Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PLEKHG5 57449 broad.mit.edu 37 1 6529217 6529217 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:6529217C>T uc001ano.1 - 20 2403 c.2302G>A c.(2302-2304)GAG>AAG p.E768K PLEKHG5_uc001ann.1_Missense_Mutation_p.E749K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E789K|PLEKHG5_uc001anp.1_Missense_Mutation_p.E789K|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.E273K|PLEKHG5_uc009vma.1_Missense_Mutation_p.E552K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E781K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E712K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E712K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E712K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E712K|PLEKHG5_uc001anr.1_5'UTR NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 768 Glu-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) tcttcctcctcctgctcatcc 0.433 NA 17 87 0 0 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26888033 26888033 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:26888033A>T uc001bmr.1 + 17 1632 c.1469A>T c.(1468-1470)GAG>GTG p.E490V RPS6KA1_uc010ofe.1_Missense_Mutation_p.E398V|RPS6KA1_uc010off.1_Missense_Mutation_p.E474V|RPS6KA1_uc001bms.1_Missense_Mutation_p.E499V|RPS6KA1_uc009vsl.1_Missense_Mutation_p.E333V NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 490 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CTGGTGACAGAGCTGATGCGG 0.582 NA 16 132 0 0 0 0 EYA3 2140 broad.mit.edu 37 1 28339624 28339624 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:28339624G>C uc001bpi.1 - 9 932 c.767C>G c.(766-768)TCT>TGT p.S256C EYA3_uc010ofs.1_Missense_Mutation_p.S203C|EYA3_uc010oft.1_Missense_Mutation_p.S210C|EYA3_uc001bpj.2_Missense_Mutation_p.S210C|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 256 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) GTGCTTACCAGAGGAAAGTCT 0.468 NA 4 110 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39797053 39797053 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:39797053G>A uc010oiu.1 + 1 244 c.113G>A c.(112-114)GGC>GAC p.G38D MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1603 Plectin 1. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTGGAGGAGGGCATAGCCAGA 0.537 NA 4 76 0 0 0 0 TTC22 55001 broad.mit.edu 37 1 55266812 55266812 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:55266812C>T uc009vzt.1 - 1 130 c.25G>A c.(25-27)GAC>AAC p.D9N TTC22_uc001cxz.3_Missense_Mutation_p.D9N NM_001114108 NP_001107580 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 isoform 1 9 binding 0 TCTAGATCGTCGGCCACAGCC 0.667 NA 3 26 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66036308 66036308 + Nonsense_Mutation SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:66036308G>T uc001dci.2 + 4 395 c.193G>T c.(193-195)GAG>TAG p.E65* LEPR_uc001dcg.2_Nonsense_Mutation_p.E65*|LEPR_uc001dch.2_Nonsense_Mutation_p.E65*|LEPR_uc009waq.2_Nonsense_Mutation_p.E65*|LEPR_uc001dcj.2_Nonsense_Mutation_p.E65*|LEPR_uc001dck.2_Nonsense_Mutation_p.E65* NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 65 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) TGGACATTATGAGACAGCTGT 0.378 NA 4 103 0.00909568 0.00939203 1 0 SFRS11 9295 broad.mit.edu 37 1 70716156 70716156 + Silent SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:70716156A>G uc001des.2 + 12 1351 c.1227A>G c.(1225-1227)GAA>GAG p.E409E SFRS11_uc001det.2_Silent_p.E409E|SFRS11_uc001deu.2_Silent_p.E416E|SFRS11_uc001dev.2_Silent_p.E219E|SFRS11_uc001dew.2_Silent_p.E349E NM_004768 NP_004759 Q05519 SRS11_HUMAN splicing factor, arginine/serine-rich 11 409 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 aggaCCGGGAAAGAAAATCAG 0.154 NA 5 60 0 0 0 0 SLC44A5 204962 broad.mit.edu 37 1 75683637 75683637 + Missense_Mutation SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:75683637G>T uc001dgu.2 - 18 1682 c.1538C>A c.(1537-1539)ACA>AAA p.T513K SLC44A5_uc001dgt.2_Missense_Mutation_p.T513K|SLC44A5_uc001dgs.2_Missense_Mutation_p.T471K|SLC44A5_uc001dgr.2_Missense_Mutation_p.T471K|SLC44A5_uc010oqz.1_Missense_Mutation_p.T552K|SLC44A5_uc010ora.1_Missense_Mutation_p.T507K|SLC44A5_uc010orb.1_Missense_Mutation_p.T383K NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 513 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TAGGGATCCTGTGTGATATCT 0.284 NA 4 45 0.00909568 0.00939203 1 0 LPAR3 23566 broad.mit.edu 37 1 85331150 85331150 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:85331150G>A uc001dkl.2 - 1 693 c.654C>T c.(652-654)AAC>AAT p.N218N LPAR3_uc009wcj.1_Silent_p.N218N NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 218 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 GAGACAAGACGTTGGTTTTCC 0.512 NA 5 37 0 0 0 0 GBP4 115361 broad.mit.edu 37 1 89657032 89657032 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:89657032G>A uc001dnb.2 - 6 944 c.828C>T c.(826-828)TTC>TTT p.F276F NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 276 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) ATTGCATAAGGAAATGCCTTT 0.413 NA 9 87 0 0 0 0 LRRC39 127495 broad.mit.edu 37 1 100620742 100620742 + Missense_Mutation SNP G G A rs149823600 TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:100620742G>A uc001dsw.1 - 8 876 c.677C>T c.(676-678)ACG>ATG p.T226M LRRC39_uc001dsx.1_Missense_Mutation_p.T226M|LRRC39_uc001dsy.1_Missense_Mutation_p.T226M|LRRC39_uc001dsz.1_Missense_Mutation_p.T226M NM_144620 NP_653221 Q96DD0 LRC39_HUMAN leucine rich repeat containing 39 226 LRR 7. ovary(2)|skin(1) 3 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) CAGCCATAACGTATGTAGATT 0.279 NA 7 29 0 0 0 0 KCNA3 3738 broad.mit.edu 37 1 111216896 111216896 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:111216896A>T uc001dzv.1 - 1 760 c.536T>A c.(535-537)ATT>AAT p.I179N NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 179 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCGGAGAAAATGTCGATGGG 0.647 NA 23 98 0 0 0 0 FAM46C 54855 broad.mit.edu 37 1 118166445 118166445 + Missense_Mutation SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:118166445G>T uc001ehe.2 + 2 1154 c.955G>T c.(955-957)GTG>TTG p.V319L NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN hypothetical protein LOC54855 319 0 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CGAGAGCACCGTGTGTCTCAT 0.537 NA Multiple Myeloma(3;1.13e-06) 12 43 1.62e-10 1.88e-10 1 0 YY1AP1 55249 broad.mit.edu 37 1 155640205 155640205 + Missense_Mutation SNP T T C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:155640205T>C uc001fln.2 - 8 856 c.832A>G c.(832-834)AGC>GGC p.S278G YY1AP1_uc001flg.2_5'UTR|YY1AP1_uc010pgg.1_Missense_Mutation_p.S117G|YY1AP1_uc010pgh.1_Missense_Mutation_p.S201G|YY1AP1_uc010pgi.1_Missense_Mutation_p.S350G|YY1AP1_uc001flh.2_Missense_Mutation_p.S350G|YY1AP1_uc009wqt.2_Missense_Mutation_p.S201G|YY1AP1_uc001flk.2_Missense_Mutation_p.S201G|YY1AP1_uc001fll.2_Missense_Mutation_p.S212G|YY1AP1_uc009wqv.2_Intron|YY1AP1_uc001flm.2_Missense_Mutation_p.S201G|YY1AP1_uc001fli.2_Missense_Mutation_p.S212G|YY1AP1_uc009wqu.2_Missense_Mutation_p.S45G|YY1AP1_uc001flj.2_Missense_Mutation_p.S212G|YY1AP1_uc009wqw.2_Missense_Mutation_p.S201G|YY1AP1_uc001flo.2_Missense_Mutation_p.S146G|YY1AP1_uc001flp.2_Missense_Mutation_p.S212G|YY1AP1_uc010pgj.1_Missense_Mutation_p.S278G|YY1AP1_uc009wqx.2_Missense_Mutation_p.S350G|YY1AP1_uc010pgk.1_Intron NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 278 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AAAACCTTGCTTGTGGCCAGG 0.428 NA 31 60 0 0 0 0 KIF14 9928 broad.mit.edu 37 1 200550376 200550376 + Silent SNP T T C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:200550376T>C uc010ppk.1 - 20 3727 c.3288A>G c.(3286-3288)GAA>GAG p.E1096E KIF14_uc010ppj.1_Silent_p.E605E NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1096 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TAGCATTGGCTTCCTGAATCA 0.328 NA 18 75 0 0 0 0 AGT 183 broad.mit.edu 37 1 230839947 230839947 + Missense_Mutation SNP C C G rs61751067 TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:230839947C>G uc001hty.3 - 4 1769 c.1261G>C c.(1261-1263)GTG>CTG p.V421L AGT_uc009xfe.2_Intron|AGT_uc009xff.2_Missense_Mutation_p.V393L NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 421 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) ACCTCCCCCACCCTGATGCGG 0.582 NA 13 39 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237777871 237777871 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:237777871G>A uc001hyl.1 + 37 5563 c.5443G>A c.(5443-5445)GAA>AAA p.E1815K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1815 Cytoplasmic (By similarity).|4 X approximate repeats. 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) AGGGACTACTGAATTCCTCTT 0.483 NA 26 202 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237947096 237947096 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:237947096G>A uc001hyl.1 + 90 12204 c.12084G>A c.(12082-12084)TCG>TCA p.S4028S RYR2_uc010pya.1_Silent_p.S443S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4028 EF-hand. 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) ATTTGACGTCGTCTGATACTT 0.423 NA 4 19 0 0 0 0 CHRM3 1131 broad.mit.edu 37 1 240072485 240072485 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:240072485G>A uc001hyp.2 + 5 2513 c.1734G>A c.(1732-1734)TCG>TCA p.S578S NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 578 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AGAGACAGTCGGTCATTTTTC 0.488 NA 9 49 0 0 0 0 OR14A16 284532 broad.mit.edu 37 1 247978352 247978352 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:247978352G>A uc001idm.1 - 1 680 c.680C>T c.(679-681)CCT>CTT p.P227L NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCTGTGGAAGGGATCTTCTT 0.403 NA 10 54 0 0 0 0 MLLT10 8028 broad.mit.edu 37 10 22022748 22022748 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:22022748C>T uc001iqs.2 + 21 2944 c.2596C>T c.