Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut UBE4B 10277 broad.mit.edu 37 1 10207112 10207112 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:10207112A>T uc001aqs.3 + 19 3268 c.2555A>T c.(2554-2556)CAG>CTG p.Q852L UBE4B_uc001aqr.3_Missense_Mutation_p.Q723L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.Q307L|UBE4B_uc001aqt.1_Missense_Mutation_p.Q192L NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 852 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CTTCTCATTCAGCTGCTGCTC 0.527 NA 40 103 0 0 0.006999 0 0 KIF1B 23095 broad.mit.edu 37 1 10355764 10355764 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:10355764G>T uc001aqx.3 + 19 1919 c.1717G>T c.(1717-1719)GGG>TGG p.G573W KIF1B_uc001aqv.3_Missense_Mutation_p.G527W|KIF1B_uc001aqw.3_Missense_Mutation_p.G527W|KIF1B_uc001aqy.2_Missense_Mutation_p.G547W|KIF1B_uc001aqz.2_Missense_Mutation_p.G573W|KIF1B_uc001ara.2_Missense_Mutation_p.G533W|KIF1B_uc001arb.2_Missense_Mutation_p.G559W NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 573 FHA. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGTGCTGAGCGGGGCTCACAT 0.507 NA 13 61 0.000308642 0.000346293 0.003163 1 0 CASP9 842 broad.mit.edu 37 1 15844850 15844850 + Missense_Mutation SNP A A C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:15844850A>C uc001awn.2 - 2 268 c.173T>G c.(172-174)CTG>CGG p.L58R CASP9_uc001awm.1_Missense_Mutation_p.L58R|CASP9_uc001awo.2_Missense_Mutation_p.L58R|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 58 CARD. activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) ATCTATGATCAGCTGCCTGGC 0.517 NA 15 55 0 0 0.004007 0 0 ESPNP 284729 broad.mit.edu 37 1 17023377 17023377 + Nonsense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:17023377G>T uc001azn.1 - 9 1571 c.1457C>A c.(1456-1458)TCG>TAG p.S486* NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 CAGTAGCTCCGAGTTGTCGCC 0.617 NA 8 16 5.18039e-06 6.31954e-06 0.00308 1 0 NBL1 4681 broad.mit.edu 37 1 19983389 19983389 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:19983389G>A uc001bck.1 + 4 465 c.310G>A c.(310-312)GTG>ATG p.V104M NBL1_uc009vpl.1_Missense_Mutation_p.V105M|NBL1_uc001bcj.1_Missense_Mutation_p.V140M|NBL1_uc009vpm.1_Missense_Mutation_p.V105M NM_005380 NP_005371 P41271 NBL1_HUMAN neuroblastoma, suppression of tumorigenicity 1 2 104 CTCK. extracellular region ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCACGAGGAGGTGCCCAGGGT 0.642 NA 8 16 0 0 0.00308 0 0 RAB42 115273 broad.mit.edu 37 1 28920492 28920492 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:28920492G>A uc001bqu.2 + 2 487 c.181G>A c.(181-183)GCT>ACT p.A61T RAB42_uc001bqv.2_Missense_Mutation_p.A61T NM_152304 NP_689517 Q8N4Z0 RAB42_HUMAN RAB42, member RAS oncogene family 61 small GTPase mediated signal transduction membrane GTP binding 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649) TGACACCCTCGCTGATGCTAT 0.617 NA 8 23 0 0 0.004482 0 0 CSMD2 114784 broad.mit.edu 37 1 34033332 34033332 + Missense_Mutation SNP G G T rs140959425 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:34033332G>T uc001bxn.1 - 54 8201 c.8172C>A c.(8170-8172)AAC>AAA p.N2724K CSMD2_uc001bxm.1_Missense_Mutation_p.N2747K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2724 Sushi 18.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGATGTGTCCGTTGACAATGG 0.547 NA 7 14 3.09899e-07 4.00405e-07 0.004482 1 0 SFPQ 6421 broad.mit.edu 37 1 35652807 35652807 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:35652807C>A uc001bys.2 - 8 1954 c.1861G>T c.(1861-1863)GGA>TGA p.G621* SFPQ_uc001byr.2_RNA NM_005066 NP_005057 P23246 SFPQ_HUMAN splicing factor proline/glutamine rich 621 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|protein binding|RNA binding SFPQ/TFE3(6) kidney(4)|soft_tissue(2)|ovary(1)|skin(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CACTTACCTCCCATGTTCATT 0.403 NA T TFE3 papillary renal cell 10 149 0.00829132 0.00880795 0.008291 1 0 RLF 6018 broad.mit.edu 37 1 40701600 40701600 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:40701600G>A uc001cfc.3 + 8 1257 c.1226G>A c.(1225-1227)AGA>AAA p.R409K RLF_uc001cfd.3_Missense_Mutation_p.R100K NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 409 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TTAGAAGTTAGACGAGCCTGT 0.353 NA 11 74 0 0 0.008291 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40758147 40758147 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:40758147C>T uc001cfg.2 + 10 1445 c.1234C>T c.(1234-1236)CGC>TGC p.R412C NM_005857 NP_005848 O75844 FACE1_HUMAN zinc metallopeptidase STE24 412 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity 0 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) AGTCCTAAGCCGCAGATTTGA 0.383 NA 14 137 0 0 0.00499 0 0 TM2D1 83941 broad.mit.edu 37 1 62175007 62175007 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:62175007C>T uc001czz.1 - 3 644 c.341G>A c.(340-342)CGA>CAA p.R114Q NM_032027 NP_114416 Q9BX74 TM2D1_HUMAN beta-amyloid binding protein precursor 114 apoptosis ovary(1) 1 TTACACATTTCGGCAAGATAT 0.363 NA 5 38 0 0 0.001168 0 0 C1orf141 400757 broad.mit.edu 37 1 67559010 67559010 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:67559010T>A uc001ddl.1 - 7 992 c.881A>T c.(880-882)GAT>GTT p.D294V C1orf141_uc001ddm.1_Missense_Mutation_p.D294V|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 294 ovary(1) 1 TAGTTTATCATCTACAGTTGT 0.333 NA 29 29 0 0 0.00632 0 0 IL23R 149233 broad.mit.edu 37 1 67724401 67724401 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:67724401G>A uc001ddo.2 + 11 1565 c.1480G>A c.(1480-1482)GAG>AAG p.E494K IL23R_uc009waz.2_Missense_Mutation_p.E291K|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.E92K|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.E76K|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.E240K|IL23R_uc010opn.1_Missense_Mutation_p.E339K|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Missense_Mutation_p.E291K|IL23R_uc010opt.1_Missense_Mutation_p.E135K|IL23R_uc010opu.1_Missense_Mutation_p.E190K|IL23R_uc010opv.1_Missense_Mutation_p.E252K|IL23R_uc010opw.1_Missense_Mutation_p.E129K|IL23R_uc010opx.1_Missense_Mutation_p.E135K|IL23R_uc010opy.1_Missense_Mutation_p.E261K|IL23R_uc010opz.1_Missense_Mutation_p.E135K|IL23R_uc010oqa.1_Missense_Mutation_p.E135K|IL23R_uc010oqb.1_Missense_Mutation_p.E323K|IL23R_uc010oqc.1_Missense_Mutation_p.E210K|IL23R_uc010oqd.1_Missense_Mutation_p.E129K|IL23R_uc010oqe.1_Missense_Mutation_p.E92K|IL23R_uc010oqf.1_Missense_Mutation_p.E92K|IL23R_uc010oqg.1_Missense_Mutation_p.E92K|IL23R_uc010oqh.1_Missense_Mutation_p.E135K|IL23R_uc001dds.2_Missense_Mutation_p.E239K|IL23R_uc001ddt.2_Missense_Mutation_p.E92K NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 494 Cytoplasmic (Potential). inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 TTTTCTGCCTGAGGGAAGCCA 0.373 NA 30 33 0 0 0.009535 0 0 C1orf173 127254 broad.mit.edu 37 1 75102097 75102097 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:75102097G>C uc001dgg.2 - 6 689 c.470C>G c.(469-471)CCA>CGA p.P157R C1orf173_uc001dgi.3_5'Flank NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 157 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CATATTTCCTGGAGCAGTATA 0.398 NA 12 196 0 0 0.00245 0 0 USP33 23032 broad.mit.edu 37 1 78189129 78189129 + Splice_Site SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:78189129C>A uc001dht.2 - 13 1717 c.1370_splice c.e13-1 p.A457_splice USP33_uc001dhs.2_Splice_Site_p.A178_splice|USP33_uc001dhu.2_Splice_Site_p.A426_splice|USP33_uc001dhv.2_Splice_Site_p.A262_splice|USP33_uc001dhw.2_Splice_Site_p.A457_splice NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 GCAGACTGAGCTAGGATTGAA 0.318 Melanoma(152;72 1870 11110 26780 42647) NA 4 24 0.00024832 0.000280413 0.009096 1 0 TTLL7 79739 broad.mit.edu 37 1 84417625 84417625 + Silent SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:84417625T>A uc001djc.2 - 3 456 c.60A>T c.(58-60)ACA>ACT p.T20T TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 20 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) AAGGTAATTCTGTATTCAAAT 0.333 NA 17 55 0 0 0.006122 0 0 LRRC8C 84230 broad.mit.edu 37 1 90178352 90178352 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:90178352G>T uc001dnl.3 + 3 465 c.223G>T c.(223-225)GTT>TTT p.V75F NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 75 endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CTCTCAAGCAGTTGCCAGTAC 0.478 NA 32 47 7.11191e-15 1.08779e-14 0.013726 1 0 LRRC8D 55144 broad.mit.edu 37 1 90399291 90399291 + Nonsense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:90399291G>T uc001dnm.2 + 3 1089 c.664G>T c.(664-666)GAG>TAG p.E222* LRRC8D_uc001dnn.2_Nonsense_Mutation_p.E222* NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 222 integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) CGAAGACTCAGAGGAAAACAA 0.443 NA 33 50 8.4185e-14 1.26822e-13 0.012213 1 0 DPYD 1806 broad.mit.edu 37 1 98058934 98058934 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:98058934G>T uc001drv.2 - 10 1105 c.968C>A c.(967-969)GCC>GAC p.A323D NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 323 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGAGTGACAGGCGCACATTCC 0.453 NA 15 54 1.05317e-09 1.47825e-09 0.00245 1 0 COL11A1 1301 broad.mit.edu 37 1 103573670 103573670 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:103573670A>T uc001dul.2 - 1 383 c.65T>A c.(64-66)CTC>CAC p.L22H COL11A1_uc001dum.2_Missense_Mutation_p.L22H|COL11A1_uc001dun.2_Missense_Mutation_p.L22H|COL11A1_uc009weh.2_Missense_Mutation_p.L22H NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 22 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGTCAATGCGAGGGTTGTTAC 0.547 NA 9 51 0 0 0.008291 0 0 ATP5F1 515 broad.mit.edu 37 1 111998816 111998816 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:111998816A>G uc001ebc.2 + 4 753 c.332A>G c.(331-333)TAT>TGT p.Y111C ATP5F1_uc009wgf.1_Missense_Mutation_p.Y258C|ATP5F1_uc001ebd.3_Intron NM_001688 NP_001679 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial F0 111 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding 0 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GTAATGGTCTATGGAATTAAA 0.373 NA 5 100 0 0 0.001168 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T A rs11554290 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:115256529T>A uc009wgu.2 - 3 436 c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 GTP. Q -> K (in neuroblastoma cell). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1) haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1) 2607 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458 Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis melanoma|MM|AML|thyroid Noonan_syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 100 88 0 0 0.00361 0 0 TBX15 6913 broad.mit.edu 37 1 119467342 119467342 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:119467342T>A uc001ehl.1 - 4 617 c.302A>T c.(301-303)GAC>GTC p.D101V NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 207 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CATCCAGGTGTCTCCAGAAGC 0.458 NA 40 139 0 0 0.00874 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561885 145561885 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:145561885C>G uc001eob.1 + 10 1681 c.1573C>G c.(1573-1575)CCC>GCC p.P525A NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.P368A NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 525 ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCTGGGGACTCCCCGTGCTGA 0.617 Melanoma(9;127 754 22988 51047) NA 19 258 0 0 0.010504 0 0 ANP32E 81611 broad.mit.edu 37 1 150199078 150199078 + Silent SNP C C G rs144321821 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:150199078C>G uc001etw.2 - 5 913 c.543G>C c.(541-543)CCG>CCC p.P181P ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Silent_p.P133P|ANP32E_uc010pbv.1_Silent_p.P140P|ANP32E_uc001etv.3_Silent_p.P181P|ANP32E_uc010pbw.1_Missense_Mutation_p.R126P NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 181 Asp/Glu-rich (highly acidic). cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) cATATCCTTCCGGTGGACCAG 0.289 NA 16 43 0 0 0.004007 0 0 FLG2 388698 broad.mit.edu 37 1 152326607 152326608 + Missense_Mutation DNP CC CC AA TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:152326607_152326608CC>AA uc001ezw.3 - 3 3727_3728 c.3654_3655GG>TT c.(3652-3657)TTGGGC>TTTTGC p.1218_1219LG>FC uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1218_1219 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCACCCTGGCCCAAGCCAGTTG 0.46 NA 53 147 0 0 0.004672 0 0 SPTA1 6708 broad.mit.edu 37 1 158592846 158592846 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:158592846C>T uc001fst.1 - 43 6246 c.6047G>A c.(6046-6048)CGC>CAC p.R2016H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2016 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTGTTCCCAGCGCTTCAGCAG 0.478 NA 117 305 0 0 0.00361 0 0 SPTA1 6708 broad.mit.edu 37 1 158595971 158595971 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:158595971C>G uc001fst.1 - 42 6074 c.5875G>C c.(5875-5877)GAC>CAC p.D1959H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1959 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCACCAAGGTCTGCACCATTG 0.423 NA 6 33 0 0 0.004482 0 0 SPTA1 6708 broad.mit.edu 37 1 158617448 158617448 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:158617448G>A uc001fst.1 - 27 3976 c.3777C>T c.(3775-3777)GAC>GAT p.D1259D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1259 Spectrin 12. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTCTCTGCAGGTCCTCAGTGG 0.537 NA 4 75 0 0 0.000602 0 0 OR6K6 128371 broad.mit.edu 37 1 158724939 158724939 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:158724939T>A uc001fsw.1 + 1 334 c.334T>A c.(334-336)TGC>AGC p.C112S NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 112 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) GATGCTGTCCTGCCTAATCAG 0.517 NA 5 120 0 0 0.001168 0 0 OR6N1 128372 broad.mit.edu 37 1 158736121 158736121 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:158736121T>C uc010piq.1 - 1 352 c.352A>G c.(352-354)ATG>GTG p.M118V NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCGTAGGCCATAGCTGTCAGG 0.507 NA 6 48 0 0 0.001168 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799686 159799686 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:159799686A>T uc001fue.3 + 2 281 c.71A>T c.(70-72)CAA>CTA p.Q24L NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN SLAM family member 8 precursor 24 Extracellular (Potential). integral to membrane 0 all_hematologic(112;0.0597) ACTGGTGCCCAAGTGCTGAGC 0.587 NA 68 127 0 0 0.00361 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518430 161518430 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:161518430A>G uc001gat.3 - 4 237 c.100T>C c.(100-102)TGG>CGG p.W34R FCGR3A_uc001gar.2_Missense_Mutation_p.W70R|FCGR3A_uc001gas.2_Missense_Mutation_p.W69R|FCGR3A_uc009wuh.2_Missense_Mutation_p.W33R|FCGR3A_uc009wui.2_Missense_Mutation_p.W34R NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 34 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACCCTGTACCATTGAGGCTCC 0.542 NA 35 117 0 0 0.004289 0 0 GPA33 10223 broad.mit.edu 37 1 167032937 167032937 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:167032937C>A uc001gea.1 - 4 797 c.453G>T c.(451-453)GAG>GAT p.E151D NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 151 Ig-like C2-type.|Extracellular (Potential). integral to plasma membrane receptor activity 0 CAATTATGGTCTCTCCCTCGA 0.542 NA 13 181 0.000422831 0.000472895 0.004007 1 0 SELP 6403 broad.mit.edu 37 1 169586542 169586542 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:169586542C>T uc001ggi.3 - 3 270 c.205G>A c.(205-207)GCC>ACC p.A69T SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.A69T NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 69 Extracellular (Potential).|C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TTCTGGATGGCCACTAAGTCT 0.413 NA 56 136 0 0 0.00361 0 0 C1orf112 55732 broad.mit.edu 37 1 169798428 169798428 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:169798428C>G uc001ggp.2 + 14 1462 c.1152C>G c.(1150-1152)TTC>TTG p.F384L C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.F384L|C1orf112_uc009wvt.2_Missense_Mutation_p.F61L|C1orf112_uc010plu.1_Missense_Mutation_p.S312C|C1orf112_uc009wvu.1_Missense_Mutation_p.F260L|C1orf112_uc001ggr.2_Missense_Mutation_p.F249L|C1orf112_uc010plv.1_Missense_Mutation_p.F326L NM_018186 NP_060656 Q9NSG2 CA112_HUMAN hypothetical protein LOC55732 384 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAGCCGTTTTCTACAGTTTTG 0.373 NA 4 54 0 0 0.009096 0 0 TNR 7143 broad.mit.edu 37 1 175372466 175372466 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:175372466C>T uc001gkp.1 - 2 867 c.786G>A c.(784-786)AGG>AGA p.R262R TNR_uc009wwu.1_Silent_p.R262R|TNR_uc010pmz.1_Silent_p.R262R NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 262 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACCTCAGTTCCCTGCAGTCCT 0.637 NA 13 35 0 0 0.001855 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525707 176525707 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:176525707C>A uc001gkz.2 + 2 1413 c.249C>A c.(247-249)CCC>CCA p.P83P PAPPA2_uc001gky.1_Silent_p.P83P|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 83 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GGCCCTACCCCGTGGGGGAGC 0.562 NA 74 151 1.52589e-26 2.53349e-26 0.00361 1 0 PAPPA2 60676 broad.mit.edu 37 1 176564446 176564446 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:176564446T>A uc001gkz.2 + 3 2870 c.1706T>A c.(1705-1707)GTC>GAC p.V569D PAPPA2_uc001gky.1_Missense_Mutation_p.V569D|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 569 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CAGCTGAGCGTCCACCAGGTC 0.572 NA 11 66 0 0 0.008291 0 0 ASTN1 460 broad.mit.edu 37 1 176915133 176915133 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:176915133C>A uc001glc.2 - 13 2390 c.2178G>T c.(2176-2178)GGG>GGT p.G726G ASTN1_uc001glb.1_Silent_p.G726G|ASTN1_uc001gld.1_Silent_p.G726G|ASTN1_uc009wwx.1_Silent_p.G726G NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 734 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 AGAACATCTCCCCAAAGAGGG 0.502 NA 24 98 1.85244e-09 2.5794e-09 0.00333 1 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820017 179820017 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:179820017C>A uc001gnk.2 - 4 904 c.516G>T c.(514-516)GAG>GAT p.E172D TOR1AIP2_uc001gnl.2_Missense_Mutation_p.E172D NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 172 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 TATCCTCACCCTCTTGCCCTG 0.552 NA 35 81 4.65686e-17 7.26595e-17 0.003755 1 0 QSOX1 5768 broad.mit.edu 37 1 180158700 180158700 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:180158700G>T uc001gnz.2 + 9 1106 c.1031G>T c.(1030-1032)CGG>CTG p.R344L QSOX1_uc001gny.2_Missense_Mutation_p.R344L|QSOX1_uc001goa.2_Missense_Mutation_p.R344L NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 344 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 TTCCCTGGCCGGCCCTTAGTC 0.502 NA 10 270 6.40141e-05 7.44523e-05 0.010729 1 0 CACNA1E 777 broad.mit.edu 37 1 181763998 181763998 + Splice_Site SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:181763998A>T uc001gow.2 + 45 6064 c.5899_splice c.e45-2 p.V1967_splice CACNA1E_uc009wxs.2_Splice_Site_p.V1855_splice|CACNA1E_uc009wxt.2_Splice_Site_p.V1236_splice NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TTGTATTTCCAGGTGGTGACA 0.453 NA 8 55 0 0 0.00308 0 0 KCNT2 343450 broad.mit.edu 37 1 196227561 196227561 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:196227561G>C uc001gtd.1 - 26 3034 c.2974C>G c.(2974-2976)CAC>GAC p.H992D KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.H925D|KCNT2_uc001gtf.1_Missense_Mutation_p.H968D|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.H496D NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 992 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTGCTGCGGTGGTGCCCTTGT 0.453 NA 39 126 0 0 0.009718 0 0 KCNT2 343450 broad.mit.edu 37 1 196395074 196395074 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:196395074C>A uc001gtd.1 - 11 1089 c.1029G>T c.(1027-1029)CAG>CAT p.Q343H KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q343H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q343H|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.Q343H|KCNT2_uc009wyv.1_Missense_Mutation_p.Q318H NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 343 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CCCTTCGAACCTGTACATCCA 0.373 NA 10 33 0.000978159 0.00107844 0.010729 1 0 PTPRC 5788 broad.mit.edu 37 1 198725263 198725263 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:198725263C>A uc001gur.1 + 33 4048 c.3868C>A c.(3868-3870)CAT>AAT p.H1290N PTPRC_uc001gus.1_Missense_Mutation_p.H1242N|PTPRC_uc001gut.1_Missense_Mutation_p.H1129N NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1290 Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GGGGCCAGAACATTCTGTCAA 0.448 NA 16 18 1.67942e-08 2.27502e-08 0.006122 1 0 SHISA4 149345 broad.mit.edu 37 1 201860534 201860534 + Nonsense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:201860534G>T uc001gxa.2 + 4 476 c.385G>T c.(385-387)GAG>TAG p.E129* NM_198149 NP_937792 Q96DD7 SHSA4_HUMAN shisa homolog 4 precursor 129 Cytoplasmic (Potential). integral to membrane 0 TCTAGGCCAGGAGATTCCAAT 0.587 NA 41 67 6.61955e-31 1.11228e-30 0.00361 1 0 CNTN2 6900 broad.mit.edu 37 1 205042200 205042201 + Missense_Mutation DNP TG TG CT TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:205042200_205042201TG>CT uc001hbr.2 + 22 3118_3119 c.2849_2850TG>CT c.(2848-2850)CTG>CCT p.L950P CNTN2_uc001hbs.2_Missense_Mutation_p.L738P NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 950 Fibronectin type-III 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCACAGATGCTGTACCAGAATG 0.54 Melanoma(183;2548 2817 37099 41192) NA 5 26 0 0 0.004672 0 0 CR1L 1379 broad.mit.edu 37 1 207867945 207867945 + Silent SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:207867945T>C uc001hga.3 + 5 832 c.711T>C c.(709-711)AAT>AAC p.N237N CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 237 Sushi 4. cytoplasm|extracellular region|membrane 0 ATGTGGAAAATGGAATATTGG 0.463 NA 91 316 0 0 0.00361 0 0 URB2 9816 broad.mit.edu 37 1 229772435 229772435 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:229772435G>T uc001hts.1 + 4 2211 c.2075G>T c.(2074-2076)CGG>CTG p.R692L URB2_uc009xfd.1_Missense_Mutation_p.R692L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 692 nucleolus central_nervous_system(2)|ovary(1) 3 ACTAGTTTCCGGTCTGAAGGA 0.443 NA 131 262 6.47804e-62 1.11806e-61 0.00361 1 0 GGPS1 9453 broad.mit.edu 37 1 235505515 235505515 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:235505515G>T uc001hwv.2 + 4 415 c.331G>T c.(331-333)GCA>TCA p.A111S GGPS1_uc001hww.2_Missense_Mutation_p.A111S|GGPS1_uc001hwx.2_Missense_Mutation_p.A57S|GGPS1_uc001hwy.2_Missense_Mutation_p.A111S NM_001037277 NP_001032354 O95749 GGPPS_HUMAN geranylgeranyl diphosphate synthase 1 isoform A 111 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;1.39e-05) TCACCCAGATGCAGTGAAGCT 0.448 NA 10 41 0.00621372 0.00663113 0.006214 1 0 RYR2 6262 broad.mit.edu 37 1 237711773 237711773 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:237711773G>A uc001hyl.1 + 26 3069 c.2949G>A c.(2947-2949)CTG>CTA p.L983L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 983 Cytoplasmic (By similarity).|2.|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) CTATGGACCTGAGCTTTATCA 0.453 NA 15 17 0 0 0.003163 0 0 RYR2 6262 broad.mit.edu 37 1 237875121 237875121 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:237875121A>T uc001hyl.1 + 71 10427 c.10307A>T c.(10306-10308)AAG>ATG p.K3436M RYR2_uc010pxz.1_Missense_Mutation_p.K391M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3436 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) ACTGATACCAAGTCAAAGATG 0.303 NA 8 19 0 0 0.006214 0 0 NLRP3 114548 broad.mit.edu 37 1 247587738 247587738 + Silent SNP C C T rs104895401 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:247587738C>T uc001icr.2 + 5 1131 c.993C>T c.(991-993)CTC>CTT p.L331L NLRP3_uc001ics.2_Silent_p.L331L|NLRP3_uc001icu.2_Silent_p.L331L|NLRP3_uc001icw.2_Silent_p.L331L|NLRP3_uc001icv.2_Silent_p.L331L|NLRP3_uc010pyw.1_Silent_p.L329L|NLRP3_uc001ict.1_Silent_p.L329L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 331 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAGACATTCTCCTGAGCAGCC 0.582 NA 22 63 0 0 0.012319 0 0 OR2B11 127623 broad.mit.edu 37 1 247614592 247614592 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:247614592C>A uc010pyx.1 - 1 693 c.693G>T c.(691-693)AGG>AGT p.R231S NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGGACTGGATCCTGAGCACTG 0.547 NA 22 81 7.41877e-09 1.01681e-08 0.012319 1 0 OR2B11 127623 broad.mit.edu 37 1 247614655 247614655 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:247614655G>A uc010pyx.1 - 1 630 c.630C>T c.(628-630)TTC>TTT p.F210F NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GCACCAACACGAAGAAGGCCA 0.562 NA 15 57 0 0 0.004007 0 0 OR6F1 343169 broad.mit.edu 37 1 247875162 247875162 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:247875162T>A uc001idj.1 - 1 896 c.896A>T c.(895-897)GAG>GTG p.E299V NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAGCAGAGTCTCTCTTACTTC 0.428 NA 41 136 0 0 0.010771 0 0 OR14A16 284532 broad.mit.edu 37 1 247978434 247978434 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:247978434T>A uc001idm.1 - 1 598 c.598A>T c.(598-600)ATT>TTT p.I200F NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTACATTAATAAGGATGAGT 0.393 Ovarian(112;180 1586 15073 21914 33526) NA 8 52 0 0 0.006214 0 0 OR2W3 343171 broad.mit.edu 37 1 248058993 248058993 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:248058993C>A uc001idp.1 + 3 374 c.105C>A c.(103-105)TAC>TAA p.Y35* OR2W3_uc010pzb.1_Nonsense_Mutation_p.Y35* NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGATCGCGTACCTCCTGACCC 0.572 NA 39 72 1.42033e-22 2.33054e-22 0.004289 1 0 OR14C36 127066 broad.mit.edu 37 1 248512748 248512748 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:248512748C>A uc010pzl.1 + 1 672 c.672C>A c.(670-672)CTC>CTA p.L224L NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CGACCGTGCTCGGGTTTCCAA 0.498 NA 15 79 3.27435e-08 4.40149e-08 0.00245 1 0 PFKP 5214 broad.mit.edu 37 10 3124618 3124618 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:3124618A>G uc001igp.2 + 2 187 c.151A>G c.(151-153)ATC>GTC p.I51V PFKP_uc001igq.2_Missense_Mutation_p.Y16C|PFKP_uc009xhr.2_Missense_Mutation_p.I13V NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 51 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GCGCATGGGTATCTACGTGGG 0.443 NA 13 88 0 0 0.00245 0 0 IL2RA 3559 broad.mit.edu 37 10 6104076 6104076 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:6104076G>A uc001iiz.1 - 1 198 c.39C>T c.(37-39)TTC>TTT p.F13F IL2RA_uc009xih.1_Silent_p.F13F NM_000417 NP_000408 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha chain precursor 13 cell proliferation integral to membrane interleukin-2 receptor activity ovary(1)|skin(1) 2 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GCACCATGATGAACGTGAGCA 0.612 NA 5 117 0 0 0.001984 0 0 MCM10 55388 broad.mit.edu 37 10 13239666 13239666 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:13239666C>A uc001ima.2 + 15 2122 c.2021C>A c.(2020-2022)ACA>AAA p.T674K MCM10_uc001imb.2_Missense_Mutation_p.T673K|MCM10_uc001imc.2_Missense_Mutation_p.T673K NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 674 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 CAGGTTCTTACAAAAACAAAC 0.398 NA 8 54 1.06961e-07 1.41068e-07 0.00308 1 0 ITGA8 8516 broad.mit.edu 37 10 15649716 15649716 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:15649716T>A uc001ioc.1 - 17 1724 c.1724A>T c.(1723-1725)CAG>CTG p.Q575L ITGA8_uc010qcb.1_Missense_Mutation_p.Q560L NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 575 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GTGGGATTTCTGCCTTTTTAT 0.438 NA 7 200 0 0 0.00308 0 0 GPR158 57512 broad.mit.edu 37 10 25886839 25886839 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:25886839C>A uc001isj.2 + 11 2344 c.2284C>A c.(2284-2286)CCA>ACA p.P762T GPR158_uc001isk.2_Missense_Mutation_p.P137T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 762 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TACGGAGATCCCAGAGACAGT 0.547 NA 16 114 3.52763e-06 4.34122e-06 0.00499 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37486390 37486390 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:37486390G>C uc001iza.1 + 29 2629 c.2530G>C c.(2530-2532)GAA>CAA p.E844Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 900 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTGAAGAATGAACAAACATT 0.333 NA 4 57 0 0 0.009096 0 0 ZNF33A 7581 broad.mit.edu 37 10 38305840 38305840 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:38305840G>T uc001izh.2 + 3 229 c.51G>T c.(49-51)GTG>GTT p.V17V ZNF33A_uc001izg.2_Silent_p.V17V|ZNF33A_uc010qev.1_Silent_p.V24V|ZNF33A_uc001izi.1_Silent_p.V17V|ZNF33A_uc001izj.2_RNA NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 17 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TTAAAGATGTGACTGTGGGCT 0.468 NA 13 41 6.31663e-08 8.42619e-08 0.003163 1 0 BMS1 9790 broad.mit.edu 37 10 43292409 43292409 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:43292409G>T uc001jaj.2 + 10 2075 c.1717G>T c.(1717-1719)GCT>TCT p.A573S NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 573 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GAAGAAAGCAGCTCTCCCCAC 0.483 NA 19 38 8.28177e-16 1.28358e-15 0.007413 1 0 GDF10 2662 broad.mit.edu 37 10 48429174 48429174 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:48429174T>A uc001jfb.2 - 2 1168 c.712A>T c.(712-714)AGC>TGC p.S238C GDF10_uc009xnp.2_Missense_Mutation_p.S237C|GDF10_uc009xnq.1_Missense_Mutation_p.S238C NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 238 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GCATAGGGGCTGGGCCGGGGC 0.667 NA 4 15 0 0 0.000602 0 0 LRRC18 474354 broad.mit.edu 37 10 50121546 50121546 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:50121546C>T uc001jhd.2 - 1 735 c.655G>A c.(655-657)GAC>AAC p.D219N WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.D219N NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 219 cytoplasm ovary(1)|pancreas(1) 2 TTCAGGTTGTCCCGGGCGTTT 0.498 NA 5 136 0 0 0.000602 0 0 CTNNA3 29119 broad.mit.edu 37 10 69299427 69299427 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:69299427C>A uc009xpn.1 - 4 416 c.293G>T c.(292-294)AGT>ATT p.S98I CTNNA3_uc001jmw.2_Missense_Mutation_p.S98I|CTNNA3_uc001jmx.3_Missense_Mutation_p.S98I|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Missense_Mutation_p.S110I NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 98 Potential. cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CAGAGCTTCACCTGAAAAATA 0.418 NA 16 33 3.45872e-05 4.0977e-05 0.004007 1 0 ZFYVE27 118813 broad.mit.edu 37 10 99504558 99504558 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:99504558G>A uc001koo.2 + 4 541 c.341G>A c.(340-342)CGG>CAG p.R114Q ZFYVE27_uc001kon.2_Missense_Mutation_p.R114Q|ZFYVE27_uc001koq.2_Intron|ZFYVE27_uc010qpa.1_Intron|ZFYVE27_uc001kop.2_Missense_Mutation_p.R114Q|ZFYVE27_uc010qpb.1_Missense_Mutation_p.R16Q|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Missense_Mutation_p.R82Q|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Missense_Mutation_p.R114Q|ZFYVE27_uc001kom.1_Missense_Mutation_p.R114Q NM_144588 NP_653189 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 isoform 114 Cytoplasmic (Potential). cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) GAGGTTTGCCGGGCACGGCTG 0.592 NA 4 47 0 0 0.009096 0 0 NEURL 9148 broad.mit.edu 37 10 105331369 105331369 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:105331369G>C uc001kxh.2 + 3 849 c.439G>C c.(439-441)GTG>CTG p.V147L NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 147 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CCCCGACCTGGTGTCCCAGAG 0.647 NA 4 33 0 0 0.009096 0 0 SORCS1 114815 broad.mit.edu 37 10 108466382 108466382 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:108466382C>A uc001kym.2 - 8 1162 c.1154G>T c.(1153-1155)GGA>GTA p.G385V SORCS1_uc001kyl.2_Missense_Mutation_p.G385V|SORCS1_uc009xxs.2_Missense_Mutation_p.G385V|SORCS1_uc001kyn.1_Missense_Mutation_p.G385V|SORCS1_uc001kyo.2_Missense_Mutation_p.G385V NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 385 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGGCCGCCCTCCTGATGTCAG 0.468 NA 7 56 0.00198382 0.0021667 0.001984 1 0 SORCS1 114815 broad.mit.edu 37 10 108489872 108489872 + Nonsense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:108489872C>T uc001kym.2 - 6 968 c.960G>A c.