF43 7594 broad.mit.edu 37 19 21992461 21992461 + Silent SNP C C T rs147543020 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:21992461C>T uc002nqj.2 - 4 508 c.378G>A c.(376-378)GTG>GTA p.V126V ZNF43_uc010ecv.2_Silent_p.V120V|ZNF43_uc002nql.2_Silent_p.V120V|ZNF43_uc002nqm.2_Silent_p.V120V|ZNF43_uc002nqk.2_Silent_p.V56V NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CTCCTCTGTGCACCTTACACT 0.323 NA 31 58 0 0 0.015359 0 0 ZNF676 163223 broad.mit.edu 37 19 22379529 22379529 + Translation_Start_Site SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:22379529C>A uc002nqs.1 - 1 225 c.-93G>T c.(-95--91)CAGGG>CATGG NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCAATGCTCCCTGGAAAACAC 0.413 NA 30 37 2.08457e-15 2.85436e-15 0.010818 1 0 ZNF99 7652 broad.mit.edu 37 19 22942366 22942366 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:22942366T>A uc010xrh.1 - 4 408 c.408A>T c.(406-408)AAA>AAT p.K136N NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTCACAATCTTTTCTTAATC 0.338 NA 23 40 0 0 0.021523 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 NA 3 41 0 0 0.004672 0 0 ZNF536 9745 broad.mit.edu 37 19 31039889 31039889 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:31039889G>T uc002nsu.1 + 4 3501 c.3363G>T c.(3361-3363)ATG>ATT p.M1121I ZNF536_uc010edd.1_Missense_Mutation_p.M1121I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) ACCCAGGCATGGTTGGCTCAG 0.562 NA 17 24 4.14922e-12 5.33289e-12 0.004007 1 0 CCDC123 84902 broad.mit.edu 37 19 33439179 33439179 + Silent SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:33439179T>C uc002nty.2 - 5 677 c.588A>G c.(586-588)CAA>CAG p.Q196Q CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Silent_p.Q196Q|CCDC123_uc002nua.2_Silent_p.Q196Q|CCDC123_uc002nub.1_Silent_p.Q88Q NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 196 centrosome|spindle pole 0 Esophageal squamous(110;0.137) TACCTTTTTGTTGTGTCCGCT 0.353 NA 19 17 0 0 0.008871 0 0 KIRREL2 84063 broad.mit.edu 37 19 36350399 36350399 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:36350399G>T uc002ocb.3 + 5 751 c.539G>T c.(538-540)GGG>GTG p.G180V KIRREL2_uc002obz.3_Missense_Mutation_p.G180V|KIRREL2_uc002oca.3_Missense_Mutation_p.G130V|KIRREL2_uc002occ.3_Missense_Mutation_p.G127V|KIRREL2_uc002ocd.3_Missense_Mutation_p.G177V NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 180 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGAAGGAAGGGACCCCTGGG 0.448 NA 19 28 1.64113e-05 1.80957e-05 0.010504 1 0 RASGRP4 115727 broad.mit.edu 37 19 38905688 38905688 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:38905688C>G uc002oir.2 - 9 1244 c.1030G>C c.(1030-1032)GCG>CCG p.A344P RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Intron|RASGRP4_uc010xub.1_Missense_Mutation_p.A310P|RASGRP4_uc010xuc.1_Intron|RASGRP4_uc010xud.1_Missense_Mutation_p.A247P|RASGRP4_uc010xue.1_Intron|RASGRP4_uc010egb.2_Missense_Mutation_p.A330P NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 344 Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity p.A344E(1) pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGGAAACCCGCGCAGCCAGCC 0.672 NA 6 5 0 0 0.001984 0 0 FCGBP 8857 broad.mit.edu 37 19 40430472 40430472 + Missense_Mutation SNP T T G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:40430472T>G uc002omp.3 - 3 1479 c.1471A>C c.(1471-1473)ATG>CTG p.M491L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 491 VWFD 1. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CAGGTGCCCATCATGTCGTAG 0.687 NA 4 6 0 0 0.009096 0 0 B3GNT8 374907 broad.mit.edu 37 19 41932338 41932338 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:41932338G>T uc002oqs.2 - 3 800 c.346C>A c.(346-348)CGC>AGC p.R116S CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron NM_198540 NP_940942 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal 116 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity 0 AAGAAGCGGCGGAGGTCCTTG 0.667 NA 13 20 0.00244969 0.00254065 0.020292 1 0 MARK4 57787 broad.mit.edu 37 19 45805710 45805710 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:45805710G>T uc002pbb.1 + 17 2006 c.2001G>T c.(1999-2001)TCG>TCT p.S667S MARK4_uc002pba.1_3'UTR Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 667 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGACCAGCTCGCGCCCTCCTG 0.677 NA 75 83 7.25294e-45 1.1779e-44 0.01441 1 0 DHDH 27294 broad.mit.edu 37 19 49439303 49439303 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:49439303G>A uc002ple.1 + 3 257 c.217G>A c.(217-219)GGC>AGC p.G73S NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN dimeric dihydrodiol dehydrogenase 73 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) GGCCTACATTGGCACCCAGCA 0.682 NA 3 10 0 0 0.009096 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52115520 52115520 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:52115520G>T uc002pxe.2 - 9 1759 c.1620C>A c.(1618-1620)AGC>AGA p.S540R NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 540 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) ACTCCGTGGTGCTTGGGGCCT 0.552 NA 41 46 6.5261e-18 9.11479e-18 0.00874 1 0 NLRP11 204801 broad.mit.edu 37 19 56320320 56320320 + Silent SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:56320320A>G uc010ygf.1 - 5 2367 c.1656T>C c.(1654-1656)AAT>AAC p.N552N NLRP11_uc002qlz.2_Silent_p.N453N|NLRP11_uc002qmb.2_Silent_p.N453N|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 552 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTTCTTCCCGATTCTCATAGA 0.433 NA 53 66 0 0 0.01441 0 0 USP29 57663 broad.mit.edu 37 19 57640629 57640629 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:57640629A>G uc002qny.2 + 4 942 c.586A>G c.(586-588)AAG>GAG p.K196E NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 196 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAAGAAATATAAGACAGATTC 0.363 NA 48 78 0 0 0.01441 0 0 ZNF418 147686 broad.mit.edu 37 19 58438312 58438312 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr19:58438312G>A uc002qqs.1 - 4 1529 c.1237C>T c.(1237-1239)CTT>TTT p.L413F ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.L328F NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 413 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TGGTTCCTAAGGTGTCCCTTT 0.463 NA 40 112 0 0 0.010771 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470989 25470989 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:25470989C>T uc002rgc.2 - 7 1029 c.772G>A c.(772-774)GTG>ATG p.V258M DNMT3A_uc002rgd.2_Missense_Mutation_p.V258M|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.V69M NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 258 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGTAGCCACAGTGGGGGAT 0.637 NA Mis|F|N|S AML 30 43 0 0 0.012213 0 0 GCKR 2646 broad.mit.edu 37 2 27726407 27726407 + Nonsense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:27726407C>A uc002rky.2 + 9 737 c.671C>A c.(670-672)TCA>TAA p.S224* GCKR_uc010ezd.2_Nonsense_Mutation_p.S224*|GCKR_uc010ylu.1_Nonsense_Mutation_p.S34* NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 224 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) GACTGGAGTTCAACATTCCGA 0.493 NA 11 17 5.16669e-11 6.44298e-11 0.010729 1 0 GCKR 2646 broad.mit.edu 37 2 27726409 27726409 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:27726409A>T uc002rky.2 + 9 739 c.673A>T c.(673-675)ACA>TCA p.T225S GCKR_uc010ezd.2_Missense_Mutation_p.T225S|GCKR_uc010ylu.1_Missense_Mutation_p.T35S NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 225 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) CTGGAGTTCAACATTCCGACA 0.498 NA 11 16 0 0 0.010729 0 0 MSH2 4436 broad.mit.edu 37 2 47643558 47643558 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:47643558A>G uc002rvy.1 + 6 1134 c.1066A>G c.(1066-1068)ATA>GTA p.I356V MSH2_uc010yoh.1_Missense_Mutation_p.I290V|MSH2_uc002rvz.2_Missense_Mutation_p.I356V|MSH2_uc010fbg.2_Missense_Mutation_p.I166V NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 356 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAAGAACAGAATAGAGGAGAG 0.383 NA D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 33 59 0 0 0.013726 0 0 MEIS1 4211 broad.mit.edu 37 2 66739408 66739408 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:66739408G>C uc002sdu.2 + 8 1327 c.870G>C c.(868-870)TGG>TGC p.W290C MEIS1_uc002sdt.2_Missense_Mutation_p.W290C|MEIS1_uc002sdv.2_Missense_Mutation_p.W288C|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Missense_Mutation_p.W225C|MEIS1_uc002sdw.1_Missense_Mutation_p.W146C NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 290 Homeobox; TALE-type. sequence-specific DNA binding transcription factor activity 0 TGAGGGCGTGGCTGTTCCAGC 0.393 NA 11 17 0 0 0.016723 0 0 REG3G 130120 broad.mit.edu 37 2 79255397 79255397 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:79255397G>C uc002snw.2 + 6 608 c.523G>C c.(523-525)GAC>CAC p.D175H REG3G_uc002snx.2_Missense_Mutation_p.D175H|REG3G_uc010ffu.2_Missense_Mutation_p.D129H NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 175 acute-phase response extracellular region sugar binding 0 CAAGTTCAAGGACTAGGGCAG 0.493 NA 19 31 0 0 0.007413 0 0 ASTL 431705 broad.mit.edu 37 2 96789882 96789882 + Missense_Mutation SNP C C A rs138508296 by1000genomes TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:96789882C>A uc010yui.1 - 9 1003 c.1003G>T c.(1003-1005)GTT>TTT p.V335F NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 335 proteolysis metalloendopeptidase activity|zinc ion binding 0 CCTGCAGGAACGGGCTGGCCT 0.672 NA 22 33 7.41877e-09 8.90678e-09 0.012319 1 0 CHST10 9486 broad.mit.edu 37 2 101014379 101014379 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:101014379C>A uc002tam.2 - 5 777 c.418G>T c.(418-420)GTT>TTT p.V140F NM_004854 NP_004845 O43529 CHSTA_HUMAN HNK-1 sulfotransferase 140 Lumenal (Potential). carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction ovary(1) 1 CCATTTAGAACAATCAGCACT 0.512 NA 14 20 0.000219431 0.000233355 0.020292 1 0 IL18RAP 8807 broad.mit.edu 37 2 103061712 103061712 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:103061712G>C uc002tbx.2 + 9 1468 c.984G>C c.(982-984)CAG>CAC p.Q328H IL18RAP_uc010fiz.2_Missense_Mutation_p.Q186H NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 328 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 AAGTCACTCAGCGTGATCTTC 0.403 NA 14 22 0 0 0.003163 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121999986 121999986 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:121999986G>T uc002tmx.2 - 7 810 c.717C>A c.(715-717)GCC>GCA p.A239A TFCP2L1_uc010flr.2_Silent_p.A239A NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 239 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) CCTTCTCTTGGGCAGTTCTTT 0.562 NA 51 110 1.83081e-24 2.76935e-24 0.01441 1 0 TTN 7273 broad.mit.edu 37 2 179403333 179403333 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:179403333C>T uc010zfg.1 - 303 91743 c.91519G>A c.(91519-91521)GCT>ACT p.A30507T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24202T|TTN_uc010zfi.1_Missense_Mutation_p.A24135T|TTN_uc010zfj.1_Missense_Mutation_p.A24010T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31434 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) TCATTCTCAGCAAAAACCCTG 0.418 NA 61 50 0 0 0.01441 0 0 TTN 7273 broad.mit.edu 37 2 179437609 179437610 + Missense_Mutation DNP GG GG TT TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:179437609_179437610GG>TT uc010zfg.1 - 275 65769_65770 c.65545_65546CC>AA c.(65545-65547)CCA>AAA p.P21849K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P15544K|TTN_uc010zfi.1_Missense_Mutation_p.P15477K|TTN_uc010zfj.1_Missense_Mutation_p.P15352K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22776 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) TTCAGCCTTTGGAGTTCCAGGA 0.475 NA 15 18 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179553413 179553413 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:179553413G>T uc010zfg.1 - 123 28680 c.28456C>A c.