(2596-2598)CCA>TCA p.P866S MLLT10_uc001iqt.2_Missense_Mutation_p.P850S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.P850S|MLLT10_uc001ira.2_Missense_Mutation_p.P307S|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 866 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 TCTTTCTACCCCACCTCCTGC 0.527 NA T MLL|PICALM|CDK6 AL 11 35 0 0 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43678751 43678751 + Nonsense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:43678751C>T uc001jan.2 + 8 1725 c.1390C>T c.(1390-1392)CGA>TGA p.R464* NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 464 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 TCATCTTTATCGAAAATACTT 0.438 NA 6 132 0 0 0 0 PRKG1 5592 broad.mit.edu 37 10 54053631 54053631 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:54053631G>C uc001jjm.2 + 18 2181 c.1987G>C c.(1987-1989)GAC>CAC p.D663H PRKG1_uc001jjo.2_Missense_Mutation_p.D678H|PRKG1_uc009xow.1_Missense_Mutation_p.D381H|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 663 AGC-kinase C-terminal. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ACCACCTGATGACAACTCAGG 0.433 NA 8 60 0 0 0 0 LRIT2 340745 broad.mit.edu 37 10 85984686 85984686 + Missense_Mutation SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:85984686G>T uc001kcy.2 - 2 303 c.295C>A c.(295-297)CTG>ATG p.L99M LRIT2_uc010qmc.1_Missense_Mutation_p.L99M NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 99 LRR 1. integral to membrane ovary(2) 2 AGGTGTTCCAGGGCTCCTAGG 0.522 NA 10 136 2.18e-05 2.39e-05 1 0 HELLS 3070 broad.mit.edu 37 10 96333910 96333910 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:96333910G>A uc001kjt.2 + 8 776 c.671G>A c.(670-672)CGA>CAA p.R224Q HELLS_uc001kjs.2_Missense_Mutation_p.R208Q|HELLS_uc009xul.2_Missense_Mutation_p.R224Q|HELLS_uc009xum.2_Missense_Mutation_p.R224Q|HELLS_uc009xun.2_Missense_Mutation_p.R100Q|HELLS_uc009xuo.2_Missense_Mutation_p.R224Q|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R86Q|HELLS_uc009xur.2_RNA NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 224 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity ovary(1)|kidney(1) 2 Colorectal(252;0.0429) all cancers(201;2.13e-05) GGAGTGATGCGATGGTACCAA 0.393 NA 5 92 0 0 0 0 CYP2C8 1558 broad.mit.edu 37 10 96827015 96827015 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:96827015C>T uc001kkb.2 - 3 526 c.431G>A c.(430-432)CGT>CAT p.R144H CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.R74H|CYP2C8_uc010qob.1_Missense_Mutation_p.R58H|CYP2C8_uc010qoc.1_Missense_Mutation_p.R42H|CYP2C8_uc010qod.1_Missense_Mutation_p.R58H NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 144 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CTCTTGAACACGGTCCTCAAT 0.498 NA 41 100 0 0 0 0 CCDC147 159686 broad.mit.edu 37 10 106160509 106160509 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:106160509G>C uc001kyh.2 + 13 2021 c.1887G>C c.(1885-1887)GAG>GAC p.E629D NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 629 ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TGCTCTATGAGAAGATCAAGA 0.488 NA 11 60 0 0 0 0 MKI67 4288 broad.mit.edu 37 10 129905202 129905202 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:129905202C>G uc001lke.2 - 13 5097 c.4902G>C c.(4900-4902)AAG>AAC p.K1634N MKI67_uc001lkf.2_Missense_Mutation_p.K1274N|MKI67_uc009yav.1_Missense_Mutation_p.K1209N|MKI67_uc009yaw.1_Missense_Mutation_p.K784N NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1634 6.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCAGGGATGTCTTGAGCCGTC 0.502 NA 8 177 0 0 0 0 EBF3 253738 broad.mit.edu 37 10 131640443 131640443 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:131640443C>T uc001lki.1 - 13 1341 c.1282G>A c.(1282-1284)GTC>ATC p.V428I NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 437 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) AAGGAGTTGACGCCCATCATG 0.627 NA 15 102 0 0 0 0 MTG1 92170 broad.mit.edu 37 10 135233650 135233650 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr10:135233650C>T uc001lnd.2 + 11 1090 c.986C>T c.(985-987)CCG>CTG p.P329L MTG1_uc010qve.1_Missense_Mutation_p.P194L NM_138384 NP_612393 Q9BT17 MTG1_HUMAN GTP_binding protein precursor 329 mitochondrion GTP binding|protein binding skin(1) 1 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) GGCCACCCCCCGGCTGAGACT 0.652 NA 17 61 0 0 0 0 MUC2 4583 broad.mit.edu 37 11 1103265 1103265 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:1103265C>T uc001lsx.1 + 49 15128 c.15101C>T c.(15100-15102)TCG>TTG p.S5034L NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 5034 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAGCTCATCTCGTCCGTCTCC 0.592 NA 4 69 0 0 0 0 TAF10 6881 broad.mit.edu 37 11 6632981 6632981 + Missense_Mutation SNP T T C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:6632981T>C uc001mej.1 - 2 326 c.301A>G c.(301-303)AGC>GGC p.S101G NM_006284 NP_006275 Q12962 TAF10_HUMAN TBP-related factor 10 101 histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex estrogen receptor binding|RNA polymerase binding|transcription coactivator activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTGGCCGCGCTCGGCAGTACG 0.637 NA 3 15 0 0 0 0 OR10A3 26496 broad.mit.edu 37 11 7960482 7960482 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:7960482C>G uc010rbi.1 - 1 586 c.586G>C c.(586-588)GAA>CAA p.E196Q NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCATAGATTTCAAATAAGAAG 0.418 NA 9 75 0 0 0 0 HPS5 11234 broad.mit.edu 37 11 18318517 18318517 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:18318517G>C uc001mod.1 - 12 1616 c.1338C>G c.(1336-1338)ATC>ATG p.I446M HPS5_uc001moe.1_Missense_Mutation_p.I332M|HPS5_uc001mof.1_Missense_Mutation_p.I332M NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 446 cytosol ovary(1)|pancreas(1)|skin(1) 3 CAGAGTCCAAGATGCTGAAAC 0.343 NA Hermansky-Pudlak_syndrome 8 57 0 0 0 0 CCDC34 91057 broad.mit.edu 37 11 27362288 27362288 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:27362288G>A uc001mrh.1 - 5 916 c.862C>T c.(862-864)CGT>TGT p.R288C NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 288 0 GCAGCTGGACGAGGTTTATGT 0.348 NA 6 88 0 0 0 0 NUP160 23279 broad.mit.edu 37 11 47823375 47823375 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:47823375C>A uc001ngm.2 - 23 2968 c.2883G>T c.(2881-2883)CAG>CAT p.Q961H NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 961 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 TGTCATAATACTGCAGCCTGG 0.423 NA 7 43 0.00198382 0.00207973 1 0 FAM111A 63901 broad.mit.edu 37 11 58919457 58919457 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:58919457A>T uc010rkp.1 + 5 543 c.316A>T c.(316-318)ATG>TTG p.M106L FAM111A_uc010rkq.1_Missense_Mutation_p.M106L|FAM111A_uc010rkr.1_Missense_Mutation_p.M106L|FAM111A_uc001nno.2_Missense_Mutation_p.M106L|FAM111A_uc001nnp.2_Missense_Mutation_p.M106L|FAM111A_uc001nnq.2_Missense_Mutation_p.M106L NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 106 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) TAGCTTATATATGGCTCTCAA 0.403 NA 6 41 0 0 0 0 BSCL2 26580 broad.mit.edu 37 11 62458142 62458142 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:62458142C>T uc001nuo.1 - 10 1408 c.984G>A c.(982-984)GAG>GAA p.E328E LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Missense_Mutation_p.R281K|BSCL2_uc001nup.2_Silent_p.E328E|BSCL2_uc001nuq.1_Silent_p.E328E|BSCL2_uc001nur.3_Silent_p.E392E|BSCL2_uc009yod.2_Silent_p.E392E|BSCL2_uc001nut.3_Silent_p.E394E|HNRNPUL2_uc001nuu.1_RNA NM_032667 NP_116056 Q96G97 BSCL2_HUMAN seipin isoform 2 328 Cytoplasmic (Potential). cell death integral to endoplasmic reticulum membrane 0 GATCTGGTTTCTCCTCCTCGG 0.612 NA 5 119 0 0 0 0 PITPNM1 9600 broad.mit.edu 37 11 67262617 67262617 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:67262617G>A uc001olx.2 - 16 2751 c.2562C>T c.(2560-2562)GTC>GTT p.V854V PITPNM1_uc001olw.2_Silent_p.V136V|PITPNM1_uc001oly.2_Silent_p.V854V|PITPNM1_uc001olz.2_Silent_p.V853V NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 854 DDHD. brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 GGGGCAGCGTGACGGTGGGAA 0.667 NA 4 56 0 0 0 0 PDE2A 5138 broad.mit.edu 37 11 72292985 72292985 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:72292985G>A uc010rrc.1 - 22 2101 c.1858C>T c.(1858-1860)CTG>TTG p.L620L PDE2A_uc001oso.2_Silent_p.L599L|PDE2A_uc010rra.1_Silent_p.L613L|PDE2A_uc001osn.2_Silent_p.L364L|PDE2A_uc010rrb.1_Silent_p.L611L|PDE2A_uc010rrd.1_Silent_p.L505L NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 620 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AGCATGCTCAGGATGGCCTGG 0.577 NA 8 89 0 0 0 0 DLG2 1740 broad.mit.edu 37 11 83585526 83585526 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:83585526G>A uc001paj.2 - 11 1490 c.1187C>T c.(1186-1188)TCC>TTC p.S396F DLG2_uc001pai.2_Missense_Mutation_p.S293F|DLG2_uc010rsy.1_Missense_Mutation_p.S363F|DLG2_uc010rsz.1_Missense_Mutation_p.S396F|DLG2_uc010rta.1_Missense_Mutation_p.S396F|DLG2_uc001pak.2_Missense_Mutation_p.S501F|DLG2_uc010rtb.1_Missense_Mutation_p.S363F|DLG2_uc001pal.1_Missense_Mutation_p.S396F|DLG2_uc001pam.1_Missense_Mutation_p.S435F NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 396 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GCTATGTTGGGAATGACTGCA 0.318 NA 9 32 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92577460 92577460 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:92577460G>A uc001pdj.3 + 18 10944 c.10927G>A c.(10927-10929)GAG>AAG p.E3643K FAT3_uc001pdi.3_Missense_Mutation_p.E83K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3643 Cadherin 33.|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) GTTGGTGCATGAGATGCTGCA 0.562 NA TCGA Ovarian(4;0.039) 9 102 0 0 0 0 SPATA19 219938 broad.mit.edu 37 11 133712445 133712445 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:133712445G>A uc001qgv.1 - 5 423 c.372C>T c.(370-372)ATC>ATT p.I124I NM_174927 NP_777587 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 precursor 124 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane 0 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) GCACTTGGAAGATACGAGTGT 0.468 NA 5 61 0 0 0 0 WNK1 65125 broad.mit.edu 37 12 988982 988982 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:988982C>T uc001qio.3 + 11 3124 c.2617C>T c.