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 SKI 6497 broad.mit.edu 37 1 2160515 2160515 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:2160515G>C uc001aja.3 + 1 382 c.310G>C c.(310-312)GTA>CTA p.V104L NM_003036 NP_003027 P12755 SKI_HUMAN v-ski sarcoma viral oncogene homolog 104 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CTGCGAGACCGTACTGGAAGG 0.692 Ovarian(177;144 1678 13697 20086 27838 40755) NA 5 10 0 0 0.000602 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3390072 3390072 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:3390072C>G uc001akg.3 + 8 1539 c.1291C>G c.(1291-1293)CCC>GCC p.P431A ARHGEF16_uc001aki.2_Missense_Mutation_p.P143A|ARHGEF16_uc001akj.2_Missense_Mutation_p.P143A|ARHGEF16_uc009vli.1_Missense_Mutation_p.P135A|ARHGEF16_uc010nzh.1_Missense_Mutation_p.P135A NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 431 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GACCCGGCTGCCCCTCCTGAT 0.682 NA 23 49 0 0 0.00632 0 0 GMEB1 10691 broad.mit.edu 37 1 29030804 29030804 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:29030804T>C uc001bra.2 + 8 999 c.861T>C c.(859-861)GTT>GTC p.V287V GMEB1_uc001bqz.2_Silent_p.V277V|GMEB1_uc001brb.2_Silent_p.V277V NM_006582 NP_006573 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TCAGGGGAGTTCAGCAGCGGC 0.468 NA 10 62 0 0 0.001368 0 0 CSMD2 114784 broad.mit.edu 37 1 34276467 34276467 + Splice_Site SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:34276467T>A uc001bxn.1 - 10 1234 c.1205_splice c.e10-1 p.A402_splice CSMD2_uc001bxm.1_Splice_Site_p.A442_splice NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACATGCGGGCTGCAGAGGAGA 0.532 NA 11 85 0 0 0.008291 0 0 ZMYM4 9202 broad.mit.edu 37 1 35881308 35881308 + Silent SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:35881308A>T uc001byt.2 + 28 4382 c.4302A>T c.(4300-4302)TCA>TCT p.S1434S ZMYM4_uc009vuu.2_Silent_p.S1402S|ZMYM4_uc001byu.2_Silent_p.S1110S|ZMYM4_uc009vuv.2_Silent_p.S1173S NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 1434 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCAGGAGTCAGAACCAGGTA 0.413 NA 19 40 0 0 0.007413 0 0 RHBDL2 54933 broad.mit.edu 37 1 39352280 39352280 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:39352280T>C uc001ccu.1 - 8 1036 c.808A>G c.(808-810)AAA>GAA p.K270E RHBDL2_uc010oin.1_3'UTR|RHBDL2_uc010oio.1_Missense_Mutation_p.K350E NM_017821 NP_060291 Q9NX52 RHBL2_HUMAN rhomboid protease 2 270 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) AGCAGTGCTTTATCAAAGCAG 0.418 NA 10 94 0 0 0.000978 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050182 42050182 + Missense_Mutation SNP G G T rs142189176 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:42050182G>T uc001cgz.3 - 4 1500 c.287C>A c.(286-288)CCG>CAG p.P96Q HIVEP3_uc001cha.3_Missense_Mutation_p.P96Q|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 96 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGGTGCTGCGGAAGCTGTGA 0.587 NA 63 183 1.35869e-18 2.15825e-18 0.00361 1 0 CCDC30 728621 broad.mit.edu 37 1 43002166 43002166 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:43002166A>G uc009vwk.1 + 2 121 c.11A>G c.(10-12)GAA>GGA p.E4G CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.E4G NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 4 0 ATGAGCCAAGAAAAAAATGAA 0.333 NA 10 62 0 0 0.008291 0 0 FAF1 11124 broad.mit.edu 37 1 51001120 51001120 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:51001120G>A uc009vyx.1 - 16 1478 c.1415C>T c.(1414-1416)ACA>ATA p.T472I FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.T472I|FAF1_uc010onc.1_Missense_Mutation_p.T230I NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 472 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CTCATCTACTGTTGTGTTCCC 0.328 NA 13 67 0 0 0.001368 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927203 53927203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:53927203C>A uc001cvq.1 + 2 690 c.635C>A c.(634-636)TCC>TAC p.S212Y NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 212 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CCTGGTGGCTCCAGCATGCAC 0.652 NA 16 120 1.15088e-07 1.47328e-07 0.004007 1 0 CACHD1 57685 broad.mit.edu 37 1 65119459 65119459 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:65119459C>T uc001dbo.1 + 11 1511 c.1406C>T c.(1405-1407)CCA>CTA p.P469L CACHD1_uc001dbp.1_Missense_Mutation_p.P224L|CACHD1_uc001dbq.1_Missense_Mutation_p.P224L NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 520 Extracellular (Potential).|Cache 1. calcium ion transport integral to membrane ovary(2) 2 CTTATGCACCCATCTCTTACC 0.338 NA 13 212 0 0 0.001855 0 0 CTH 1491 broad.mit.edu 37 1 70904452 70904452 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:70904452G>T uc001dfd.2 + 11 1278 c.1134G>T c.(1132-1134)GTG>GTT p.V378V CTH_uc001dfe.2_Silent_p.V334V|CTH_uc010oqq.1_Silent_p.V346V NM_001902 NP_001893 P32929 CGL_HUMAN cystathionase isoform 1 378 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding lung(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GACTTTCTGTGGGCTTAGAGG 0.358 NA 30 89 1.62565e-12 2.35719e-12 0.002445 1 0 C1orf173 127254 broad.mit.edu 37 1 75037302 75037302 + Silent SNP C C T rs4366277 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:75037302C>T uc001dgg.2 - 14 4311 c.4092G>A c.(4090-4092)GAG>GAA p.E1364E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1364 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCTCGGCTGTCTCCGAACCTG 0.517 NA 46 120 0 0 0.00361 0 0 LPHN2 23266 broad.mit.edu 37 1 82417712 82417712 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:82417712T>C uc001dit.3 + 9 1849 c.1668T>C c.(1666-1668)GCT>GCC p.A556A LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.A556A|LPHN2_uc001div.2_Silent_p.A556A|LPHN2_uc009wcd.2_Silent_p.A556A|LPHN2_uc001diw.2_Silent_p.A127A NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 556 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAGTGTTTGCTGGGGATGTAA 0.428 NA 12 74 0 0 0.001368 0 0 LPHN2 23266 broad.mit.edu 37 1 82421638 82421638 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:82421638A>G uc001dit.3 + 10 2041 c.1860A>G c.(1858-1860)CAA>CAG p.Q620Q LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.Q620Q|LPHN2_uc001div.2_Silent_p.Q620Q|LPHN2_uc009wcd.2_Silent_p.Q620Q|LPHN2_uc001diw.2_Silent_p.Q204Q NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 633 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTTCTGAACAAGCACATACTG 0.403 NA 17 99 0 0 0.006122 0 0 WDR63 126820 broad.mit.edu 37 1 85592345 85592345 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:85592345C>A uc001dkt.2 + 20 2455 c.2264C>A c.(2263-2265)TCT>TAT p.S755Y WDR63_uc009wcl.2_Missense_Mutation_p.S716Y NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 755 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CCAGCCCAGTCTCAAAACATT 0.433 NA 17 91 3.32936e-07 4.19088e-07 0.006122 1 0 TGFBR3 7049 broad.mit.edu 37 1 92200438 92200438 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:92200438G>T uc001doh.2 - 5 929 c.463C>A c.(463-465)CAT>AAT p.H155N TGFBR3_uc009wde.2_5'UTR|TGFBR3_uc010osy.1_Missense_Mutation_p.H113N|TGFBR3_uc001doi.2_Missense_Mutation_p.H155N|TGFBR3_uc001doj.2_Missense_Mutation_p.H155N NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 155 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCATTTCCATGGGGGAAGTTC 0.418 NA 52 202 9.22156e-22 1.52814e-21 0.00361 1 0 TGFBR3 7049 broad.mit.edu 37 1 92224265 92224265 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:92224265G>T uc001doh.2 - 4 755 c.289C>A c.(289-291)CAC>AAC p.H97N TGFBR3_uc009wde.2_5'UTR|TGFBR3_uc010osy.1_Missense_Mutation_p.H55N|TGFBR3_uc001doi.2_Missense_Mutation_p.H97N|TGFBR3_uc001doj.2_Missense_Mutation_p.H97N NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 97 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ACAGACTTGTGGTGGATGTGG 0.507 NA 13 128 7.03913e-09 9.36067e-09 0.001368 1 0 GLMN 11146 broad.mit.edu 37 1 92712203 92712203 + Missense_Mutation SNP C C A rs112947595 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:92712203C>A uc001dor.2 - 19 1784 c.1669G>T c.(1669-1671)GTC>TTC p.V557F GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.V543F NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 557 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) GAATGCAGGACCTGCAATGCC 0.348 NA Multiple_Glomus_Tumors_(of_the_Skin)_Familial 3 40 0.004672 0.00490625 0.004672 1 0 GFI1 2672 broad.mit.edu 37 1 92948935 92948935 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:92948935C>G uc001dou.3 - 2 274 c.110G>C c.(109-111)CGA>CCA p.R37P GFI1_uc001dov.3_Missense_Mutation_p.R37P|GFI1_uc001dow.3_Missense_Mutation_p.R37P NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 37 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) CGCACCTGCTCGGCTAGGCGC 0.647 NA 7 21 0 0 0.004482 0 0 ABCA4 24 broad.mit.edu 37 1 94502755 94502755 + Silent SNP C C A rs147884766 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:94502755C>A uc001dqh.2 - 25 3863 c.3759G>T c.(3757-3759)ACG>ACT p.T1253T NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1253 Cytoplasmic. T -> M (in FFM; could be a rare polymorphism). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGTCAGCCAGCGTCTCCTCCA 0.483 NA 21 105 3.62473e-10 4.96016e-10 0.001882 1 0 SNX7 51375 broad.mit.edu 37 1 99161072 99161072 + Splice_Site SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:99161072A>T uc010ouc.1 + 5 692 c.640_splice c.e5-2 p.E214_splice SNX7_uc001dsa.2_Splice_Site_p.E150_splice|SNX7_uc010oud.1_Splice_Site_p.E159_splice NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TTTTGTTTCTAGGAACTCTCT 0.393 NA 18 45 0 0 0.007413 0 0 LPPR4 9890 broad.mit.edu 37 1 99753654 99753654 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:99753654C>A uc001dse.2 + 2 462 c.356C>A c.(355-357)GCA>GAA p.A119E LPPR4_uc010oue.1_Missense_Mutation_p.A119E NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 119 Helical; (Potential). phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ACCCAGGAGGCAATTCCATTC 0.438 NA 32 97 8.16721e-17 1.26971e-16 0.002096 1 0 SLC25A24 29957 broad.mit.edu 37 1 108728465 108728465 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:108728465C>A uc001dvn.3 - 2 509 c.295G>T c.(295-297)GAC>TAC p.D99Y SLC25A24_uc001dvm.2_Missense_Mutation_p.D80Y NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN solute carrier family 25 member 24 isoform 1 99 EF-hand 3.|3 (Potential).|Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1) 1 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TTATTTTTGTCTAAACTCTTA 0.318 NA 4 24 0.00909568 0.00944648 0.009096 1 0 GSTM3 2947 broad.mit.edu 37 1 110280799 110280799 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:110280799C>T uc001dyo.2 - 6 596 c.286G>A c.(286-288)GAA>AAA p.E96K GSTM3_uc001dyp.2_Missense_Mutation_p.E93K|GSTM3_uc010ovv.1_Missense_Mutation_p.E96K NM_000849 NP_000840 P21266 GSTM3_HUMAN glutathione S-transferase mu 3 96 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding 0 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) ATCTTTTCTTCTTCAGTCTCA 0.488 NA 7 50 0 0 0.001984 0 0 UBL4B 164153 broad.mit.edu 37 1 110655635 110655635 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:110655635G>T uc001dzc.2 + 1 574 c.479G>T c.(478-480)AGC>ATC p.S160I NM_203412 NP_981957 Q8N7F7 UBL4B_HUMAN ubiquitin-like 4B 160 cytoplasm ovary(1) 1 all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134) CGGCCTCAGAGCTCCTGTGAC 0.597 NA 5 24 5.9392e-07 7.40191e-07 0.001168 1 0 SLC6A17 388662 broad.mit.edu 37 1 110737302 110737302 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:110737302C>T uc009wfq.2 + 9 1862 c.1401C>T c.(1399-1401)ATC>ATT p.I467I SLC6A17_uc001dze.1_Silent_p.I65I NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 467 Helical; Name=8; (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TGATGCTTATCAACCTGGGCC 0.592 NA 10 50 0 0 0.000978 0 0 RBM15 64783 broad.mit.edu 37 1 110883936 110883936 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:110883936G>T uc001dzl.1 + 1 1992 c.1909G>T c.(1909-1911)GAC>TAC p.D637Y RBM15_uc001dzm.1_Missense_Mutation_p.D637Y|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 637 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGCAGCAGAGACCAGCCTAG 0.592 NA T MKL1 acute megakaryocytic leukemia 11 32 1.58986e-06 1.92726e-06 0.008291 1 0 PTGFRN 5738 broad.mit.edu 37 1 117492063 117492063 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:117492063G>T uc001egv.1 + 4 1219 c.1082G>T c.(1081-1083)CGG>CTG p.R361L NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 361 Ig-like C2-type 3.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TTACTGGTTCGGGATGTTAGC 0.562 NA 29 91 1.39806e-14 2.11249e-14 0.008361 1 0 CD101 9398 broad.mit.edu 37 1 117568211 117568211 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:117568211G>A uc010oxb.1 + 8 2567 c.2509G>A c.(2509-2511)GAG>AAG p.E837K CD101_uc009whd.2_Missense_Mutation_p.E837K|CD101_uc010oxc.1_Missense_Mutation_p.E837K|CD101_uc010oxd.1_Missense_Mutation_p.E775K NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 837 Ig-like C2-type 7.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CTGCAGCCTGGAGAGTGTAGG 0.478 NA 9 80 0 0 0.006214 0 0 ADAM30 11085 broad.mit.edu 37 1 120437773 120437773 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:120437773C>T uc001eij.2 - 1 1341 c.1187G>A c.(1186-1188)GGT>GAT p.G396D NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 396 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAGCACATAACCTAGTCCTGG 0.418 NA 19 213 0 0 0.007413 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859821 144859821 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:144859821G>A uc001elw.3 - 38 6554 c.6263C>T c.(6262-6264)TCC>TTC p.S2088F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1982F|PDE4DIP_uc001elv.3_Missense_Mutation_p.S1095F NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2088 Missing (in Ref. 4; CAH18128). cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTAATGGAGGAGGGGCTGAG 0.572 NA T PDGFRB MPD 12 92 0 0 0.001855 0 0 RPRD2 23248 broad.mit.edu 37 1 150432716 150432716 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:150432716T>G uc009wlr.2 + 9 1535 c.1334T>G c.(1333-1335)TTG>TGG p.L445W RPRD2_uc010pcc.1_Missense_Mutation_p.L419W|RPRD2_uc001eup.3_Missense_Mutation_p.L419W NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 445 protein binding ovary(1) 1 GCATTGGCTTTGCCAAACCTG 0.473 NA 9 26 0 0 0.004482 0 0 TCHH 7062 broad.mit.edu 37 1 152082377 152082377 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152082377G>C uc001ezp.2 - 2 3316 c.3316C>G c.(3316-3318)CGG>GGG p.R1106G TCHH_uc009wne.1_Missense_Mutation_p.R1106G NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1106 10 X 30 AA tandem repeats.|4-7. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCTCTCCCGCTCCTGGCGC 0.174 NA 42 193 0 0 0.002522 0 0 FLG 2312 broad.mit.edu 37 1 152281931 152281931 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152281931C>G uc001ezu.1 - 3 5467 c.5431G>C c.(5431-5433)GAC>CAC p.D1811H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1811 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGAATGGTGTCCTGACCCTCT 0.597 NA Ichthyosis 38 709 0 0 0.007835 0 0 FLG2 388698 broad.mit.edu 37 1 152325946 152325946 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152325946C>A uc001ezw.3 - 3 4389 c.4316G>T c.(4315-4317)AGA>ATA p.R1439I uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1439 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) TGATTGTGGTCTGTGTGAGCC 0.527 NA 159 396 6.28038e-61 1.10899e-60 0.00361 1 0 FLG2 388698 broad.mit.edu 37 1 152327665 152327665 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152327665C>T uc001ezw.3 - 3 2670 c.2597G>A c.(2596-2598)GGA>GAA p.G866E uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 866 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) AGATGTCTGTCCCGAACTTGA 0.493 NA 176 544 0 0 0.00361 0 0 LCE2D 353141 broad.mit.edu 37 1 152636817 152636817 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152636817G>T uc001fag.2 + 2 291 c.236G>T c.(235-237)CGT>CTT p.R79L NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 79 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CACAGGCCCCGTCTCTTCCAC 0.682 NA 55 143 4.09106e-26 6.93183e-26 0.00361 1 0 KPRP 448834 broad.mit.edu 37 1 152732605 152732605 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152732605C>A uc001fal.1 + 2 599 c.541C>A c.(541-543)CAG>AAG p.Q181K NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 181 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATTCTCCACCCAGTGCCAGTA 0.557 NA 46 139 3.05275e-18 4.83565e-18 0.003214 1 0 UBAP2L 9898 broad.mit.edu 37 1 154201188 154201188 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:154201188G>T uc001fep.3 + 4 433 c.266G>T c.(265-267)GGA>GTA p.G89V UBAP2L_uc009wot.2_Missense_Mutation_p.G89V|UBAP2L_uc010pek.1_Missense_Mutation_p.G88V|UBAP2L_uc010pel.1_Missense_Mutation_p.G88V|UBAP2L_uc001fen.1_Missense_Mutation_p.G88V|UBAP2L_uc010pem.1_Missense_Mutation_p.G88V|UBAP2L_uc010pen.1_5'UTR NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 89 UBA. binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTCTGGAAGGAAACCCAGAC 0.423 NA 12 104 4.3838e-07 5.49981e-07 0.001855 1 0 ATP8B2 57198 broad.mit.edu 37 1 154313336 154313336 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:154313336G>T uc001fex.2 + 13 1140 c.1140G>T c.(1138-1140)GAG>GAT p.E380D NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 366 Helical; (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCAGTGTGGAGGTCATCCGTC 0.607 NA 39 91 9.14704e-12 1.3087e-11 0.00874 1 0 PBXIP1 57326 broad.mit.edu 37 1 154920756 154920756 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:154920756C>T uc001ffr.2 - 6 555 c.496G>A c.(496-498)GAG>AAG p.E166K PBXIP1_uc001ffs.2_Missense_Mutation_p.E137K|PBXIP1_uc010pep.1_Missense_Mutation_p.E11K NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 166 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGCCGGCCTCCCGGCCCCGC 0.682 NA 6 11 0 0 0.00308 0 0 SYT11 23208 broad.mit.edu 37 1 155851068 155851068 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:155851068G>C uc001fmg.2 + 4 1328 c.1065G>C c.(1063-1065)TTG>TTC p.L355F SYT11_uc010pgq.1_Missense_Mutation_p.L48F NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 355 C2 2.|Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) AGTGCACTTTGAACCCCATCT 0.483 NA 138 421 0 0 0.00361 0 0 FCRL1 115350 broad.mit.edu 37 1 157765932 157765932 + Missense_Mutation SNP C C A rs147036979 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:157765932C>A uc001frg.2 - 11 1360 c.1247G>T c.(1246-1248)AGG>ATG p.R416M FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.R415M|FCRL1_uc001fri.2_3'UTR|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 416 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTTTGCTTTCCTCAGCCTGGA 0.468 GBM(54;482 1003 11223 30131 35730) NA 14 82 9.31168e-06 1.11092e-05 0.001855 1 0 CD1D 912 broad.mit.edu 37 1 158151905 158151905 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:158151905G>T uc001frr.2 + 4 911 c.412G>T c.(412-414)GGA>TGA p.G138* CD1D_uc009wsr.1_Nonsense_Mutation_p.G138*|CD1D_uc009wss.2_Nonsense_Mutation_p.G138*|CD1D_uc009wst.1_Nonsense_Mutation_p.G34* NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 138 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) AGCATTTCAAGGAAAAGATAT 0.512 NA 66 248 3.57465e-26 6.07046e-26 0.00361 1 0 SPTA1 6708 broad.mit.edu 37 1 158606521 158606521 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:158606521G>A uc001fst.1 - 37 5419 c.5220C>T c.(5218-5220)GAC>GAT p.D1740D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1740 Spectrin 17. 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) CTCTCCCATAGTCCTGGGAGC 0.478 NA 56 145 0 0 0.00361 0 0 CADM3 57863 broad.mit.edu 37 1 159163811 159163811 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:159163811T>A uc001ftl.2 + 5 814 c.672T>A c.(670-672)TCT>TCA p.S224S CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Silent_p.S258S NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 224 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) GATCCACCTCTCAACGCATTG 0.507 NA 6 81 0 0 0.00308 0 0 OR10J1 26476 broad.mit.edu 37 1 159409749 159409749 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:159409749C>A uc010piv.1 + 1 201 c.201C>A c.(199-201)CAC>CAA p.H67Q uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 67 Helical; Name=2; (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) TTCATCTTCACACACCCATGT 0.453 NA 44 121 7.53189e-24 1.25643e-23 0.007835 1 0 DCAF8 50717 broad.mit.edu 37 1 160249886 160249886 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:160249886C>A uc010pjc.1 - 4 576 c.304G>T c.(304-306)GAG>TAG p.E102* PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Nonsense_Mutation_p.E249*|PEX19_uc001fvt.2_Nonsense_Mutation_p.E159* NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 Error:Variant_position_missing_in_Q5TAQ9_after_alignment CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 AGCACCATCTCAAAACGAGCC 0.493 NA 105 227 7.73176e-47 1.36209e-46 0.00361 1 0 NCSTN 23385 broad.mit.edu 37 1 160314522 160314522 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:160314522G>T uc001fvx.2 + 2 220 c.96G>T c.(94-96)AGG>AGT p.R32S COPA_uc009wti.2_5'Flank|COPA_uc001fvv.3_5'Flank|COPA_uc009wtj.1_5'Flank|NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.R12S|NCSTN_uc010pjf.1_Missense_Mutation_p.R32S NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 32 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTTTGTGCAGGGGAAACTCAG 0.438 NA 14 57 2.31682e-05 2.71255e-05 0.003163 1 0 LRRC52 440699 broad.mit.edu 37 1 165514132 165514132 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:165514132T>A uc001gde.2 + 1 655 c.599T>A c.(598-600)ATA>AAA p.I200K LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 200 Extracellular (Potential).|LRRCT. integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) ATCTTCTTAATAGTGTTCCAT 0.498 NA 37 157 0 0 0.007835 0 0 FMO1 2326 broad.mit.edu 37 1 171252285 171252285 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:171252285G>T uc009wvz.2 + 8 1322 c.1186G>T c.(1186-1188)GTA>TTA p.V396L FMO1_uc010pme.1_Missense_Mutation_p.V333L|FMO1_uc001ghl.2_Missense_Mutation_p.V396L|FMO1_uc001ghm.2_Missense_Mutation_p.V396L|FMO1_uc001ghn.2_Intron NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 396 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCCTACAGGTGTAAATAAGTT 0.358 NA 32 77 1.61788e-16 2.51004e-16 0.002445 1 0 PAPPA2 60676 broad.mit.edu 37 1 176526271 176526271 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:176526271G>T uc001gkz.2 + 2 1977 c.813G>T c.(811-813)CGG>CGT p.R271R PAPPA2_uc001gky.1_Silent_p.R271R|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 271 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 GGCGGGAGCGGCTGCTGCTGC 0.567 NA 16 44 4.7546e-09 6.34508e-09 0.004007 1 0 PAPPA2 60676 broad.mit.edu 37 1 176679280 176679280 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:176679280G>T uc001gkz.2 + 11 4783 c.3619G>T c.(3619-3621)GTT>TTT p.V1207F PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1207 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 GAAGTGTCCTGTTTCCTTGGT 0.463 NA 42 81 1.8453e-21 3.05121e-21 0.002522 1 0 ASTN1 460 broad.mit.edu 37 1 176915112 176915112 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:176915112G>C uc001glc.2 - 13 2411 c.2199C>G c.(2197-2199)AAC>AAG p.N733K ASTN1_uc001glb.1_Missense_Mutation_p.N733K|ASTN1_uc001gld.1_Missense_Mutation_p.N733K|ASTN1_uc009wwx.1_Missense_Mutation_p.N733K NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 741 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TGGAATGGTTGTTGTAACCAA 0.483 NA 51 164 0 0 0.00361 0 0 FAM5B 57795 broad.mit.edu 37 1 177250467 177250467 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:177250467C>G uc001glf.2 + 8 2467 c.2155C>G c.(2155-2157)CAG>GAG p.Q719E FAM5B_uc001glg.2_Missense_Mutation_p.Q614E NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 719 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TGCACTCTTGCAGCTCATTGA 0.542 NA 23 162 0 0 0.003954 0 0 CACNA1E 777 broad.mit.edu 37 1 181741334 181741334 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:181741334C>A uc001gow.2 + 37 5271 c.5106C>A c.(5104-5106)TAC>TAA p.Y1702* CACNA1E_uc009wxs.2_Nonsense_Mutation_p.Y1590*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.Y928*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.Y928* NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1702 IV.|Helical; Name=S6 of repeat IV. 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 CCTACGTGTACTTTGTCTCCT 0.547 NA 36 134 4.62619e-21 7.63271e-21 0.004289 1 0 LAMC1 3915 broad.mit.edu 37 1 183093904 183093904 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:183093904G>C uc001gpy.3 + 14 2797 c.2540G>C c.(2539-2541)GGA>GCA p.G847A NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 847 Laminin EGF-like 8. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCTTGACGGGAGAATGCCTG 0.517 NA 15 47 0 0 0.003163 0 0 TPR 7175 broad.mit.edu 37 1 186287604 186287604 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:186287604C>T uc001grv.2 - 48 7093 c.6796G>A c.(6796-6798)GTA>ATA p.V2266I NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 2266 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TCCACAAATACTTCATCTCCA 0.388 NA T NTRK1 papillary thyroid 6 211 0 0 0.001168 0 0 PTGS2 5743 broad.mit.edu 37 1 186645624 186645624 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:186645624G>T uc001gsb.2 - 7 1082 c.945C>A c.(943-945)TTC>TTA p.F315L PTGS2_uc009wyo.2_Missense_Mutation_p.F162L NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 315 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TGCTTGTCTGGAACAACTGCT 0.423 NA 38 160 1.58521e-26 2.69807e-26 0.005524 1 0 PTGS2 5743 broad.mit.edu 37 1 186645994 186645994 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:186645994G>T uc001gsb.2 - 6 831 c.694C>A c.(694-696)CTT>ATT p.L232I PTGS2_uc009wyo.2_Missense_Mutation_p.L79I NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 232 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TCCTTGAAAAGGCGCAGTTTA 0.318 NA 59 202 4.45325e-31 7.68365e-31 0.00361 1 0 RGS1 5996 broad.mit.edu 37 1 192544947 192544947 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:192544947C>G uc001gsi.1 + 1 91 c.25C>G c.(25-27)CCA>GCA p.P9A RGS1_uc010pou.1_Missense_Mutation_p.P9A NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 9 immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) CATCTCCACTCCAAAGTTAGA 0.443 NA 11 84 0 0 0.008291 0 0 CACNA1S 779 broad.mit.edu 37 1 201009108 201009108 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:201009108C>G uc001gvv.2 - 44 5700 c.5473G>C c.(5473-5475)GTG>CTG p.V1825L NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1825 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATGATCTCCACTTCCTCTGGT 0.612 NA 38 140 0 0 0.006999 0 0 TMCC2 9911 broad.mit.edu 37 1 205210770 205210770 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:205210770C>A uc001hbz.1 + 3 789 c.345C>A c.(343-345)TCC>TCA p.S115S TMCC2_uc010prf.1_Silent_p.S37S NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 115 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) AGGGTATGTCCGACCATGACT 0.637 NA 14 35 0.000151284 0.000172049 0.001855 1 0 INTS7 25896 broad.mit.edu 37 1 212193585 212193585 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:212193585G>C uc001hiw.1 - 3 355 c.250C>G c.