(958-960)TGG>TGA p.W320* SORCS1_uc001kyl.2_Nonsense_Mutation_p.W320*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.W320*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.W320*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.W320* NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 320 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCATCACAGACCTAAAAAATG 0.418 NA 20 38 0 0 0.008871 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111633124 111633124 + Splice_Site SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:111633124C>T uc001kyp.1 - 16 1463 c.1323_splice c.e16+1 p.K441_splice XPNPEP1_uc009xxt.1_Splice_Site_p.K460_splice|XPNPEP1_uc001kyq.1_Splice_Site_p.K370_splice NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity ovary(3)|pancreas(1) 4 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) CTCCACCTTACCTTCTCGTAG 0.408 NA 12 143 0 0 0.001855 0 0 FGFR2 2263 broad.mit.edu 37 10 123279674 123279674 + Missense_Mutation SNP G G A rs77543610 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:123279674G>A uc010qtk.1 - 7 1405 c.758C>T c.(757-759)CCT>CTT p.P253L FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Missense_Mutation_p.P138L|FGFR2_uc010qti.1_Missense_Mutation_p.P164L|FGFR2_uc010qtj.1_Missense_Mutation_p.P253L|FGFR2_uc010qtl.1_Missense_Mutation_p.P253L|FGFR2_uc010qtm.1_Missense_Mutation_p.P138L|FGFR2_uc001lfl.3_Missense_Mutation_p.P253L|FGFR2_uc001lfm.2_Missense_Mutation_p.P164L|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.P272L|FGFR2_uc010qto.1_Missense_Mutation_p.P157L|FGFR2_uc001lfo.1_Missense_Mutation_p.P272L|FGFR2_uc010qtp.1_Missense_Mutation_p.P272L|FGFR2_uc001lfg.3_5'Flank NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 253 Extracellular (Potential). P -> R (in APRS; common mutation).|SP -> FS (in PS). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.P253R(2) endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GGGCCGGTGAGGCGATCGCTC 0.567 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 5 22 0 0 0.001168 0 0 DOCK1 1793 broad.mit.edu 37 10 129172391 129172391 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:129172391G>A uc001ljt.2 + 35 3589 c.3525G>A c.(3523-3525)GTG>GTA p.V1175V DOCK1_uc010qun.1_Silent_p.V1196V|DOCK1_uc009yaq.2_Silent_p.V170V NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1175 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AACTCGTTGTGCGCTTAATGG 0.423 NA 5 25 0 0 0.001984 0 0 OR52E2 119678 broad.mit.edu 37 11 5080000 5080000 + Silent SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:5080000T>A uc010qyw.1 - 1 858 c.858A>T c.(856-858)CCA>CCT p.P286P NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GATTGAGCATTGGTGGCACCA 0.423 NA 12 25 0 0 0.001855 0 0 HBG2 3048 broad.mit.edu 37 11 5275539 5275539 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:5275539C>A uc001mai.1 - 2 735 c.298G>T c.(298-300)GAT>TAT p.D100Y HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.D100Y NM_000559 NP_000550 P69892 HBG2_HUMAN A-gamma globin 100 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCTCAGGATCCACATGCAGC 0.502 NA 21 49 4.4004e-07 5.65419e-07 0.00333 1 0 SAAL1 113174 broad.mit.edu 37 11 18113861 18113861 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:18113861A>G uc001mnq.2 - 4 394 c.344T>C c.(343-345)GTG>GCG p.V115A SAAL1_uc001mnr.2_Missense_Mutation_p.V115A|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.V115A NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 115 acute-phase response extracellular region binding 0 TAAAATTCCCACACAGATTTC 0.343 NA 12 29 0 0 0.013537 0 0 NELL1 4745 broad.mit.edu 37 11 20949926 20949926 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:20949926G>A uc001mqe.2 + 9 1051 c.898G>A c.(898-900)GGT>AGT p.G300S NELL1_uc001mqf.2_Missense_Mutation_p.G300S|NELL1_uc009yid.2_Missense_Mutation_p.G328S|NELL1_uc010rdo.1_Missense_Mutation_p.G243S|NELL1_uc010rdp.1_Missense_Mutation_p.G60S NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 300 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TCCTCAGAGTGGTGCCGTGGA 0.522 NA 19 48 0 0 0.002299 0 0 OR4A15 81328 broad.mit.edu 37 11 55136012 55136012 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:55136012C>A uc010rif.1 + 1 653 c.653C>A c.(652-654)ACC>AAC p.T218N NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 218 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTGCTTGCACCAATACCTAT 0.413 NA 14 33 3.45872e-05 4.0977e-05 0.004007 1 0 OR8K5 219453 broad.mit.edu 37 11 55927530 55927530 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:55927530A>T uc010rja.1 - 1 264 c.264T>A c.(262-264)GAT>GAA p.D88E NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TAGTATTTCGATCCACAACAA 0.388 NA 9 49 0 0 0.004482 0 0 OR8K1 390157 broad.mit.edu 37 11 56114132 56114132 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:56114132G>T uc010rjg.1 + 1 618 c.618G>T c.(616-618)TTG>TTT p.L206F NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TAATAATTTTGATCTTCTCAG 0.373 NA HNSCC(65;0.19) 12 50 3.03607e-14 4.61351e-14 0.013537 1 0 DTX4 23220 broad.mit.edu 37 11 58949516 58949516 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:58949516G>T uc001nns.2 + 2 773 c.516G>T c.(514-516)CAG>CAT p.Q172H DTX4_uc001nnr.2_Missense_Mutation_p.Q66H NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 172 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) CTAAGGCTCAGTCCTGGCCAG 0.657 NA 7 44 0.000157383 0.000179756 0.00308 1 0 MPEG1 219972 broad.mit.edu 37 11 58978321 58978321 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:58978321G>A uc001nnu.3 - 1 2174 c.2018C>T c.(2017-2019)ACC>ATC p.T673I NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 673 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) GATGGCCAAGGTGATAACAAC 0.552 NA 25 56 0 0 0.00278 0 0 MPEG1 219972 broad.mit.edu 37 11 58980169 58980169 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:58980169A>G uc001nnu.3 - 1 326 c.170T>C c.(169-171)GTG>GCG p.V57A NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 57 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) TCCCATGTCCACATTCCGCAG 0.478 NA 28 148 0 0 0.004656 0 0 CD6 923 broad.mit.edu 37 11 60785469 60785469 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:60785469C>A uc001nqq.2 + 11 2044 c.1821C>A c.(1819-1821)ACC>ACA p.T607T CD6_uc001nqp.2_Silent_p.T607T|CD6_uc001nqr.2_Silent_p.T575T|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.T566T NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 607 Cytoplasmic (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 TGGCCGGCACCCAGCCAGCCT 0.557 Pancreas(169;904 2017 4767 38890 42505) NA 13 67 2.23348e-06 2.7829e-06 0.004007 1 0 DAGLA 747 broad.mit.edu 37 11 61511175 61511175 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:61511175G>T uc001nsa.2 + 20 2454 c.2343G>T c.(2341-2343)GAG>GAT p.E781D NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 781 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CCACCATGGAGAGCCTCTCGG 0.721 NA 13 44 4.93089e-13 7.33339e-13 0.00245 1 0 SF1 7536 broad.mit.edu 37 11 64536578 64536578 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:64536578G>A uc001obb.1 - 8 1180 c.803C>T c.(802-804)TCA>TTA p.S268L SF1_uc010rnm.1_5'UTR|SF1_uc010rnn.1_Missense_Mutation_p.S242L|SF1_uc001oaz.1_Missense_Mutation_p.S393L|SF1_uc001oba.1_Missense_Mutation_p.S268L|SF1_uc001obc.1_Missense_Mutation_p.S268L|SF1_uc001obd.1_Missense_Mutation_p.S268L|SF1_uc001obe.1_Missense_Mutation_p.S153L|SF1_uc010rno.1_Missense_Mutation_p.S153L NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 268 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 GCGGGTCTCTGAGCTCTGCCA 0.488 NA 29 119 0 0 0.007291 0 0 SYVN1 84447 broad.mit.edu 37 11 64899785 64899785 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:64899785G>A uc001odb.2 - 6 559 c.465C>T c.(463-465)TTC>TTT p.F155F SYVN1_uc001odc.2_Silent_p.F155F|SYVN1_uc009yqc.2_Intron NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN synoviolin 1 isoform b 155 Helical; (Potential). ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(1) 1 CGTGGCTGACGAAGAGGAAGT 0.592 NA 20 55 0 0 0.012319 0 0 RIN1 9610 broad.mit.edu 37 11 66102525 66102525 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:66102525C>T uc001ohn.1 - 6 872 c.745G>A c.(745-747)GTG>ATG p.V249M RIN1_uc010roy.1_Translation_Start_Site|RIN1_uc009yrd.1_Translation_Start_Site|RIN1_uc010roz.1_Missense_Mutation_p.V144M|RIN1_uc010rpa.1_Missense_Mutation_p.V144M NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 249 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 TCTGTGGACACGCGCACTTTG 0.672 NA 7 44 0 0 0.001984 0 0 SPTBN2 6712 broad.mit.edu 37 11 66461658 66461658 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:66461658C>A uc001ojd.2 - 21 4527 c.4455G>T c.(4453-4455)CAG>CAT p.Q1485H NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1485 Spectrin 11. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CGCGAGAAGCCTGCAGGCGCC 0.647 NA OREG0021113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 54 2.27111e-07 2.94528e-07 0.013537 1 0 MRGPRF 116535 broad.mit.edu 37 11 68777421 68777421 + Translation_Start_Site SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:68777421C>T uc001ooo.3 - 2 316 c.-51G>A c.(-53--49)GGGTG>GGATG MRGPRF_uc001oop.3_Translation_Start_Site|uc001ooq.2_5'Flank NM_001098515 NP_001091985 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F integral to membrane|plasma membrane G-protein coupled receptor activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) AGTCTGCACACCCACCTGGCA 0.672 NA 16 40 0 0 0.003163 0 0 B3GNT6 192134 broad.mit.edu 37 11 76750737 76750737 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:76750737C>A uc001oxw.2 + 2 230 c.142C>A c.(142-144)CCA>ACA p.P48T NM_138706 NP_619651 Q6ZMB0 B3GN6_HUMAN UDP-GlcNAc:betaGal 48 Lumenal (Potential). O-glycan processing, core 3 Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity 0 GGAGGAGACGCCAGAGGGTCC 0.731 NA OREG0021252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 17 0.00116845 0.00128016 0.001168 1 0 FAT3 120114 broad.mit.edu 37 11 92495238 92495238 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:92495238G>T uc001pdj.3 + 4 3903 c.3886G>T c.(3886-3888)GTG>TTG p.V1296L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1296 Cadherin 12.|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) CTACAGTATTGTGGATGGGAA 0.453 NA TCGA Ovarian(4;0.039) 23 150 7.87624e-14 1.18909e-13 0.00278 1 0 AMOTL1 154810 broad.mit.edu 37 11 94554901 94554901 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:94554901C>A uc001pfb.2 + 4 1497 c.1327C>A c.(1327-1329)CAA>AAA p.Q443K AMOTL1_uc001pfc.2_Missense_Mutation_p.Q393K NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 443 Potential. cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) GCGAGCCCAGCAAATGGTGGA 0.602 NA 22 126 4.26978e-12 6.23084e-12 0.00333 1 0 MMP27 64066 broad.mit.edu 37 11 102562551 102562551 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:102562551G>A uc001phd.1 - 10 1511 c.1488C>T c.(1486-1488)AGC>AGT p.S496S NM_022122 NP_071405 Q9H306 MMP27_HUMAN matrix metalloproteinase 27 precursor 496 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) AAATAAACAAGCTTAAACTCT 0.284 NA 21 41 0 0 0.008871 0 0 CASP1 834 broad.mit.edu 37 11 104897650 104897650 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:104897650C>A uc010rve.1 - 8 1052 c.1035G>T c.(1033-1035)ATG>ATT p.M345I CASP1_uc001pig.2_Missense_Mutation_p.M252I|CASP1_uc001pik.2_Missense_Mutation_p.M308I|CASP1_uc010rvf.1_Missense_Mutation_p.M252I|CASP1_uc010rvg.1_Missense_Mutation_p.M324I|CASP1_uc010rvh.1_Missense_Mutation_p.M204I|CASP1_uc010rvi.1_Missense_Mutation_p.M29I|CASP1_uc001pim.3_Missense_Mutation_p.M345I|CASP1_uc009yxi.2_Missense_Mutation_p.M324I|CASP1_uc010rvj.1_Missense_Mutation_p.M345I|CASP1_uc009yxj.2_Missense_Mutation_p.M190I|CASP1_uc010rvk.1_3'UTR NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 345 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AAACAGAGCCCATTGTGGGAT 0.398 NSCLC(41;1246 1743 4934) NA 12 29 5.50884e-06 6.6852e-06 0.013537 1 0 KIAA1826 84437 broad.mit.edu 37 11 105881245 105881245 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:105881245C>A uc001piy.2 - 2 573 c.400G>T c.(400-402)GCA>TCA p.A134S KIAA1826_uc001piz.2_Missense_Mutation_p.A134S NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 134 nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) GATCCACCTGCATCCCTGAAA 0.423 NA 59 48 2.20561e-19 3.54419e-19 0.00361 1 0 FAM55D 54827 broad.mit.edu 37 11 114441811 114441811 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:114441811T>A uc001ppc.2 - 6 1665 c.1484A>T c.(1483-1485)CAA>CTA p.Q495L FAM55D_uc001ppd.2_Missense_Mutation_p.Q211L NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 495 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) GATGAGATATTGAATGTAACC 0.378 NA 18 59 0 0 0.010504 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117985987 117985987 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:117985987A>T uc010rxo.1 + 11 1435 c.1144A>T c.(1144-1146)ACC>TCC p.T382S TMPRSS4_uc010rxp.1_Missense_Mutation_p.T377S|TMPRSS4_uc010rxq.1_Missense_Mutation_p.T235S|TMPRSS4_uc010rxr.1_Missense_Mutation_p.T357S|TMPRSS4_uc010rxs.1_Missense_Mutation_p.T342S|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Missense_Mutation_p.T357S NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 isoform 1 382 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) GGGTGTGGACACCTGCCAGGT 0.557 NA 8 73 0 0 0.006214 0 0 ARCN1 372 broad.mit.edu 37 11 118463522 118463522 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:118463522G>T uc001ptq.2 + 7 1244 c.1083G>T c.(1081-1083)GTG>GTT p.V361V ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Silent_p.V273V|ARCN1_uc009zag.2_Silent_p.V402V NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 361 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) ACGTAGGGGTGCTAAAGTGGA 0.433 NA 306 173 6.77638e-166 1.17245e-165 0.00361 1 0 ABCG4 64137 broad.mit.edu 37 11 119029413 119029413 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:119029413C>A uc001pvs.2 + 11 1650 c.1314C>A c.(1312-1314)GCC>GCA p.A438A ABCG4_uc009zar.2_Silent_p.A438A NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 438 Helical; Name=2; (Potential).|ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGTTCGCCGCCCTCATGCCAA 0.627 NA 117 59 2.54773e-45 4.36486e-45 0.00361 1 0 POU2F3 25833 broad.mit.edu 37 11 120175760 120175760 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:120175760C>T uc001pxc.2 + 7 568 c.466C>T c.(466-468)CCA>TCA p.P156S POU2F3_uc010rzk.1_Missense_Mutation_p.P110S|POU2F3_uc010rzl.1_Missense_Mutation_p.P86S|POU2F3_uc001pxe.1_5'Flank NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 156 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) CCCTGGGCTGCCAGGATCCTC 0.488 NA 45 88 0 0 0.00361 0 0 OR10G9 219870 broad.mit.edu 37 11 123893726 123893726 + Nonsense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:123893726A>T uc010sad.1 + 1 7 c.7A>T c.(7-9)AAG>TAG p.K3* NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGAAATGTCCAAGACCAGCCT 0.517 NA 21 117 0 0 0.010504 0 0 OR8B8 26493 broad.mit.edu 37 11 124310801 124310801 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:124310801A>T uc010sal.1 - 1 181 c.181T>A c.(181-183)TTC>ATC p.F61I NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TAGAGGAAGAAGTACATAGGG 0.443 NA 14 50 0 0 0.001855 0 0 CACNA1C 775 broad.mit.edu 37 12 2778097 2778097 + Splice_Site SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:2778097A>T uc009zdu.1 + 40 5081 c.4768_splice c.e40-2 p.R1590_splice CACNA1C_uc009zdv.1_Splice_Site_p.R1539_splice|CACNA1C_uc001qkb.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkc.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qke.2_Splice_Site_p.R1531_splice|CACNA1C_uc001qkf.2_Splice_Site_p.R1531_splice|CACNA1C_uc001qjz.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkd.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkg.2_Splice_Site_p.R1529_splice|CACNA1C_uc009zdw.1_Splice_Site_p.R1564_splice|CACNA1C_uc001qkh.2_Splice_Site_p.R1531_splice|CACNA1C_uc001qkl.2_Splice_Site_p.R1590_splice|CACNA1C_uc001qkn.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qko.2_Splice_Site_p.R1562_splice|CACNA1C_uc001qkp.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkr.2_Splice_Site_p.R1559_splice|CACNA1C_uc001qku.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkq.2_Splice_Site_p.R1570_splice|CACNA1C_uc001qks.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkt.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qki.1_Splice_Site_p.R1278_splice|CACNA1C_uc001qkj.1_Splice_Site_p.R1278_splice|CACNA1C_uc001qkk.1_Splice_Site_p.R1278_splice|CACNA1C_uc001qkm.1_Splice_Site_p.R1267_splice|CACNA1C_uc010sea.1_Splice_Site_p.R233_splice NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTTCGCCTGCAGCGCCTGGTC 0.502 NA 17 101 0 0 0.004007 0 0 LEPREL2 10536 broad.mit.edu 37 12 6948210 6948210 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:6948210G>A uc001qra.1 + 16 1986 c.1952G>A c.(1951-1953)GGT>GAT p.G651D LEPREL2_uc001qqz.1_Missense_Mutation_p.G458D|LEPREL2_uc001qrb.1_Missense_Mutation_p.G458D|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank|GNB3_uc009zfe.2_5'Flank NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 651 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity 0 L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTCAGCTCCGGTGTCGAGAAT 0.657 NA 20 25 0 0 0.008871 0 0 ATN1 1822 broad.mit.edu 37 12 7050624 7050624 + Missense_Mutation SNP A A C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:7050624A>C uc001qrw.1 + 9 3683 c.3446A>C c.(3445-3447)GAG>GCG p.E1149A ATN1_uc001qrx.1_Missense_Mutation_p.E1149A|C12orf57_uc009zfj.1_5'Flank|C12orf57_uc001qrz.2_5'Flank NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 1149 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CAGTCAGCTGAGCTGCAGCGC 0.642 NA 35 34 0 0 0.003755 0 0 A2M 2 broad.mit.edu 37 12 9225370 9225370 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:9225370G>A uc001qvk.1 - 30 3967 c.3854C>T c.(3853-3855)ACA>ATA p.T1285I A2M_uc001qvj.1_Missense_Mutation_p.T327I|A2M_uc009zgk.1_Missense_Mutation_p.T1135I NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1285 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GCTGGAAAATGTCCCTGAAGA 0.517 NA 6 109 0 0 0.001168 0 0 AEBP2 121536 broad.mit.edu 37 12 19615515 19615515 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:19615515G>A uc001ref.2 + 2 769 c.743G>A c.(742-744)GGA>GAA p.G248E AEBP2_uc001ree.2_Missense_Mutation_p.G248E|AEBP2_uc001reg.1_Missense_Mutation_p.G19E NM_001114176 NP_001107648 Q6ZN18 AEBP2_HUMAN AE binding protein 2 isoform b 248 Ser-rich.|Interaction with RBBP4. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) ATGATGAATGGACAAGGAAGC 0.423 NA 17 17 0 0 0.006122 0 0 FAR2 55711 broad.mit.edu 37 12 29474839 29474839 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:29474839G>A uc001ris.3 + 10 1386 c.1239G>A c.(1237-1239)CTG>CTA p.L413L FAR2_uc001rit.2_Silent_p.L413L|FAR2_uc009zjm.2_Silent_p.L316L NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 413 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 TGTCTGAGCTGAGTCCTGAAG 0.403 NA 13 59 0 0 0.001855 0 0 IPO8 10526 broad.mit.edu 37 12 30784831 30784831 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:30784831G>A uc001rjd.2 - 24 3184 c.3014C>T c.(3013-3015)GCA>GTA p.A1005V IPO8_uc001rje.1_Missense_Mutation_p.A494V|IPO8_uc010sjt.1_Missense_Mutation_p.A800V NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 1005 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TGGCTGACCTGCCACCGTCCG 0.557 NA 7 58 0 0 0.00308 0 0 TSPAN11 441631 broad.mit.edu 37 12 31135488 31135488 + Missense_Mutation SNP A A T rs148719778 by1000genomes TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:31135488A>T uc010sju.1 + 6 858 c.478A>T c.(478-480)AGC>TGC p.S160C TSPAN11_uc001rjp.2_Missense_Mutation_p.S160C|TSPAN11_uc010sjv.1_Missense_Mutation_p.S150C NM_001080509 NP_001073978 A1L157 TSN11_HUMAN tetraspanin 11 160 integral to membrane 0 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TGGAAGCAACAGCTCAGCCGA 0.627 NA 3 49 0 0 0.000602 0 0 SYT10 341359 broad.mit.edu 37 12 33559996 33559996 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:33559996G>C uc001rll.1 - 3 1102 c.805C>G c.(805-807)CCT>GCT p.P269A SYT10_uc009zju.1_Missense_Mutation_p.P79A NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 269 Cytoplasmic (Potential).|C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTCACATAAGGGTCAGAAGTT 0.343 NA 5 41 0 0 0.001984 0 0 NELL2 4753 broad.mit.edu 37 12 44926385 44926385 + Missense_Mutation SNP G G T rs80147310 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:44926385G>T uc001rog.2 - 16 2378 c.1783C>A c.(1783-1785)CCA>ACA p.P595T NELL2_uc001rof.3_Missense_Mutation_p.P594T|NELL2_uc001roh.2_Missense_Mutation_p.P595T|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Missense_Mutation_p.P645T|NELL2_uc010sla.1_Missense_Mutation_p.P618T|NELL2_uc001roi.1_Missense_Mutation_p.P595T|NELL2_uc010slb.1_Missense_Mutation_p.P594T NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 595 EGF-like 5; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TCTCCACTTGGTGAAAACATC 0.408 NA 8 41 3.86212e-05 4.52198e-05 0.008291 1 0 KCNH3 23416 broad.mit.edu 37 12 49937199 49937199 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:49937199A>G uc001ruh.1 + 5 981 c.721A>G c.(721-723)ACT>GCT p.T241A KCNH3_uc010smj.1_Missense_Mutation_p.T181A NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 241 Helical; Name=Segment S1; (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 TGTGGCTGTCACTGTGCCCTA 0.647 NA 15 28 0 0 0.00245 0 0 FAIM2 23017 broad.mit.edu 37 12 50282944 50282944 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:50282944G>A uc001rvj.1 - 10 838 c.693C>T c.(691-693)CTC>CTT p.L231L FAIM2_uc001rvi.1_Silent_p.L185L|FAIM2_uc001rvk.1_RNA NM_012306 NP_036438 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 231 Helical; (Potential). anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|ovary(1)|skin(1) 3 AAAGAGTCATGAGAAGCACGA 0.617 NA 3 10 0 0 0.004672 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282384 52282384 + Translation_Start_Site SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:52282384C>A uc001rzf.3 + 2 356 c.-223C>A c.(-225--221)TTCTG>TTATG ANKRD33_uc001rzh.3_Missense_Mutation_p.L60M|ANKRD33_uc001rzd.2_Missense_Mutation_p.L60M|ANKRD33_uc001rze.2_Translation_Start_Site|ANKRD33_uc001rzg.3_Translation_Start_Site|ANKRD33_uc001rzi.3_Translation_Start_Site NM_001130015 NP_001123487 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 isoform 1 0 BRCA - Breast invasive adenocarcinoma(357;0.0969) GACTCACCTTCTGGTTCCCTG 0.597 NA 6 71 0.00116845 0.00128016 0.001168 1 0 HOXC10 3226 broad.mit.edu 37 12 54379623 54379623 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:54379623G>T uc001sen.2 + 1 678 c.580G>T c.(580-582)GGC>TGC p.G194C NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 194 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 TCAGCTGGGGGGCAAAGTGAG 0.642 NA 9 22 3.03607e-14 4.61351e-14 0.013537 1 0 MIP 4284 broad.mit.edu 37 12 56848062 56848062 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:56848062G>T uc001slh.2 - 1 368 c.336C>A c.(334-336)GTC>GTA p.V112V NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 112 Extracellular (By similarity). response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 GGTTTCCTCGGACAGCAGGTG 0.602 NA 8 64 0.00448238 0.00482771 0.004482 1 0 ZBTB39 9880 broad.mit.edu 37 12 57396914 57396914 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:57396914C>T uc001sml.1 - 2 1874 c.1788G>A c.(1786-1788)CTG>CTA p.L596L RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GTTGGCCCTGCAGCGCCAGCT 0.587 NA 13 63 0 0 0.001855 0 0 KCNC2 3747 broad.mit.edu 37 12 75601598 75601598 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:75601598G>C uc001sxg.1 - 2 710 c.166C>G c.(166-168)CCG>GCG p.P56A KCNC2_uc009zry.2_Missense_Mutation_p.P56A|KCNC2_uc001sxe.2_Missense_Mutation_p.P56A|KCNC2_uc001sxf.2_Missense_Mutation_p.P56A|KCNC2_uc010stw.1_Missense_Mutation_p.P56A NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 56 Gly/Pro-rich (insert).|Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 ggcggcgacggctgcagcTTG 0.517 NA 3 11 0 0 0.009096 0 0 NAV3 89795 broad.mit.edu 37 12 78334186 78334186 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:78334186G>T uc001syp.2 + 2 504 c.331G>T c.(331-333)GTA>TTA p.V111L NAV3_uc001syo.2_Missense_Mutation_p.V111L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 111 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGCAGATGGAGTACTCCTAGC 0.448 NA HNSCC(70;0.22) 29 40 1.55811e-20 2.52111e-20 0.008361 1 0 CDK17 5128 broad.mit.edu 37 12 96692734 96692734 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:96692734T>C uc001tep.1 - 7 1117 c.628A>G c.(628-630)AGA>GGA p.R210G CDK17_uc009ztk.2_Missense_Mutation_p.R210G|CDK17_uc010svb.1_Missense_Mutation_p.R157G NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 210 Protein kinase. ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 AATTTACTTCTTCCTTTATAT 0.308 NA 17 57 0 0 0.006122 0 0 SLC5A8 160728 broad.mit.edu 37 12 101577997 101577997 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:101577997T>A uc001thz.3 - 8 1357 c.967A>T c.(967-969)ATG>TTG p.M323L NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 323 Extracellular (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 AAATAAGGCATGAGCTGAAAA 0.378 GBM(60;420 1056 13605 22380 47675) NA 6 34 0 0 0.001168 0 0 MAPKAPK5 8550 broad.mit.edu 37 12 112326315 112326315 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:112326315G>A uc001tta.2 + 11 1252 c.993G>A c.(991-993)CAG>CAA p.Q331Q MAPKAPK5_uc001tsz.2_Silent_p.Q331Q|MAPKAPK5_uc001ttb.2_Silent_p.Q264Q NM_139078 NP_620777 Q8IW41 MAPK5_HUMAN MAP kinase-activated protein kinase 5 isoform 2 331 signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1) 3 GAATCCAGCAGGCTCACGCGG 0.498 NA 10 88 0 0 0.008291 0 0 C12orf51 283450 broad.mit.edu 37 12 112708216 112708216 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:112708216C>T uc009zwc.2 - 5 712 c.694G>A c.(694-696)GTT>ATT p.V232I C12orf51_uc010syk.1_Missense_Mutation_p.V55I|C12orf51_uc001tts.2_Missense_Mutation_p.V55I|C12orf51_uc001ttt.3_Missense_Mutation_p.V55I NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 ATCGCACCAACGTGGTGCAAT 0.448 NA 24 238 0 0 0.004656 0 0 DTX1 1840 broad.mit.edu 37 12 113515322 113515322 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:113515322G>C uc001tuk.1 + 2 689 c.353G>C c.(352-354)TGG>TCG p.W118S NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 118 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GGCGGCGCATGGACGGCCTAC 0.632 NA 8 53 0 0 0.008291 0 0 NOS1 4842 broad.mit.edu 37 12 117768467 117768467 + Silent SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:117768467G>C uc001twm.1 - 2 1094 c.408C>G c.(406-408)TCC>TCG p.S136S NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 136 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTGGCTGGTGGGACAGATCCA 0.657 Esophageal Squamous(162;1748 2599 51982 52956) NA 36 72 0 0 0.005524 0 0 KSR2 283455 broad.mit.edu 37 12 118105377 118105377 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:118105377G>A uc001two.2 - 5 1041 c.986C>T c.(985-987)CCG>CTG p.P329L NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 358 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGACAGCAGCGGGGAGCGCTG 0.582 NA 3 23 0 0 0.004672 0 0 SIRT4 23409 broad.mit.edu 37 12 120741852 120741852 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr12:120741852G>T uc001tyc.2 + 2 508 c.488G>T c.(487-489)TGC>TTC p.C163F NM_012240 NP_036372 Q9Y6E7 SIRT4_HUMAN sirtuin 4 163 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCACGGATGCATGGACAGG 0.537 NA 4 64 0.00909568 0.00957512 0.009096 1 0 KL 9365 broad.mit.edu 37 13 33628269 33628269 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:33628269G>C uc001uus.2 + 2 1193 c.1185G>C c.(1183-1185)AGG>AGC p.R395S KL_uc001uur.1_Missense_Mutation_p.R88S NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 395 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCAACCTGAGGCAACTGCTTT 0.443 NA 28 145 0 0 0.007291 0 0 HTR2A 3356 broad.mit.edu 37 13 47409209 47409209 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:47409209C>A uc001vbq.2 - 3 1313 c.1179G>T c.(1177-1179)CGG>CGT p.R393R HTR2A_uc001vbr.2_Silent_p.R293R|HTR2A_uc010acr.2_Silent_p.R393R NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 393 Cytoplasmic (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ACTGAATATACCGTGAAAAGG 0.418 NA 13 47 5.50884e-06 6.6852e-06 0.013537 1 0 HTR2A 3356 broad.mit.edu 37 13 47466626 47466626 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:47466626A>T uc001vbq.2 - 2 646 c.512T>A c.(511-513)CTG>CAG p.L171Q HTR2A_uc001vbr.2_Missense_Mutation_p.L71Q|HTR2A_uc010acr.2_Missense_Mutation_p.L171Q NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 171 Helical; Name=3; (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTAGCGGTCCAGCGAGATGGC 0.547 NA 53 182 0 0 0.00361 0 0 LOC647288 647288 broad.mit.edu 37 13 75814465 75814465 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:75814465G>A uc010ths.1 - 1 53 c.12C>T c.(10-12)CCC>CCT p.P4P NR_027466 Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327). 0 GGGTAGCACCGGGCTCCTCCA 0.592 NA 3 27 0 0 0.004672 0 0 CLN5 1203 broad.mit.edu 37 13 77569228 77569228 + Silent SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:77569228T>G uc001vkc.2 + 2 379 c.351T>G c.(349-351)CCT>CCG p.P117P NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 68 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) AACCTGATCCTTATTGTCAAG 0.378 NA 6 78 0 0 0.001168 0 0 CLN5 1203 broad.mit.edu 37 13 77569333 77569333 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:77569333A>G uc001vkc.2 + 2 484 c.456A>G c.(454-456)GAA>GAG p.E152E NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 103 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) CAGTATGGGAATTTAAATATG 0.383 NA 6 112 0 0 0.001984 0 0 DCT 1638 broad.mit.edu 37 13 95092211 95092211 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:95092211C>A uc001vlv.3 - 8 1928 c.1501G>T c.(1501-1503)GGA>TGA p.G501* DCT_uc010afh.2_Nonsense_Mutation_p.G534* NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 501 Cytoplasmic (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GGTGTATATCCTTTTCGAAGT 0.458 NA 7 38 8.12818e-05 9.37558e-05 0.001984 1 0 COL4A1 1282 broad.mit.edu 37 13 110819542 110819542 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:110819542C>T uc001vqw.3 - 44 4034 c.3912G>A c.(3910-3912)AAG>AAA p.K1304K COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1304 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCATATCACCCTTAGAGCCTG 0.517 NA 7 199 0 0 0.001984 0 0 RASA3 22821 broad.mit.edu 37 13 114773056 114773056 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr13:114773056C>A uc001vui.2 - 18 1826 c.1695G>T c.(1693-1695)GGG>GGT p.G565G RASA3_uc010tkk.1_Silent_p.G533G|RASA3_uc001vuj.2_Silent_p.G182G NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 565 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GGTCTCTTCTCCCCGAGGACG 0.363 NA 9 38 2.17888e-05 2.59904e-05 0.006214 1 0 POTEG 404785 broad.mit.edu 37 14 19563437 19563437 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:19563437G>T uc001vuz.1 + 5 1003 c.951G>T c.(949-951)TCG>TCT p.S317S POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 317 ANK 5. ovary(1) 1 GTTGTGGATCGGCAAGTATAG 0.358 NA 11 72 1.5739e-10 2.23609e-10 0.004007 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216191 20216191 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:20216191C>A uc010tkt.1 + 1 605 c.605C>A c.(604-606)GCC>GAC p.A202D NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGTGATAGCCAACAGTGGT 0.498 NA 13 31 0.00010058 0.000115634 0.013537 1 0 TGM1 7051 broad.mit.edu 37 14 24727494 24727494 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:24727494T>A uc001wod.2 - 9 1523 c.1399A>T c.(1399-1401)AGT>TGT p.S467C TGM1_uc010tog.1_Missense_Mutation_p.S25C NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 467 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) AGCTTACCACTGCTAGTCTCT 0.617 NA 3 30 0 0 0.004672 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884816 24884816 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:24884816C>T uc001wpf.3 + 9 4179 c.3861C>T c.(3859-3861)CCC>CCT p.P1287P NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1287 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 TGCTCACCCCCGCGGCCTCCA 0.622 NA 11 121 0 0 0.008291 0 0 GZMH 2999 broad.mit.edu 37 14 25076845 25076845 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:25076845G>C uc001wpr.1 - 3 357 c.312C>G c.(310-312)AAC>AAG p.N104K GZMH_uc010aly.1_Missense_Mutation_p.N104K|GZMH_uc010alz.1_Intron NM_033423 NP_219491 P20718 GRAH_HUMAN granzyme H precursor 104 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(265;0.0267) CGTTGGAGAAGTTCTTAGGAT 0.537 NA 6 173 0 0 0.00333 0 0 PRKD1 5587 broad.mit.edu 37 14 30135337 30135337 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:30135337C>T uc001wqh.2 - 3 662 c.481G>A c.