(2617-2619)CTG>TTG p.L873L WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 873 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TACTCAGCCTCTGCTCACGTT 0.532 NA 18 76 0 0 0 0 CD163 9332 broad.mit.edu 37 12 7653982 7653982 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:7653982C>T uc001qsz.3 - 3 338 c.210G>A c.(208-210)GAG>GAA p.E70E CD163_uc001qta.3_Silent_p.E70E|CD163_uc009zfw.2_Silent_p.E70E NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 70 SRCR 1.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TTCCCCACTCCTCCTGGACTT 0.507 NA 10 60 0 0 0 0 A2ML1 144568 broad.mit.edu 37 12 9001323 9001323 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:9001323G>A uc001quz.3 + 16 1939 c.1841G>A c.(1840-1842)GGG>GAG p.G614E A2ML1_uc001qva.1_Missense_Mutation_p.G194E|A2ML1_uc010sgm.1_Missense_Mutation_p.G114E NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 458 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 CAGGTCTATGGGATGTTTCCA 0.473 NA 19 112 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716470 13716470 + Silent SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:13716470C>A uc001rbt.2 - 13 3881 c.3702G>T c.(3700-3702)TCG>TCT p.S1234S NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1234 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) CCTGCCTGCCCGAGTTCTGAC 0.617 NA 5 55 3.6e-05 3.93e-05 1 0 MGP 4256 broad.mit.edu 37 12 15035947 15035947 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:15035947G>A uc001rcn.1 - 3 232 c.129C>T c.(127-129)TTC>TTT p.F43F NM_000900 NP_000891 P08493 MGP_HUMAN matrix Gla protein precursor 43 cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone ovary(1) 1 GAGGGGATATGAAGGTATTTG 0.383 NA 7 60 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40643742 40643742 + Missense_Mutation SNP T T A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:40643742T>A uc001rmg.3 + 8 1074 c.953T>A c.(952-954)CTC>CAC p.L318H LRRK2_uc001rmh.1_5'Flank NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 318 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGTTTGGCCCTCCTCAGTAAG 0.423 NA 3 28 0 0 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967396 41967396 + Missense_Mutation SNP C C T rs144265671 TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:41967396C>T uc010skn.1 + 10 2286 c.2218C>T c.(2218-2220)CGC>TGC p.R740C PDZRN4_uc001rmq.3_Missense_Mutation_p.R681C|PDZRN4_uc009zjz.2_Missense_Mutation_p.R679C|PDZRN4_uc001rmr.2_Missense_Mutation_p.R566C NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 939 ubiquitin-protein ligase activity|zinc ion binding p.R681C(1) lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAAAATGGGGCGCTACTGGAG 0.542 NA 9 31 0 0 0 0 CACNB3 784 broad.mit.edu 37 12 49221458 49221458 + Missense_Mutation SNP C C T rs146819236 TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:49221458C>T uc001rsl.1 + 13 1432 c.1231C>T c.(1231-1233)CGC>TGC p.R411C CACNB3_uc010sly.1_Missense_Mutation_p.R398C|CACNB3_uc010slz.1_Missense_Mutation_p.R410C|CACNB3_uc001rsk.1_Missense_Mutation_p.R258C NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 411 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) CGAGAGCTCCCGCCAAGCCTG 0.647 NA 7 41 0 0 0 0 TROAP 10024 broad.mit.edu 37 12 49721061 49721061 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:49721061G>A uc001rtx.3 + 8 1006 c.839G>A c.(838-840)GGT>GAT p.G280D TROAP_uc009zlh.2_Missense_Mutation_p.G280D|TROAP_uc001rty.2_5'UTR NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 280 cell adhesion cytoplasm ovary(1) 1 GCCTCTCTTGGTCTGGCCCAG 0.512 NA 12 61 0 0 0 0 KRT73 319101 broad.mit.edu 37 12 53012018 53012018 + Silent SNP C C T rs142655706 byFrequency TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:53012018C>T uc001sas.2 - 1 326 c.291G>A c.(289-291)TCG>TCA p.S97S NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 97 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) GCGGGCACAACGACGGACACA 0.637 NA 12 111 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 70929923 70929923 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:70929923C>A uc001swb.3 - 27 5339 c.5309G>T c.(5308-5310)AGA>ATA p.R1770I uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.R1680I|PTPRB_uc010stp.1_Missense_Mutation_p.R1680I|PTPRB_uc001swc.3_Missense_Mutation_p.R1988I|PTPRB_uc001swa.3_Missense_Mutation_p.R1900I NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1770 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AATGTATTCTCTTCTGAAGTT 0.428 NA 3 23 2.56e-06 2.85e-06 1 0 TMEM132B 114795 broad.mit.edu 37 12 126128737 126128737 + Nonsense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr12:126128737G>A uc001uhe.1 + 6 1546 c.1538G>A c.(1537-1539)TGG>TAG p.W513* TMEM132B_uc001uhf.1_Nonsense_Mutation_p.W25* NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 513 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GTCACTGTCTGGGCACCCAGG 0.537 NA 5 44 0 0 0 0 KIAA0564 23078 broad.mit.edu 37 13 42295521 42295521 + Silent SNP T T A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr13:42295521T>A uc001uyj.2 - 25 3019 c.2949A>T c.(2947-2949)ATA>ATT p.I983I KIAA0564_uc001uyk.2_Silent_p.I983I NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 983 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) AATGTTTGACTATGTTGACAA 0.408 NA 8 125 0 0 0 0 PCDH20 64881 broad.mit.edu 37 13 61985826 61985826 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr13:61985826G>A uc001vid.3 - 2 2770 c.2406C>T c.(2404-2406)GGC>GGT p.G802G PCDH20_uc010thj.1_Silent_p.G802G NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 775 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AAGTAATGTTGCCAGTTTTAG 0.488 NA 13 58 0 0 0 0 OR11H6 122748 broad.mit.edu 37 14 20692714 20692714 + Silent SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr14:20692714A>T uc010tlc.1 + 1 846 c.846A>T c.(844-846)TCA>TCT p.S282S NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 282 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GCCCAACATCAGGGAACCCAG 0.448 NA 5 71 0 0 0 0 ASB2 51676 broad.mit.edu 37 14 94417436 94417436 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr14:94417436C>T uc001ycc.1 - 4 1134 c.645G>A c.(643-645)AAG>AAA p.K215K ASB2_uc001ycd.2_Silent_p.K263K|ASB2_uc001yce.1_Silent_p.K161K NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 215 ANK 5. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) TGGATTCCACCTTGGCTCCTC 0.607 NA 8 98 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28386662 28386662 + Silent SNP A A C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:28386662A>C uc001zbj.2 - 78 12037 c.11931T>G c.(11929-11931)ACT>ACG p.T3977T NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3977 RCC1 13. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTCACAGGGAGTGGGAACTT 0.537 NA 4 61 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31323321 31323321 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:31323321C>T uc001zfm.2 - 22 3054 c.2926G>A c.(2926-2928)GTG>ATG p.V976M TRPM1_uc010azy.2_Missense_Mutation_p.V883M|TRPM1_uc001zfl.2_Intron NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 976 Helical; (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTCATGAGCACGACCAGCATG 0.507 NA 13 62 0 0 0 0 THBS1 7057 broad.mit.edu 37 15 39874946 39874946 + Missense_Mutation SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:39874946A>G uc001zkh.2 + 3 799 c.620A>G c.(619-621)AAT>AGT p.N207S NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 207 TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GTCAATGACAATTTCCAGGTG 0.552 NA 3 30 0 0 0 0 C15orf63 25764 broad.mit.edu 37 15 44092849 44092849 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:44092849A>T uc001ztf.2 + 1 229 c.53A>T c.(52-54)GAG>GTG p.E18V ELL3_uc001zsx.1_5'Flank|C15orf63_uc001ztb.2_Missense_Mutation_p.E64V|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc001ztd.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztg.1_Missense_Mutation_p.E10V NM_016400 NP_057484 Q9NX55 HYPK_HUMAN chromosome 15 open reading frame 63 18 0 GTGGAGCTGGAGTTGGAGACT 0.632 NA 9 15 0 0 0 0 CGNL1 84952 broad.mit.edu 37 15 57734631 57734631 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:57734631G>C uc002aeg.2 + 4 1834 c.1758G>C c.(1756-1758)CAG>CAC p.Q586H CGNL1_uc010bfw.2_Missense_Mutation_p.Q586H NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 586 myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGAAAATCCAGACCTTAAAGT 0.408 NA 14 52 0 0 0 0 HEXA 3073 broad.mit.edu 37 15 72668095 72668095 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:72668095G>A uc002aun.3 - 1 426 c.219C>T c.(217-219)TTC>TTT p.F73F CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Silent_p.F73F|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Silent_p.F73F|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 73 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 ACCCGGAACCGAAAAGCAGGT 0.627 NA 24 161 0 0 0 0 CLK3 1198 broad.mit.edu 37 15 74919948 74919948 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:74919948C>A uc010uln.1 + 9 1886 c.1425C>A c.(1423-1425)GAC>GAA p.D475E CLK3_uc002ayg.3_Missense_Mutation_p.D327E|CLK3_uc002ayh.3_Missense_Mutation_p.D106E|CLK3_uc002ayj.3_Missense_Mutation_p.D304E|CLK3_uc002ayk.3_Missense_Mutation_p.D254E|CLK3_uc002ayl.3_Missense_Mutation_p.D160E NM_001130028 NP_001123500 P49761 CLK3_HUMAN CDC-like kinase 3 isoform a 475 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2) 2 CCACATTTGACCATGAGCACC 0.562 NA 33 110 9.18e-22 1.08e-21 1 0 BTBD1 53339 broad.mit.edu 37 15 83718833 83718833 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:83718833A>T uc002bjn.2 - 3 859 c.656T>A c.(655-657)ATT>AAT p.I219N BTBD1_uc002bjo.2_Missense_Mutation_p.I219N NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 isoform 1 219 cytoplasmic mRNA processing body|protein complex protein binding ovary(1)|central_nervous_system(1) 2 all cancers(203;0.000186) ACCTATATCAATATCAGTAAA 0.358 NA 6 45 0 0 0 0 C15orf42 90381 broad.mit.edu 37 15 90127621 90127621 + Missense_Mutation SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr15:90127621G>T uc002boe.2 + 3 1039 c.1039G>T c.