(250-252)CTT>GTT p.L84V INTS7_uc009xdb.1_Missense_Mutation_p.L84V|INTS7_uc001hix.1_5'UTR|INTS7_uc001hiy.1_Missense_Mutation_p.L84V|INTS7_uc010pta.1_Intron NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 84 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GTAACTTTAAGAACACATAGC 0.294 NA 5 26 0 0 0.001168 0 0 USH2A 7399 broad.mit.edu 37 1 215848172 215848172 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:215848172G>T uc001hku.1 - 63 13468 c.13081C>A c.(13081-13083)CCT>ACT p.P4361T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4361 Extracellular (Potential).|Fibronectin type-III 29. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGATCTGGAGGGCTGACTTCT 0.488 NA HNSCC(13;0.011) 18 50 8.28177e-16 1.26662e-15 0.007413 1 0 USH2A 7399 broad.mit.edu 37 1 216465522 216465522 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:216465522G>A uc001hku.1 - 10 2222 c.1835C>T c.(1834-1836)ACT>ATT p.T612I USH2A_uc001hkv.2_Missense_Mutation_p.T612I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 612 Laminin EGF-like 2.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTTACCTGTAGTGTTATGCTC 0.383 NA HNSCC(13;0.011) 33 121 0 0 0.002445 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232577060 232577060 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:232577060C>A uc001hvg.2 - 12 3777 c.3619G>T c.(3619-3621)GAT>TAT p.D1207Y SIPA1L2_uc001hvf.2_Missense_Mutation_p.D281Y NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1207 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTGGGGGAATCTTTGCAACTT 0.468 NA 106 413 8.74965e-44 1.53782e-43 0.00361 1 0 LYST 1130 broad.mit.edu 37 1 235883977 235883977 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:235883977C>G uc001hxj.2 - 40 9719 c.9544G>C c.(9544-9546)GAT>CAT p.D3182H LYST_uc001hxi.2_Missense_Mutation_p.D406H NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3182 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATCAACAGATCATTGAGGTCA 0.338 NA Chediak-Higashsyndrome 12 124 0 0 0.001368 0 0 NID1 4811 broad.mit.edu 37 1 236187502 236187502 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:236187502C>A uc001hxo.2 - 9 2098 c.1996G>T c.(1996-1998)GAT>TAT p.D666Y NID1_uc009xgd.2_Missense_Mutation_p.D666Y NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 666 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TGAAGAGCATCAGGGGAGCCT 0.547 NA 8 52 0.000274275 0.000303231 0.004482 1 0 RYR2 6262 broad.mit.edu 37 1 237494244 237494244 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:237494244C>A uc001hyl.1 + 3 355 c.235C>A c.(235-237)CAG>AAG p.Q79K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 79 Cytoplasmic (By similarity). 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) CCGGGCGCTGCAGGAGATGCT 0.502 NA 19 65 0.000229342 0.000258095 0.001882 1 0 RYR2 6262 broad.mit.edu 37 1 237880535 237880535 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:237880535G>A uc001hyl.1 + 72 10481 c.10361G>A c.(10360-10362)CGC>CAC p.R3454H RYR2_uc010pxz.1_Missense_Mutation_p.R409H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3454 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) AAAATGAAGCGCAAAGGAGAT 0.488 NA 12 20 0 0 0.000978 0 0 ZP4 57829 broad.mit.edu 37 1 238051727 238051727 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:238051727C>A uc001hym.2 - 4 484 c.484G>T c.(484-486)GGA>TGA p.G162* LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 162 P-type.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACAGTCTCCTCGAGAGATG 0.507 NSCLC(166;160 2029 11600 18754 19936) NA 24 73 5.35356e-11 7.54501e-11 0.00278 1 0 GREM2 64388 broad.mit.edu 37 1 240656527 240656527 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:240656527G>T uc001hys.2 - 2 529 c.249C>A c.(247-249)AGC>AGA p.S83R NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 83 CTCK. BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) AGCCCTCCTCGCTCACCGTCT 0.647 NA 9 102 3.86212e-05 4.48006e-05 0.008291 1 0 EXO1 9156 broad.mit.edu 37 1 242035504 242035504 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:242035504A>T uc001hzh.2 + 12 1978 c.1438A>T c.(1438-1440)AGA>TGA p.R480* EXO1_uc001hzi.2_Nonsense_Mutation_p.R480*|EXO1_uc001hzj.2_Nonsense_Mutation_p.R480*|EXO1_uc009xgq.2_Nonsense_Mutation_p.R479* NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 480 Interaction with MLH1. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ACCTAGGACGAGAAATAAATT 0.398 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 28 119 0 0 0.004656 0 0 CEP170 9859 broad.mit.edu 37 1 243327772 243327772 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:243327772G>A uc001hzs.2 - 13 3898 c.3490C>T c.(3490-3492)CGT>TGT p.R1164C CEP170_uc001hzt.2_Missense_Mutation_p.R1066C|CEP170_uc001hzu.2_Missense_Mutation_p.R1066C|CEP170_uc001hzv.1_Missense_Mutation_p.R542C NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 1164 Targeting to microtubules.|Targeting to centrosomes. centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GAGTCACTACGAGCTGACAGT 0.458 NA 6 39 0 0 0.001368 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243652359 243652359 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:243652359C>G uc001hzw.2 + 17 2185 c.2029C>G c.(2029-2031)CTG>GTG p.L677V SDCCAG8_uc010pyk.1_Missense_Mutation_p.L532V|SDCCAG8_uc010pyl.1_Missense_Mutation_p.L489V|SDCCAG8_uc001hzx.2_Missense_Mutation_p.L410V|AKT3_uc001hzz.1_Intron NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 677 Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AGCCCAGCAGCTGGTGCAGCT 0.587 NA 4 41 0 0 0.001168 0 0 ADSS 159 broad.mit.edu 37 1 244574692 244574692 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:244574692G>A uc001iaj.2 - 12 1509 c.1215C>T c.(1213-1215)CTC>CTT p.L405L NM_001126 NP_001117 P30520 PURA2_HUMAN adenylosuccinate synthase 405 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(2)|kidney(1) 3 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) TCCATCCTGGGAGAGTCTTAT 0.343 NA 18 167 0 0 0.006122 0 0 ZNF496 84838 broad.mit.edu 37 1 247463969 247463969 + Missense_Mutation SNP C C A rs144745098 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:247463969C>A uc001ico.2 - 9 2081 c.1616G>T c.(1615-1617)CGG>CTG p.R539L ZNF496_uc009xgv.2_Missense_Mutation_p.R575L|ZNF496_uc001icp.2_Missense_Mutation_p.R539L NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 539 C2H2-type 4. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GCTGCGGTGCCGAGCCAGGTG 0.612 NA 13 119 4.36969e-10 5.95795e-10 0.001855 1 0 NLRP3 114548 broad.mit.edu 37 1 247582226 247582226 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:247582226G>T uc001icr.2 + 3 268 c.130G>T c.(130-132)GGT>TGT p.G44C NLRP3_uc001ics.2_Missense_Mutation_p.G44C|NLRP3_uc001icu.2_Missense_Mutation_p.G44C|NLRP3_uc001icw.2_Missense_Mutation_p.G44C|NLRP3_uc001icv.2_Missense_Mutation_p.G44C|NLRP3_uc010pyw.1_Missense_Mutation_p.G42C|NLRP3_uc001ict.1_Missense_Mutation_p.G42C NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 44 DAPIN. 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) CCTCCCGAGGGGTCAGACAGA 0.567 NA 8 47 0.000157383 0.000177645 0.00308 1 0 TRIM58 25893 broad.mit.edu 37 1 248039487 248039487 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:248039487T>A uc001ido.2 + 6 1205 c.1157T>A c.(1156-1158)CTG>CAG p.L386Q OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 386 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 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) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCCTGTGGCTGCTGAAAGGG 0.547 NA 68 113 0 0 0.00361 0 0 OR2M5 127059 broad.mit.edu 37 1 248308625 248308625 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:248308625T>C uc010pze.1 + 1 176 c.176T>C c.(175-177)ATG>ACG p.M59T NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACACCCCCATGTACTTCCTC 0.512 NA 55 545 0 0 0.00361 0 0 OR2T4 127074 broad.mit.edu 37 1 248525180 248525180 + Missense_Mutation SNP C C T rs142091573 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:248525180C>T uc001ieh.1 + 1 298 c.298C>T c.(298-300)CTC>TTC p.L100F NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 100 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAATTGTCTCTCATGGACAT 0.502 NA 23 323 0 0 0.001882 0 0 SFMBT2 57713 broad.mit.edu 37 10 7262394 7262394 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:7262394G>T uc009xio.1 - 11 1400 c.1309C>A c.(1309-1311)CTA>ATA p.L437I SFMBT2_uc001ijn.1_Missense_Mutation_p.L437I|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 437 MBT 4. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 AGCCACATTAGCCGCCCCTTC 0.532 NA 41 228 1.59932e-28 2.73444e-28 0.007835 1 0 TAF3 83860 broad.mit.edu 37 10 8007650 8007650 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:8007650A>G uc010qbd.1 + 3 2177 c.2177A>G c.(2176-2178)GAG>GGG p.E726G NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 726 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 agagagaaagagaagagagag 0.119 NA 9 36 0 0 0.004482 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256244 15256244 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:15256244G>T uc001iob.2 - 8 1350 c.1343C>A c.(1342-1344)ACT>AAT p.T448N NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 448 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CCCACTTGGAGTGAGGTTATC 0.502 NA 9 63 0.00448238 0.00474679 0.004482 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24878202 24878202 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:24878202T>C uc001isb.2 - 25 4667 c.4180A>G c.(4180-4182)AAG>GAG p.K1394E ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1393 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 CAATTTACCTTAGATTTTGTT 0.318 NA 18 49 0 0 0.010504 0 0 GPR158 57512 broad.mit.edu 37 10 25887785 25887785 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:25887785A>C uc001isj.2 + 11 3290 c.3230A>C c.(3229-3231)CAA>CCA p.Q1077P GPR158_uc001isk.2_Missense_Mutation_p.Q452P NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1077 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TGGGAGAGCCAAGGCCAGTCC 0.493 NA 24 109 0 0 0.004656 0 0 GPR158 57512 broad.mit.edu 37 10 25887787 25887787 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:25887787G>C uc001isj.2 + 11 3292 c.3232G>C c.(3232-3234)GGC>CGC p.G1078R GPR158_uc001isk.2_Missense_Mutation_p.G453R NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1078 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GGAGAGCCAAGGCCAGTCCAT 0.493 NA 24 109 0 0 0.005443 0 0 GAD2 2572 broad.mit.edu 37 10 26558096 26558096 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:26558096A>G uc001isp.2 + 9 1472 c.969A>G c.(967-969)AAA>AAG p.K323K GAD2_uc001isq.2_Silent_p.K323K NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 323 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TTGAAGCCAAACAGAAAGTAA 0.358 NA 15 68 0 0 0.00499 0 0 ACBD5 91452 broad.mit.edu 37 10 27497332 27497332 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:27497332T>A uc010qdp.1 - 10 1438 c.1247A>T c.(1246-1248)CAG>CTG p.Q416L ACBD5_uc010qdm.1_Missense_Mutation_p.Q414L|ACBD5_uc010qdn.1_Missense_Mutation_p.Q307L|ACBD5_uc010qdo.1_Missense_Mutation_p.Q239L|ACBD5_uc001ito.2_Missense_Mutation_p.Q381L|ACBD5_uc001itp.2_Missense_Mutation_p.Q307L|ACBD5_uc001itq.2_Missense_Mutation_p.Q307L|ACBD5_uc001itr.1_Missense_Mutation_p.Q205L NM_145698 NP_663736 Q5T8D3 ACBD5_HUMAN acyl-Coenzyme A binding domain containing 5 425 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding 0 ACTTCCCACCTGCCGGCCCTT 0.507 NA 29 56 0 0 0.009535 0 0 WAC 51322 broad.mit.edu 37 10 28884908 28884908 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:28884908C>G uc001iuf.2 + 7 942 c.857C>G c.(856-858)TCT>TGT p.S286C WAC_uc001iud.2_Missense_Mutation_p.S241C|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.S241C|WAC_uc001iug.2_Intron|WAC_uc001iuh.2_Missense_Mutation_p.S241C NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 286 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 AATGGAGCATCTACTTTATCA 0.423 NA 29 85 0 0 0.00632 0 0 ZEB1 6935 broad.mit.edu 37 10 31815707 31815707 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:31815707A>T uc001ivs.3 + 9 2953 c.2890A>T c.(2890-2892)AAA>TAA p.K964* ZEB1_uc001ivr.3_Nonsense_Mutation_p.K746*|ZEB1_uc010qee.1_Nonsense_Mutation_p.K746*|ZEB1_uc010qef.1_Nonsense_Mutation_p.K746*|ZEB1_uc001ivt.3_Nonsense_Mutation_p.K746*|ZEB1_uc001ivu.3_Nonsense_Mutation_p.K965*|ZEB1_uc001ivv.3_Nonsense_Mutation_p.K944*|ZEB1_uc010qeh.1_Nonsense_Mutation_p.K897*|ZEB1_uc009xlp.2_Nonsense_Mutation_p.K948* NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 964 C2H2-type 7; atypical. cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) TCAATGTGACAAATGTGGAAA 0.413 Ovarian(40;423 959 14296 36701 49589) NA 12 54 0 0 0.000978 0 0 EPC1 80314 broad.mit.edu 37 10 32594782 32594782 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:32594782T>A uc001iwg.1 - 2 501 c.231A>T c.(229-231)CCA>CCT p.P77P EPC1_uc001iwi.3_Silent_p.P27P|EPC1_uc009xlt.2_Silent_p.P27P|EPC1_uc001iwh.1_Silent_p.P77P NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 77 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) TTTCTGCCTCTGGGACCGGTA 0.403 NA 17 43 0 0 0.00499 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344699 38344699 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:38344699G>A uc001izh.2 + 5 1822 c.1644G>A c.(1642-1644)GGG>GGA p.G548G ZNF33A_uc001izg.2_Silent_p.G549G|ZNF33A_uc010qev.1_Silent_p.G555G|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 548 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CACACACAGGGCAGAAACCCT 0.428 NA 10 127 0 0 0.000978 0 0 BMS1 9790 broad.mit.edu 37 10 43326451 43326451 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:43326451G>C uc001jaj.2 + 23 4114 c.3756G>C c.(3754-3756)AAG>AAC p.K1252N NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1252 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 AGCGGCAGAAGGACCTCAGGA 0.527 NA 4 16 0 0 0.001168 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43678731 43678731 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:43678731G>C uc001jan.2 + 8 1705 c.1370G>C c.(1369-1371)GGA>GCA p.G457A NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 457 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 GGTTGGGGTGGAGAAGATGTT 0.408 NA 24 164 0 0 0.004656 0 0 DRGX 644168 broad.mit.edu 37 10 50594820 50594820 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:50594820C>A uc010qgq.1 - 4 334 c.334G>T c.(334-336)GCA>TCA p.A112S NM_001080520 NP_001073989 A6NNA5 DRGX_HUMAN dorsal root ganglia homeobox 112 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTCACCTCTGCCATGGGCTCC 0.607 NA 32 93 1.45844e-13 2.16469e-13 0.002836 1 0 PRKG1 5592 broad.mit.edu 37 10 54041979 54041979 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:54041979G>T uc001jjm.2 + 14 1761 c.1567G>T c.(1567-1569)GAG>TAG p.E523* PRKG1_uc001jjo.2_Nonsense_Mutation_p.E538*|PRKG1_uc009xow.1_Nonsense_Mutation_p.E241*|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 523 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TGGGACTCCAGAGTATGTAGC 0.418 NA 30 44 3.1745e-13 4.66583e-13 0.008361 1 0 RUFY2 55680 broad.mit.edu 37 10 70123383 70123383 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:70123383T>C uc001job.2 - 15 1946 c.1619A>G c.(1618-1620)GAG>GGG p.E540G RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_Missense_Mutation_p.E95G NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 554 Potential. nucleus metal ion binding ovary(1) 1 AAGAGCTTGCTCTTGTTCATG 0.328 NA 5 14 0 0 0.001168 0 0 PTEN 5728 broad.mit.edu 37 10 89653807 89653807 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:89653807G>T uc001kfb.2 + 3 1136 c.105G>T c.(103-105)ATG>ATT p.M35I NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 35 Phosphatase tensin-type. M -> R (in CD). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(4)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.A34_G36del(1)|p.M35R(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTATTGCTATGGGATTTCCTG 0.284 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 18 51 2.48551e-13 3.66029e-13 0.00499 1 0 MYOF 26509 broad.mit.edu 37 10 95168668 95168668 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:95168668C>T uc001kin.2 - 7 728 c.605G>A c.(604-606)CGC>CAC p.R202H MYOF_uc001kio.2_Missense_Mutation_p.R202H|MYOF_uc001kip.3_Missense_Mutation_p.R202H|MYOF_uc009xuf.2_Missense_Mutation_p.R184H NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 202 C2 2.|Cytoplasmic (Potential).|Necessary for interaction with EHD2. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 CACTCGGACGCGGATCTGCAG 0.507 NA 10 79 0 0 0.000978 0 0 POLL 27343 broad.mit.edu 37 10 103345895 103345895 + Missense_Mutation SNP C C A rs141683033 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:103345895C>A uc001ktg.1 - 2 900 c.134G>T c.(133-135)CGG>CTG p.R45L DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.R45L|POLL_uc001ktj.1_Missense_Mutation_p.R45L|POLL_uc001ktf.2_Missense_Mutation_p.R45L|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Missense_Mutation_p.R45L|POLL_uc001ktl.2_5'UTR|POLL_uc010qqc.1_5'UTR|POLL_uc010qqd.1_5'UTR|DPCD_uc001ktn.2_5'Flank NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 45 BRCT. DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AACATGGGCCCGAAGGGAGCT 0.537 NA DNA_polymerases_(catalytic_subunits) 7 43 0.000673444 0.000735908 0.008291 1 0 PPRC1 23082 broad.mit.edu 37 10 103906433 103906433 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:103906433C>T uc001kum.2 + 9 3723 c.3684C>T c.(3682-3684)CTC>CTT p.L1228L PPRC1_uc001kun.2_Silent_p.L1108L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCACAGGGCTCACCCCTCCAG 0.577 NA 36 93 0 0 0.007835 0 0 PDCD11 22984 broad.mit.edu 37 10 105158243 105158243 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:105158243G>C uc001kwy.1 + 2 147 c.60G>C c.(58-60)GAG>GAC p.E20D USMG5_uc001kww.1_5'Flank|USMG5_uc001kwx.1_5'Flank NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 20 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ACAAACCAGAGAAAGCTTTCC 0.418 NA 8 37 0 0 0.00308 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105365611 105365611 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:105365611C>A uc001kxj.1 - 13 1428 c.1288G>T c.(1288-1290)GAA>TAA p.E430* SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Nonsense_Mutation_p.E265*|SH3PXD2A_uc010qqt.1_Nonsense_Mutation_p.E307*|SH3PXD2A_uc009xxn.1_Nonsense_Mutation_p.E265*|SH3PXD2A_uc010qqu.1_Nonsense_Mutation_p.E373* NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 458 SH3 3. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GACTGGAATTCGGCAATGGTG 0.542 NA OREG0020500 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 44 1.01871e-10 1.42771e-10 0.008871 1 0 SORCS1 114815 broad.mit.edu 37 10 108366923 108366923 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:108366923C>A uc001kym.2 - 23 3173 c.3165_splice c.e23+1 p.Q1055_splice SORCS1_uc001kyl.2_Splice_Site_p.Q1055_splice|SORCS1_uc009xxs.2_Splice_Site_p.Q1055_splice|SORCS1_uc001kyn.1_Splice_Site_p.Q1055_splice|SORCS1_uc001kyo.2_Splice_Site_p.Q1055_splice NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 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) AGGGGACTCACCTGCTCCAGG 0.498 NA 7 50 8.12818e-05 9.28583e-05 0.001984 1 0 ADRA2A 150 broad.mit.edu 37 10 112838897 112838897 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:112838897G>A uc001kzo.2 + 1 2108 c.1143G>A c.(1141-1143)CAG>CAA p.Q381Q NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 366 Cytoplasmic (By similarity). actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding 0 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) GCGGGCGGCAGAACCGCGAGA 0.632 Esophageal Squamous(173;605 2658 7278 49362) NA 27 138 0 0 0.005443 0 0 ACSL5 51703 broad.mit.edu 37 10 114164554 114164554 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:114164554A>G uc001kzs.2 + 5 563 c.422A>G c.(421-423)AAT>AGT p.N141S ACSL5_uc001kzt.2_Missense_Mutation_p.N141S|ACSL5_uc001kzu.2_Missense_Mutation_p.N197S|ACSL5_uc009xxz.2_Missense_Mutation_p.N141S NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 141 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TTTGCTCAGAATAGGCCAGAG 0.408 NA 28 136 0 0 0.005443 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114203279 114203279 + Missense_Mutation SNP C C T rs141897265 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:114203279C>T uc001kzv.2 - 3 777 c.353G>A c.(352-354)TGT>TAT p.C118Y ZDHHC6_uc001kzw.2_Missense_Mutation_p.C114Y|ZDHHC6_uc009xya.1_Missense_Mutation_p.C118Y NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 118 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) GTACCTGTTACACTTTCTGCA 0.403 NA 10 130 0 0 0.008291 0 0 NRAP 4892 broad.mit.edu 37 10 115409891 115409891 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:115409891G>T uc001laj.2 - 9 957 c.793C>A c.(793-795)CAT>AAT p.H265N NRAP_uc001lak.2_Missense_Mutation_p.H265N|NRAP_uc001lal.3_Missense_Mutation_p.H265N NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 265 Nebulin 5. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TATTGTTGATGGTACCTCACC 0.443 NA 35 200 1.30015e-28 2.23306e-28 0.004878 1 0 PNLIP 5406 broad.mit.edu 37 10 118315520 118315520 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:118315520G>C uc001lcm.2 + 9 863 c.820G>C c.(820-822)GAC>CAC p.D274H NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 274 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AGGGACTCGAGACTTTGCGGC 0.393 NA 19 125 0 0 0.008871 0 0 DMBT1 1755 broad.mit.edu 37 10 124402858 124402858 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:124402858G>A uc001lgk.1 + 53 7292 c.7186G>A c.(7186-7188)GTC>ATC p.V2396I DMBT1_uc001lgl.1_Missense_Mutation_p.V2386I|DMBT1_uc001lgm.1_Missense_Mutation_p.V1768I|DMBT1_uc009xzz.1_Missense_Mutation_p.V2395I|DMBT1_uc010qtx.1_Missense_Mutation_p.V1116I|DMBT1_uc009yab.1_Missense_Mutation_p.V1099I|DMBT1_uc009yac.1_Missense_Mutation_p.V690I NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2396 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGTGGACGTCGTCCTGGGTCC 0.647 Ovarian(182;93 2026 18125 22222 38972) NA 18 32 0 0 0.00499 0 0 CD151 977 broad.mit.edu 37 11 838021 838021 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:838021G>T uc001lry.2 + 8 839 c.695G>T c.(694-696)TGT>TTT p.C232F CD151_uc001lrx.2_RNA|CD151_uc001lrz.2_Missense_Mutation_p.C232F|CD151_uc001lsa.2_Missense_Mutation_p.C232F|CD151_uc001lsb.2_Missense_Mutation_p.C232F NM_004357 NP_004348 P48509 CD151_HUMAN CD151 antigen 232 Helical; (Potential). cell adhesion|hemidesmosome assembly cytosol|integral to plasma membrane|membrane fraction protein binding 0 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCATTGCCTGTGTGCAGGTG 0.667 Esophageal Squamous(14;501 559 15826 37823 38305) NA 7 19 8.12818e-05 9.28583e-05 0.001984 1 0 MUC2 4583 broad.mit.edu 37 11 1090835 1090835 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:1090835G>T uc001lsx.1 + 28 3757 c.3730G>T c.(3730-3732)GGC>TGC p.G1244C NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 1244 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGAGATCTGTGGCCCCAACGG 0.463 NA 12 28 7.03913e-09 9.36067e-09 0.001368 1 0 MUC5B 727897 broad.mit.edu 37 11 1267460 1267460 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:1267460G>A uc009ycr.1 + 49 11225 c.11099G>A c.(11098-11100)AGG>AAG p.R3700K MUC5B_uc001ltb.2_Missense_Mutation_p.R3120K NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3117 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCACGACAAGGGCCACCAGT 0.637 NA 21 84 0 0 0.010504 0 0 LSP1 4046 broad.mit.edu 37 11 1908785 1908785 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:1908785G>T uc001lui.2 + 10 1187 c.1012G>T c.(1012-1014)GCT>TCT p.A338S LSP1_uc001luj.2_Missense_Mutation_p.A466S|LSP1_uc001luk.2_Missense_Mutation_p.A276S|LSP1_uc001lul.2_Missense_Mutation_p.A276S|LSP1_uc001lum.2_Missense_Mutation_p.A276S NM_002339 NP_002330 P33241 LSP1_HUMAN lymphocyte-specific protein 1 isoform 1 338 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity large_intestine(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) AGGGGGCCCGGCTCCCTAGGC 0.592 NA 6 28 5.9392e-07 7.40191e-07 0.001168 1 0 IGF2 3481 broad.mit.edu 37 11 2154386 2154386 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:2154386C>A uc009yde.2 - 4 477 c.374G>T c.(373-375)CGC>CTC p.R125L IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.R125L|IGF2_uc009ydf.2_Missense_Mutation_p.R181L|IGF2_uc001lvh.2_Missense_Mutation_p.R125L|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 P01344 IGF2_HUMAN insulin-like growth factor 2 isoform 1 125 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1) 1 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCTGCGCAGGCGCTGGGTGGA 0.667 NA 6 16 0.00116845 0.00125679 0.001168 1 0 OR51V1 283111 broad.mit.edu 37 11 5221326 5221326 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:5221326C>A uc010qyz.1 - 1 605 c.605G>T c.(604-606)CGA>CTA p.R202L NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 202 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTATTGAATCGGATGTCTGA 0.408 NA 17 42 0.000958276 0.00104564 0.007413 1 0 OR52N2 390077 broad.mit.edu 37 11 5841791 5841791 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:5841791T>A uc010qzp.1 + 1 226 c.226T>A c.(226-228)TGC>AGC p.C76S TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCACCTTGTGCACCACCAT 0.527 NA 35 112 0 0 0.004878 0 0 DNHD1 144132 broad.mit.edu 37 11 6524146 6524146 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:6524146C>T uc001mdw.3 + 4 1474 c.910C>T c.(910-912)CGG>TGG p.R304W DNHD1_uc001mdp.2_Missense_Mutation_p.R304W NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 304 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCTCCCAGCCGGTACTTTAG 0.323 NA 17 32 0 0 0.006122 0 0 SOX6 55553 broad.mit.edu 37 11 16208425 16208425 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:16208425C>A uc001mme.2 - 5 684 c.651G>T c.(649-651)CAG>CAT p.Q217H SOX6_uc001mmd.2_Missense_Mutation_p.Q207H|SOX6_uc001mmf.2_Missense_Mutation_p.Q204H|SOX6_uc001mmg.2_Missense_Mutation_p.Q204H NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 204 Potential. muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 CTGCCAGTAGCTGCTCCCGTA 0.493 NA 63 124 2.20561e-19 3.55349e-19 0.00361 1 0 SLC6A5 9152 broad.mit.edu 37 11 20622838 20622838 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:20622838C>T uc001mqd.2 + 2 440 c.167C>T c.(166-168)TCC>TTC p.S56F SLC6A5_uc009yic.2_5'UTR NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 56 Cytoplasmic (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) AGGTCCGCTTCCACCGGCGCC 0.736 NA 4 10 0 0 0.000602 0 0 NELL1 4745 broad.mit.edu 37 11 20907087 20907087 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:20907087G>T uc001mqe.2 + 5 756 c.603_splice c.e5+1 p.K201_splice NELL1_uc001mqf.2_Splice_Site_p.K201_splice|NELL1_uc009yid.2_Splice_Site_p.K229_splice|NELL1_uc010rdo.1_Splice_Site_p.K144_splice|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CTTATTCAAAGTAAGCACTAA 0.403 NA 9 29 0.000274275 0.000303231 0.004482 1 0 MPPED2 744 broad.mit.edu 37 11 30557678 30557678 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:30557678G>A uc001msr.2 - 2 293 c.173C>T c.(172-174)ACG>ATG p.T58M MPPED2_uc001msq.3_Missense_Mutation_p.T58M|MPPED2_uc009yji.2_Translation_Start_Site NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 58 nervous system development hydrolase activity|metal ion binding skin(1) 1 GACAAACCGCGTGTGGCCCGC 0.483 NA 4 37 0 0 0.009096 0 0 ABTB2 25841 broad.mit.edu 37 11 34173997 34173997 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:34173997C>T uc001mvl.1 - 17 2687 c.2457G>A c.(2455-2457)CTG>CTA p.L819L NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 819 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCAGGTCCTGCAGTGGATCCA 0.647 NA 4 4 0 0 0.000602 0 0 SYT13 57586 broad.mit.edu 37 11 45268061 45268061 + Silent SNP C C T rs144015985 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:45268061C>T uc001myq.2 - 5 975 c.849G>A c.