(481-483)GAT>AAT p.D161N NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 161 Phorbol-ester/DAG-type 1. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CCACAGTGATCACAGAAAGCT 0.408 NA 13 88 0 0 0.004007 0 0 HEATR5A 25938 broad.mit.edu 37 14 31774347 31774347 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:31774347T>A uc001wrf.3 - 26 4201 c.4124A>T c.(4123-4125)GAG>GTG p.E1375V HEATR5A_uc010ami.2_Missense_Mutation_p.E1273V NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1662 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CTCTCCAAACTCTGGCAGAGT 0.438 NA 17 45 0 0 0.004007 0 0 SEC23A 10484 broad.mit.edu 37 14 39543704 39543704 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:39543704T>C uc001wup.1 - 9 1241 c.1018A>G c.(1018-1020)ACA>GCA p.T340A SEC23A_uc010tqa.1_Missense_Mutation_p.T202A|SEC23A_uc010tqb.1_Missense_Mutation_p.T311A|SEC23A_uc010tqc.1_Missense_Mutation_p.T202A NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 340 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TGGCCAGTTGTAGCAGCTCGA 0.338 NA 71 61 0 0 0.00361 0 0 HSPA2 3306 broad.mit.edu 37 14 65008744 65008744 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:65008744G>T uc001xhj.2 + 2 1253 c.1177G>T c.(1177-1179)GAC>TAC p.D393Y HSPA2_uc001xhk.3_Missense_Mutation_p.D393Y NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 393 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) GAATGTGCAGGACCTGCTGCT 0.612 Pancreas(136;1211 1835 24894 31984 38227) NA 11 43 3.07112e-06 3.79278e-06 0.010729 1 0 DCAF5 8816 broad.mit.edu 37 14 69521308 69521308 + Missense_Mutation SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:69521308T>G uc001xkp.2 - 9 2314 c.2095A>C c.(2095-2097)AAA>CAA p.K699Q DCAF5_uc001xkq.2_Missense_Mutation_p.K698Q NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 699 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 GGGTTGTCTTTGTGGCTGGTT 0.537 NA 7 145 0 0 0.001984 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73440837 73440837 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:73440837G>A uc001xnm.2 - 11 2692 c.2052C>T c.(2050-2052)GCC>GCT p.A684A ZFYVE1_uc001xnl.2_Silent_p.A269A|ZFYVE1_uc010arj.2_Silent_p.A670A NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 684 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) TGTTCTGCACGGCCTCGCCCA 0.557 NA 9 61 0 0 0.006214 0 0 DNAL1 83544 broad.mit.edu 37 14 74125618 74125618 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:74125618A>G uc001xoq.3 + 3 276 c.111A>G c.(109-111)ATA>ATG p.I37M DNAL1_uc010aru.2_Translation_Start_Site|DNAL1_uc010arv.2_Intron NM_031427 NP_113615 Q4LDG9 DNAL1_HUMAN axonemal dynein light chain 1 37 0 BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095) TTCCCCCTATAGAGAAGATGG 0.398 NA 57 211 0 0 0.00361 0 0 FOXN3 1112 broad.mit.edu 37 14 89647103 89647103 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:89647103G>C uc001xxo.3 - 6 996 c.859C>G c.(859-861)CTG>GTG p.L287V FOXN3_uc001xxn.3_Missense_Mutation_p.L265V|FOXN3_uc010atk.2_Missense_Mutation_p.L265V NM_001085471 NP_001078940 O00409 FOXN3_HUMAN checkpoint suppressor 1 isoform 1 287 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(2)|ovary(1) 3 CCAGGAAACAGCCCTCGGCTC 0.592 NA 9 12 0 0 0.010729 0 0 BTBD7 55727 broad.mit.edu 37 14 93709128 93709128 + Missense_Mutation SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr14:93709128T>G uc001ybo.2 - 11 3216 c.2890A>C c.(2890-2892)ACC>CCC p.T964P BTBD7_uc010aur.2_Missense_Mutation_p.T489P|BTBD7_uc010two.1_Missense_Mutation_p.T784P|BTBD7_uc001ybp.2_Missense_Mutation_p.T613P NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 964 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GGGGAAGGGGTGCGTCTGCTG 0.488 NA 29 45 0 0 0.009535 0 0 GABRB3 2562 broad.mit.edu 37 15 26866615 26866615 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:26866615G>T uc001zaz.2 - 4 449 c.307C>A c.(307-309)CCT>ACT p.P103T GABRB3_uc010uae.1_Missense_Mutation_p.P18T|GABRB3_uc001zba.2_Missense_Mutation_p.P103T|GABRB3_uc001zbb.2_Missense_Mutation_p.P159T|GABRB3_uc001zbc.2_RNA NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 103 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGTTGAGAGGGATCCCAGAA 0.418 NA 17 55 5.35267e-07 6.84006e-07 0.007413 1 0 GABRA5 2558 broad.mit.edu 37 15 27182439 27182439 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:27182439C>A uc001zbd.1 + 9 1027 c.688C>A c.(688-690)CAG>AAG p.Q230K GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 230 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCTGATGGGGCAGACGGTGGG 0.607 NA 3 22 0.00909568 0.00957512 0.009096 1 0 HERC2 8924 broad.mit.edu 37 15 28474639 28474639 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:28474639C>A uc001zbj.2 - 33 5193 c.5087G>T c.(5086-5088)TGG>TTG p.W1696L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1696 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) AAGTCTTTGCCATCCACAAAA 0.388 NA 14 81 1.36491e-13 2.05177e-13 0.001855 1 0 PLA2G4D 283748 broad.mit.edu 37 15 42374529 42374529 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:42374529A>G uc001zox.2 - 9 826 c.731T>C c.(730-732)CTG>CCG p.L244P NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 244 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CAAGGGCCTCAGGGGCACAGT 0.438 NA 3 58 0 0 0.004672 0 0 SLC12A1 6557 broad.mit.edu 37 15 48551398 48551399 + Missense_Mutation DNP CC CC AA TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:48551398_48551399CC>AA uc001zwn.3 + 17 2260_2261 c.2044_2045CC>AA c.(2044-2046)CCC>AAC p.P682N SLC12A1_uc010uew.1_Missense_Mutation_p.P488N|SLC12A1_uc010bem.2_Missense_Mutation_p.P682N|SLC12A1_uc001zwq.3_Missense_Mutation_p.P453N|SLC12A1_uc001zwr.3_Missense_Mutation_p.P409N NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 682 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TACTTCCAGGCCCCAGTGCATT 0.48 NA 8 81 0 0 0.004672 0 0 CEP152 22995 broad.mit.edu 37 15 49036530 49036530 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:49036530C>A uc001zwy.2 - 23 3608 c.3574G>T c.(3574-3576)GCA>TCA p.A1192S CEP152_uc001zwz.2_Missense_Mutation_p.A1248S|CEP152_uc001zxa.1_Missense_Mutation_p.A1155S NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1192 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) ATGGCCCCTGCTGACAATGAC 0.328 NA 6 30 8.12818e-05 9.37558e-05 0.001984 1 0 ALDH1A2 8854 broad.mit.edu 37 15 58253451 58253451 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:58253451C>A uc002aex.2 - 11 1351 c.1293G>T c.(1291-1293)ATG>ATT p.M431I ALDH1A2_uc002aey.2_Missense_Mutation_p.M393I|ALDH1A2_uc010ugv.1_Missense_Mutation_p.M410I|ALDH1A2_uc010ugw.1_Missense_Mutation_p.M402I|ALDH1A2_uc002aew.2_Missense_Mutation_p.M335I NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 431 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TAACTTCATCCATCGTCTTAA 0.413 NA 3 32 0.00024832 0.000280413 0.009096 1 0 CORO2B 10391 broad.mit.edu 37 15 69007578 69007578 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:69007578G>A uc002arj.3 + 8 924 c.895G>A c.(895-897)GAG>AAG p.E299K CORO2B_uc010bic.2_Missense_Mutation_p.E294K|CORO2B_uc002ark.2_Missense_Mutation_p.E66K NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 299 WD 5. actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 CCGGTACTACGAGATCAGCAC 0.617 NA 6 115 0 0 0.001168 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75557766 75557766 + Splice_Site SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:75557766G>A uc002azs.1 + 9 800 c.723_splice c.e9+1 p.E241_splice uc002azt.1_5'Flank NM_001145224 NP_001138696 A6NDK9 GOG6C_HUMAN golgi autoantigen, golgin subfamily a, 6D ovary(1) 1 GTCGGTGGAGGTGAGGTCTGA 0.413 NA 8 78 0 0 0.00308 0 0 Unknown 0 broad.mit.edu 37 15 75595021 75595021 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:75595021C>T uc002azx.1 - 1 286 c.36G>A c.(34-36)CTG>CTA p.L12L SubName: Full=Putative uncharacterized protein DNM1P33; NA ACGAAGGCATCAGGGCGGCCA 0.612 NA 3 10 0 0 0.004672 0 0 C15orf27 123591 broad.mit.edu 37 15 76496577 76496577 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:76496577C>A uc002bbq.2 + 11 1672 c.1517C>A c.(1516-1518)CCC>CAC p.P506H C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Missense_Mutation_p.P322H|C15orf27_uc002bbs.2_Missense_Mutation_p.P184H NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 506 integral to membrane 0 CACTTCCAGCCCACTGTGCCC 0.552 NA 19 101 5.35267e-07 6.84006e-07 0.007413 1 0 SH2D7 646892 broad.mit.edu 37 15 78390402 78390403 + Missense_Mutation DNP CC CC AA TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:78390402_78390403CC>AA uc010blb.1 + 3 398_399 c.398_399CC>AA c.(397-399)CCC>CAA p.P133Q NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 133 SH2. 0 CAGCTCGAGCCCTTCAAAGAGA 0.624 NA 3 18 0 0 0.004672 0 0 BNC1 646 broad.mit.edu 37 15 83926469 83926469 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:83926469C>T uc002bjt.1 - 5 2798 c.2710G>A c.(2710-2712)GAT>AAT p.D904N BNC1_uc010uos.1_Missense_Mutation_p.D892N NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 904 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GGGTACTCATCTTCCCCAGGG 0.547 NA 34 205 0 0 0.004289 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611461 84611461 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:84611461G>T uc002bjz.3 + 18 2455 c.2231G>T c.(2230-2232)CGA>CTA p.R744L ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R744L|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R744L NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 744 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGGAGTGCCGAGATGAAAAG 0.582 NA 17 41 1.02788e-11 1.49374e-11 0.00499 1 0 AGBL1 123624 broad.mit.edu 37 15 86940733 86940733 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:86940733C>G uc002blz.1 + 17 2453 c.2373C>G c.(2371-2373)TTC>TTG p.F791L NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 791 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 ACTTCATCTTCAAGATCATAC 0.512 NA 3 71 0 0 0.004672 0 0 NTRK3 4916 broad.mit.edu 37 15 88678345 88678345 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:88678345C>A uc002bme.1 - 9 1353 c.1191G>T c.(1189-1191)AAG>AAT p.K397N NTRK3_uc002bmh.2_Missense_Mutation_p.K397N|NTRK3_uc002bmf.1_Missense_Mutation_p.K397N|NTRK3_uc010upl.1_Missense_Mutation_p.K299N|NTRK3_uc010bnh.1_Missense_Mutation_p.K397N|NTRK3_uc002bmg.2_Missense_Mutation_p.K397N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 397 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GAAAGGGCTCCTTGAGGAAGT 0.527 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 15 92 1.33834e-09 1.87099e-09 0.007413 1 0 NTRK3 4916 broad.mit.edu 37 15 88678354 88678354 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:88678354G>T uc002bme.1 - 9 1344 c.1182C>A c.(1180-1182)CAC>CAA p.H394Q NTRK3_uc002bmh.2_Missense_Mutation_p.H394Q|NTRK3_uc002bmf.1_Missense_Mutation_p.H394Q|NTRK3_uc010upl.1_Missense_Mutation_p.H296Q|NTRK3_uc010bnh.1_Missense_Mutation_p.H394Q|NTRK3_uc002bmg.2_Missense_Mutation_p.H394Q NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 394 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CCTTGAGGAAGTGGCCATTGA 0.537 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 17 95 1.33834e-09 1.87099e-09 0.007413 1 0 AP3S2 10239 broad.mit.edu 37 15 90447054 90447054 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr15:90447054C>A uc002bos.3 - 4 618 c.463G>T c.(463-465)GGG>TGG p.G155W C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.G155W NM_182616 NP_872422 P59780 AP3S2_HUMAN hypothetical protein LOC348110 Error:Variant_position_missing_in_P59780_after_alignment intracellular protein transport|vesicle-mediated transport cytoplasmic vesicle membrane|Golgi apparatus|membrane coat protein transporter activity 0 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) ACCCCGGCCCCCAGCTCGAGT 0.642 NA 12 77 2.27111e-07 2.94528e-07 0.013537 1 0 LMF1 64788 broad.mit.edu 37 16 929612 929612 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:929612C>A uc002ckj.2 - 6 859 c.855G>T c.(853-855)CGG>CGT p.R285R LMF1_uc010brh.2_Silent_p.R68R|LMF1_uc010bri.2_Silent_p.R48R|LMF1_uc002ckk.2_Silent_p.R68R|LMF1_uc010uuu.1_RNA NM_022773 NP_073610 Q96S06 LMF1_HUMAN lipase maturation factor 1 285 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 Hepatocellular(780;0.00308) TGCACGCCCGCCGGCCGAGGA 0.662 NA 4 18 1.23904e-05 1.49069e-05 0.000602 1 0 ERCC4 2072 broad.mit.edu 37 16 14028125 14028125 + Silent SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:14028125A>T uc002dce.2 + 7 1188 c.1179A>T c.(1177-1179)GCA>GCT p.A393A ERCC4_uc010uyz.1_5'UTR NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 393 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 AAATTGAGGCAGAAAATAAGG 0.368 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 40 115 0 0 0.00874 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883228 19883228 + Missense_Mutation SNP T T A rs145563587 byFrequency TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:19883228T>A uc002dgt.2 - 2 1048 c.940A>T c.(940-942)AGG>TGG p.R314W GPRC5B_uc010vav.1_Missense_Mutation_p.R340W NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 314 Cytoplasmic (Potential). lung(1)|breast(1)|skin(1) 3 TCCCGCATCCTGGGCTGCGAC 0.597 NA 35 38 0 0 0.013726 0 0 UMOD 7369 broad.mit.edu 37 16 20352615 20352615 + Missense_Mutation SNP G G A rs139607138 byFrequency TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:20352615G>A uc002dgz.2 - 7 1504 c.1375C>T c.(1375-1377)CGG>TGG p.R459W UMOD_uc002dha.2_Missense_Mutation_p.R459W|UMOD_uc002dhb.2_Missense_Mutation_p.R492W NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 459 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 AGCGCCATCCGCACGGTGAAC 0.597 NA 4 34 0 0 0.001168 0 0 OTOA 146183 broad.mit.edu 37 16 21737885 21737885 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:21737885C>A uc002djh.2 + 18 1923 c.1922C>A c.(1921-1923)CCC>CAC p.P641H uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.P562H|OTOA_uc002dji.2_Missense_Mutation_p.P317H|OTOA_uc010vbk.1_Missense_Mutation_p.P289H NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 655 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) CAGTGTGTGCCCTTTCTGATC 0.552 NA 23 123 6.12954e-19 9.80445e-19 0.004656 1 0 CACNG3 10368 broad.mit.edu 37 16 24366154 24366154 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:24366154G>A uc002dmf.2 + 3 1496 c.296G>A c.(295-297)CGA>CAA p.R99Q NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 99 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) CTCTCCGCAGGAGCTGTGAGG 0.637 NA 11 57 0 0 0.013537 0 0 GSG1L 146395 broad.mit.edu 37 16 27802775 27802775 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:27802775G>T uc002doz.2 - 7 997 c.912C>A c.(910-912)CAC>CAA p.H304Q GSG1L_uc010bya.1_Missense_Mutation_p.H253Q|GSG1L_uc010bxz.1_Missense_Mutation_p.H167Q|GSG1L_uc002doy.2_Missense_Mutation_p.H149Q NM_001109763 NP_001103233 Q6UXU4 GSG1L_HUMAN GSG1-like isoform 1 304 integral to membrane ovary(1) 1 AATCCGCCATGTGTGGCTGGT 0.627 NA 11 25 1.58986e-06 1.9916e-06 0.008291 1 0 TUFM 7284 broad.mit.edu 37 16 28856035 28856035 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:28856035G>A uc002drh.2 - 5 807 c.668C>T c.(667-669)GCT>GTT p.A223V uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 220 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 GGCACAGAGAGCAGAGCCTAC 0.607 NA 4 59 0 0 0.009096 0 0 CORO1A 11151 broad.mit.edu 37 16 30199766 30199766 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:30199766G>A uc002dww.2 + 10 1272 c.1150G>A c.(1150-1152)GAT>AAT p.D384N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.D384N|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.D278N|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 384 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 GGGGGGTCGGGATGCTGGGCC 0.697 NA 12 79 0 0 0.010729 0 0 ZNF423 23090 broad.mit.edu 37 16 49670063 49670063 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:49670063C>A uc002efs.2 - 5 3298 c.3000G>T c.(2998-3000)GAG>GAT p.E1000D ZNF423_uc010vgn.1_Missense_Mutation_p.E883D NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1000 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TAAACTCCTCCTCGCTCTGCA 0.597 NA 3 24 0.004672 0.00500111 0.004672 1 0 RPGRIP1L 23322 broad.mit.edu 37 16 53686885 53686885 + Missense_Mutation SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:53686885T>G uc002ehp.2 - 15 1778 c.1714A>C c.(1714-1716)ATT>CTT p.I572L RPGRIP1L_uc002eho.3_Missense_Mutation_p.I572L|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.I572L|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.I572L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.I572L NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 572 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) CCATAGGCAATATCCTTTAAT 0.368 NA 5 64 0 0 0.000602 0 0 GINS3 64785 broad.mit.edu 37 16 58437222 58437222 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:58437222A>T uc002enh.3 + 2 615 c.407A>T c.(406-408)CAG>CTG p.Q136L GINS3_uc010cdj.2_Missense_Mutation_p.Q175L|GINS3_uc002enj.3_Intron|GINS3_uc002eni.3_Missense_Mutation_p.Q136L NM_022770 NP_073607 Q9BRX5 PSF3_HUMAN GINS complex subunit 3 isoform b 136 DNA replication nucleus 0 GACATTTCCCAGTCTCTGCTG 0.517 NA 5 21 0 0 0.000602 0 0 DUS2L 54920 broad.mit.edu 37 16 68104916 68104916 + Missense_Mutation SNP G G T rs150098325 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:68104916G>T uc002evi.2 + 12 864 c.715G>T c.(715-717)GTG>TTG p.V239L DUS2L_uc002evj.2_Missense_Mutation_p.V239L|DUS2L_uc010vkk.1_Missense_Mutation_p.V204L|DUS2L_uc010cez.2_Missense_Mutation_p.V152L NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 239 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) AGCCTCTTCCGTGATGGTGGC 0.542 NA 16 63 8.28177e-16 1.28358e-15 0.007413 1 0 HYDIN 54768 broad.mit.edu 37 16 70975570 70975570 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:70975570C>A uc002ezr.2 - 43 6947 c.6819G>T c.(6817-6819)AAG>AAT p.K2273N NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2274 Potential. ovary(1)|skin(1) 2 Ovarian(137;0.0654) TCTCCTGGGCCTTCATGGCTG 0.532 NA 20 142 1.55795e-14 2.37774e-14 0.012319 1 0 HYDIN 54768 broad.mit.edu 37 16 71007878 71007878 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:71007878T>A uc002ezr.2 - 34 5208 c.5080A>T c.(5080-5082)ACC>TCC p.T1694S NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1695 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GTTGGAATGGTCACCTTGGCT 0.483 NA 9 54 0 0 0.00499 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77389879 77389879 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:77389879G>A uc002ffc.3 - 9 1837 c.1418C>T c.(1417-1419)TCA>TTA p.S473L ADAMTS18_uc010chc.1_Missense_Mutation_p.S61L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S169L|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 473 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GGAAGACCATGAAAACACTCC 0.473 NA 11 40 0 0 0.008291 0 0 CDH13 1012 broad.mit.edu 37 16 83813620 83813620 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:83813620G>A uc002fgx.2 + 12 1849 c.1729G>A c.(1729-1731)GAC>AAC p.D577N CDH13_uc010vns.1_Missense_Mutation_p.D624N|CDH13_uc010vnt.1_Missense_Mutation_p.D323N|CDH13_uc010vnu.1_Missense_Mutation_p.D538N NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 577 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AACCCTGGAGGACGTGAATGA 0.488 NA 9 30 0 0 0.010729 0 0 TAF1C 9013 broad.mit.edu 37 16 84215065 84215065 + Missense_Mutation SNP G G A rs138550395 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:84215065G>A uc002fhn.2 - 10 1339 c.1111C>T c.(1111-1113)CGG>TGG p.R371W TAF1C_uc002fhm.2_Missense_Mutation_p.R278W|TAF1C_uc010vnx.1_Missense_Mutation_p.R345W|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Missense_Mutation_p.R39W|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Missense_Mutation_p.R39W|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_3'UTR NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 371 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 TAGATTTGCCGCAGCCTTGGG 0.637 NA 10 26 0 0 0.006214 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84914128 84914128 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:84914128G>C uc010voh.1 + 13 1470 c.1243G>C c.(1243-1245)GCA>CCA p.A415P CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.A414P|CRISPLD2_uc002fin.3_Missense_Mutation_p.A415P NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain 415 LCCL 2. extracellular region|transport vesicle 0 CCATTGTCCGGCACACTGCAA 0.433 NA 37 147 0 0 0.00874 0 0 FOXC2 2303 broad.mit.edu 37 16 86601062 86601062 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:86601062T>C uc002fjq.2 + 1 206 c.121T>C c.(121-123)TAT>CAT p.Y41H NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 41 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 CATGGGCGTCTATTCCGGCCA 0.701 NA Late-onset_Hereditary_Lymphedema 10 17 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7578455 7578455 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:7578455C>G uc002gim.2 - 5 669 c.475G>C c.(475-477)GCC>CCC p.A159P TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 159 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) ATGGCCATGGCGCGGACGCGG 0.627 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 29 0 0 0.007291 0 0 DNAH9 1770 broad.mit.edu 37 17 11584038 11584038 + Splice_Site SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:11584038A>G uc002gne.2 + 19 3645 c.3577_splice c.e19-2 p.E1193_splice DNAH9_uc010coo.2_Splice_Site_p.E487_splice NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTTCCTTTGCAGGAGCTGCCT 0.522 NA 3 15 0 0 0.009096 0 0 MYOCD 93649 broad.mit.edu 37 17 12656601 12656601 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:12656601G>T uc002gnn.2 + 10 2295 c.1996G>T c.(1996-1998)GGG>TGG p.G666W MYOCD_uc002gno.2_Missense_Mutation_p.G666W|MYOCD_uc002gnp.1_Missense_Mutation_p.G570W|MYOCD_uc002gnq.2_Missense_Mutation_p.G385W NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 666 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CTCATCCTCCGGGGCCCAGGG 0.607 NA 11 71 1.5842e-08 2.15021e-08 0.001855 1 0 TNFRSF13B 23495 broad.mit.edu 37 17 16875341 16875341 + Nonsense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:16875341G>A uc002gqs.1 - 1 62 c.49C>T c.(49-51)CAG>TAG p.Q17* TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Nonsense_Mutation_p.Q17*|TNFRSF13B_uc010vwu.1_Nonsense_Mutation_p.Q17* NM_012452 NP_036584 O14836 TR13B_HUMAN tumor necrosis factor receptor 13B 17 Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity kidney(2) 2 CGCTCCTCCTGGTCCACACGG 0.622 NA IgA_Deficiency_Selective 25 28 0 0 0.003954 0 0 C17orf103 256302 broad.mit.edu 37 17 21146659 21146659 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:21146659G>A uc010vzx.1 - 4 311 c.309C>T c.(307-309)CCC>CCT p.P103P NM_152914 NP_690878 Q8N6N6 GTL3B_HUMAN transcript expressed during hematopoiesis 2 103 0 ACTGCGGCAGGGGGTTCTCCT 0.672 NA 3 49 0 0 0.000602 0 0 Unknown 0 broad.mit.edu 37 17 21730961 21730961 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:21730961C>A uc002gyy.3 + 2 388 c.263C>A c.(262-264)ACC>AAC p.T88N SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA ACCGGCAAGACCATCACCCTG 0.532 NA 3 27 0.00024832 0.000280413 0.009096 1 0 NOS2 4843 broad.mit.edu 37 17 26109073 26109073 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:26109073G>T uc002gzu.2 - 7 954 c.690C>A c.(688-690)CAC>CAA p.H230Q NOS2_uc010crh.1_Missense_Mutation_p.H230Q|NOS2_uc010wab.1_Missense_Mutation_p.H230Q NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 230 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AGTAACGCACGTGTCTGCAGA 0.547 NA 5 18 5.9392e-07 7.57573e-07 0.001168 1 0 EFCAB5 374786 broad.mit.edu 37 17 28380882 28380882 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:28380882G>T uc002het.2 + 10 2102 c.1910G>T c.(1909-1911)GGA>GTA p.G637V EFCAB5_uc010wbi.1_Missense_Mutation_p.G380V|EFCAB5_uc010wbj.1_Missense_Mutation_p.G581V|EFCAB5_uc010wbk.1_Missense_Mutation_p.G294V|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.G516V|EFCAB5_uc010csf.2_Missense_Mutation_p.G516V NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 637 calcium ion binding ovary(1)|skin(1) 2 GCAGAACAGGGATCACTCAGA 0.443 NA 6 98 3.59834e-05 4.23441e-05 0.001168 1 0 MED1 5469 broad.mit.edu 37 17 37566045 37566045 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:37566045G>T uc002hrv.3 - 17 2641 c.2429C>A c.(2428-2430)TCT>TAT p.S810Y MED1_uc010wee.1_Missense_Mutation_p.S638Y|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 810 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) AGAGCTTGAAGAATCTCGAAG 0.433 Pancreas(21;279 768 2492 4877 24026) NA HNSCC(31;0.082) 16 128 3.45872e-05 4.0977e-05 0.004007 1 0 KRT31 3881 broad.mit.edu 37 17 39553533 39553533 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:39553533G>T uc002hwn.2 - 1 312 c.259C>A c.(259-261)CTC>ATC p.L87I KRT31_uc010cxn.2_Missense_Mutation_p.L87I NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 87 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) TCCCGGATGAGGTTCTCCAGC 0.587 NA 13 70 1.5842e-08 2.15021e-08 0.001855 1 0 FMNL1 752 broad.mit.edu 37 17 43323889 43323889 + Missense_Mutation SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:43323889T>G uc002iin.2 + 26 3429 c.3229T>G c.(3229-3231)TTC>GTC p.F1077V FMNL1_uc002iiq.2_Intron|FMNL1_uc010dag.2_Intron|LOC100133991_uc010dah.2_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 1077 DAD. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GACGGTGCCCTTCACGGCCCG 0.587 GBM(164;1247 1997 8702 11086 51972) NA OREG0024478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 45 0 0 0.000602 0 0 KPNB1 3837 broad.mit.edu 37 17 45748181 45748181 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:45748181C>T uc002ilt.1 + 12 1866 c.1530C>T c.(1528-1530)CTC>CTT p.L510L KPNB1_uc010wkw.1_Silent_p.L365L|KPNB1_uc010wkx.1_Silent_p.L294L NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 510 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TTCAGAAGCTCCTAGAGACTA 0.418 NA 14 129 0 0 0.00245 0 0 MPO 4353 broad.mit.edu 37 17 56355387 56355387 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:56355387G>A uc002ivu.1 - 7 1182 c.1005C>T c.(1003-1005)TCC>TCT p.S335S NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 335 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) CGTCCACGAAGGAAGTGAGCG 0.637 NA 11 76 0 0 0.008291 0 0 C17orf71 55181 broad.mit.edu 37 17 57289749 57289749 + Missense_Mutation SNP A A C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:57289749A>C uc002ixi.2 + 2 1849 c.1807A>C c.(1807-1809)AGC>CGC p.S603R NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 603 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ATATCACAATAGCCGAGCTCG 0.413 NA 35 105 0 0 0.003755 0 0 DDX42 11325 broad.mit.edu 37 17 61890703 61890703 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:61890703G>T uc002jbu.2 + 16 2048 c.1791G>T c.(1789-1791)GTG>GTT p.V597V DDX42_uc002jbv.2_Silent_p.V597V|DDX42_uc002jbw.1_Silent_p.V333V|DDX42_uc002jbx.2_Silent_p.V333V|DDX42_uc002jby.2_Silent_p.V143V|DDX42_uc010wps.1_5'Flank NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 597 Helicase C-terminal. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 AGAAAGGTGTGGCCTATACCC 0.488 NA 7 101 0.00307968 0.00334789 0.00308 1 0 SCN4A 6329 broad.mit.edu 37 17 62049725 62049725 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:62049725C>A uc002jds.1 - 2 456 c.379G>T c.(379-381)GTG>TTG p.V127L NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 127 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TGGATGAGCACCTTGATGGCC 0.617 NA 9 32 0.000274275 0.000308229 0.004482 1 0 C17orf95 124512 broad.mit.edu 37 17 74729667 74729667 + Nonsense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:74729667G>T uc002jsr.2 + 5 804 c.472G>T c.(472-474)GAG>TAG p.E158* C17orf95_uc002jsp.2_3'UTR|C17orf95_uc002jsq.2_RNA|C17orf95_uc002jss.2_3'UTR|C17orf95_uc002jst.2_Nonsense_Mutation_p.E91*|C17orf95_uc002jsu.2_RNA|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank NM_001080510 NP_001073979 Q86XA0 MET23_HUMAN hypothetical protein LOC124512 158 integral to membrane methyltransferase activity 0 CATTCCTCTTGAGTCTTTTGA 0.383 NA 51 164 5.57489e-27 9.30036e-27 0.00361 1 0 USP36 57602 broad.mit.edu 37 17 76794540 76794540 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:76794540G>C uc002jvz.1 - 20 3659 c.3334C>G c.(3334-3336)CAC>GAC p.H1112D USP36_uc002jwa.1_Missense_Mutation_p.H1112D|USP36_uc002jvy.1_Missense_Mutation_p.H172D NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 1110 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TTTGCTGGGTGAGTCACAGAC 0.443 NA 22 95 0 0 0.004656 0 0 ENGASE 64772 broad.mit.edu 37 17 77079624 77079624 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:77079624C>T uc002jwv.2 + 9 1211 c.1203C>T c.(1201-1203)GTC>GTT p.V401V ENGASE_uc002jww.2_Silent_p.V107V NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 401 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 TGCCTTTCGTCACGTCCTTCT 0.627 NA 10 51 0 0 0.006214 0 0 ZFP161 7541 broad.mit.edu 37 18 5290937 5290937 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr18:5290937G>C uc002kmq.2 - 4 1431 c.1270C>G c.(1270-1272)CAG>GAG p.Q424E ZFP161_uc002kmr.2_Missense_Mutation_p.Q424E|ZFP161_uc010dkp.2_Missense_Mutation_p.Q424E NM_003409 NP_003400 O43829 ZF161_HUMAN zinc finger protein 161 homolog 424 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTCTCGCTCTGGATGGCACTG 0.567 NA 30 63 0 0 0.009535 0 0 MC5R 4161 broad.mit.edu 37 18 13825819 13825819 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr18:13825819G>T uc010xaf.1 + 1 55 c.55G>T c.(55-57)GGC>TGC p.G19C NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 19 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TGCCACAGAGGGCAACCTTTC 0.448 NA 28 41 1.33986e-20 2.173e-20 0.004656 1 0 POTEC 388468 broad.mit.edu 37 18 14542897 14542897 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr18:14542897A>G uc010dln.2 - 1 703 c.249T>C c.(247-249)TCT>TCC p.S83S POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 83 skin(3) 3 CATGGTCTCCAGAAGTGCCCA 0.582 NA 44 107 0 0 0.009718 0 0 FHOD3 80206 broad.mit.edu 37 18 34298531 34298531 + Nonsense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr18:34298531G>A uc002kzt.1 + 15 2791 c.2694G>A c.(2692-2694)TGG>TGA p.W898* FHOD3_uc002kzs.1_Nonsense_Mutation_p.W915*|FHOD3_uc010dmz.1_Nonsense_Mutation_p.W630*|FHOD3_uc010dna.1_Nonsense_Mutation_p.W218* NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 898 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GTTTGTTCTGGAATGAAGTTC 0.507 NA 21 75 0 0 0.008871 0 0 KIAA0427 9811 broad.mit.edu 37 18 46385872 46385872 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr18:46385872C>G uc002ldc.2 + 12 2024 c.1739C>G c.(1738-1740)CCT>CGT p.P580R KIAA0427_uc002ldd.2_Missense_Mutation_p.P582R|KIAA0427_uc002lde.3_Missense_Mutation_p.P209R NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 580 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 AGCTGGAACCCTCTGACGCCC 0.652 NA 15 58 0 0 0.00499 0 0 ACAA2 10449 broad.mit.edu 37 18 47329193 47329193 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr18:47329193G>C uc002ldw.3 - 2 444 c.47C>G c.(46-48)CCC>CGC p.P16R ACAA2_uc002ldx.3_Missense_Mutation_p.P13R NM_006111 NP_006102 P42765 THIM_HUMAN acetyl-coenzyme A acyltransferase 2 16 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 AGCTCCAAAGGGCGTTCGCTT 0.448 NA 11 52 0 0 0.003163 0 0 CCDC102B 79839 broad.mit.edu 37 18 66504245 66504245 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr18:66504245A>T uc002lkk.2 + 4 468 c.245A>T c.(244-246)AAG>ATG p.K82M CCDC102B_uc002lki.2_Missense_Mutation_p.K82M|CCDC102B_uc002lkj.1_Missense_Mutation_p.K82M NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 82 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GAAGAAGTCAAGGCCAGAGCT 0.473 NA 28 89 0 0 0.013726 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785468 1785468 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:1785468C>A uc002ltw.2 - 26 3627 c.3393G>T c.(3391-3393)GAG>GAT p.E1131D ATP8B3_uc002ltv.2_Missense_Mutation_p.E1094D|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1131 Helical; (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTGCCCACCTCCATGGTGA 0.667 NA 4 23 0.00909568 0.00957512 0.009096 1 0 AP3D1 8943 broad.mit.edu 37 19 2109914 2109914 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:2109914T>A uc002luz.2 - 27 3345 c.3122A>T c.(3121-3123)CAC>CTC p.H1041L AP3D1_uc010dsv.2_Missense_Mutation_p.H131L|AP3D1_uc002luy.2_Missense_Mutation_p.H1000L|AP3D1_uc002lva.2_Missense_Mutation_p.H1103L NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 1041 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGCTGAAGTGCAGCCTGAA 0.637 NA 5 54 0 0 0.001168 0 0 CREB3L3 84699 broad.mit.edu 37 19 4157097 4157097 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:4157097G>A uc002lzl.2 + 3 378 c.262G>A c.