(1039-1041)GCC>TCC p.A347S NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 347 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AGGCTCAGTGGCCCAGTGGTC 0.488 NA 16 56 1.15e-07 1.31e-07 1 0 PKD1 5310 broad.mit.edu 37 16 2166554 2166554 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr16:2166554G>A uc002cos.1 - 8 1907 c.1698C>T c.(1696-1698)CTC>CTT p.L566L PKD1_uc002cot.1_Silent_p.L566L NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 566 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GCGGGGCTGAGAGGCCGTCCT 0.711 NA 2 2 0 0 0 0 MMP2 4313 broad.mit.edu 37 16 55530841 55530841 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr16:55530841C>T uc002ehz.3 + 10 1787 c.1476C>T c.(1474-1476)TTC>TTT p.F492F MMP2_uc010vhd.1_Silent_p.F416F|MMP2_uc010ccc.2_Silent_p.F442F|MMP2_uc002eia.3_5'UTR NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 492 Required for inhibitor TIMP2 binding.|Hemopexin-like 1. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CTGCCAGGTTCATTTGGCGGA 0.592 NA 6 65 0 0 0 0 CDH5 1003 broad.mit.edu 37 16 66432402 66432402 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr16:66432402G>A uc002eom.3 + 10 1685 c.1529G>A c.(1528-1530)CGA>CAA p.R510Q NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 510 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) ATAACACCACGAAACGTGAAG 0.443 NA 3 43 0 0 0 0 GLG1 2734 broad.mit.edu 37 16 74537551 74537551 + Nonsense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr16:74537551G>A uc002fcy.3 - 4 702 c.652C>T c.(652-654)CAG>TAG p.Q218* GLG1_uc002fcx.2_Nonsense_Mutation_p.Q218*|GLG1_uc002fcw.3_Nonsense_Mutation_p.Q207*|GLG1_uc002fcz.3_5'UTR NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 218 Extracellular (Potential).|Cys-rich GLG1 3. Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 GTAATGTACTGGTGACACTGA 0.423 NA 21 104 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578177 7578177 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr17:7578177C>A uc002gim.2 - 6 866 c.672G>T c.(670-672)GAG>GAT p.E224D TP53_uc002gig.1_Missense_Mutation_p.E224D|TP53_uc002gih.2_Missense_Mutation_p.E224D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E92D|TP53_uc010cng.1_Missense_Mutation_p.E92D|TP53_uc002gii.1_Missense_Mutation_p.E92D|TP53_uc010cnh.1_Missense_Mutation_p.E224D|TP53_uc010cni.1_Missense_Mutation_p.E224D|TP53_uc002gij.2_Missense_Mutation_p.E224D|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.E131D|TP53_uc002gio.2_Missense_Mutation_p.E92D|TP53_uc010vug.1_Missense_Mutation_p.E185D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 224 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; 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.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(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) CAAACCAGACCTCAGGCGGCT 0.522 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 6 5.18e-06 5.74e-06 1 0 MYH1 4619 broad.mit.edu 37 17 10418213 10418213 + Splice_Site SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr17:10418213C>G uc002gmo.2 - 6 600 c.506_splice c.e6-1 p.D169_splice uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTCTCCCGATCTAGAAGAAAA 0.328 NA 3 80 0 0 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073141 34073141 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr17:34073141G>A uc002hjv.1 - 6 1403 c.1375C>T c.(1375-1377)CCT>TCT p.P459S NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 459 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAGGAACGAGGCAGGGGAGAT 0.632 NA 21 99 0 0 0 0 OR4D1 26689 broad.mit.edu 37 17 56233093 56233093 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr17:56233093C>T uc010wno.1 + 1 579 c.579C>T c.(577-579)TCC>TCT p.S193S MSX2P1_uc002ivn.2_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTGATACCTCCCTCCTGGAGT 0.493 NA 36 48 0 0 0 0 MIF4GD 57409 broad.mit.edu 37 17 73264171 73264171 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr17:73264171A>T uc002jnr.2 - 3 314 c.185T>A c.(184-186)ATC>AAC p.I62N MIF4GD_uc002jno.2_Missense_Mutation_p.I103N|MIF4GD_uc002jnp.2_Missense_Mutation_p.I96N|MIF4GD_uc002jnq.2_Missense_Mutation_p.I103N A9UHW6 MI4GD_HUMAN RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1; Short=hSLIP1; 62 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding ovary(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) AACCTGAATGATGGCGTAGCA 0.562 NA 6 42 0 0 0 0 DNAH17 8632 broad.mit.edu 37 17 76420210 76420210 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr17:76420210C>G uc010dhp.1 - 26 4388 c.4166G>C c.(4165-4167)GGA>GCA p.G1389A PGS1_uc002jvm.2_3'UTR|PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_3'UTR|PGS1_uc002jvo.2_RNA|DNAH17_uc002jvq.2_Missense_Mutation_p.G674A|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCGATGACTCCAGTCTGGGT 0.607 NA 7 34 0 0 0 0 CABLES1 91768 broad.mit.edu 37 18 20837210 20837210 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr18:20837210G>A uc002kuc.2 + 10 1781 c.1781G>A c.(1780-1782)CGG>CAG p.R594Q C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Missense_Mutation_p.R97Q|CABLES1_uc002kud.2_Missense_Mutation_p.R329Q NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 594 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1) 1 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) GAGAAGTTCCGGCTGAACAGG 0.448 NA 8 75 0 0 0 0 ATP9B 374868 broad.mit.edu 37 18 76873289 76873289 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr18:76873289A>T uc002lmx.2 + 4 507 c.493A>T c.(493-495)ATA>TTA p.I165L ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.I165L|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_5'UTR|ATP9B_uc002lmu.2_Missense_Mutation_p.I165L NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 165 Helical; (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TTTTCTAGTAATATCCTGCTC 0.294 NA 6 34 0 0 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456159 5456159 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:5456159G>A uc002mca.3 + 1 734 c.657G>A c.(655-657)TCG>TCA p.S219S NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 219 Extracellular (Potential).|PA. integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) AGGCCGCCTCGCAGGACCTGC 0.667 NA 11 77 0 0 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10225067 10225067 + Missense_Mutation SNP T T A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:10225067T>A uc002mna.2 + 13 2038 c.2038T>A c.(2038-2040)TCC>ACC p.S680T PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.S260T NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CTACGCCAGCTCCTATGTGCC 0.677 NA 10 78 0 0 0 0 ZNF69 7620 broad.mit.edu 37 19 12014459 12014459 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:12014459G>A uc002mst.3 + 2 162 c.93G>A c.(91-93)CAG>CAA p.Q31Q NM_021915 NP_068734 Q9UC07 ZNF69_HUMAN zinc finger protein 69 45 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung(535;0.011) ATATTTCCCAGAGGAAACTCT 0.478 NA 12 88 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038880 17038880 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:17038880G>A uc002nfb.2 - 25 3482 c.3450C>T c.(3448-3450)TTC>TTT p.F1150F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1103 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CCCCCAGGGTGAAGGCCTCGC 0.632 NA 6 57 0 0 0 0 HAPLN4 404037 broad.mit.edu 37 19 19371769 19371769 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:19371769G>A uc002nmb.2 - 3 392 c.337C>T c.(337-339)CGT>TGT p.R113C HAPLN4_uc002nmc.2_Missense_Mutation_p.R113C NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 113 Ig-like C2-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) GCCCGCCCACGGTAGCTGCCG 0.677 NA 3 57 0 0 0 0 ZNF30 90075 broad.mit.edu 37 19 35435405 35435405 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:35435405A>T uc010edp.1 + 5 1913 c.1535A>T c.(1534-1536)TAT>TTT p.Y512F ZNF30_uc002nxf.2_Missense_Mutation_p.Y431F|ZNF30_uc010edq.1_Missense_Mutation_p.Y513F|ZNF30_uc010edr.1_Missense_Mutation_p.Y513F NM_194325 NP_919306 P17039 ZNF30_HUMAN zinc finger protein 30 isoform b 512 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) AAGAAGCCCTATGAGTGTAAG 0.423 NA 4 27 0 0 0 0 DMKN 93099 broad.mit.edu 37 19 36003956 36003956 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:36003956G>A uc002nzm.3 - 1 605 c.422C>T c.(421-423)GCT>GTT p.A141V DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.A141V|DMKN_uc002nzn.3_Missense_Mutation_p.A141V|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.A141V|DMKN_uc010eeb.2_Missense_Mutation_p.A141V|DMKN_uc002oaa.3_Missense_Mutation_p.A141V|DMKN_uc002oab.3_Missense_Mutation_p.A141V NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN dermokine isoform 2 precursor 141 Gly-rich. extracellular region large_intestine(1)|ovary(1)|skin(1) 3 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACTCACCCAAGCACCATTGTG 0.582 NA 8 39 0 0 0 0 ZNF527 84503 broad.mit.edu 37 19 37879433 37879433 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:37879433G>C uc010efk.1 + 5 593 c.482G>C c.(481-483)AGA>ACA p.R161T ZNF527_uc002ogf.3_Missense_Mutation_p.R129T|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTGGGAAAAGAGACAATGAA 0.383 NA 4 83 0 0 0 0 CATSPERG 57828 broad.mit.edu 37 19 38849158 38849158 + Missense_Mutation SNP T T C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:38849158T>C uc002oih.3 + 13 1540 c.1453T>C c.(1453-1455)TAC>CAC p.Y485H CATSPERG_uc002oig.3_Missense_Mutation_p.Y445H|CATSPERG_uc002oif.3_Missense_Mutation_p.Y125H|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 485 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 CTGTAACCCGTACAACAATCT 0.562 NA 13 70 0 0 0 0 ZFP112 7771 broad.mit.edu 37 19 44832196 44832196 + Missense_Mutation SNP T T G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:44832196T>G uc010ejj.2 - 5 2245 c.2132A>C c.