(847-849)GAG>GAA p.E283E SYT13_uc009yku.1_Silent_p.E139E NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 283 Cytoplasmic (Potential). transport vesicle ovary(1) 1 CTGCAGATGGCTCCTGAAACA 0.547 NA 4 19 0 0 0.009096 0 0 LRP4 4038 broad.mit.edu 37 11 46918425 46918425 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:46918425T>C uc001ndn.3 - 8 1063 c.917A>G c.(916-918)AAT>AGT p.N306S NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 306 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) ACCACCTGTATTCTCACAGTT 0.567 NA 10 98 0 0 0.001368 0 0 OR4A5 81318 broad.mit.edu 37 11 51411594 51411594 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:51411594T>C uc001nhi.1 - 1 802 c.802A>G c.(802-804)ATG>GTG p.M268V NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 268 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) AACACAGTCATGAACTTATCA 0.368 NA 11 76 0 0 0.000978 0 0 OR4C15 81309 broad.mit.edu 37 11 55322549 55322549 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:55322549G>T uc010rig.1 + 1 767 c.767G>T c.(766-768)AGT>ATT p.S256I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTCATCAACAGTGGGTTTATC 0.473 NA HNSCC(20;0.049) 8 60 1.06961e-07 1.37861e-07 0.00308 1 0 OR5D13 390142 broad.mit.edu 37 11 55541528 55541528 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:55541528C>A uc010ril.1 + 1 615 c.615C>A c.(613-615)GCC>GCA p.A205A NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TTATTATTGCCATATTCAATG 0.383 NA 25 154 0.000586117 0.000643278 0.003954 1 0 OR5M10 390167 broad.mit.edu 37 11 56344535 56344535 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:56344535A>C uc001niz.1 - 1 663 c.663T>G c.(661-663)ATT>ATG p.I221M NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCGCTGCAAAAATGAAAAGAT 0.453 NA 8 85 0 0 0.006214 0 0 OR9G9 504191 broad.mit.edu 37 11 56468325 56468325 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:56468325C>A uc010rjn.1 + 1 462 c.462C>A c.(460-462)AAC>AAA p.N154K NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTTTATTAACTCTTCAATCA 0.458 NA 12 199 0.000978159 0.00105815 0.000978 1 0 APLNR 187 broad.mit.edu 37 11 57003659 57003659 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:57003659C>T uc001njo.2 - 1 1269 c.820G>A c.(820-822)GGC>AGC p.G274S APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 274 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 AGCAGGCTGCCCAGCATGTAC 0.597 NA 16 30 0 0 0.003163 0 0 OR5B17 219965 broad.mit.edu 37 11 58126193 58126193 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:58126193G>T uc010rke.1 - 1 350 c.350C>A c.(349-351)GCC>GAC p.A117D NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCGGTCATAGGCCATTGAGGA 0.473 NA 10 90 7.48243e-07 9.21855e-07 0.006214 1 0 OR5B21 219968 broad.mit.edu 37 11 58275105 58275105 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:58275105T>A uc010rki.1 - 1 474 c.474A>T c.(472-474)GCA>GCT p.A158A NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGGTGCCTGCTGCATGGATAG 0.507 NA 8 67 0 0 0.00308 0 0 OR4D10 390197 broad.mit.edu 37 11 59245091 59245091 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:59245091C>A uc001nnz.1 + 1 189 c.189C>A c.(187-189)CTC>CTA p.L63L NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATTTTTTGCTCCATAATTTAT 0.443 NA 72 168 5.1178e-15 7.74864e-15 0.00361 1 0 SYT7 9066 broad.mit.edu 37 11 61295529 61295529 + Missense_Mutation SNP C C A rs17849204 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:61295529C>A uc001nrv.2 - 5 486 c.480G>T c.(478-480)CAG>CAT p.Q160H SYT7_uc009ynr.2_Missense_Mutation_p.Q235H NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 160 C2 1.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 CCGGCAGCTCCTGGGCCTTCA 0.607 NA 52 66 1.35964e-18 2.15825e-18 0.00361 1 0 INCENP 3619 broad.mit.edu 37 11 61898026 61898026 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:61898026A>T uc001nsw.1 + 4 1229 c.1027A>T c.(1027-1029)ACT>TCT p.T343S INCENP_uc009ynv.2_Missense_Mutation_p.T343S|INCENP_uc009ynw.1_Missense_Mutation_p.T343S|INCENP_uc001nsx.1_Missense_Mutation_p.T343S NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 343 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 TGCCAAGAAGACTGCCGAAGA 0.607 NA 11 72 0 0 0.008291 0 0 AHNAK 79026 broad.mit.edu 37 11 62288392 62288392 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:62288392T>C uc001ntl.2 - 5 13797 c.13497A>G c.(13495-13497)GAA>GAG p.E4499E AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4499 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGAGCTTCCCTTCAGGACCTT 0.443 NA 13 105 0 0 0.001368 0 0 AHNAK 79026 broad.mit.edu 37 11 62294707 62294707 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:62294707G>T uc001ntl.2 - 5 7482 c.7182C>A c.(7180-7182)CAC>CAA p.H2394Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2394 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGCTCTTCAAGTGTAGATCGA 0.483 NA 54 72 1.86277e-20 3.05998e-20 0.00361 1 0 UBXN1 51035 broad.mit.edu 37 11 62446030 62446030 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:62446030C>G uc001nul.1 - 3 289 c.157G>C c.(157-159)GAG>CAG p.E53Q UBXN1_uc001nuj.2_Missense_Mutation_p.E53Q|UBXN1_uc001num.1_Missense_Mutation_p.E53Q|UBXN1_uc001nuk.2_Missense_Mutation_p.E18Q|UBXN1_uc010rme.1_Missense_Mutation_p.E53Q|UBXN1_uc010rmf.1_Missense_Mutation_p.E53Q NM_015853 NP_056937 Q04323 UBXN1_HUMAN UBX domain protein 1 53 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding 0 AGGGGAGTCTCTAAAGGCTCG 0.617 NA 5 92 0 0 0.000602 0 0 PCNXL3 399909 broad.mit.edu 37 11 65387893 65387893 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:65387893G>A uc001oey.2 + 9 2092 c.2092G>A c.(2092-2094)GGA>AGA p.G698R NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 698 integral to membrane 0 GACAGCTAATGGAGCCTGGTG 0.612 NA 14 29 0 0 0.00245 0 0 NPAS4 266743 broad.mit.edu 37 11 66191660 66191660 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:66191660C>G uc001ohx.1 + 7 1475 c.1299C>G c.(1297-1299)GGC>GGG p.G433G NPAS4_uc010rpc.1_Silent_p.G223G NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 433 transcription, DNA-dependent DNA binding|signal transducer activity 0 AGCCAGGAGGCTGTGCCTTCC 0.557 NA 80 160 0 0 0.00361 0 0 DPP3 10072 broad.mit.edu 37 11 66276549 66276549 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:66276549G>T uc001oig.1 + 18 2104 c.2042_splice c.e18-1 p.G681_splice DPP3_uc001oif.1_Splice_Site_p.G681_splice|DPP3_uc010rpe.1_Splice_Site_p.G670_splice|DPP3_uc001oih.1_Splice_Site_p.A49_splice|BBS1_uc001oii.1_5'Flank|BBS1_uc010rpf.1_5'Flank|BBS1_uc010rpg.1_5'Flank|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank|BBS1_uc001oil.1_5'Flank NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 CTCCTCCCCAGGCTCAGACGT 0.488 NA 13 120 9.16793e-09 1.21701e-08 0.00499 1 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293437 71293437 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:71293437G>T uc001oqu.2 - 1 485 c.447C>A c.(445-447)CCC>CCA p.P149P NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 149 6.|6 X 4 AA repeats of C-C-X-P. keratin filament 0 GGCAGCACACGGGGACAcagc 0.259 NA 21 140 2.27731e-05 2.67043e-05 0.001882 1 0 C2CD3 26005 broad.mit.edu 37 11 73768561 73768561 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:73768561C>A uc001ouu.2 - 25 5207 c.4980G>T c.(4978-4980)TCG>TCT p.S1660S C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1660 C2 2. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) AACTGGGTATCGATACTTTCC 0.448 NA 20 138 1.64113e-05 1.93346e-05 0.010504 1 0 C11orf30 56946 broad.mit.edu 37 11 76174925 76174925 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:76174925G>T uc001oxl.2 + 7 775 c.632G>T c.(631-633)AGC>ATC p.S211I C11orf30_uc009yuj.1_Missense_Mutation_p.S226I|C11orf30_uc010rsa.1_Missense_Mutation_p.S161I|C11orf30_uc001oxm.2_Missense_Mutation_p.S212I|C11orf30_uc010rsb.1_Missense_Mutation_p.S226I|C11orf30_uc010rsc.1_Missense_Mutation_p.S226I|C11orf30_uc001oxn.2_Missense_Mutation_p.S212I|C11orf30_uc010rsd.1_Missense_Mutation_p.S225I NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 211 Interaction with BRCA2.|Poly-Ser. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 AACTCTTCCAGCTCCTCTCCT 0.448 NA 73 118 1.92865e-43 3.38186e-43 0.00361 1 0 ODZ4 26011 broad.mit.edu 37 11 78369392 78369392 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:78369392C>A uc001ozl.3 - 34 8484 c.8021G>T c.(8020-8022)TGC>TTC p.C2674F ODZ4_uc001ozk.3_Missense_Mutation_p.C899F|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2674 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 TGTGTTCAAGCACAGTGCCCC 0.602 NA 12 13 3.07112e-06 3.69318e-06 0.000978 1 0 PCF11 51585 broad.mit.edu 37 11 82877481 82877481 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:82877481G>T uc001ozx.3 + 5 1887 c.1542G>T c.(1540-1542)TCG>TCT p.S514S PCF11_uc010rsu.1_Silent_p.S514S NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 514 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 CTCCAACATCGACACCTAAAG 0.448 NA 38 117 8.16277e-20 1.32932e-19 0.006999 1 0 TYR 7299 broad.mit.edu 37 11 88911891 88911891 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:88911891C>A uc001pcs.2 + 1 852 c.770C>A c.(769-771)CCC>CAC p.P257H NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 257 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GGTCAGCACCCCACAAATCCT 0.453 NA Oculocutaneous_Albinism 32 90 9.65021e-13 1.40468e-12 0.002096 1 0 FAT3 120114 broad.mit.edu 37 11 92086401 92086401 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:92086401A>T uc001pdj.3 + 1 1140 c.1123A>T c.(1123-1125)AGA>TGA p.R375* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 375 Cadherin 3.|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) TGTCCCCATTAGATTTGAAAA 0.418 NA TCGA Ovarian(4;0.039) 12 37 0 0 0.001855 0 0 FAT3 120114 broad.mit.edu 37 11 92523266 92523266 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:92523266A>T uc001pdj.3 + 7 4510 c.4493A>T c.(4492-4494)CAT>CTT p.H1498L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1498 Cadherin 14.|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) TACACTGTTCATAGCAGCATC 0.512 NA TCGA Ovarian(4;0.039) 41 171 0 0 0.00874 0 0 FAT3 120114 broad.mit.edu 37 11 92531031 92531031 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:92531031C>A uc001pdj.3 + 9 4869 c.4852C>A c.(4852-4854)CCG>ACG p.P1618T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1618 Cadherin 15.|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) TAAGATCGAACCGGTCCTAGG 0.418 NA TCGA Ovarian(4;0.039) 21 109 2.21704e-12 3.19626e-12 0.00278 1 0 FAT3 120114 broad.mit.edu 37 11 92616355 92616355 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:92616355T>A uc001pdj.3 + 23 12750 c.12733T>A c.(12733-12735)TCC>ACC p.S4245T FAT3_uc001pdi.3_Missense_Mutation_p.S685T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4245 Cytoplasmic (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) CCAGAGTGACTCCAGGAGCAA 0.677 NA TCGA Ovarian(4;0.039) 42 179 0 0 0.002852 0 0 CNTN5 53942 broad.mit.edu 37 11 100061934 100061934 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:100061934G>T uc001pga.2 + 14 1996 c.1657G>T c.(1657-1659)GGG>TGG p.G553W CNTN5_uc009ywv.1_Missense_Mutation_p.G553W|CNTN5_uc001pfz.2_Missense_Mutation_p.G553W|CNTN5_uc001pgb.2_Missense_Mutation_p.G479W|CNTN5_uc010ruk.1_Translation_Start_Site NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 553 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CGTTTGCCGAGGGGAAAACGT 0.393 NA 14 49 2.61681e-11 3.72279e-11 0.00245 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106681097 106681097 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:106681097T>C uc001pjg.1 - 5 1704 c.1314A>G c.(1312-1314)CTA>CTG p.L438L GUCY1A2_uc010rvo.1_Silent_p.L459L|GUCY1A2_uc009yxn.1_Silent_p.L438L NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 438 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTGAGAGATGTAGCCCTCGGC 0.448 NA 21 88 0 0 0.002299 0 0 EXPH5 23086 broad.mit.edu 37 11 108382102 108382102 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:108382102C>G uc001pkk.2 - 6 4243 c.4132G>C c.(4132-4134)GAT>CAT p.D1378H EXPH5_uc010rvy.1_Missense_Mutation_p.D1190H|EXPH5_uc010rvz.1_Missense_Mutation_p.D1222H|EXPH5_uc010rwa.1_Missense_Mutation_p.D1302H NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1378 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTTCTGAATCACCTAGAGGT 0.373 NA 28 67 0 0 0.00632 0 0 DDX10 1662 broad.mit.edu 37 11 108810978 108810978 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:108810978C>T uc001pkm.2 + 18 2521 c.2456C>T c.(2455-2457)ACC>ATC p.T819I NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 819 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) ACCAGTGATACCAAGAAGAAG 0.393 NA T NUP98 AML* 5 68 0 0 0.000602 0 0 NCAM1 4684 broad.mit.edu 37 11 113078056 113078056 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:113078056G>C uc009yyq.1 + 6 1042 c.348G>C c.(346-348)GTG>GTC p.V116V NCAM1_uc001pno.2_Silent_p.V116V NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 234 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TCACCCTGGTGTGCGATGCCG 0.537 NA 26 85 0 0 0.00632 0 0 HTR3B 9177 broad.mit.edu 37 11 113815415 113815415 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:113815415G>C uc001pok.2 + 8 1095 c.1028G>C c.(1027-1029)CGA>CCA p.R343P HTR3B_uc001pol.2_Missense_Mutation_p.R332P NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 343 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TTGTGCCTTCGAGGGGACACC 0.552 NA 35 92 0 0 0.003755 0 0 SIK3 23387 broad.mit.edu 37 11 116729004 116729004 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:116729004T>C uc001ppy.2 - 20 2895 c.2859A>G c.(2857-2859)CAA>CAG p.Q953Q SIK3_uc001ppz.2_Silent_p.Q792Q|SIK3_uc001pqa.2_Silent_p.Q893Q|SIK3_uc001ppw.2_Silent_p.Q310Q|SIK3_uc001ppx.2_Silent_p.Q331Q|SIK3_uc001pqb.2_Silent_p.Q256Q NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 953 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 ATTCTtgctgttgctgctgtt 0.458 NA 5 45 0 0 0.000602 0 0 PCSK7 9159 broad.mit.edu 37 11 117100470 117100470 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:117100470G>T uc001pqr.2 - 3 292 c.91C>A c.(91-93)CTG>ATG p.L31M RNF214_uc001pqt.2_5'Flank|RNF214_uc001pqu.2_5'Flank|RNF214_uc010rxf.1_5'Flank NM_004716 NP_004707 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 31 peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) CAGGGAACCAGTAAGAAGAGC 0.652 NA T IGH@ MLCLS 14 37 7.93312e-07 9.75787e-07 0.00245 1 0 ATP5L 10632 broad.mit.edu 37 11 118279722 118279722 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:118279722T>A uc001psx.2 + 3 498 c.221T>A c.(220-222)GTG>GAG p.V74E NM_006476 NP_006467 O75964 ATP5L_HUMAN ATP synthase, H+ transporting, mitochondrial F0 74 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|protein binding 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05) CAGGAAGCTGTGCTGAATGGT 0.333 NA 5 69 0 0 0.000602 0 0 C2CD2L 9854 broad.mit.edu 37 11 118983228 118983228 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:118983228C>T uc001pvo.2 + 9 1480 c.1121C>T c.(1120-1122)TCC>TTC p.S374F C2CD2L_uc001pvn.2_Missense_Mutation_p.S374F NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 374 integral to membrane 0 CCTGTGGGCTCCCCCTCCAGA 0.652 NA 10 169 0 0 0.008291 0 0 HINFP 25988 broad.mit.edu 37 11 119002578 119002578 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:119002578G>T uc001pvp.2 + 6 751 c.562G>T c.(562-564)GAG>TAG p.E188* HINFP_uc001pvq.2_Nonsense_Mutation_p.E188*|HINFP_uc001pvr.2_5'UTR NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 188 C2H2-type 3. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TAAACTTCGAGAGCACCTCCG 0.547 NA 23 57 2.21704e-12 3.19626e-12 0.00278 1 0 PVRL1 5818 broad.mit.edu 37 11 119549368 119549368 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:119549368T>A uc001pwv.2 - 2 359 c.187A>T c.(187-189)ACC>TCC p.T63S PVRL1_uc001pwu.1_Missense_Mutation_p.T63S|PVRL1_uc001pww.2_Missense_Mutation_p.T63S NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 63 Extracellular (Potential).|Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GTGACCTGGGTGATCTTCACG 0.597 NA 9 38 0 0 0.004482 0 0 TECTA 7007 broad.mit.edu 37 11 120996267 120996267 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:120996267G>A uc010rzo.1 + 7 1460 c.1460G>A c.(1459-1461)GGA>GAA p.G487E NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 487 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGGATCTGGGAGAGAGCTGG 0.577 NA 7 179 0 0 0.00308 0 0 CRTAM 56253 broad.mit.edu 37 11 122738173 122738173 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:122738173A>G uc001pyj.2 + 8 874 c.874A>G c.(874-876)ACG>GCG p.T292A CRTAM_uc001pyk.2_Missense_Mutation_p.T93A NM_019604 NP_062550 O95727 CRTAM_HUMAN class-I MHC-restricted T cell associated 292 Helical; (Potential). cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding ovary(1) 1 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CCTGCTGCTCACGCTGGTGTC 0.413 NA 6 43 0 0 0.001168 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123480527 123480527 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:123480527A>C uc001pyx.2 + 12 1582 c.1253A>C c.(1252-1254)AAG>ACG p.K418T GRAMD1B_uc001pyw.2_Missense_Mutation_p.K425T|GRAMD1B_uc010rzw.1_Missense_Mutation_p.K378T|GRAMD1B_uc010rzx.1_Missense_Mutation_p.K378T|GRAMD1B_uc009zbe.1_Missense_Mutation_p.K414T|GRAMD1B_uc001pyy.2_Missense_Mutation_p.K109T NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 418 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CCATGGAAAAAGGAGGAGAAT 0.527 NA 3 17 0 0 0.004672 0 0 OR8D4 338662 broad.mit.edu 37 11 123777145 123777145 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:123777145G>T uc010saa.1 + 1 7 c.7G>T c.(7-9)GTA>TTA p.V3L NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AAGAATGGGTGTAAAAAACCA 0.378 NA 27 80 2.79863e-10 3.86478e-10 0.004656 1 0 OR4D5 219875 broad.mit.edu 37 11 123810867 123810867 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:123810867C>A uc001pzk.1 + 1 544 c.544C>A c.(544-546)CCT>ACT p.P182T NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 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) TTGTGATGTGCCTCAGCTGAT 0.478 NA 38 165 5.43694e-19 8.7014e-19 0.005524 1 0 ARHGAP32 9743 broad.mit.edu 37 11 128839516 128839516 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:128839516C>T uc009zcp.2 - 22 5550 c.5550G>A c.(5548-5550)CCG>CCA p.P1850P ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.P809P|ARHGAP32_uc001qez.2_Silent_p.P1501P NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1850 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 ATGGCTTCTCCGGCTGCGTGC 0.607 NA 10 74 0 0 0.006214 0 0 IGSF9B 22997 broad.mit.edu 37 11 133792462 133792462 + Splice_Site SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:133792462A>T uc001qgx.3 - 16 2512 c.2281_splice c.e16+1 p.D761_splice NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) ACAGACACCCACCTTTTTTGC 0.557 NA 4 28 0 0 0.000602 0 0 ANO2 57101 broad.mit.edu 37 12 5853336 5853336 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:5853336G>T uc001qnm.2 - 12 1398 c.1326C>A c.(1324-1326)TTC>TTA p.F442L NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 447 Helical; (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 ACAGAGCCATGAAGATAGAGA 0.542 NA 15 41 3.41278e-10 4.68714e-10 0.00499 1 0 LEPREL2 10536 broad.mit.edu 37 12 6942764 6942764 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:6942764G>C uc001qra.1 + 9 1255 c.1221G>C c.(1219-1221)TGG>TGC p.W407C LEPREL2_uc001qqz.1_Missense_Mutation_p.W214C|LEPREL2_uc001qrb.1_Missense_Mutation_p.W214C NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 407 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) AGGACCCCTGGACCCCTGCAG 0.557 NA 4 49 0 0 0.009096 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091224 11091224 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:11091224G>A uc010shi.1 - 1 583 c.583C>T c.(583-585)CTG>TTG p.L195L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 195 Helical; Name=5; (Potential). detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity 0 AACATTGCCAGGGACAAAGTA 0.423 NA 24 43 0 0 0.00333 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20893164 20893164 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:20893164G>T uc001rej.3 + 13 1950 c.1595G>T c.(1594-1596)GGA>GTA p.G532V SLCO1C1_uc010sii.1_Missense_Mutation_p.G532V|SLCO1C1_uc010sij.1_Missense_Mutation_p.G483V|SLCO1C1_uc009zip.2_Missense_Mutation_p.G366V|SLCO1C1_uc001rei.2_Missense_Mutation_p.G532V|SLCO1C1_uc010sik.1_Missense_Mutation_p.G414V NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 532 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TCTAAATCCGGAAATTCCTCA 0.353 NA 32 86 1.99505e-19 3.22113e-19 0.002445 1 0 SLCO1C1 53919 broad.mit.edu 37 12 20893173 20893173 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:20893173C>T uc001rej.3 + 13 1959 c.1604C>T c.(1603-1605)TCA>TTA p.S535L SLCO1C1_uc010sii.1_Missense_Mutation_p.S535L|SLCO1C1_uc010sij.1_Missense_Mutation_p.S486L|SLCO1C1_uc009zip.2_Missense_Mutation_p.S369L|SLCO1C1_uc001rei.2_Missense_Mutation_p.S535L|SLCO1C1_uc010sik.1_Missense_Mutation_p.S417L NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 535 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GGAAATTCCTCAGGCATAGTG 0.373 NA 34 89 0 0 0.003271 0 0 C12orf39 80763 broad.mit.edu 37 12 21680124 21680124 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:21680124C>T uc001rfa.1 + 3 294 c.143C>T c.(142-144)GCA>GTA p.A48V C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank NM_030572 NP_085049 Q9BT56 SPXN_HUMAN spexin precursor 48 extracellular region|nucleus|transport vesicle 0 CTGAAAGGGGCACGTAAGTTC 0.458 NA 37 60 0 0 0.004878 0 0 Unknown 0 broad.mit.edu 37 12 31297895 31297895 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:31297895C>G uc010sjy.1 - 13 1735 c.1735G>C c.(1735-1737)GCT>CCT p.A579P RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA CCATCCACAGCCCCGAGGGCA 0.468 NA 34 57 0 0 0.002836 0 0 FAM113B 91523 broad.mit.edu 37 12 47629773 47629773 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:47629773C>A uc001rpn.2 + 4 1658 c.927C>A c.(925-927)CGC>CGA p.R309R FAM113B_uc010slj.1_Silent_p.R189R|FAM113B_uc001rpq.2_Silent_p.R309R NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 309 Pro-rich. hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) caccccagcgcttgccgctgc 0.249 NA 20 40 4.35082e-09 5.81652e-09 0.010504 1 0 PRKAG1 5571 broad.mit.edu 37 12 49398789 49398789 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:49398789T>A uc001rsy.2 - 7 437 c.368A>T c.(367-369)CAG>CTG p.Q123L uc001rsw.2_Intron|PRKAG1_uc010smd.1_Missense_Mutation_p.Q91L|PRKAG1_uc001rsx.2_Missense_Mutation_p.Q39L|PRKAG1_uc001rsz.2_Missense_Mutation_p.Q132L|PRKAG1_uc009zlb.2_Intron|PRKAG1_uc010sme.1_Missense_Mutation_p.Q123L NM_002733 NP_002724 P54619 AAKG1_HUMAN AMP-activated protein kinase, noncatalytic 123 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding kidney(1) 1 AAAGGAGTCCTGGAGATACAC 0.463 NA 44 73 0 0 0.002522 0 0 TBC1D15 64786 broad.mit.edu 37 12 72290500 72290500 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:72290500T>C uc001swu.2 + 10 1154 c.1145T>C c.(1144-1146)CTG>CCG p.L382P TBC1D15_uc009zrv.2_Missense_Mutation_p.L244P|TBC1D15_uc010stt.1_Missense_Mutation_p.L351P|TBC1D15_uc001swv.2_Missense_Mutation_p.L365P|TBC1D15_uc001sww.2_Missense_Mutation_p.L114P NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 360 Rab-GAP TBC. protein binding|Rab GTPase activator activity 0 AAATTTCTTCTGGGTTATTTT 0.338 NA 20 45 0 0 0.002299 0 0 NAV3 89795 broad.mit.edu 37 12 78516179 78516179 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:78516179G>T uc001syp.2 + 16 4382 c.4209G>T c.(4207-4209)ACG>ACT p.T1403T NAV3_uc001syo.2_Silent_p.T1403T|NAV3_uc010sub.1_Silent_p.T903T|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1403 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCATGAGAACGGGTAGTGTGA 0.547 NA HNSCC(70;0.22) 26 57 3.6726e-16 5.65131e-16 0.003954 1 0 MYF5 4617 broad.mit.edu 37 12 81112714 81112714 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:81112714G>T uc001szg.2 + 3 787 c.652G>T c.(652-654)GAG>TAG p.E218* NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 218 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 CACCTCCTCAGAGCAACCTGG 0.488 NA 29 66 9.80776e-20 1.59033e-19 0.00632 1 0 MYF5 4617 broad.mit.edu 37 12 81112716 81112716 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:81112716G>T uc001szg.2 + 3 789 c.654G>T c.(652-654)GAG>GAT p.E218D NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 218 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 CCTCCTCAGAGCAACCTGGGT 0.493 NA 29 65 9.80776e-20 1.59033e-19 0.00632 1 0 SLC6A15 55117 broad.mit.edu 37 12 85277694 85277694 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:85277694C>G uc001szv.2 - 5 1193 c.700G>C c.(700-702)GCT>CCT p.A234P SLC6A15_uc010sul.1_Missense_Mutation_p.A127P|SLC6A15_uc001szy.2_Missense_Mutation_p.A234P NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 234 Helical; Name=4; (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 ACCCAGGCAGCCAACAAGCAG 0.443 NA 8 22 0 0 0.00308 0 0 VEZT 55591 broad.mit.edu 37 12 95650954 95650954 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:95650954C>T uc001tdz.2 + 3 302 c.197C>T c.(196-198)ACC>ATC p.T66I VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Missense_Mutation_p.T18I|VEZT_uc001tdt.2_Missense_Mutation_p.T18I|VEZT_uc009zsz.1_Missense_Mutation_p.T66I|VEZT_uc001tdv.2_Missense_Mutation_p.T35I|VEZT_uc001tdw.1_Missense_Mutation_p.T18I|VEZT_uc009zta.1_Missense_Mutation_p.T18I NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 66 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 GTGGCTGAAACCATCAAAAGT 0.348 NA 5 11 0 0 0.001984 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640545 99640545 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:99640545G>A uc001tge.1 - 13 2271 c.1854C>T c.(1852-1854)TCC>TCT p.S618S ANKS1B_uc001tgf.1_Silent_p.S198S|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Silent_p.S584S NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 618 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GATTTTCAGGGGACTCACAGG 0.468 NA 17 144 0 0 0.008871 0 0 FAM71C 196472 broad.mit.edu 37 12 100042361 100042361 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:100042361C>G uc001tgn.2 + 1 831 c.409C>G c.(409-411)CAG>GAG p.Q137E ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN hypothetical protein LOC196472 137 0 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CGTAAAAAAACAGCTCCACCT 0.468 NA 25 68 0 0 0.004656 0 0 STAB2 55576 broad.mit.edu 37 12 104071263 104071263 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:104071263C>A uc001tjw.2 + 25 2865 c.2679C>A c.(2677-2679)CAC>CAA p.H893Q NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 893 Extracellular (Potential).|EGF-like 8. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CGGGCACCCACACCTGCGTGT 0.542 NA 45 70 9.84934e-19 1.57006e-18 0.002522 1 0 NOS1 4842 broad.mit.edu 37 12 117768676 117768676 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:117768676C>T uc001twm.1 - 2 885 c.199G>A c.(199-201)GTC>ATC p.V67I NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 67 Interaction with NOSIP (By similarity).|PDZ. 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) CGGCCGTTGACCGCAAGAATG 0.632 Esophageal Squamous(162;1748 2599 51982 52956) NA 25 36 0 0 0.00278 0 0 STARD13 90627 broad.mit.edu 37 13 33692207 33692207 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:33692207T>C uc001uuw.2 - 8 2402 c.2276A>G c.