(28456-28458)CGG>AGG p.R9486R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.R6147R|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10413 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) CCTTCGTGCCGCGTGACTTCC 0.388 NA 16 60 1.02788e-11 1.30116e-11 0.00499 1 0 TTN 7273 broad.mit.edu 37 2 179593427 179593427 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:179593427G>T uc010zfg.1 - 63 15718 c.15494C>A c.(15493-15495)GCT>GAT p.A5165D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1826D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6092 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) TGGTGTTCCAGCCACAACACA 0.383 NA 17 20 1.99824e-07 2.2876e-07 0.00499 1 0 MSTN 2660 broad.mit.edu 37 2 190926980 190926980 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:190926980T>A uc002urp.2 - 1 476 c.343A>T c.(343-345)ACG>TCG p.T115S NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 115 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) ATTGTTTCCGTTGTAGCGTGA 0.438 NA 21 78 0 0 0.012319 0 0 ADAM23 8745 broad.mit.edu 37 2 207482345 207482345 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:207482345C>A uc002vbq.2 + 26 2716 c.2493C>A c.(2491-2493)CCC>CCA p.P831P ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 831 Cytoplasmic (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGCAAGGCCCCATCTGAATCA 0.453 Melanoma(194;1127 2130 19620 24042 27855) NA 9 16 3.86212e-05 4.1923e-05 0.008291 1 0 PIKFYVE 200576 broad.mit.edu 37 2 209182591 209182591 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:209182591A>T uc002vcz.2 + 16 2166 c.2008A>T c.(2008-2010)ATC>TTC p.I670F PIKFYVE_uc010fun.1_Missense_Mutation_p.I351F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.I614F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 670 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 GTTCCATTAGATCCCAGGTGG 0.308 NA 25 95 0 0 0.01892 0 0 TRIP12 9320 broad.mit.edu 37 2 230678748 230678748 + Splice_Site SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:230678748C>A uc002vpw.1 - 12 1790 c.1681_splice c.e12-1 p.G561_splice TRIP12_uc002vpx.1_Splice_Site_p.G609_splice|TRIP12_uc002vpy.1_Splice_Site_p.G264_splice|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Splice_Site_p.G567_splice NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CCAAACCACCCTAAAATATAG 0.348 NA 18 19 3.51602e-12 4.54695e-12 0.008871 1 0 NMUR1 10316 broad.mit.edu 37 2 232392962 232392962 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr2:232392962C>A uc002vry.3 - 2 880 c.770G>T c.(769-771)CGA>CTA p.R257L NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 257 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity lung(3)|central_nervous_system(1)|pancreas(1) 5 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CCGCCGCAGTCGCAGCCCAAT 0.642 NA 4 14 0.00116845 0.00121786 0.001168 1 0 CRNKL1 51340 broad.mit.edu 37 20 20018200 20018200 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr20:20018200C>A uc002wrs.2 - 14 2178 c.2146G>T c.(2146-2148)GCT>TCT p.A716S NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 716 HAT 14. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 TCAAACTGAGCAAAGCTGATC 0.318 NA 34 59 2.46105e-21 3.5681e-21 0.010818 1 0 PREX1 57580 broad.mit.edu 37 20 47256395 47256395 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr20:47256395C>A uc002xtw.1 - 30 3836 c.3813G>T c.(3811-3813)CGG>CGT p.R1271R PREX1_uc002xtv.1_Silent_p.R568R NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1271 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGATCAGGCTCCGGCCACGGA 0.557 NA 72 65 3.41413e-29 5.33777e-29 0.01441 1 0 KCNB1 3745 broad.mit.edu 37 20 47989929 47989929 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr20:47989929G>T uc002xur.1 - 2 2332 c.2168C>A c.(2167-2169)TCC>TAC p.S723Y KCNB1_uc002xus.1_Missense_Mutation_p.S723Y NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 723 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTAGATGGAGGACTCTGGGCT 0.572 NA 28 30 1.75199e-13 2.30843e-13 0.007291 1 0 TSHZ2 128553 broad.mit.edu 37 20 51871355 51871355 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr20:51871355G>T uc002xwo.2 + 2 2314 c.1358G>T c.(1357-1359)TGT>TTT p.C453F NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 453 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GCATCAGATTGTACAGCCTCT 0.453 NA 50 88 2.9001e-28 4.50053e-28 0.01441 1 0 COL9A3 1299 broad.mit.edu 37 20 61467557 61467557 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr20:61467557C>A uc002ydm.2 + 28 1423 c.1420C>A c.(1420-1422)CTG>ATG p.L474M COL9A3_uc002ydn.2_5'Flank NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 474 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) TCGAGGGGAGCTGGGCCCCAA 0.711 NA 16 19 2.35188e-11 2.95041e-11 0.006122 1 0 BAGE2 85319 broad.mit.edu 37 21 11049614 11049614 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr21:11049614T>A uc002yit.1 - 4 495 c.287A>T c.(286-288)AAG>ATG p.K96M NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGTTTGCATCTTCCTTCGCTA 0.373 NA 8 126 0 0 0.008291 0 0 GRIK1 2897 broad.mit.edu 37 21 31066378 31066378 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr21:31066378C>A uc002yno.1 - 2 587 c.123G>T c.(121-123)GGG>GGT p.G41G GRIK1_uc002ynn.2_Silent_p.G41G|GRIK1_uc011acs.1_Silent_p.G41G|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Silent_p.G41G NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 41 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTTCAAAAATCCCTCCTGCAG 0.323 NA 25 31 9.57634e-11 1.18713e-10 0.01892 1 0 IFNGR2 3460 broad.mit.edu 37 21 34793969 34793969 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr21:34793969C>T uc002yrp.3 + 3 1037 c.389C>T c.(388-390)CCT>CTT p.P130L IFNGR2_uc002yrq.3_Missense_Mutation_p.P149L|IFNGR2_uc010gma.2_Missense_Mutation_p.P51L|IFNGR2_uc002yrr.3_Missense_Mutation_p.P51L NM_005534 NP_005525 P38484 INGR2_HUMAN interferon gamma receptor 2 precursor 130 Extracellular (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity 0 Interferon gamma-1b(DB00033) GTGACAATGCCTTGGTTTCAA 0.493 NA 38 73 0 0 0.00874 0 0 PCBP3 54039 broad.mit.edu 37 21 47333886 47333886 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr21:47333886A>G uc002zhq.1 + 8 747 c.622A>G c.(622-624)ATT>GTT p.I208V PCBP3_uc010gqb.2_Missense_Mutation_p.I208V|PCBP3_uc002zhp.1_Missense_Mutation_p.I208V|PCBP3_uc010gqc.1_Intron|PCBP3_uc002zhs.1_Intron|PCBP3_uc002zhr.1_Missense_Mutation_p.I208V|PCBP3_uc002zht.1_Missense_Mutation_p.I176V NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 208 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) AGGTGCCACCATTCCCTACCG 0.627 NA 22 36 0 0 0.021523 0 0 DIP2A 23181 broad.mit.edu 37 21 47970495 47970495 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr21:47970495G>T uc002zjo.2 + 23 2860 c.2677G>T c.(2677-2679)GCC>TCC p.A893S DIP2A_uc011afy.1_Missense_Mutation_p.A829S|DIP2A_uc011afz.1_Missense_Mutation_p.A889S NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 893 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GTACTGTCTGGCCCTGGTTCC 0.577 NA 13 22 1.5842e-08 1.8804e-08 0.016723 1 0 GAB4 128954 broad.mit.edu 37 22 17488963 17488963 + Silent SNP T T G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr22:17488963T>G uc002zlw.2 - 1 150 c.42A>C c.(40-42)CCA>CCC p.P14P GAB4_uc010gqs.1_Silent_p.P14P NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 14 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) CCGGGTCAGGTGGGCACAGCT 0.682 NA 8 4 0 0 0.006214 0 0 NAGA 4668 broad.mit.edu 37 22 42456311 42456311 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr22:42456311A>G uc003bbx.2 - 10 1345 c.1208T>C c.(1207-1209)ATC>ACC p.I403T NAGA_uc003bby.2_Missense_Mutation_p.I403T|NAGA_uc003bbw.3_Missense_Mutation_p.I403T NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 403 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 CAGGTTCTTGATGGGATACAG 0.552 NA 43 88 0 0 0.009718 0 0 PTH1R 5745 broad.mit.edu 37 3 46944143 46944143 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:46944143T>C uc003cqm.2 + 14 1542 c.1339T>C c.(1339-1341)TTC>CTC p.F447L PTH1R_uc003cqn.2_Missense_Mutation_p.F447L NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 447 Helical; Name=7; (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 TGAGATGCTCTTCAACTCCTT 0.602 NA Ollier_disease_/_Maffucsyndrome 20 3 0 0 0.007413 0 0 GNAT1 2779 broad.mit.edu 37 3 50230772 50230772 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:50230772A>G uc003cym.2 + 3 340 c.224A>G c.(223-225)CAG>CGG p.Q75R GNAT1_uc003cyl.2_Missense_Mutation_p.Q75R NM_144499 NP_653082 P11488 GNAT1_HUMAN rod-type transducin alpha subunit 75 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AACACGTTGCAGTCCATCCTG 0.602 NA 20 6 0 0 0.008871 0 0 FLNB 2317 broad.mit.edu 37 3 58111327 58111327 + Silent SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:58111327G>C uc003djj.2 + 23 4083 c.3918G>C c.(3916-3918)GTG>GTC p.V1306V FLNB_uc010hne.2_Silent_p.V1306V|FLNB_uc003djk.2_Silent_p.V1306V|FLNB_uc010hnf.2_Silent_p.V1306V|FLNB_uc003djl.2_Silent_p.V1137V|FLNB_uc003djm.2_Silent_p.V1137V NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1306 Filamin 11.|Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TAGTGGAGGTGACATATGATG 0.458 NA 3 47 0 0 0.004672 0 0 CRYBG3 131544 broad.mit.edu 37 3 97605504 97605504 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:97605504C>A uc003drx.2 + 5 1402 c.1338C>A c.(1336-1338)TTC>TTA p.F446L NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 TAGAGCTTTTCCCACAATCTG 0.418 NA 33 231 1.36615e-20 1.96706e-20 0.013726 1 0 GAP43 2596 broad.mit.edu 37 3 115395236 115395236 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:115395236G>C uc003ebq.2 + 2 793 c.407G>C c.(406-408)GGC>GCC p.G136A GAP43_uc003ebr.2_Missense_Mutation_p.G172A NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 136 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) GAGAAGGCCGGCTCAGCTGAG 0.582 NA 12 28 0 0 0.016723 0 0 POLQ 10721 broad.mit.edu 37 3 121208549 121208549 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:121208549G>C uc003eee.3 - 16 3358 c.3229C>G c.(3229-3231)CTT>GTT p.L1077V POLQ_uc003eed.2_Missense_Mutation_p.L249V NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1077 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TCTTCACAAAGACTAGGATTA 0.408 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 126 63 0 0 0.01441 0 0 CCDC14 64770 broad.mit.edu 37 3 123663717 123663717 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:123663717C>G uc011bjx.1 - 9 1557 c.1466G>C c.(1465-1467)AGT>ACT p.S489T CCDC14_uc003egv.3_Missense_Mutation_p.S130T|CCDC14_uc003egx.3_Missense_Mutation_p.S289T|CCDC14_uc010hrt.2_Missense_Mutation_p.S448T|CCDC14_uc003egy.3_Missense_Mutation_p.S289T|CCDC14_uc003egz.2_Missense_Mutation_p.S289T NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 489 Potential. centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) AGCATTCTCACTTCTTAATGG 0.388 NA 9 48 0 0 0.006214 0 0 HEG1 57493 broad.mit.edu 37 3 124746194 124746194 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:124746194C>A uc003ehs.3 - 3 836 c.768G>T c.(766-768)TCG>TCT p.S256S HEG1_uc011bke.1_Silent_p.S256S NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 256 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 GGCTCCAAGCCGAAGTGGTGG 0.542 NA 12 40 0.00010058 0.000108059 0.013537 1 0 PIK3R4 30849 broad.mit.edu 37 3 130452634 130452634 + Missense_Mutation SNP A A C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:130452634A>C uc003enj.2 - 4 1789 c.1208T>G c.