(2131-2133)CAT>CCT p.H711P ZFP112_uc002ozc.3_Missense_Mutation_p.H705P|ZFP112_uc010xwy.1_Missense_Mutation_p.H728P|ZFP112_uc010xwz.1_Missense_Mutation_p.H710P NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 711 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 GACACTCTGATGACTCTGAAG 0.458 NA 8 106 0 0 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998632 46998632 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:46998632C>T uc002pes.2 - 1 538 c.91G>A c.(91-93)GAG>AAG p.E31K uc002peu.1_3'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 31 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) tctgcctgctccaggccctcc 0.03 NA 27 56 0 0 0 0 DHX34 9704 broad.mit.edu 37 19 47856504 47856504 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:47856504C>G uc010xyn.1 + 2 558 c.217C>G c.(217-219)CTC>GTC p.L73V DHX34_uc010elc.1_Missense_Mutation_p.L73V NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 73 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) ATTCCAGAATCTCAAGACCTC 0.537 NA 4 111 0 0 0 0 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:53958826G>A uc010eqp.2 + 7 1523 c.1065G>A c.(1063-1065)AAG>AAA p.K355K ZNF761_uc010ydy.1_Silent_p.K301K|ZNF761_uc002qbt.1_Silent_p.K301K NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 355 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.418 NA 5 151 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57327205 57327205 + Missense_Mutation SNP T T G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:57327205T>G uc002qnu.2 - 7 2956 c.2605A>C c.(2605-2607)AAT>CAT p.N869H ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N840H|PEG3_uc002qnv.2_Missense_Mutation_p.N869H|PEG3_uc002qnw.2_Missense_Mutation_p.N745H|PEG3_uc002qnx.2_Missense_Mutation_p.N743H|PEG3_uc010etr.2_Missense_Mutation_p.N869H NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 869 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CGCTTATCATTAAGGTCTGAG 0.438 NA 9 76 0 0 0 0 ZNF749 388567 broad.mit.edu 37 19 57955191 57955191 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr19:57955191G>A uc002qoq.2 + 3 929 c.675G>A c.(673-675)GAG>GAA p.E225E ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 225 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GGCCTTATGAGTTCAGTGAAT 0.428 NA 13 56 0 0 0 0 RPS27A 6233 broad.mit.edu 37 2 55462059 55462059 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:55462059G>A uc010yow.1 + 5 479 c.282G>A c.(280-282)AAG>AAA p.K94K C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Silent_p.K94K|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA NM_001135592 NP_001129064 P62979 RS27A_HUMAN ubiquitin and ribosomal protein S27a precursor 94 Lys-rich (highly basic). activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome ovary(1) 1 ATAAGCACAAGAGAAAGAAGG 0.398 NA 12 17 0 0 0 0 USP34 9736 broad.mit.edu 37 2 61570972 61570972 + Silent SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:61570972A>G uc002sbe.2 - 16 2500 c.2478T>C c.(2476-2478)ATT>ATC p.I826I NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 826 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GTTCATGGTAAATGGAAGCTA 0.363 NA 17 94 0 0 0 0 CLEC4F 165530 broad.mit.edu 37 2 71036884 71036884 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:71036884C>T uc002shf.2 - 6 1722 c.1645G>A c.(1645-1647)GCC>ACC p.A549T CLEC4F_uc010yqv.1_Missense_Mutation_p.A549T NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 549 Extracellular (Potential).|C-type lectin. endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 TTGTTCTGGGCGGCGTTGAAT 0.557 NA 11 56 0 0 0 0 GCC2 9648 broad.mit.edu 37 2 109116150 109116150 + Missense_Mutation SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:109116150A>G uc002tec.2 + 22 5078 c.4924A>G c.(4924-4926)ATA>GTA p.I1642V GCC2_uc002ted.2_Missense_Mutation_p.I1541V NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1642 Mediates interaction with RAB9A.|GRIP. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 TCTTCCTGTTATAAATACGAT 0.443 NA 19 277 0 0 0 0 SMPD4 55627 broad.mit.edu 37 2 130911487 130911487 + Missense_Mutation SNP T T A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:130911487T>A uc002tqq.1 - 17 2318 c.1798A>T c.(1798-1800)ATC>TTC p.I600F SMPD4_uc002tqo.1_Missense_Mutation_p.I132F|SMPD4_uc002tqp.1_Missense_Mutation_p.I339F|SMPD4_uc010yzy.1_Missense_Mutation_p.I349F|SMPD4_uc010yzz.1_Missense_Mutation_p.I264F|SMPD4_uc002tqr.1_Missense_Mutation_p.I571F|SMPD4_uc002tqs.1_Missense_Mutation_p.I468F|SMPD4_uc002tqt.1_Missense_Mutation_p.I449F|SMPD4_uc010zaa.1_Missense_Mutation_p.I458F|SMPD4_uc010zab.1_Missense_Mutation_p.I498F|SMPD4_uc010zac.1_Missense_Mutation_p.I341F|SMPD4_uc010zad.1_Missense_Mutation_p.I236F NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 561 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) GCCTGTGTGATGAGCTGAGCG 0.642 NA 3 35 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152385794 152385794 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:152385794G>C uc010fnx.2 - 118 16753 c.16562C>G c.(16561-16563)TCC>TGC p.S5521C NEB_uc002txr.2_Missense_Mutation_p.S1944C|NEB_uc002txt.3_Missense_Mutation_p.S26C NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5521 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGTGCAGTTGGATTTATTTCT 0.393 NA 5 40 0 0 0 0 CYTIP 9595 broad.mit.edu 37 2 158272595 158272595 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:158272595C>T uc002tzj.1 - 8 746 c.674G>A c.(673-675)GGA>GAA p.G225E CYTIP_uc010zcl.1_Missense_Mutation_p.G119E NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 225 regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 AGGCAGGGGTCCAAACAAAGA 0.498 NA 11 41 0 0 0 0 PPIG 9360 broad.mit.edu 37 2 170492733 170492733 + Silent SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:170492733G>T uc002uez.2 + 13 1369 c.1149G>T c.(1147-1149)GGG>GGT p.G383G PPIG_uc010fpx.2_Silent_p.G368G|PPIG_uc010fpy.2_Silent_p.G376G|PPIG_uc002ufb.2_Silent_p.G383G|PPIG_uc002ufd.2_Silent_p.G380G NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 383 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) GGATCAAGGGGGATAAGTAAG 0.353 NA 12 74 4.37e-10 5.06e-10 1 0 TTN 7273 broad.mit.edu 37 2 179434069 179434069 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:179434069C>G uc010zfg.1 - 275 69310 c.69086G>C c.(69085-69087)AGA>ACA p.R23029T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16724T|TTN_uc010zfi.1_Missense_Mutation_p.R16657T|TTN_uc010zfj.1_Missense_Mutation_p.R16532T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23956 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) GTCCAGAACTCTCACAGTAAC 0.423 NA 12 161 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179664379 179664379 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:179664379G>A uc002und.2 - 6 974 c.749C>T c.(748-750)CCA>CTA p.P250L TTN_uc010zfg.1_Missense_Mutation_p.P250L|TTN_uc010zfh.1_Missense_Mutation_p.P250L|TTN_uc010zfi.1_Missense_Mutation_p.P250L|TTN_uc010zfj.1_Missense_Mutation_p.P250L|TTN_uc002unb.2_Missense_Mutation_p.P250L Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 250 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) TGTTTTATGTGGCAGCTGTTG 0.498 NA 19 47 0 0 0 0 HECW2 57520 broad.mit.edu 37 2 197105285 197105285 + Silent SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:197105285A>G uc002utm.1 - 21 3835 c.3652T>C c.(3652-3654)TTA>CTA p.L1218L HECW2_uc002utl.1_Silent_p.L862L NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1218 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CGGATAATTAACCTGTCCATA 0.308 NA 10 50 0 0 0 0 FAM117B 150864 broad.mit.edu 37 2 203621983 203621983 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:203621983G>A uc010zhx.1 + 6 1162 c.1152G>A c.(1150-1152)CAG>CAA p.Q384Q NM_173511 NP_775782 Q6P1L5 F117B_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 384 ovary(1) 1 CCCTTGTACAGAGAAGTAGCA 0.498 NA 4 50 0 0 0 0 UGT1A4 54657 broad.mit.edu 37 2 234627538 234627538 + Silent SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:234627538C>G uc002vux.2 + 1 101 c.72C>G c.(70-72)CCC>CCG p.P24P UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Silent_p.P24P NM_007120 NP_009051 P22310 UD14_HUMAN UDP glycosyltransferase 1 family, polypeptide A4 24 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831) GTGTCCAGCCCTGGGCTGAGA 0.657 NA 10 58 0 0 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463753 241463753 + Missense_Mutation SNP T T C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr2:241463753T>C uc002vyz.1 - 7 1343 c.1114A>G c.(1114-1116)ATG>GTG p.M372V ANKMY1_uc002vza.1_Missense_Mutation_p.M231V|ANKMY1_uc010fzd.1_Missense_Mutation_p.M461V|ANKMY1_uc002vzb.1_Missense_Mutation_p.M231V|ANKMY1_uc002vzc.1_Missense_Mutation_p.M231V|ANKMY1_uc002vzd.1_Missense_Mutation_p.M231V|ANKMY1_uc010fze.1_Missense_Mutation_p.M41V|ANKMY1_uc002vze.2_Missense_Mutation_p.M133V NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 372 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TTTGTGTCCATAAATGATGAT 0.463 NA 16 75 0 0 0 0 SLC23A2 9962 broad.mit.edu 37 20 4855261 4855261 + Silent SNP T T A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr20:4855261T>A uc002wlg.1 - 10 1281 c.906A>T c.(904-906)GGA>GGT p.G302G SLC23A2_uc010zqr.1_Silent_p.G187G|SLC23A2_uc002wlh.1_Silent_p.G302G|SLC23A2_uc002wli.2_Silent_p.G301G NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 302 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 ACGCAGTCCATCCTTTCTTGG 0.383 NA 7 131 0 0 0 0 ZNFX1 57169 broad.mit.edu 37 20 47888006 47888006 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr20:47888006G>A uc002xui.2 - 3 590 c.343C>T c.(343-345)CGC>TGC p.R115C NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 115 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGTGGTCTGCGGTTCCTACAG 0.557 NA 19 244 0 0 0 0 SALL4 57167 broad.mit.edu 37 20 50407919 50407919 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr20:50407919G>A uc002xwh.3 - 2 1204 c.1103C>T c.