(2275-2277)TAT>TGT p.Y759C STARD13_uc001uuu.2_Missense_Mutation_p.Y751C|STARD13_uc001uuv.2_Missense_Mutation_p.Y641C|STARD13_uc001uux.2_Missense_Mutation_p.Y724C|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 759 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTTACACTGATAGATATGGAG 0.403 NA 27 47 0 0 0.007291 0 0 DOCK9 23348 broad.mit.edu 37 13 99534187 99534187 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:99534187G>A uc001vnt.2 - 24 2692 c.2637C>T c.(2635-2637)CTC>CTT p.L879L DOCK9_uc001vnw.2_Silent_p.L878L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.L879L|DOCK9_uc010tis.1_Silent_p.L878L|DOCK9_uc010tit.1_Silent_p.L879L|DOCK9_uc010afu.1_Silent_p.L725L NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 879 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGGCTCTGGTGAGGACTCGGA 0.532 NA 4 7 0 0 0.009096 0 0 DOCK9 23348 broad.mit.edu 37 13 99537313 99537313 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:99537313C>T uc001vnt.2 - 21 2352 c.2297G>A c.(2296-2298)GGA>GAA p.G766E DOCK9_uc001vnw.2_Missense_Mutation_p.G765E|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.G766E|DOCK9_uc010tis.1_Missense_Mutation_p.G765E|DOCK9_uc010tit.1_Missense_Mutation_p.G766E|DOCK9_uc010afu.1_Missense_Mutation_p.G612E NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 766 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CACCACCCTTCCGTCTTTCAG 0.507 NA 11 15 0 0 0.000978 0 0 TM9SF2 9375 broad.mit.edu 37 13 100193814 100193814 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:100193814A>G uc001voj.1 + 9 1043 c.910A>G c.(910-912)ATT>GTT p.I304V TM9SF2_uc010afz.1_Missense_Mutation_p.I139V NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 304 Helical; (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) TTTCTACAGCATTATGAATTC 0.333 NA 33 64 0 0 0.009535 0 0 NALCN 259232 broad.mit.edu 37 13 101755671 101755671 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:101755671C>A uc001vox.1 - 26 3098 c.2909G>T c.(2908-2910)TGT>TTT p.C970F NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 970 Helical; Name=S3 of repeat III; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGGCATCCAACAAAGAAATAT 0.453 NA 18 47 7.07596e-05 8.14546e-05 0.006122 1 0 DAOA 267012 broad.mit.edu 37 13 106118662 106118662 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:106118662G>A uc001vqb.2 + 1 299 c.25G>A c.(25-27)GAT>AAT p.D9N DAOA_uc010tjf.1_5'UTR|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_5'UTR|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_5'Flank NM_172370 NP_758958 P59103 DAOA_HUMAN D-amino acid oxidase activator isoform 1 9 Golgi apparatus 0 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) gatgggtgctgattctctcca 0 NA 16 52 0 0 0.007413 0 0 DAOA 267012 broad.mit.edu 37 13 106142289 106142289 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:106142289G>T uc001vqb.2 + 4 595 c.321G>T c.(319-321)ATG>ATT p.M107I DAOA_uc010tjf.1_Missense_Mutation_p.M36I|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.M79I|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA NM_172370 NP_758958 P59103 DAOA_HUMAN D-amino acid oxidase activator isoform 1 107 Golgi apparatus 0 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) aagtcttcatggcaagaaact 0 NA 11 34 1.58986e-06 1.92726e-06 0.008291 1 0 FLJ10357 55701 broad.mit.edu 37 14 21542500 21542500 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:21542500A>T uc001vzp.2 + 3 640 c.611A>T c.(610-612)GAA>GTA p.E204V FLJ10357_uc001vzn.1_Missense_Mutation_p.E204V|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 204 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) CTGCCCCCAGAACTGCCCTCT 0.617 NA 11 36 0 0 0.001368 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21769217 21769217 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:21769217G>T uc001wag.2 + 3 311 c.311G>T c.(310-312)GGG>GTG p.G104V NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 104 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GCAAGGCGCGGGCAGAAGGCG 0.726 NA 6 37 5.9392e-07 7.40191e-07 0.001168 1 0 OR4E2 26686 broad.mit.edu 37 14 22133475 22133475 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:22133475A>T uc010tmd.1 + 1 179 c.179A>T c.(178-180)TAT>TTT p.Y60F NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) ACCCCCATGTATTTCTTCCTG 0.418 NA 75 235 0 0 0.00361 0 0 PSMB11 122706 broad.mit.edu 37 14 23511514 23511515 + Missense_Mutation DNP GG GG CT TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:23511514_23511515GG>CT uc010ake.1 + 1 139_140 c.80_81GG>CT c.(79-81)TGG>TCT p.W27S NM_001099780 NP_001093250 A5LHX3 PSB11_HUMAN proteasome beta 11 subunit precursor 27 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity 0 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GCTGGCGGCTGGGCTGTGCCCC 0.639 NA 6 113 0 0 0.004672 0 0 MYH6 4624 broad.mit.edu 37 14 23866757 23866757 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:23866757G>T uc001wjv.2 - 16 2024 c.1957C>A c.(1957-1959)CAC>AAC p.H653N NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 653 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTACCCGGTGGAGAGCCGAC 0.517 NA 10 69 3.86212e-05 4.48006e-05 0.008291 1 0 MYH6 4624 broad.mit.edu 37 14 23876424 23876424 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:23876424A>G uc001wjv.2 - 3 76 c.9T>C c.(7-9)GAT>GAC p.D3D MYH6_uc010akp.1_Silent_p.D3D NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 3 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCATCTGGGCATCGGTCATCT 0.617 NA 17 115 0 0 0.00499 0 0 LRFN5 145581 broad.mit.edu 37 14 42356834 42356834 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:42356834G>T uc001wvm.2 + 3 2204 c.1006G>T c.(1006-1008)GTG>TTG p.V336L LRFN5_uc010ana.2_Missense_Mutation_p.V336L NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 336 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAGATCTCTGGTGTATGATAA 0.453 NA HNSCC(30;0.082) 26 96 2.50493e-22 4.16017e-22 0.004656 1 0 FAM179B 23116 broad.mit.edu 37 14 45475342 45475342 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:45475342A>G uc001wvv.2 + 5 2985 c.2776A>G c.(2776-2778)AAA>GAA p.K926E FAM179B_uc001wvw.2_Missense_Mutation_p.K926E|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.K926E NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 926 binding skin(2)|upper_aerodigestive_tract(1) 3 TTTGCCTGATAAAGCTGATTT 0.423 NA 14 126 0 0 0.00245 0 0 FAM179B 23116 broad.mit.edu 37 14 45535891 45535891 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:45535891G>A uc001wvv.2 + 16 4720 c.4511G>A c.(4510-4512)CGT>CAT p.R1504H FAM179B_uc001wvw.2_Missense_Mutation_p.R1557H|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1504 binding skin(2)|upper_aerodigestive_tract(1) 3 AAAGACTTTCGTGATCGTATT 0.358 NA 6 82 0 0 0.001984 0 0 FANCM 57697 broad.mit.edu 37 14 45645568 45645568 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:45645568G>T uc001wwd.3 + 14 3710 c.3611G>T c.(3610-3612)CGT>CTT p.R1204L FANCM_uc010anf.2_Missense_Mutation_p.R1178L|FANCM_uc001wwe.3_Missense_Mutation_p.R740L|FANCM_uc010ang.2_Missense_Mutation_p.R418L NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1204 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TTTAAATCTCGTGATCAGAGA 0.353 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 13 61 0.00010058 0.000114731 0.001368 1 0 DACT1 51339 broad.mit.edu 37 14 59112433 59112433 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:59112433T>A uc001xdw.2 + 4 1256 c.1092T>A c.(1090-1092)GCT>GCA p.A364A DACT1_uc010trv.1_Silent_p.A83A|DACT1_uc001xdx.2_Silent_p.A327A|DACT1_uc010trw.1_Silent_p.A83A NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 364 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GCGTGAACGCTGACCCCACGA 0.517 NA 19 43 0 0 0.007413 0 0 ZBTB25 7597 broad.mit.edu 37 14 64957115 64957115 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:64957115G>C uc001xhf.2 - 2 320 c.137C>G c.(136-138)TCT>TGT p.S46C ZBTB25_uc001xhc.2_Missense_Mutation_p.S46C|ZBTB25_uc001xhg.2_Missense_Mutation_p.S46C NM_006977 NP_008908 P24278 ZBT25_HUMAN zinc finger protein 46 46 BTB. cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) GAAATAGTTAGAAAAAGCAGC 0.328 NA 13 72 0 0 0.001855 0 0 SLC39A9 55334 broad.mit.edu 37 14 69925101 69925101 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:69925101G>C uc001xle.2 + 7 1395 c.715G>C c.(715-717)GAG>CAG p.E239Q SLC39A9_uc010aqx.2_Missense_Mutation_p.E216Q|SLC39A9_uc001xlf.3_Intron|SLC39A9_uc001xlg.3_RNA NM_018375 NP_060845 Q9NUM3 S39A9_HUMAN solute carrier family 39 (zinc transporter), 239 zinc ion transport integral to membrane metal ion transmembrane transporter activity 0 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) AGCCCTTTCAGAGGTGAACGC 0.468 NA 7 177 0 0 0.001984 0 0 RGS6 9628 broad.mit.edu 37 14 72976888 72976888 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:72976888A>C uc001xna.3 + 14 1515 c.992A>C c.(991-993)AAA>ACA p.K331T RGS6_uc010ttn.1_Missense_Mutation_p.K331T|RGS6_uc001xmx.3_Missense_Mutation_p.K331T|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.K331T|RGS6_uc010ttp.1_Missense_Mutation_p.K262T|RGS6_uc001xmz.1_Missense_Mutation_p.K192T NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 331 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGCGAGTAAAAAGATGGGGC 0.468 Ovarian(143;1926 2468 21071 48641) NA 18 162 0 0 0.00499 0 0 C14orf43 91748 broad.mit.edu 37 14 74206049 74206049 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:74206049G>A uc001xot.2 - 2 1446 c.663C>T c.(661-663)TTC>TTT p.F221F C14orf43_uc001xou.2_Silent_p.F221F|C14orf43_uc010tud.1_Silent_p.F221F|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 221 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) CCTGGTGGCCGAATGCCAGCT 0.567 NA 7 71 0 0 0.00308 0 0 C14orf4 64207 broad.mit.edu 37 14 77492113 77492113 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:77492113G>C uc001xsy.2 - 1 2922 c.2023C>G c.(2023-2025)CGT>GGT p.R675G NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 675 nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) TCCCCGTTACGTGATGCCAAG 0.677 NA 9 41 0 0 0.004482 0 0 ISM2 145501 broad.mit.edu 37 14 77942393 77942393 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:77942393G>T uc001xtz.2 - 7 1335 c.1261C>A c.(1261-1263)CAG>AAG p.Q421K ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.Q333K|ISM2_uc010tvl.1_Missense_Mutation_p.Q340K NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 421 AMOP. extracellular region skin(1) 1 CGCAGCATCTGGCTCAGATAC 0.602 NA 17 45 6.94344e-10 9.43307e-10 0.006122 1 0 KCNK13 56659 broad.mit.edu 37 14 90651010 90651010 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:90651010G>T uc001xye.1 + 2 1332 c.890G>T c.(889-891)GGG>GTG p.G297V NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 297 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) ATGGACAGCGGGTGCTGCCCG 0.532 NA 17 91 6.49762e-13 9.47622e-13 0.006122 1 0 SERPINA1 5265 broad.mit.edu 37 14 94847330 94847330 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:94847330C>T uc001ycx.3 - 3 1056 c.795G>A c.(793-795)CTG>CTA p.L265L SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.L265L|SERPINA1_uc010aux.2_Silent_p.L265L|SERPINA1_uc001ycy.3_Silent_p.L265L|SERPINA1_uc010auy.2_Silent_p.L265L|SERPINA1_uc001ycz.3_Silent_p.L265L|SERPINA1_uc010auz.2_Silent_p.L265L|SERPINA1_uc010ava.2_Silent_p.L265L|SERPINA1_uc001ydb.3_Silent_p.L265L|SERPINA1_uc010avb.2_Silent_p.L265L|SERPINA1_uc001ydc.3_Silent_p.L265L|SERPINA1_uc001yda.1_Silent_p.L265L NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 265 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GGTATTTCATCAGCAGCACCC 0.512 NA Alpha-1-Antitrypsin_Deficiency 9 73 0 0 0.004482 0 0 TCL1B 9623 broad.mit.edu 37 14 96152829 96152829 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:96152829C>A uc001yez.2 + 1 67 c.25C>A c.(25-27)CTA>ATA p.L9I TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.L9I NM_004918 NP_004909 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 9 ovary(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TTCTGTGCGTCTAGGGGTGCC 0.602 NA 17 77 3.45872e-05 4.04321e-05 0.004007 1 0 PAPOLA 10914 broad.mit.edu 37 14 97022202 97022202 + Silent SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:97022202A>T uc001yfq.2 + 18 1893 c.1683A>T c.(1681-1683)CCA>CCT p.P561P PAPOLA_uc001yfr.2_Silent_p.P560P|PAPOLA_uc010twv.1_Silent_p.P561P|PAPOLA_uc010avp.2_Silent_p.P311P NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 561 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) GTCCTGCTCCAGCTGTAACAG 0.289 NSCLC(19;254 734 11908 35501 39234) NA 8 98 0 0 0.006214 0 0 TRPM1 4308 broad.mit.edu 37 15 31359339 31359339 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:31359339C>A uc001zfm.2 - 5 607 c.479G>T c.(478-480)AGA>ATA p.R160I TRPM1_uc010azy.2_Missense_Mutation_p.R73I|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 160 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AACCCGGCCTCTGGACTTGGA 0.488 NA 14 89 2.62699e-14 3.93006e-14 0.003163 1 0 RYR3 6263 broad.mit.edu 37 15 33603268 33603269 + Missense_Mutation DNP GG GG TT TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:33603268_33603269GG>TT uc001zhi.2 + 1 92_93 c.22_23GG>TT c.(22-24)GGC>TTC p.G8F RYR3_uc010bar.2_Missense_Mutation_p.G8F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 8 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGGAGAAGGAGGCGAGGACGAG 0.743 NA 7 17 0 0 0.004672 0 0 RYR3 6263 broad.mit.edu 37 15 34130564 34130564 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:34130564G>A uc001zhi.2 + 89 12453 c.12383G>A c.(12382-12384)GGT>GAT p.G4128D RYR3_uc010bar.2_Missense_Mutation_p.G4123D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4128 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAAATTGCGGGTGAAGAGGAA 0.493 NA 40 82 0 0 0.00874 0 0 SPRED1 161742 broad.mit.edu 37 15 38632064 38632064 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:38632064A>G uc001zka.3 + 5 885 c.550A>G c.(550-552)AGA>GGA p.R184G NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 184 inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TCTGAATGCCAGAAGAGTCTA 0.373 Melanoma(196;2146 2959 7698 16532) NA Legius_syndrome 14 34 0 0 0.00245 0 0 INO80 54617 broad.mit.edu 37 15 41377671 41377671 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:41377671C>T uc001zni.2 - 7 982 c.769G>A c.(769-771)GAT>AAT p.D257N INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 257 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.|Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 GGAGGTGCATCGTGAGAAAAC 0.458 NA 11 93 0 0 0.008291 0 0 TMEM62 80021 broad.mit.edu 37 15 43446871 43446871 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:43446871G>A uc001zqr.2 + 9 1303 c.1024G>A c.(1024-1026)GTC>ATC p.V342I TMEM62_uc010bda.2_Missense_Mutation_p.V212I NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 342 integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TCATTTTAGAGTCTTGGCCTT 0.378 NA 6 34 0 0 0.001168 0 0 KIAA1370 56204 broad.mit.edu 37 15 52905960 52905960 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:52905960T>A uc002acg.3 - 3 264 c.111A>T c.(109-111)GTA>GTT p.V37V KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Intron|KIAA1370_uc010ugf.1_Silent_p.V44V NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 37 0 all cancers(107;0.0803) TTCGACCTTTTACAGAACATT 0.428 NA 4 31 0 0 0.009096 0 0 WDR72 256764 broad.mit.edu 37 15 53809911 53809911 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:53809911G>A uc002acj.2 - 20 3336 c.3294C>T c.(3292-3294)CCC>CCT p.P1098P WDR72_uc010bfh.1_RNA NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1098 lung(1)|skin(1) 2 all cancers(107;0.0511) ACACCTTGCAGGGGCAGACCT 0.363 NA 20 88 0 0 0.001882 0 0 C15orf59 388135 broad.mit.edu 37 15 74043389 74043389 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:74043389C>T uc002avy.2 - 1 428 c.83G>A c.(82-84)CGC>CAC p.R28H NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 28 pancreas(1) 1 CATCTTCATGCGCTGTCGAAT 0.642 NA 14 90 0 0 0.001855 0 0 TM6SF1 53346 broad.mit.edu 37 15 83790720 83790720 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:83790720T>A uc002bjp.2 + 5 555 c.446T>A c.(445-447)ATG>AAG p.M149K TM6SF1_uc010bmq.2_Missense_Mutation_p.M149K|TM6SF1_uc002bjq.2_Missense_Mutation_p.M149K|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_Missense_Mutation_p.M1K NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 149 Helical; (Potential). integral to membrane ovary(1) 1 TCTATTATTATGAGTGTTGTT 0.318 NA 23 82 0 0 0.00333 0 0 PIGQ 9091 broad.mit.edu 37 16 624190 624190 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:624190C>G uc002cho.2 + 2 218 c.116C>G c.(115-117)CCC>CGC p.P39R PIGQ_uc010bqw.2_Missense_Mutation_p.P39R|PIGQ_uc002chm.2_Missense_Mutation_p.P39R|PIGQ_uc002chn.2_Missense_Mutation_p.P39R|PIGQ_uc010uui.1_Missense_Mutation_p.P53R NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 39 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1) 1 Hepatocellular(780;0.00335) CTGCACTTTCCCTTCATCCCC 0.701 NA 7 21 0 0 0.001984 0 0 PKD1 5310 broad.mit.edu 37 16 2160655 2160655 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:2160655C>A uc002cos.1 - 15 4722 c.4513G>T c.(4513-4515)GGT>TGT p.G1505C PKD1_uc002cot.1_Missense_Mutation_p.G1505C NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1505 Extracellular (Potential).|PKD 10. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 AGCCACCCACCGTCCCCCAGA 0.662 NA 27 43 4.31634e-10 5.89586e-10 0.002445 1 0 IL32 9235 broad.mit.edu 37 16 3119310 3119310 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:3119310A>T uc002cto.2 + 6 870 c.659A>T c.(658-660)GAG>GTG p.E220V IL32_uc002ctk.2_Missense_Mutation_p.E117V|IL32_uc010uwp.1_Missense_Mutation_p.E154V|IL32_uc010btb.2_Missense_Mutation_p.E164V|IL32_uc002ctl.2_Missense_Mutation_p.E174V|IL32_uc002ctm.2_Missense_Mutation_p.E174V|IL32_uc002ctn.2_Missense_Mutation_p.E174V|IL32_uc002cts.3_Missense_Mutation_p.E174V|IL32_uc002ctp.2_Missense_Mutation_p.E154V|IL32_uc002ctq.2_Missense_Mutation_p.E220V|IL32_uc002ctr.2_Missense_Mutation_p.E154V|IL32_uc002ctt.2_Missense_Mutation_p.E174V|IL32_uc010uwr.1_Missense_Mutation_p.E134V|IL32_uc002ctu.2_Missense_Mutation_p.E165V NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 220 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 GGGGACAAGGAGGAGCTGACA 0.582 NA 11 169 0 0 0.001368 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139379 3139379 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:3139379C>A uc002ctv.1 - 5 1979 c.1891G>T c.(1891-1893)GGC>TGC p.G631C ZSCAN10_uc002cty.1_Missense_Mutation_p.G292C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G549C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.G559C NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 631 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GGCCGCTCGCCCGTGTGGCTG 0.706 NA 8 38 5.18039e-06 6.20988e-06 0.00308 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3140317 3140317 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:3140317C>A uc002ctv.1 - 5 1041 c.953G>T c.(952-954)GGG>GTG p.G318V ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G236V|ZSCAN10_uc002ctx.1_Missense_Mutation_p.G246V NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 318 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GAAGGAGCGCCCAGCCGGGTG 0.672 NA 7 61 8.12818e-05 9.28583e-05 0.001984 1 0 ZNF263 10127 broad.mit.edu 37 16 3339416 3339416 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:3339416G>A uc002cuq.2 + 6 1242 c.910G>A c.(910-912)GAA>AAA p.E304K ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 304 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 TGAGAACCTGGAAGGTGTTCC 0.532 NA 30 150 0 0 0.003271 0 0 USP7 7874 broad.mit.edu 37 16 8999176 8999176 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:8999176C>G uc002czl.2 - 14 1640 c.1441G>C c.(1441-1443)GAT>CAT p.D481H USP7_uc010uyk.1_Missense_Mutation_p.D382H|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D382H|USP7_uc002czk.2_Missense_Mutation_p.D465H|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 481 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 ACGTCGTCATCAAATTTACAC 0.458 NA OREG0023595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 97 0 0 0.008871 0 0 PDILT 204474 broad.mit.edu 37 16 20370884 20370884 + Missense_Mutation SNP C C G rs148051428 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:20370884C>G uc002dhc.1 - 12 1735 c.1512G>C c.(1510-1512)TTG>TTC p.L504F NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 504 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 GCTCAACAGACAACAGCTATG 0.343 NA 13 84 0 0 0.001855 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926316 22926316 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:22926316C>A uc002dli.2 + 2 609 c.537C>A c.(535-537)CCC>CCA p.P179P HS3ST2_uc002dlj.2_RNA NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN heparan sulfate D-glucosaminyl 179 Lumenal (Potential).|Substrate binding (By similarity). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(48;0.0299) AGAAGACGCCCAGCTACTTTG 0.567 NA 35 55 1.08052e-11 1.54301e-11 0.004289 1 0 PRKCB 5579 broad.mit.edu 37 16 24185863 24185863 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:24185863C>G uc002dmd.2 + 12 1553 c.1356C>G c.(1354-1356)ATC>ATG p.I452M PRKCB_uc002dme.2_Missense_Mutation_p.I452M NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 452 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) AAATTGCCATCGGTCTGTTCT 0.423 NA 3 48 0 0 0.004672 0 0 CACNG3 10368 broad.mit.edu 37 16 24372682 24372682 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:24372682A>T uc002dmf.2 + 4 1646 c.446A>T c.(445-447)AAC>ATC p.N149I NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 149 Helical; (Potential). 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) GGGTTAAGCAACATCATTGGC 0.413 NA 32 124 0 0 0.002836 0 0 ITGAL 3683 broad.mit.edu 37 16 30505533 30505533 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:30505533G>T uc002dyi.3 + 12 1390 c.1214G>T c.(1213-1215)GGT>GTT p.G405V ITGAL_uc002dyj.3_Missense_Mutation_p.G322V|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 405 FG-GAP 4.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CTTTCCTCAGGTTACACCGTG 0.602 NSCLC(110;1462 1641 3311 33990 49495) NA 32 85 4.65686e-17 7.29995e-17 0.003755 1 0 ZNF629 23361 broad.mit.edu 37 16 30793054 30793054 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:30793054T>A uc002dzs.1 - 3 2803 c.2595A>T c.(2593-2595)CCA>CCT p.P865P NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 865 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) GGGAGACACCTGGGTGGCAGC 0.562 NA 10 37 0 0 0.006214 0 0 ITGAM 3684 broad.mit.edu 37 16 31283197 31283197 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:31283197C>G uc002ebq.2 + 7 686 c.588C>G c.(586-588)TTC>TTG p.F196L ITGAM_uc002ebr.2_Missense_Mutation_p.F196L NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 196 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CTGAAGAATTCCGGATTCACT 0.557 NA 16 45 0 0 0.004007 0 0 ITGAD 3681 broad.mit.edu 37 16 31408773 31408773 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:31408773C>G uc002ebv.1 + 3 280 c.231C>G c.(229-231)ATC>ATG p.I77M ITGAD_uc010vfl.1_Missense_Mutation_p.I77M|ITGAD_uc010cap.1_Missense_Mutation_p.I77M|ITGAD_uc002ebw.1_5'Flank NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 77 FG-GAP 2.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 GCCAGCCCATCCCGCTGCACA 0.647 NA 2 11 0 0 0.004672 0 0 ABCC11 85320 broad.mit.edu 37 16 48250146 48250146 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:48250146T>C uc002eff.1 - 6 1180 c.830A>G c.(829-831)TAT>TGT p.Y277C ABCC11_uc002efg.1_Missense_Mutation_p.Y277C|ABCC11_uc002efh.1_Missense_Mutation_p.Y277C|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.Y277C NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 277 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TAGGGGTCCATAGCACACCCC 0.478 NA Cerumen_Type 22 134 0 0 0.004656 0 0 ZNF423 23090 broad.mit.edu 37 16 49671294 49671294 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:49671294T>C uc002efs.2 - 5 2067 c.1769A>G c.(1768-1770)AAC>AGC p.N590S ZNF423_uc010vgn.1_Missense_Mutation_p.N473S NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 590 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) CAGTGGAATGTTCTTGTGGTT 0.572 NA 21 78 0 0 0.010504 0 0 CES3 23491 broad.mit.edu 37 16 66997479 66997479 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:66997479C>G uc002eqt.2 + 3 446 c.373C>G c.(373-375)CTG>GTG p.L125V CES3_uc010cdz.2_Missense_Mutation_p.L125V|CES3_uc010cea.2_RNA NM_024922 NP_079198 Q6UWW8 EST3_HUMAN carboxylesterase 3 precursor 125 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity ovary(3)|central_nervous_system(2) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) AGAGGACTGCCTGGTCCTCAA 0.592 NA 5 46 0 0 0.000602 0 0 VAC14 55697 broad.mit.edu 37 16 70778352 70778352 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:70778352C>A uc002ezm.2 - 13 1760 c.1502G>T c.(1501-1503)GGC>GTC p.G501V VAC14_uc010cfw.2_Missense_Mutation_p.G267V|VAC14_uc002ezn.2_Missense_Mutation_p.G66V|VAC14_uc010cfx.1_5'UTR NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Vac14 homolog 501 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity pancreas(1)|skin(1) 2 Ovarian(137;0.0699) GCCGGCTCTGCCAGGGGTGGG 0.647 NA 7 47 1.08611e-07 1.3951e-07 0.000978 1 0 TAF1C 9013 broad.mit.edu 37 16 84212974 84212974 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:84212974C>A uc002fhn.2 - 14 2411 c.2183G>T c.(2182-2184)CGA>CTA p.R728L TAF1C_uc002fhm.2_Missense_Mutation_p.R634L|TAF1C_uc010vnx.1_Missense_Mutation_p.R702L|TAF1C_uc010vny.1_Missense_Mutation_p.R319L|TAF1C_uc010vnz.1_Missense_Mutation_p.R396L|TAF1C_uc002fho.2_Missense_Mutation_p.R251L|TAF1C_uc010voa.1_Missense_Mutation_p.R396L|TAF1C_uc002fhp.1_Intron NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 728 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 GGCAGCCCCTCGGCCTGCCCA 0.706 NA 15 17 1.52009e-12 2.20838e-12 0.003163 1 0 TP53 7157 broad.mit.edu 37 17 7579485 7579485 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:7579485C>A uc002gim.2 - 4 396 c.202G>T c.(202-204)GAG>TAG p.E68* TP53_uc002gig.1_Nonsense_Mutation_p.E68*|TP53_uc002gih.2_Nonsense_Mutation_p.E68*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.E68*|TP53_uc010cni.1_Nonsense_Mutation_p.E68*|TP53_uc002gij.2_Nonsense_Mutation_p.E68*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.E29*|TP53_uc010cnk.1_Nonsense_Mutation_p.E83* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 68 Interaction with WWOX.|Interaction with HRMT1L2. E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.E68*(4)|p.G59fs*23(3)|p.E68G(2)|p.E68fs*55(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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) GGAGCAGCCTCTGGCATTCTG 0.607 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) 58 99 1.64573e-32 2.8526e-32 0.00361 1 0 MYH4 4622 broad.mit.edu 37 17 10354208 10354208 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:10354208C>A uc002gmn.2 - 29 3981 c.3870G>T c.(3868-3870)GAG>GAT p.E1290D uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1290 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GTCGTGAAAACTCACCTGTGG 0.353 NA 38 73 1.59361e-14 2.39359e-14 0.006999 1 0 MYH1 4619 broad.mit.edu 37 17 10409131 10409131 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:10409131C>A uc002gmo.2 - 19 2266 c.2172G>T c.