(262-264)GGC>AGC p.G88S CREB3L3_uc002lzm.2_Missense_Mutation_p.G78S|CREB3L3_uc010xib.1_Missense_Mutation_p.G79S|CREB3L3_uc010xic.1_Missense_Mutation_p.G79S NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 88 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CAGTGATAGTGGCATCTCCGA 0.677 NA 8 55 0 0 0.00308 0 0 STAP2 55620 broad.mit.edu 37 19 4325419 4325419 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:4325419G>A uc002mab.2 - 10 1050 c.953C>T c.(952-954)CCA>CTA p.P318L STAP2_uc002mac.2_Missense_Mutation_p.P318L|STAP2_uc002mad.2_Missense_Mutation_p.P211L NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 318 Pro-rich. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GTCAACAGCTGGGCCATCTCC 0.577 NA 19 101 0 0 0.007413 0 0 EMR1 2015 broad.mit.edu 37 19 6921732 6921732 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:6921732G>T uc002mfw.2 + 14 1667 c.1629G>T c.(1627-1629)CAG>CAT p.Q543H EMR1_uc010dvc.2_Missense_Mutation_p.Q543H|EMR1_uc010dvb.2_Missense_Mutation_p.Q491H|EMR1_uc010xji.1_Missense_Mutation_p.Q402H|EMR1_uc010xjj.1_Missense_Mutation_p.Q366H NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 543 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) AGCCAAAGCAGAAGTTTGAGA 0.413 NA 4 23 0.00909568 0.00957512 0.009096 1 0 CD209 30835 broad.mit.edu 37 19 7809059 7809059 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:7809059A>G uc002mht.2 - 6 1014 c.947T>C c.(946-948)ATG>ACG p.M316T CD209_uc010xju.1_Missense_Mutation_p.M155T|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Missense_Mutation_p.M292T|CD209_uc002mhs.2_Missense_Mutation_p.M246T|CD209_uc002mhu.2_Missense_Mutation_p.M224T|CD209_uc010dvq.2_Missense_Mutation_p.M310T|CD209_uc002mhq.2_Missense_Mutation_p.M316T|CD209_uc002mhv.2_Missense_Mutation_p.M292T|CD209_uc002mhx.2_Missense_Mutation_p.M272T|CD209_uc002mhw.2_Missense_Mutation_p.M180T|CD209_uc010dvr.2_Missense_Mutation_p.M80T NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 316 Extracellular (Probable).|C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 TGAAAGTCCCATCCAGGTGAA 0.557 NA 13 72 0 0 0.004007 0 0 HNRNPM 4670 broad.mit.edu 37 19 8527445 8527445 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:8527445G>A uc010dwe.2 + 3 396 c.316G>A c.(316-318)GAC>AAC p.D106N HNRNPM_uc010dwc.1_Missense_Mutation_p.D106N|HNRNPM_uc010xke.1_Missense_Mutation_p.D106N|HNRNPM_uc010dwd.2_Missense_Mutation_p.D106N|HNRNPM_uc002mka.2_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 106 RRM 1. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 GCTCTTAATGGACGCTGAAGG 0.398 NA 61 165 0 0 0.00361 0 0 OR7D4 125958 broad.mit.edu 37 19 9324917 9324917 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:9324917C>T uc002mla.1 - 1 597 c.597G>A c.(595-597)TTG>TTA p.L199L NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TGGCCACATACAAGACAATGT 0.522 NA 32 79 0 0 0.013726 0 0 ZNF121 7675 broad.mit.edu 37 19 9677032 9677032 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:9677032C>A uc010xkp.1 - 4 989 c.757G>T c.(757-759)GAG>TAG p.E253* ZNF121_uc010dwt.2_Nonsense_Mutation_p.E253*|ZNF121_uc010xkq.1_Nonsense_Mutation_p.E253* NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGGGCTTCTCCTCTGTGTGA 0.373 NA 10 74 0.000442599 0.000493424 0.006214 1 0 OR7C2 26658 broad.mit.edu 37 19 15052430 15052430 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:15052430C>A uc010xoc.1 + 1 130 c.130C>A c.(130-132)CTC>ATC p.L44I NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) CGGAAACCTGCTCATCATCCT 0.517 NA 23 42 2.32416e-17 3.63442e-17 0.002299 1 0 GMIP 51291 broad.mit.edu 37 19 19749277 19749277 + Silent SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:19749277T>C uc002nnd.2 - 8 669 c.552A>G c.(550-552)AAA>AAG p.K184K GMIP_uc010xrb.1_Silent_p.K184K|GMIP_uc010xrc.1_Silent_p.K184K NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 184 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 TCTCAGTCCGTTTGGCGGCGA 0.597 NA 5 22 0 0 0.00308 0 0 ZNF14 7561 broad.mit.edu 37 19 19822649 19822649 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:19822649C>A uc002nnk.1 - 4 1595 c.1441G>T c.(1441-1443)GGA>TGA p.G481* NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 481 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) AAAACTTTTCCACACTGTTTA 0.393 NA 6 78 3.59834e-05 4.23441e-05 0.001168 1 0 ZNF829 374899 broad.mit.edu 37 19 37382996 37382996 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:37382996T>A uc002ofa.1 - 6 1059 c.697A>T c.(697-699)ATT>TTT p.I233F ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 233 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCAGTGTGAATCCTCTGATGT 0.378 NA 4 72 0 0 0.009096 0 0 RYR1 6261 broad.mit.edu 37 19 38960040 38960040 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:38960040C>A uc002oit.2 + 27 3782 c.3652C>A c.(3652-3654)CTC>ATC p.L1218I RYR1_uc002oiu.2_Missense_Mutation_p.L1218I NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1218 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATCTGTGGCCTCCAGGAAGG 0.602 NA 34 222 2.05212e-20 3.31277e-20 0.005524 1 0 PAPL 390928 broad.mit.edu 37 19 39591613 39591613 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:39591613C>A uc002oki.2 + 8 1106 c.832C>A c.(832-834)CGG>AGG p.R278R PAPL_uc010egl.2_Silent_p.P236P NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN iron/zinc purple acid phosphatase-like protein 278 extracellular region acid phosphatase activity|metal ion binding 0 CCGGGCAGCCCGGCCGTGGAT 0.627 NA 54 95 5.2118e-15 8.00669e-15 0.00361 1 0 FCGBP 8857 broad.mit.edu 37 19 40412002 40412002 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:40412002C>G uc002omp.3 - 7 3634 c.3626G>C c.(3625-3627)GGA>GCA p.G1209A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1209 Cys-rich. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGAATCACATCCGGGGCCAGG 0.667 NA 37 69 0 0 0.004878 0 0 LTBP4 8425 broad.mit.edu 37 19 41113371 41113371 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:41113371C>G uc002ooh.1 + 10 1293 c.1293C>G c.(1291-1293)TGC>TGG p.C431W LTBP4_uc002oog.1_Missense_Mutation_p.C394W|LTBP4_uc002ooi.1_Missense_Mutation_p.C364W|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 431 TB 2. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) AACAGATCTGCTGCTGCAGCC 0.667 NA 27 30 0 0 0.005443 0 0 PSG6 5675 broad.mit.edu 37 19 43411745 43411745 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:43411745A>G uc002ovj.1 - 4 1020 c.968T>C c.(967-969)GTC>GCC p.V323A PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.V330A|PSG6_uc002ovi.2_Missense_Mutation_p.V324A|PSG6_uc010xwk.1_Missense_Mutation_p.V163A|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_Missense_Mutation_p.V113A|PSG6_uc002ovf.1_Intron|PSG6_uc002ovg.1_Missense_Mutation_p.V323A NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 323 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) ATTCAGGGTGACTGGGTTACT 0.512 NA 30 89 0 0 0.00361 0 0 PSG7 5676 broad.mit.edu 37 19 43430607 43430607 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:43430607A>G uc002ovl.3 - 5 1073 c.971T>C c.(970-972)GTC>GCC p.V324A PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.V202A NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 324 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) ATTCAGGGTGACTGGGTCACT 0.507 NA 18 213 0 0 0.002299 0 0 ZNF229 7772 broad.mit.edu 37 19 44933335 44933335 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:44933335C>A uc002oze.1 - 6 2055 c.1621G>T c.(1621-1623)GGA>TGA p.G541* ZNF229_uc010ejk.1_Nonsense_Mutation_p.G195*|ZNF229_uc010ejl.1_Nonsense_Mutation_p.G535* NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) GGTTTCTCTCCTGTGTGCAGT 0.512 NA 14 257 2.31682e-05 2.75887e-05 0.003163 1 0 C19orf41 126123 broad.mit.edu 37 19 50661573 50661573 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:50661573G>T uc002prp.1 - 5 535 c.448C>A c.(448-450)CAT>AAT p.H150N NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 150 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) CTCTGGCAATGTAAACAGTCC 0.502 NA 14 70 9.16793e-09 1.25164e-08 0.00499 1 0 MYH14 79784 broad.mit.edu 37 19 50804968 50804968 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:50804968G>A uc002prr.1 + 38 5444 c.5397G>A c.(5395-5397)AAG>AAA p.K1799K MYH14_uc010enu.1_Silent_p.K1840K|MYH14_uc002prq.1_Silent_p.K1807K|MYH14_uc010ycb.1_Silent_p.K150K|MYH14_uc002prs.1_Silent_p.K150K NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1799 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TCTCAGCCAAGGCAGAGAGCG 0.622 NA 9 53 0 0 0.013537 0 0 NLRP7 199713 broad.mit.edu 37 19 55447801 55447801 + Splice_Site SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:55447801T>C uc002qih.3 - 6 2206 c.2130_splice c.e6-1 p.E710_splice NLRP7_uc002qig.3_Splice_Site_p.E682_splice|NLRP7_uc002qii.3_Splice_Site_p.E710_splice|NLRP7_uc010esk.2_Splice_Site_p.E710_splice|NLRP7_uc010esl.2_Splice_Site_p.E738_splice NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TTTTTAATCCTAGGGAAAAGC 0.448 NA 10 23 0 0 0.013537 0 0 PEG3 5178 broad.mit.edu 37 19 57327451 57327451 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:57327451C>T uc002qnu.2 - 7 2710 c.2359G>A c.(2359-2361)GCT>ACT p.A787T 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.A758T|PEG3_uc002qnv.2_Missense_Mutation_p.A787T|PEG3_uc002qnw.2_Missense_Mutation_p.A663T|PEG3_uc002qnx.2_Missense_Mutation_p.A661T|PEG3_uc010etr.2_Missense_Mutation_p.A787T NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 787 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) CTTTTCTGAGCTTCCACAGAG 0.438 NA 65 203 0 0 0.00361 0 0 ZNF304 57343 broad.mit.edu 37 19 57867648 57867648 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:57867648G>T uc010ygw.1 + 3 799 c.411G>T c.(409-411)AAG>AAT p.K137N ZNF304_uc010etw.2_Missense_Mutation_p.K184N|ZNF304_uc010etx.2_Missense_Mutation_p.K95N NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 137 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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;0.0265) AGCACCAGAAGCAACATAATG 0.493 NA 8 38 5.4927e-09 7.55787e-09 0.004482 1 0 ZNF547 284306 broad.mit.edu 37 19 57888789 57888789 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:57888789G>T uc002qol.2 + 4 638 c.445G>T c.(445-447)GTT>TTT p.V149F ZNF547_uc002qpm.3_Missense_Mutation_p.V75F|ZNF547_uc010ygx.1_Missense_Mutation_p.V149F NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAACCACAGAGTTCACATGGC 0.463 NA 16 34 3.57192e-18 5.67449e-18 0.006122 1 0 ZNF416 55659 broad.mit.edu 37 19 58089425 58089425 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:58089425C>A uc002qpf.2 - 2 246 c.75G>T c.(73-75)CAG>CAT p.Q25H ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 25 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;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTCCACTCACCTGTGTAAAGC 0.527 NA 12 41 2.68362e-12 3.94086e-12 0.013537 1 0 ZBTB45 84878 broad.mit.edu 37 19 59027778 59027778 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:59027778G>T uc002qtd.2 - 2 1555 c.1263C>A c.(1261-1263)CAC>CAA p.H421Q ZBTB45_uc002qte.2_Missense_Mutation_p.H421Q|ZBTB45_uc002qtf.2_Missense_Mutation_p.H421Q NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 421 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GGATGAACATGTGCTTGGTGT 0.582 NSCLC(164;1383 2017 5233 27540 46677) NA 8 28 0.00448238 0.00482771 0.004482 1 0 TRIM28 10155 broad.mit.edu 37 19 59059178 59059178 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:59059178G>A uc002qtg.1 + 6 1148 c.859G>A c.(859-861)GTA>ATA p.V287I TRIM28_uc010eut.1_Missense_Mutation_p.V205I|TRIM28_uc002qth.1_5'Flank NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 287 RBCC domain.|Leucine zipper alpha helical coiled-coil region. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GGTGTCTGACGTACAGAAGCG 0.582 NA 12 53 0 0 0.010729 0 0 UBE2M 9040 broad.mit.edu 37 19 59067459 59067459 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:59067459T>A uc002qtl.3 - 6 1144 c.549A>T c.(547-549)AAA>AAT p.K183N CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank NM_003969 NP_003960 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 183 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity ovary(1)|pancreas(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GCCAACCCTATTTCAGGCAGC 0.627 NA 4 22 0 0 0.009096 0 0 ALLC 55821 broad.mit.edu 37 2 3730547 3730547 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:3730547T>A uc010ewt.2 + 7 555 c.394T>A c.(394-396)TGG>AGG p.W132R NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 151 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) ATCCGACGACTGGAGTTACTT 0.423 NA HNSCC(21;0.051) 27 173 0 0 0.003954 0 0 RNF144A 9781 broad.mit.edu 37 2 7164598 7164598 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:7164598G>T uc002qys.2 + 7 1050 c.608G>T c.(607-609)TGC>TTC p.C203F RNF144A_uc002qyt.2_Missense_Mutation_p.C52F NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 203 RING-type 2; degenerate. Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) CAGATGATGTGCAAGAACTGC 0.537 NA 9 83 0.00621372 0.00663113 0.006214 1 0 C2orf48 348738 broad.mit.edu 37 2 10282453 10282453 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:10282453G>C uc002rai.1 + 3 433 c.144G>C c.(142-144)AGG>AGC p.R48S NM_182626 NP_872432 Q96LS8 CB048_HUMAN hypothetical protein LOC348738 48 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) tgcgtgtcaggtgttactcgg 0.035 NA 32 249 0 0 0.003755 0 0 TRIB2 28951 broad.mit.edu 37 2 12858618 12858618 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:12858618G>A uc002rbv.3 + 1 1621 c.185G>A c.(184-186)GGG>GAG p.G62E TRIB2_uc010yjp.1_Intron NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 62 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTTGTATCGGGAAATACTTA 0.577 NA OREG0014450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 79 0 0 0.003163 0 0 APOB 338 broad.mit.edu 37 2 21228933 21228933 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:21228933G>T uc002red.2 - 26 10935 c.10807C>A c.(10807-10809)CAT>AAT p.H3603N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3603 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGACTTGCATGGACCTGAACA 0.488 NA 17 46 1.15088e-07 1.50086e-07 0.004007 1 0 NCOA1 8648 broad.mit.edu 37 2 24929492 24929492 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:24929492C>A uc002rfk.2 + 11 1411 c.1153C>A c.(1153-1155)CGA>AGA p.R385R NCOA1_uc010eye.2_Silent_p.R385R|NCOA1_uc002rfi.2_Silent_p.R234R|NCOA1_uc002rfj.2_Silent_p.R385R|NCOA1_uc002rfl.2_Silent_p.R385R NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 385 Interaction with STAT3. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCAATTCCCCGAGTAAATCC 0.448 NA T PAX3 alveolar rhadomyosarcoma 8 47 0.000157383 0.000179756 0.00308 1 0 CENPA 1058 broad.mit.edu 37 2 27016122 27016122 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:27016122G>T uc002rhr.2 + 4 581 c.398G>T c.(397-399)CGG>CTG p.R133L CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Missense_Mutation_p.R107L NM_001809 NP_001800 P49450 CENPA_HUMAN centromere protein A isoform a 133 H3-like. CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome chromatin binding|DNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGAGGATCCGGGGCCTTGAG 0.557 Pancreas(28;769 878 30250 30578 41330) NA 88 188 5.5301e-39 9.38237e-39 0.00361 1 0 TCF23 150921 broad.mit.edu 37 2 27375715 27375715 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:27375715C>A uc010ylg.1 + 3 625 c.625C>A c.(625-627)CCA>ACA p.P209T NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN transcription factor 23 209 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCACTCTCACCAGCTCTTGG 0.537 NA 40 76 1.8453e-21 3.0137e-21 0.010771 1 0 GCKR 2646 broad.mit.edu 37 2 27730148 27730148 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:27730148G>T uc002rky.2 + 13 1179 c.1113G>T c.(1111-1113)ATG>ATT p.M371I GCKR_uc010ezd.2_Missense_Mutation_p.M369I|GCKR_uc010ylu.1_Missense_Mutation_p.M181I NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 371 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) ACAGTGACATGTTTAACCAGA 0.493 NA 39 372 3.21399e-22 5.26132e-22 0.004878 1 0 BIRC6 57448 broad.mit.edu 37 2 32689617 32689617 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:32689617C>T uc010ezu.2 + 25 5116 c.4982C>T c.(4981-4983)GCA>GTA p.A1661V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1661 Poly-Ala. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) Acaacagctgcagcagctgca 0.353 Pancreas(94;175 1509 16028 18060 45422) NA 6 8 0 0 0.001168 0 0 BIRC6 57448 broad.mit.edu 37 2 32726951 32726951 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:32726951G>T uc010ezu.2 + 47 9337 c.9203G>T c.(9202-9204)AGA>ATA p.R3068I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3068 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TATATGGGCAGACAAGTAAGT 0.343 Pancreas(94;175 1509 16028 18060 45422) NA 28 70 5.91797e-21 9.64256e-21 0.012213 1 0 BIRC6 57448 broad.mit.edu 37 2 32768471 32768471 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:32768471C>G uc010ezu.2 + 62 12589 c.12455C>G c.(12454-12456)CCC>CGC p.P4152R NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4152 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACCATGTCTCCCATACCTGCC 0.483 Pancreas(94;175 1509 16028 18060 45422) NA 24 309 0 0 0.008361 0 0 BIRC6 57448 broad.mit.edu 37 2 32768555 32768555 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:32768555A>T uc010ezu.2 + 62 12673 c.12539A>T c.(12538-12540)CAT>CTT p.H4180L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4180 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GAGAGAAAACATGCCCAGTGC 0.423 Pancreas(94;175 1509 16028 18060 45422) NA 41 80 0 0 0.006999 0 0 LTBP1 4052 broad.mit.edu 37 2 33505174 33505174 + Nonsense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:33505174C>T uc002ros.2 + 19 3064 c.3064C>T c.(3064-3066)CAG>TAG p.Q1022* LTBP1_uc002rot.2_Nonsense_Mutation_p.Q696*|LTBP1_uc002rou.2_Nonsense_Mutation_p.Q695*|LTBP1_uc002rov.2_Nonsense_Mutation_p.Q642*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.Q695*|LTBP1_uc010yna.1_Nonsense_Mutation_p.Q642* NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1021 EGF-like 7; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGGATCTTACCAGTGCGTTCC 0.433 NA 24 45 0 0 0.004656 0 0 RASGRP3 25780 broad.mit.edu 37 2 33774801 33774801 + Nonsense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:33774801G>T uc002rox.2 + 15 2152 c.1525G>T c.(1525-1527)GAA>TAA p.E509* RASGRP3_uc010ync.1_Nonsense_Mutation_p.E509*|RASGRP3_uc002roy.2_Nonsense_Mutation_p.E508* NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 509 Phorbol-ester/DAG-type. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) AACCTTCTGCGAACACTGTGC 0.388 NA 26 34 4.2108e-06 5.17284e-06 0.009535 1 0 HEATR5B 54497 broad.mit.edu 37 2 37289111 37289111 + Nonsense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:37289111C>T uc002rpp.1 - 11 1763 c.1667G>A c.(1666-1668)TGG>TAG p.W556* NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 556 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) AAGTAAAAGCCAGCCAGCTTG 0.373 NA 7 84 0 0 0.001984 0 0 THUMPD2 80745 broad.mit.edu 37 2 39982476 39982476 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:39982476C>A uc002rru.2 - 8 1074 c.1037G>T c.(1036-1038)GGC>GTC p.G346V THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.G237V NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 346 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) ATCCTCAAGGCCTGCAGCTTT 0.323 NA 9 29 1.08611e-07 1.4217e-07 0.010729 1 0 SLC8A1 6546 broad.mit.edu 37 2 40342676 40342676 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:40342676A>T uc002rrx.2 - 10 2663 c.2639T>A c.(2638-2640)CTG>CAG p.L880Q uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.L875Q|SLC8A1_uc002rrz.2_Missense_Mutation_p.L867Q|SLC8A1_uc002rsa.2_Missense_Mutation_p.L844Q|SLC8A1_uc002rsd.3_Missense_Mutation_p.L844Q NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 880 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACCGATTCCCAGGAAGACATT 0.567 NA 12 48 0 0 0.010729 0 0 NRXN1 9378 broad.mit.edu 37 2 50280416 50280416 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:50280416A>T uc010fbp.2 - 4 1733 c.926T>A c.(925-927)ATT>AAT p.I309N NRXN1_uc002rxb.3_Missense_Mutation_p.I1046N|NRXN1_uc010fbq.2_Missense_Mutation_p.I1414N|NRXN1_uc002rxe.3_Missense_Mutation_p.I1344N NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 309 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CACCTGGCTAATGGGTTCTTT 0.428 NA 7 89 0 0 0.001984 0 0 NRXN1 9378 broad.mit.edu 37 2 50280420 50280420 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:50280420G>T uc010fbp.2 - 4 1729 c.922C>A c.(922-924)CCC>ACC p.P308T NRXN1_uc002rxb.3_Missense_Mutation_p.P1045T|NRXN1_uc010fbq.2_Missense_Mutation_p.P1413T|NRXN1_uc002rxe.3_Missense_Mutation_p.P1343T NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 308 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGGCTAATGGGTTCTTTTGTC 0.438 NA 7 88 0.00307968 0.00334789 0.00308 1 0 NRXN1 9378 broad.mit.edu 37 2 50850508 50850508 + Nonsense_Mutation SNP C C A rs34326676 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:50850508C>A uc010fbq.2 - 6 2654 c.1177G>T c.(1177-1179)GGA>TGA p.G393* NRXN1_uc002rxb.3_Nonsense_Mutation_p.G40*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.G360*|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTAAACTTTCCATTCACAGGC 0.458 NA 8 55 5.18039e-06 6.31954e-06 0.00308 1 0 DYSF 8291 broad.mit.edu 37 2 71743361 71743361 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:71743361A>G uc002sie.2 + 8 1220 c.844A>G c.(844-846)ATC>GTC p.I282V DYSF_uc010feg.2_Missense_Mutation_p.I313V|DYSF_uc010feh.2_Missense_Mutation_p.I282V|DYSF_uc002sig.3_Missense_Mutation_p.I282V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.I282V|DYSF_uc010fef.2_Missense_Mutation_p.I313V|DYSF_uc010fei.2_Missense_Mutation_p.I313V|DYSF_uc010fek.2_Missense_Mutation_p.I314V|DYSF_uc010fej.2_Missense_Mutation_p.I283V|DYSF_uc010fel.2_Missense_Mutation_p.I283V|DYSF_uc010feo.2_Missense_Mutation_p.I314V|DYSF_uc010fem.2_Missense_Mutation_p.I283V|DYSF_uc010fen.2_Missense_Mutation_p.I314V|DYSF_uc002sif.2_Missense_Mutation_p.I283V NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 282 Cytoplasmic (Potential).|C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TGATGAGCCCATCTTTATCAC 0.428 NA 9 43 0 0 0.008291 0 0 CYP26B1 56603 broad.mit.edu 37 2 72359733 72359733 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:72359733T>C uc002sih.1 - 6 1162 c.1162A>G c.(1162-1164)AAA>GAA p.K388E CYP26B1_uc010yra.1_Missense_Mutation_p.K371E|CYP26B1_uc010yrb.1_Missense_Mutation_p.K313E NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 388 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 CTCCAGCCTTTGGGGATCTGG 0.632 NA 6 7 0 0 0.001168 0 0 NAT8 9027 broad.mit.edu 37 2 73868332 73868332 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:73868332G>C uc002sji.1 - 2 591 c.424C>G c.(424-426)CTC>GTC p.L142V NM_003960 NP_003951 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 142 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity ovary(1) 1 TCCACAAAGAGATGAAACAGC 0.557 NA 4 81 0 0 0.009096 0 0 REG3G 130120 broad.mit.edu 37 2 79255038 79255038 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:79255038G>T uc002snw.2 + 5 524 c.439G>T c.(439-441)GGG>TGG p.G147W REG3G_uc002snx.2_Missense_Mutation_p.G147W|REG3G_uc010ffu.2_Missense_Mutation_p.G101W NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 147 C-type lectin. acute-phase response extracellular region sugar binding 0 TGGCCACTGTGGGAGCCTGTC 0.488 NA 12 115 1.08611e-07 1.4217e-07 0.010729 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530357 80530357 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:80530357C>A uc002sok.1 - 2 858 c.588G>T c.(586-588)CAG>CAT p.Q196H CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 196 LRR 5.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GACTCTTGAGCTGATTGTATC 0.572 NA HNSCC(69;0.2) 7 102 2.0095e-06 2.50828e-06 0.001984 1 0 RNF103 7844 broad.mit.edu 37 2 86832183 86832183 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:86832183C>T uc002srn.2 - 4 1810 c.841G>A c.(841-843)GGC>AGC p.G281S VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.G142S|uc002sro.2_Intron NM_005667 NP_005658 O00237 RN103_HUMAN ring finger protein 103 281 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1) 1 TTATATATGCCAATATCTGTC 0.348 NA 13 23 0 0 0.001855 0 0 ZNF514 84874 broad.mit.edu 37 2 95815661 95815661 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:95815661C>A uc002sue.1 - 5 943 c.569G>T c.(568-570)GGG>GTG p.G190V ZNF514_uc002sud.1_Missense_Mutation_p.G263V NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTTGTTTCCCCCTAAAGTCTG 0.428 NA 29 194 5.77227e-19 9.25417e-19 0.008361 1 0 ADRA2B 151 broad.mit.edu 37 2 96781457 96781457 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:96781457C>A uc002svi.2 - 1 432 c.432G>T c.(430-432)TCG>TCT p.S144S NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 144 Helical; Name=4; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGGGCGGCAGCGAGATGACGG 0.682 NA 16 29 0.000422831 0.000472895 0.004007 1 0 ASTL 431705 broad.mit.edu 37 2 96798292 96798292 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:96798292G>T uc010yui.1 - 6 624 c.624C>A c.(622-624)AAC>AAA p.N208K NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 208 proteolysis metalloendopeptidase activity|zinc ion binding 0 GCAGGATCTCGTTCCAGTTGA 0.662 NA 24 45 9.95505e-16 1.53611e-15 0.002299 1 0 ZAP70 7535 broad.mit.edu 37 2 98354099 98354099 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:98354099G>T uc002syd.1 + 11 1660 c.1453G>T c.(1453-1455)GCA>TCA p.A485S ZAP70_uc002sye.1_Missense_Mutation_p.A375S|ZAP70_uc002syf.1_Missense_Mutation_p.A178S NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 485 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 CCTCTCCAAAGCACTGGGTGC 0.612 NA 5 43 0.00116845 0.00128016 0.001168 1 0 REV1 51455 broad.mit.edu 37 2 100038094 100038094 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:100038094A>G uc002tad.2 - 11 1910 c.1698T>C c.(1696-1698)GCT>GCC p.A566A REV1_uc002tac.2_Silent_p.A565A NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 566 UmuC. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 CACAACTGACAGCTTCAATGT 0.428 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 6 75 0 0 0.00308 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068613 103068613 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:103068613G>A uc002tbx.2 + 12 2256 c.1772G>A c.(1771-1773)GGG>GAG p.G591E IL18RAP_uc010fiz.2_Missense_Mutation_p.G449E NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 591 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 GAAACCACTGGGAGGAGCTCC 0.512 NA 23 141 0 0 0.00278 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300683 103300683 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:103300683G>T uc002tca.2 + 5 1455 c.1313G>T c.(1312-1314)CGA>CTA p.R438L NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 438 integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 GGAGGACTTCGAGGTGCCATC 0.438 NA 26 169 4.22769e-11 6.08057e-11 0.00632 1 0 SLC5A7 60482 broad.mit.edu 37 2 108626708 108626708 + Silent SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:108626708T>A uc002tdv.2 + 9 1410 c.1134T>A c.(1132-1134)GTT>GTA p.V378V SLC5A7_uc010ywm.1_Silent_p.V131V|SLC5A7_uc010fjj.2_Silent_p.V378V|SLC5A7_uc010ywn.1_Silent_p.V265V NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 378 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.V378I(1) ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) AAGAAATCGTTTGGGTTATGC 0.448 NA 9 54 0 0 0.006214 0 0 MARCO 8685 broad.mit.edu 37 2 119750829 119750829 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:119750829G>T uc002tln.1 + 16 1514 c.1382G>T c.(1381-1383)CGC>CTC p.R461L MARCO_uc010yyf.1_Missense_Mutation_p.R383L NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 461 SRCR.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 GTCTTCTGCCGCATGCTGGGT 0.547 GBM(8;18 374 7467 11269 32796) NA 32 165 2.80507e-11 4.04277e-11 0.012213 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125367443 125367443 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:125367443G>C uc002tno.2 + 12 2183 c.1819G>C c.(1819-1821)GAC>CAC p.D607H CNTNAP5_uc010flu.2_Missense_Mutation_p.D608H NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 607 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CTTCTACATCGACTCAGATGG 0.532 NA 11 59 0 0 0.008291 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125671823 125671823 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:125671823G>T uc002tno.2 + 24 4243 c.3879G>T c.(3877-3879)TTG>TTT p.L1293F CNTNAP5_uc010flu.2_Missense_Mutation_p.L1294F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1293 Cytoplasmic (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AAATTGACTTGCAAAACACAG 0.428 NA 7 45 8.12818e-05 9.37558e-05 0.001984 1 0 MYO7B 4648 broad.mit.edu 37 2 128324254 128324254 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:128324254T>A uc002top.2 + 5 375 c.322T>A c.(322-324)TTC>ATC p.F108I NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 108 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CGTCAACCCGTTCCAGGTGCT 0.627 NA 3 9 0 0 0.004672 0 0 FAM123C 205147 broad.mit.edu 37 2 131520185 131520185 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:131520185G>T uc002trw.2 + 2 730 c.540G>T c.(538-540)GAG>GAT p.E180D FAM123C_uc010fmv.2_Missense_Mutation_p.E180D|FAM123C_uc010fms.1_Missense_Mutation_p.E180D|FAM123C_uc010fmt.1_Missense_Mutation_p.E180D|FAM123C_uc010fmu.1_Missense_Mutation_p.E180D NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 180 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TGGCGGCCGAGGGGAAAAGCC 0.647 NA 4 68 2.56e-06 3.17277e-06 0.009096 1 0 LCT 3938 broad.mit.edu 37 2 136570111 136570111 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:136570111C>A uc002tuu.1 - 7 2134 c.2123G>T c.(2122-2124)GGC>GTC p.G708V NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 708 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TTGGGAGAAGCCTCCAATGGT 0.542 NA 10 70 1.76689e-08 2.38889e-08 0.006214 1 0 THSD7B 80731 broad.mit.edu 37 2 137872775 137872775 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:137872775G>A uc002tva.1 + 4 1188 c.1188G>A c.(1186-1188)ACG>ACA p.T396T THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.T286T NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GGCATGTGACGGGACCCGTGT 0.577 NA 5 34 0 0 0.000602 0 0 LRP1B 53353 broad.mit.edu 37 2 141607774 141607774 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:141607774G>A uc002tvj.1 - 29 5808 c.4836C>T c.(4834-4836)GAC>GAT p.D1612D LRP1B_uc010fnl.1_Silent_p.D794D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1612 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGCATCGAAGTCTATCACAG 0.368 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 7 108 0 0 0.001984 0 0 LRP1B 53353 broad.mit.edu 37 2 141641558 141641558 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:141641558C>T uc002tvj.1 - 25 4969 c.3997G>A c.(3997-3999)GGC>AGC p.G1333S LRP1B_uc010fnl.1_Missense_Mutation_p.G515S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1333 Extracellular (Potential).|LDL-receptor class B 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTAGCCAGGCCATGCTCCACA 0.473 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 10 69 0 0 0.006214 0 0 KYNU 8942 broad.mit.edu 37 2 143799619 143799619 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:143799619G>T uc002tvl.2 + 14 1406 c.1276G>T c.(1276-1278)GAC>TAC p.D426Y KYNU_uc010fnm.2_Missense_Mutation_p.D426Y NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 426 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CCCACAGTGTGACAAGCGGAA 0.269 NA 5 42 1.6384e-10 2.3183e-10 0.001984 1 0 RIF1 55183 broad.mit.edu 37 2 152318785 152318785 + Missense_Mutation SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:152318785T>G uc002txm.2 + 28 3387 c.3257T>G c.(3256-3258)CTG>CGG p.L1086R RIF1_uc002txl.2_Missense_Mutation_p.L1086R|RIF1_uc002txn.2_Missense_Mutation_p.L1086R|RIF1_uc002txo.2_Missense_Mutation_p.L1086R|RIF1_uc002txp.2_5'Flank NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1086 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TATAATAATCTGGATGTTTCC 0.289 NA 5 40 0 0 0.001984 0 0 SCN2A 6326 broad.mit.edu 37 2 166170433 166170433 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:166170433A>G uc002udc.2 + 10 1488 c.1198A>G c.(1198-1200)ACG>GCG p.T400A SCN2A_uc002udd.2_Missense_Mutation_p.T400A|SCN2A_uc002ude.2_Missense_Mutation_p.T400A NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 400 I. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) TGCTGGGAAAACGTACATGAT 0.348 NA 13 40 0 0 0.003163 0 0 SCN1A 6323 broad.mit.edu 37 2 166847946 166847946 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:166847946T>C uc010zcz.1 - 26 5824 c.5806A>G c.