(1102-1104)GCG>GTG p.A368V SALL4_uc010gii.2_Missense_Mutation_p.A368V|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 368 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GACATCCACCGCGGAGATGTT 0.562 NA 8 56 0 0 0 0 BAGE2 85319 broad.mit.edu 37 21 11049619 11049619 + Silent SNP T T A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr21:11049619T>A uc002yit.1 - 4 490 c.282A>T c.(280-282)CGA>CGT p.R94R 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) GCATCTTCCTTCGCTATAATT 0.373 NA 7 205 0 0 0 0 GNB1L 54584 broad.mit.edu 37 22 19808242 19808242 + Nonsense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr22:19808242G>A uc002zqe.1 - 3 527 c.133C>T c.(133-135)CAG>TAG p.Q45* GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Nonsense_Mutation_p.Q45* NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 45 WD 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) AGGCCACTCTGAGACCTGTTT 0.642 NA 7 57 0 0 0 0 RFPL3 10738 broad.mit.edu 37 22 32756539 32756539 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr22:32756539G>A uc003amj.2 + 2 879 c.674G>A c.(673-675)CGC>CAC p.R225H RFPL3_uc010gwn.2_Missense_Mutation_p.R196H|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 225 B30.2/SPRY. zinc ion binding ovary(1) 1 GATGGAAGCCGCCTCTCTGCC 0.527 NA 15 71 0 0 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823566 38823566 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr22:38823566G>A uc003avs.1 - 2 669 c.572C>T c.(571-573)GCG>GTG p.A191V KCNJ4_uc003avt.1_Missense_Mutation_p.A191V NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 191 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) CGAAATGACCGCGTGGTGGCT 0.637 NA 4 30 0 0 0 0 THUMPD3 25917 broad.mit.edu 37 3 9426231 9426231 + Silent SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:9426231A>G uc003bro.3 + 10 1531 c.1383A>G c.(1381-1383)GTA>GTG p.V461V LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Silent_p.V461V NM_001114092 NP_001107564 Q9BV44 THUM3_HUMAN THUMP domain containing 3 461 methyltransferase activity|protein binding|RNA binding ovary(1) 1 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) TGCGACACGTATGGCGAAAGG 0.418 NA 34 108 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49690316 49690316 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:49690316G>A uc003cxe.3 + 5 3441 c.3327G>A c.(3325-3327)CTG>CTA p.L1109L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1109 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CGGAGGAGCTGAGGCAGGCGG 0.642 NA 13 91 0 0 0 0 MITF 4286 broad.mit.edu 37 3 70014334 70014334 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:70014334G>A uc003dnz.2 + 10 1614 c.1498G>A c.(1498-1500)GGA>AGA p.G500R MITF_uc011bgb.1_Missense_Mutation_p.G448R|MITF_uc003doa.2_Missense_Mutation_p.G499R|MITF_uc003dob.2_Missense_Mutation_p.G484R|MITF_uc003dod.2_Missense_Mutation_p.G475R|MITF_uc003doe.2_Missense_Mutation_p.G393R|MITF_uc003dof.2_Missense_Mutation_p.G399R NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 506 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) AGTGTCCCCCGGAGCTTCCAA 0.537 NA A melanoma Waardenburg syndrome type 2|Tietz syndrome 4 65 0 0 0 0 EPHA6 285220 broad.mit.edu 37 3 96706382 96706382 + Missense_Mutation SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:96706382A>G uc010how.1 + 3 702 c.659A>G c.(658-660)AAT>AGT p.N220S EPHA6_uc003drp.1_Missense_Mutation_p.N220S NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 125 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GAAACATTTAATCTGTTTTAT 0.398 NA 10 161 0 0 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377897 113377897 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:113377897C>T uc003eam.2 - 7 3043 c.2632G>A c.(2632-2634)GAG>AAG p.E878K KIAA2018_uc003eal.2_Missense_Mutation_p.E822K NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 878 Ser-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GATACAGACTCAGGTATTAAT 0.438 NA 40 95 0 0 0 0 TM4SF1 4071 broad.mit.edu 37 3 149089484 149089484 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:149089484G>A uc003exb.1 - 4 818 c.584C>T c.(583-585)TCT>TTT p.S195F TM4SF1_uc003exc.1_Missense_Mutation_p.S106F NM_014220 NP_055035 P30408 T4S1_HUMAN transmembrane 4 superfamily member 1 195 Cytoplasmic (Probable). integral to plasma membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTGTTGGTGAGAGCAGCAAAA 0.398 NA 29 130 0 0 0 0 TNIK 23043 broad.mit.edu 37 3 170928972 170928972 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:170928972C>G uc003fhh.2 - 4 584 c.239G>C c.(238-240)CGG>CCG p.R80P TNIK_uc003fhi.2_Missense_Mutation_p.R80P|TNIK_uc003fhj.2_Missense_Mutation_p.R80P|TNIK_uc003fhk.2_Missense_Mutation_p.R80P|TNIK_uc003fhl.2_Missense_Mutation_p.R80P|TNIK_uc003fhm.2_Missense_Mutation_p.R80P|TNIK_uc003fhn.2_Missense_Mutation_p.R80P|TNIK_uc003fho.2_Missense_Mutation_p.R80P NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 80 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AGCAATATTCCGGTGATGAGA 0.343 NA 15 76 0 0 0 0 KLHL24 54800 broad.mit.edu 37 3 183381346 183381346 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:183381346G>C uc003flv.2 + 4 1316 c.1021G>C c.(1021-1023)GAA>CAA p.E341Q KLHL24_uc003flw.2_Missense_Mutation_p.E341Q|KLHL24_uc003flx.2_Missense_Mutation_p.E341Q NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 341 Kelch 1. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TGTAACAGGAGAATGGAAGTC 0.413 NA 5 111 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166066 193166066 + Missense_Mutation SNP C C T rs144335118 TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr3:193166066C>T uc003ftd.2 - 18 2189 c.2081G>A c.(2080-2082)CGA>CAA p.R694Q ATP13A4_uc003fte.1_Missense_Mutation_p.R694Q|ATP13A4_uc011bsr.1_Missense_Mutation_p.R165Q|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 694 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTCCTTCAATCGATTCTCCAA 0.393 NA 13 108 0 0 0 0 FGFRL1 53834 broad.mit.edu 37 4 1017629 1017629 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:1017629C>T uc003gce.2 + 5 619 c.458C>T c.(457-459)TCC>TTC p.S153F FGFRL1_uc003gcf.2_Missense_Mutation_p.S153F|FGFRL1_uc003gcg.2_Missense_Mutation_p.S153F|FGFRL1_uc010ibo.2_Missense_Mutation_p.S153F NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 153 Extracellular (Potential).|Ig-like C2-type 2. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ACACAGCCCTCCAAGATGAGG 0.711 NA 4 8 0 0 0 0 HTT 3064 broad.mit.edu 37 4 3201579 3201579 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:3201579C>T uc011bvq.1 + 42 5640 c.5495C>T c.(5494-5496)CCG>CTG p.P1832L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1830 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ACCACCCACCCGGCCCTGGTG 0.587 NA 7 46 0 0 0 0 UGT2B15 7366 broad.mit.edu 37 4 69513072 69513072 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:69513072C>A uc011cal.1 - 6 1381 c.1343G>T c.(1342-1344)AGA>ATA p.R448I NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 448 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 ATGATGAATTCTTGATAATTT 0.383 NA 6 118 0.000157383 0.000169743 1 0 UGT2B11 10720 broad.mit.edu 37 4 70080064 70080064 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:70080064A>T uc003heh.2 - 1 386 c.377T>A c.(376-378)TTC>TAC p.F126Y uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 126 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 ATCTTTACAGAAGTTTCTAAA 0.333 NA 12 79 0 0 0 0 CCDC158 339965 broad.mit.edu 37 4 77276585 77276585 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:77276585C>A uc003hkb.3 - 14 2331 c.2178G>T c.(2176-2178)ATG>ATT p.M726I NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 726 Potential. skin(3)|ovary(2)|pancreas(1) 6 TTGCCACTTTCATAGCTGGAA 0.383 NA 31 110 1.81e-10 2.1e-10 1 0 PTPN13 5783 broad.mit.edu 37 4 87691069 87691069 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:87691069G>C uc003hpz.2 + 29 5117 c.4637G>C c.(4636-4638)GGA>GCA p.G1546A PTPN13_uc003hpy.2_Missense_Mutation_p.G1551A|PTPN13_uc003hqa.2_Missense_Mutation_p.G1527A|PTPN13_uc003hqb.2_Missense_Mutation_p.G1355A|PTPN13_uc003hqc.1_5'UTR NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1546 PDZ 3. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GCAGAAAGTGGAAAAATTGAT 0.408 NA 7 98 0 0 0 0 SPOCK3 50859 broad.mit.edu 37 4 167658711 167658711 + Missense_Mutation SNP T T A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:167658711T>A uc003iri.1 - 11 1189 c.1048A>T c.(1048-1050)ACA>TCA p.T350S SPOCK3_uc011cjp.1_Missense_Mutation_p.T307S|SPOCK3_uc011cjq.1_Missense_Mutation_p.T359S|SPOCK3_uc011cjr.1_Missense_Mutation_p.T230S|SPOCK3_uc003irj.1_Missense_Mutation_p.T347S|SPOCK3_uc011cjs.1_Missense_Mutation_p.T299S|SPOCK3_uc011cjt.1_Missense_Mutation_p.T258S|SPOCK3_uc011cju.1_Missense_Mutation_p.T243S|SPOCK3_uc011cjv.1_Missense_Mutation_p.T252S NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 350 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TGACATTGTGTTGGCTTGTAG 0.423 NA 32 109 0 0 0 0 GPM6A 2823 broad.mit.edu 37 4 176573064 176573064 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:176573064C>G uc003iuf.2 - 4 1266 c.462G>C c.(460-462)ATG>ATC p.M154I GPM6A_uc011ckj.1_Missense_Mutation_p.M147I|GPM6A_uc003iug.2_Missense_Mutation_p.M154I|GPM6A_uc003iuh.2_Missense_Mutation_p.M143I NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 154 Extracellular (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) GATTGAAGTACATGTAAACTG 0.458 NA 3 49 0 0 0 0 ASB5 140458 broad.mit.edu 37 4 177190237 177190237 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr4:177190237C>T uc003iuq.1 - 1 39 c.23G>A c.(22-24)CGG>CAG p.R8Q NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 8 intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) AGCAAACGGCCGATTTTCTTC 0.448 NA 8 53 0 0 0 0 SLC12A7 10723 broad.mit.edu 37 5 1057669 1057669 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:1057669C>A uc003jbu.2 - 22 3009 c.2943G>T c.(2941-2943)TGG>TGT p.W981C NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 981 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCTCCCTGGTCCAGGTCATCT 0.617 NA 11 204 1.59e-06 1.79e-06 1 0 DNAH5 1767 broad.mit.edu 37 5 13891111 13891111 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:13891111A>T uc003jfd.2 - 17 2593 c.2551T>A c.