(2170-2172)CAG>CAT p.Q724H uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 724 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TGTCTGACCTCTGTTTGAAGT 0.383 NA 15 36 2.4624e-09 3.30953e-09 0.008871 1 0 DNAH9 1770 broad.mit.edu 37 17 11772454 11772454 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:11772454C>T uc002gne.2 + 51 10005 c.9937C>T c.(9937-9939)CTT>TTT p.L3313F DNAH9_uc010coo.2_Missense_Mutation_p.L2607F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3313 Stalk (By similarity).|Potential. 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) TAAACAGCACCTTAATGAAAA 0.388 NA 23 72 0 0 0.003954 0 0 SDF2 6388 broad.mit.edu 37 17 26982498 26982498 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:26982498C>A uc002hbw.2 - 2 194 c.155G>T c.(154-156)AGT>ATT p.S52I SDF2_uc002hbx.2_RNA NM_006923 NP_008854 Q99470 SDF2_HUMAN stromal cell-derived factor 2 precursor 52 MIR 1. protein glycosylation extracellular space|membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity 0 Lung NSC(42;0.00431) CTGCTGCCCACTACCTGCAGT 0.517 NA 33 115 3.11337e-16 4.80058e-16 0.002836 1 0 CORO6 84940 broad.mit.edu 37 17 27944550 27944550 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:27944550T>A uc002hel.2 - 5 723 c.721A>T c.(721-723)ATG>TTG p.M241L CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 241 WD 4. actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CGCTGGCTCATGCGGGTGAAG 0.697 NA 10 25 0 0 0.008291 0 0 SLC6A4 6532 broad.mit.edu 37 17 28544217 28544217 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:28544217G>A uc002hey.3 - 6 1348 c.804C>T c.(802-804)TTC>TTT p.F268F NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 268 Helical; Name=4; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TCCAGATGCTGAAGTAGATAA 0.597 NA 29 102 0 0 0.00632 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29854858 29854858 + Splice_Site SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:29854858A>G uc002hgn.1 + 11 1504 c.1275_splice c.e11-2 p.R425_splice RAB11FIP4_uc002hgo.2_Splice_Site_p.R323_splice NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TCCTTTCGCCAGGGTGCAGCA 0.483 NA 4 11 0 0 0.009096 0 0 NLE1 54475 broad.mit.edu 37 17 33469093 33469093 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:33469093C>A uc002hiy.1 - 2 95 c.67G>T c.(67-69)GAT>TAT p.D23Y NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR NM_018096 NP_060566 Q9NVX2 NLE1_HUMAN Notchless gene homolog isoform a 23 nucleolus breast(3)|ovary(1) 4 Ovarian(249;0.17) CCGCCCTCATCCTGGAACTGC 0.687 NA 7 20 0.00448238 0.00474679 0.004482 1 0 TAF15 8148 broad.mit.edu 37 17 34171540 34171540 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:34171540G>A uc002hkd.2 + 15 1323 c.1237G>A c.(1237-1239)GGA>AGA p.G413R TAF15_uc002hkc.2_Missense_Mutation_p.G410R NM_139215 NP_631961 Q92804 RBP56_HUMAN TBP-associated factor 15 isoform 1 413 Arg/Gly-rich.|1.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) bone(33)|lung(1)|skin(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGGCAGAggtggagaccgagg 0.269 NA T TEC|CHN1|ZNF384 extraskeletal myxoid chondrosarcomas|ALL 39 115 0 0 0.004878 0 0 C17orf78 284099 broad.mit.edu 37 17 35745728 35745728 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:35745728C>A uc002hns.2 + 5 682 c.632C>A c.(631-633)CCT>CAT p.P211H ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Intron NM_173625 NP_775896 Q8N4C9 CQ078_HUMAN hypothetical protein LOC284099 211 integral to membrane 0 Breast(25;0.00295)|Ovarian(249;0.15) GTCCCATGTCCTGTAAGTTTG 0.308 NA 8 19 0.000157383 0.000177645 0.00308 1 0 KRT38 8687 broad.mit.edu 37 17 39597091 39597091 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:39597091A>G uc002hwq.1 - 1 506 c.83T>C c.(82-84)ATC>ACC p.I28T NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 28 Head. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) CCCAATGTCGATGGGAGAGAC 0.602 NA 13 65 0 0 0.001855 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40174504 40174504 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:40174504A>G uc002hyq.2 + 3 247 c.182A>G c.(181-183)GAC>GGC p.D61G NKIRAS2_uc010wgd.1_Intron|NKIRAS2_uc002hyr.2_Missense_Mutation_p.D61G|NKIRAS2_uc002hys.2_Missense_Mutation_p.D61G|NKIRAS2_uc010wge.1_Intron|NKIRAS2_uc002hyt.2_Missense_Mutation_p.D61G NM_001001349 NP_001001349 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 isoform a 61 GTP (By similarity).|Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity ovary(1) 1 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CGTTTCTATGACACCCGGGGG 0.562 NA 5 29 0 0 0.000602 0 0 NAGLU 4669 broad.mit.edu 37 17 40690377 40690377 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:40690377G>C uc002hzv.2 + 3 892 c.552G>C c.(550-552)CTG>CTC p.L184L NM_000263 NP_000254 P54802 ANAG_HUMAN alpha-N-acetylglucosaminidase precursor 184 lysosome alpha-N-acetylglucosaminidase activity 0 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCTTGGGCCTGACCCAGGCAG 0.448 NA 16 196 0 0 0.004007 0 0 MEOX1 4222 broad.mit.edu 37 17 41738734 41738734 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:41738734C>A uc002idz.2 - 1 198 c.169G>T c.(169-171)GCA>TCA p.A57S MEOX1_uc002iea.2_Missense_Mutation_p.A57S|MEOX1_uc002ieb.2_5'UTR NM_004527 NP_004518 P50221 MEOX1_HUMAN mesenchyme homeobox 1 isoform 1 57 nucleus sequence-specific DNA binding 0 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GGGTACGCTGCCGTCGCTGTC 0.642 NA 23 45 6.21321e-17 9.6993e-17 0.00278 1 0 CD300LG 146894 broad.mit.edu 37 17 41926217 41926217 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:41926217G>A uc002iem.2 + 2 376 c.335G>A c.(334-336)CGG>CAG p.R112Q CD300LG_uc002iek.1_Missense_Mutation_p.R112Q|CD300LG_uc002iel.1_Missense_Mutation_p.R112Q|CD300LG_uc010czk.2_Missense_Mutation_p.R112Q|CD300LG_uc010wil.1_Missense_Mutation_p.R112Q|CD300LG_uc010czl.2_Missense_Mutation_p.R112Q NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g precursor 112 Extracellular (Potential).|Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity 0 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GTCGAAAAACGGGGCCCCGAT 0.582 NA 17 72 0 0 0.006122 0 0 C17orf104 284071 broad.mit.edu 37 17 42745405 42745405 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:42745405T>A uc010czv.2 + 5 2126 c.2126T>A c.(2125-2127)TTA>TAA p.L709* C17orf104_uc002igy.1_Nonsense_Mutation_p.L543*|C17orf104_uc002igz.3_Nonsense_Mutation_p.L543*|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Nonsense_Mutation_p.L543* NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 709 central_nervous_system(1) 1 TCCTATGACTTACTTTCTTAT 0.368 NA 8 16 0 0 0.006214 0 0 EFTUD2 9343 broad.mit.edu 37 17 42930740 42930740 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:42930740C>G uc002ihn.2 - 25 2746 c.2485G>C c.(2485-2487)GAG>CAG p.E829Q EFTUD2_uc010wje.1_Missense_Mutation_p.E794Q|EFTUD2_uc010wjf.1_Missense_Mutation_p.E819Q NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 829 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) TAGTAAGGCTCCATCAGACGA 0.587 Ovarian(10;65 485 10258 29980 30707) NA 30 96 0 0 0.00632 0 0 PLCD3 113026 broad.mit.edu 37 17 43192477 43192477 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:43192477G>C uc002iib.2 - 11 1810 c.1696C>G c.(1696-1698)CTC>GTC p.L566V NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN phospholipase C delta 3 566 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|lung(1) 3 Phosphatidylserine(DB00144) TCCCGAATGAGTTTCTTGGCT 0.647 NA 2 11 0 0 0.004672 0 0 TBX21 30009 broad.mit.edu 37 17 45822141 45822141 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:45822141C>A uc002ilv.1 + 6 1228 c.1017C>A c.(1015-1017)ATC>ATA p.I339I NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 339 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 ACACCAGCATCCCCTCCCCGC 0.527 NA 37 151 1.69901e-12 2.45884e-12 0.005524 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48594812 48594812 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:48594812C>A uc010wmr.1 + 3 654 c.492C>A c.(490-492)TCC>TCA p.S164S MYCBPAP_uc002iqx.2_Silent_p.S164S|MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 127 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGGACTACTCCGGTACACCCA 0.517 NA 44 110 5.78141e-17 9.04395e-17 0.003214 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48916967 48916967 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:48916967C>A uc002isv.3 + 2 1012 c.318C>A c.(316-318)CCC>CCA p.P106P WFIKKN2_uc010dbu.2_Silent_p.P13P NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 106 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGGGCATGCCCAAGGAGGCCA 0.587 NA 9 25 0.000274275 0.000303231 0.004482 1 0 MPO 4353 broad.mit.edu 37 17 56355306 56355306 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:56355306C>A uc002ivu.1 - 7 1263 c.1086G>T c.(1084-1086)CTG>CTT p.L362L NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 362 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) TGACGGCCAGCAGCCCCAGCT 0.642 NA 8 58 5.18039e-06 6.20988e-06 0.00308 1 0 ACE 1636 broad.mit.edu 37 17 61557855 61557855 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:61557855C>A uc002jau.1 + 5 835 c.813C>A c.(811-813)ATC>ATA p.I271I ACE_uc010wpi.1_Silent_p.I271I|ACE_uc010ddu.1_Silent_p.I88I NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 271 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACAGATACATCAACCTCAGGG 0.612 NA 22 96 0.000375601 0.000414646 0.00278 1 0 SCN4A 6329 broad.mit.edu 37 17 62041161 62041161 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:62041161C>A uc002jds.1 - 10 1554 c.1477G>T c.(1477-1479)GGT>TGT p.G493C NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 493 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GCCTCCCCACCTTCCAGAGCT 0.617 NA 8 8 0.000274275 0.000303231 0.004482 1 0 HELZ 9931 broad.mit.edu 37 17 65103393 65103393 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:65103393C>A uc010wqk.1 - 31 5323 c.5136G>T c.(5134-5136)CAG>CAT p.Q1712H HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1711H NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CAAAAGGGTTCTGCGGTGGCC 0.473 NA 35 218 3.90053e-15 5.92943e-15 0.002445 1 0 SLC16A6 9120 broad.mit.edu 37 17 66267221 66267221 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:66267221G>T uc002jgz.1 - 5 1268 c.1080C>A c.(1078-1080)TAC>TAA p.Y360* ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Nonsense_Mutation_p.Y360* NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 360 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) TGAGCTCAATGTAAATCTTAC 0.433 NA 38 104 6.05902e-23 1.0085e-22 0.003755 1 0 CDC42EP4 23580 broad.mit.edu 37 17 71282496 71282496 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:71282496C>T uc002jjn.2 - 2 291 c.144G>A c.(142-144)GGG>GGA p.G48G CDC42EP4_uc002jjo.2_Silent_p.G48G|CDC42EP4_uc002jjp.1_Silent_p.G48G NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 48 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) AGGAGGTGTCCCCAAAGGCGT 0.647 NA 7 58 0 0 0.001984 0 0 DNAI2 64446 broad.mit.edu 37 17 72308204 72308204 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:72308204G>T uc002jkf.2 + 12 1656 c.1557G>T c.(1555-1557)CTG>CTT p.L519L DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 519 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 AGATGCGGCTGAAGGAGAAGG 0.647 NA Kartagener_syndrome 4 37 2.56e-06 3.08838e-06 0.009096 1 0 KIF19 124602 broad.mit.edu 37 17 72341016 72341016 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:72341016G>T uc002jkm.3 + 7 837 c.699G>T c.(697-699)CGG>CGT p.R233R KIF19_uc002jkj.2_Silent_p.R233R|KIF19_uc002jkk.2_Silent_p.R191R|KIF19_uc002jkl.2_Silent_p.R191R NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 233 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 AGCGCAGCCGGGTCAAGAACA 0.692 NA 12 34 2.27111e-07 2.87801e-07 0.001368 1 0 EVPL 2125 broad.mit.edu 37 17 74003663 74003663 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:74003663C>T uc002jqi.2 - 22 5851 c.5623G>A c.(5623-5625)GAG>AAG p.E1875K EVPL_uc010wss.1_Missense_Mutation_p.E1897K|EVPL_uc010wst.1_Missense_Mutation_p.E1345K NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1875 Globular 2.|Plectin 4. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 GAGTAGCGCTCACGGCTGAGC 0.632 NA 11 131 0 0 0.001368 0 0 BAHCC1 57597 broad.mit.edu 37 17 79408995 79408995 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:79408995C>G uc002kaf.2 + 3 620 c.620C>G c.(619-621)TCC>TGC p.S207C BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 207 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) GAGGCAGGCTCCCTGCAGAAG 0.711 NA 5 64 0 0 0.000602 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891640 2891640 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:2891640C>A uc002kln.2 + 4 1674 c.1515C>A c.(1513-1515)CTC>CTA p.L505L NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 505 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) GGAGCGTTCTCCTACAGATGA 0.547 NA 10 77 4.68919e-08 6.11704e-08 0.008291 1 0 DLGAP1 9229 broad.mit.edu 37 18 3879681 3879681 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:3879681G>T uc002kmf.2 - 1 455 c.388C>A c.(388-390)CAC>AAC p.H130N DLGAP1_uc010wyz.1_Missense_Mutation_p.H130N|DLGAP1_uc002kmk.2_Missense_Mutation_p.H130N|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 130 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) TCGCTGCGGTGCTCCACGGCC 0.677 NA 31 90 3.99451e-17 6.28781e-17 0.009535 1 0 LAMA1 284217 broad.mit.edu 37 18 6978258 6978258 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:6978258G>T uc002knm.2 - 43 6221 c.6127C>A c.(6127-6129)CTG>ATG p.L2043M LAMA1_uc010wzj.1_Missense_Mutation_p.L1519M NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2043 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCCTGGACAGGCTGGCAGAT 0.597 NA 14 108 9.31168e-06 1.11092e-05 0.001855 1 0 C18orf1 753 broad.mit.edu 37 18 13645348 13645348 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:13645348G>T uc002ksa.2 + 7 1281 c.613G>T c.(613-615)GTG>TTG p.V205L C18orf1_uc002ksb.2_Missense_Mutation_p.V187L|C18orf1_uc002kse.2_Missense_Mutation_p.V168L|C18orf1_uc002ksf.2_Missense_Mutation_p.V150L|C18orf1_uc002ksg.1_Missense_Mutation_p.V128L|C18orf1_uc002ksh.1_Missense_Mutation_p.V147L|C18orf1_uc002ksi.1_Missense_Mutation_p.V129L NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 205 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) CCGAGAGTCCGTGAGGGCCCC 0.582 NA 11 81 6.40141e-05 7.38022e-05 0.000978 1 0 HRH4 59340 broad.mit.edu 37 18 22056937 22056937 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:22056937T>C uc002kvi.2 + 3 684 c.584T>C c.(583-585)ATG>ACG p.M195T HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.M107T NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 195 Cytoplasmic (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TATTTCAACATGAATATTTAT 0.438 NA 34 139 0 0 0.003271 0 0 CDH2 1000 broad.mit.edu 37 18 25591899 25591900 + Missense_Mutation DNP GG GG AT TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:25591899_25591900GG>AT uc002kwg.2 - 4 915_916 c.456_457CC>AT c.(454-459)GGCCAC>GGATAC p.H153Y CDH2_uc010xbn.1_Missense_Mutation_p.H122Y NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 153 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CTTTGTAGGTGGCCACTGTGCT 0.45 NA 11 102 0 0 0.004672 0 0 DSC2 1824 broad.mit.edu 37 18 28648052 28648052 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:28648052C>G uc002kwl.3 - 16 3089 c.2635G>C c.(2635-2637)GAT>CAT p.D879H DSC2_uc002kwk.3_3'UTR NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 879 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCAAGCCCATCTTCTTCTTGT 0.428 NA 9 65 0 0 0.006214 0 0 DSG3 1830 broad.mit.edu 37 18 29049188 29049188 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:29049188C>T uc002kws.2 + 12 1882 c.1773C>T c.(1771-1773)AAC>AAT p.N591N NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 591 Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTGTGACAACAGGGGCATCT 0.582 NA 19 92 0 0 0.008871 0 0 KLHL14 57565 broad.mit.edu 37 18 30349625 30349625 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:30349625C>A uc002kxm.1 - 2 1318 c.930G>T c.(928-930)AGG>AGT p.R310S NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 310 cytosol|endoplasmic reticulum membrane ovary(1) 1 CCAGGCTCTGCCTGCAGTGCT 0.403 NA 8 49 0.00448238 0.00474679 0.004482 1 0 KIAA1632 57724 broad.mit.edu 37 18 43531136 43531136 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:43531136T>G uc002lbm.2 - 4 1421 c.1321A>C c.(1321-1323)ATG>CTG p.M441L KIAA1632_uc002lbo.1_Missense_Mutation_p.M441L NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 441 autophagy 0 CTGGTGAACATGAATAAGACA 0.383 NA 4 28 0 0 0.009096 0 0 ALPK2 115701 broad.mit.edu 37 18 56246487 56246487 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:56246487C>A uc002lhj.3 - 4 1735 c.1521G>T c.(1519-1521)GGG>GGT p.G507G NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 507 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 ACTGGCTCATCCCTGAGTTTT 0.512 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 152 5.49717e-05 6.36692e-05 0.00333 1 0 ZNF532 55205 broad.mit.edu 37 18 56606832 56606832 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:56606832G>T uc002lho.2 + 6 3231 c.2684G>T c.(2683-2685)GGC>GTC p.G895V ZNF532_uc002lhp.2_Missense_Mutation_p.G893V|ZNF532_uc010xeg.1_Missense_Mutation_p.G893V|ZNF532_uc002lhr.2_Missense_Mutation_p.G893V|ZNF532_uc002lhs.2_Missense_Mutation_p.G893V NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 895 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 CAGCATCCTGGCATCAAGATA 0.428 NA 19 77 1.96292e-10 2.72568e-10 0.010504 1 0 SERPINB13 5275 broad.mit.edu 37 18 61264493 61264493 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:61264493G>T uc002ljc.2 + 8 1240 c.1072G>T c.(1072-1074)GCC>TCC p.A358S SERPINB13_uc002ljd.2_Missense_Mutation_p.A222S|SERPINB13_uc010xep.1_Missense_Mutation_p.A367S|SERPINB13_uc010xeq.1_Missense_Mutation_p.A179S|SERPINB13_uc010xer.1_Missense_Mutation_p.A179S NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 358 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 TGTCACATCCGCCCCAGGTCA 0.512 NA 10 70 1.58986e-06 1.92726e-06 0.008291 1 0 ZNF236 7776 broad.mit.edu 37 18 74680239 74680239 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:74680239G>T uc002lmi.2 + 31 5680 c.5482G>T c.(5482-5484)GAG>TAG p.E1828* ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1828 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCTCCACCTGGAGGAGGTGGT 0.587 NA 16 78 1.15088e-07 1.47328e-07 0.004007 1 0 SHC2 25759 broad.mit.edu 37 19 419036 419036 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:419036C>G uc002loq.3 - 12 1641 c.1641G>C c.(1639-1641)CTG>CTC p.L547L SHC2_uc002lop.3_Silent_p.L288L NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 547 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGCTCTCAAACAGCACGTCCT 0.652 NA 4 3 0 0 0.009096 0 0 MATK 4145 broad.mit.edu 37 19 3779573 3779573 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:3779573G>A uc002lyt.2 - 10 1285 c.885C>T c.(883-885)ATC>ATT p.I295I MATK_uc002lyv.2_Silent_p.I296I|MATK_uc002lyu.2_Silent_p.I254I|MATK_uc010dtq.2_Silent_p.I295I NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 295 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGTGCAGGATCACGCCCA 0.711 NA 7 11 0 0 0.001984 0 0 TICAM1 148022 broad.mit.edu 37 19 4817343 4817343 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:4817343G>C uc002mbi.2 - 2 1298 c.1047C>G c.(1045-1047)TGC>TGG p.C349W NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 349 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GAGTAGGTGGGCACGGCTTGG 0.478 NA 21 40 0 0 0.002299 0 0 C19orf59 199675 broad.mit.edu 37 19 7742570 7742570 + Nonsense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:7742570C>T uc002mhh.1 + 2 167 c.142C>T c.(142-144)CAG>TAG p.Q48* NM_174918 NP_777578 Q8IX19 MCEM1_HUMAN mast cell-expressed membrane protein 1 48 Cytoplasmic (Potential). integral to membrane skin(1) 1 CTTCAAAAATCAGGACCATGC 0.577 NA OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 54 0 0 0.00278 0 0 MUC16 94025 broad.mit.edu 37 19 9046547 9046547 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:9046547G>T uc002mkp.2 - 5 35288 c.35084C>A c.(35083-35085)CCA>CAA p.P11695Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11697 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTGGTCTGTGGAGGATGAGT 0.522 NA 45 75 5.44703e-19 8.7014e-19 0.009718 1 0 MUC16 94025 broad.mit.edu 37 19 9086904 9086904 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:9086904C>T uc002mkp.2 - 1 5115 c.4911G>A c.(4909-4911)GGG>GGA p.G1637G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1637 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TACTACTGCTCCCTGTTGTTG 0.498 NA 46 88 0 0 0.00361 0 0 CACNA1A 773 broad.mit.edu 37 19 13386728 13386728 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:13386728G>T uc010dze.2 - 24 4164 c.3928C>A c.(3928-3930)CGT>AGT p.R1310S CACNA1A_uc010xnd.1_Missense_Mutation_p.R15S|CACNA1A_uc002mwx.3_Missense_Mutation_p.R15S|CACNA1A_uc010dzc.2_Missense_Mutation_p.R835S|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1309S|CACNA1A_uc010xne.1_Missense_Mutation_p.R838S NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1310 III.|Helical; Name=S3 of repeat III; (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CAGAGGTCACGGAAGTAGGCA 0.572 NA 12 21 1.05317e-09 1.42566e-09 0.00245 1 0 Unknown 0 broad.mit.edu 37 19 23405513 23405513 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:23405513C>A uc010xri.1 - 4 1652 c.1534G>T c.(1534-1536)GGC>TGC p.G512C SubName: Full=cDNA FLJ56866, moderately similar to Zinc finger protein 43; NA AAAGCTTTGCCACATTCTTTA 0.373 NA 17 28 1.99824e-07 2.54076e-07 0.00499 1 0 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 NA 4 46 0 0 0.009096 0 0 CHST8 64377 broad.mit.edu 37 19 34180198 34180198 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:34180198G>A uc002nus.3 + 3 536 c.31G>A c.(31-33)GCC>ACC p.A11T CHST8_uc002nut.3_Missense_Mutation_p.A11T|CHST8_uc002nuu.2_Missense_Mutation_p.A11T NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 11 Helical; Signal-anchor for type II membrane protein; (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) AATGCGGCTGGCCTGCATGTT 0.652 NA 24 77 0 0 0.00278 0 0 NPHS1 4868 broad.mit.edu 37 19 36321981 36321981 + Missense_Mutation SNP G G A rs143145248 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:36321981G>A uc002oby.2 - 27 3455 c.3455C>T c.(3454-3456)ACG>ATG p.T1152M NPHS1_uc010eem.1_RNA NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1152 Cytoplasmic (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCCTCCTGCGTCGGGGGCAG 0.587 NA 47 87 0 0 0.00361 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644259 37644259 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:37644259A>G uc002ofo.1 - 5 773 c.542T>C c.(541-543)ATG>ACG p.M181T ZNF585A_uc002ofm.1_Missense_Mutation_p.M126T|ZNF585A_uc002ofn.1_Missense_Mutation_p.M126T NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCTCTCTCATATGGGTTTT 0.393 NA 20 108 0 0 0.010504 0 0 RYR1 6261 broad.mit.edu 37 19 38948812 38948812 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:38948812G>A uc002oit.2 + 18 2177 c.2047G>A c.(2047-2049)GTG>ATG p.V683M RYR1_uc002oiu.2_Missense_Mutation_p.V683M NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 683 Cytoplasmic.|B30.2/SPRY 1. 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) CCACTTGCGGGTGGGCTGGGC 0.647 NA 29 59 0 0 0.008361 0 0 TGFB1 7040 broad.mit.edu 37 19 41847918 41847918 + Nonsense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:41847918G>A uc002oqh.1 - 5 1597 c.730C>T c.(730-732)CGA>TGA p.R244* CYP2F1_uc010xvw.1_Intron NM_000660 NP_000651 P01137 TGFB1_HUMAN transforming growth factor, beta 1 precursor 244 Cell attachment site (Potential). active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding 0 Hyaluronidase(DB00070) AGGTCACCTCGGCGGCCGGTA 0.617 NA 7 28 0 0 0.00308 0 0 ATP1A3 478 broad.mit.edu 37 19 42471895 42471895 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:42471895C>A uc002osg.2 - 21 2994 c.2840G>T c.(2839-2841)GGG>GTG p.G947V ATP1A3_uc010xwf.1_Missense_Mutation_p.G958V|ATP1A3_uc010xwg.1_Missense_Mutation_p.G917V|ATP1A3_uc010xwh.1_Missense_Mutation_p.G960V|ATP1A3_uc002osh.2_Missense_Mutation_p.G947V NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 947 Helical; (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 CTCAAACAGCCCGAAGATCAG 0.667 NA 17 27 1.45105e-14 2.18819e-14 0.006122 1 0 PSG11 5680 broad.mit.edu 37 19 43523194 43523194 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:43523194G>A uc002ovm.1 - 3 544 c.437C>T c.(436-438)ACT>ATT p.T146I PSG11_uc002ouw.2_Missense_Mutation_p.T152I|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.T152I|PSG11_uc002ovn.1_Missense_Mutation_p.T152I|PSG11_uc002ovo.1_Missense_Mutation_p.T24I|PSG11_uc002ovp.1_Missense_Mutation_p.T24I NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 146 female pregnancy extracellular region 0 Prostate(69;0.00682) GGGCTTGGGAGTCTCCACTGT 0.507 NA 81 185 0 0 0.00361 0 0 PRR12 57479 broad.mit.edu 37 19 50098435 50098435 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:50098435C>T uc002poo.3 + 4 843 c.843C>T c.(841-843)GCC>GCT p.A281A NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTGAGCGGGCCCTGCCACGCC 0.701 NA 8 10 0 0 0.006214 0 0 PRR12 57479 broad.mit.edu 37 19 50099244 50099244 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:50099244G>T uc002poo.3 + 4 1652 c.1652G>T c.(1651-1653)AGC>ATC p.S551I NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TGGGGACCCAGCTCCCTGGGA 0.711 NA 7 44 0.00621372 0.00651619 0.006214 1 0 NLRP12 91662 broad.mit.edu 37 19 54313064 54313064 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:54313064A>G uc002qch.3 - 3 2069 c.1849T>C c.(1849-1851)TTG>CTG p.L617L NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.L617L|NLRP12_uc002qcj.3_Silent_p.L617L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.L617L NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 617 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) ATCTCGTACAAGCAGCTGAAG 0.567 NA 29 56 0 0 0.002836 0 0 FCAR 2204 broad.mit.edu 37 19 55401191 55401191 + Missense_Mutation SNP G G A rs149025092 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:55401191G>A uc002qhr.1 + 5 1023 c.826G>A c.(826-828)GGA>AGA p.G276R FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.G227R|FCAR_uc010esi.1_Missense_Mutation_p.G153R|FCAR_uc002qhu.1_Missense_Mutation_p.G180R|FCAR_uc002qhv.1_Missense_Mutation_p.G254R|FCAR_uc002qhw.1_Missense_Mutation_p.G264R|FCAR_uc002qhx.1_Missense_Mutation_p.G168R|FCAR_uc002qhy.1_Missense_Mutation_p.G242R|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Missense_Mutation_p.G167R NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 276 Cytoplasmic (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) GTGTCAGCCAGGATTGACCTT 0.537 NA 30 118 0 0 0.007291 0 0 ZIM3 114026 broad.mit.edu 37 19 57648337 57648337 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:57648337G>T uc002qnz.1 - 4 531 c.145C>A c.(145-147)CAA>AAA p.Q49K NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTTCCCCTTGTCCTGTGATG 0.348 NA 27 67 2.4375e-19 3.91871e-19 0.007291 1 0 ZNF324B 388569 broad.mit.edu 37 19 58966598 58966598 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:58966598G>C uc002qsv.1 + 4 394 c.287G>C c.(286-288)CGA>CCA p.R96P ZNF324B_uc002qsu.1_Missense_Mutation_p.R86P|ZNF324B_uc010euq.1_Missense_Mutation_p.R96P NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GAATGGCCACGAGCTTTCCCA 0.557 NA 43 86 0 0 0.00361 0 0 TRIB2 28951 broad.mit.edu 37 2 12880652 12880652 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:12880652A>G uc002rbv.3 + 3 2200 c.764A>G c.