(5806-5808)ATC>GTC p.I1936V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1947 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCACCTTTGATTTTGTTTTTA 0.358 NA 24 44 0 0 0.004656 0 0 SCN1A 6323 broad.mit.edu 37 2 166848161 166848161 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:166848161A>G uc010zcz.1 - 26 5609 c.5591T>C c.(5590-5592)GTT>GCT p.V1864A NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1875 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTCTCCTAGAACCCGCTTTGT 0.468 NA 5 59 0 0 0.000602 0 0 SCN1A 6323 broad.mit.edu 37 2 166894432 166894432 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:166894432T>C uc010zcz.1 - 15 2785 c.2767A>G c.(2767-2769)ATG>GTG p.M923V SCN1A_uc002udo.3_Missense_Mutation_p.M803V|SCN1A_uc010fpk.2_Missense_Mutation_p.M775V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 934 II. voltage-gated sodium channel complex voltage-gated sodium channel activity p.M923I(1) ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AAGTCATTCATGTGCCAGCGT 0.507 NA 23 131 0 0 0.002299 0 0 XIRP2 129446 broad.mit.edu 37 2 168104362 168104362 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:168104362A>G uc002udx.2 + 8 6478 c.6460A>G c.(6460-6462)ACT>GCT p.T2154A XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T1979A|XIRP2_uc010fpq.2_Missense_Mutation_p.T1932A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'UTR NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1979 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAAAATATTAACTGATACACA 0.413 NA 5 29 0 0 0.000602 0 0 LRP2 4036 broad.mit.edu 37 2 170103295 170103295 + Missense_Mutation SNP C C A rs147058423 byFrequency TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:170103295C>A uc002ues.2 - 21 3323 c.3110G>T c.(3109-3111)AGA>ATA p.R1037I LRP2_uc010zdf.1_Missense_Mutation_p.R900I NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1037 LDL-receptor class A 8.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGGCACACATCTGCCATTTTT 0.473 NA 45 165 1.52319e-26 2.53349e-26 0.00874 1 0 PDK1 5163 broad.mit.edu 37 2 173451116 173451116 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:173451116G>A uc002uhr.2 + 9 1156 c.1056G>A c.(1054-1056)CTG>CTA p.L352L PDK1_uc010zdz.1_Silent_p.L197L|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Silent_p.L372L|PDK1_uc002uhs.2_Silent_p.L352L|PDK1_uc010zeb.1_Silent_p.L372L NM_002610 NP_002601 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase 1 precursor 352 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.12) CAGTGCCTCTGGTATGTTATC 0.453 NA Autosomal_Dominant_Polycystic_Kidney_Disease 4 43 0 0 0.009096 0 0 HOXD3 3232 broad.mit.edu 37 2 177033942 177033942 + Missense_Mutation SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:177033942T>G uc002ukt.1 + 2 276 c.100T>G c.(100-102)TAC>GAC p.Y34D NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 34 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) AGGCTATGGCTACAGCAAAAC 0.557 NA 8 98 0 0 0.00308 0 0 TTN 7273 broad.mit.edu 37 2 179434299 179434300 + Missense_Mutation DNP TA TA AT TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:179434299_179434300TA>AT uc010zfg.1 - 275 69079_69080 c.68855_68856TA>AT c.(68854-68856)ATA>AAT p.I22952N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16647N|TTN_uc010zfi.1_Missense_Mutation_p.I16580N|TTN_uc010zfj.1_Missense_Mutation_p.I16455N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23879 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) CCCTTATATTTATGATTTTCCT 0.416 NA 5 29 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179530103 179530103 + Splice_Site SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:179530103C>A uc010zfk.1 - 10 1029 c.481_splice c.e10+1 p.T161_splice TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 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) AGGTAACGTACTTTTCATACG 0.343 NA 13 64 1.5842e-08 2.15021e-08 0.001855 1 0 TTN 7273 broad.mit.edu 37 2 179567367 179567367 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:179567367G>T uc010zfg.1 - 104 26739 c.26515C>A c.(26515-26517)CGC>AGC p.R8839S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5500S|TTN_uc010fre.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9766 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) TTCTGTATGCGCTTTGTAAAC 0.393 NA 4 54 2.56e-06 3.17277e-06 0.009096 1 0 TTN 7273 broad.mit.edu 37 2 179593801 179593801 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:179593801A>G uc010zfg.1 - 62 15456 c.15232T>C c.(15232-15234)TCT>CCT p.S5078P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1739P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6005 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) CAGGTTATAGAAATAGGAGGA 0.393 NA 6 17 0 0 0.001984 0 0 DNAJC10 54431 broad.mit.edu 37 2 183605029 183605029 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:183605029C>G uc002uow.1 + 12 1406 c.991C>G c.(991-993)CTC>GTC p.L331V DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.L285V|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 331 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTTCTAGTTTCTCAACTCATT 0.249 Pancreas(56;860 1183 25669 35822 48585) NA 3 19 0 0 0.004672 0 0 FRZB 2487 broad.mit.edu 37 2 183699582 183699582 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:183699582G>T uc002upa.1 - 6 1190 c.972C>A c.(970-972)CGC>CGA p.R324R NM_001463 NP_001454 Q92765 SFRP3_HUMAN frizzled-related protein precursor 324 brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GGATTTAGTTGCGTGCTTGCC 0.428 NA 10 24 2.17888e-05 2.59904e-05 0.006214 1 0 ANKRD44 91526 broad.mit.edu 37 2 197873684 197873684 + Nonsense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:197873684T>A uc002uua.1 - 19 1998 c.1921A>T c.(1921-1923)AAA>TAA p.K641* ANKRD44_uc002utz.3_Nonsense_Mutation_p.K373* NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 666 protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTGGCATCTTTCACATCGACC 0.448 NA 39 125 0 0 0.00361 0 0 ECEL1 9427 broad.mit.edu 37 2 233345169 233345169 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:233345169C>G uc002vsv.2 - 17 2373 c.2168G>C c.(2167-2169)CGG>CCG p.R723P ECEL1_uc010fya.1_Missense_Mutation_p.R721P|ECEL1_uc010fyb.1_Missense_Mutation_p.R430P NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 723 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CTGCGACCGCCGCTTGATGCA 0.652 NA 9 45 0 0 0.010729 0 0 CHRND 1144 broad.mit.edu 37 2 233396061 233396061 + Splice_Site SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:233396061G>A uc002vsw.2 + 8 825 c.821_splice c.e8-1 p.S274_splice CHRND_uc010zmg.1_Splice_Site_p.S259_splice|CHRND_uc010fyc.2_Splice_Site_p.S147_splice|CHRND_uc010zmh.1_Splice_Site_p.G80_splice NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GGCTTCCCCAGGTGGTGAGAA 0.627 NA 4 64 0 0 0.009096 0 0 AGXT 189 broad.mit.edu 37 2 241808615 241808615 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:241808615A>T uc002waa.3 + 2 315 c.194A>T c.(193-195)CAG>CTG p.Q65L AGXT_uc010zoi.1_Missense_Mutation_p.Q65L NM_000030 NP_000021 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 65 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity 0 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GAAGGCATCCAGTACGTGTTC 0.622 NA 22 82 0 0 0.00278 0 0 FARP2 9855 broad.mit.edu 37 2 242429445 242429445 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:242429445C>G uc002wbi.1 + 22 2607 c.2490C>G c.(2488-2490)ATC>ATG p.I830M NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 830 PH 1. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) AGAAAACAATCGTGGTGGCAG 0.557 NA 14 38 0 0 0.003163 0 0 VPS16 64601 broad.mit.edu 37 20 2844701 2844701 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:2844701G>T uc002whe.2 + 16 1631 c.1583G>T c.(1582-1584)GGT>GTT p.G528V VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.G384V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.G214V|VPS16_uc002whi.2_5'UTR NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 528 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 CGAGCCTATGGTTGTGGCCGC 0.587 NA 9 72 6.81908e-15 1.04529e-14 0.00245 1 0 SLC4A11 83959 broad.mit.edu 37 20 3214271 3214271 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:3214271C>A uc002wig.2 - 6 714 c.666G>T c.(664-666)AAG>AAT p.K222N SLC4A11_uc010zqe.1_Missense_Mutation_p.K249N|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.K206N NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 222 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 TCTGTAGGGCCTTCATGGTAC 0.652 NSCLC(190;922 2139 10266 10292 38692) NA 4 37 0.00909568 0.00957512 0.009096 1 0 ADAM33 80332 broad.mit.edu 37 20 3653196 3653196 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:3653196G>C uc002wit.2 - 13 1476 c.1389C>G c.(1387-1389)TGC>TGG p.C463W ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.C463W|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.C463W|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.C195W NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 463 Extracellular (Potential).|Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 GGCAGCGCACGCAGCAGTCCC 0.652 NA 11 74 0 0 0.013537 0 0 CSTL1 128817 broad.mit.edu 37 20 23425464 23425464 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:23425464C>A uc002wte.2 + 4 633 c.387C>A c.(385-387)CTC>CTA p.L129L CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA NM_138283 NP_612140 Q9H114 CST1L_HUMAN cystatin-like 1 precursor 129 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0993)|Lung NSC(19;0.235) ATTTCCAGCTCTGGAACAATT 0.423 NA 22 41 4.72057e-08 6.30914e-08 0.003954 1 0 DLGAP4 22839 broad.mit.edu 37 20 35060432 35060433 + Missense_Mutation DNP CC CC AA rs144799810 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:35060432_35060433CC>AA uc002xff.2 + 3 747_748 c.312_313CC>AA c.(310-315)CTCCTG>CTAATG p.L105M DLGAP4_uc010zvp.1_Missense_Mutation_p.L105M NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 105 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCGCCAACCTCCTGGACCAGTT 0.639 NA 7 67 0 0 0.004672 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356308 37356308 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:37356308G>A uc002xjc.2 + 2 867 c.604G>A c.(604-606)GGC>AGC p.G202S NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 202 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CCCAACGCTGGGCGGCCGAGT 0.632 NA 7 31 0 0 0.001984 0 0 ACTR5 79913 broad.mit.edu 37 20 37384668 37384668 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:37384668G>C uc002xjd.2 + 5 1187 c.1162G>C c.(1162-1164)GAC>CAC p.D388H NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 388 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) GGATGTGGTAGACAGCAAGCC 0.542 NA 5 23 0 0 0.000602 0 0 PTPRT 11122 broad.mit.edu 37 20 41101140 41101140 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:41101140G>T uc002xkg.2 - 8 1400 c.1216C>A c.(1216-1218)CAG>AAG p.Q406K PTPRT_uc010ggj.2_Missense_Mutation_p.Q406K NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 406 Extracellular (Potential).|Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGCTCCCACTGCAGGGTCAGC 0.567 NA 5 37 1.23904e-05 1.49069e-05 0.000602 1 0 ZFP64 55734 broad.mit.edu 37 20 50781293 50781293 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:50781293C>T uc002xwl.2 - 4 801 c.452G>A c.(451-453)TGC>TAC p.C151Y ZFP64_uc002xwk.2_Missense_Mutation_p.C151Y|ZFP64_uc002xwm.2_Missense_Mutation_p.C149Y|ZFP64_uc002xwn.2_Missense_Mutation_p.C97Y NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTTGAATTGGCAACCTAAAAA 0.254 NA 6 25 0 0 0.004482 0 0 PCK1 5105 broad.mit.edu 37 20 56139650 56139650 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:56139650T>A uc002xyn.3 + 8 1462 c.1299T>A c.(1297-1299)TTT>TTA p.F433L PCK1_uc010zzm.1_Missense_Mutation_p.F116L NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 433 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GCATTATCTTTGGAGGCCGTA 0.562 NA 22 135 0 0 0.002299 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349510 58349510 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:58349510A>T uc002yau.2 + 7 1606 c.1139A>T c.(1138-1140)CAG>CTG p.Q380L PHACTR3_uc002yat.2_Missense_Mutation_p.Q377L|PHACTR3_uc010zzw.1_Missense_Mutation_p.Q339L|PHACTR3_uc002yav.2_Missense_Mutation_p.Q339L|PHACTR3_uc002yaw.2_Missense_Mutation_p.Q339L|PHACTR3_uc002yax.2_Missense_Mutation_p.Q269L NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 380 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CTTTTGTATCAGGACGAGGAG 0.507 NA 25 213 0 0 0.005443 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19775907 19775907 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr21:19775907A>T uc002ykw.2 - 1 64 c.33T>A c.(31-33)CAT>CAA p.H11Q NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 11 Cytoplasmic (Potential). proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TGAGAGAATGATGCCTAGAAG 0.393 NA 7 45 0 0 0.00308 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971197 45971197 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr21:45971197G>C uc002zfi.1 - 1 192 c.145C>G c.(145-147)CCA>GCA p.P49A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 49 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1) 1 CAGCTCACTGGGGTGCAGACC 0.701 NA 5 58 0 0 0.000602 0 0 POTEH 23784 broad.mit.edu 37 22 16267032 16267032 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr22:16267032C>A uc010gqp.2 - 9 1469 c.1417G>T c.(1417-1419)GGT>TGT p.G473C POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.G192C|POTEH_uc002zlj.1_Missense_Mutation_p.G308C NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 473 skin(1) 1 GCAGTGGCACCGTTAGTCAGG 0.408 NA 11 191 4.68919e-08 6.2792e-08 0.008291 1 0 PI4KA 5297 broad.mit.edu 37 22 21158629 21158629 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr22:21158629C>G uc002zsz.3 - 12 1477 c.1246G>C c.(1246-1248)GTC>CTC p.V416L PI4KA_uc010gsq.1_Missense_Mutation_p.V474L NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 416 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GCAATAATGACTTTGCTGGAC 0.507 GBM(136;1332 1831 3115 23601 50806) NA OREG0026326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 49 0 0 0.004482 0 0 BCR 613 broad.mit.edu 37 22 23627343 23627343 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr22:23627343G>C uc002zww.2 + 10 2957 c.2361G>C c.(2359-2361)TTG>TTC p.L787F BCR_uc002zwx.2_Missense_Mutation_p.L787F|BCR_uc011aiy.1_Missense_Mutation_p.L376F|BCR_uc010gtx.1_Missense_Mutation_p.L254F|BCR_uc002zwy.1_Missense_Mutation_p.L73F NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 787 PH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 TGGACGCTTTGAAGATCAAGA 0.562 NA T ABL1| FGFR1|JAK2 CML|ALL|AML 9 24 0 0 0.004482 0 0 MYO18B 84700 broad.mit.edu 37 22 26343716 26343716 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr22:26343716G>T uc003abz.1 + 36 5920 c.5670G>T c.(5668-5670)GCG>GCT p.A1890A MYO18B_uc003aca.1_Silent_p.A1771A|MYO18B_uc010guy.1_Silent_p.A1772A|MYO18B_uc010guz.1_Silent_p.A1770A|MYO18B_uc011aka.1_Silent_p.A1044A|MYO18B_uc011akb.1_Silent_p.A1403A NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1890 Tail.|Potential. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TTGAGAAGGCGGACCTCCTGA 0.567 NA 5 27 0.000602214 0.000667112 0.000602 1 0 ELFN2 114794 broad.mit.edu 37 22 37771374 37771374 + Silent SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr22:37771374G>C uc003asq.3 - 3 987 c.201C>G c.(199-201)CTC>CTG p.L67L NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 67 LRR 1.|Extracellular (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GCACGGCTTTGAGCTTGTTCT 0.592 NA 8 47 0 0 0.004482 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716360 50716360 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr22:50716360A>T uc003bkv.3 - 32 5076 c.4970T>A c.(4969-4971)TTC>TAC p.F1657Y PLXNB2_uc003bkt.1_Missense_Mutation_p.F449Y|PLXNB2_uc003bku.1_Missense_Mutation_p.F642Y NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1657 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GAAGTCGAAGAAGTACTTGAC 0.597 NA 21 56 0 0 0.008871 0 0 FGD5 152273 broad.mit.edu 37 3 14862143 14862143 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:14862143C>A uc003bzc.2 + 1 1675 c.1565C>A c.(1564-1566)ACG>AAG p.T522K FGD5_uc011avk.1_Missense_Mutation_p.T522K NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 522 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GTGGGAAAGACGCTTTTGTCA 0.612 NA 10 35 2.17888e-05 2.59904e-05 0.006214 1 0 ZNF385D 79750 broad.mit.edu 37 3 21706377 21706377 + Splice_Site SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:21706377C>A uc003cce.2 - 2 573 c.165_splice c.e2+1 p.A55_splice ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 CAGGTACTTACCGCATTGAAA 0.468 NA 20 73 1.50039e-11 2.17137e-11 0.012319 1 0 RARB 5915 broad.mit.edu 37 3 25622075 25622075 + Silent SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:25622075C>G uc011awl.1 + 5 735 c.669C>G c.(667-669)GGC>GGG p.G223G RARB_uc003cdi.1_Silent_p.G104G|RARB_uc003cdh.2_Silent_p.G216G NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 223 Ligand-binding. G->D: Greatly reduced transcriptional activation in the absence of hormone. Even gretaer reduction in transcriptional activation in the absence of hormone; when associated with I-222 or S-232. Great reduction in transcriptional activation in the absence of hormone; when associated with I-222 and S-232. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) TGGACCTGGGCCTCTGGGACA 0.498 NA 12 80 0 0 0.001855 0 0 STT3B 201595 broad.mit.edu 37 3 31617899 31617899 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:31617899G>C uc011axe.1 + 2 326 c.326G>C c.(325-327)AGA>ACA p.R109T STT3B_uc010hft.1_Missense_Mutation_p.R109T|STT3B_uc003cer.1_Missense_Mutation_p.R109T NM_178862 NP_849193 Q8TCJ2 STT3B_HUMAN source of immunodominant MHC-associated 109 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding 0 TTTAACTATAGATCAACACAT 0.313 NA 5 26 0 0 0.001984 0 0 GPD1L 23171 broad.mit.edu 37 3 32207310 32207310 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:32207310C>T uc003cew.2 + 8 1024 c.964C>T c.(964-966)CCA>TCA p.P322S NM_015141 NP_055956 Q8N335 GPD1L_HUMAN glycerol-3-phosphate dehydrogenase 1-like 322 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity 0 AACTAGGTTTCCATTGTTTAC 0.408 NA 16 58 0 0 0.008871 0 0 KBTBD5 131377 broad.mit.edu 37 3 42730470 42730470 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:42730470C>T uc003clv.1 + 4 1631 c.1531C>T c.(1531-1533)CGC>TGC p.R511C NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 511 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CCATGATGGCCGCATTATCGT 0.562 NA 9 44 0 0 0.004482 0 0 LAMB2 3913 broad.mit.edu 37 3 49168500 49168500 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:49168500G>C uc003cwe.2 - 7 1097 c.798C>G c.(796-798)ATC>ATG p.I266M LAMB2_uc003cwf.1_Missense_Mutation_p.I266M NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 266 Laminin N-terminal. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACTTCTCTCGGATCTCCCTCC 0.582 NA 5 75 0 0 0.00308 0 0 C3orf62 375341 broad.mit.edu 37 3 49308858 49308858 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:49308858T>C uc003cwn.2 - 3 762 c.559A>G c.(559-561)ATT>GTT p.I187V C3orf62_uc003cwm.2_Missense_Mutation_p.I36V|hsa-mir-4271|MI0015879_5'Flank NM_198562 NP_940964 Q6ZUJ4 CC062_HUMAN hypothetical protein LOC375341 187 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AATTCTTCAATAGTTCGGATG 0.378 NA 10 116 0 0 0.006214 0 0 SHQ1 55164 broad.mit.edu 37 3 72799747 72799747 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:72799747A>T uc003dpf.2 - 11 1529 c.1422T>A c.(1420-1422)GAT>GAA p.D474E SHQ1_uc010hod.2_Missense_Mutation_p.D385E NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 474 Ser-rich. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CTTGTTCTGAATCTGAGCCTG 0.473 NA 16 41 0 0 0.004007 0 0 ROBO1 6091 broad.mit.edu 37 3 78656193 78656193 + Splice_Site SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:78656193T>A uc003dqe.2 - 29 4644 c.4436_splice c.e29-1 p.D1479_splice ROBO1_uc003dqb.2_Splice_Site_p.D1440_splice|ROBO1_uc003dqc.2_Splice_Site_p.D1379_splice|ROBO1_uc003dqd.2_Splice_Site_p.D1434_splice|ROBO1_uc010hoh.2_Splice_Site_p.D671_splice|ROBO1_uc011bgl.1_Intron NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GTGGAAGATCTAAAAAGAAAC 0.418 NA 5 47 0 0 0.000602 0 0 CADM2 253559 broad.mit.edu 37 3 85932594 85932594 + Splice_Site SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:85932594G>T uc003dqj.2 + 3 990 c.364_splice c.e3+1 p.G122_splice CADM2_uc003dqk.2_Splice_Site_p.G131_splice|CADM2_uc003dql.2_Splice_Site_p.G124_splice NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACCGTTCTGGGTAAGTGCAAG 0.353 NA 8 28 0.000274275 0.000308229 0.004482 1 0 HTR1F 3355 broad.mit.edu 37 3 88040364 88040364 + Silent SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:88040364T>A uc003dqr.2 + 2 623 c.465T>A c.(463-465)TCT>TCA p.S155S NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 155 Helical; Name=4; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TTTTTATCTCTATGCCTCCTC 0.413 NA 7 19 0 0 0.00308 0 0 EPHA3 2042 broad.mit.edu 37 3 89259557 89259557 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:89259557C>A uc003dqy.2 + 3 926 c.701C>A c.(700-702)TCT>TAT p.S234Y EPHA3_uc003dqx.1_Missense_Mutation_p.S234Y|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 234 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTCAACAATTCTAAGGAGGAA 0.488 NA TSP Lung(6;0.00050) 20 73 1.37522e-17 2.15534e-17 0.007413 1 0 NDUFB4 4710 broad.mit.edu 37 3 120320105 120320105 + Splice_Site SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:120320105G>A uc003edu.2 + 2 406 c.327_splice c.e2+1 p.R109_splice NDUFB4_uc003edt.2_Missense_Mutation_p.V110I NM_004547 NP_004538 O95168 NDUB4_HUMAN NADH dehydrogenase (ubiquinone) 1 beta mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 GBM - Glioblastoma multiforme(114;0.14) NADH(DB00157) AACTGAGAGGGTAAGTATTCA 0.443 NA 11 140 0 0 0.013537 0 0 HEG1 57493 broad.mit.edu 37 3 124720857 124720857 + Splice_Site SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:124720857C>A uc003ehs.3 - 11 3425 c.3357_splice c.e11-1 p.R1119_splice HEG1_uc003ehr.3_Translation_Start_Site|HEG1_uc011bke.1_Splice_Site_p.R1219_splice NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor extracellular region|integral to membrane calcium ion binding ovary(2) 2 GTTGGACTCCCTATAGGCAAA 0.493 NA 7 23 8.12818e-05 9.37558e-05 0.001984 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125876315 125876315 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:125876315G>T uc003eim.1 - 4 589 c.399C>A c.(397-399)TCC>TCA p.S133S ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.S159S|ALDH1L1_uc003eip.1_Silent_p.S42S|ALDH1L1_uc011bkj.1_5'UTR NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 133 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCCAGAAGATGGAAAACCCCC 0.577 NA 9 59 3.86212e-05 4.52198e-05 0.008291 1 0 DNAJB8 165721 broad.mit.edu 37 3 128181837 128181837 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:128181837G>T uc003ekk.1 - 3 1913 c.252C>A c.(250-252)CAC>CAA p.H84Q uc003ekl.1_5'Flank NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN DnaJ homolog, subfamily B, member 8 84 protein folding heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(114;0.177) CGAAGGGGCTGTGGTAGGGCG 0.602 NA 12 57 7.93312e-07 1.00457e-06 0.00245 1 0 CCDC48 79825 broad.mit.edu 37 3 128758690 128758690 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:128758690G>A uc011bkt.1 + 8 1796 c.1796G>A c.(1795-1797)TGA>TAA p.*599* NM_024768 NP_079044 Q9HA90 CCD48_HUMAN coiled-coil domain containing 48 599 0 GTCTCCTGCTGAGGTTACTGG 0.647 NA 7 47 0 0 0.006214 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281150 140281150 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:140281150G>T uc003etn.2 + 13 2402 c.2212G>T c.(2212-2214)GGT>TGT p.G738C NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 738 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CTCCATCTACGGTAAGGCCAC 0.552 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 6 36 3.59834e-05 4.23441e-05 0.001168 1 0 CHST2 9435 broad.mit.edu 37 3 142841065 142841065 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:142841065C>A uc003evm.2 + 2 2296 c.1407C>A c.(1405-1407)TTC>TTA p.F469L NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 469 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 CCAAGCCTTTCGTGGTATCTG 0.582 NA 13 41 1.05317e-09 1.47825e-09 0.00245 1 0 SLC9A9 285195 broad.mit.edu 37 3 142985603 142985603 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:142985603C>A uc003evn.2 - 16 2061 c.1879G>T c.(1879-1881)GGC>TGC p.G627C NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 627 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CCTCCCAGGCCGAGGTCTCCC 0.498 NA 17 62 3.32936e-07 4.28586e-07 0.006122 1 0 ZIC4 84107 broad.mit.edu 37 3 147120537 147120537 + Nonsense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:147120537G>T uc003ewd.1 - 2 321 c.48C>A c.(46-48)TAC>TAA p.Y16* ZIC4_uc011bno.1_Nonsense_Mutation_p.Y66* NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 16 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GAGTGTTTCGGTAAAGCCGTA 0.323 NA 12 84 3.27435e-08 4.40149e-08 0.00245 1 0 OTOL1 131149 broad.mit.edu 37 3 161221370 161221371 + Missense_Mutation DNP CC CC TT TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:161221370_161221371CC>TT uc011bpb.1 + 4 1074_1075 c.1074_1075CC>TT c.(1072-1077)ATCCCC>ATTTCC p.P359S NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 359 C1q. collagen 0 CTCCTAACATCCCCATCAAATT 0.47 NA 7 26 0 0 0.004672 0 0 ZBBX 79740 broad.mit.edu 37 3 167045743 167045743 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:167045743A>T uc003fep.2 - 11 1172 c.849T>A c.(847-849)CAT>CAA p.H283Q ZBBX_uc011bpc.1_Missense_Mutation_p.H283Q|ZBBX_uc003feq.2_Missense_Mutation_p.H254Q NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 283 intracellular zinc ion binding ovary(2) 2 TTACTGCTGCATGTAAATTCT 0.249 NA 10 59 0 0 0.006214 0 0 ABCC5 10057 broad.mit.edu 37 3 183645220 183645220 + Silent SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:183645220T>A uc003fmg.2 - 28 4110 c.3945A>T c.(3943-3945)CTA>CTT p.L1315L ABCC5_uc011bqt.1_Silent_p.L843L|ABCC5_uc010hxl.2_Silent_p.L1272L NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1315 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTTTCAGAGGTAGCTGAGCAA 0.453 NA 10 15 0 0 0.006214 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039223 184039223 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:184039223C>G uc003fnp.2 + 10 1049 c.851C>G c.(850-852)TCT>TGT p.S284C EIF4G1_uc003fno.1_Missense_Mutation_p.S225C|EIF4G1_uc010hxw.1_Missense_Mutation_p.S120C|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.S197C|EIF4G1_uc003fnr.2_Missense_Mutation_p.S120C|EIF4G1_uc010hxx.2_Missense_Mutation_p.S291C|EIF4G1_uc003fns.2_Missense_Mutation_p.S244C|EIF4G1_uc010hxy.2_Missense_Mutation_p.S291C|EIF4G1_uc003fnv.3_Missense_Mutation_p.S284C|EIF4G1_uc003fnu.3_Missense_Mutation_p.S284C|EIF4G1_uc003fnw.2_Missense_Mutation_p.S291C|EIF4G1_uc003fnx.2_Missense_Mutation_p.S88C|EIF4G1_uc003fny.3_Missense_Mutation_p.S88C NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 284 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCAGTCCTCTCTATTCCTGGG 0.542 NA 8 56 0 0 0.006214 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039251 184039251 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr3:184039251A>G uc003fnp.2 + 10 1077 c.879A>G c.(877-879)ATA>ATG p.I293M EIF4G1_uc003fno.1_Missense_Mutation_p.I234M|EIF4G1_uc010hxw.1_Missense_Mutation_p.I129M|EIF4G1_uc003fnt.2_Missense_Mutation_p.I4M|EIF4G1_uc003fnq.2_Missense_Mutation_p.I206M|EIF4G1_uc003fnr.2_Missense_Mutation_p.I129M|EIF4G1_uc010hxx.2_Missense_Mutation_p.I300M|EIF4G1_uc003fns.2_Missense_Mutation_p.I253M|EIF4G1_uc010hxy.2_Missense_Mutation_p.I300M|EIF4G1_uc003fnv.3_Missense_Mutation_p.I293M|EIF4G1_uc003fnu.3_Missense_Mutation_p.I293M|EIF4G1_uc003fnw.2_Missense_Mutation_p.I300M|EIF4G1_uc003fnx.2_Missense_Mutation_p.I97M|EIF4G1_uc003fny.3_Missense_Mutation_p.I97M NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 293 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGACAACTATACAAATGTCTG 0.547 NA 10 45 0 0 0.006214 0 0 FGFBP2 83888 broad.mit.edu 37 4 15964478 15964478 + Nonsense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:15964478C>T uc003gon.2 - 1 382 c.275G>A c.(274-276)TGG>TAG p.W92* NM_031950 NP_114156 Q9BYJ0 FGFP2_HUMAN killer-specific secretory protein of 37 kDa 92 extracellular space growth factor binding 0 GGCTTGATTCCAGTAAGGTTT 0.637 NA 13 48 0 0 0.001855 0 0 ANAPC4 29945 broad.mit.edu 37 4 25382048 25382048 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:25382048A>G uc003gro.2 + 3 311 c.182A>G c.(181-183)AAT>AGT p.N61S ANAPC4_uc003grp.2_5'Flank NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 61 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) TTTCCACCAAATGAAAATACA 0.343 NA 9 34 0 0 0.006214 0 0 UGDH 7358 broad.mit.edu 37 4 39512309 39512309 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:39512309G>A uc003guk.1 - 4 753 c.437C>T c.(436-438)GCA>GTA p.A146V UGDH_uc011byp.1_Missense_Mutation_p.A49V|UGDH_uc003gul.1_Intron NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 146 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) TTTTGTGTTTGCATCAAATAT 0.368 NA 21 61 0 0 0.00278 0 0 YIPF7 285525 broad.mit.edu 37 4 44638050 44638050 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:44638050G>T uc010ifx.1 - 3 258 c.241C>A c.(241-243)CTC>ATC p.L81I YIPF7_uc010ify.1_Missense_Mutation_p.L81I NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 81 endoplasmic reticulum membrane|integral to membrane 0 GATGACATGAGCATCTCTGAT 0.408 NA 10 25 2.17888e-05 2.59904e-05 0.006214 1 0 GABRB1 2560 broad.mit.edu 37 4 47034433 47034433 + Splice_Site SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:47034433G>T uc003gxh.2 + 3 547 c.173_splice c.e3-1 p.G58_splice GABRB1_uc011bze.1_Intron|GABRB1_uc011bzd.1_Splice_Site_p.G58_splice|GABRB1_uc010igg.2_Splice_Site NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CTCCCCGGCAGGGCCCCCCGT 0.627 NA 34 155 3.62531e-18 5.74623e-18 0.004289 1 0 GABRB1 2560 broad.mit.edu 37 4 47408916 47408916 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:47408916G>T uc003gxh.2 + 8 1427 c.1053G>T c.(1051-1053)AAG>AAT p.K351N GABRB1_uc011bze.1_Missense_Mutation_p.K281N NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 351 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCAATGAGAAGAATAAACTGG 0.393 NA 9 17 5.4927e-09 7.55787e-09 0.004482 1 0 PDGFRA 5156 broad.mit.edu 37 4 55127576 55127576 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:55127576C>A uc003han.3 + 3 695 c.364C>A c.(364-366)CCA>ACA p.P122T PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.P122T|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 122 Extracellular (Potential).|Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CATCTATGTGCCAGGTGAGTT 0.428 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 41 105 6.2361e-21 1.01373e-20 0.007835 1 0 LPHN3 23284 broad.mit.edu 37 4 62897253 62897253 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:62897253G>A uc010ihh.2 + 20 3485 c.3312G>A c.(3310-3312)ATG>ATA p.M1104I LPHN3_uc003hcq.3_Missense_Mutation_p.M1104I|LPHN3_uc003hct.2_Missense_Mutation_p.M488I NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1082 Helical; Name=7; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CAGTCATCATGGCCTATCTCT 0.368 NA 3 17 0 0 0.004672 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361447 70361447 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:70361447C>T uc003hek.3 - 1 180 c.133G>A c.(133-135)GAA>AAA p.E45K UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.E45K NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 45 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TGGACAAGTTCATCCAGGATT 0.448 NA 24 84 0 0 0.005443 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361573 70361573 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:70361573T>A uc003hek.3 - 1 54 c.7A>T c.(7-9)ATG>TTG p.M3L UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.M3L NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 3 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 GTCCATTTCATAGACATCCTG 0.443 NA 22 121 0 0 0.002299 0 0 SLC4A4 8671 broad.mit.edu 37 4 72332163 72332163 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:72332163C>A uc003hfy.2 + 13 1617 c.1500C>A c.