(1207-1209)CTT>CGT p.L403R NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 403 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 AGCCAAATGAAGAATCAGTTC 0.403 NA 5 260 0 0 0.014758 0 0 ATP2C1 27032 broad.mit.edu 37 3 130735084 130735084 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:130735084G>T uc011bli.1 + 28 3135 c.2915G>T c.(2914-2916)TGT>TTT p.C972F ATP2C1_uc011blh.1_Missense_Mutation_p.C943F|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_Missense_Mutation_p.C922F|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_Missense_Mutation_p.C948F|ATP2C1_uc003ent.2_Missense_Mutation_p.C938F|ASTE1_uc010htm.1_Missense_Mutation_p.T538K|ASTE1_uc003env.1_Missense_Mutation_p.T538K|ASTE1_uc011blj.1_RNA NM_001001487 NP_001001487 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1b Error:Variant_position_missing_in_P98194_after_alignment actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) GATGTGAGCTGTGTCTAAGTC 0.527 Esophageal Squamous(99;456 1443 27647 34099 42636) NA Hailey-Hailey_disease 34 99 9.17885e-22 1.34005e-21 0.015359 1 0 PRR23A 729627 broad.mit.edu 37 3 138724422 138724423 + Missense_Mutation DNP GG GG TT TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:138724422_138724423GG>TT uc011bms.1 - 1 688_689 c.688_689CC>AA c.(688-690)CCT>AAT p.P230N NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN proline rich 23A 230 Pro-rich. 0 AGGTTGGAGAGGTGAGCTGGGG 0.673 NA 4 10 0 0 0.004672 0 0 SLC9A9 285195 broad.mit.edu 37 3 143214238 143214238 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:143214238C>A uc003evn.2 - 10 1324 c.1142G>T c.(1141-1143)GGC>GTC p.G381V NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 381 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CAGTGCCAGGCCCATGTAACA 0.353 NA 38 108 2.47872e-24 3.73592e-24 0.010771 1 0 ZIC4 84107 broad.mit.edu 37 3 147108869 147108869 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:147108869T>C uc003ewd.1 - 4 1126 c.853A>G c.(853-855)ATG>GTG p.M285V ZIC4_uc003ewc.1_Missense_Mutation_p.M215V|ZIC4_uc011bno.1_Missense_Mutation_p.M335V NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 285 C2H2-type 5. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TGCACCTTCATGTGCTTACGC 0.637 NA 14 55 0 0 0.004007 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183295 167183295 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:167183295C>T uc003fer.1 - 3 703 c.645G>A c.(643-645)ATG>ATA p.M215I SERPINI2_uc003fes.1_Missense_Mutation_p.M225I|SERPINI2_uc003fet.1_Missense_Mutation_p.M215I NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 215 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 GAGCCTTCATCATTGGAATTT 0.318 NA 80 51 0 0 0.01441 0 0 SEC62 7095 broad.mit.edu 37 3 169710594 169710594 + Missense_Mutation SNP A A C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:169710594A>C uc003fgg.2 + 8 974 c.943A>C c.(943-945)AGT>CGT p.S315R SEC62_uc003fgh.2_Missense_Mutation_p.S315R NM_003262 NP_003253 Q99442 SEC62_HUMAN translocation protein 1 315 Cytoplasmic (Potential). cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity ovary(1) 1 AAAGTCAGACAGTGAGAAAAA 0.463 NA 20 47 0 0 0.008871 0 0 NLGN1 22871 broad.mit.edu 37 3 173993224 173993224 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:173993224A>T uc003fio.1 + 5 1189 c.766A>T c.(766-768)ACT>TCT p.T256S NLGN1_uc010hww.1_Missense_Mutation_p.T296S|NLGN1_uc003fip.1_Missense_Mutation_p.T256S NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 273 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CTTAAGAATCACTGTTTTTGG 0.428 NA 43 111 0 0 0.013114 0 0 DGKG 1608 broad.mit.edu 37 3 186015996 186015996 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:186015996T>A uc003fqa.2 - 4 704 c.167A>T c.(166-168)AAG>ATG p.K56M DGKG_uc003fqb.2_Missense_Mutation_p.K56M|DGKG_uc003fqc.2_Missense_Mutation_p.K56M|DGKG_uc011brx.1_Missense_Mutation_p.K56M NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 56 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CATGAACAGCTTGAAGACATC 0.353 NA 11 66 0 0 0.008291 0 0 AHSG 197 broad.mit.edu 37 3 186338396 186338396 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:186338396C>G uc003fqk.3 + 7 862 c.781C>G c.(781-783)CCA>GCA p.P261A AHSG_uc003fql.3_Missense_Mutation_p.P262A|AHSG_uc003fqm.3_Missense_Mutation_p.P260A|AHSG_uc010hyp.2_Missense_Mutation_p.P224A NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 261 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) ACAGCCCCAACCAGAAGGTGC 0.612 NA 14 87 0 0 0.007291 0 0 PYDC2 152138 broad.mit.edu 37 3 191179085 191179085 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:191179085C>G uc011bso.1 + 1 134 c.134C>G c.(133-135)ACA>AGA p.T45R NM_001083308 NP_001076777 Q56P42 PYDC2_HUMAN pyrin domain containing 2 45 DAPIN. cytoplasm|nucleus 0 GTCCCCCAGACAGAGGTAGAC 0.532 NA 69 42 0 0 0.01441 0 0 SDHAP2 727956 broad.mit.edu 37 3 195400728 195400728 + Silent SNP A A G rs12107841 by1000genomes TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:195400728A>G uc003fuw.2 + 9 1218 c.24A>G c.(22-24)CCA>CCG p.P8P SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GATTGTGCCCAGCCTGTACGC 0.587 NA 3 28 0 0 0.009096 0 0 FAM193A 8603 broad.mit.edu 37 4 2674026 2674026 + Missense_Mutation SNP A A C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:2674026A>C uc010icl.2 + 11 1736 c.1385A>C c.(1384-1386)CAC>CCC p.H462P FAM193A_uc010ick.2_Missense_Mutation_p.H662P|FAM193A_uc003gfd.2_Missense_Mutation_p.H462P|FAM193A_uc011bvm.1_Missense_Mutation_p.H484P|FAM193A_uc011bvn.1_Missense_Mutation_p.H462P|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.H316P NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 462 ovary(3) 3 GTGCCTTTGCACACTGTTCCA 0.567 NA 21 25 0 0 0.012319 0 0 EVC 2121 broad.mit.edu 37 4 5754652 5754652 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:5754652G>T uc003gil.1 + 9 1372 c.1188G>T c.(1186-1188)CGG>CGT p.R396R EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 396 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CCAGGTGCCGGCTGGCTGCCA 0.627 NA 20 19 2.94398e-08 3.45526e-08 0.007413 1 0 CRMP1 1400 broad.mit.edu 37 4 5837732 5837732 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:5837732C>T uc003gip.2 - 12 1292 c.1191G>A c.(1189-1191)AGG>AGA p.R397R CRMP1_uc003gin.1_Silent_p.R309R|CRMP1_uc003giq.2_Silent_p.R397R|CRMP1_uc003gir.2_Silent_p.R392R|CRMP1_uc003gis.2_Silent_p.R511R NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 397 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) TCCGCCCTTTCCTTGGGTACA 0.532 NA 44 77 0 0 0.011902 0 0 TBC1D19 55296 broad.mit.edu 37 4 26744202 26744202 + Nonsense_Mutation SNP C C T rs141345574 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:26744202C>T uc003gsf.3 + 18 1570 c.1300C>T c.(1300-1302)CGA>TGA p.R434* TBC1D19_uc010iew.2_Nonsense_Mutation_p.R434*|TBC1D19_uc011bxu.1_Nonsense_Mutation_p.R369* NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 434 Rab-GAP TBC. intracellular Rab GTPase activator activity p.R434*(1) breast(1) 1 Breast(46;0.0503) TTATCATCTACGAGAAATTGG 0.373 NA 41 45 0 0 0.01441 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181643 57181643 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:57181643C>A uc003hbk.2 + 8 2366 c.1975C>A c.(1975-1977)CCC>ACC p.P659T KIAA1211_uc010iha.2_Missense_Mutation_p.P652T|KIAA1211_uc011bzz.1_Missense_Mutation_p.P569T|KIAA1211_uc003hbm.1_Missense_Mutation_p.P545T NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 659 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CCAGGAGTCTCCCAGCAGCGC 0.677 NA 16 21 2.31682e-05 2.53459e-05 0.003163 1 0 CXCL6 6372 broad.mit.edu 37 4 74702948 74702948 + Missense_Mutation SNP T T G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:74702948T>G uc003hhf.2 + 3 466 c.271T>G c.(271-273)TGT>GGT p.C91G IL8_uc011cbh.1_Intron NM_002993 NP_002984 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 (granulocyte 91 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GAAGCAAGTTTGTCTGGACCC 0.453 NA 37 30 0 0 0.00623 0 0 HSD17B13 345275 broad.mit.edu 37 4 88239557 88239557 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:88239557C>T uc003hqo.2 - 2 305 c.242G>A c.(241-243)CGA>CAA p.R81Q HSD17B13_uc010ikk.2_Intron NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 81 extracellular region binding|oxidoreductase activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) GCCTAGTTTTCGGCACTCAGC 0.443 NA 3 55 0 0 0.004672 0 0 PDHA2 5161 broad.mit.edu 37 4 96761509 96761509 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:96761509C>A uc003htr.3 + 1 271 c.208C>A c.(208-210)CGC>AGC p.R70S NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 70 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCTGACTGTTCGCCGCATGGA 0.493 NA 21 19 8.34094e-07 9.39476e-07 0.008871 1 0 ANK2 287 broad.mit.edu 37 4 114280096 114280096 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:114280096G>A uc003ibe.3 + 38 10422 c.10322G>A c.(10321-10323)CGA>CAA p.R3441Q ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.R743Q|ANK2_uc011cgb.1_Missense_Mutation_p.R3456Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3408 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTTACATCCCGATTGCCAGTT 0.478 NA 6 32 0 0 0.001168 0 0 EXOSC9 5393 broad.mit.edu 37 4 122734443 122734443 + Silent SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:122734443A>T uc003iea.2 + 9 990 c.882A>T c.(880-882)ACA>ACT p.T294T EXOSC9_uc003idz.2_Silent_p.T294T|EXOSC9_uc003ieb.2_Silent_p.T278T|EXOSC9_uc010inp.1_Intron NM_005033 NP_005024 Q06265 EXOS9_HUMAN exosome component 9 isoform 2 294 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 AAAGGATCACAGCATTTAAAA 0.418 NA 43 37 0 0 0.006999 0 0 KIAA1109 84162 broad.mit.edu 37 4 123271219 123271219 + Silent SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:123271219A>T uc003ieh.2 + 78 13884 c.13839A>T c.(13837-13839)TCA>TCT p.S4613S KIAA1109_uc003iem.2_Silent_p.S969S NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4613 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AAAAAAGTTCACAAGAACAAT 0.333 NA 36 27 0 0 0.015359 0 0 TDO2 6999 broad.mit.edu 37 4 156831336 156831336 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:156831336G>C uc003ipf.1 + 6 655 c.591G>C c.(589-591)CAG>CAC p.Q197H NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 197 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) AATCTGAGCAGGAAAAGACAC 0.323 Colon(57;928 1036 2595 6946 26094) NA 10 76 0 0 0.006214 0 0 PALLD 23022 broad.mit.edu 37 4 169842780 169842780 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:169842780G>T uc011cjx.1 + 18 3157 c.2946G>T c.(2944-2946)GGG>GGT p.G982G CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Silent_p.G965G|PALLD_uc003irv.2_Silent_p.G583G|PALLD_uc003irw.2_Silent_p.G467G|PALLD_uc003irx.2_Silent_p.G191G NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 1189 Ig-like C2-type 4.|Interaction with EZR. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GTGAGAACGGGGTGCACTCTC 0.537 Esophageal Squamous(109;1482 1532 18347 40239 51172) NA Pancreatic_Cancer_Familial_Clustering_of 13 14 2.27111e-07 2.58586e-07 0.013537 1 0 IRX2 153572 broad.mit.edu 37 5 2749032 2749032 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:2749032C>G uc003jda.2 - 3 1032 c.790G>C c.(790-792)GAG>CAG p.E264Q IRX2_uc003jdb.2_Missense_Mutation_p.E264Q NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 264 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) TCGTCGTCCTCCAGGTCGTCA 0.706 NA 19 9 0 0 0.008871 0 0 CDH18 1016 broad.mit.edu 37 5 19747077 19747077 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:19747077A>G uc003jgc.2 - 3 874 c.497T>C c.