(763-765)CAT>CGT p.H255R TRIB2_uc010yjp.1_Missense_Mutation_p.H119R NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 255 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) TACCCTTTCCATGACATTGAA 0.572 NA 9 28 0 0 0.004482 0 0 APOB 338 broad.mit.edu 37 2 21224686 21224686 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:21224686C>T uc002red.2 - 29 13736 c.13608G>A c.(13606-13608)ACG>ACA p.T4536T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4536 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) TCAGTAACTCCGTGATGTATA 0.363 NA 7 127 0 0 0.001984 0 0 DNMT3A 1788 broad.mit.edu 37 2 25523106 25523106 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:25523106C>A uc002rgc.2 - 3 336 c.79G>T c.(79-81)GAG>TAG p.E27* DNMT3A_uc002rgd.2_Nonsense_Mutation_p.E27*|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Nonsense_Mutation_p.E24*|DNMT3A_uc002rgf.2_Nonsense_Mutation_p.E27* NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 27 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTGCTCCTCTCCGTCCTGC 0.682 NA Mis|F|N|S AML 5 19 0.00116845 0.00125679 0.001168 1 0 GTF3C2 2976 broad.mit.edu 37 2 27550111 27550111 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:27550111C>A uc002rjv.1 - 19 2813 c.2450G>T c.(2449-2451)CGC>CTC p.R817L MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Missense_Mutation_p.R272L|GTF3C2_uc002rju.1_Missense_Mutation_p.R828L|GTF3C2_uc002rjw.1_Missense_Mutation_p.R817L NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 817 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCTGCATGCGCAGCATTGG 0.498 NA 5 39 1.23904e-05 1.46662e-05 0.000602 1 0 C2orf71 388939 broad.mit.edu 37 2 29294243 29294243 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:29294243T>A uc002rmt.1 - 1 2885 c.2885A>T c.(2884-2886)CAC>CTC p.H962L NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 962 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 AGGGCCGGAGTGGTGCCAGGC 0.647 NA 4 57 0 0 0.009096 0 0 ALK 238 broad.mit.edu 37 2 29449807 29449807 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:29449807C>A uc002rmy.2 - 18 3955 c.3048G>T c.(3046-3048)GAG>GAT p.E1016D NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1016 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGACGCCATCCTCAGCCAGCA 0.557 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 50 108 3.50607e-19 5.62463e-19 0.00361 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530395 80530395 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:80530395A>C uc002sok.1 - 2 820 c.550T>G c.(550-552)TGC>GGC p.C184G 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 1 184 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 AGGCTGCGGCAGTCCTGGAAG 0.612 NA HNSCC(69;0.2) 10 60 0 0 0.008291 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86088367 86088367 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:86088367T>A uc002sqq.1 - 3 384 c.255A>T c.(253-255)TTA>TTT p.L85F ST3GAL5_uc010ysy.1_Missense_Mutation_p.L85F|ST3GAL5_uc010ysz.1_Missense_Mutation_p.L85F|ST3GAL5_uc010fgq.1_5'UTR|ST3GAL5_uc002sqp.1_Missense_Mutation_p.L62F NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 85 Lumenal (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 TAGTATAATTTAACTTGAGGA 0.333 NA 30 53 0 0 0.002096 0 0 IMMT 10989 broad.mit.edu 37 2 86378436 86378436 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:86378436G>C uc002sqz.3 - 12 1773 c.1385C>G c.(1384-1386)GCT>GGT p.A462G IMMT_uc002sqy.3_Missense_Mutation_p.A203G|IMMT_uc002srb.3_Missense_Mutation_p.A451G|IMMT_uc002sra.3_Missense_Mutation_p.A461G|IMMT_uc010ytd.1_Missense_Mutation_p.A450G|IMMT_uc010yte.1_Missense_Mutation_p.A415G|IMMT_uc002src.1_Missense_Mutation_p.A198G NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 462 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 GTCCTGTTCAGCCTGTATTTC 0.378 NA 3 43 0 0 0.004672 0 0 MRPS5 64969 broad.mit.edu 37 2 95753185 95753185 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:95753185C>A uc002sub.2 - 12 1428 c.1210G>T c.(1210-1212)GTC>TTC p.V404F MRPS5_uc002suc.2_RNA NM_031902 NP_114108 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 404 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome ovary(2)|central_nervous_system(1) 3 TCCAGTTTGACGTCTGGAACC 0.567 NA 13 52 1.49906e-05 1.76884e-05 0.00245 1 0 INHBB 3625 broad.mit.edu 37 2 121107445 121107445 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:121107445G>T uc002tmn.2 + 2 1265 c.1219G>T c.(1219-1221)GCC>TCC p.A407S NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 407 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) GTGCGGCTGCGCCTGACAGTG 0.637 NA 10 25 1.76689e-08 2.32097e-08 0.006214 1 0 GLI2 2736 broad.mit.edu 37 2 121747560 121747560 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:121747560G>T uc010flp.2 + 13 4100 c.4070G>T c.(4069-4071)GGC>GTC p.G1357V GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.G1029V|GLI2_uc002tmu.3_Missense_Mutation_p.G1012V NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1357 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CCCCAAACAGGCCCGATGGGG 0.692 NA 10 10 0.000978159 0.00105815 0.000978 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125175123 125175123 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:125175123G>T uc002tno.2 + 4 849 c.485G>T c.(484-486)AGT>ATT p.S162I CNTNAP5_uc010flu.2_Missense_Mutation_p.S162I NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 162 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGAATCCCAGTGGGAAGATT 0.502 NA 3 25 0.004672 0.00490625 0.004672 1 0 PLEKHB2 55041 broad.mit.edu 37 2 131883344 131883344 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:131883344G>T uc002tsg.3 + 3 616 c.56G>T c.(55-57)TGG>TTG p.W19L PLEKHB2_uc002tsh.2_Missense_Mutation_p.W19L|PLEKHB2_uc002tsj.3_Missense_Mutation_p.W19L|PLEKHB2_uc002tsf.3_Missense_Mutation_p.W19L|PLEKHB2_uc010zao.1_5'UTR|PLEKHB2_uc010zap.1_Missense_Mutation_p.W19L|PLEKHB2_uc010zaq.1_Missense_Mutation_p.W19L|PLEKHB2_uc002tsi.3_Missense_Mutation_p.W60L NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B 19 PH. membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) TTGAAGCGCTGGAAGAAGAAC 0.308 NA 16 70 7.05477e-17 1.09903e-16 0.00499 1 0 LOC401010 401010 broad.mit.edu 37 2 132201106 132201106 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:132201106G>T uc002tst.2 - 1 1362 c.896C>A c.(895-897)CCA>CAA p.P299Q NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 CATTCGCAGTGGGTAGAAGCG 0.597 NA 4 14 0.00024832 0.000277794 0.009096 1 0 YSK4 80122 broad.mit.edu 37 2 135738894 135738894 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:135738894G>A uc002tue.1 - 9 3448 c.3417C>T c.(3415-3417)TTC>TTT p.F1139F YSK4_uc002tuf.1_Silent_p.F321F|YSK4_uc010fnc.1_Silent_p.F273F|YSK4_uc010fnd.1_Silent_p.F1026F|YSK4_uc010zbg.1_Silent_p.F271F|YSK4_uc002tuh.3_Silent_p.F867F|YSK4_uc002tui.3_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1139 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CAAACTCCATGAAAATGCTCA 0.408 NA 13 154 0 0 0.001368 0 0 LRP1B 53353 broad.mit.edu 37 2 141526889 141526889 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:141526889G>A uc002tvj.1 - 35 6623 c.5651C>T c.(5650-5652)TCT>TTT p.S1884F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1884 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) TTCATGAACAGAGTACATAAG 0.388 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 19 51 0 0 0.008871 0 0 RIF1 55183 broad.mit.edu 37 2 152320091 152320091 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:152320091G>C uc002txm.2 + 30 4187 c.4057G>C c.(4057-4059)GAC>CAC p.D1353H RIF1_uc002txl.2_Missense_Mutation_p.D1353H|RIF1_uc002txn.2_Missense_Mutation_p.D1353H|RIF1_uc002txo.2_Missense_Mutation_p.D1353H|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1353 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) AATGGAGCATGACAATACAAA 0.343 NA 21 66 0 0 0.008871 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726357 168726357 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:168726357C>A uc002udz.1 + 2 1159 c.808C>A c.(808-810)CTG>ATG p.L270M NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 270 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 ATATGTGGGACTGTGTCTTCG 0.473 NA 23 67 1.55795e-14 2.34469e-14 0.001882 1 0 MAP1D 254042 broad.mit.edu 37 2 172942530 172942530 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:172942530T>A uc002uhk.2 + 7 783 c.710T>A c.(709-711)ATA>AAA p.I237K MAP1D_uc010zdw.1_Missense_Mutation_p.I119K NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN methionine aminopeptidase 1D precursor 237 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) TAAAGCCACATAACTCATCAG 0.303 NA 8 66 0 0 0.00308 0 0 CDCA7 83879 broad.mit.edu 37 2 174223566 174223566 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:174223566G>T uc002uid.1 + 2 278 c.147_splice c.e2+1 p.T49_splice CDCA7_uc002uic.1_Splice_Site_p.T49_splice|CDCA7_uc010zej.1_Splice_Site_p.T49_splice|CDCA7_uc010zek.1_Intron NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) TGCAAACACGGTAAGTGCTGC 0.403 NA 19 67 2.94398e-08 3.85376e-08 0.007413 1 0 KIAA1715 80856 broad.mit.edu 37 2 176794796 176794796 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:176794796C>G uc002ukc.1 - 13 1379 c.1186G>C c.(1186-1188)GAG>CAG p.E396Q KIAA1715_uc010zer.1_Missense_Mutation_p.E427Q|KIAA1715_uc010fqw.1_Missense_Mutation_p.E462Q|KIAA1715_uc010zes.1_Missense_Mutation_p.E398Q|KIAA1715_uc002ukd.1_Missense_Mutation_p.E273Q|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 396 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TCCTCATTCTCAGTCTCTTGT 0.438 NA 21 91 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179437771 179437771 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179437771G>T uc010zfg.1 - 275 65608 c.65384C>A c.(65383-65385)GCC>GAC p.A21795D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A15490D|TTN_uc010zfi.1_Missense_Mutation_p.A15423D|TTN_uc010zfj.1_Missense_Mutation_p.A15298D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22722 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) CTCTGGCAGGGCAATCTCAAC 0.448 NA 4 27 0.00909568 0.00944648 0.009096 1 0 TTN 7273 broad.mit.edu 37 2 179462456 179462456 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179462456C>A uc010zfg.1 - 243 49873 c.49649G>T c.(49648-49650)GGA>GTA p.G16550V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G10245V|TTN_uc010zfi.1_Missense_Mutation_p.G10178V|TTN_uc010zfj.1_Missense_Mutation_p.G10053V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17477 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) AGGAGGCTTTCCAGACACATA 0.483 NA 7 69 0.00198382 0.0021157 0.001984 1 0 TTN 7273 broad.mit.edu 37 2 179543515 179543515 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179543515G>T uc010zfg.1 - 140 30277 c.30053C>A c.(30052-30054)CCA>CAA p.P10018Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6679Q|TTN_uc010fre.1_Missense_Mutation_p.P675Q|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10945 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) AACTGGTACTGGTACTTTCTC 0.368 NA 15 71 4.14922e-12 5.95907e-12 0.004007 1 0 TTN 7273 broad.mit.edu 37 2 179599525 179599525 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179599525C>T uc010zfg.1 - 48 11618 c.11394G>A c.(11392-11394)ACG>ACA p.T3798T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T459T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4725 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) CTTTTACATCCGTAATATCAA 0.373 NA 12 102 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179639156 179639156 + Missense_Mutation SNP G G T rs143679901 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179639156G>T uc010zfg.1 - 30 7059 c.6835C>A c.(6835-6837)CCA>ACA p.P2279T TTN_uc010zfh.1_Missense_Mutation_p.P2233T|TTN_uc010zfi.1_Missense_Mutation_p.P2233T|TTN_uc010zfj.1_Missense_Mutation_p.P2233T|TTN_uc002unb.2_Missense_Mutation_p.P2279T|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2279 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) TATGATTCTGGAACTTCTATG 0.348 NA 7 67 8.12818e-05 9.28583e-05 0.001984 1 0 TTN 7273 broad.mit.edu 37 2 179647564 179647564 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179647564G>C uc010zfg.1 - 18 3293 c.3069C>G c.(3067-3069)ACC>ACG p.T1023T TTN_uc010zfh.1_Silent_p.T977T|TTN_uc010zfi.1_Silent_p.T977T|TTN_uc010zfj.1_Silent_p.T977T|TTN_uc002unb.2_Silent_p.T1023T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1023 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) ATGTGCTGACGGTTCCAGCCT 0.498 NA 8 52 0 0 0.00308 0 0 FAM171B 165215 broad.mit.edu 37 2 187558970 187558970 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:187558970C>G uc002ups.2 + 1 182 c.70C>G c.(70-72)CGG>GGG p.R24G FAM171B_uc002upr.1_Missense_Mutation_p.R24G NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 24 integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 GCTGAAAGCGCGGCTGGTCCC 0.557 NA 4 18 0 0 0.009096 0 0 DNAH7 56171 broad.mit.edu 37 2 196723505 196723505 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:196723505C>A uc002utj.3 - 43 7861 c.7760G>T c.(7759-7761)AGA>ATA p.R2587I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2587 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CACTTCATATCTCTTTTTCAT 0.373 NA 24 103 6.36457e-07 7.90591e-07 0.003954 1 0 PLCL1 5334 broad.mit.edu 37 2 198966032 198966032 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:198966032C>A uc010fsp.2 + 4 3234 c.2943C>A c.(2941-2943)CTC>CTA p.L981L PLCL1_uc002uuv.3_Silent_p.L902L NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 981 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GCCGGTTTCTCATAGAAATGG 0.333 NA 19 108 2.37509e-13 3.50454e-13 0.010504 1 0 SGOL2 151246 broad.mit.edu 37 2 201436296 201436296 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:201436296G>A uc002uvw.2 + 7 1340 c.1227G>A c.(1225-1227)AAG>AAA p.K409K SGOL2_uc010zhd.1_Silent_p.K409K|SGOL2_uc010zhe.1_Silent_p.K409K NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 409 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 CTGAAAAAAAGAGAGAAAGAT 0.328 NA 6 59 0 0 0.00308 0 0 FZD7 8324 broad.mit.edu 37 2 202900716 202900716 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:202900716G>T uc002uyw.1 + 1 1407 c.1346G>T c.(1345-1347)CGT>CTT p.R449L NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 449 Cytoplasmic (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 TCCCTCTTCCGTATCCGCACC 0.612 NA OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 95 0.000219431 0.000247311 0.00245 1 0 NRP2 8828 broad.mit.edu 37 2 206617582 206617582 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:206617582G>A uc002vaw.2 + 12 2718 c.1927G>A c.(1927-1929)GGA>AGA p.G643R NRP2_uc002vau.2_Missense_Mutation_p.G643R|NRP2_uc002vav.2_Missense_Mutation_p.G643R|NRP2_uc002vax.2_Missense_Mutation_p.G643R|NRP2_uc002vay.2_Missense_Mutation_p.G643R NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 643 Extracellular (Potential).|MAM. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 GCTCCCTTCGGGATTCAATTG 0.488 NA 11 36 0 0 0.008291 0 0 CPO 130749 broad.mit.edu 37 2 207827201 207827201 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:207827201G>T uc002vby.2 + 7 686 c.640G>T c.(640-642)GAG>TAG p.E214* NM_173077 NP_775100 Q8IVL8 CBPO_HUMAN carboxypeptidase O precursor 214 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|ovary(1) 2 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) GTCTGAACCAGAGACTAAAGC 0.453 NA 38 111 9.73076e-26 1.64138e-25 0.006999 1 0 PLEKHM3 389072 broad.mit.edu 37 2 208841503 208841503 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:208841503G>C uc002vcl.2 - 3 1908 c.1418C>G c.(1417-1419)CCC>CGC p.P473R PLEKHM3_uc002vcm.2_Missense_Mutation_p.P473R NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 473 intracellular signal transduction metal ion binding ovary(1) 1 TTGATCCTTGGGTTTGTTCCT 0.502 NA 7 43 0 0 0.001984 0 0 MAP2 4133 broad.mit.edu 37 2 210558713 210558713 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:210558713G>A uc002vde.1 + 7 2067 c.1819G>A c.(1819-1821)GAT>AAT p.D607N MAP2_uc002vdc.1_Missense_Mutation_p.D607N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D603N NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 607 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGAGTCTATTGATACCATGTC 0.438 Pancreas(27;423 979 28787 29963) NA 18 67 0 0 0.006122 0 0 ERBB4 2066 broad.mit.edu 37 2 212426632 212426632 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:212426632G>T uc002veg.1 - 20 2581 c.2483C>A c.(2482-2484)GCT>GAT p.A828D ERBB4_uc002veh.1_Missense_Mutation_p.A828D|ERBB4_uc010zji.1_Missense_Mutation_p.A818D|ERBB4_uc010zjj.1_Missense_Mutation_p.A818D|ERBB4_uc010fut.1_Missense_Mutation_p.A828D NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 828 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACTTACCTTAGCTATCTGGAC 0.393 NA TSP Lung(8;0.080) 13 87 0.00136819 0.00146954 0.001368 1 0 STK36 27148 broad.mit.edu 37 2 219563383 219563383 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:219563383G>T uc002viu.2 + 26 3382 c.3116G>T c.(3115-3117)CGC>CTC p.R1039L STK36_uc002viv.2_Missense_Mutation_p.R1018L|STK36_uc002viw.2_Missense_Mutation_p.R217L|STK36_uc002vix.2_Missense_Mutation_p.R84L NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1039 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTTCTCACACGCCTGGCCCTC 0.537 NA 54 190 5.22555e-25 8.77521e-25 0.00361 1 0 WNT10A 80326 broad.mit.edu 37 2 219754997 219754997 + Missense_Mutation SNP G G T rs143424659 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:219754997G>T uc002vjd.1 + 3 1131 c.668G>T c.(667-669)CGC>CTC p.R223L NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, 223 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity lung(1)|skin(1) 2 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCGGGGAGCGCTTTTCTAAG 0.647 NA 9 31 7.48243e-07 9.21855e-07 0.006214 1 0 SCG2 7857 broad.mit.edu 37 2 224462640 224462640 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:224462640G>T uc002vnm.2 - 2 1494 c.1361C>A c.(1360-1362)CCC>CAC p.P454H NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 454 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) ATATGGATTGGGAAAATACGA 0.478 NA 22 122 1.96292e-10 2.72568e-10 0.010504 1 0 RHBDD1 84236 broad.mit.edu 37 2 227729482 227729482 + Missense_Mutation SNP A A T rs147490611 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:227729482A>T uc002voi.2 + 2 194 c.73A>T c.(73-75)AAC>TAC p.N25Y RHBDD1_uc010fxc.2_Missense_Mutation_p.N25Y NM_032276 NP_115652 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 25 Helical; (Potential). integral to membrane serine-type endopeptidase activity ovary(1) 1 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) TGTTGGGATCAACAATATTCC 0.458 NA 36 152 0 0 0.004289 0 0 CHRND 1144 broad.mit.edu 37 2 233398942 233398942 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:233398942C>T uc002vsw.2 + 11 1265 c.1261C>T c.(1261-1263)CCA>TCA p.P421S CHRND_uc010zmg.1_Missense_Mutation_p.P406S|CHRND_uc010fyc.2_Missense_Mutation_p.P294S|CHRND_uc010zmh.1_Missense_Mutation_p.P227S NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 421 Cytoplasmic (Potential). 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) AGGCCGGCCCCCAGCAAGCTC 0.602 NA 14 55 0 0 0.003163 0 0 CHRNG 1146 broad.mit.edu 37 2 233406100 233406100 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:233406100G>A uc002vsx.1 + 5 388 c.367G>A c.(367-369)GAG>AAG p.E123K CHRNG_uc010fyd.2_Missense_Mutation_p.E123K|CHRNG_uc010fye.1_Intron NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 123 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CGGTGTCTTCGAGGTGGCCCT 0.637 NA 13 123 0 0 0.003163 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545480 234545480 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:234545480T>C uc002vur.2 + 1 358 c.312T>C c.(310-312)AGT>AGC p.S104S UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.S104S NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 104 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) AGGCACAAAGTATATTTTCTC 0.378 NA 24 115 0 0 0.002299 0 0 COL6A3 1293 broad.mit.edu 37 2 238283178 238283178 + Missense_Mutation SNP C C T rs144976132 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:238283178C>T uc002vwl.2 - 8 3841 c.3556G>A c.(3556-3558)GTG>ATG p.V1186M COL6A3_uc002vwo.2_Missense_Mutation_p.V980M|COL6A3_uc010znj.1_Missense_Mutation_p.V579M|COL6A3_uc002vwq.2_Missense_Mutation_p.V980M|COL6A3_uc002vwr.2_Missense_Mutation_p.V779M NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1186 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAATGGCCACGGCAAAGTCC 0.622 NA 7 52 0 0 0.00308 0 0 RBM44 375316 broad.mit.edu 37 2 238725845 238725845 + Nonsense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:238725845C>T uc002vxi.3 + 3 418 c.286C>T c.(286-288)CAG>TAG p.Q96* NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 95 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TACTCAGTTTCAGTCAAGTGA 0.318 NA 16 47 0 0 0.003163 0 0 RBM44 375316 broad.mit.edu 37 2 238727007 238727007 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:238727007G>A uc002vxi.3 + 3 1580 c.1448G>A c.(1447-1449)AGG>AAG p.R483K NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 482 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ACAACCAGCAGGGCAACAAGT 0.388 NA 5 54 0 0 0.000602 0 0 PRR21 643905 broad.mit.edu 37 2 240982154 240982154 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:240982154G>C uc010zod.1 - 1 246 c.246C>G c.(244-246)CTC>CTG p.L82L NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN proline rich 21 82 Pro-rich. ovary(1)|skin(1) 2 TGTGGGTGAAGAGCCGTGGAT 0.612 NA 16 83 0 0 0.007413 0 0 GPR35 2859 broad.mit.edu 37 2 241569824 241569824 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:241569824G>T uc002vzs.1 + 1 1030 c.455G>T c.(454-456)TGG>TTG p.W152L GPR35_uc010fzh.1_Missense_Mutation_p.W183L|GPR35_uc010fzi.1_Missense_Mutation_p.W183L NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 152 Helical; Name=4; (Potential). integral to plasma membrane G-protein coupled receptor activity skin(2)|pancreas(1) 3 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GTGGCTCGCTGGCTCCTGGGG 0.701 NA 6 44 0.00198382 0.0021157 0.001984 1 0 RASSF2 9770 broad.mit.edu 37 20 4770300 4770300 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:4770300C>A uc002wld.2 - 7 635 c.581G>T c.(580-582)CGC>CTC p.R194L RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R194L|RASSF2_uc010gbh.2_5'Flank NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 194 Ras-associating. cell cycle|signal transduction nucleus protein binding p.R194H(1) ovary(3)|lung(2)|large_intestine(1) 6 GCTGTTGATGCGGACGTTGGT 0.547 Melanoma(158;1891 3343 50738) NA 11 58 3.07112e-06 3.69318e-06 0.000978 1 0 PROKR2 128674 broad.mit.edu 37 20 5294979 5294979 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:5294979T>G uc010zqw.1 - 1 37 c.37A>C c.(37-39)AAC>CAC p.N13H PROKR2_uc010zqx.1_Missense_Mutation_p.N13H|PROKR2_uc010zqy.1_Missense_Mutation_p.N13H|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 13 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGATTAAAGTTGGGTGTGAAA 0.512 NA HNSCC(71;0.22) 16 67 0 0 0.00499 0 0 PLCB1 23236 broad.mit.edu 37 20 8609055 8609055 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:8609055G>T uc002wnb.2 + 4 364 c.361G>T c.(361-363)GCT>TCT p.A121S PLCB1_uc010zrb.1_Missense_Mutation_p.A20S|PLCB1_uc010gbv.1_Missense_Mutation_p.A121S|PLCB1_uc002wmz.1_Missense_Mutation_p.A121S|PLCB1_uc002wna.2_Missense_Mutation_p.A121S|PLCB1_uc002wnc.1_Missense_Mutation_p.A20S NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 121 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 GAATCTCGTGGCTTTCCAAGA 0.473 NA 24 90 7.38237e-10 1.00113e-09 0.00632 1 0 C20orf7 79133 broad.mit.edu 37 20 13782241 13782241 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:13782241G>T uc002wom.2 + 7 662 c.629G>T c.(628-630)GGA>GTA p.G210V C20orf7_uc002wol.1_3'UTR|C20orf7_uc002won.2_Missense_Mutation_p.G182V|C20orf7_uc002woo.2_RNA NM_024120 NP_077025 Q5TEU4 CT007_HUMAN hypothetical protein LOC79133 isoform 1 210 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity 0 Myeloproliferative disorder(85;0.00878) GAAAGGGAAGGAGGATTTTCT 0.448 NA 18 50 3.41278e-10 4.68714e-10 0.00499 1 0 CST2 1470 broad.mit.edu 37 20 23805878 23805878 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:23805878C>T uc002wtq.1 - 2 326 c.311G>A c.(310-312)TGT>TAT p.C104Y NM_001322 NP_001313 P09228 CYTT_HUMAN cystatin SA precursor 104 extracellular region cysteine-type endopeptidase inhibitor activity 0 ATGGAAGGCACAGGTGTCCAA 0.547 Pancreas(193;496 3017 22514 29918) NA 15 216 0 0 0.004007 0 0 C20orf118 140711 broad.mit.edu 37 20 35515916 35515916 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:35515916T>C uc002xgg.1 + 5 505 c.497T>C c.(496-498)ATG>ACG p.M166T NM_080628 NP_542195 A0PJX2 CT118_HUMAN hypothetical protein LOC140711 166 TLD. 0 Myeloproliferative disorder(115;0.00874) GATTCACTGATGATGGGCAGT 0.542 NA OREG0025911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 111 0 0 0.001984 0 0 TOX2 84969 broad.mit.edu 37 20 42635233 42635233 + Missense_Mutation SNP C C A rs34581744 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:42635233C>A uc002xlf.3 + 3 256 c.239C>A c.(238-240)CCG>CAG p.P80Q TOX2_uc010ggo.2_Missense_Mutation_p.P71Q|TOX2_uc002xle.3_Missense_Mutation_p.P29Q|TOX2_uc010ggp.2_Missense_Mutation_p.P29Q|TOX2_uc002xlg.2_Missense_Mutation_p.P29Q NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 80 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GAGATCCCCCCGATAACACCT 0.587 NA 22 110 1.28384e-07 1.6407e-07 0.001882 1 0 C20orf111 51526 broad.mit.edu 37 20 42825709 42825709 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:42825709C>G uc002xlk.2 - 4 999 c.862G>C c.(862-864)GAA>CAA p.E288Q NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 288 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) TACATCATTTCTGCCATGTGG 0.418 NA 27 87 0 0 0.007291 0 0 R3HDML 140902 broad.mit.edu 37 20 42972100 42972100 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:42972100C>A uc002xls.1 + 3 636 c.464C>A c.(463-465)CCA>CAA p.P155Q NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 155 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GACTGTAACCCACACTGCCCC 0.622 NA 17 56 4.63292e-17 7.27755e-17 0.008871 1 0 HNF4A 3172 broad.mit.edu 37 20 43034773 43034773 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:43034773G>T uc002xma.2 + 2 280 c.191G>T c.(190-192)GGG>GTG p.G64V HNF4A_uc010zwo.1_Missense_Mutation_p.G55W|HNF4A_uc002xlt.2_Missense_Mutation_p.G42V|HNF4A_uc002xlu.2_Missense_Mutation_p.G42V|HNF4A_uc002xlv.2_Missense_Mutation_p.G42V|HNF4A_uc002xly.2_Missense_Mutation_p.G64V|HNF4A_uc002xlz.2_Missense_Mutation_p.G64V|HNF4A_uc010ggq.2_Missense_Mutation_p.G57V NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 64 Nuclear receptor.|NR C4-type. blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCATCTGCGGGGACCGGGCC 0.642 Colon(79;2 1269 8820 14841 52347) NA 31 109 1.75199e-13 2.59019e-13 0.007291 1 0 MATN4 8785 broad.mit.edu 37 20 43926606 43926606 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:43926606C>G uc002xnn.2 - 8 1718 c.1531G>C c.(1531-1533)GGC>CGC p.G511R MATN4_uc002xno.2_Missense_Mutation_p.G470R|MATN4_uc002xnp.2_Missense_Mutation_p.G429R|MATN4_uc010zwr.1_Missense_Mutation_p.G459R|MATN4_uc002xnr.1_Missense_Mutation_p.G511R NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 552 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) GTCATGGTGCCGAAGTCCGGG 0.652 NA 12 37 0 0 0.00245 0 0 ZNF334 55713 broad.mit.edu 37 20 45129982 45129982 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:45129982G>A uc002xsc.2 - 5 2180 c.1996C>T c.