(1498-1500)GGC>GGA p.G500G SLC4A4_uc010iic.2_Silent_p.G500G|SLC4A4_uc010iib.2_Silent_p.G500G|SLC4A4_uc003hfz.2_Silent_p.G500G|SLC4A4_uc003hgc.3_Silent_p.G456G|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Silent_p.G378G|SLC4A4_uc003hgb.3_Silent_p.G456G NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 500 Extracellular (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TATTTTAGGGCGTGTTGGAGA 0.413 NA 14 115 1.5739e-10 2.23609e-10 0.004007 1 0 CDS1 1040 broad.mit.edu 37 4 85560132 85560132 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:85560132T>A uc011ccv.1 + 9 1364 c.866T>A c.(865-867)GTG>GAG p.V289E CDS1_uc010ike.1_Missense_Mutation_p.V93E NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 289 Helical; (Potential). signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) TCCACAGTTGTGTTTGGATTC 0.299 NA 9 20 0 0 0.006214 0 0 PDHA2 5161 broad.mit.edu 37 4 96762200 96762200 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:96762200G>T uc003htr.3 + 1 962 c.899G>T c.(898-900)CGT>CTT p.R300L NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 300 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GTCAGTTATCGTACACGAGAA 0.433 NA 14 69 2.61681e-11 3.77924e-11 0.00245 1 0 ADH4 127 broad.mit.edu 37 4 100052734 100052734 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:100052734G>T uc003hun.2 - 6 840 c.764C>A c.(763-765)CCG>CAG p.P255Q uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.P274Q NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 255 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) TTCCTGGATCGGTTTATGTAA 0.443 NA 13 25 0.00010058 0.000115634 0.013537 1 0 NHEDC1 150159 broad.mit.edu 37 4 103822347 103822347 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:103822347C>A uc003hww.2 - 12 1597 c.1475G>T c.(1474-1476)GGG>GTG p.G492V NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.G265V NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 492 Helical; (Potential). integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) CATTTTAGGCCCCAGAATGCC 0.423 NA 8 159 0.00448238 0.00482771 0.004482 1 0 BDH2 56898 broad.mit.edu 37 4 104004086 104004086 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:104004086C>A uc003hwz.2 - 8 638 c.533G>T c.(532-534)GGA>GTA p.G178V BDH2_uc003hxa.2_RNA NM_020139 NP_064524 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 178 fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) ATCAACTGTTCCTAAATCAAA 0.343 NA 44 73 7.90463e-13 1.16815e-12 0.00361 1 0 ANK2 287 broad.mit.edu 37 4 114208779 114208779 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:114208779C>T uc003ibe.3 + 19 2198 c.2098C>T c.(2098-2100)CAC>TAC p.H700Y ANK2_uc003ibd.3_Missense_Mutation_p.H679Y|ANK2_uc003ibf.3_Missense_Mutation_p.H700Y|ANK2_uc003ibc.2_Missense_Mutation_p.H676Y|ANK2_uc011cgb.1_Missense_Mutation_p.H715Y NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 700 ANK 21. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CACATCCTTACACCTTGCAGC 0.373 NA 10 34 0 0 0.010729 0 0 UGT8 7368 broad.mit.edu 37 4 115544547 115544547 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:115544547C>T uc003ibs.2 + 2 1033 c.511C>T c.(511-513)CCT>TCT p.P171S UGT8_uc003ibt.2_Missense_Mutation_p.P171S|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 171 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AGTGGGTGCTCCTGCTCCATT 0.443 NA 15 69 0 0 0.003163 0 0 NDST4 64579 broad.mit.edu 37 4 115749058 115749058 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:115749058G>T uc003ibu.2 - 14 3212 c.2533C>A c.(2533-2535)CAT>AAT p.H845N NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 845 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCCACATTATGATCTCGGTAG 0.413 NA 4 19 0.00909568 0.00957512 0.009096 1 0 FAT4 79633 broad.mit.edu 37 4 126240578 126240578 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:126240578C>T uc003ifj.3 + 1 3012 c.3012C>T c.(3010-3012)ACC>ACT p.T1004T NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1004 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATGAAGTCACCCTTTCTGAGT 0.408 NA 8 107 0 0 0.00308 0 0 PCDH10 57575 broad.mit.edu 37 4 134071449 134071449 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:134071449G>T uc003iha.2 + 1 980 c.154G>T c.(154-156)GGG>TGG p.G52W uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G52W NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 52 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TTCGGCTCGCGGGTTTCAGAC 0.522 NA 25 69 4.7796e-09 6.60265e-09 0.004656 1 0 DCHS2 54798 broad.mit.edu 37 4 155295093 155295093 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:155295093C>A uc003inw.2 - 4 441 c.441G>T c.(439-441)ATG>ATT p.M147I DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 147 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTAAATGTGTCATTCTCTGCT 0.338 NA 8 32 6.40141e-05 7.44523e-05 0.010729 1 0 GALNTL6 442117 broad.mit.edu 37 4 173804035 173804035 + Nonsense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:173804035G>T uc003isv.2 + 8 1754 c.1018G>T c.(1018-1020)GAA>TAA p.E340* NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 340 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 CTGGGGAGGAGAACAGTATGA 0.423 NA 21 89 7.87624e-14 1.18909e-13 0.00278 1 0 GPM6A 2823 broad.mit.edu 37 4 176622815 176622815 + Silent SNP A A C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:176622815A>C uc003iuf.2 - 2 945 c.141T>G c.(139-141)GGT>GGG p.G47G GPM6A_uc011ckj.1_Silent_p.G40G|GPM6A_uc003iug.2_Silent_p.G47G|GPM6A_uc003iuh.2_Silent_p.G36G NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 47 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) GCGCTTCATGACCGCAGCCAC 0.493 NA 16 93 0 0 0.004007 0 0 ASB5 140458 broad.mit.edu 37 4 177136756 177136756 + Nonsense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:177136756G>A uc003iuq.1 - 7 1001 c.985C>T c.(985-987)CGA>TGA p.R329* ASB5_uc003iup.1_Nonsense_Mutation_p.R276* NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 329 SOCS box. 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) CTGTTTTATCGATACTGTAAG 0.328 NA 4 30 0 0 0.000602 0 0 CYP4V2 285440 broad.mit.edu 37 4 187115681 187115681 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:187115681C>G uc003iyw.3 + 2 546 c.242C>G c.(241-243)ACA>AGA p.T81R NM_207352 NP_997235 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily v, 81 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) ATTGAGTACACAGAGGAATAC 0.353 NA 18 62 0 0 0.007413 0 0 FAT1 2195 broad.mit.edu 37 4 187557842 187557842 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr4:187557842C>A uc003izf.2 - 5 4057 c.3869G>T c.(3868-3870)AGC>ATC p.S1290I NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1290 Extracellular (Potential).|Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTCTTCGATGCTGTAGGAGAT 0.493 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 50 282 1.83081e-24 3.02538e-24 0.00361 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 163534 163534 + Missense_Mutation SNP C C A rs144505991 byFrequency TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:163534C>A uc003jak.2 + 11 2329 c.2279C>A c.(2278-2280)ACT>AAT p.T760N NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 760 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GTAACCAGCACTGTAGCCACA 0.627 NA 66 72 1.02487e-32 1.73459e-32 0.00361 1 0 LPCAT1 79888 broad.mit.edu 37 5 1474683 1474683 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:1474683C>A uc003jcm.2 - 10 1134 c.1017G>T c.(1015-1017)CGG>CGT p.R339R NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 339 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) ACCCGAGGCCCCGCACGAGCC 0.612 NA 9 22 1.12685e-05 1.36275e-05 0.004482 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5232586 5232586 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:5232586G>A uc003jdl.2 + 12 1945 c.1807G>A c.(1807-1809)GGA>AGA p.G603R ADAMTS16_uc003jdk.1_Missense_Mutation_p.G603R|ADAMTS16_uc010itk.1_5'Flank NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 603 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CAGGACCTGCGGAGGGGGAGT 0.567 NA 59 84 0 0 0.00361 0 0 KIAA0947 23379 broad.mit.edu 37 5 5454709 5454709 + Missense_Mutation SNP A A T rs34789072 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:5454709A>T uc003jdm.3 + 11 871 c.649A>T c.(649-651)ACA>TCA p.T217S NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 217 ovary(1)|central_nervous_system(1) 2 CTGTGTAAACACAACACACAG 0.453 NA 5 27 0 0 0.001168 0 0 TRIO 7204 broad.mit.edu 37 5 14462918 14462918 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:14462918G>T uc003jff.2 + 36 5557 c.5551G>T c.(5551-5553)GGG>TGG p.G1851W TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.G1500W|TRIO_uc003jfi.1_Missense_Mutation_p.G154W NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1851 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CTCCTCCTCGGGGATGCAGAG 0.612 NA 82 79 8.6838e-40 1.48048e-39 0.00361 1 0 PDZD2 23037 broad.mit.edu 37 5 32037441 32037441 + Silent SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:32037441C>G uc003jhl.2 + 7 1900 c.1512C>G c.(1510-1512)CGC>CGG p.R504R PDZD2_uc003jhm.2_Silent_p.R504R|PDZD2_uc011cnx.1_Silent_p.R330R NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 504 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TCAAGAGTCGCCTTTCAGGTA 0.542 NA 23 19 0 0 0.00278 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965971 35965971 + Missense_Mutation SNP T T A rs144943338 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:35965971T>A uc003jjv.1 - 4 517 c.360A>T c.(358-360)CAA>CAT p.Q120H UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.Q120H|UGT3A1_uc011cor.1_Missense_Mutation_p.Q86H|UGT3A1_uc003jjy.1_Missense_Mutation_p.Q66H NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 120 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATAACTACATTGAGTCCCAA 0.289 NA 8 61 0 0 0.008291 0 0 SLC1A3 6507 broad.mit.edu 37 5 36684013 36684013 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:36684013C>A uc003jkj.3 + 9 1813 c.1337C>A c.(1336-1338)GCG>GAG p.A446E SLC1A3_uc011cox.1_Missense_Mutation_p.A339E|SLC1A3_uc010iuy.2_Intron NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 446 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) ATTCCTCAGGCGGGCCTGGTC 0.532 NA 23 80 1.64293e-13 2.4644e-13 0.00333 1 0 C7 730 broad.mit.edu 37 5 40964941 40964941 + Missense_Mutation SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:40964941T>G uc003jmh.2 + 14 1962 c.1848T>G c.(1846-1848)GAT>GAG p.D616E C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 616 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GTGGAGAAGATTTACGGTGGC 0.403 NA 18 167 0 0 0.012319 0 0 DDX4 54514 broad.mit.edu 37 5 55059044 55059044 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:55059044G>T uc003jqg.3 + 5 321 c.247G>T c.(247-249)GGT>TGT p.G83C DDX4_uc010ivz.2_Missense_Mutation_p.G83C|DDX4_uc003jqh.3_Missense_Mutation_p.G83C NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 83 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ATCCACAATGGGTGGTTTTGG 0.318 NA 3 29 0.00024832 0.000280413 0.009096 1 0 RAD17 5884 broad.mit.edu 37 5 68695997 68695997 + Splice_Site SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:68695997G>A uc003jwo.2 + 14 1788 c.1726_splice c.e14+1 p.A576_splice RAD17_uc003jwg.2_Splice_Site_p.A565_splice|RAD17_uc003jwh.2_Splice_Site_p.A565_splice|RAD17_uc003jwi.2_Splice_Site_p.A565_splice|RAD17_uc003jwj.2_Splice_Site_p.A565_splice|RAD17_uc003jwk.2_Splice_Site_p.A565_splice|RAD17_uc003jwl.2_Splice_Site_p.A565_splice|RAD17_uc003jwm.2_Splice_Site_p.A400_splice|RAD17_uc003jwn.2_Splice_Site_p.A479_splice|RAD17_uc003jwp.2_Splice_Site_p.A136_splice NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AGAAATCAAGGTAATAACATA 0.234 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 6 28 0 0 0.001168 0 0 SV2C 22987 broad.mit.edu 37 5 75581080 75581080 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:75581080C>A uc003kei.1 + 5 1141 c.1007C>A c.(1006-1008)GCC>GAC p.A336D NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 336 Helical; (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCCGTGGTGGCCCTCACATTC 0.502 NA 17 96 0.000132079 0.000151598 0.008871 1 0 RASGRF2 5924 broad.mit.edu 37 5 80369242 80369242 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:80369242C>T uc003kha.1 + 5 858 c.858C>T c.(856-858)CAC>CAT p.H286H RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.H114H NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 286 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCATCAGCCACGACGACGTCA 0.463 NA 3 42 0 0 0.000602 0 0 PCSK1 5122 broad.mit.edu 37 5 95748052 95748052 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:95748052G>T uc003kls.1 - 7 1058 c.852C>A c.(850-852)GCC>GCA p.A284A PCSK1_uc010jbi.1_Silent_p.A45A NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 284 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGCCTTCTGGGCTAGCCGGC 0.473 NA 15 77 4.93089e-13 7.33339e-13 0.00245 1 0 STARD4 134429 broad.mit.edu 37 5 110843034 110843034 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:110843034T>A uc003kph.1 - 2 182 c.98A>T c.(97-99)AAG>ATG p.K33M STARD4_uc010jbw.1_Translation_Start_Site|STARD4_uc010jbx.1_Intron|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Missense_Mutation_p.K33M NM_139164 NP_631903 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain 33 START. lipid transport lipid binding ovary(1) 1 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) TACCGTTTTCTTAGCAACTCG 0.328 NA 5 32 0 0 0.000602 0 0 AQPEP 206338 broad.mit.edu 37 5 115335492 115335492 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:115335492A>G uc003kro.2 + 7 1572 c.1408A>G c.(1408-1410)ATC>GTC p.I470V AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 470 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 TTTACATAATATCCTCAGAGA 0.378 NA 5 39 0 0 0.001168 0 0 FNIP1 96459 broad.mit.edu 37 5 131007483 131007483 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:131007483C>A uc003kvs.1 - 14 2796 c.2654G>T c.(2653-2655)TGT>TTT p.C885F RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.C857F|FNIP1_uc010jdm.1_Missense_Mutation_p.C840F NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 885 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TATACATTTACAAAATTCATT 0.348 NA 3 33 0.004672 0.00500111 0.004672 1 0 ACSL6 23305 broad.mit.edu 37 5 131312363 131312363 + Nonsense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:131312363G>C uc010jdo.1 - 10 976 c.893C>G c.(892-894)TCA>TGA p.S298* ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Nonsense_Mutation_p.S323*|ACSL6_uc003kvy.1_Nonsense_Mutation_p.S323*|ACSL6_uc003kwb.2_Nonsense_Mutation_p.S288*|ACSL6_uc003kvz.1_Nonsense_Mutation_p.S263*|ACSL6_uc003kwa.1_Nonsense_Mutation_p.S309*|ACSL6_uc003kvw.1_5'Flank|ACSL6_uc010jdn.1_Nonsense_Mutation_p.S313*|ACSL6_uc010jdp.1_RNA NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 298 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGAAAGCCTGAGAAATCAGC 0.423 NA 8 60 0 0 0.008291 0 0 TRPC7 57113 broad.mit.edu 37 5 135692748 135692748 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:135692748G>T uc003lbn.1 - 1 328 c.325C>A c.(325-327)CTG>ATG p.L109M TRPC7_uc010jef.1_Missense_Mutation_p.L101M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.L101M|TRPC7_uc010jei.1_Missense_Mutation_p.L101M|TRPC7_uc010jej.1_Translation_Start_Site NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 110 Cytoplasmic (Potential).|ANK 3. axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCCAGCAGCAGCGCGTCCCCC 0.672 NA 12 38 1.08611e-07 1.4217e-07 0.010729 1 0 CDC23 8697 broad.mit.edu 37 5 137542338 137542338 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:137542338G>A uc003lcl.2 - 3 301 c.270C>T c.(268-270)GCC>GCT p.A90A CDC23_uc003lcm.1_Silent_p.A90A NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN cell division cycle protein 23 90 TPR 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGTAGGCCTTGGCCAGGGTAT 0.403 NA 9 73 0 0 0.008291 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208228 140208228 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:140208228A>G uc003lho.2 + 1 579 c.552A>G c.(550-552)ATA>ATG p.I184M 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_Missense_Mutation_p.I184M|PCDHA6_uc011dab.1_Missense_Mutation_p.I184M NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 184 Cadherin 2.|Extracellular (Potential). 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) ATGTGAAAATAAACAGTGATG 0.438 NA 37 71 0 0 0.004878 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475997 140475997 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:140475997G>A uc003lil.2 + 1 1761 c.1623G>A c.(1621-1623)CCG>CCA p.P541P PCDHB2_uc003lim.1_Silent_p.P202P NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 541 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCTCCCCGGCGTTGAGCA 0.697 NA 14 51 0 0 0.00245 0 0 PCDHB17 54661 broad.mit.edu 37 5 140536820 140536820 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:140536820G>T uc003lis.2 + 1 1241 c.1241G>T c.(1240-1242)AGG>ATG p.R414M NR_001280 SubName: Full=Protocadherin-psi1; 0 AGAGAGAGCAGGGCCGAGTAC 0.473 NA 7 29 0.000157383 0.000179756 0.00308 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140744720 140744720 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:140744720G>A uc003lju.1 + 1 823 c.823G>A c.(823-825)GGG>AGG p.G275R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.G275R NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 275 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAATAAACGGGAAATTGAC 0.478 NA 6 34 0 0 0.001168 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755658 140755658 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:140755658G>T uc003ljy.1 + 1 2008 c.2008G>T c.(2008-2010)GAC>TAC p.D670Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.D670Y NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 670 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGATCCCCGACATCCTGGC 0.692 NA 10 45 0.00829132 0.00880795 0.008291 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140811758 140811758 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:140811758G>C uc003lkt.1 + 1 1601 c.1432G>C c.(1432-1434)GAC>CAC p.D478H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D478H NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 478 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCGCCCACGACCCCGACTG 0.567 NA 4 40 0 0 0.009096 0 0 NR3C1 2908 broad.mit.edu 37 5 142779852 142779852 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:142779852T>A uc003lmz.2 - 2 1045 c.553A>T c.(553-555)ACC>TCC p.T185S NR3C1_uc003lmy.2_Missense_Mutation_p.T185S|NR3C1_uc003lna.2_Missense_Mutation_p.T185S|NR3C1_uc003lnb.2_Missense_Mutation_p.T185S|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.T185S|NR3C1_uc003lnd.2_Missense_Mutation_p.T185S|NR3C1_uc003lne.2_Missense_Mutation_p.T185S|NR3C1_uc003lnf.2_Missense_Mutation_p.T185S|NR3C1_uc003lng.2_Missense_Mutation_p.T185S|NR3C1_uc003lnh.2_Missense_Mutation_p.T185S|NR3C1_uc003lni.2_Missense_Mutation_p.T185S NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 185 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TGGTCTGTGGTATACAATTTC 0.453 NA 5 53 0 0 0.000602 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146070805 146070805 + Splice_Site SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:146070805T>A uc003loe.2 - 4 860 c.335_splice c.e4-1 p.D112_splice PPP2R2B_uc010jgm.2_Splice_Site_p.D101_splice|PPP2R2B_uc003log.3_Splice_Site_p.D112_splice|PPP2R2B_uc003lof.3_Splice_Site_p.D112_splice|PPP2R2B_uc003loi.3_Splice_Site_p.D115_splice|PPP2R2B_uc003loh.3_Splice_Site_p.D112_splice|PPP2R2B_uc003loj.3_Splice_Site_p.D92_splice|PPP2R2B_uc003lok.3_Splice_Site_p.D101_splice|PPP2R2B_uc011dbu.1_Splice_Site_p.D118_splice|PPP2R2B_uc011dbv.1_Splice_Site_p.D170_splice NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTTTTATCTGTAGTGGGCA 0.498 NA 7 37 0 0 0.001984 0 0 ZNF300 91975 broad.mit.edu 37 5 150276158 150276158 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:150276158T>C uc003lsy.1 - 6 910 c.643A>G c.(643-645)AGT>GGT p.S215G IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTCCAAAACTCTGATCAGGT 0.338 NA 6 37 0 0 0.001168 0 0 FAT2 2196 broad.mit.edu 37 5 150905491 150905491 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:150905491C>T uc003lue.3 - 17 10357 c.10344G>A c.(10342-10344)CTG>CTA p.L3448L GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.L141L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3448 Extracellular (Potential).|Cadherin 31. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACTCAGGATCAGCTGCAGGA 0.562 NA 8 38 0 0 0.004482 0 0 GRIA1 2890 broad.mit.edu 37 5 153065836 153065836 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:153065836C>A uc003lva.3 + 8 1446 c.1081C>A c.(1081-1083)CGG>AGG p.R361R GRIA1_uc003luy.3_Silent_p.R361R|GRIA1_uc003luz.3_Silent_p.R266R|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.R281R|GRIA1_uc011dcx.1_Silent_p.R292R|GRIA1_uc011dcy.1_Silent_p.R371R|GRIA1_uc011dcz.1_Silent_p.R371R|GRIA1_uc010jia.1_Silent_p.R341R NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 361 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAAAGGACGCCGGACCAACTA 0.468 NA 26 65 1.7881e-09 2.49478e-09 0.008361 1 0 GABRG2 2566 broad.mit.edu 37 5 161524813 161524813 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:161524813C>A uc003lyz.3 + 4 855 c.497C>A c.(496-498)CCC>CAC p.P166H GABRG2_uc010jjc.2_Missense_Mutation_p.P166H|GABRG2_uc003lyy.3_Missense_Mutation_p.P166H|GABRG2_uc011dej.1_Missense_Mutation_p.P71H NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 166 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATCACCACCCCCAACAGGATG 0.423 NA 9 29 2.17888e-05 2.59904e-05 0.006214 1 0 HMMR 3161 broad.mit.edu 37 5 162918138 162918138 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:162918138G>T uc003lzf.2 + 18 2325 c.2143G>T c.(2143-2145)GCT>TCT p.A715S HMMR_uc003lzh.2_Missense_Mutation_p.A716S|HMMR_uc003lzg.2_Missense_Mutation_p.A700S|HMMR_uc011dem.1_Missense_Mutation_p.A629S|uc003lzi.2_Intron NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 715 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) CTGTTACCGAGCTCCTATGGA 0.313 NA 14 42 1.52009e-12 2.24165e-12 0.003163 1 0 LCP2 3937 broad.mit.edu 37 5 169714976 169714976 + Silent SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:169714976C>G uc003man.1 - 3 393 c.186G>C c.(184-186)GTG>GTC p.V62V LCP2_uc011det.1_5'UTR NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 62 SAM. immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) GTACTTACGGCACCCGGAGCT 0.527 NA 4 53 0 0 0.000602 0 0 GABRP 2568 broad.mit.edu 37 5 170235643 170235643 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:170235643G>A uc003mau.2 + 8 917 c.719G>A c.(718-720)AGG>AAG p.R240K GABRP_uc011dev.1_Missense_Mutation_p.R240K NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 240 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGCTTCGGAGGAATGTTCTG 0.418 NA 6 45 0 0 0.001168 0 0 FLT4 2324 broad.mit.edu 37 5 180048007 180048007 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:180048007C>T uc003mma.3 - 15 2247 c.2168G>A c.(2167-2169)GGA>GAA p.G723E FLT4_uc003mlz.3_Missense_Mutation_p.G723E|FLT4_uc003mmb.1_Missense_Mutation_p.G256E|FLT4_uc011dgy.1_Missense_Mutation_p.E756K NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 723 Ig-like C2-type 7.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CAAGTCGACTCCTGCAGGGGG 0.687 Colon(97;1075 1466 27033 27547 35871) NA Congenital_Hereditary_Lymphedema 4 13 0 0 0.000602 0 0 DUSP22 56940 broad.mit.edu 37 6 350824 350824 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:350824G>T uc003msx.2 + 8 950 c.511G>T c.(511-513)GCT>TCT p.A171S DUSP22_uc003msy.1_3'UTR NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 171 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CTTCACAGCCGCTCCGGGAAT 0.408 NA 19 145 8.10497e-08 1.07502e-07 0.010504 1 0 GMDS 2762 broad.mit.edu 37 6 2117778 2117778 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:2117778C>A uc003mtq.2 - 3 350 c.160G>T c.(160-162)GTA>TTA p.V54L NM_001500 NP_001491 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 54 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity central_nervous_system(1) 1 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) GACCGCCGTACAATTCCATGG 0.358 NA 27 86 4.4194e-11 6.34325e-11 0.013726 1 0 SLC17A4 10050 broad.mit.edu 37 6 25777132 25777132 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:25777132A>G uc003nfe.2 + 10 1332 c.1213A>G c.(1213-1215)ATC>GTC p.I405V SLC17A4_uc011djx.1_Missense_Mutation_p.I175V|SLC17A4_uc003nff.1_Missense_Mutation_p.I194V|SLC17A4_uc003nfg.2_Missense_Mutation_p.I342V|SLC17A4_uc010jqa.2_Intron NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 405 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 GTCTTCTGCCATCAGCAGCTT 0.522 NA 6 95 0 0 0.001168 0 0 OR10C1 442194 broad.mit.edu 37 6 29408414 29408414 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:29408414T>C uc011dlp.1 + 1 622 c.622T>C c.(622-624)TGC>CGC p.C208R OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTCATCCTCTGCCCCTTTGG 0.582 NA 57 153 0 0 0.00361 0 0 MUC21 394263 broad.mit.edu 37 6 30955046 30955047 + Nonsense_Mutation DNP CC CC AA TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:30955046_30955047CC>AA uc003nsh.2 + 2 1345_1346 c.1094_1095CC>AA c.(1093-1095)TCC>TAA p.S365* MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 365 23.|Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 AACTCTGGGTCCAGCACGACCT 0.629 NA 42 115 0 0 0.004672 0 0 C2 717 broad.mit.edu 37 6 31903837 31903837 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:31903837A>G uc003nyf.2 + 7 1251 c.987A>G c.(985-987)AAA>AAG p.K329K C2_uc003nyc.2_Silent_p.K116K|C2_uc011doo.1_Silent_p.K83K|C2_uc011dop.1_Intron|C2_uc010jtk.2_Silent_p.K197K|C2_uc011doq.1_Silent_p.K300K|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank NM_000063 NP_000054 P06681 CO2_HUMAN complement component 2 isoform 1 preproprotein 329 VWFA. complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) CCAACTATAAAGGTACGGGTG 0.498 NA 5 30 0 0 0.001168 0 0 KIFC1 3833 broad.mit.edu 37 6 33371703 33371703 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:33371703C>T uc003oef.3 + 6 1003 c.553C>T c.(553-555)CGC>TGC p.R185C KIFC1_uc011drf.1_Missense_Mutation_p.R177C NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 185 Potential. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 GGGGACAGAGCGCACAACACT 0.592 NA 6 139 0 0 0.001168 0 0 MDGA1 266727 broad.mit.edu 37 6 37620084 37620084 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:37620084C>A uc003onu.1 - 7 2194 c.1015G>T c.(1015-1017)GAC>TAC p.D339Y MDGA1_uc003onw.3_RNA NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 339 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 TTGATCACGTCAGGAGTGATC 0.572 NA 9 18 0.000442599 0.000493424 0.006214 1 0 ZNF318 24149 broad.mit.edu 37 6 43306991 43306991 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:43306991T>A uc003oux.2 - 10 4823 c.4745A>T c.(4744-4746)GAG>GTG p.E1582V ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1582 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCCCTTAGTCTCAGGGGCCCC 0.468 NA 12 81 0 0 0.013537 0 0 MRPL14 64928 broad.mit.edu 37 6 44081627 44081627 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:44081627C>T uc003owp.2 - 3 520 c.391G>A c.(391-393)GAA>AAA p.E131K NM_032111 NP_115487 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 precursor 131 translation mitochondrion|ribosome structural constituent of ribosome ovary(1) 1 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) TACTCGCCTTCCCGCTTGCGC 0.562 NA 7 47 0 0 0.00308 0 0 COL21A1 81578 broad.mit.edu 37 6 56035886 56035886 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:56035886A>T uc003pcs.2 - 4 913 c.681T>A c.(679-681)GAT>GAA p.D227E COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.D227E|COL21A1_uc003pcu.1_Missense_Mutation_p.D227E NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 227 cell adhesion collagen|cytoplasm structural molecule activity p.D227N(1) ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ATCCCCTTTCATCACGAGCTG 0.308 NA 5 12 0 0 0.001984 0 0 BAI3 577 broad.mit.edu 37 6 70034899 70034899 + Silent SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:70034899T>C uc003pev.3 + 21 3398 c.2950T>C c.(2950-2952)TTG>CTG p.L984L BAI3_uc010kak.2_Silent_p.L984L|BAI3_uc011dxx.1_Silent_p.L190L|BAI3_uc003pex.1_Silent_p.L114L NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 984 Helical; Name=4; (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AAAACGCTTTTTGTGCCTTGG 0.403 NA 8 47 0 0 0.006214 0 0 DPPA5 340168 broad.mit.edu 37 6 74063858 74063858 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:74063858G>T uc003pgs.1 - 1 96 c.91C>A c.(91-93)CGG>AGG p.R31R NM_001025290 NP_001020461 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 31 KH; atypical. multicellular organismal development cytoplasm RNA binding 0 TTCAGCAGCCGCGTCTGGACC 0.602 NA 16 38 7.45023e-12 1.08494e-11 0.010504 1 0 KIAA1009 22832 broad.mit.edu 37 6 84872875 84872875 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:84872875C>G uc010kbp.2 - 19 2597 c.2500G>C c.(2500-2502)GCT>CCT p.A834P KIAA1009_uc003pkj.3_Missense_Mutation_p.A758P|KIAA1009_uc003pki.3_Missense_Mutation_p.A220P NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 834 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GTGACATAAGCAATCTGATCT 0.328 NA 28 62 0 0 0.012213 0 0 ASCC3 10973 broad.mit.edu 37 6 101103674 101103674 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:101103674A>G uc003pqk.2 - 17 3053 c.2724T>C c.(2722-2724)ACT>ACC p.T908T ASCC3_uc011eai.1_Silent_p.T810T NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 908 Helicase C-terminal 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTTCCACATTAGTAACTGTTC 0.363 NA 4 10 0 0 0.000602 0 0 PDSS2 57107 broad.mit.edu 37 6 107533374 107533374 + Missense_Mutation SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:107533374T>G uc003prt.2 - 5 1105 c.815A>C c.(814-816)CAT>CCT p.H272P PDSS2_uc011eak.1_Missense_Mutation_p.H136P|PDSS2_uc011eal.1_Intron|PDSS2_uc003pru.2_Missense_Mutation_p.H272P NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 272 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) CTCAGCATCATGCTTTGCTAA 0.418 NA 25 133 0 0 0.009535 0 0 AKD1 221264 broad.mit.edu 37 6 109954214 109954214 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:109954214C>A uc003ptn.2 - 12 1243 c.1166G>T c.(1165-1167)GGA>GTA p.G389V AKD1_uc003ptr.3_Missense_Mutation_p.G389V NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 389 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 ACATGGTGGTCCTGGCATAGG 0.353 NA 15 14 1.5739e-10 2.23609e-10 0.004007 1 0 CDC40 51362 broad.mit.edu 37 6 110522870 110522870 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:110522870G>T uc003pua.2 + 3 410 c.386G>T c.(385-387)AGG>ATG p.R129M NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 129 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) GAGCAGCAAAGGAGAACTTTT 0.383 NA 8 59 0.00448238 0.00482771 0.004482 1 0 HEY2 23493 broad.mit.edu 37 6 126080786 126080786 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:126080786G>T uc003qad.2 + 5 1043 c.852G>T c.(850-852)GGG>GGT p.G284G HEY2_uc011ebr.1_Silent_p.G238G NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 284 Ala-rich. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CCTTCGCGGGGGCATTCCCCA 0.662 NA 74 126 8.29215e-51 1.42413e-50 0.00361 1 0 ENPP3 5169 broad.mit.edu 37 6 132054860 132054860 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:132054860C>T uc003qcu.3 + 22 2433 c.2086C>T c.(2086-2088)CCT>TCT p.P696S ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Missense_Mutation_p.P696S NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 696 Extracellular (Potential).|Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CCTCTATCCTCCTGGTTAGTA 0.458 NA 4 73 0 0 0.000602 0 0 UTRN 7402 broad.mit.edu 37 6 144803498 144803498 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:144803498A>G uc003qkt.2 + 26 3753 c.3661A>G c.(3661-3663)ATT>GTT p.I1221V NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1221 Spectrin 8. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTGTAATAGAATTCGAGGAAA 0.343 NA 4 40 0 0 0.000602 0 0 PNLDC1 154197 broad.mit.edu 37 6 160241522 160241522 + Silent SNP G G A rs144377714 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr6:160241522G>A uc003qsx.1 + 19 1707 c.1536G>A c.(1534-1536)GCG>GCA p.A512A PNLDC1_uc003qsy.1_Silent_p.A523A NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 512 Helical; Anchor for type IV membrane protein; (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCCTTCTCGCGTTCATCCTTG 0.627 NA 12 48 0 0 0.013537 0 0 THSD7A 221981 broad.mit.edu 37 7 11441426 11441426 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:11441426A>G uc003ssf.3 - 22 4659 c.4407T>C c.(4405-4407)TGT>TGC p.C1469C NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1469 Extracellular (Potential).|TSP type-1 15. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACTCACCATAACATGATTTTG 0.328 NA HNSCC(18;0.044) 6 62 0 0 0.00308 0 0 HDAC9 9734 broad.mit.edu 37 7 18705919 18705919 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:18705919G>T uc003suh.2 + 11 1583 c.1542G>T c.