(496-498)GTT>GCT p.V166A CDH18_uc003jgd.2_Missense_Mutation_p.V166A|CDH18_uc011cnm.1_Missense_Mutation_p.V166A NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 166 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGGCACAGTAACAATGTATGG 0.343 NA 119 57 0 0 0.01441 0 0 CDH9 1007 broad.mit.edu 37 5 26916033 26916033 + Splice_Site SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:26916033C>A uc003jgs.1 - 3 398 c.229_splice c.e3-1 p.L77_splice CDH9_uc010iug.2_Splice_Site_p.L77_splice NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CAGTGTGAAGCTTTAGAGAGG 0.343 Melanoma(8;187 585 15745 40864 52829) NA 35 113 2.42023e-17 3.36903e-17 0.015359 1 0 RICTOR 253260 broad.mit.edu 37 5 39021212 39021212 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:39021212G>A uc003jlp.2 - 3 148 c.124C>T c.(124-126)CTC>TTC p.L42F RICTOR_uc003jlo.2_Missense_Mutation_p.L42F|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.L26F|RICTOR_uc011cpk.1_Missense_Mutation_p.L42F NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 42 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) ACATTTTGGAGAATCTCTCTT 0.323 NA 46 186 0 0 0.01441 0 0 C6 729 broad.mit.edu 37 5 41142976 41142976 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:41142976C>A uc003jmk.2 - 18 2966 c.2756G>T c.(2755-2757)TGT>TTT p.C919F C6_uc003jml.1_Missense_Mutation_p.C919F NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 919 Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCTGTTTGCACATCTTATAGT 0.433 NA 117 68 5.16181e-52 8.48156e-52 0.01441 1 0 PARP8 79668 broad.mit.edu 37 5 50056133 50056133 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:50056133A>T uc003jon.3 + 6 464 c.282A>T c.(280-282)AGA>AGT p.R94S PARP8_uc011cpz.1_Intron|PARP8_uc003joo.2_Missense_Mutation_p.R94S|PARP8_uc003jop.2_Missense_Mutation_p.R94S NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 94 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) CAGAATTAAGAAAAACAAATG 0.249 NA 7 5 0 0 0.001984 0 0 FOXD1 2297 broad.mit.edu 37 5 72743820 72743820 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:72743820A>T uc003kcp.2 - 1 533 c.368T>A c.(367-369)CTG>CAG p.L123Q NM_004472 NP_004463 Q16676 FOXD1_HUMAN forkhead box D1 123 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151) OV - Ovarian serous cystadenocarcinoma(47;1.07e-54) CGGCTTCACCAGCGGGTTCTT 0.398 NA 5 10 0 0 0.014758 0 0 RASGRF2 5924 broad.mit.edu 37 5 80388641 80388641 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:80388641C>T uc003kha.1 + 10 1412 c.1412C>T c.(1411-1413)TCC>TTC p.S471F RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 471 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CAAGTACCTTCCGTTGAGAGG 0.373 NA 41 69 0 0 0.007835 0 0 XRCC4 7518 broad.mit.edu 37 5 82491599 82491599 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:82491599G>T uc003kib.2 + 4 454 c.326G>T c.(325-327)GGT>GTT p.G109V XRCC4_uc003kia.1_Missense_Mutation_p.G109V|XRCC4_uc003kid.2_Missense_Mutation_p.G109V|XRCC4_uc003kic.2_Missense_Mutation_p.G109V|XRCC4_uc003kie.2_Missense_Mutation_p.G109V|XRCC4_uc003kif.1_Missense_Mutation_p.G109V NM_022406 NP_071801 Q13426 XRCC4_HUMAN X-ray repair cross complementing protein 4 109 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding skin(3) 3 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) TTCAGACTTGGTTCCTTCAAC 0.343 NA NHEJ 21 28 1.55795e-14 2.09897e-14 0.012319 1 0 HAPLN1 1404 broad.mit.edu 37 5 82937473 82937474 + Missense_Mutation DNP GG GG TT TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:82937473_82937474GG>TT uc003kim.2 - 4 977_978 c.906_907CC>AA c.(904-909)GACCGC>GAAAGC p.302_303DR>ES HAPLN1_uc003kin.2_Missense_Mutation_p.302_303DR>ES NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 302_303 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GCATCACAGCGGTCATATCCGA 0.554 NA 53 80 0 0 0.004672 0 0 CATSPER3 347732 broad.mit.edu 37 5 134346177 134346177 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:134346177A>T uc003lag.2 + 7 1119 c.1051A>T c.(1051-1053)ATC>TTC p.I351F NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 351 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTCATCGATATCTACTTTTC 0.512 NA 14 37 0 0 0.003163 0 0 KIF20A 10112 broad.mit.edu 37 5 137515415 137515415 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:137515415G>T uc003lcj.2 + 2 542 c.46G>T c.(46-48)GAC>TAC p.D16Y BRD8_uc003lcc.1_5'Flank|BRD8_uc003lcf.1_5'Flank|BRD8_uc003lcg.2_5'Flank|BRD8_uc003lci.2_5'Flank|BRD8_uc003lch.2_5'Flank|BRD8_uc011cym.1_5'Flank|BRD8_uc010jer.1_5'Flank|BRD8_uc011cyn.1_5'Flank|BRD8_uc010jes.1_5'Flank|KIF20A_uc011cyo.1_Missense_Mutation_p.D16Y NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 16 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCTGTCCGATGACGATGTCGT 0.542 NA 5 58 1.024e-07 1.18852e-07 0.014758 1 0 CXXC5 51523 broad.mit.edu 37 5 139060145 139060146 + Missense_Mutation DNP GG GG TT TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:139060145_139060146GG>TT uc010jfg.1 + 2 327_328 c.37_38GG>TT c.(37-39)GGC>TTC p.G13F CXXC5_uc003let.2_Missense_Mutation_p.G13F NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN CXXC finger 5 13 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGCCGgcggcagtagcagc 0.525 NA 4 3 0 0 0.004672 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256399 140256399 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:140256399G>A uc003lic.2 + 1 1469 c.1342G>A c.(1342-1344)GTG>ATG p.V448M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V448M NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 448 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCCGACGTGAACGACAA 0.657 Pancreas(113;759 1672 13322 24104 50104) NA 19 78 0 0 0.008871 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475631 140475631 + Nonsense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:140475631C>A uc003lil.2 + 1 1395 c.1257C>A c.(1255-1257)TAC>TAA p.Y419* PCDHB2_uc003lim.1_Nonsense_Mutation_p.Y80* NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 419 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATCCGAATACAACATCACCA 0.522 NA 25 38 4.26978e-12 5.47106e-12 0.01892 1 0 PCDHB3 56132 broad.mit.edu 37 5 140480379 140480379 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:140480379C>T uc003lio.2 + 1 146 c.146C>T c.(145-147)GCA>GTA p.A49V uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 49 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCAACCTAGCAAAGGATCTG 0.507 NA 25 23 0 0 0.01892 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559000 140559000 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:140559000G>C uc011dai.1 + 1 1571 c.1385G>C c.(1384-1386)CGC>CCC p.R462P PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 462 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTTCGTCCGCGAGAACAAC 0.627 NA 41 204 0 0 0.01441 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744879 140744879 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:140744879G>T uc003lju.1 + 1 982 c.982G>T c.(982-984)GTT>TTT p.V328F 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_uc011das.1_Missense_Mutation_p.V328F NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 328 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCGCTCTTGTTGCCAGCGC 0.502 NA 18 30 2.94398e-08 3.45526e-08 0.007413 1 0 LARS 51520 broad.mit.edu 37 5 145523006 145523006 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:145523006G>A uc003lnx.1 - 19 2084 c.1846C>T c.(1846-1848)CAT>TAT p.H616Y LARS_uc011dbq.1_Missense_Mutation_p.H570Y|LARS_uc011dbr.1_Missense_Mutation_p.H562Y|LARS_uc011dbs.1_Missense_Mutation_p.H589Y NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 616 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) GCCTGTCCATGCAAGTTACCC 0.433 NA 72 123 0 0 0.01441 0 0 GEMIN5 25929 broad.mit.edu 37 5 154270801 154270801 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:154270801C>A uc003lvx.3 - 26 4345 c.4262G>T c.(4261-4263)TGT>TTT p.C1421F GEMIN5_uc011ddk.1_Missense_Mutation_p.C1420F NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 1421 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGTACTTACCACTGGCTCTG 0.343 NA 44 60 6.07928e-31 9.61214e-31 0.009718 1 0 HK3 3101 broad.mit.edu 37 5 176314548 176314549 + Missense_Mutation DNP CC CC AA TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:176314548_176314549CC>AA uc003mfa.2 - 11 1595_1596 c.1503_1504GG>TT c.(1501-1506)CAGGCA>CATTCA p.501_502QA>HS HK3_uc003mez.2_Missense_Mutation_p.57_58QA>HS NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 501_502 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGCATCTGTGCCTGAACCGCAG 0.673 NA 20 28 0 0 0.004672 0 0 FLT4 2324 broad.mit.edu 37 5 180047710 180047710 + Nonsense_Mutation SNP C C A rs144822344 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:180047710C>A uc003mma.3 - 16 2384 c.2305G>T c.(2305-2307)GAG>TAG p.E769* FLT4_uc003mlz.3_Nonsense_Mutation_p.E769*|FLT4_uc003mmb.1_Nonsense_Mutation_p.E302* NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 769 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCCTTATCCTCGGAGCCTGCG 0.597 Colon(97;1075 1466 27033 27547 35871) NA Congenital_Hereditary_Lymphedema 18 10 3.32936e-07 3.77027e-07 0.006122 1 0 OR2V2 285659 broad.mit.edu 37 5 180581967 180581967 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr5:180581967T>A uc011dhj.1 + 1 25 c.25T>A c.(25-27)TAC>AAC p.Y9N NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAACCAGTCCTACACAGATGG 0.507 NA 46 58 0 0 0.01441 0 0 GPLD1 2822 broad.mit.edu 37 6 24447133 24447133 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:24447133G>A uc003ned.1 - 18 1864 c.1753C>T c.(1753-1755)CAC>TAC p.H585Y NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 585 FG-GAP 4. extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 GTGACACCGTGAAGGGAATAT 0.522 NA 31 32 0 0 0.010818 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24533937 24533937 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:24533937G>T uc003neg.2 + 10 1633 c.1605G>T c.(1603-1605)TTG>TTT p.L535F ALDH5A1_uc003nef.2_Missense_Mutation_p.L548F NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 535 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) ACGGGGGCTTGTAGGATTCTT 0.398 NA 22 45 6.44725e-10 7.92199e-10 0.014323 1 0 BTN1A1 696 broad.mit.edu 37 6 26509112 26509112 + Nonsense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:26509112G>T uc003nif.3 + 7 1311 c.1291G>T c.(1291-1293)GGA>TGA p.G431* NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 431 B30.2/SPRY.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 CTATGAATCAGGAGACATCTC 0.522 NA 18 25 9.16793e-09 1.09753e-08 0.00499 1 0 GPX5 2880 broad.mit.edu 37 6 28501899 28501899 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:28501899C>T uc003nll.2 + 5 623 c.621C>T c.(619-621)GTC>GTT p.V207V GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_RNA NM_001509 NP_001500 O75715 GPX5_HUMAN glutathione peroxidase 5 isoform 1 precursor 207 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity skin(1) 1 Glutathione(DB00143) TCAGCTCAGTCAAGACAGACA 0.507 NA 25 16 0 0 0.021523 0 0 OR12D2 26529 broad.mit.edu 37 6 29364862 29364862 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:29364862G>T uc003nmf.3 + 1 447 c.386G>T c.(385-387)CGC>CTC p.R129L NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AAGCCACTTCGCTACACTGTC 0.512 NA 15 35 4.3181e-19 6.09186e-19 0.013726 1 0 GABBR1 2550 broad.mit.edu 37 6 29595311 29595311 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:29595311C>A uc003nmt.3 - 6 945 c.609G>T c.(607-609)AGG>AGT p.R203S GABBR1_uc003nmp.3_Missense_Mutation_p.R86S|GABBR1_uc003nms.3_Missense_Mutation_p.R86S|GABBR1_uc003nmu.3_Missense_Mutation_p.R141S|GABBR1_uc011dlr.1_Missense_Mutation_p.R26S|GABBR1_uc011dls.1_Missense_Mutation_p.R203S NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 203 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) GCAGGATGTCCCTGCGGCTAT 0.677 NA 3 7 0.00909568 0.00934091 0.009096 1 0 GRM4 2914 broad.mit.edu 37 6 34003675 34003675 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:34003675G>A uc003oir.3 - 8 2382 c.2212C>T c.