(1996-1998)CGC>TGC p.R666C ZNF334_uc002xsa.2_Missense_Mutation_p.R689C|ZNF334_uc002xsb.2_Missense_Mutation_p.R628C|ZNF334_uc002xsd.2_Missense_Mutation_p.R628C|ZNF334_uc010ghl.2_Missense_Mutation_p.R665C NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 666 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) GATTTGTGGCGAAATGTTTTC 0.358 NA 21 99 0 0 0.002299 0 0 SULF2 55959 broad.mit.edu 37 20 46313316 46313316 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:46313316G>T uc002xto.2 - 6 1077 c.747C>A c.(745-747)AGC>AGA p.S249R SULF2_uc002xtr.2_Missense_Mutation_p.S249R|SULF2_uc002xtq.2_Missense_Mutation_p.S249R NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 249 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CGTAGTTGTAGCTCGGCGTGC 0.632 NA 18 33 1.01871e-10 1.42771e-10 0.008871 1 0 PREX1 57580 broad.mit.edu 37 20 47246139 47246139 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:47246139G>A uc002xtw.1 - 37 4637 c.4614C>T c.(4612-4614)GCC>GCT p.A1538A PREX1_uc002xtv.1_Silent_p.A835A NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1538 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCTCATCCAGGGCATTGATGG 0.642 NA 8 72 0 0 0.00308 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47587797 47587797 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:47587797G>T uc002xtx.3 + 10 1483 c.1331G>T c.(1330-1332)GGC>GTC p.G444V NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 444 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCCAAAAACGGCGTCTCTTCA 0.438 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 12 130 0.00185496 0.00198953 0.001855 1 0 CASS4 57091 broad.mit.edu 37 20 55027161 55027161 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:55027161C>T uc002xxp.2 + 6 1154 c.929C>T c.(928-930)CCT>CTT p.P310L CASS4_uc002xxq.3_Missense_Mutation_p.P310L|CASS4_uc002xxr.2_Missense_Mutation_p.P310L|CASS4_uc010zze.1_Missense_Mutation_p.P256L|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 310 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CCAGAAATTCCTTCTTATGGC 0.463 NA 25 53 0 0 0.004656 0 0 ATP5E 514 broad.mit.edu 37 20 57605379 57605379 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:57605379C>T uc002yal.2 - 2 254 c.138G>A c.(136-138)GTG>GTA p.V46V NM_001001977 NP_001001977 P56381 ATP5E_HUMAN ATP synthase, H+ transporting, mitochondrial F1 46 respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 all_lung(29;0.00711) Colorectal(105;0.109) TCTTTACTTTCACAATTTTTA 0.348 NA 8 55 0 0 0.00308 0 0 EDN3 1908 broad.mit.edu 37 20 57876558 57876558 + Missense_Mutation SNP C C A rs148646322 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:57876558C>A uc002yap.2 + 2 515 c.146C>A c.(145-147)ACT>AAT p.T49N EDN3_uc002yao.1_Missense_Mutation_p.T49N|EDN3_uc002yaq.2_Missense_Mutation_p.T49N|EDN3_uc002yar.2_Missense_Mutation_p.T49N|EDN3_uc002yas.2_Missense_Mutation_p.T49N NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 49 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) TGTGAAGAGACTGTGGCTGGC 0.682 NA 8 40 1.58986e-06 1.92726e-06 0.008291 1 0 CDH26 60437 broad.mit.edu 37 20 58560058 58560058 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:58560058C>T uc002ybe.2 + 7 1011 c.711C>T c.(709-711)ACC>ACT p.T237T CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 237 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CCACATAGACCGCTCCTCAGT 0.433 NA 8 40 0 0 0.006214 0 0 BIRC7 79444 broad.mit.edu 37 20 61867617 61867617 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:61867617G>T uc002yej.2 + 1 342 c.169G>T c.(169-171)GGC>TGC p.G57C BIRC7_uc010gkc.1_Missense_Mutation_p.G57C|BIRC7_uc002yei.2_Missense_Mutation_p.G57C|hsa-mir-3196|MI0014241_5'Flank NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 57 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) GCAGATCCTGGGCCAGCTGCG 0.701 NA 5 18 0.00116845 0.00125679 0.001168 1 0 TPTE 7179 broad.mit.edu 37 21 10970061 10970061 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr21:10970061G>T uc002yip.1 - 6 435 c.67C>A c.(67-69)CCA>ACA p.P23T TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P23T|TPTE_uc002yir.1_Missense_Mutation_p.P23T|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 23 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTGTCTGTGGACTAGTGGAT 0.373 NA 19 152 5.03518e-11 7.13633e-11 0.007413 1 0 JAM2 58494 broad.mit.edu 37 21 27071170 27071170 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr21:27071170G>A uc002ylp.1 + 5 1121 c.576G>A c.(574-576)ATG>ATA p.M192I JAM2_uc011ace.1_Missense_Mutation_p.M192I|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.M156I|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.M192I|JAM2_uc010gli.1_Missense_Mutation_p.M192I NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 192 Extracellular (Potential).|Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 CATACACAATGAATACAAAAA 0.378 NA 18 81 0 0 0.010504 0 0 DSCAM 1826 broad.mit.edu 37 21 41561050 41561050 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr21:41561050C>A uc002yyq.1 - 12 2924 c.2472G>T c.(2470-2472)GAG>GAT p.E824D DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 824 Ig-like C2-type 9.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGATTCGGTCCTCCTTCTCCC 0.517 Melanoma(134;970 1778 1785 21664 32388) NA 38 93 1.67305e-13 2.47835e-13 0.00623 1 0 SLC5A4 6527 broad.mit.edu 37 22 32614704 32614704 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr22:32614704C>A uc003ami.2 - 15 1779 c.1777G>T c.(1777-1779)GAG>TAG p.E593* NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 593 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CGTGATTTCTCAGGATAATCT 0.418 NA 28 42 2.79863e-10 3.86478e-10 0.004656 1 0 FAM19A5 25817 broad.mit.edu 37 22 49042449 49042449 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr22:49042449C>A uc003bim.3 + 2 270 c.153C>A c.(151-153)GAC>GAA p.D51E FAM19A5_uc003bio.3_Missense_Mutation_p.D44E NM_001082967 NP_001076436 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine 51 extracellular region|integral to membrane large_intestine(1) 1 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) TGACCTTGGACCGGGACAGCA 0.657 NA 6 33 0.00116845 0.00125679 0.001168 1 0 ADM2 79924 broad.mit.edu 37 22 50921163 50921163 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr22:50921163G>A uc003blj.2 + 2 543 c.278G>A c.(277-279)CGA>CAA p.R93Q ADM2_uc011ary.1_Missense_Mutation_p.R93Q NM_024866 NP_079142 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 precursor 93 positive regulation of angiogenesis extracellular region hormone activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) TCGGGCCCCCGAAGACACTCG 0.692 NA 6 12 0 0 0.001984 0 0 CHL1 10752 broad.mit.edu 37 3 402006 402006 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:402006T>A uc003bou.2 + 11 1428 c.1157T>A c.(1156-1158)ATC>AAC p.I386N CHL1_uc003bot.2_Missense_Mutation_p.I402N|CHL1_uc003bow.1_Missense_Mutation_p.I386N|CHL1_uc011asi.1_Missense_Mutation_p.I402N NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 386 Ig-like C2-type 4.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CCCAGGGAAATCAGTTTTACC 0.388 NA 16 81 0 0 0.004007 0 0 CNTN4 152330 broad.mit.edu 37 3 2778005 2778005 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:2778005A>G uc003bpc.2 + 4 383 c.162A>G c.(160-162)GGA>GGG p.G54G CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.G54G NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 54 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAGTTAAAGGAAATCCAAAAC 0.353 NA 9 84 0 0 0.004482 0 0 SYN2 6854 broad.mit.edu 37 3 12211287 12211287 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:12211287G>A uc003bwm.2 + 14 1353 c.1189G>A c.(1189-1191)GAA>AAA p.E397K SYN2_uc003bwl.1_Missense_Mutation_p.E397K|SYN2_uc003bwn.2_Missense_Mutation_p.E71K NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 397 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 ACTGATTGGGGAACATCAGGT 0.532 NA 3 35 0 0 0.009096 0 0 C3orf20 84077 broad.mit.edu 37 3 14769948 14769948 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:14769948C>T uc003byy.2 + 12 2097 c.1693C>T c.(1693-1695)CTG>TTG p.L565L C3orf20_uc003byz.2_Silent_p.L443L|C3orf20_uc003bza.2_Silent_p.L443L|C3orf20_uc003bzb.1_Silent_p.L66L NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 565 cytoplasm|integral to membrane ovary(3)|skin(1) 4 GTTAACAGGTCTGTTTACCAT 0.493 NA 13 48 0 0 0.00245 0 0 TMEM89 440955 broad.mit.edu 37 3 48658349 48658349 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:48658349T>A uc011bbo.1 - 2 406 c.406A>T c.(406-408)ATC>TTC p.I136F NM_001008269 NP_001008270 A2RUT3 TMM89_HUMAN transmembrane protein 89 precursor 136 Cytoplasmic (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TGGCCTTCGATGTGGACCAGG 0.607 NA 36 82 0 0 0.003755 0 0 PDZRN3 23024 broad.mit.edu 37 3 73434883 73434883 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:73434883G>T uc003dpl.1 - 9 1668 c.1572C>A c.(1570-1572)CAC>CAA p.H524Q PDZRN3_uc011bgh.1_Missense_Mutation_p.H181Q|PDZRN3_uc010hoe.1_Missense_Mutation_p.H222Q|PDZRN3_uc011bgf.1_Missense_Mutation_p.H241Q|PDZRN3_uc011bgg.1_Missense_Mutation_p.H244Q NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 524 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCATGTCCATGTGCAGGTCAT 0.562 NA 21 67 7.88262e-20 1.28647e-19 0.00333 1 0 CCDC52 152185 broad.mit.edu 37 3 113187949 113187949 + Silent SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:113187949T>G uc003eag.3 - 8 1039 c.748A>C c.(748-750)AGA>CGA p.R250R CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.R146R NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 250 cell division|mitosis centriole|spindle protein binding 0 AACAAACCTCTTTGCTCCCCT 0.388 NA 20 52 0 0 0.008871 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125876333 125876333 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:125876333A>G uc003eim.1 - 4 571 c.381T>C c.(379-381)GAT>GAC p.D127D ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.D153D|ALDH1L1_uc003eip.1_Silent_p.D36D|ALDH1L1_uc011bkj.1_5'UTR NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 127 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) CCCCTTTCTTATCTCCGTGAA 0.587 NA 6 75 0 0 0.001168 0 0 EPHB1 2047 broad.mit.edu 37 3 134825299 134825299 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:134825299C>A uc003eqt.2 + 4 1035 c.815C>A c.(814-816)GCA>GAA p.A272E EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.Q161K|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 272 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GCTTGCCCTGCAGGGACATTC 0.557 NA 15 32 1.5739e-10 2.19763e-10 0.004007 1 0 PCCB 5096 broad.mit.edu 37 3 135969287 135969287 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:135969287G>A uc003eqy.1 + 1 121 c.70G>A c.(70-72)GCG>ACG p.A24T PCCB_uc003eqz.1_Missense_Mutation_p.A24T|PCCB_uc011bmc.1_Missense_Mutation_p.A24T NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 24 fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) TCTCCGCGCCGCGGTCCGCAG 0.692 NA OREG0015823 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 8 0 0 0.004672 0 0 C3orf72 401089 broad.mit.edu 37 3 138668464 138668464 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:138668464C>G uc003esx.1 + 2 334 c.203C>G c.(202-204)TCG>TGG p.S68W FOXL2_uc003esw.2_5'Flank|C3orf72_uc011bmr.1_5'UTR NM_001040061 NP_001035150 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 68 0 GTCCGGCATTCGAAGGCTCAG 0.577 NA 39 39 0 0 0.00623 0 0 ZIC1 7545 broad.mit.edu 37 3 147128840 147128840 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:147128840C>T uc003ewe.2 + 1 1660 c.941C>T c.(940-942)GCG>GTG p.A314V NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 314 C2H2-type 3. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AAGGTCTTCGCGCGCTCCGAG 0.562 NA 31 44 0 0 0.009535 0 0 IGSF10 285313 broad.mit.edu 37 3 151155508 151155508 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:151155508G>A uc011bod.1 - 6 6841 c.6841C>T c.(6841-6843)CTC>TTC p.L2281F IGSF10_uc011bob.1_Missense_Mutation_p.L308F|IGSF10_uc011boc.1_Missense_Mutation_p.L260F NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2281 Ig-like C2-type 9. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGGGCTGTGAGGAAAATATTG 0.433 NA 54 64 0 0 0.00361 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571625 155571625 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:155571625C>A uc003fan.3 - 1 543 c.162G>T c.(160-162)GGG>GGT p.G54G SLC33A1_uc003fao.1_Silent_p.G54G NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 54 Cytoplasmic (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCCGGTATCCCCCAGAAGAG 0.557 NA 23 49 2.52088e-20 4.13205e-20 0.00278 1 0 SHOX2 6474 broad.mit.edu 37 3 157823778 157823778 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:157823778A>G uc003fbr.2 - 1 175 c.36T>C c.(34-36)TTT>TTC p.F12F SHOX2_uc003fbs.2_Silent_p.F12F|SHOX2_uc010hvw.2_Silent_p.F12F NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 12 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CTTTCTGGTCAAAAGACTTGG 0.627 NA 14 54 0 0 0.004007 0 0 BCHE 590 broad.mit.edu 37 3 165503972 165503972 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:165503972A>G uc003fem.3 - 3 1805 c.1645T>C c.(1645-1647)TTC>CTC p.F549L BCHE_uc003fen.3_RNA NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 549 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GATGTCCAGAATCGACATTGT 0.358 NA 11 44 0 0 0.001368 0 0 NLGN1 22871 broad.mit.edu 37 3 173998697 173998697 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:173998697G>C uc003fio.1 + 7 2499 c.2076G>C c.(2074-2076)TTG>TTC p.L692F NLGN1_uc003fip.1_Missense_Mutation_p.L692F NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 709 Helical; (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGAACATCTTGGCCTTTGCAG 0.463 NA 47 55 0 0 0.00361 0 0 FXR1 8087 broad.mit.edu 37 3 180675674 180675675 + Nonsense_Mutation DNP GA GA TT TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:180675674_180675675GA>TT uc003fkq.2 + 10 970_971 c.948_949GA>TT c.(946-951)GTGAGA>GTTTGA p.R317* FXR1_uc003fkp.2_Nonsense_Mutation_p.R232*|FXR1_uc003fkr.2_Nonsense_Mutation_p.R317*|FXR1_uc011bqj.1_Nonsense_Mutation_p.R231*|FXR1_uc003fks.2_Nonsense_Mutation_p.R231*|FXR1_uc011bqk.1_Nonsense_Mutation_p.R268*|FXR1_uc011bql.1_Nonsense_Mutation_p.R304* NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 317 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TGGTTCGAGTGAGAATTGAAGG 0.322 NA 42 56 0 0 0.004672 0 0 MASP1 5648 broad.mit.edu 37 3 186943140 186943140 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:186943140G>A uc003frh.1 - 13 2045 c.1713C>T c.(1711-1713)ATC>ATT p.I571I NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 571 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CAGGCAGACAGATGGGCATCA 0.582 NA 63 66 0 0 0.00361 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:195505836G>C uc011bto.1 - 3 12691 c.12231C>G c.(12229-12231)CAC>CAG p.H4077Q MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597 NA 2 5 0 0 0.004672 0 0 CPZ 8532 broad.mit.edu 37 4 8605802 8605802 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:8605802G>T uc003glm.2 + 4 722 c.596G>T c.(595-597)CGG>CTG p.R199L CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R62L|CPZ_uc003glo.2_Missense_Mutation_p.R188L|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 199 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GTGCTGAGGCGGACGGCCTCC 0.701 NA 3 10 0.004672 0.00490625 0.004672 1 0 ZNF518B 85460 broad.mit.edu 37 4 10446863 10446863 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:10446863A>G uc003gmn.2 - 3 1577 c.1090T>C c.(1090-1092)TTT>CTT p.F364L NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 TCCAGCGGAAACAGTTTCAGA 0.423 NA 45 148 0 0 0.00361 0 0 LAP3 51056 broad.mit.edu 37 4 17585192 17585192 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:17585192G>T uc003gph.1 + 5 628 c.466G>T c.(466-468)GTG>TTG p.V156L LAP3_uc010ieg.2_Silent_p.R120R NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 156 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 GGAGGGAGCGGTGCTTGGTCT 0.527 NA 26 76 3.28513e-13 4.80968e-13 0.003954 1 0 GBA3 57733 broad.mit.edu 37 4 22748966 22748966 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:22748966G>T uc003gqp.3 + 3 425 c.334G>T c.(334-336)GTT>TTT p.V112F GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.V113F NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 112 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 AAAAAATGGGGTTACTCCCAT 0.368 NA 11 136 1.58986e-06 1.92726e-06 0.008291 1 0 FRYL 285527 broad.mit.edu 37 4 48536592 48536592 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:48536592C>G uc003gyh.1 - 49 7280 c.6675G>C c.(6673-6675)GAG>GAC p.E2225D FRYL_uc003gyg.1_Missense_Mutation_p.E921D|FRYL_uc003gyi.1_Missense_Mutation_p.E1113D|FRYL_uc003gyj.1_Missense_Mutation_p.E520D NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2225 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TCTTTATGATCTCCAGATTAA 0.254 NA 3 35 0 0 0.009096 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181839 57181839 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:57181839C>T uc003hbk.2 + 8 2562 c.2171C>T c.(2170-2172)GCC>GTC p.A724V KIAA1211_uc010iha.2_Missense_Mutation_p.A717V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A634V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A610V NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 724 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) ATTATGCCTGCCTGGCAGAAA 0.557 NA 14 73 0 0 0.003163 0 0 LPHN3 23284 broad.mit.edu 37 4 62812728 62812728 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:62812728C>A uc010ihh.2 + 13 2485 c.2312C>A c.(2311-2313)ACA>AAA p.T771K LPHN3_uc003hcq.3_Missense_Mutation_p.T771K|LPHN3_uc003hct.2_Missense_Mutation_p.T164K NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 758 Extracellular (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 GCTTTGTCCACAAATCATTCT 0.403 NA 20 200 2.39187e-15 3.64338e-15 0.008871 1 0 EPHA5 2044 broad.mit.edu 37 4 66467859 66467859 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:66467859C>A uc003hcy.2 - 3 603 c.410G>T c.(409-411)TGC>TTC p.C137F EPHA5_uc003hcx.2_Missense_Mutation_p.C68F|EPHA5_uc003hcz.2_Missense_Mutation_p.C137F|EPHA5_uc011cah.1_Missense_Mutation_p.C137F|EPHA5_uc011cai.1_Missense_Mutation_p.C137F|EPHA5_uc003hda.2_Missense_Mutation_p.C137F NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 137 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AAGGCTGTTGCAGTCCCGCAG 0.428 NA TSP Lung(17;0.13) 20 83 2.98393e-07 3.77497e-07 0.00278 1 0 UGT2B11 10720 broad.mit.edu 37 4 70066400 70066400 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:70066400G>A uc003heh.2 - 6 1357 c.1348C>T c.(1348-1350)CAT>TAT p.H450Y uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 450 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 GGTTGATCATGTTGAATTCTT 0.383 NA 27 88 0 0 0.00632 0 0 CSN2 1447 broad.mit.edu 37 4 70823394 70823394 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:70823394C>A uc003hes.3 - 5 286 c.273G>T c.(271-273)CTG>CTT p.L91L CSN2_uc003het.3_Silent_p.L90L NM_001891 NP_001882 P05814 CASB_HUMAN casein beta precursor 91 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity 0 GAGGGACAGGCAGCACCACAG 0.483 NA 16 114 1.99824e-07 2.54076e-07 0.00499 1 0 ENAM 10117 broad.mit.edu 37 4 71510364 71510364 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:71510364C>G uc011caw.1 + 9 3502 c.3221C>G c.(3220-3222)TCT>TGT p.S1074C NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 1074 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) GGAACTCCATCTAGCGATGGA 0.443 NA 25 72 0 0 0.00278 0 0 SLC4A4 8671 broad.mit.edu 37 4 72432731 72432731 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:72432731A>G uc003hfy.2 + 25 3324 c.3207A>G c.(3205-3207)TCA>TCG p.S1069S SLC4A4_uc010iic.2_Missense_Mutation_p.H1037R|SLC4A4_uc010iib.2_Silent_p.S985S|SLC4A4_uc003hfz.2_Silent_p.S1069S|SLC4A4_uc003hgc.3_Silent_p.S1025S|SLC4A4_uc010iid.2_Silent_p.S273S NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 1069 Cytoplasmic (Potential). S -> P (in Ref. 3; AAF21719). 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) GAGAAAGATCACCAACATTCC 0.338 NA 11 48 0 0 0.000978 0 0 FRAS1 80144 broad.mit.edu 37 4 79300930 79300930 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:79300930A>T uc003hlb.2 + 27 3783 c.3343A>T c.(3343-3345)ATT>TTT p.I1115F FRAS1_uc003hkw.2_Missense_Mutation_p.I1115F NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1114 CSPG 1.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GATCCTCCCAATTGGTTCAAT 0.438 NA 11 45 0 0 0.000978 0 0 MMRN1 22915 broad.mit.edu 37 4 90874520 90874520 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:90874520A>C uc003hst.2 + 8 3709 c.3638A>C c.(3637-3639)AAG>ACG p.K1213T MMRN1_uc010iku.2_Missense_Mutation_p.K516T|MMRN1_uc011cds.1_Missense_Mutation_p.K955T NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 1213 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATTCCAGCCAAGTTTCCCCCT 0.363 NA 22 64 0 0 0.002299 0 0 PDHA2 5161 broad.mit.edu 37 4 96761473 96761473 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:96761473G>T uc003htr.3 + 1 235 c.172G>T c.(172-174)GAG>TAG p.E58* NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 58 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) CACTAGGGCGGAGGGGCTTAA 0.458 NA 7 49 2.0095e-06 2.43204e-06 0.001984 1 0 ADH7 131 broad.mit.edu 37 4 100348950 100348950 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:100348950C>A uc003huv.1 - 5 679 c.580G>T c.(580-582)GCT>TCT p.A194S NM_000673 NP_000664 P40394 ADH7_HUMAN class IV alcohol dehydrogenase, mu or sigma 194 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity lung(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TTAACAGCAGCGCCATATCCA 0.408 NA 6 45 1.06961e-07 1.37861e-07 0.00308 1 0 C4orf21 55345 broad.mit.edu 37 4 113524823 113524823 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:113524823C>A uc003iau.2 - 10 3044 c.2833G>T c.(2833-2835)GGA>TGA p.G945* C4orf21_uc003iaw.2_Nonsense_Mutation_p.G945* NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GTAGCTGATCCTTTTACTTGA 0.368 NA 11 58 5.16669e-11 7.30897e-11 0.000978 1 0 FAT4 79633 broad.mit.edu 37 4 126241676 126241676 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:126241676G>C uc003ifj.3 + 1 4110 c.4110G>C c.(4108-4110)GGG>GGC p.G1370G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1370 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAAACACTGGGAGTATTTTTC 0.368 NA 25 152 0 0 0.00333 0 0 PCDH10 57575 broad.mit.edu 37 4 134073223 134073223 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:134073223G>T uc003iha.2 + 1 2754 c.1928G>T c.(1927-1929)CGA>CTA p.R643L uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R643L NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 643 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) ACAGCACGCCGAGTCCCGGCC 0.667 NA 16 42 1.5739e-10 2.19763e-10 0.004007 1 0 TBC1D9 23158 broad.mit.edu 37 4 141555266 141555266 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:141555266A>C uc010ioj.2 - 16 2854 c.2582T>G c.(2581-2583)CTG>CGG p.L861R NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 861 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ATACTGTTCCAGGTAGGGCAG 0.552 NA 12 46 0 0 0.000978 0 0 PET112L 5188 broad.mit.edu 37 4 152682016 152682016 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:152682016C>G uc003iml.2 - 1 131 c.119G>C c.(118-120)AGG>ACG p.R40T PET112L_uc003imm.3_Missense_Mutation_p.R40T NM_004564 NP_004555 O75879 GATB_HUMAN PET112-like precursor 40 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding 0 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCTCTCTCCCCTAATCTGGTT 0.597 NA 13 51 0 0 0.00245 0 0 DCHS2 54798 broad.mit.edu 37 4 155250852 155250852 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:155250852G>T uc003inw.2 - 11 2376 c.2376C>A c.(2374-2376)ATC>ATA p.I792I DCHS2_uc003inx.2_Silent_p.I1247I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 792 Cadherin 6. 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) CCACCCAATTGATTAACTCTC 0.552 NA 8 49 0.000442599 0.000486472 0.006214 1 0 MAP9 79884 broad.mit.edu 37 4 156294509 156294509 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:156294509G>A uc003ios.2 - 4 524 c.260C>T c.(259-261)TCA>TTA p.S87L MAP9_uc011cin.1_Missense_Mutation_p.S87L|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.S87L|MAP9_uc010iqb.1_Missense_Mutation_p.S15L NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 87 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CAATAGTTTTGAAGGATTCTT 0.328 NA 8 38 0 0 0.00308 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156651382 156651382 + Nonstop_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:156651382A>T uc003iov.2 + 11 2608 c.2072A>T c.(2071-2073)TAG>TTG p.*691L GUCY1A3_uc003iow.2_Nonstop_Mutation_p.*691L|GUCY1A3_uc010iqd.2_Nonstop_Mutation_p.*690L|GUCY1A3_uc003iox.2_Nonstop_Mutation_p.*691L|GUCY1A3_uc003ioz.2_Nonstop_Mutation_p.*456L|GUCY1A3_uc003ioy.2_Nonstop_Mutation_p.*691L|GUCY1A3_uc010iqe.2_Nonstop_Mutation_p.*456L|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Nonstop_Mutation_p.*691L NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 691 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GGAATAGATTAGCAACCTATA 0.388 NA 7 45 0 0 0.001984 0 0 FSTL5 56884 broad.mit.edu 37 4 162459336 162459336 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:162459336C>T uc003iqh.2 - 10 1730 c.1294G>A c.(1294-1296)GAC>AAC p.D432N FSTL5_uc003iqi.2_Missense_Mutation_p.D431N|FSTL5_uc010iqv.2_Missense_Mutation_p.D431N NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 432 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTAGCAGAGTCTTCCACAAAA 0.403 NA 21 191 0 0 0.001882 0 0 NPY5R 4889 broad.mit.edu 37 4 164271597 164271597 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:164271597G>A uc003iqn.2 + 4 354 c.172G>A c.(172-174)GGG>AGG p.G58R NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 58 Helical; Name=1; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) TGGCTTTATGGGGAATCTACT 0.378 Melanoma(139;1287 1774 9781 19750 25599) NA 25 156 0 0 0.003954 0 0 C4orf41 60684 broad.mit.edu 37 4 184606247 184606247 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:184606247G>A uc003ivx.2 + 16 1754 c.1578G>A c.(1576-1578)CTG>CTA p.L526L C4orf41_uc003ivw.2_Silent_p.L526L|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Silent_p.L132L NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 526 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) CTTCAACTCTGAAAGATGACC 0.294 NA 10 40 0 0 0.001368 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455522 187455522 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:187455522C>A uc003izd.1 - 2 392 c.374G>T c.(373-375)CGC>CTC p.R125L NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 125 Cytoplasmic (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GTAGCAGTAGCGGTTGATGGC 0.567 NA 10 28 2.17888e-05 2.56299e-05 0.006214 1 0 TRIP13 9319 broad.mit.edu 37 5 917141 917141 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:917141G>C uc003jbr.2 + 13 1332 c.1222G>C c.(1222-1224)GAG>CAG p.E408Q NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 408 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CGTCACCATAGAGGGGTTCCT 0.592 NA 12 77 0 0 0.001855 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + Missense_Mutation SNP C C T rs111700178 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:1593264C>T uc010itg.1 - 2 273 c.196G>A c.(196-198)GCA>ACA p.A66T SDHAP3_uc011cme.1_RNA Homo sapiens cDNA clone IMAGE:40127561. 