(2551-2553)TGT>AGT p.C851S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 851 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AACTCTTCACAGGTTAGTGGC 0.393 NA Kartagener_syndrome 10 152 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24492957 24492957 + Silent SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:24492957G>C uc003jgr.1 - 10 1925 c.1593C>G c.(1591-1593)GTC>GTG p.V531V CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 531 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGTTTGGATTGACAGCAGCTA 0.333 NA HNSCC(23;0.051) 7 197 0 0 0 0 NUP155 9631 broad.mit.edu 37 5 37331895 37331895 + Silent SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:37331895C>G uc003jku.1 - 14 1639 c.1521G>C c.(1519-1521)GGG>GGC p.G507G NUP155_uc003jkt.1_Silent_p.G448G|NUP155_uc010iuz.1_Silent_p.G507G NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 507 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACATAAGGCTCCCCTAAGAAA 0.343 NA 6 65 0 0 0 0 ACOT12 134526 broad.mit.edu 37 5 80667569 80667569 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:80667569C>A uc003khl.3 - 3 313 c.258G>T c.(256-258)GAG>GAT p.E86D RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.E86D NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 86 Acyl coenzyme A hydrolase 1. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TGCCTCTTACCTCCATGCTTG 0.398 NA 19 52 1.98e-07 2.25e-07 1 0 APC 324 broad.mit.edu 37 5 112174376 112174376 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:112174376C>A uc010jby.2 + 16 3465 c.3085C>A c.(3085-3087)CTT>ATT p.L1029I APC_uc011cvt.1_Missense_Mutation_p.L1011I|APC_uc003kpz.3_Missense_Mutation_p.L1029I|APC_uc003kpy.3_Missense_Mutation_p.L1029I|APC_uc010jbz.2_Missense_Mutation_p.L746I|APC_uc010jca.2_Missense_Mutation_p.L329I NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1029 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAATTATAGTCTTAAATATTC 0.363 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 5 65 0.00116845 0.00122806 1 0 IL13 3596 broad.mit.edu 37 5 131993989 131993989 + Silent SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:131993989G>T uc003kxj.1 + 1 125 c.111G>T c.(109-111)GTG>GTT p.V37V NM_002188 NP_002179 P35225 IL13_HUMAN interleukin 13 precursor 37 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity ovary(1)|skin(1) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGGCCCTGTGCCTCCCTCTA 0.592 NA 10 28 0.000442599 0.000471191 1 0 PCDHA6 56142 broad.mit.edu 37 5 140207691 140207691 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:140207691G>A uc003lho.2 + 1 42 c.15G>A c.(13-15)CCG>CCA p.P5P 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_Silent_p.P5P|PCDHA6_uc011dab.1_Silent_p.P5P NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 5 homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTTACCCCGGAGGATAGAT 0.478 NA 20 121 0 0 0 0 LARP1 23367 broad.mit.edu 37 5 154179273 154179273 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr5:154179273C>T uc003lvp.2 + 9 1929 c.1500C>T c.(1498-1500)CTC>CTT p.L500L LARP1_uc003lvo.2_Silent_p.L423L|LARP1_uc010jie.1_Silent_p.L295L NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 500 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCCAGCTTCTCAACTGCCCTG 0.502 NA 9 88 0 0 0 0 PRPH2 5961 broad.mit.edu 37 6 42689520 42689520 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr6:42689520G>A uc003osk.2 - 1 839 c.553C>T c.(553-555)CTG>TTG p.L185L NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 185 Lumenal (Potential). L -> P (in RP7; in combination with a null mutation of ROM1). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) GAAAAGTCCAGGTAGCGATTG 0.502 NA 24 141 0 0 0 0 AARS2 57505 broad.mit.edu 37 6 44279951 44279951 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr6:44279951C>T uc010jza.1 - 2 296 c.293G>A c.(292-294)GGC>GAC p.G98D SPATS1_uc003oxg.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 98 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ACGTCGGAAGCCTGCCATCTC 0.527 NA 13 56 0 0 0 0 DDX43 55510 broad.mit.edu 37 6 74104706 74104707 + Missense_Mutation DNP GC GC TA TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr6:74104706_74104707GC>TA uc003pgw.2 + 1 422_423 c.78_79GC>TA c.(76-81)GCGCCA>GCTACA p.P27T OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 27 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 TGTCCCGAGCGCCAGAGAGGAG 0.644 NA 13 73 0 0 0 0 GOPC 57120 broad.mit.edu 37 6 117896462 117896462 + Silent SNP T T C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr6:117896462T>C uc003pxu.2 - 4 758 c.528A>G c.(526-528)GAA>GAG p.E176E GOPC_uc003pxq.1_5'Flank|GOPC_uc003pxv.2_Silent_p.E168E NM_020399 NP_065132 Q9HD26 GOPC_HUMAN golgi associated PDZ and coiled-coil motif 176 Potential. apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle cystic fibrosis transmembrane conductance regulator binding ovary(1) 1 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TCACTTCAGCTTCAAGTTGTG 0.348 NA O ROS1 glioblastoma 6 34 0 0 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123124975 123124975 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr6:123124975G>C uc003pzg.2 + 5 1256 c.735G>C c.(733-735)GAG>GAC p.E245D SMPDL3A_uc003pzh.2_Missense_Mutation_p.E114D NM_006714 NP_006705 Q92484 ASM3A_HUMAN acid sphingomyelinase-like phosphodiesterase 3A 245 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity 0 GBM - Glioblastoma multiforme(226;0.236) AGAATAAGGAGAAGGTAGATC 0.393 NA 15 74 0 0 0 0 AMZ1 155185 broad.mit.edu 37 7 2740214 2740214 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr7:2740214C>A uc003smr.1 + 2 490 c.129C>A c.(127-129)TTC>TTA p.F43L AMZ1_uc003sms.1_Missense_Mutation_p.F43L|AMZ1_uc011jwa.1_5'Flank NM_133463 NP_597720 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 43 metallopeptidase activity|zinc ion binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) AGCGGCTCTTCCTGGCCGAGG 0.672 NA 16 182 1.03e-11 1.2e-11 1 0 DGKB 1607 broad.mit.edu 37 7 14378214 14378214 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr7:14378214C>T uc003ssz.2 - 22 2238 c.2051G>A c.(2050-2052)CGA>CAA p.R684Q DGKB_uc011jxt.1_Missense_Mutation_p.R665Q|DGKB_uc003sta.2_Missense_Mutation_p.R684Q|DGKB_uc011jxu.1_Missense_Mutation_p.R683Q NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 684 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) CTCTATTCGTCGATGGCTTCG 0.393 NA 4 89 0 0 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22202079 22202079 + Missense_Mutation SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr7:22202079G>T uc003svg.2 - 13 1218 c.905C>A c.(904-906)TCC>TAC p.S302Y RAPGEF5_uc011jyl.1_5'UTR NM_012294 NP_036426 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 152 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity ovary(1) 1 AATCCACTGGGAAACAAGATG 0.368 NA 4 63 2.56e-06 2.85e-06 1 0 TYW1B 441250 broad.mit.edu 37 7 72159743 72159743 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr7:72159743G>A uc011kej.1 - 14 1599 c.1440C>T c.(1438-1440)ATC>ATT p.I480I TYW1B_uc011keh.1_Silent_p.I318I|TYW1B_uc011kei.1_Silent_p.I106I NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 480 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 GTGGGCGGTCGATTTTCTTCA 0.388 NA 8 68 0 0 0 0 PEX1 5189 broad.mit.edu 37 7 92138667 92138667 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr7:92138667G>A uc003uly.2 - 9 1742 c.1646C>T c.(1645-1647)CCT>CTT p.P549L PEX1_uc011khr.1_Missense_Mutation_p.P341L|PEX1_uc010ley.2_Missense_Mutation_p.P549L|PEX1_uc011khs.1_Missense_Mutation_p.P227L|PEX1_uc011kht.1_Intron NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 549 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CTTTAAAAAAGGAAGAATAAA 0.333 NA 9 45 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100684155 100684155 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr7:100684155G>A uc003uxp.1 + 3 9511 c.9458G>A c.(9457-9459)AGC>AAC p.S3153N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3153 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|51. 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) GAAGGTACCAGCATGCCAACC 0.478 NA 108 208 0 0 0 0 KCND2 3751 broad.mit.edu 37 7 120385968 120385968 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr7:120385968C>G uc003vjj.1 + 5 2567 c.1602C>G c.(1600-1602)CAC>CAG p.H534Q NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 534 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CACGACGACACAAAAAAACTT 0.448 NA 7 55 0 0 0 0 RP1L1 94137 broad.mit.edu 37 8 10469745 10469745 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:10469745C>T uc003wtc.2 - 4 2092 c.1863G>A c.(1861-1863)TCG>TCA p.S621S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 621 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGCTCCTTCCGAGTCCCAGG 0.647 NA 5 64 0 0 0 0 ADAM7 8756 broad.mit.edu 37 8 24324479 24324479 + Missense_Mutation SNP C C G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:24324479C>G uc003xeb.2 + 6 670 c.557C>G c.(556-558)TCT>TGT p.S186C ADAM7_uc003xea.1_Missense_Mutation_p.S186C NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 186 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GATAATGAATCTGAAGAAGAC 0.348 NA 12 84 0 0 0 0 STAR 6770 broad.mit.edu 37 8 38003513 38003513 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:38003513G>A uc003xkv.1 - 6 828 c.564C>T c.(562-564)TTC>TTT p.F188F STAR_uc010lwc.1_Silent_p.F168F NM_001007243 NP_001007244 P49675 STAR_HUMAN steroidogenic acute regulatory protein isoform 206 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) GCATGTTCCCGAAGTCTGTGG 0.617 NA 6 128 0 0 0 0 ADAM2 2515 broad.mit.edu 37 8 39626980 39626980 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:39626980G>C uc003xnj.2 - 12 1218 c.1143C>G c.