(2212-2214)CGC>TGC p.R738C GRM4_uc011dsn.1_Missense_Mutation_p.R691C|GRM4_uc010jvh.2_Missense_Mutation_p.R738C|GRM4_uc010jvi.2_Missense_Mutation_p.R430C|GRM4_uc003oio.2_Missense_Mutation_p.R430C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R598C|GRM4_uc003oiq.2_Missense_Mutation_p.R605C|GRM4_uc011dsm.1_Missense_Mutation_p.R569C NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 738 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CTGGCGAAGCGGGGGTCGAGT 0.622 NA 18 29 0 0 0.007413 0 0 C6orf81 221481 broad.mit.edu 37 6 35715159 35715160 + Missense_Mutation DNP GG GG TT TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:35715159_35715160GG>TT uc003ola.2 + 4 674_675 c.647_648GG>TT c.(646-648)CGG>CTT p.R216L C6orf81_uc003olb.1_Missense_Mutation_p.R189L NM_145028 NP_659465 Q5T9G4 CF081_HUMAN hypothetical protein LOC221481 189 ARM 2. binding ovary(1) 1 CAGCTGCGACGGGTGATGCCTG 0.589 NA 12 31 0 0 0.004672 0 0 GUCA1B 2979 broad.mit.edu 37 6 42162358 42162358 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:42162358C>A uc003orz.2 - 1 337 c.201G>T c.(199-201)AAG>AAT p.K67N NM_002098 NP_002089 Q9UMX6 GUC1B_HUMAN guanylate cyclase activator 1B (retina) 67 1 (Potential).|EF-hand 2. body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity skin(2) 2 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) TTACCCCATTCTTGTCGAAGG 0.537 NA 25 22 1.75199e-13 2.30843e-13 0.007291 1 0 GFRAL 389400 broad.mit.edu 37 6 55216094 55216094 + Silent SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:55216094T>C uc003pcm.1 + 5 500 c.414T>C c.(412-414)TGT>TGC p.C138C NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 138 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CAGAGGCATGTGTAGGGGATG 0.468 NA 75 108 0 0 0.01441 0 0 COL21A1 81578 broad.mit.edu 37 6 55924964 55924964 + Nonsense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:55924964G>T uc003pcs.2 - 28 2692 c.2460C>A c.(2458-2460)TGC>TGA p.C820* COL21A1_uc010jzz.2_Nonsense_Mutation_p.C205*|COL21A1_uc011dxg.1_Nonsense_Mutation_p.C193*|COL21A1_uc011dxh.1_Intron|COL21A1_uc003pcr.2_Nonsense_Mutation_p.C177* NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 820 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GTTGGGACAGGCAATGATCAC 0.493 NA 13 18 1.5842e-08 1.8804e-08 0.016723 1 0 BAI3 577 broad.mit.edu 37 6 70092758 70092758 + Silent SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:70092758A>G uc003pev.3 + 31 4759 c.4311A>G c.(4309-4311)CTA>CTG p.L1437L BAI3_uc010kak.2_Silent_p.L1437L|BAI3_uc011dxx.1_Silent_p.L643L NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1437 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATATGGAACTATTTCAAGAAC 0.363 NA 16 21 0 0 0.006122 0 0 COL19A1 1310 broad.mit.edu 37 6 70916968 70916968 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:70916968G>A uc003pfc.1 + 51 3536 c.3419G>A c.(3418-3420)GGT>GAT p.G1140D NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1140 G -> C (in Ref. 2; BAA23309). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CAGCGCACAGGTGGGAATTGA 0.542 NA 84 101 0 0 0.01441 0 0 COL9A1 1297 broad.mit.edu 37 6 71004158 71004158 + Silent SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:71004158G>C uc003pfg.3 - 5 567 c.408C>G c.(406-408)TCC>TCG p.S136S NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 136 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CCTTCCCAGAGGAATCCTGAA 0.438 NA 108 126 0 0 0.01441 0 0 RIMS1 22999 broad.mit.edu 37 6 73102459 73102459 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:73102459G>T uc003pga.2 + 31 4642 c.4565G>T c.(4564-4566)GGA>GTA p.G1522V RIMS1_uc011dyb.1_Missense_Mutation_p.G919V|RIMS1_uc003pgc.2_Missense_Mutation_p.G971V|RIMS1_uc010kaq.2_Missense_Mutation_p.G842V|RIMS1_uc011dyc.1_Missense_Mutation_p.G647V|RIMS1_uc010kar.2_Missense_Mutation_p.G590V|RIMS1_uc011dyd.1_Missense_Mutation_p.G656V|RIMS1_uc003pgf.2_Missense_Mutation_p.G522V|RIMS1_uc003pgg.2_Missense_Mutation_p.G418V|RIMS1_uc003pgi.2_Missense_Mutation_p.G338V|RIMS1_uc003pgh.2_Missense_Mutation_p.G389V|RIMS1_uc003pgd.2_Missense_Mutation_p.G588V|RIMS1_uc003pge.2_Missense_Mutation_p.G562V|RIMS1_uc011dye.1_Missense_Mutation_p.G328V|RIMS1_uc011dyf.1_Missense_Mutation_p.G146V|RIMS1_uc011dyg.1_Missense_Mutation_p.G49V NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1522 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) TTTCTTGATGGATTGGGACCA 0.408 NA 30 52 4.65686e-17 6.46101e-17 0.017118 1 0 CD109 135228 broad.mit.edu 37 6 74528210 74528210 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:74528210G>T uc003php.2 + 31 4436 c.4011G>T c.(4009-4011)GTG>GTT p.V1337V CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Silent_p.V1320V|CD109_uc010kba.2_Silent_p.V1260V NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1337 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 GCGAGACAGTGAAGAAAGTGG 0.403 NA 17 23 1.02788e-11 1.30116e-11 0.00499 1 0 SIM1 6492 broad.mit.edu 37 6 100838768 100838768 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:100838768G>C uc003pqj.3 - 11 1977 c.1770C>G c.(1768-1770)GAC>GAG p.D590E SIM1_uc010kcu.2_Missense_Mutation_p.D590E NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 590 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AAGCCAGTTGGTCTGAGGGGG 0.473 NA 39 25 0 0 0.021022 0 0 BVES 11149 broad.mit.edu 37 6 105549026 105549026 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:105549026C>G uc003pqw.2 - 8 1178 c.1021G>C c.(1021-1023)GAT>CAT p.D341H BVES_uc003pqx.2_Missense_Mutation_p.D341H|BVES_uc003pqy.2_Missense_Mutation_p.D341H NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 341 Cytoplasmic (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TCATCATCATCTTCTGCTCCT 0.473 NA 31 38 0 0 0.008361 0 0 FIG4 9896 broad.mit.edu 37 6 110086283 110086283 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:110086283G>A uc003ptt.2 + 14 1717 c.1502G>A c.(1501-1503)GGA>GAA p.G501E FIG4_uc011eau.1_Missense_Mutation_p.G224E NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 501 SAC. cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TTTATGGTGGGAAAATGTGCT 0.398 NA 42 81 0 0 0.007835 0 0 LAMA4 3910 broad.mit.edu 37 6 112513053 112513053 + Splice_Site SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:112513053C>A uc003pvu.2 - 6 813 c.504_splice c.e6-1 p.R168_splice LAMA4_uc003pvv.2_Splice_Site_p.R168_splice|LAMA4_uc003pvt.2_Splice_Site_p.R168_splice NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GGGAGCACATCTGAAGAGGAA 0.338 NA 12 21 0.000151284 0.000162118 0.016723 1 0 RSPO3 84870 broad.mit.edu 37 6 127440428 127440428 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:127440428C>A uc003qar.2 + 1 381 c.91C>A c.(91-93)CGA>AGA p.R31R uc003qaq.1_Intron|RSPO3_uc003qas.1_Silent_p.R31R NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 31 extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) AAGGCGCCAGCGAAGAAGTAA 0.552 NA 27 35 1.17739e-12 1.53207e-12 0.005443 1 0 EYA4 2070 broad.mit.edu 37 6 133849905 133849905 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:133849905C>A uc003qec.3 + 20 2340 c.1882C>A c.(1882-1884)CTG>ATG p.L628M EYA4_uc011ecq.1_Missense_Mutation_p.L574M|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.L628M|EYA4_uc003qee.3_Missense_Mutation_p.L605M|EYA4_uc011ecs.1_Missense_Mutation_p.L634M|uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 628 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CTCAGACCTCCTGGCTCTCCA 0.323 Melanoma(57;398 1237 3528 4702 7415) NA 109 97 1.38406e-41 2.23907e-41 0.01441 1 0 MTHFD1L 25902 broad.mit.edu 37 6 151247409 151247409 + Nonsense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:151247409G>T uc003qob.2 + 11 1502 c.1234G>T c.(1234-1236)GGA>TGA p.G412* MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.G413*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.G360* NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 412 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TCAAGCAGATGGAAAATACGT 0.393 NA 47 47 4.18559e-23 6.28588e-23 0.01441 1 0 PLG 5340 broad.mit.edu 37 6 161134032 161134032 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:161134032C>A uc003qtm.3 + 5 485 c.422C>A c.(421-423)ACA>AAA p.T141K NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 141 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCACCTGCTACACACCCCTCA 0.483 NA 56 52 2.30037e-20 3.2896e-20 0.01441 1 0 ETV1 2115 broad.mit.edu 37 7 13971234 13971234 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:13971234T>A uc011jxq.1 - 9 1434 c.695A>T c.(694-696)CAC>CTC p.H232L ETV1_uc011jxn.1_Missense_Mutation_p.H192L|ETV1_uc011jxo.1_Missense_Mutation_p.H129L|ETV1_uc011jxp.1_Missense_Mutation_p.H174L|ETV1_uc003ssw.3_Missense_Mutation_p.H232L|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.H214L|ETV1_uc011jxs.1_Missense_Mutation_p.H214L|ETV1_uc010ktv.2_Missense_Mutation_p.H101L NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 232 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 CACTGGGTCGTGGTACTCCTG 0.522 NA T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 16 12 0 0 0.006122 0 0 C7orf69 80099 broad.mit.edu 37 7 47859104 47859104 + Splice_Site SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:47859104G>A uc003tnz.3 + 3 324 c.279_splice c.e3-1 p.S93_splice PKD1L1_uc003tny.1_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Intron NM_025031 NP_079307 Q9H7B7 CG069_HUMAN hypothetical protein LOC80099 precursor extracellular region 0 TTTGCACACAGCACCACCTAC 0.418 NA 10 6 0 0 0.006214 0 0 ABCA13 154664 broad.mit.edu 37 7 48312879 48312879 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:48312879G>T uc003toq.2 + 17 3641 c.3616G>T c.(3616-3618)GCT>TCT p.A1206S ABCA13_uc010kyr.2_Missense_Mutation_p.A709S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1206 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCATAATGTTGCTAGACTCAT 0.388 NA 16 9 1.45105e-14 1.96126e-14 0.006122 1 0 ABCA13 154664 broad.mit.edu 37 7 48337984 48337984 + Missense_Mutation SNP T T C rs117649711 by1000genomes TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:48337984T>C uc003toq.2 + 23 9246 c.9221T>C c.(9220-9222)ATG>ACG p.M3074T ABCA13_uc010kys.1_Missense_Mutation_p.M148T NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3074 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AAAGATTTGATGAAGAATATC 0.328 NA 10 14 0 0 0.006214 0 0 PCLO 27445 broad.mit.edu 37 7 82387927 82387927 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:82387927C>G uc003uhx.2 - 25 15682 c.15393G>C c.(15391-15393)TGG>TGC p.W5131C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 5054 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AAAGTTTGTGCCAGTTGACTA 0.393 NA 71 77 0 0 0.01441 0 0 PCLO 27445 broad.mit.edu 37 7 82579280 82579280 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:82579280G>T uc003uhx.2 - 6 10913 c.10624C>A c.(10624-10626)CGA>AGA p.R3542R PCLO_uc003uhv.2_Silent_p.R3542R|PCLO_uc010lec.2_Silent_p.R507R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3473 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCATCCACTCGTGCCCGTATG 0.448 NA 19 26 6.49762e-13 8.48132e-13 0.006122 1 0 COL1A2 1278 broad.mit.edu 37 7 94058669 94058669 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:94058669G>C uc003ung.1 + 51 4352 c.3881G>C c.(3880-3882)GGC>GCC p.G1294A COL1A2_uc011kib.1_Missense_Mutation_p.G146A NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1294 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ATTCTACAGGGCTCTAATGAT 0.448 NA HNSCC(75;0.22) 21 23 0 0 0.010504 0 0 CYP3A43 64816 broad.mit.edu 37 7 99445825 99445825 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:99445825G>T uc003urx.1 + 6 572 c.469G>T c.