(1540-1542)GCG>GCT p.A514A HDAC9_uc003sue.2_Silent_p.A514A|HDAC9_uc011jyd.1_Silent_p.A514A|HDAC9_uc003sui.2_Silent_p.A517A|HDAC9_uc003suj.2_Silent_p.A473A|HDAC9_uc011jya.1_Silent_p.A511A|HDAC9_uc003sua.1_Silent_p.A492A|HDAC9_uc011jyb.1_Silent_p.A470A|HDAC9_uc003sud.1_Silent_p.A514A|HDAC9_uc011jyc.1_Silent_p.A473A|HDAC9_uc003suf.1_Silent_p.A545A|HDAC9_uc010kud.1_Silent_p.A517A|HDAC9_uc011jye.1_Silent_p.A486A|HDAC9_uc011jyf.1_Silent_p.A437A|HDAC9_uc010kue.1_Intron NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 514 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GGGACCAGGCGATGCAGGAAG 0.532 NA OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 71 5.26018e-13 7.80651e-13 0.012319 1 0 ABCB5 340273 broad.mit.edu 37 7 20698250 20698250 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:20698250C>A uc003suw.3 + 5 869 c.323C>A c.(322-324)TCT>TAT p.S108Y ABCB5_uc010kuh.2_Missense_Mutation_p.S553Y|ABCB5_uc003suv.3_Missense_Mutation_p.S108Y|ABCB5_uc011jyi.1_Missense_Mutation_p.S108Y NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 108 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GAGGCTACGTCTGCCCTGGAT 0.448 NA 19 39 7.41877e-09 1.01681e-08 0.012319 1 0 MGC87042 256227 broad.mit.edu 37 7 22532984 22532984 + Nonsense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:22532984G>A uc003svh.2 - 3 596 c.499C>T c.(499-501)CGA>TGA p.R167* MGC87042_uc010kum.1_Nonsense_Mutation_p.R186* Q6NZ63 STEAL_HUMAN SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1; 167 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 CTGTAGGATCGCCTCATTGCG 0.373 NA 13 29 0 0 0.013537 0 0 CHN2 1124 broad.mit.edu 37 7 29440373 29440373 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:29440373A>G uc003szz.2 + 6 942 c.505A>G c.(505-507)AGG>GGG p.R169G CHN2_uc011jzs.1_Missense_Mutation_p.R244G|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.R134G|CHN2_uc011jzt.1_Missense_Mutation_p.R182G|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.R154G NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 169 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 AGTATCCAGAAGGCTGAGCAG 0.423 Ovarian(1;44 48 13232 18918 31480) NA 20 59 0 0 0.008871 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378648 31378648 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:31378648G>T uc003tch.2 - 2 588 c.235C>A c.(235-237)CTT>ATT p.L79I NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 79 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 TTTTTCCTAAGACCCCTCCTT 0.378 NA 8 232 7.48243e-07 9.49223e-07 0.006214 1 0 CCDC129 223075 broad.mit.edu 37 7 31617894 31617894 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:31617894G>A uc003tcj.1 + 8 2009 c.1016G>A c.(1015-1017)TGC>TAC p.C339Y CCDC129_uc011kad.1_Missense_Mutation_p.C349Y|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.C365Y|CCDC129_uc003tck.1_Missense_Mutation_p.C247Y NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 339 0 CAGTGGCCTTGCTCATCTATG 0.488 NA 8 61 0 0 0.004482 0 0 BMPER 168667 broad.mit.edu 37 7 34118560 34118560 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:34118560G>A uc011kap.1 + 12 1284 c.1170G>A c.(1168-1170)TTG>TTA p.L390L NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 390 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AGTACGTTTTGACAAAAGACT 0.587 NA 10 157 0 0 0.006214 0 0 KIAA0895 23366 broad.mit.edu 37 7 36396649 36396649 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:36396649T>A uc003tfd.2 - 3 780 c.729A>T c.(727-729)AAA>AAT p.K243N KIAA0895_uc003tfc.2_Missense_Mutation_p.K230N|KIAA0895_uc011kaw.1_Missense_Mutation_p.K92N|KIAA0895_uc003tfb.2_Missense_Mutation_p.K192N|KIAA0895_uc011kax.1_Missense_Mutation_p.K192N|KIAA0895_uc003tfe.2_Missense_Mutation_p.K230N|KIAA0895_uc011kay.1_Missense_Mutation_p.K192N NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 243 0 AGTTGGTGGGTTTTATAGCAG 0.393 NA 17 93 0 0 0.004007 0 0 ANLN 54443 broad.mit.edu 37 7 36464304 36464304 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:36464304A>G uc003tff.2 + 17 2866 c.2662A>G c.(2662-2664)AAA>GAA p.K888E ANLN_uc011kaz.1_Missense_Mutation_p.K800E|ANLN_uc003tfg.2_Missense_Mutation_p.K851E|ANLN_uc010kxe.2_Missense_Mutation_p.K850E NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 888 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 GGTGCAAAAGAAAGATCCCTC 0.303 NA 8 23 0 0 0.006214 0 0 TXNDC3 51314 broad.mit.edu 37 7 37927904 37927904 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:37927904A>G uc003tfn.2 + 15 1645 c.1273A>G c.(1273-1275)AGT>GGT p.S425G NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 425 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TGCGATGGACAGTTTGCCGGT 0.363 Ovarian(108;903 1537 27096 29907 47400) NA Kartagener_syndrome 3 37 0 0 0.004672 0 0 AMPH 273 broad.mit.edu 37 7 38462040 38462040 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:38462040T>A uc003tgu.2 - 16 1322 c.1253A>T c.(1252-1254)CAG>CTG p.Q418L AMPH_uc003tgv.2_Missense_Mutation_p.Q418L|AMPH_uc003tgt.2_Missense_Mutation_p.Q345L|AMPH_uc003tgw.1_Missense_Mutation_p.Q483L|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 418 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 GATCATACTCTGGTCTGTCTG 0.353 NA 8 235 0 0 0.004482 0 0 CAMK2B 816 broad.mit.edu 37 7 44259817 44259817 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:44259817G>T uc003tkq.2 - 23 2055 c.1845C>A c.(1843-1845)GCC>GCA p.A615A CAMK2B_uc003tkp.2_Silent_p.A491A|CAMK2B_uc003tkx.2_Silent_p.A451A|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.A467A|CAMK2B_uc003tks.2_Silent_p.A466A|CAMK2B_uc003tku.2_Silent_p.A452A|CAMK2B_uc003tkv.2_Silent_p.A428A|CAMK2B_uc003tkt.2_Silent_p.A441A|CAMK2B_uc003tkw.2_Silent_p.A398A|CAMK2B_uc010kyc.2_Silent_p.A491A|CAMK2B_uc003tkn.2_Silent_p.A248A NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 615 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 AAGCGATGCAGGCGGCATCCT 0.667 NA 4 46 2.56e-06 3.17277e-06 0.009096 1 0 PKD1L1 168507 broad.mit.edu 37 7 47937647 47937647 + Nonsense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:47937647T>A uc003tny.1 - 14 2209 c.2209A>T c.(2209-2211)AGA>TGA p.R737* NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 737 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGGGTCTGTCTGTGAGTGTCC 0.537 NA 3 31 0 0 0.004672 0 0 POM121L12 285877 broad.mit.edu 37 7 53103526 53103526 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:53103526C>A uc003tpz.2 + 1 178 c.162C>A c.(160-162)CCC>CCA p.P54P NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 54 0 GTCCCTGGCCCCTGAGGTCCC 0.701 NA 6 62 5.18039e-06 6.31954e-06 0.00308 1 0 MAGI2 9863 broad.mit.edu 37 7 78150963 78150963 + Splice_Site SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:78150963C>A uc003ugx.2 - 4 793 c.539_splice c.e4-1 p.D180_splice MAGI2_uc003ugy.2_Splice_Site_p.D180_splice|MAGI2_uc011kgr.1_Splice_Site_p.D12_splice|MAGI2_uc011kgs.1_Splice_Site_p.D17_splice NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TAGTAATTGTCTGCAAACAAT 0.368 NA 26 137 9.57634e-11 1.36889e-10 0.00333 1 0 HGF 3082 broad.mit.edu 37 7 81374416 81374416 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:81374416C>A uc003uhl.2 - 6 811 c.646G>T c.(646-648)GGG>TGG p.G216W HGF_uc003uhm.2_Missense_Mutation_p.G211W|HGF_uc003uhn.1_Missense_Mutation_p.G216W|HGF_uc003uho.1_Missense_Mutation_p.G211W NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 216 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TAACTCTCCCCATTGCAGGTC 0.408 NA 25 27 3.28513e-13 4.90663e-13 0.003954 1 0 PCLO 27445 broad.mit.edu 37 7 82582364 82582364 + Silent SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:82582364T>C uc003uhx.2 - 5 8194 c.7905A>G c.(7903-7905)TCA>TCG p.S2635S PCLO_uc003uhv.2_Silent_p.S2635S|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2566 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGGTCTGTTCTGAAGAAATTG 0.463 NA 15 94 0 0 0.003163 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87459223 87459223 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:87459223C>A uc003ujb.2 + 12 1711 c.1300C>A c.(1300-1302)CTT>ATT p.L434I RUNDC3B_uc011khe.1_Missense_Mutation_p.L417I|RUNDC3B_uc003ujc.2_Missense_Mutation_p.L368I|RUNDC3B_uc003ujd.2_Missense_Mutation_p.L290I NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 434 skin(1) 1 Esophageal squamous(14;0.00164) TCCCTCATTACTTGGCCTCTG 0.353 NA 9 57 3.86212e-05 4.52198e-05 0.008291 1 0 ZNF804B 219578 broad.mit.edu 37 7 88966205 88966205 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:88966205C>A uc011khi.1 + 4 4447 c.3909C>A c.(3907-3909)GCC>GCA p.A1303A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1303 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAATCCAGCCACAACTTCTA 0.438 NA HNSCC(36;0.09) 43 145 8.00217e-19 1.27706e-18 0.00361 1 0 SRRT 51593 broad.mit.edu 37 7 100473278 100473278 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:100473278T>A uc003uwy.2 + 3 335 c.67T>A c.(67-69)TAC>AAC p.Y23N SRRT_uc010lhl.1_Missense_Mutation_p.Y23N|SRRT_uc003uxa.2_Missense_Mutation_p.Y23N|SRRT_uc003uwz.2_Missense_Mutation_p.Y23N NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 23 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GCGCAGCGACTACGACCGTTC 0.572 NA 11 78 0 0 0.008291 0 0 PLOD3 8985 broad.mit.edu 37 7 100856219 100856219 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:100856219C>A uc003uyd.2 - 8 1239 c.783G>T c.(781-783)CAG>CAT p.Q261H PLOD3_uc010lhs.2_5'Flank NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 261 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) GGTAGTTGAGCTGCAGCTGTT 0.642 NA 6 32 2.7689e-08 3.73641e-08 0.001984 1 0 RELN 5649 broad.mit.edu 37 7 103207069 103207069 + Nonsense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:103207069G>A uc003vca.2 - 32 4886 c.4726C>T c.(4726-4728)CGA>TGA p.R1576* RELN_uc010liz.2_Nonsense_Mutation_p.R1576* NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1576 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGCCACCATCGAAATGCCGTT 0.493 NSCLC(146;835 1944 15585 22231 52158) NA 4 84 0 0 0.000602 0 0 DLD 1738 broad.mit.edu 37 7 107557757 107557757 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:107557757G>A uc003vet.2 + 11 1196 c.1086G>A c.(1084-1086)CTG>CTA p.L362L DLD_uc011kmg.1_Silent_p.L314L|DLD_uc011kmh.1_Silent_p.L339L|DLD_uc011kmi.1_Silent_p.L263L NM_000108 NP_000099 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase precursor 362 FAD. branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity central_nervous_system(1) 1 NADH(DB00157) GTCCAATGCTGGCTCACAAAG 0.423 NA 26 85 0 0 0.007291 0 0 LAMB1 3912 broad.mit.edu 37 7 107642135 107642135 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:107642135G>T uc003vew.2 - 3 416 c.81C>A c.(79-81)AGC>AGA p.S27R LAMB1_uc003vev.2_Missense_Mutation_p.S51R|LAMB1_uc003vex.2_Missense_Mutation_p.S27R|LAMB1_uc010ljn.1_Missense_Mutation_p.S113R NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 27 axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCAGCCGTAGCTGAACTCGG 0.652 NA 3 14 6.4e-05 7.44523e-05 0.004672 1 0 DNAJB9 4189 broad.mit.edu 37 7 108213544 108213544 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:108213544A>G uc003vfn.2 + 3 621 c.419A>G c.(418-420)CAT>CGT p.H140R NM_012328 NP_036460 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 140 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding 0 TTTGAAAATCATTTCCAGACA 0.358 NA 9 27 0 0 0.010729 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518831 113518831 + Silent SNP C C A rs34610491 byFrequency TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:113518831C>A uc010ljy.1 - 4 2347 c.2316G>T c.(2314-2316)GCG>GCT p.A772A NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 772 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GTGGATCAAACGCTGTTTCCT 0.408 NA 4 69 0.000602214 0.000667112 0.000602 1 0 SMO 6608 broad.mit.edu 37 7 128848686 128848686 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:128848686C>A uc003vor.2 + 7 1631 c.1351C>A c.(1351-1353)CGC>AGC p.R451S SMO_uc003vos.2_Missense_Mutation_p.R126S NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 451 Cytoplasmic (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 GACCATGCTGCGCCTGGGTGA 0.617 NA Mis skin basal cell 12 15 3.07112e-06 3.79278e-06 0.010729 1 0 C7orf34 135927 broad.mit.edu 37 7 142637531 142637531 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:142637531C>A uc003wca.2 + 2 342 c.301C>A c.(301-303)CAG>AAG p.Q101K NM_178829 NP_849151 Q96L11 CG034_HUMAN hypothetical protein LOC135927 76 extracellular region 0 Melanoma(164;0.059) GGAAGAAGACCAGTCGTCCAA 0.542 NA 47 67 3.76525e-18 5.95454e-18 0.00361 1 0 TAS2R40 259286 broad.mit.edu 37 7 142919937 142919937 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:142919937T>C uc011ksx.1 + 1 766 c.766T>C c.(766-768)TAC>CAC p.Y256H NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 256 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) TCTCATCCTCTACATTTTCAA 0.478 NA 15 165 0 0 0.003163 0 0 FAM131B 9715 broad.mit.edu 37 7 143056027 143056027 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:143056027C>A uc003wct.2 - 4 1981 c.275G>T c.(274-276)GGG>GTG p.G92V FAM131B_uc010loz.2_Missense_Mutation_p.G60V|FAM131B_uc003wcu.3_Missense_Mutation_p.G92V|FAM131B_uc010lpa.2_Missense_Mutation_p.G120V|ZYX_uc011ktd.1_5'Flank NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 92 0 Melanoma(164;0.205) TGGTGTCTTCCCCCAGCCCTG 0.607 NA 10 25 0.000978159 0.00107844 0.010729 1 0 OR2F1 26211 broad.mit.edu 37 7 143657496 143657496 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:143657496G>T uc003wds.1 + 1 477 c.433G>T c.(433-435)GCC>TCC p.A145S NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) TGCTAGGTTGGCCATCACATC 0.527 NA 8 80 3.09899e-07 4.00405e-07 0.004482 1 0 OR2A14 135941 broad.mit.edu 37 7 143826981 143826981 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:143826981T>A uc011kua.1 + 1 776 c.776T>A c.(775-777)ATG>AAG p.M259K NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GTCACGTACATGGCCCCCAAG 0.552 NA 19 200 0 0 0.012319 0 0 OR2A14 135941 broad.mit.edu 37 7 143827000 143827000 + Silent SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:143827000T>C uc011kua.1 + 1 795 c.795T>C c.(793-795)CAT>CAC p.H265H NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) AGTCCCGCCATCCTGAGGAGC 0.547 NA 121 136 0 0 0.00361 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144060384 144060384 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:144060384G>A uc003wel.2 + 2 740 c.622G>A c.(622-624)GAA>AAA p.E208K ARHGEF5_uc003wek.2_Missense_Mutation_p.E208K NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 208 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) CAGGCAGGGGGAAGAGCTGCC 0.542 NA 32 302 0 0 0.003271 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146805426 146805426 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:146805426C>A uc003weu.1 + 5 1254 c.738C>A c.(736-738)GTC>GTA p.V246V NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 246 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCAAGCTGGTCCTCAGTTTAA 0.398 NA HNSCC(39;0.1) 4 11 1.23904e-05 1.49069e-05 0.000602 1 0 SSPO 23145 broad.mit.edu 37 7 149481971 149481971 + Splice_Site SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:149481971G>T uc010lpk.2 + 19 2760 c.2760_splice c.e19+1 p.Q920_splice SSPO_uc010lpl.1_Missense_Mutation_p.G256W NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTTCACAGGGGCATTCTGC 0.607 NA 10 93 7.48243e-07 9.49223e-07 0.006214 1 0 SSPO 23145 broad.mit.edu 37 7 149492318 149492318 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:149492318G>T uc010lpk.2 + 43 6207 c.6207G>T c.(6205-6207)CTG>CTT p.L2069L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2069 F5/8 type C. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATTCTCCCCTGGGGCTGGCCG 0.672 NA 16 50 9.16793e-09 1.25164e-08 0.00499 1 0 MLL3 58508 broad.mit.edu 37 7 151874238 151874238 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:151874238C>A uc003wla.2 - 38 8519 c.8300G>T c.(8299-8301)GGA>GTA p.G2767V MLL3_uc003wkz.2_Missense_Mutation_p.G1828V|MLL3_uc003wky.2_Missense_Mutation_p.G276V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2767 Asp-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTTCTTATCTCCCATGTCAAG 0.348 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 18 128 3.52763e-06 4.34122e-06 0.00499 1 0 CSMD1 64478 broad.mit.edu 37 8 2949081 2949081 + Silent SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:2949081A>T uc011kwk.1 - 48 7635 c.7245T>A c.(7243-7245)ACT>ACA p.T2415T CSMD1_uc011kwj.1_Silent_p.T1744T|CSMD1_uc010lrg.2_Silent_p.T483T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2415 CUB 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGCATGGTCAGTGGACCAGC 0.373 NA 4 14 0 0 0.009096 0 0 PRSS55 203074 broad.mit.edu 37 8 10387192 10387192 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:10387192A>G uc003wta.2 + 2 345 c.330A>G c.(328-330)TTA>TTG p.L110L uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 110 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 CTCACTGCTTATATTCCGAGG 0.592 NA 68 174 0 0 0.00361 0 0 RP1L1 94137 broad.mit.edu 37 8 10466378 10466378 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:10466378C>A uc003wtc.2 - 4 5459 c.5230G>T c.(5230-5232)GAG>TAG p.E1744* NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1744 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCGCCATCCTCACCCTCGTCC 0.632 NA 32 103 6.00712e-18 9.45716e-18 0.012213 1 0 RP1L1 94137 broad.mit.edu 37 8 10469396 10469396 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:10469396C>A uc003wtc.2 - 4 2441 c.2212G>T c.(2212-2214)GCC>TCC p.A738S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 738 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GTGACAGTGGCACTGCTGGTT 0.627 NA 24 46 5.35356e-11 7.66831e-11 0.00278 1 0 SOX7 83595 broad.mit.edu 37 8 10584169 10584169 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:10584169C>T uc003wtf.2 - 2 325 c.246G>A c.(244-246)TCG>TCA p.S82S SOX7_uc011kwz.1_Silent_p.S134S|uc003wtg.1_5'Flank NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 82 HMG box. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GCGCCTTCCACGACTTTCCTG 0.507 NA 6 39 0 0 0.001168 0 0 XKR6 286046 broad.mit.edu 37 8 10756197 10756197 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:10756197C>A uc003wtk.1 - 3 1218 c.1191G>T c.(1189-1191)ATG>ATT p.M397I NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 397 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TCCAGAAGGCCATGGCGCACC 0.512 NA 11 36 1.58986e-06 1.9916e-06 0.008291 1 0 EFHA2 286097 broad.mit.edu 37 8 16948092 16948092 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:16948092G>T uc003wxd.2 + 8 929 c.887G>T c.(886-888)AGT>ATT p.S296I NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 296 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) CCTACTAATAGTGTATGTACA 0.328 Pancreas(177;1461 2846 10523 14242)|Colon(184;2703 2719 18484 23400) NA 17 81 1.15088e-07 1.50086e-07 0.004007 1 0 MTUS1 57509 broad.mit.edu 37 8 17612649 17612649 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:17612649T>A uc003wxv.2 - 2 1142 c.668A>T c.(667-669)TAT>TTT p.Y223F MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.Y223F|MTUS1_uc010lsz.2_Missense_Mutation_p.Y223F NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 223 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) TTCTCTATCATAAGTAGTTTC 0.418 NA 5 130 0 0 0.001984 0 0 SLC18A1 6570 broad.mit.edu 37 8 20003354 20003354 + Silent SNP G G T rs149404030 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:20003354G>T uc011kyq.1 - 17 1969 c.1498C>A c.(1498-1500)CGG>AGG p.R500R SLC18A1_uc003wzl.2_Silent_p.R287R|SLC18A1_uc003wzm.2_Silent_p.R500R|SLC18A1_uc011kyr.1_Missense_Mutation_p.P455Q|SLC18A1_uc003wzn.2_Silent_p.R468R|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Silent_p.R468R NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 500 Cytoplasmic (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) GCATACATCCGGGTCTCCATG 0.473 NA 11 51 6.42651e-13 9.51723e-13 0.010729 1 0 PIWIL2 55124 broad.mit.edu 37 8 22210612 22210612 + Silent SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:22210612G>T uc003xbn.2 + 21 2692 c.2544G>T c.(2542-2544)GTG>GTT p.V848V PIWIL2_uc011kzf.1_Silent_p.V848V|PIWIL2_uc010ltv.2_Silent_p.V848V|PIWIL2_uc003xbo.2_Silent_p.V2V NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 848 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CCAAGATGGTGGTGTTTGTAG 0.408 NA 45 103 4.21674e-32 7.10241e-32 0.00361 1 0 ADAM2 2515 broad.mit.edu 37 8 39645695 39645695 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:39645695T>C uc003xnj.2 - 9 793 c.718A>G c.(718-720)ACT>GCT p.T240A ADAM2_uc003xnk.2_Missense_Mutation_p.T221A|ADAM2_uc011lck.1_Missense_Mutation_p.T240A|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 240 Extracellular (Potential).|Peptidase M12B. 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) GCTTCTCCAGTGGTTGCAATT 0.289 NA 4 8 0 0 0.009096 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532226 40532226 + Nonsense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:40532226T>A uc003xnr.2 - 5 720 c.574A>T c.(574-576)AGA>TGA p.R192* ZMAT4_uc003xns.2_Intron NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 192 nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CCCTTACCTCTCAGTTCCCCC 0.448 NA 27 73 0 0 0.00632 0 0 SNTG1 54212 broad.mit.edu 37 8 51449349 51449349 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:51449349C>A uc010lxy.1 + 12 1032 c.661C>A c.(661-663)CCC>ACC p.P221T SNTG1_uc003xqs.1_Missense_Mutation_p.P221T|SNTG1_uc010lxz.1_Missense_Mutation_p.P221T|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 221 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCAGTATGTGCCCGGCACAGA 0.473 NA 42 286 5.2432e-18 8.27313e-18 0.00361 1 0 XKR4 114786 broad.mit.edu 37 8 56436157 56436157 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:56436157A>T uc003xsf.2 + 3 1356 c.1324A>T c.(1324-1326)ATC>TTC p.I442F NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 442 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) GATTATCTATATCTTCAGTTG 0.448 NA 149 226 0 0 0.00361 0 0 UBXN2B 137886 broad.mit.edu 37 8 59347001 59347001 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:59347001T>A uc003xtl.2 + 5 593 c.471T>A c.(469-471)GAT>GAA p.D157E NM_001077619 NP_001071087 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 157 SEP. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus ovary(2) 2 GTTTAGATGATGGAGAATTGA 0.279 NA 4 50 0 0 0.001168 0 0 CYP7A1 1581 broad.mit.edu 37 8 59410881 59410881 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:59410881G>A uc003xtm.3 - 2 291 c.228C>T c.(226-228)GTC>GTT p.V76V NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 76 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TGATGAAATGGACATATTTTC 0.393 NA Neonatal_Giant_Cell_Hepatitis 7 140 0 0 0.001984 0 0 PREX2 80243 broad.mit.edu 37 8 68956759 68956759 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:68956759C>A uc003xxv.1 + 8 904 c.877C>A c.(877-879)CGG>AGG p.R293R PREX2_uc003xxu.1_Silent_p.R293R|PREX2_uc011lez.1_Silent_p.R228R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 293 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AGATGGACATCGGTACCTTTT 0.403 NA 4 38 0.00024832 0.000280413 0.009096 1 0 SLCO5A1 81796 broad.mit.edu 37 8 70585498 70585498 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:70585498T>A uc003xyl.2 - 10 2860 c.2153A>T c.(2152-2154)CAG>CTG p.Q718L SLCO5A1_uc010lzb.2_Missense_Mutation_p.Q663L|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 718 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ACCACATTCCTGTTGCCAGAG 0.468 NA 70 283 0 0 0.00361 0 0 PRDM14 63978 broad.mit.edu 37 8 70964509 70964509 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:70964509G>A uc003xym.2 - 8 1721 c.1519C>T c.(1519-1521)CAC>TAC p.H507Y NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 507 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TGCCTGATGTGTGTGCGGAGT 0.488 NSCLC(129;99 1813 5906 40656 46114) NA 13 206 0 0 0.003163 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764453 77764453 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:77764453G>A uc003yav.2 + 10 5548 c.5161G>A c.(5161-5163)GGC>AGC p.G1721S ZFHX4_uc003yau.1_Missense_Mutation_p.G1766S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G1721S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1721 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGGATGCCTGGCATGACAGG 0.473 NA HNSCC(33;0.089) 4 36 0 0 0.000602 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768373 77768373 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:77768373C>A uc003yav.2 + 10 9468 c.9081C>A c.(9079-9081)GAC>GAA p.D3027E ZFHX4_uc003yau.1_Missense_Mutation_p.D3072E|ZFHX4_uc003yaw.1_Missense_Mutation_p.D3027E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3027 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAGCTTCAGACGTGCTGGGCT 0.572 NA HNSCC(33;0.089) 24 178 7.07758e-08 9.42329e-08 0.004656 1 0 ZFHX4 79776 broad.mit.edu 37 8 77776730 77776730 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:77776730G>T uc003yav.2 + 11 11032 c.10645G>T c.(10645-10647)GTG>TTG p.V3549L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3545 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTCTTTGGAAGTGAAGGCTAA 0.448 NA HNSCC(33;0.089) 9 46 0.00448238 0.00482771 0.004482 1 0 RALYL 138046 broad.mit.edu 37 8 85799925 85799926 + Missense_Mutation DNP CC CC AG TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:85799925_85799926CC>AG uc003ycq.3 + 9 1188_1189 c.772_773CC>AG c.(772-774)CCT>AGT p.P258S RALYL_uc003ycr.3_Missense_Mutation_p.P258S|RALYL_uc003ycs.3_Missense_Mutation_p.P258S|RALYL_uc010lzy.2_Missense_Mutation_p.P247S|RALYL_uc003yct.3_Missense_Mutation_p.P271S|RALYL_uc003ycu.3_Missense_Mutation_p.P185S|RALYL_uc003ycv.3_Intron NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 258 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 TACAGAGGAGCCTGCTGAAGGA 0.51 NA 29 71 0 0 0.004672 0 0 CNBD1 168975 broad.mit.edu 37 8 88249304 88249304 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:88249304A>G uc003ydy.2 + 6 783 c.735A>G c.(733-735)ACA>ACG p.T245T NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 245 ovary(3) 3 AAAACTCTACACTTGCTGAGA 0.373 NA 5 29 0 0 0.001168 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885435 88885435 + Nonsense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:88885435A>T uc003ydz.2 - 1 862 c.765T>A c.(763-765)TGT>TGA p.C255* NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 255 ovary(1) 1 CTTGATTTCCACAGCGCAGAT 0.512 NA 15 115 0 0 0.003163 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885437 88885437 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:88885437A>T uc003ydz.2 - 1 860 c.763T>A c.(763-765)TGT>AGT p.C255S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 255 ovary(1) 1 TGATTTCCACAGCGCAGATCA 0.512 NA 14 114 0 0 0.00245 0 0 NIPAL2 79815 broad.mit.edu 37 8 99264812 99264812 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:99264812G>A uc003yil.1 - 3 511 c.255C>T c.(253-255)TTC>TTT p.F85F NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Silent_p.F85F NM_024759 NP_079035 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 85 integral to membrane 0 GCACACTCTTGAAGTATGGCC 0.493 NA 5 83 0 0 0.001168 0 0 GRHL2 79977 broad.mit.edu 37 8 102586052 102586052 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:102586052G>T uc010mbu.2 + 6 1221 c.891G>T c.(889-891)AGG>AGT p.R297S GRHL2_uc011lhi.1_Missense_Mutation_p.R297S NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 297 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) GCAAAGTCAGGGTAGGGGCCA 0.478 NA 16 28 1.56452e-12 2.30232e-12 0.007413 1 0 RIMS2 9699 broad.mit.edu 37 8 104778725 104778725 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:104778725G>T uc003ylp.2 + 3 797 c.658G>T c.(658-660)GGC>TGC p.G220C NM_001100117 NP_001093587 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 251 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAATGGGTCAGGCGTGAAGCA 0.418 NA HNSCC(12;0.0054) 10 44 1.58986e-06 1.9916e-06 0.008291 1 0 RIMS2 9699 broad.mit.edu 37 8 104897822 104897822 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:104897822G>T uc003yls.2 + 2 570 c.329G>T c.(328-330)CGC>CTC p.R110L RIMS2_uc003ylp.2_Missense_Mutation_p.R332L|RIMS2_uc003ylw.2_Missense_Mutation_p.R140L|RIMS2_uc003ylq.2_Missense_Mutation_p.R140L|RIMS2_uc003ylr.2_Missense_Mutation_p.R140L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 363 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TACCAGTCACGCTACCGAAGT 0.463 NA HNSCC(12;0.0054) 3 16 0.004672 0.00500111 0.004672 1 0 RIMS2 9699 broad.mit.edu 37 8 104898100 104898100 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:104898100G>A uc003yls.2 + 2 848 c.607G>A c.(607-609)GCA>ACA p.A203T RIMS2_uc003ylp.2_Missense_Mutation_p.A425T|RIMS2_uc003ylw.2_Missense_Mutation_p.A233T|RIMS2_uc003ylq.2_Missense_Mutation_p.A233T|RIMS2_uc003ylr.2_Missense_Mutation_p.A233T NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 456 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAGTTCTTATGCACAAAGGAC 0.473 NA HNSCC(12;0.0054) 5 13 0 0 0.000602 0 0 RIMS2 9699 broad.mit.edu 37 8 105261776 105261776 + Silent SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:105261776C>G uc003yls.2 + 26 3946 c.3705C>G c.(3703-3705)GCC>GCG p.A1235A RIMS2_uc003ylp.2_Silent_p.A1217A|RIMS2_uc003ylw.2_Silent_p.A1224A|RIMS2_uc003ylq.2_Silent_p.A1031A|RIMS2_uc003ylr.2_Silent_p.A1056A NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1279 C2 2. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCATCCGGGCCCGTGGCCTTG 0.393 NA HNSCC(12;0.0054) 3 35 0 0 0.001168 0 0 TM7SF4 81501 broad.mit.edu 37 8 105360857 105360858 + Missense_Mutation DNP GG GG AT TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:105360857_105360858GG>AT uc003ylx.1 + 2 126_127 c.77_78GG>AT c.(76-78)TGG>TAT p.W26Y NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 26 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGCCCCGGATGGATGGACTTTA 0.495 NA 36 146 0 0 0.004672 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813908 106813908 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:106813908G>C uc003ymd.2 + 8 1621 c.1598G>C c.(1597-1599)AGT>ACT p.S533T ZFPM2_uc011lhs.1_Missense_Mutation_p.S264T NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 533 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CATGGCAGTAGTAGCTACCCT 0.453 NA 41 177 0 0 0.007835 0 0 CSMD3 114788 broad.mit.edu 37 8 113649205 113649205 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:113649205C>A uc003ynu.2 - 22 3715 c.3556G>T c.(3556-3558)GGC>TGC p.G1186C CSMD3_uc003yns.2_Missense_Mutation_p.G458C|CSMD3_uc003ynt.2_Missense_Mutation_p.G1146C|CSMD3_uc011lhx.1_Missense_Mutation_p.G1082C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1186 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGAGGAATGCCAGGATCTTCA 0.423 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 136 4.35082e-09 6.02222e-09 0.010504 1 0 TRPS1 7227 broad.mit.edu 37 8 116426738 116426738 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:116426738G>C uc003ynz.2 - 6 3818 c.3359C>G c.(3358-3360)TCC>TGC p.S1120C TRPS1_uc011lhy.1_Missense_Mutation_p.S1124C|TRPS1_uc003yny.2_Missense_Mutation_p.S1133C|TRPS1_uc010mcy.2_Missense_Mutation_p.S1120C NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1120 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CCCAGGAACGGAGAGCTTATA 0.458 NA Langer-Giedion_syndrome 3 30 0 0 0.004672 0 0 SLC30A8 169026 broad.mit.edu 37 8 118159363 118159363 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:118159363G>T uc003yoh.2 + 2 472 c.242G>T c.(241-243)TGC>TTC p.C81F SLC30A8_uc010mcz.2_Missense_Mutation_p.C32F|SLC30A8_uc011lia.1_Missense_Mutation_p.C32F|SLC30A8_uc003yog.2_Missense_Mutation_p.C32F NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 81 Helical; (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TCAGCAATATGCTTCATTTTC 0.468 Ovarian(162;1202 1922 6011 16223 52092) NA 19 42 5.3912e-06 6.56525e-06 0.006122 1 0 MED30 90390 broad.mit.edu 37 8 118540906 118540906 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:118540906C>G uc003yoj.2 + 2 345 c.194C>G c.(193-195)ACT>AGT p.T65S MED30_uc011lib.1_Missense_Mutation_p.T65S NM_080651 NP_542382 Q96HR3 MED30_HUMAN TRAP/Mediator complex component TRAP25 65 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding 0 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) AATGGTGTCACTTACCACACT 0.338 Melanoma(81;817 1341 9674 26244 29255) NA 14 27 0 0 0.001855 0 0 FER1L6 654463 broad.mit.edu 37 8 125072897 125072897 + Nonsense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:125072897C>T uc003yqw.2 + 24 3300 c.3094C>T c.