(1141-1143)TTC>TTG p.F381L ADAM2_uc003xnk.2_Missense_Mutation_p.F362L|ADAM2_uc011lck.1_Missense_Mutation_p.F381L|ADAM2_uc003xnl.2_Missense_Mutation_p.F255L NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 381 Extracellular (Potential). cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTGCTGTTTGAAAAAAGGAT 0.443 NA 3 52 0 0 0 0 HOOK3 84376 broad.mit.edu 37 8 42821703 42821703 + Silent SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:42821703G>C uc003xpr.2 + 10 1109 c.867G>C c.(865-867)CTG>CTC p.L289L HOOK3_uc010lxq.1_Silent_p.L289L NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 289 Potential. 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) ATGATGAACTGACCACTTTGG 0.448 NA T RET papillary thyroid 4 89 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48801649 48801649 + Silent SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:48801649C>A uc003xqi.2 - 34 4263 c.4206G>T c.(4204-4206)CTG>CTT p.L1402L PRKDC_uc003xqj.2_Silent_p.L1402L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1402 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GAGCTTTCATCAGATTCACAC 0.483 NA NHEJ 6 60 0.00116845 0.00122806 1 0 MCM4 4173 broad.mit.edu 37 8 48882491 48882491 + Silent SNP A A C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:48882491A>C uc003xqk.1 + 11 1403 c.1308A>C c.(1306-1308)GCA>GCC p.A436A MCM4_uc003xql.1_Silent_p.A436A|MCM4_uc011ldi.1_Silent_p.A423A NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 436 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ATGAAGAAGCAGAACAGAAAC 0.423 NA 29 115 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55541982 55541982 + Missense_Mutation SNP T T C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:55541982T>C uc003xsd.1 + 4 5688 c.5540T>C c.(5539-5541)ATA>ACA p.I1847T RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1847 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGGAAAGAATAGCAAATCAT 0.408 NA 18 43 0 0 0 0 MATN2 4147 broad.mit.edu 37 8 99006720 99006720 + Missense_Mutation SNP G G T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:99006720G>T uc003yic.2 + 7 1325 c.1094G>T c.(1093-1095)TGT>TTT p.C365F MATN2_uc003yib.1_Missense_Mutation_p.C365F|MATN2_uc010mbh.1_Intron|MATN2_uc003yid.2_Missense_Mutation_p.C365F|MATN2_uc003yie.1_Missense_Mutation_p.C365F|MATN2_uc010mbi.1_Missense_Mutation_p.C198F NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 365 EGF-like 4. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) ATAGACTACTGTGCCTCATCT 0.423 NA 45 157 1.02e-35 1.2e-35 1 0 COL14A1 7373 broad.mit.edu 37 8 121216036 121216036 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:121216036G>A uc003yox.2 + 9 1231 c.966G>A c.(964-966)CTG>CTA p.L322L COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_5'UTR NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 322 VWFA 1. 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) AATTCGATCTGATGCACACAG 0.483 NA 4 42 0 0 0 0 ZNF623 9831 broad.mit.edu 37 8 144732947 144732947 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:144732947A>T uc003yzd.2 + 1 994 c.905A>T c.(904-906)CAT>CTT p.H302L ZNF623_uc011lkp.1_Missense_Mutation_p.H262L|ZNF623_uc003yzc.2_Missense_Mutation_p.H262L NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 302 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCATTCCGTCATCGCTCAGAC 0.453 NA 13 47 0 0 0 0 CPSF1 29894 broad.mit.edu 37 8 145621932 145621932 + Nonsense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr8:145621932C>A uc003zcj.2 - 25 2782 c.2707G>T c.(2707-2709)GAG>TAG p.E903* NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 903 Nuclear localization signal (Potential). mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GGCTTCTTCTCACGGAAGTTG 0.642 NA 33 99 8.16e-20 9.55e-20 1 0 ELAVL2 1993 broad.mit.edu 37 9 23731115 23731115 + Missense_Mutation SNP A A T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr9:23731115A>T uc003zpu.2 - 3 513 c.238T>A c.(238-240)TTG>ATG p.L80M ELAVL2_uc003zps.2_Missense_Mutation_p.L80M|ELAVL2_uc003zpt.2_Missense_Mutation_p.L80M|ELAVL2_uc003zpv.2_Missense_Mutation_p.L80M|ELAVL2_uc003zpw.2_Missense_Mutation_p.L80M NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 80 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CCATATCCCAAGCTCTGCCCT 0.383 NA 8 18 0 0 0 0 FRMPD1 22844 broad.mit.edu 37 9 37735705 37735705 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr9:37735705G>A uc004aag.1 + 13 1419 c.1375G>A c.(1375-1377)GTC>ATC p.V459I FRMPD1_uc004aah.1_Missense_Mutation_p.V459I|FRMPD1_uc011lqm.1_Missense_Mutation_p.V281I|FRMPD1_uc011lqn.1_Missense_Mutation_p.V328I NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 459 FERM. cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) AGTGAGCGTCGTCAAAGTGTA 0.453 NA 7 29 0 0 0 0 KIAA0368 23392 broad.mit.edu 37 9 114173379 114173379 + Missense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr9:114173379G>A uc004bfe.1 - 23 2792 c.2792C>T c.(2791-2793)ACG>ATG p.T931M NM_001080398 NP_001073867 KIAA0368 protein 0 CCTTCCCACCGTGAATCCCAA 0.438 NA 5 196 0 0 0 0 AMBP 259 broad.mit.edu 37 9 116823281 116823281 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr9:116823281G>A uc004bie.3 - 9 1214 c.951C>T c.(949-951)TAC>TAT p.Y317Y AMBP_uc011lxk.1_3'UTR NM_001633 NP_001624 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin preproprotein 317 BPTI/Kunitz inhibitor 2. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity skin(1) 1 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) GGCAGCCCCCGTAGGGGAAGA 0.622 NA 6 105 0 0 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29417365 29417365 + Missense_Mutation SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chrX:29417365A>G uc004dby.2 + 5 1151 c.643A>G c.(643-645)ACC>GCC p.T215A NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 215 Ig-like C2-type 2.|Extracellular (Potential). 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 TGGAAATTATACCTGTGAATT 0.343 NA 8 28 0 0 0 0 FAM47A 158724 broad.mit.edu 37 X 34148157 34148157 + Missense_Mutation SNP C C A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chrX:34148157C>A uc004ddg.2 - 1 2272 c.2239G>T c.(2239-2241)GGC>TGC p.G747C NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 747 ovary(4)|central_nervous_system(1) 5 ATTTCATAGCCCTTGCTTAGA 0.408 NA 14 68 4.38e-07 4.95e-07 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011054 105011054 + Silent SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chrX:105011054C>T uc004elz.1 + 11 2217 c.1461C>T c.(1459-1461)TTC>TTT p.F487F NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 487 Cytoplasmic (Potential).|TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GGAGTATTTTCGAACTGGAAA 0.388 NA 10 41 0 0 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450642 105450642 + Nonsense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chrX:105450642G>A uc004emf.1 + 4 1866 c.1217G>A c.(1216-1218)TGG>TAG p.W406* MUM1L1_uc004emg.1_Nonsense_Mutation_p.W406* NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 406 PWWP. ovary(2)|pancreas(1)|skin(1) 4 TATCCATTTTGGCCAGCAGTG 0.368 NA 4 4 0 0 0 0 DOCK11 139818 broad.mit.edu 37 X 117775257 117775257 + Nonsense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chrX:117775257C>T uc004eqp.2 + 39 4312 c.4249C>T c.(4249-4251)CAG>TAG p.Q1417* DOCK11_uc004eqq.2_Nonsense_Mutation_p.Q1196* NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1417 blood coagulation cytosol GTP binding ovary(3) 3 ATTTTTCACTCAGTGCTTCAA 0.323 NA 6 36 0 0 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421749 134421749 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chrX:134421749C>T uc004eyp.2 - 7 3508 c.853G>A c.(853-855)GAT>AAT p.D285N ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.D64N|ZNF75D_uc004eyo.2_Missense_Mutation_p.D190N NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 285 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATAGGATGATCATTTCCAGTG 0.363 NA 4 38 0 0 0 0 GBP3 2635 broad.mit.edu 37 1 89476691 89476693 + In_Frame_Del DEL CTT CTT - TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr1:89476691_89476693delCTT uc001dmt.2 - 8 1461_1463 c.1256_1258delAAG c.(1255-1260)GAAGTG>GTG p.E419del GBP3_uc010oss.1_In_Frame_Del_p.E340del|GBP3_uc001dmu.2_In_Frame_Del_p.E285del|GBP3_uc001dmv.2_Intron NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 419 integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) CCCGCCTTCACTTCTTCTTCTAG 0.419 NA 33 223 --- --- --- --- NA NA NA NA OR4S2 219431 broad.mit.edu 37 11 55418983 55419001 + Frame_Shift_Del DEL GGTACCATTGCTCTGGGGA GGTACCATTGCTCTGGGGA - rs139625934 byFrequency TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr11:55418983_55419001delGGTACCATTGCTCTGGGGA uc001nhs.1 + 1 604_622 c.604_622delGGTACCATTGCTCTGGGGA c.(604-624)GGTACCATTGCTCTGGGGAGTfs p.G202fs NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 202_208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) AGCCAACAGTGGTACCATTGCTCTGGGGAGTTTTGTTAT 0.475 NA 18 127 --- --- --- --- NA NA NA NA SMG1 23049 broad.mit.edu 37 16 18840818 18840819 + Frame_Shift_Del DEL TT TT - TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr16:18840818_18840819delTT uc002dfm.2 - 54 9755_9756 c.9392_9393delAA c.(9391-9393)AAAfs p.K3131fs SMG1_uc010bwb.2_Frame_Shift_Del_p.K2991fs|SMG1_uc010bwa.2_Frame_Shift_Del_p.K1862fs NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3131 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CAACAGAAACTTTGCTTTCGGC 0.465 NA 10 49 --- --- --- --- NA NA NA NA SUN1 23353 broad.mit.edu 37 7 883110 883110 + Frame_Shift_Del DEL C C - TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0 6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2 g.chr7:883110delC uc011jvp.1 + 6 690 c.611delC c.(610-612)GCCfs p.A204fs SUN1_uc010ksa.1_Frame_Shift_Del_p.A225fs|SUN1_uc003sje.1_Frame_Shift_Del_p.A204fs|SUN1_uc003sjf.2_Frame_Shift_Del_p.A154fs|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Frame_Shift_Del_p.A15fs NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 204 Nuclear. A -> P (in Ref. 5; AAH13613). cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 CACCCCGCGGCCCCCGGGCCC 0.557 NA 81 263 --- --- --- --- NA NA NA NA