(469-471)GTG>TTG p.V157L CYP3A43_uc003ury.1_Missense_Mutation_p.V157L|CYP3A43_uc003urz.1_Missense_Mutation_p.V157L|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.G19V NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 157 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AGATATGTTGGTGAGAAGCCT 0.488 NA 7 14 1.06961e-07 1.23803e-07 0.00308 1 0 MUC17 140453 broad.mit.edu 37 7 100675733 100675733 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:100675733G>T uc003uxp.1 + 3 1089 c.1036G>T c.(1036-1038)GTT>TTT p.V346F MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 346 Extracellular (Potential).|Ser-rich.|3.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CACCATGCCGGTTGCCACTTC 0.483 NA 30 98 6.04164e-23 9.04089e-23 0.010818 1 0 C7orf60 154743 broad.mit.edu 37 7 112462041 112462041 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:112462041T>C uc003vgo.1 - 5 1103 c.976A>G c.(976-978)ACA>GCA p.T326A C7orf60_uc011kms.1_Missense_Mutation_p.T352A NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 326 ovary(2)|skin(1) 3 AAGTCACTTGTGGTTTTTAGA 0.373 NA 10 21 0 0 0.006214 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121653414 121653414 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:121653414C>A uc003vjy.2 + 12 4709 c.4314C>A c.(4312-4314)TCC>TCA p.S1438S PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1438 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ATGGCTTATCCATTCATAAGT 0.308 NA 11 31 0.000673444 0.000708978 0.008291 1 0 GRM8 2918 broad.mit.edu 37 7 126410120 126410120 + Splice_Site SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:126410120C>A uc003vlr.2 - 6 1468 c.1157_splice c.e6-1 p.G386_splice GRM8_uc003vls.2_Splice_Site|GRM8_uc011kof.1_Splice_Site|GRM8_uc003vlt.2_Splice_Site_p.G386_splice|GRM8_uc010lkz.1_Splice_Site|GRM8_uc003vlu.1_Splice_Site_p.G107_splice NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CGCTCCAGCCCTGCAAAATAA 0.378 NA HNSCC(24;0.065) 16 12 1.52009e-12 1.97188e-12 0.003163 1 0 TRIM24 8805 broad.mit.edu 37 7 138189108 138189108 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:138189108G>A uc003vuc.2 + 2 653 c.438G>A c.(436-438)AAG>AAA p.K146K TRIM24_uc003vub.2_Silent_p.K146K NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 146 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 TTTTTGTGAAGGACACTACTG 0.373 Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014) NA 42 50 0 0 0.011902 0 0 MLL3 58508 broad.mit.edu 37 7 151962287 151962287 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:151962287T>A uc003wla.2 - 8 1239 c.1020A>T c.(1018-1020)GAA>GAT p.E340D NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGTTTGCATCTTCCTTCGCTA 0.368 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 5 94 0 0 0.00308 0 0 CSMD1 64478 broad.mit.edu 37 8 2944645 2944645 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:2944645C>A uc011kwk.1 - 49 7841 c.7451G>T c.(7450-7452)TGG>TTG p.W2484L CSMD1_uc011kwj.1_Missense_Mutation_p.W1813L|CSMD1_uc010lrg.2_Missense_Mutation_p.W552L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2484 Sushi 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAGGGAGTCCCACTGGTACAT 0.478 NA 31 7 5.6714e-07 6.40517e-07 0.010818 1 0 NEFM 4741 broad.mit.edu 37 8 24775339 24775339 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:24775339G>T uc003xed.3 + 3 2004 c.1971G>T c.(1969-1971)CCG>CCT p.P657P NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Silent_p.P281P NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 657 4.|6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CTCCTGTGCCGAAATCACCAG 0.478 NA 33 4 1.56442e-22 2.30807e-22 0.012213 1 0 ADAM18 8749 broad.mit.edu 37 8 39587426 39587426 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:39587426C>A uc003xni.2 + 20 2187 c.2187C>A c.(2185-2187)TCC>TCA p.S729S ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.S705S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 729 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GTAATTCATCCGTTGTATCAG 0.308 NA 418 55 4.14718e-181 6.86826e-181 0.01441 1 0 HOOK3 84376 broad.mit.edu 37 8 42865485 42865485 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:42865485G>C uc003xpr.2 + 19 2018 c.1776G>C c.(1774-1776)AAG>AAC p.K592N NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 592 Potential.|Required for interaction with MSR1.|Required for association with Golgi. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) CTTTACGAAAGAAAGAGGAAG 0.269 NA T RET papillary thyroid 5 44 0 0 0.001168 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763422 77763422 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:77763422G>T uc003yav.2 + 10 4517 c.4130G>T c.(4129-4131)CGG>CTG p.R1377L ZFHX4_uc003yau.1_Missense_Mutation_p.R1422L|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1377L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1377 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATGCAATTCGGGCTGCGACA 0.458 NA HNSCC(33;0.089) 11 10 3.86212e-05 4.1923e-05 0.008291 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764395 77764395 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:77764395G>T uc003yav.2 + 10 5490 c.5103G>T c.(5101-5103)ACG>ACT p.T1701T ZFHX4_uc003yau.1_Silent_p.T1746T|ZFHX4_uc003yaw.1_Silent_p.T1701T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1701 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TACCTGGGACGGAGTTCAGCT 0.507 NA HNSCC(33;0.089) 14 29 5.01169e-05 5.4261e-05 0.00499 1 0 MMP16 4325 broad.mit.edu 37 8 89209482 89209482 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:89209482C>T uc003yeb.3 - 2 468 c.186G>A c.(184-186)GTG>GTA p.V62V MMP16_uc003yec.2_Silent_p.V62V NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 62 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 CAGAGCGCAGCACTGACATTC 0.438 NA 13 32 0 0 0.013537 0 0 OXR1 55074 broad.mit.edu 37 8 107752609 107752609 + Silent SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:107752609A>G uc011lht.1 + 13 2304 c.2205A>G c.(2203-2205)CCA>CCG p.P735P OXR1_uc003ymf.2_Silent_p.P707P|OXR1_uc011lhu.1_Silent_p.P700P|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Silent_p.P363P|OXR1_uc003ymk.2_Silent_p.P104P|OXR1_uc003yml.2_Silent_p.P77P NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 735 TLD. cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TTGGCTATCCATGGACTCTTG 0.368 NA 47 75 0 0 0.01441 0 0 COL14A1 7373 broad.mit.edu 37 8 121262859 121262859 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:121262859C>G uc003yox.2 + 22 2871 c.2606C>G c.(2605-2607)CCT>CGT p.P869R COL14A1_uc003yoy.2_Missense_Mutation_p.P547R NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 869 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCTTTAGTTCCTGGTCCAACA 0.383 NA 34 55 0 0 0.013726 0 0 ZC3H3 23144 broad.mit.edu 37 8 144621365 144621365 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:144621365T>A uc003yyd.2 - 2 201 c.172A>T c.(172-174)AGC>TGC p.S58C NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 58 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCCCTCCGGCTTGGACGAGGG 0.657 NA 25 37 0 0 0.007291 0 0 KLHL9 55958 broad.mit.edu 37 9 21333334 21333334 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:21333334A>G uc003zoy.2 - 1 2096 c.1525T>C c.(1525-1527)TAT>CAT p.Y509H KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 509 Kelch 5. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) ACATCATCATAATCACTTGTT 0.453 NA 167 32 0 0 0.01441 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745436 37745436 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:37745436C>T uc004aag.1 + 16 3451 c.3407C>T c.(3406-3408)TCC>TTC p.S1136F FRMPD1_uc004aah.1_Missense_Mutation_p.S1136F NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1136 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) TCAGGTGACTCCCCGGGTGAT 0.438 NA 25 5 0 0 0.01892 0 0 LOC442421 442421 broad.mit.edu 37 9 66499716 66499716 + Missense_Mutation SNP A A G rs141617852 by1000genomes TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:66499716A>G uc004aee.1 + 1 526 c.526A>G c.(526-528)AAT>GAT p.N176D LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 CCTGGAGCCCAATCTGCTGGA 0.607 NA 8 55 0 0 0.006214 0 0 ZNF883 169834 broad.mit.edu 37 9 115759674 115759674 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:115759674C>T uc011lwy.1 - 5 2105 c.866G>A c.(865-867)TGT>TAT p.C289Y NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGTTTCACACAAGAATGAAT 0.388 NA 6 136 0 0 0.004482 0 0 OR1J4 26219 broad.mit.edu 37 9 125281945 125281945 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:125281945C>A uc011lyw.1 + 1 526 c.526C>A c.(526-528)CAT>AAT p.H176N NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACCATCCCCCATTTCTTCTG 0.507 NA 35 13 4.34311e-12 5.54805e-12 0.015359 1 0 OR1N2 138882 broad.mit.edu 37 9 125316138 125316138 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:125316138G>A uc011lyx.1 + 1 690 c.690G>A c.(688-690)CTG>CTA p.L230L NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 230 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 CCCTCCTGCTGATCGTCTTCT 0.517 NA 102 22 0 0 0.01441 0 0 NUP188 23511 broad.mit.edu 37 9 131749115 131749115 + Missense_Mutation SNP C C T rs148207291 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:131749115C>T uc004bws.1 + 22 2247 c.2225C>T c.(2224-2226)GCG>GTG p.A742V NUP188_uc004bwu.2_Missense_Mutation_p.A85V NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 742 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 CTGATTCATGCGATACTGAAC 0.493 NA 4 50 0 0 0.014758 0 0 BAT2L1 84726 broad.mit.edu 37 9 134351524 134351524 + Silent SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:134351524A>G uc004can.3 + 15 4063 c.4008A>G c.(4006-4008)GCA>GCG p.A1336A BAT2L1_uc010mzj.1_Silent_p.A919A|BAT2L1_uc004cao.3_Silent_p.A694A NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1336 protein binding 0 ACCTGCTGGCAGGTCAGTGGC 0.677 NA OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 9 0 0 0.007413 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413252 139413252 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:139413252T>C uc004chz.2 - 6 890 c.890A>G c.(889-891)GAC>GGC p.D297G NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 297 Extracellular (Potential).|EGF-like 8; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTGGCACTCGTCCACATCCTC 0.637 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 18 1 0 0 0.007413 0 0 TUBBP5 643224 broad.mit.edu 37 9 141071154 141071154 + Missense_Mutation SNP T T C rs150819761 by1000genomes TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr9:141071154T>C uc004com.2 + 4 818 c.557T>C c.(556-558)GTC>GCC p.V186A TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 GTGAACATGGTCCCGTTTCCC 0.632 NA 8 17 0 0 0.00308 0 0 FANCB 2187 broad.mit.edu 37 X 14863236 14863236 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:14863236C>G uc004cwg.1 - 8 1937 c.1669G>C c.(1669-1671)GAT>CAT p.D557H FANCB_uc004cwh.1_Missense_Mutation_p.D557H NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 557 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) TTCTTGCTATCAGGGGTCAAC 0.388 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 81 99 0 0 0.01441 0 0 RAI2 10742 broad.mit.edu 37 X 17819005 17819005 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:17819005C>T uc004cyf.2 - 3 1696 c.1126G>A c.(1126-1128)GAG>AAG p.E376K RAI2_uc004cyg.2_Missense_Mutation_p.E376K|RAI2_uc010nfa.2_Missense_Mutation_p.E376K|RAI2_uc004cyh.3_Missense_Mutation_p.E376K|RAI2_uc011miy.1_Missense_Mutation_p.E326K NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 376 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) GGAAGTTTCTCCATCACTGTG 0.557 NA 24 43 0 0 0.016522 0 0 BEND2 139105 broad.mit.edu 37 X 18221854 18221854 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:18221854C>G uc004cyj.3 - 5 828 c.674G>C c.