(3094-3096)CAG>TAG p.Q1032* uc003yqy.1_RNA NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1032 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTGCGTGATCCAGAGCTACAA 0.547 NA 11 100 0 0 0.013537 0 0 FAM135B 51059 broad.mit.edu 37 8 139165270 139165270 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:139165270C>A uc003yuy.2 - 13 1619 c.1448G>T c.(1447-1449)GGT>GTT p.G483V FAM135B_uc003yux.2_Missense_Mutation_p.G384V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G45V|FAM135B_uc003yvb.2_Missense_Mutation_p.G45V NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 483 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CACATTCTCACCTGGCTCTGG 0.388 NA HNSCC(54;0.14) 59 75 3.84483e-29 6.44494e-29 0.00361 1 0 COL22A1 169044 broad.mit.edu 37 8 139635992 139635992 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:139635992C>G uc003yvd.2 - 52 4201 c.3754G>C c.(3754-3756)GGT>CGT p.G1252R COL22A1_uc011ljo.1_Missense_Mutation_p.G532R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1252 Pro-rich.|Gly-rich.|Collagen-like 12. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGGGGACCCGGCTTTCCA 0.398 NA HNSCC(7;0.00092) 138 345 0 0 0.00361 0 0 GML 2765 broad.mit.edu 37 8 143927822 143927822 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:143927822C>T uc003yxg.2 + 4 283 c.193C>T c.(193-195)CGT>TGT p.R65C NM_002066 NP_002057 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule 65 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane central_nervous_system(2) 2 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CATAAATTCTCGTGAACTACT 0.343 NA 20 47 0 0 0.007413 0 0 ZC3H3 23144 broad.mit.edu 37 8 144522481 144522481 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:144522481G>A uc003yyd.2 - 11 2574 c.2545C>T c.(2545-2547)CTC>TTC p.L849F NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 849 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCCGCAGTGAGGGCAGCCGAG 0.597 NA 3 16 0 0 0.004672 0 0 KDM4C 23081 broad.mit.edu 37 9 6814718 6814718 + Silent SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:6814718A>T uc003zkh.2 + 4 988 c.408A>T c.(406-408)GCA>GCT p.A136A KDM4C_uc010mhu.2_Silent_p.A158A|KDM4C_uc010mhw.2_Silent_p.A136A|KDM4C_uc011lmi.1_Silent_p.A136A|KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.2_Silent_p.A136A|KDM4C_uc011lmk.1_5'UTR|KDM4C_uc010mhv.2_Silent_p.A136A NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 136 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 TCTATGGTGCAGATATTAATG 0.353 NA 4 35 0 0 0.000602 0 0 PTPRD 5789 broad.mit.edu 37 9 8528593 8528594 + Missense_Mutation DNP GA GA TT TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:8528593_8528594GA>TT uc003zkk.2 - 14 1249_1250 c.538_539TC>AA c.(538-540)TCA>AAA p.S180K PTPRD_uc003zkp.2_Missense_Mutation_p.S180K|PTPRD_uc003zkq.2_Missense_Mutation_p.S180K|PTPRD_uc003zkr.2_Missense_Mutation_p.S180K|PTPRD_uc003zks.2_Missense_Mutation_p.S180K|PTPRD_uc003zkl.2_Missense_Mutation_p.S180K|PTPRD_uc003zkm.2_Missense_Mutation_p.S180K|PTPRD_uc003zkn.2_Missense_Mutation_p.S180K|PTPRD_uc003zko.2_Missense_Mutation_p.S180K|PTPRD_uc003zkt.1_Missense_Mutation_p.S180K NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 180 Extracellular (Potential).|Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GACCCTACCTGATCGTAACTGC 0.297 NA TSP Lung(15;0.13) 14 106 0 0 0.004672 0 0 IFNA17 3451 broad.mit.edu 37 9 21227612 21227612 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:21227612C>A uc003zos.1 - 1 610 c.561G>T c.(559-561)AGG>AGT p.R187S IFNA14_uc003zoo.1_Intron NM_021268 NP_067091 P01571 IFN17_HUMAN interferon, alpha 17 precursor 187 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TTCAATCCTTCCTCCTTAATA 0.373 NA 24 80 9.95505e-16 1.53611e-15 0.002299 1 0 APTX 54840 broad.mit.edu 37 9 32973624 32973624 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:32973624C>G uc003zrm.2 - 7 1098 c.901G>C c.(901-903)GGT>CGT p.G301R APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Missense_Mutation_p.G213R|APTX_uc011lns.1_Missense_Mutation_p.G122R|APTX_uc003zrl.2_Missense_Mutation_p.G127R|APTX_uc003zrn.2_Missense_Mutation_p.G213R|APTX_uc003zro.2_Missense_Mutation_p.G301R|APTX_uc003zrp.2_Missense_Mutation_p.G213R|APTX_uc003zrq.2_Missense_Mutation_p.G213R|APTX_uc003zrr.2_Missense_Mutation_p.G247R|APTX_uc003zrs.2_Missense_Mutation_p.G301R|APTX_uc003zrt.2_Missense_Mutation_p.G213R|APTX_uc003zru.2_Missense_Mutation_p.G247R|APTX_uc003zrv.2_3'UTR|APTX_uc003zrw.2_Missense_Mutation_p.G229R|APTX_uc003zrx.2_3'UTR|APTX_uc003zry.2_Missense_Mutation_p.G301R|APTX_uc003zrz.2_Missense_Mutation_p.G122R NM_175072 NP_778242 Q7Z2E3 APTX_HUMAN aprataxin isoform c 315 cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) GTTACTCTACCAGCCTCTTGT 0.468 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 6 42 0 0 0.006214 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625036 43625036 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:43625036C>A uc011lrb.1 - 4 3680 c.3651G>T c.(3649-3651)ATG>ATT p.M1217I NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1217 integral to membrane 0 GGCAAAGTGACATTTTCTTGT 0.483 NA 75 221 2.9056e-39 4.94165e-39 0.00361 1 0 FLJ43950 347127 broad.mit.edu 37 9 84531000 84531000 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:84531000G>A uc011lst.1 + 4 1022 c.921G>A c.(919-921)GAG>GAA p.E307E NR_026851 SubName: Full=cDNA FLJ43950 fis, clone TESTI4015293, moderately similar to FAM75-like protein; 0 CTTTTCCGGAGATGTTATCTC 0.488 NA 3 3 0 0 0.004672 0 0 FLJ46321 389763 broad.mit.edu 37 9 84607070 84607070 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:84607070C>G uc004amn.2 + 4 1732 c.1685C>G c.(1684-1686)CCC>CGC p.P562R NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 562 integral to membrane 0 CAACCACTACCCTTGCCTCAA 0.507 NA 15 136 0 0 0.006122 0 0 S1PR3 1903 broad.mit.edu 37 9 91616365 91616365 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:91616365T>C uc004aqe.2 + 2 646 c.250T>C c.(250-252)TGC>CGC p.C84R NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 84 Helical; Name=2; (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 CCTGGCTCTCTGCGACCTGCT 0.502 NA OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 70 0 0 0.004482 0 0 TMEFF1 8577 broad.mit.edu 37 9 103261150 103261150 + Silent SNP A A G rs150250818 TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:103261150A>G uc004baz.1 + 2 410 c.300A>G c.(298-300)CAA>CAG p.Q100Q TMEFF1_uc004bay.1_Silent_p.Q174Q NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two 100 Kazal-like 1.|Extracellular (Potential). multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) GTGCATGCCAATTTCAGGTGA 0.338 NA 25 37 0 0 0.003954 0 0 BAAT 570 broad.mit.edu 37 9 104124972 104124972 + Missense_Mutation SNP T T C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:104124972T>C uc010mtd.2 - 4 1104 c.995A>G c.(994-996)AAC>AGC p.N332S BAAT_uc004bbd.3_Missense_Mutation_p.N332S NM_001127610 NP_001121082 Q14032 BAAT_HUMAN bile acid Coenzyme A: amino acid 332 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TGCTTTGCTGTTGATAGTCTT 0.478 NA 5 48 0 0 0.000602 0 0 SVEP1 79987 broad.mit.edu 37 9 113168525 113168525 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:113168525G>A uc010mtz.2 - 38 9692 c.9355C>T c.(9355-9357)CCC>TCC p.P3119S SVEP1_uc010mty.2_Missense_Mutation_p.P1045S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3119 Sushi 28. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CAGGACAAGGGCTCACAGACT 0.502 NA 44 83 0 0 0.009718 0 0 SVEP1 79987 broad.mit.edu 37 9 113261339 113261339 + Nonsense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:113261339G>A uc010mtz.2 - 7 2000 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* SVEP1_uc010mua.1_Nonsense_Mutation_p.Q555*|SVEP1_uc004beu.2_Nonsense_Mutation_p.Q555* NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 555 Sushi 3. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ACAGCTGCCTGAACTCCGACA 0.418 NA 3 15 0 0 0.004672 0 0 TLR4 7099 broad.mit.edu 37 9 120475965 120475965 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:120475965C>A uc004bjz.2 + 3 1850 c.1559C>A c.(1558-1560)TCC>TAC p.S520Y TLR4_uc004bka.2_Missense_Mutation_p.S480Y|TLR4_uc004bkb.2_Missense_Mutation_p.S320Y NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 520 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AACTCACTCTCCAGTCTTCAG 0.433 NA 17 37 1.99824e-07 2.60106e-07 0.00499 1 0 PBX3 5090 broad.mit.edu 37 9 128678003 128678003 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:128678003G>T uc004bqb.2 + 3 429 c.313G>T c.(313-315)GAT>TAT p.D105Y PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Missense_Mutation_p.D30Y|PBX3_uc011lzx.1_Missense_Mutation_p.D16Y|PBX3_uc004bqe.2_5'UTR NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 105 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 GGACCCTCCCGATCCCCAGCT 0.458 NA 8 39 1.06961e-07 1.41068e-07 0.00308 1 0 ADAMTS13 11093 broad.mit.edu 37 9 136321309 136321309 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:136321309C>T uc004cdv.3 + 26 4131 c.3687C>T c.(3685-3687)GTC>GTT p.V1229V ADAMTS13_uc004cdp.3_Silent_p.V400V|ADAMTS13_uc004cdt.1_Silent_p.V1173V|ADAMTS13_uc004cdu.1_Silent_p.V1142V|ADAMTS13_uc004cdw.3_Silent_p.V1173V|ADAMTS13_uc004cdx.3_Silent_p.V1142V|ADAMTS13_uc004cdz.3_Silent_p.V899V|ADAMTS13_uc004cea.1_Silent_p.V25V|ADAMTS13_uc004ceb.3_Silent_p.V25V NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 1229 CUB 1. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCCTCCGCGTCCTTGAGAGTT 0.632 NA 10 45 0 0 0.008291 0 0 GPSM1 26086 broad.mit.edu 37 9 139250962 139250962 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:139250962A>G uc004chd.2 + 13 2001 c.1781A>G c.(1780-1782)GAG>GGG p.E594G GPSM1_uc011mdu.1_Missense_Mutation_p.E85G|GPSM1_uc004che.2_Missense_Mutation_p.E85G NM_001145638 NP_001139110 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 (AGS3-like, C. 594 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GAGCCCCAGGAGCCGGGGGAC 0.706 NA 4 36 0 0 0.001984 0 0 EHMT1 79813 broad.mit.edu 37 9 140611370 140611370 + Missense_Mutation SNP C C G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:140611370C>G uc011mfc.1 + 3 415 c.378C>G c.(376-378)ATC>ATG p.I126M EHMT1_uc004coa.2_Missense_Mutation_p.I126M|EHMT1_uc004cob.1_Missense_Mutation_p.I95M NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 126 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) ACGGATACATCTTAAATAAGC 0.547 NA 13 64 0 0 0.003163 0 0 ARSF 416 broad.mit.edu 37 X 2998960 2998960 + Silent SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:2998960C>A uc004cre.1 + 5 533 c.312C>A c.(310-312)GTC>GTA p.V104V ARSF_uc004crf.1_Silent_p.V104V NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 104 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATAGACGTGTCATCCAAAATC 0.403 NA 14 13 2.32078e-09 3.22511e-09 0.003163 1 0 NLGN4X 57502 broad.mit.edu 37 X 5827164 5827164 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:5827164C>A uc010ndh.2 - 4 1243 c.742G>T c.(742-744)GTG>TTG p.V248L NLGN4X_uc004crp.2_Missense_Mutation_p.V268L|NLGN4X_uc004crq.2_Missense_Mutation_p.V248L|NLGN4X_uc010ndi.2_Missense_Mutation_p.V285L|NLGN4X_uc004crr.2_Missense_Mutation_p.V248L|NLGN4X_uc010ndj.2_Missense_Mutation_p.V248L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 248 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AAGATGGTCACTCTCTTGGGG 0.592 NA 20 21 7.87624e-14 1.18909e-13 0.00278 1 0 FRMPD4 9758 broad.mit.edu 37 X 12736249 12736249 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:12736249G>A uc004cuz.1 + 16 3810 c.3304G>A c.(3304-3306)GCT>ACT p.A1102T FRMPD4_uc011mij.1_Missense_Mutation_p.A1094T NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1102 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGGTGGGATGGCTGAAAAAAG 0.502 NA 34 77 0 0 0.003271 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27765055 27765055 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:27765055G>A uc011mjy.1 + 1 130 c.43G>A c.(43-45)GGG>AGG p.G15R NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 ACCAGACTTAGGGACTGAAAG 0.552 NA 12 6 0 0 0.013537 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938104 29938104 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:29938104T>A uc004dby.2 + 8 1458 c.950T>A c.(949-951)ATC>AAC p.I317N NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 317 Extracellular (Potential).|Ig-like C2-type 3. 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 GAAGTTTCCATCTCATTAATT 0.393 NA 19 61 0 0 0.012319 0 0 CXorf21 80231 broad.mit.edu 37 X 30577751 30577751 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:30577751G>T uc004dcg.1 - 3 998 c.722C>A c.(721-723)GCG>GAG p.A241E NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 241 ovary(1) 1 GAGTTCAGACGCCAGAATCTG 0.438 NA 22 32 8.10497e-08 1.07502e-07 0.010504 1 0 DMD 1756 broad.mit.edu 37 X 32430021 32430021 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:32430021T>A uc004dda.1 - 30 4325 c.4081A>T c.(4081-4083)AGG>TGG p.R1361W DMD_uc004dcw.2_Missense_Mutation_p.R17W|DMD_uc004dcx.2_Missense_Mutation_p.R20W|DMD_uc004dcz.2_Missense_Mutation_p.R1238W|DMD_uc004dcy.1_Missense_Mutation_p.R1357W|DMD_uc004ddb.1_Missense_Mutation_p.R1353W|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1361 Spectrin 9. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AACTTTTGCCTCCTTACAGCC 0.398 NA 14 17 0 0 0.001855 0 0 FAM47B 170062 broad.mit.edu 37 X 34961437 34961437 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:34961437G>T uc004ddi.1 + 1 507 c.489G>T c.(487-489)TGG>TGT p.W163C NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 163 ovary(3)|breast(1) 4 AGGACGCTTGGGCTCGTTGTG 0.587 NA 11 12 0.00829132 0.00880795 0.008291 1 0 ZNF81 347344 broad.mit.edu 37 X 47775135 47775135 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:47775135G>T uc010nhy.1 + 6 1458 c.1090G>T c.(1090-1092)GGG>TGG p.G364W NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 364 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) CAATGAATGTGGGAAATCATT 0.383 NA 7 16 1.06961e-07 1.41068e-07 0.00308 1 0 PAGE2 203569 broad.mit.edu 37 X 55117812 55117812 + Nonsense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:55117812G>T uc004duf.1 + 4 295 c.241G>T c.(241-243)GAG>TAG p.E81* NM_207339 NP_997222 Q7Z2X7 GGEE2_HUMAN P antigen family, member 2 81 ovary(2) 2 GCTTAAGATAGAGGATGAGCC 0.403 NA 32 22 1.59932e-28 2.67447e-28 0.007835 1 0 ZC3H12B 340554 broad.mit.edu 37 X 64719040 64719040 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:64719040C>T uc010nko.2 + 3 886 c.877C>T c.(877-879)CTT>TTT p.L293F NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 293 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 CTACCGAGACCTTCAAGTTGA 0.428 NA 30 26 0 0 0.008361 0 0 HEPH 9843 broad.mit.edu 37 X 65413396 65413396 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:65413396T>A uc011moz.1 + 8 1354 c.1294T>A c.(1294-1296)TGG>AGG p.W432R HEPH_uc004dwn.2_Missense_Mutation_p.W432R|HEPH_uc004dwo.2_Missense_Mutation_p.W162R|HEPH_uc010nkr.2_Missense_Mutation_p.W432R|HEPH_uc011mpa.1_Missense_Mutation_p.W432R NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 429 Extracellular (Potential).|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GGGCACTTACTGGAAAGTGCG 0.373 NA 16 11 0 0 0.004007 0 0 SLC7A3 84889 broad.mit.edu 37 X 70148047 70148047 + Silent SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:70148047T>G uc004dyn.2 - 5 926 c.768A>C c.(766-768)GGA>GGC p.G256G SLC7A3_uc004dyo.2_Silent_p.G256G NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 256 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGGTCGCTGCTCCACGGAGAA 0.517 NA 4 12 0 0 0.001168 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139127 101139127 + Silent SNP T T G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:101139127T>G uc004eim.2 - 2 4257 c.759A>C c.(757-759)ACA>ACC p.T253T ZMAT1_uc011mrl.1_Silent_p.T424T|ZMAT1_uc004ein.2_Silent_p.T253T|ZMAT1_uc011mrm.1_Silent_p.T253T NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 253 nucleus zinc ion binding ovary(1) 1 TGTTCCTGTGTGTTTCTACAG 0.408 NA 42 61 0 0 0.013114 0 0 COL4A5 1287 broad.mit.edu 37 X 107930773 107930773 + Silent SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:107930773T>A uc004enz.1 + 48 4579 c.4377T>A c.(4375-4377)CCT>CCA p.P1459P COL4A5_uc011mso.1_Silent_p.P1456P|COL4A5_uc011msp.1_Silent_p.P135P NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1453 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CAGGTCCCCCTGGAACCTCCT 0.502 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 30 65 0 0 0.009535 0 0 AMOT 154796 broad.mit.edu 37 X 112054522 112054522 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:112054522C>A uc004epr.2 - 3 1492 c.1492G>T c.(1492-1494)GAG>TAG p.E498* AMOT_uc004eps.2_Nonsense_Mutation_p.E89*|AMOT_uc004ept.1_Nonsense_Mutation_p.E498* NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 498 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 ATCTCGCCCTCTAGCTTGTTT 0.512 NA 82 94 1.47272e-24 2.43941e-24 0.00361 1 0 LUZP4 51213 broad.mit.edu 37 X 114540964 114540964 + Missense_Mutation SNP G G T rs2232735 byFrequency TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:114540964G>T uc004eqa.2 + 4 571 c.537G>T c.(535-537)CAG>CAT p.Q179H LUZP4_uc004eqb.2_Missense_Mutation_p.Q97H NM_016383 NP_057467 Q9P127 LUZP4_HUMAN leucine zipper protein 4 179 nucleus ovary(2) 2 CTCAAGGGCAGCTAAAGAGAC 0.458 NA 29 36 9.80776e-20 1.57964e-19 0.00632 1 0 MAP7D3 79649 broad.mit.edu 37 X 135303096 135303096 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:135303096T>A uc004ezt.2 - 16 2405 c.2314A>T c.(2314-2316)ACC>TCC p.T772S MAP7D3_uc004ezs.2_Missense_Mutation_p.T736S|MAP7D3_uc011mwc.1_Missense_Mutation_p.T754S|MAP7D3_uc010nsa.1_Missense_Mutation_p.T730S NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 772 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TTAAATTTGGTAGGTGAGCCT 0.363 NA 128 113 0 0 0.00361 0 0 GPR112 139378 broad.mit.edu 37 X 135429849 135429849 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:135429849G>A uc004ezu.1 + 6 4275 c.3984G>A c.(3982-3984)TTG>TTA p.L1328L GPR112_uc010nsb.1_Silent_p.L1123L|GPR112_uc010nsc.1_Silent_p.L1095L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1328 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ATGGAAATTTGGCTTCATCTC 0.443 NA 37 22 0 0 0.003755 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994298 140994298 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:140994298C>A uc004fbt.2 + 4 1394 c.1108C>A c.(1108-1110)CAG>AAG p.Q370K MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 370 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GGGTTTTCCCCAGTCTCCTCT 0.468 NA HNSCC(15;0.026) 34 86 9.65963e-10 1.36131e-09 0.003271 1 0 AFF2 2334 broad.mit.edu 37 X 147743642 147743642 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:147743642C>A uc004fcp.2 + 3 873 c.394C>A c.(394-396)CCT>ACT p.P132T AFF2_uc004fco.2_Missense_Mutation_p.P128T|AFF2_uc004fcq.2_Missense_Mutation_p.P128T|AFF2_uc004fcr.2_Missense_Mutation_p.P128T|AFF2_uc011mxb.1_Missense_Mutation_p.P132T|AFF2_uc004fcs.2_Missense_Mutation_p.P128T NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 132 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TAATACCCATCCTTCAGCACC 0.398 NA 65 168 2.18329e-32 3.68627e-32 0.00361 1 0 MAGEA10 4109 broad.mit.edu 37 X 151302988 151302988 + Nonsense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:151302988C>A uc004ffk.2 - 5 1513 c.1105G>T c.(1105-1107)GAA>TAA p.E369* MAGEA10_uc004ffl.2_Nonsense_Mutation_p.E369* NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 369 0 Acute lymphoblastic leukemia(192;6.56e-05) TTACTTTATTCAGGGTAGGAG 0.323 NA 18 62 3.51602e-12 5.1524e-12 0.008871 1 0 ATP2B3 492 broad.mit.edu 37 X 152814197 152814197 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:152814197C>T uc004fht.1 + 8 1349 c.1223C>T c.(1222-1224)CCG>CTG p.P408L ATP2B3_uc004fhs.1_Missense_Mutation_p.P408L NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 408 Extracellular (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGTGCACGCCGGTCTATGTA 0.542 NA 32 25 0 0 0.012213 0 0 BRCC3 79184 broad.mit.edu 37 X 154299836 154299836 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:154299836G>T uc004fna.2 + 1 127 c.34G>T c.(34-36)GTT>TTT p.V12F MTCP1NB_uc004fmy.2_5'Flank|MTCP1_uc004fmz.2_5'Flank|BRCC3_uc011mzy.1_Missense_Mutation_p.V12F|BRCC3_uc011mzz.1_RNA|BRCC3_uc004fnb.2_Missense_Mutation_p.V12F NM_024332 NP_077308 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 12 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(3)|ovary(1)|large_intestine(1)|breast(1) 6 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ggtgcaggcggtTCATCTCGA 0.502 NA 8 2 5.18039e-06 6.31954e-06 0.00308 1 0 AMELY 266 broad.mit.edu 37 Y 6736316 6736316 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrY:6736316G>T uc004fra.1 - 5 389 c.377C>A c.(376-378)CCA>CAA p.P126Q AMELY_uc004fqz.2_Missense_Mutation_p.P112Q NM_001143 NP_001134 Q99218 AMELY_HUMAN amelogenin, Y-linked precursor 126 Gln-rich. biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel 0 GTGTTGGGTTGGAGTCATGGA 0.632 NA 21 21 1.2644e-06 1.59823e-06 0.010504 1 0 EPHA8 2046 broad.mit.edu 37 1 22902862 22902870 + In_Frame_Del DEL CCTGCGCGA CCTGCGCGA - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 CCTGCGCGA CCTGCGCGA - - CCTGCGCGA CCTGCGCGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:22902862_22902870delCCTGCGCGA uc001bfx.1 + 3 437_445 c.312_320delCCTGCGCGA c.(310-321)ACCCTGCGCGAC>ACC p.LRD105del EPHA8_uc001bfw.2_In_Frame_Del_p.LRD105del NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 105_107 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCAAGTTTACCCTGCGCGACTGCAACAGC 0.617 NA 16 32 --- --- --- --- NA NA NA NA NA KCNT2 343450 broad.mit.edu 37 1 196303087 196303087 + Frame_Shift_Del DEL A A - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr1:196303087delA uc001gtd.1 - 17 1947 c.1887delT c.(1885-1887)ATTfs p.I629fs KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Frame_Shift_Del_p.I579fs|KCNT2_uc001gtf.1_Frame_Shift_Del_p.I629fs|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Frame_Shift_Del_p.I629fs|KCNT2_uc001gth.1_Frame_Shift_Del_p.I150fs NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 629 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 AAACAGGAGCAATGCTAGGTC 0.418 NA 11 48 --- --- --- --- NA NA NA NA NA CACNB2 783 broad.mit.edu 37 10 18789826 18789850 + Frame_Shift_Del DEL ACATGAGGCTGCAGCATGAACAGAG ACATGAGGCTGCAGCATGAACAGAG - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 ACATGAGGCTGCAGCATGAACAGAG ACATGAGGCTGCAGCATGAACAGAG - - ACATGAGGCTGCAGCATGAACAGAG ACATGAGGCTGCAGCATGAACAGAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:18789826_18789850delACATGAGGCTGCAGCATGAACAGAG uc001ipr.2 + 5 602_626 c.542_566delACATGAGGCTGCAGCATGAACAGAG c.(541-567)AACATGAGGCTGCAGCATGAACAGAGAfs p.N181fs CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Frame_Shift_Del_p.N181fs|CACNB2_uc001ipt.2_Frame_Shift_Del_p.N181fs|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Frame_Shift_Del_p.N153fs|CACNB2_uc001ipv.2_Frame_Shift_Del_p.N153fs|CACNB2_uc009xka.1_Frame_Shift_Del_p.N153fs|CACNB2_uc001ipw.2_Frame_Shift_Del_p.N126fs|CACNB2_uc001ipx.2_Frame_Shift_Del_p.N126fs|CACNB2_uc009xkb.1_Frame_Shift_Del_p.N127fs|CACNB2_uc010qcm.1_Frame_Shift_Del_p.N127fs|CACNB2_uc001ipz.2_Frame_Shift_Del_p.N127fs|CACNB2_uc001ipy.2_Frame_Shift_Del_p.N127fs|CACNB2_uc010qcn.1_Frame_Shift_Del_p.N133fs|CACNB2_uc010qco.1_Frame_Shift_Del_p.N133fs|CACNB2_uc001iqa.2_Frame_Shift_Del_p.N133fs NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 181_189 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAACTAGAAAACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAA 0.4 NA 13 58 --- --- --- --- NA NA NA NA NA C10orf71 118461 broad.mit.edu 37 10 50530859 50530859 + Frame_Shift_Del DEL C C - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr10:50530859delC uc010qgp.1 + 3 608 c.269delC c.(268-270)ACGfs p.T90fs NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 90 0 TCACAGGGCACGGAACATTCG 0.577 NA 19 64 --- --- --- --- NA NA NA NA NA OR5J2 282775 broad.mit.edu 37 11 55944383 55944383 + Frame_Shift_Del DEL G G - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:55944383delG uc010rjb.1 + 1 290 c.290delG c.(289-291)TGCfs p.C97fs NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TTCTCTGCTTGCATGGTACAG 0.468 NA 13 41 --- --- --- --- NA NA NA NA NA C11orf63 79864 broad.mit.edu 37 11 122775073 122775074 + Frame_Shift_Ins INS - - T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr11:122775073_122775074insT uc001pym.2 + 3 1082_1083 c.785_786insT c.(784-786)ACTfs p.T262fs C11orf63_uc001pyl.1_Frame_Shift_Ins_p.T262fs NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 262 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AACAAGCTCACTTTGGGATTAC 0.441 NA 54 311 --- --- --- --- NA NA NA NA NA SRRM2 23524 broad.mit.edu 37 16 2813458 2813458 + Frame_Shift_Del DEL A A - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:2813458delA uc002crk.2 + 11 3478 c.2929delA c.(2929-2931)ACCfs p.T977fs SRRM2_uc002crj.1_Frame_Shift_Del_p.T881fs|SRRM2_uc002crl.1_Frame_Shift_Del_p.T977fs|SRRM2_uc010bsu.1_Frame_Shift_Del_p.T881fs NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 977 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CTCACCAGATACCAAAGTGAA 0.498 NA 25 202 --- --- --- --- NA NA NA NA NA CLEC18B 497190 broad.mit.edu 37 16 74447479 74447479 + Frame_Shift_Del DEL G G - rs149591176 byFrequency TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr16:74447479delG uc002fct.2 - 4 752 c.552delC c.(550-552)CCCfs p.P184fs CLEC18B_uc002fcu.2_Frame_Shift_Del_p.P184fs|CLEC18B_uc010vmu.1_Frame_Shift_Del_p.P104fs|CLEC18B_uc010vmw.1_Frame_Shift_Del_p.P184fs|CLEC18B_uc010vmv.1_5'Flank NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 184 extracellular region sugar binding 0 GGGCTTACCCGGGGGAGTAGG 0.607 NA 9 127 --- --- --- --- NA NA NA NA NA BLMH 642 broad.mit.edu 37 17 28599581 28599582 + Frame_Shift_Ins INS - - T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:28599581_28599582insT uc002hez.1 - 9 1262_1263 c.1025_1026insA c.(1024-1026)AATfs p.N342fs BLMH_uc010wbn.1_Frame_Shift_Ins_p.N255fs NM_000386 NP_000377 Q13867 BLMH_HUMAN bleomycin hydrolase 342 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding ovary(1) 1 GCACTCACAGATTCATGTCACT 0.426 Pancreas(127;628 1772 12912 33293 36203) NA 75 278 --- --- --- --- NA NA NA NA NA COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - - T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:55028117_55028118insT uc002iuu.2 - 2 516_517 c.485_486insA c.(484-486)AACfs p.N162fs NM_004645 NP_004636 P38432 COIL_HUMAN coilin 162 Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) TTTTTCTCTTGTTTTTTTTGCT 0.366 NA 8 279 --- --- --- --- NA NA NA NA NA GGA3 23163 broad.mit.edu 37 17 73235600 73235601 + In_Frame_Ins INS - - GGT rs150787028 by1000genomes TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr17:73235600_73235601insGGT uc002jni.1 - 14 1644_1645 c.1635_1636insACC c.(1633-1638)insACC p.545_546insT GGA3_uc002jnj.1_In_Frame_Ins_p.512_513insT|GGA3_uc010wrw.1_In_Frame_Ins_p.423_424insT|GGA3_uc002jnk.1_In_Frame_Ins_p.473_474insT|GGA3_uc010wrx.1_In_Frame_Ins_p.423_424insT|GGA3_uc010wry.1_In_Frame_Ins_p.473_474insT NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 545_546 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGCCTGGCTGGGGTGGTGGTGG 0.673 NA OREG0024729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 5 --- --- --- --- NA NA NA NA NA ROCK1 6093 broad.mit.edu 37 18 18622550 18622550 + Frame_Shift_Del DEL C C - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr18:18622550delC uc002kte.2 - 7 1737 c.796delG c.(796-798)GTAfs p.V266fs NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 266 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TATAAAAATACCCCAACCGAC 0.383 NA 7 35 --- --- --- --- NA NA NA NA NA MAN2B1 4125 broad.mit.edu 37 19 12774515 12774515 + Splice_Site DEL A A - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr19:12774515delA uc002mub.2 - 5 839 c.763_splice c.e5+1 p.G255_splice MAN2B1_uc010dyv.1_Splice_Site_p.G255_splice NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 CAAGCCCCCTACCAGTGAAGA 0.398 NA 5 11 --- --- --- --- NA NA NA NA NA PSME4 23198 broad.mit.edu 37 2 54122188 54122188 + Frame_Shift_Del DEL C C - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:54122188delC uc002rxp.2 - 34 3924 c.3868delG c.(3868-3870)GAAfs p.E1290fs PSME4_uc010yop.1_Frame_Shift_Del_p.E1176fs|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Frame_Shift_Del_p.E665fs|PSME4_uc010fbv.1_Frame_Shift_Del_p.E434fs NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1290 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGCTGCTCTTCCACACCAGCA 0.378 NA 11 153 --- --- --- --- NA NA NA NA NA TTN 7273 broad.mit.edu 37 2 179597015 179597015 + Frame_Shift_Del DEL T T - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr2:179597015delT uc010zfg.1 - 54 13173 c.12949delA c.(12949-12951)ACCfs p.T4317fs TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.T978fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5244 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) GCTAGCTGGGTGGCATCTCCC 0.408 NA 15 142 --- --- --- --- NA NA NA NA NA SUN5 140732 broad.mit.edu 37 20 31577467 31577467 + Frame_Shift_Del DEL C C - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr20:31577467delC uc002wyi.2 - 9 665 c.572delG c.(571-573)GGAfs p.G191fs NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 191 spermatogenesis skin(1) 1 GATGTAATCTCCGTGTATCAT 0.488 NA 12 71 --- --- --- --- NA NA NA NA NA MYH9 4627 broad.mit.edu 37 22 36737461 36737462 + Frame_Shift_Ins INS - - G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr22:36737461_36737462insG uc003apg.2 - 3 674_675 c.443_444insC c.(442-444)CCTfs p.P148fs MYH9_uc003aph.1_Frame_Shift_Ins_p.P12fs|MYH9_uc003api.1_Frame_Shift_Ins_p.P148fs NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 148 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CATAGATGTGAGGGGGCATCTC 0.53 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 12 115 --- --- --- --- NA NA NA NA NA PHF15 23338 broad.mit.edu 37 5 133914622 133914622 + Frame_Shift_Del DEL A A - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr5:133914622delA uc003kzo.1 + 11 2167 c.1988delA c.(1987-1989)GACfs p.D663fs PHF15_uc011cxt.1_Frame_Shift_Del_p.D707fs|PHF15_uc003kzk.2_Frame_Shift_Del_p.D723fs|PHF15_uc003kzm.2_Frame_Shift_Del_p.D664fs|PHF15_uc003kzn.2_3'UTR NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 663 Pro-rich. histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCAGCCGGGGACTGTCCCATC 0.657 NA 25 127 --- --- --- --- NA NA NA NA NA PTCD1 26024 broad.mit.edu 37 7 99031015 99031016 + Frame_Shift_Ins INS - - A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:99031015_99031016insA uc003uqh.2 - 3 610_611 c.479_480insT c.(478-480)GAGfs p.E160fs PTCD1_uc011kiw.1_Frame_Shift_Ins_p.E209fs NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 160 PPR 1. ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCATCTGCCTCTCAAACAGGTC 0.604 NA 70 120 --- --- --- --- NA NA NA NA NA AGAP3 116988 broad.mit.edu 37 7 150839627 150839628 + Frame_Shift_Ins INS - - T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr7:150839627_150839628insT uc003wjg.1 + 16 2182_2183 c.2179_2180insT c.(2179-2181)CTGfs p.L727fs AGAP3_uc003wje.1_Frame_Shift_Ins_p.L396fs|AGAP3_uc003wjj.1_Frame_Shift_Ins_p.L226fs|AGAP3_uc003wjk.1_Frame_Shift_Ins_p.L145fs NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 691 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GCCTGAGCTGCTGGCTGTCATG 0.649 NA 17 135 --- --- --- --- NA NA NA NA NA TEX15 56154 broad.mit.edu 37 8 30701975 30701975 + Frame_Shift_Del DEL T T - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr8:30701975delT uc003xil.2 - 1 4559 c.4559delA c.(4558-4560)AATfs p.N1520fs NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1520 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGTGGTAGTATTTTTAGTGCT 0.353 NA 23 111 --- --- --- --- NA NA NA NA NA HRCT1 646962 broad.mit.edu 37 9 35906598 35906599 + In_Frame_Ins INS - - CCC TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chr9:35906598_35906599insCCC uc003zyr.1 + 1 410_411 c.314_315insCCC c.(313-315)CAC>CACCCC p.106_107insP LOC158376_uc003zys.1_5'Flank NM_001039792 NP_001034881 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 106_107 His-rich. integral to membrane 0 caccaccaccacccccaccgcc 0.386 NA 3 6 --- --- --- --- NA NA NA NA NA ATP11C 286410 broad.mit.edu 37 X 138827926 138827926 + Frame_Shift_Del DEL C C - TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83519ed1-29e2-4f1b-922c-5779f64178bc 8709a767-d5d1-4ab8-aa7a-085c742d1e85 g.chrX:138827926delC uc004faz.2 - 25 3027 c.2928delG c.(2926-2928)GGGfs p.G976fs ATP11C_uc004fax.2_Frame_Shift_Del_p.G184fs|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Frame_Shift_Del_p.G976fs NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 976 Helical; (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) GAAAGTAAGTCCCAAAGAAGA 0.388 NA 11 27 --- --- --- --- NA NA NA NA NA