(673-675)GGC>GCC p.G225A BEND2_uc010nfb.2_Missense_Mutation_p.G225A NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 225 ovary(3)|kidney(1)|central_nervous_system(1) 5 AGGAAATGAGCCACCTTGTGC 0.453 NA 21 122 0 0 0.014323 0 0 PPEF1 5475 broad.mit.edu 37 X 18836203 18836203 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:18836203G>A uc004cyq.2 + 16 1922 c.1441G>A c.(1441-1443)GTG>ATG p.V481M PPEF1_uc004cyp.2_Missense_Mutation_p.V453M|PPEF1_uc004cyr.2_Missense_Mutation_p.V419M|PPEF1_uc004cys.2_Missense_Mutation_p.V481M|PPEF1_uc011mja.1_Missense_Mutation_p.V416M|PPEF1_uc011mjb.1_Missense_Mutation_p.V425M NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 481 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) AAGAGAGAGAGTGATTTCACG 0.348 NA 52 75 0 0 0.01441 0 0 FAM48B1 100130302 broad.mit.edu 37 X 24382893 24382893 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:24382893G>T uc011mjx.1 + 1 2016 c.2016G>T c.(2014-2016)CAG>CAT p.Q672H NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 CACCCCTTCAGTTTTTCCTAA 0.602 NA 28 34 1.08312e-15 1.49285e-15 0.009535 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973708 29973708 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:29973708A>G uc004dby.2 + 11 2370 c.1862A>G c.(1861-1863)CAG>CGG p.Q621R NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 621 Cytoplasmic (Potential).|Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 CAAATGCGTCAGAAACACTAC 0.527 NA 7 12 0 0 0.001984 0 0 MAGEB16 139604 broad.mit.edu 37 X 35821060 35821060 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:35821060C>A uc010ngt.1 + 2 1026 c.747C>A c.(745-747)CTC>CTA p.L249L NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 249 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 CCAGAATGCTCATCACCAAAG 0.502 NA 4 16 3.32936e-07 3.77027e-07 0.006122 1 0 CXorf38 159013 broad.mit.edu 37 X 40496313 40496313 + Silent SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:40496313C>G uc004dew.2 - 4 572 c.567G>C c.(565-567)CTG>CTC p.L189L CXorf38_uc011mko.1_Silent_p.L104L|CXorf38_uc004dev.1_Silent_p.L70L|CXorf38_uc010nhd.2_RNA NM_144970 NP_659407 Q8TB03 CX038_HUMAN hypothetical protein LOC159013 189 ovary(1) 1 TGAATTCATTCAGAAAATTTT 0.363 NA 52 57 0 0 0.01441 0 0 WAS 7454 broad.mit.edu 37 X 48547174 48547174 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:48547174C>A uc004dkm.3 + 10 1114 c.1057C>A c.(1057-1059)CCA>ACA p.P353T NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 353 Poly-Pro. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) TGCCCCACCCCCACCAACACC 0.692 NA Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome 3 2 6.4e-05 6.89509e-05 0.004672 1 0 OTUD5 55593 broad.mit.edu 37 X 48780529 48780529 + Silent SNP C C A rs138137225 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:48780529C>A uc004dlu.2 - 9 1699 c.1638G>T c.(1636-1638)CTG>CTT p.L546L OTUD5_uc004dlt.3_Silent_p.L541L|OTUD5_uc004dlv.2_Silent_p.L541L|OTUD5_uc011mmp.1_Silent_p.L324L NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 546 negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 GGGACACTGCCAGCACCGAAG 0.532 NA 23 39 0.00047179 0.000499192 0.01892 1 0 GPKOW 27238 broad.mit.edu 37 X 48972658 48972658 + Silent SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:48972658G>C uc004dmr.2 - 7 940 c.933C>G c.(931-933)GCC>GCG p.A311A NM_015698 NP_056513 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 311 nucleus nucleic acid binding ovary(2) 2 TCCGTGATGAGGCAGTTCCGT 0.537 NA 23 40 0 0 0.021523 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49034397 49034397 + Nonsense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:49034397G>T uc004dmy.1 - 7 926 c.900C>A c.(898-900)TGC>TGA p.C300* PRICKLE3_uc011mmv.1_Nonsense_Mutation_p.C232*|PRICKLE3_uc011mmw.1_Nonsense_Mutation_p.C219*|PRICKLE3_uc011mmx.1_Nonsense_Mutation_p.C262*|PRICKLE3_uc011mmy.1_Nonsense_Mutation_p.C287* NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 300 LIM zinc-binding 2. protein binding|zinc ion binding breast(1) 1 CGTAGCAGGCGCAGCAGTGGG 0.617 NA 14 25 0.00244969 0.00254065 0.020292 1 0 GSPT2 23708 broad.mit.edu 37 X 51486783 51486783 + Nonsense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:51486783G>T uc004dpl.2 + 1 287 c.61G>T c.(61-63)GAA>TAA p.E21* NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 21 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) GGTGGACATGGAATCCCCGGG 0.677 NA 10 23 0.000978159 0.00102462 0.010729 1 0 TRO 7216 broad.mit.edu 37 X 54949157 54949157 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:54949157C>A uc004dtq.2 + 3 299 c.192C>A c.(190-192)AAC>AAA p.N64K TRO_uc011moj.1_Missense_Mutation_p.N7K|TRO_uc004dts.2_Missense_Mutation_p.N64K|TRO_uc004dtr.2_Missense_Mutation_p.N64K|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 64 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CAGTTGTCAACCGGCCTAAGA 0.537 NA 7 12 0.000157383 0.000167795 0.00308 1 0 MTMR8 55613 broad.mit.edu 37 X 63488738 63488738 + Missense_Mutation SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:63488738C>T uc004dvs.2 - 14 1862 c.1794G>A c.(1792-1794)ATG>ATA p.M598I MTMR8_uc011mou.1_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 598 nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 TTACTTGATCCATCTGAGCTC 0.507 NA 21 27 0 0 0.008871 0 0 VSIG4 11326 broad.mit.edu 37 X 65259825 65259825 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:65259825C>A uc004dwh.2 - 1 143 c.16G>T c.(16-18)GGC>TGC p.G6C VSIG4_uc004dwi.2_Missense_Mutation_p.G6C|VSIG4_uc010nkq.1_Missense_Mutation_p.G6C|VSIG4_uc004dwj.2_Missense_Mutation_p.G6C|VSIG4_uc011moy.1_Missense_Mutation_p.G6C|VSIG4_uc004dwk.2_Missense_Mutation_p.G6C NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 6 complement activation, alternative pathway integral to membrane protein binding 0 AGTAGCAGGCCCAGTAAGATC 0.567 NA 9 24 2.80697e-09 3.3992e-09 0.010729 1 0 HEPH 9843 broad.mit.edu 37 X 65415023 65415023 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:65415023C>A uc011moz.1 + 9 1522 c.1462C>A c.(1462-1464)CAT>AAT p.H488N HEPH_uc004dwn.2_Missense_Mutation_p.H488N|HEPH_uc004dwo.2_Missense_Mutation_p.H218N|HEPH_uc010nkr.2_Missense_Mutation_p.H488N|HEPH_uc011mpa.1_Missense_Mutation_p.H488N NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 485 Extracellular (Potential).|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CATGCAGCCCCATGGGGTCTT 0.522 NA 22 25 6.44725e-10 7.92199e-10 0.014323 1 0 KIF4A 24137 broad.mit.edu 37 X 69622419 69622419 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:69622419T>A uc004dyg.2 + 23 2620 c.2493T>A c.(2491-2493)AGT>AGA p.S831R KIF4A_uc010nkw.2_Missense_Mutation_p.S831R NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 831 Potential.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 CCTGAAGGAGTGCTCAGATTG 0.453 NA 11 19 0 0 0.010729 0 0 FOXO4 4303 broad.mit.edu 37 X 70321152 70321152 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:70321152G>T uc004dys.1 + 2 1425 c.1072G>T c.(1072-1074)GGG>TGG p.G358W FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.G303W NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 358 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) AGCAGGAGAAGGGTGCTTCTC 0.612 NA OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 10 4.7546e-09 5.74115e-09 0.004007 1 0 P2RY10 27334 broad.mit.edu 37 X 78216792 78216792 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:78216792T>C uc004ede.2 + 4 1144 c.775T>C c.(775-777)TAT>CAT p.Y259H P2RY10_uc004edf.2_Missense_Mutation_p.Y259H NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 259 Helical; Name=6; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CTTCACTCCCTATCATATTAA 0.458 NA 56 52 0 0 0.01441 0 0 GPR174 84636 broad.mit.edu 37 X 78426678 78426678 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:78426678G>C uc004edg.1 + 1 210 c.174G>C c.(172-174)ATG>ATC p.M58I NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 58 Helical; Name=2; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 TGATATTTATGATAAACTTAG 0.408 NA HNSCC(63;0.18) 10 17 0 0 0.008291 0 0 CHM 1121 broad.mit.edu 37 X 85213879 85213879 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:85213879C>A uc004eet.2 - 6 836 c.806G>T c.(805-807)GGA>GTA p.G269V CHM_uc011mqz.1_Missense_Mutation_p.G121V NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 269 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) TTCCACTCGTCCTTCTCGAAA 0.338 NA 37 87 3.78316e-11 4.73177e-11 0.00623 1 0 NRK 203447 broad.mit.edu 37 X 105167150 105167150 + Missense_Mutation SNP T T A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:105167150T>A uc004emd.2 + 18 2954 c.2651T>A c.(2650-2652)GTA>GAA p.V884E NRK_uc010npc.1_Missense_Mutation_p.V552E NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 884 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TCACCCCCTGTATACTTGACA 0.418 NA HNSCC(51;0.14) 77 98 0 0 0.01441 0 0 CHRDL1 91851 broad.mit.edu 37 X 109924711 109924711 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:109924711C>A uc004eou.3 - 10 1504 c.1155G>T c.(1153-1155)AAG>AAT p.K385N CHRDL1_uc004eov.2_Missense_Mutation_p.K374N|CHRDL1_uc004eow.2_Missense_Mutation_p.K383N|CHRDL1_uc010nps.2_Missense_Mutation_p.K384N|CHRDL1_uc004eot.2_Missense_Mutation_p.K304N|CHRDL1_uc011mss.1_Missense_Mutation_p.K299N NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 377 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 CTTGCTCACCCTTTCGAATAG 0.443 NA 51 73 7.77372e-23 1.15914e-22 0.01441 1 0 WDR44 54521 broad.mit.edu 37 X 117570726 117570726 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:117570726G>C uc004eqn.2 + 14 2338 c.1913G>C c.(1912-1914)AGA>ACA p.R638T WDR44_uc004eqo.2_Missense_Mutation_p.R638T|WDR44_uc011mtr.1_Missense_Mutation_p.R613T|WDR44_uc010nqi.2_Missense_Mutation_p.R348T NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 638 WD 2. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 ATTTCTCGAAGAGAATGCCTT 0.328 NA 39 53 0 0 0.00623 0 0 UPF3B 65109 broad.mit.edu 37 X 118972013 118972013 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:118972013G>T uc004erz.1 - 10 1086 c.1009C>A c.(1009-1011)CCT>ACT p.P337T UPF3B_uc004esa.1_Missense_Mutation_p.P324T NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 337 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 TCATCTTCAGGTCTGCATGAA 0.473 NA 64 79 5.10508e-28 7.8931e-28 0.01441 1 0 GLUD2 2747 broad.mit.edu 37 X 120182428 120182428 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:120182428C>A uc004eto.2 + 1 967 c.890C>A c.(889-891)CCA>CAA p.P297Q NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 297 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) GGAATGACACCAGGGTTTAGA 0.408 NA 76 106 1.76847e-28 2.75461e-28 0.01441 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299865 125299865 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:125299865C>A uc004euk.1 - 1 70 c.43G>T c.(43-45)GCG>TCG p.A15S NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 15 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCCTCGACCGCGGGCGCTTTC 0.567 NA 7 6 2.0095e-06 2.25732e-06 0.001984 1 0 BCORL1 63035 broad.mit.edu 37 X 129148566 129148566 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:129148566G>C uc004evb.1 + 4 1932 c.1818G>C c.(1816-1818)CAG>CAC p.Q606H BCORL1_uc010nrd.1_Missense_Mutation_p.Q508H NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 606 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 CACCGCCACAGCTGGAACGAG 0.602 NA 17 33 0 0 0.007413 0 0 RAB33A 9363 broad.mit.edu 37 X 129306210 129306210 + Silent SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:129306210G>T uc004evl.2 + 1 438 c.174G>T c.(172-174)GGG>GGT p.G58G RAB33A_uc010nre.2_RNA NM_004794 NP_004785 Q14088 RB33A_HUMAN Ras-related protein Rab-33A 58 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding 0 GCTTCTGCGGGGGTACCTTCC 0.562 NA 21 42 3.8784e-16 5.36321e-16 0.012319 1 0 ZNF75D 7626 broad.mit.edu 37 X 134427710 134427710 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:134427710C>A uc004eyp.2 - 3 3012 c.357G>T c.(355-357)CAG>CAT p.Q119H ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.Q119H NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 119 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGACCAGAGCCTGTTTGACAT 0.463 NA 62 55 1.41401e-22 2.10095e-22 0.01441 1 0 SLC9A6 10479 broad.mit.edu 37 X 135067822 135067822 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:135067822A>T uc004ezj.2 + 1 237 c.161A>T c.(160-162)GAC>GTC p.D54V SLC9A6_uc004ezk.2_Missense_Mutation_p.D54V|SLC9A6_uc011mvx.1_Missense_Mutation_p.D2V NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 54 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) AGAGCCATGGACGAGGAGATC 0.647 NA 22 43 0 0 0.01892 0 0 VGLL1 51442 broad.mit.edu 37 X 135631064 135631064 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:135631064C>T uc004ezy.2 + 3 701 c.531C>T c.(529-531)TGC>TGT p.C177C MIR934_hsa-mir-934|MI0005756_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) AAGACAGATGCCTAGCCCGTC 0.607 NA 6 133 0 0 0.001984 0 0 F9 2158 broad.mit.edu 37 X 138642899 138642899 + Splice_Site SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:138642899G>T uc004fas.1 + 7 753 c.724_splice c.e7-1 p.V242_splice F9_uc004fat.1_Splice_Site_p.V204_splice NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGTTTTCACAGGTTGTTTTGA 0.338 NA 57 66 7.47603e-22 1.09526e-21 0.01441 1 0 MCF2 4168 broad.mit.edu 37 X 138689898 138689898 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:138689898C>A uc004fau.2 - 12 1736 c.1442G>T c.(1441-1443)GGT>GTT p.G481V MCF2_uc004fav.2_Missense_Mutation_p.G497V|MCF2_uc011mwl.1_Missense_Mutation_p.G458V|MCF2_uc010nsh.1_Missense_Mutation_p.G481V|MCF2_uc011mwm.1_Missense_Mutation_p.G442V|MCF2_uc011mwn.1_Missense_Mutation_p.G626V|MCF2_uc004faw.2_Missense_Mutation_p.G541V|MCF2_uc011mwo.1_Missense_Mutation_p.G557V NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 481 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) GGAGGATGGACCAGAACTTCT 0.353 NA 27 44 3.90053e-15 5.30624e-15 0.012213 1 0 ATP11C 286410 broad.mit.edu 37 X 138880430 138880430 + Splice_Site SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:138880430A>G uc004faz.2 - 10 965 c.866_splice c.e10+1 p.K289_splice ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Splice_Site_p.K289_splice NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) GCGCATACTAACTTTTCAACA 0.313 NA 23 70 0 0 0.01892 0 0 TMEM185A 84548 broad.mit.edu 37 X 148693003 148693003 + Missense_Mutation SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:148693003C>A uc011mxq.1 - 3 493 c.182G>T c.(181-183)GGA>GTA p.G61V HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Intron|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_5'Flank NM_032508 NP_115897 Q8NFB2 T185A_HUMAN transmembrane protein 185A 61 Helical; (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GACTCCAGTTCCAACTGAGGC 0.458 NA 126 215 2.87069e-51 4.69851e-51 0.01441 1 0 ATP2B3 492 broad.mit.edu 37 X 152825273 152825273 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:152825273C>A uc004fht.1 + 16 2838 c.2712C>A c.(2710-2712)CCC>CCA p.P904P ATP2B3_uc004fhs.1_Silent_p.P904P|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 904 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGAGCCACCCACAGAGTCGC 0.602 NA 24 22 1.22574e-08 1.4632e-08 0.014323 1 0 SLC6A8 6535 broad.mit.edu 37 X 152958790 152958790 + Missense_Mutation SNP A A T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:152958790A>T uc004fib.3 + 6 1263 c.985A>T c.(985-987)AGC>TGC p.S329C SLC6A8_uc004fic.3_Missense_Mutation_p.S329C|SLC6A8_uc011myx.1_Missense_Mutation_p.S214C|SLC6A8_uc010nuj.2_RNA NM_005629 NP_005620 P48029 SC6A8_HUMAN solute carrier family 6 member 8 isoform 1 329 Cytoplasmic (Potential). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) AGCCCTGGGCAGCTACAACCG 0.507 NA 24 36 0 0 0.01892 0 0 ABCD1 215 broad.mit.edu 37 X 152991456 152991456 + Silent SNP C C T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:152991456C>T uc004fif.2 + 1 1134 c.735C>T c.(733-735)GCC>GCT p.A245A BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 245 ABC transmembrane type-1.|Helical; (Potential). fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCCCTCGGCCATCGCCGGCC 0.701 NA 16 11 0 0 0.003163 0 0 FLNA 2316 broad.mit.edu 37 X 153582821 153582821 + Missense_Mutation SNP C C G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:153582821C>G uc004fkk.2 - 33 5593 c.5344G>C c.(5344-5346)GGG>CGG p.G1782R FLNA_uc004fki.2_5'Flank|FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.G1774R NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1782 Filamin 16. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACATCCAGCCCATTGACACCC 0.612 NA 12 20 0 0 0.020292 0 0 FLNA 2316 broad.mit.edu 37 X 153596271 153596271 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:153596271G>T uc004fkk.2 - 3 810 c.561C>A c.(559-561)AAC>AAA p.N187K FLNA_uc010nuu.1_Missense_Mutation_p.N187K NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 187 CH 2.|Actin-binding. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCGGCTGAAGTTGGTGATGG 0.687 NA 24 36 1.10923e-09 1.35501e-09 0.016522 1 0 F8 2157 broad.mit.edu 37 X 154157090 154157090 + Missense_Mutation SNP G G T TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chrX:154157090G>T uc004fmt.2 - 14 5146 c.4975C>A c.(4975-4977)CCA>ACA p.P1659T NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1659 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGACTGGTGGGTTTTGAGAG 0.418 NA 61 84 4.09106e-26 6.25604e-26 0.01441 1 0 MTF2 22823 broad.mit.edu 37 1 93602318 93602327 + Frame_Shift_Del DEL AGAGCACTCC AGAGCACTCC - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 AGAGCACTCC AGAGCACTCC - - AGAGCACTCC AGAGCACTCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:93602318_93602327delAGAGCACTCC uc009wdj.2 + 15 1808_1817 c.1516_1525delAGAGCACTCC c.(1516-1527)AGAGCACTCCAGfs p.R506fs MTF2_uc010oth.1_Frame_Shift_Del_p.R404fs|MTF2_uc009wdk.2_Frame_Shift_Del_p.R449fs|MTF2_uc001dpi.3_Frame_Shift_Del_p.R233fs|MTF2_uc010oti.1_Frame_Shift_Del_p.R404fs|MTF2_uc001dpj.3_Frame_Shift_Del_p.R404fs|MTF2_uc001dpl.3_Frame_Shift_Del_p.R404fs|MTF2_uc001dpm.3_Frame_Shift_Del_p.R175fs NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 506_509 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) TCTTCCAAGAAGAGCACTCCAGACTCAGAA 0.41 NA 8 117 --- --- --- --- NA NA NA NA NA FAM40A 85369 broad.mit.edu 37 1 110590442 110590442 + Frame_Shift_Del DEL A A - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr1:110590442delA uc001dza.1 + 15 1631 c.1612delA c.(1612-1614)AAAfs p.K538fs FAM40A_uc001dyz.1_Frame_Shift_Del_p.K443fs|FAM40A_uc009wfp.1_Frame_Shift_Del_p.K362fs NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 538 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) CTCAAAAGCCAAAACAGACTC 0.502 NA 2 4 --- --- --- --- NA NA NA NA NA COX8A 1351 broad.mit.edu 37 11 63743756 63743764 + In_Frame_Del DEL CCTGTCACA CCTGTCACA - rs11550240 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 CCTGTCACA CCTGTCACA - - CCTGTCACA CCTGTCACA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr11:63743756_63743764delCCTGTCACA uc001nye.2 + 2 248_256 c.174_182delCCTGTCACA c.(172-183)ATCCTGTCACAC>ATC p.LSH59del NM_004074 NP_004065 P10176 COX8A_HUMAN cytochrome c oxidase subunit VIIIa precursor 59_61 Mitochondrial intermembrane (By similarity). respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity 0 CGGGCTGGATCCTGTCACACCTGGAGACC 0.579 NA 48 87 --- --- --- --- NA NA NA NA NA NT5M 56953 broad.mit.edu 37 17 17207098 17207098 + Frame_Shift_Del DEL G G - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:17207098delG uc002grf.2 + 1 419 c.234delG c.(232-234)TCGfs p.S78fs NT5M_uc002gre.2_Frame_Shift_Del_p.S78fs|NT5M_uc002grg.2_Frame_Shift_Del_p.S78fs NM_020201 NP_064586 Q9NPB1 NT5M_HUMAN 5',3'-nucleotidase, mitochondrial precursor 78 DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix 5'-nucleotidase activity|metal ion binding|nucleotide binding 0 TCTGGGTGTCGGAGCAGTACG 0.617 NA 2 4 --- --- --- --- NA NA NA NA NA SUPT6H 6830 broad.mit.edu 37 17 27015143 27015143 + Frame_Shift_Del DEL G G - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr17:27015143delG uc002hby.2 + 24 3131 c.3041delG c.(3040-3042)CGGfs p.R1014fs SUPT6H_uc010crt.2_Frame_Shift_Del_p.R1014fs|SUPT6H_uc002hbz.1_5'Flank NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1014 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) CTCGAGAGCCGGACCCAGCTG 0.607 NA 40 50 --- --- --- --- NA NA NA NA NA COL29A1 256076 broad.mit.edu 37 3 130095082 130095082 + Frame_Shift_Del DEL C C - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:130095082delC uc010htj.1 + 3 564 c.70delC c.(70-72)CCAfs p.P24fs COL29A1_uc010hti.1_RNA NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 24 Nonhelical region. axon guidance|cell adhesion collagen 0 TTTGATAGGGCCAGGCCCTGT 0.388 NA 28 53 --- --- --- --- NA NA NA NA NA BCHE 590 broad.mit.edu 37 3 165491179 165491180 + Frame_Shift_Del DEL CA CA - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:165491179_165491180delCA uc003fem.3 - 4 1959_1960 c.1799_1800delTG c.(1798-1800)GTGfs p.V600fs BCHE_uc003fen.3_RNA NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 600 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ATTAGAGACCCACACAACTTTC 0.342 NA 15 39 --- --- --- --- NA NA NA NA NA NDUFB5 4711 broad.mit.edu 37 3 179322663 179322663 + Frame_Shift_Del DEL C C - rs2271840 TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr3:179322663delC uc003fkc.2 + 1 89 c.60delC c.(58-60)GGCfs p.G20fs MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Frame_Shift_Del_p.G20fs NM_002492 NP_002483 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 20 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity skin(1) 1 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) CTCTGTCTGGCCGGCCCCTTG 0.652 NA 15 31 --- --- --- --- NA NA NA NA NA GBA3 57733 broad.mit.edu 37 4 22749429 22749429 + Frame_Shift_Del DEL A A - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr4:22749429delA uc003gqp.3 + 3 888 c.797delA c.(796-798)GAAfs p.E266fs GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Frame_Shift_Del_p.E267fs NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 266 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 GATTATCCTGAAGTTGTCAAG 0.428 NA 13 30 --- --- --- --- NA NA NA NA NA DNAH8 1769 broad.mit.edu 37 6 38743667 38743667 + Frame_Shift_Del DEL A A - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr6:38743667delA uc003ooe.1 + 11 1851 c.1251delA c.(1249-1251)CCAfs p.P417fs NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTCTGGATCCAAGAAGGACAG 0.303 NA 63 105 --- --- --- --- NA NA NA NA NA DGKB 1607 broad.mit.edu 37 7 14216483 14216484 + Frame_Shift_Ins INS - - A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr7:14216483_14216484insA uc003ssz.2 - 24 2474_2475 c.2287_2288insT c.(2287-2289)TGGfs p.W763fs DGKB_uc011jxt.1_Frame_Shift_Ins_p.W744fs|DGKB_uc003sta.2_Frame_Shift_Ins_p.W763fs|DGKB_uc011jxu.1_Frame_Shift_Ins_p.W762fs NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 763 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) GGTCTGCATCCATGGCTCCCCA 0.381 NA 80 90 --- --- --- --- NA NA NA NA NA CNBD1 168975 broad.mit.edu 37 8 88296927 88296927 + Frame_Shift_Del DEL G G - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 290847c6-c9d4-4a16-a70f-0488e3718f35 d65ae314-41bc-4273-aafb-507f31c1fa0a g.chr8:88296927delG uc003ydy.2 + 7 841 c.793delG c.(793-795)GGGfs p.G265fs NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 265 ovary(3) 3 GAGTACCTTTGGGACTCTGGA 0.393 NA 7 9 --- --- --- --- NA NA NA NA NA