0 AGGGCACATGCCTGACCAAAG 0.552 NA 5 67 0 0 0.00308 0 0 C5orf38 153571 broad.mit.edu 37 5 2753469 2753469 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:2753469G>T uc003jdc.2 + 3 521 c.404G>T c.(403-405)CGC>CTC p.R135L C5orf38_uc011cmg.1_Missense_Mutation_p.R135L|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron NM_178569 NP_848664 Q86SI9 CEI_HUMAN hypothetical protein LOC153571 precursor 135 extracellular region 0 GBM - Glioblastoma multiforme(108;0.205) GCAGGCTCCCGGTAGGCGCGG 0.657 NA 11 101 0.000978159 0.00105815 0.000978 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5242206 5242206 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:5242206A>T uc003jdl.2 + 17 2702 c.2564A>T c.(2563-2565)TAC>TTC p.Y855F ADAMTS16_uc003jdk.1_Missense_Mutation_p.Y855F NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 855 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GCCTGGGAATACTCCATGCCT 0.542 NA 4 74 0 0 0.000602 0 0 ADCY2 108 broad.mit.edu 37 5 7773086 7773086 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:7773086C>T uc003jdz.1 + 18 2323 c.2256C>T c.(2254-2256)TCC>TCT p.S752S ADCY2_uc011cmo.1_Silent_p.S572S NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 752 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.S752F(1) ovary(5)|pancreas(1)|skin(1) 7 TATCCTGTTCCGTGTTCCTGC 0.493 NA 23 234 0 0 0.00333 0 0 ROPN1L 83853 broad.mit.edu 37 5 10461347 10461347 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:10461347G>T uc003jex.3 + 4 740 c.469G>T c.(469-471)GAG>TAG p.E157* NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 157 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 GGACGATCCGGAGGGCGGGCC 0.567 NA 73 90 2.51111e-31 4.3426e-31 0.00361 1 0 CTNND2 1501 broad.mit.edu 37 5 11346640 11346640 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:11346640T>C uc003jfa.1 - 9 1617 c.1472A>G c.(1471-1473)TAT>TGT p.Y491C CTNND2_uc010itt.2_Missense_Mutation_p.Y400C|CTNND2_uc011cmy.1_Missense_Mutation_p.Y154C|CTNND2_uc011cmz.1_Missense_Mutation_p.Y58C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.Y58C NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 491 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GCCGGCGGCATAGCTGGCCCT 0.657 NA 7 115 0 0 0.001984 0 0 CTNND2 1501 broad.mit.edu 37 5 11364993 11364993 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:11364993C>T uc003jfa.1 - 8 1332 c.1187G>A c.(1186-1188)CGA>CAA p.R396Q CTNND2_uc010itt.2_Missense_Mutation_p.R305Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R59Q|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 396 ARM 1. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GTATGAGGCTCGGGAACCAGC 0.488 NA 7 76 0 0 0.001984 0 0 TRIO 7204 broad.mit.edu 37 5 14481375 14481375 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:14481375G>T uc003jff.2 + 44 6375 c.6369G>T c.(6367-6369)CTG>CTT p.L2123L TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.L1772L NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2123 DH 2. 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) AGGCCAGCCTGGATACATCAG 0.468 NA 22 277 3.62473e-10 4.96016e-10 0.001882 1 0 FBXL7 23194 broad.mit.edu 37 5 15500789 15500789 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:15500789G>T uc003jfn.1 + 1 485 c.4G>T c.(4-6)GGC>TGC p.G2C NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 2 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CTACAGGATGGGCGCGAACAA 0.697 NA 27 195 1.55811e-20 2.5651e-20 0.008361 1 0 CDH12 1010 broad.mit.edu 37 5 21783467 21783467 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:21783467T>A uc010iuc.2 - 8 1851 c.1393A>T c.(1393-1395)AGT>TGT p.S465C CDH12_uc011cno.1_Missense_Mutation_p.S425C|CDH12_uc003jgk.2_Missense_Mutation_p.S465C NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 465 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CCATACTTACTAACTTTACTC 0.368 NA HNSCC(59;0.17) 14 107 0 0 0.003163 0 0 CDH9 1007 broad.mit.edu 37 5 26885753 26885753 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:26885753C>T uc003jgs.1 - 11 2021 c.1852G>A c.(1852-1854)GCG>ACG p.A618T CDH9_uc011cnv.1_Missense_Mutation_p.A211T NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 618 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AGTAGAATCGCAACGAGAGCT 0.512 Melanoma(8;187 585 15745 40864 52829) NA 5 41 0 0 0.000602 0 0 NPR3 4883 broad.mit.edu 37 5 32712470 32712470 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:32712470C>A uc003jhv.2 + 1 806 c.588C>A c.(586-588)CAC>CAA p.H196Q NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.H196Q NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 196 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) GCCACCACCACTGGAGCCGCG 0.642 NA 9 111 5.68852e-11 8.00214e-11 0.004482 1 0 PRLR 5618 broad.mit.edu 37 5 35066174 35066174 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:35066174A>C uc003jjm.2 - 10 1416 c.886T>G c.(886-888)TTG>GTG p.L296V PRLR_uc003jjg.1_Missense_Mutation_p.L296V|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.L195V NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 296 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGGCATCCCAAGGCACTCAGT 0.438 NA 6 82 0 0 0.001168 0 0 LIFR 3977 broad.mit.edu 37 5 38481840 38481840 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:38481840T>A uc010ive.1 - 20 3483 c.3151A>T c.(3151-3153)AAC>TAC p.N1051Y LIFR_uc003jli.2_Missense_Mutation_p.N1051Y NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 1051 Cytoplasmic (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) ATCTCACTGTTGCTGTCTATG 0.418 Melanoma(13;4 730 6426 9861 34751) NA T PLAG1 salivary adenoma 139 126 0 0 0.00361 0 0 RICTOR 253260 broad.mit.edu 37 5 38950710 38950710 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:38950710C>G uc003jlp.2 - 31 3264 c.3240G>C c.(3238-3240)AAG>AAC p.K1080N RICTOR_uc003jlo.2_Missense_Mutation_p.K1080N|RICTOR_uc010ivf.2_Missense_Mutation_p.K795N NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1080 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) AATTTTTATCCTTTATGGGTC 0.383 NA 22 559 0 0 0.010504 0 0 FYB 2533 broad.mit.edu 37 5 39202342 39202342 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:39202342C>T uc003jls.2 - 1 788 c.721G>A c.(721-723)GCA>ACA p.A241T FYB_uc003jlt.2_Missense_Mutation_p.A241T|FYB_uc003jlu.2_Missense_Mutation_p.A241T|FYB_uc011cpl.1_Missense_Mutation_p.A251T NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 241 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TCTTCCCTTGCTGGTTTTAAA 0.522 NA 238 84 0 0 0.00361 0 0 C9 735 broad.mit.edu 37 5 39341744 39341744 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:39341744G>T uc003jlv.3 - 3 331 c.242C>A c.(241-243)GCT>GAT p.A81D NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 81 TSP type-1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GTCTCCCACAGCGTCGGTGCA 0.448 NA 7 233 0.00198382 0.0021157 0.001984 1 0 C6 729 broad.mit.edu 37 5 41154099 41154099 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:41154099C>A uc003jmk.2 - 15 2313 c.2103G>T c.(2101-2103)CGG>CGT p.R701R C6_uc003jml.1_Silent_p.R701R NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 701 Sushi 1.|C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCACTCCGTCCCTGCAAGAG 0.393 NA 93 42 6.65942e-36 1.15963e-35 0.00361 1 0 GHR 2690 broad.mit.edu 37 5 42718570 42718570 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:42718570G>C uc003jmt.2 + 10 1004 c.961G>C c.(961-963)GAG>CAG p.E321Q GHR_uc011cpq.1_Missense_Mutation_p.E134Q NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 321 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAAATTAGAGGAGGTGAACAC 0.313 NA 54 172 0 0 0.00361 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79743953 79743953 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:79743953C>T uc003kgr.3 + 8 3135 c.2833C>T c.(2833-2835)CCA>TCA p.P945S ZFYVE16_uc003kgp.2_Missense_Mutation_p.P945S|ZFYVE16_uc003kgq.3_Missense_Mutation_p.P945S|ZFYVE16_uc003kgs.3_Missense_Mutation_p.P945S|ZFYVE16_uc003kgt.3_Intron NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 945 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TTCTCAGGTTCCATCAGTGGA 0.383 Melanoma(150;1452 1854 16018 17851 37292) NA 9 51 0 0 0.004482 0 0 DMXL1 1657 broad.mit.edu 37 5 118560423 118560423 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:118560423A>G uc003ksd.2 + 37 8415 c.8234A>G c.(8233-8235)AAT>AGT p.N2745S DMXL1_uc010jcl.1_Missense_Mutation_p.N2766S|DMXL1_uc010jcm.1_RNA NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2745 WD 11. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAAGCCATTAATAATGTTAGA 0.244 NA 10 52 0 0 0.000978 0 0 MEGF10 84466 broad.mit.edu 37 5 126792830 126792830 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:126792830G>T uc003kuh.3 + 26 3605 c.3243G>T c.(3241-3243)GTG>GTT p.V1081V MEGF10_uc003kui.3_Silent_p.V1081V NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 1081 Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AACCTACAGTGAGTGTTGTCC 0.398 NA 5 75 1.024e-07 1.32435e-07 0.000602 1 0 FBN2 2201 broad.mit.edu 37 5 127800434 127800434 + Missense_Mutation SNP C C A rs148971572 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:127800434C>A uc003kuu.2 - 6 1248 c.809G>T c.(808-810)CGC>CTC p.R270L FBN2_uc003kuv.2_Missense_Mutation_p.R237L|FBN2_uc003kuw.3_Missense_Mutation_p.R270L|FBN2_uc003kux.1_Missense_Mutation_p.R270L NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 270 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGCTCCAGTGCGGATGTTGGG 0.592 NA 9 57 7.48243e-07 9.21855e-07 0.006214 1 0 TIFAB 497189 broad.mit.edu 37 5 134785511 134785511 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:134785511C>T uc003law.3 - 2 320 c.119G>A c.(118-120)CGG>CAG p.R40Q C5orf20_uc003lav.2_5'Flank NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN TIFA-related protein TIFAB 40 FHA. 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCCTGCCCCCGTCCGAGAAG 0.662 NA 4 56 0 0 0.009096 0 0 BRD8 10902 broad.mit.edu 37 5 137501538 137501538 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:137501538G>C uc003lcf.1 - 11 1312 c.1257C>G c.(1255-1257)ATC>ATG p.I419M BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.I198M|BRD8_uc003lcg.2_Missense_Mutation_p.I492M|BRD8_uc003lci.2_Missense_Mutation_p.I422M|BRD8_uc003lch.2_Missense_Mutation_p.I313M|BRD8_uc011cym.1_Missense_Mutation_p.I403M|BRD8_uc010jer.1_Missense_Mutation_p.I388M|BRD8_uc011cyn.1_Missense_Mutation_p.I378M NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 419 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGATGGCAATGATGTCTCCAA 0.463 NA 5 85 0 0 0.000602 0 0 HARS2 23438 broad.mit.edu 37 5 140077256 140077256 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140077256G>T uc003lgx.2 + 11 1516 c.1300G>T c.(1300-1302)GAT>TAT p.D434Y HARS2_uc011czr.1_Missense_Mutation_p.D409Y|HARS2_uc011czs.1_Missense_Mutation_p.D290Y|HARS2_uc011czt.1_Missense_Mutation_p.D262Y|HARS2_uc011czu.1_Missense_Mutation_p.D260Y|ZMAT2_uc003lgy.1_5'Flank NM_012208 NP_036340 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2 precursor 434 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCTTTGGGATTCTGGAAT 0.473 NA 44 86 1.62263e-30 2.79329e-30 0.00361 1 0 PCDHA2 56146 broad.mit.edu 37 5 140175912 140175912 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140175912T>A uc003lhd.2 + 1 1469 c.1363T>A c.(1363-1365)TTC>ATC p.F455I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.F455I|PCDHA2_uc011czy.1_Missense_Mutation_p.F455I NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 455 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCCGGCGTTCGCACAGCC 0.652 NA 28 62 0 0 0.007291 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202127 140202127 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140202127G>T uc003lhl.2 + 1 767 c.767G>T c.(766-768)AGT>ATT p.S256I 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_Missense_Mutation_p.S256I|PCDHA5_uc003lhj.1_Missense_Mutation_p.S256I NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 256 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGCACCAAGTGGGACATTA 0.358 NA 30 58 2.42023e-17 3.81769e-17 0.003271 1 0 PCDHB6 56130 broad.mit.edu 37 5 140530172 140530172 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140530172C>A uc003lir.2 + 1 334 c.334C>A c.(334-336)CCC>ACC p.P112T PCDHB6_uc011dah.1_5'UTR NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 112 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGGAAAACCCCTTGCAGTT 0.473 NA 11 58 3.86212e-05 4.48006e-05 0.008291 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725511 140725511 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140725511G>T uc003ljm.1 + 1 1911 c.1911G>T c.(1909-1911)GCG>GCT p.A637A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A397A|PCDHGA3_uc011dap.1_Silent_p.A637A NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 637 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) ACAGAGACGCGCTCAAGCAGA 0.701 NA 23 78 3.11337e-16 4.80058e-16 0.002836 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736090 140736090 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140736090A>T uc003ljq.1 + 1 1323 c.1323A>T c.(1321-1323)CAA>CAT p.Q441H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q441H NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 441 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCACTGCAAGTGATGGACA 0.458 NA 22 73 0 0 0.002299 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899856 156899856 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:156899856C>T uc003lwx.3 + 6 1405 c.1289C>T c.(1288-1290)CCG>CTG p.P430L ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.P411L NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 430 Cytoplasmic (Potential). integral to membrane receptor activity 0 TCTCCCGCCCCGGAACCCACT 0.498 NA 12 22 0 0 0.000978 0 0 ATP10B 23120 broad.mit.edu 37 5 159992831 159992831 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:159992831G>T uc003lym.1 - 26 4862 c.4015C>A c.(4015-4017)CCA>ACA p.P1339T ATP10B_uc010jit.1_Missense_Mutation_p.P589T NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1339 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTTGTCTGGGGGGAGTTTG 0.478 NA 43 112 6.5261e-18 1.03159e-17 0.00874 1 0 GABRA6 2559 broad.mit.edu 37 5 161116110 161116110 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:161116110C>A uc003lyu.2 + 4 719 c.381C>A c.(379-381)CAC>CAA p.H127Q GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 127 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCATTGCTCACAACATGACAA 0.398 NA TCGA Ovarian(5;0.080) 12 47 6.40141e-05 7.38022e-05 0.000978 1 0 GABRG2 2566 broad.mit.edu 37 5 161524799 161524799 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:161524799C>A uc003lyz.3 + 4 841 c.483C>A c.(481-483)CAC>CAA p.H161Q GABRG2_uc010jjc.2_Missense_Mutation_p.H161Q|GABRG2_uc003lyy.3_Missense_Mutation_p.H161Q|GABRG2_uc011dej.1_Missense_Mutation_p.H66Q NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 161 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) CTGATGCACACTGGATCACCA 0.428 NA 29 80 4.22769e-11 6.00317e-11 0.00632 1 0 ODZ2 57451 broad.mit.edu 37 5 167617539 167617539 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:167617539C>A uc010jjd.2 + 14 2740 c.2740C>A c.(2740-2742)CCT>ACT p.P914T ODZ2_uc003lzr.3_Missense_Mutation_p.P691T|ODZ2_uc003lzt.3_Missense_Mutation_p.P287T|ODZ2_uc010jje.2_Missense_Mutation_p.P185T|uc003lzs.1_5'Flank NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGGAGAGAACCCTTTCAACAG 0.547 NA 7 26 0.000157383 0.000177645 0.00308 1 0 DDX41 51428 broad.mit.edu 37 5 176943349 176943349 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:176943349C>T uc003mho.2 - 3 259 c.238G>A c.(238-240)GGC>AGC p.G80S DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 80 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GACTGAGGGCCTAGCGGGATG 0.612 NA 45 67 0 0 0.002852 0 0 BPHL 670 broad.mit.edu 37 6 3127533 3127533 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:3127533C>A uc003mva.2 + 3 318 c.269C>A c.(268-270)ACG>AAG p.T90K BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Missense_Mutation_p.T73K NM_004332 NP_004323 Q86WA6 BPHL_HUMAN biphenyl hydrolase-like precursor 90 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity 0 Ovarian(93;0.0386) all_hematologic(90;0.108) AAGCTCTTCACGGTGGTCGCC 0.493 NA 8 82 0.000157383 0.000177645 0.00308 1 0 SLC17A1 6568 broad.mit.edu 37 6 25820019 25820019 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:25820019A>G uc003nfh.3 - 4 448 c.332T>C c.(331-333)ATT>ACT p.I111T SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.I109T|SLC17A1_uc010jqc.1_Missense_Mutation_p.I109T NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 111 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 TGCAAAGCCAATCATTTTCTT 0.453 NA 13 80 0 0 0.001368 0 0 OR2J2 26707 broad.mit.edu 37 6 29141709 29141709 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:29141709G>T uc011dlm.1 + 1 399 c.297G>T c.(295-297)ATG>ATT p.M99I NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGGTTGCATGGTTCAACTTT 0.478 NA 49 195 3.4597e-24 5.79692e-24 0.00361 1 0 OR2J2 26707 broad.mit.edu 37 6 29141788 29141788 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:29141788G>C uc011dlm.1 + 1 478 c.376G>C c.(376-378)GCT>CCT p.A126P NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCGTTATGTAGCTGTGTGTAG 0.453 NA 66 271 0 0 0.00361 0 0 MDC1 9656 broad.mit.edu 37 6 30673394 30673394 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:30673394C>A uc003nrg.3 - 10 4006 c.3566G>T c.(3565-3567)GGA>GTA p.G1189V MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.G796V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1189 Pro-rich.|Interaction with the PRKDC complex. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 ACTTTTTCTTCCCCTAGTAAC 0.572 NA Other_conserved_DNA_damage_response_genes 25 303 5.35356e-11 7.54501e-11 0.00278 1 0 MDC1 9656 broad.mit.edu 37 6 30679203 30679203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:30679203C>A uc003nrg.3 - 7 2647 c.2207G>T c.(2206-2208)AGC>ATC p.S736I MDC1_uc003nrf.3_Missense_Mutation_p.S390I|MDC1_uc011dmp.1_Missense_Mutation_p.S607I NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 736 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TGTCTGGAAGCTGCAATGGGA 0.418 NA Other_conserved_DNA_damage_response_genes 11 38 0.000978159 0.00105815 0.000978 1 0 TNXB 7148 broad.mit.edu 37 6 32020721 32020721 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32020721C>T uc003nzl.2 - 26 9037 c.8835G>A c.(8833-8835)CCG>CCA p.P2945P NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2992 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CAGGGGGCTCCGGGGCCTCCG 0.657 NA 16 61 0 0 0.00499 0 0 TNXB 7148 broad.mit.edu 37 6 32025991 32025991 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32025991T>A uc003nzl.2 - 22 7871 c.7669A>T c.(7669-7671)AAG>TAG p.K2557* NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2617 Fibronectin type-III 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCCCTGTCCTTGTACTGCACG 0.652 NA 18 56 0 0 0.006122 0 0 PPT2 9374 broad.mit.edu 37 6 32123712 32123712 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32123712T>C uc003nzx.2 + 5 1066 c.498T>C c.(496-498)TAT>TAC p.Y166Y PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Silent_p.Y172Y|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Silent_p.Y166Y|PPT2_uc003oaa.2_Silent_p.Y166Y|PPT2_uc010jtu.1_Silent_p.Y166Y NM_005155 NP_005146 Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 isoform a 166 protein modification process lysosome palmitoyl-(protein) hydrolase activity 0 GGATCTGCTATAGCCCCTGGG 0.537 NA 10 99 0 0 0.000978 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169993 32169993 + Silent SNP C C A rs61729678 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32169993C>A uc003obb.2 - 21 3754 c.3615G>T c.(3613-3615)CTG>CTT p.L1205L NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1205 LNR 1.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CTGGGACTCCCAGAGAGCAGT 0.652 NA 18 71 3.32936e-07 4.19088e-07 0.006122 1 0 NOTCH4 4855 broad.mit.edu 37 6 32188604 32188604 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32188604T>C uc003obb.2 - 5 990 c.851A>G c.(850-852)CAG>CGG p.Q284R NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.Q284R NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 284 EGF-like 7; calcium-binding (Potential).|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 ATTCTGACACTGGTGGCTGAC 0.557 NA 14 117 0 0 0.003163 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34825135 34825135 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:34825135G>T uc003oju.3 + 12 1695 c.1461G>T c.(1459-1461)AAG>AAT p.K487N UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 487 ovary(3) 3 CAAGTAAAAAGCCATCTACAC 0.433 NA 23 75 1.37657e-19 2.22732e-19 0.001882 1 0 PNPLA1 285848 broad.mit.edu 37 6 36262158 36262158 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:36262158G>T uc010jwf.2 + 4 696 c.696G>T c.(694-696)TTG>TTT p.L232F PNPLA1_uc003olw.1_Missense_Mutation_p.L137F|PNPLA1_uc010jwe.1_Missense_Mutation_p.L146F NM_001145717 NP_001139189 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 232 lipid catabolic process hydrolase activity large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 CCCACGCATTGTTCCCCCCGG 0.622 NA 24 57 5.45727e-16 8.38041e-16 0.008361 1 0 STK38 11329 broad.mit.edu 37 6 36489584 36489584 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:36489584A>T uc003omg.2 - 4 905 c.317T>A c.(316-318)GTT>GAT p.V106D STK38_uc003omh.2_Missense_Mutation_p.V106D|STK38_uc003omi.2_Missense_Mutation_p.V106D NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 106 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 TTTCTTCTGAACAAGCCGTAC 0.358 Colon(180;997 3561 16158) NA 12 61 0 0 0.001368 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740545 50740545 + Missense_Mutation SNP G G C rs78823892 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:50740545G>C uc003paf.2 + 8 1839 c.1327G>C c.(1327-1329)GTG>CTG p.V443L TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 443 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) AGAGGCTGCCGTGAAAGAGGG 0.453 NA 3 37 0 0 0.009096 0 0 IL17A 3605 broad.mit.edu 37 6 52054021 52054022 + Missense_Mutation DNP CC CC AA TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:52054021_52054022CC>AA uc003pak.1 + 3 444_445 c.399_400CC>AA c.(397-402)TTCCGG>TTAAGG p.F133L NM_002190 NP_002181 Q16552 IL17_HUMAN interleukin 17A precursor 133 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity 0 Lung NSC(77;0.116) CCAACTCCTTCCGGCTGGAGAA 0.599 NA 12 66 0 0 0.004672 0 0 EYS 346007 broad.mit.edu 37 6 66205196 66205196 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:66205196G>T uc011dxu.1 - 4 646 c.108C>A c.(106-108)CCC>CCA p.P36P EYS_uc003peq.2_Silent_p.P36P|EYS_uc003per.1_Silent_p.P36P|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 36 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CATATGATGAGGGTTGTGGAT 0.388 NA 31 131 4.02929e-09 5.40584e-09 0.002096 1 0 COL19A1 1310 broad.mit.edu 37 6 70744142 70744142 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:70744142G>T uc003pfc.1 + 13 1203 c.1086G>T c.(1084-1086)TTG>TTT p.L362F COL19A1_uc010kam.1_Missense_Mutation_p.L258F NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 362 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TACAGGGTTTGAAAGGTGACT 0.378 NA 4 84 0.00909568 0.00944648 0.009096 1 0 IMPG1 3617 broad.mit.edu 37 6 76657190 76657190 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:76657190T>C uc003pik.1 - 14 2015 c.1885A>G c.(1885-1887)AGA>GGA p.R629G NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 629 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CTCCCGTTTCTGAAGTTAAGT 0.403 Pancreas(37;839 1141 2599 26037) NA 15 40 0 0 0.004007 0 0 CNR1 1268 broad.mit.edu 37 6 88853926 88853926 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:88853926C>A uc011dzq.1 - 2 4631 c.1068G>T c.(1066-1068)TGG>TGT p.W356C CNR1_uc010kbz.2_Missense_Mutation_p.W356C|CNR1_uc011dzr.1_Missense_Mutation_p.W356C|CNR1_uc011dzs.1_Missense_Mutation_p.W356C|CNR1_uc003pmq.3_Missense_Mutation_p.W356C|CNR1_uc011dzt.1_Missense_Mutation_p.W356C|CNR1_uc010kca.2_Missense_Mutation_p.W323C NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 356 Helical; Name=6; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GCAGAGGGCCCCAGCAGATGA 0.522 NA 9 98 1.12685e-05 1.33802e-05 0.004482 1 0 WASF1 8936 broad.mit.edu 37 6 110434599 110434599 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:110434599G>T uc003ptv.1 - 5 1035 c.198C>A c.(196-198)GTC>GTA p.V66V WASF1_uc003ptw.1_Silent_p.V66V|WASF1_uc003ptx.1_Silent_p.V66V|WASF1_uc003pty.1_Silent_p.V66V|WASF1_uc003ptz.1_Silent_p.V66V NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 66 actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GCAATGAGTTGACTCTGAAGG 0.308 NA 9 18 0.000274275 0.000303231 0.004482 1 0 TAAR2 9287 broad.mit.edu 37 6 132938854 132938854 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:132938854A>T uc003qdl.1 - 2 491 c.491T>A c.(490-492)CTA>CAA p.L164Q TAAR2_uc010kfr.1_Missense_Mutation_p.L119Q NM_001033080 NP_001028252 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 isoform 1 164 Helical; Name=4; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) ACATAGAAGTAGCAATCTTTT 0.408 NA 7 81 0 0 0.001984 0 0 VNN2 8875 broad.mit.edu 37 6 133070955 133070955 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:133070955C>T uc003qdt.2 - 6 1261 c.1250G>A c.(1249-1251)CGG>CAG p.R417Q VNN2_uc003qds.2_Missense_Mutation_p.R126Q|VNN2_uc010kgb.2_Missense_Mutation_p.R196Q|VNN2_uc003qdv.2_Missense_Mutation_p.R364Q NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 417 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TTCTACTGGCCGTCCACAAGT 0.408 NA 6 66 0 0 0.001984 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589451 136589451 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:136589451G>A uc003qgx.1 - 10 2499 c.2246C>T c.(2245-2247)TCT>TTT p.S749F BCLAF1_uc011edb.1_Missense_Mutation_p.S77F|BCLAF1_uc003qgw.1_Missense_Mutation_p.S576F|BCLAF1_uc003qgy.1_Missense_Mutation_p.S747F|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S747F NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 749 Poly-Ser. induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGAAGATCGAGAATGATCTTG 0.343 Colon(142;1534 1789 5427 7063 28491) NA 6 64 0 0 0.001168 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584589 138584589 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:138584589G>T uc003qhu.2 + 12 1969 c.1969G>T c.(1969-1971)GCC>TCC p.A657S NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 657 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GCGAACTGCCGCCCTGTCTCT 0.607 NA 10 77 1.76689e-08 2.32097e-08 0.006214 1 0 SYNE1 23345 broad.mit.edu 37 6 152757200 152757200 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:152757200C>A uc010kiw.2 - 33 4788 c.4186G>T c.(4186-4188)GCT>TCT p.A1396S SYNE1_uc003qot.3_Missense_Mutation_p.A1403S|SYNE1_uc003qou.3_Missense_Mutation_p.A1396S|SYNE1_uc010kjb.1_Missense_Mutation_p.A1379S|SYNE1_uc003qow.2_Missense_Mutation_p.A691S|SYNE1_uc003qox.1_Missense_Mutation_p.A912S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1396 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGTTCTCAGCCTGGACTGCA 0.388 NA HNSCC(10;0.0054) 8 67 0.00307968 0.00327977 0.00308 1 0 CARD11 84433 broad.mit.edu 37 7 2984046 2984046 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:2984046C>T uc003smv.2 - 5 888 c.484G>A c.(484-486)GAG>AAG p.E162K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 162 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGCTTCTTCTCATCCTCCAGC 0.577 NA Mis DLBCL 34 78 0 0 0.004878 0 0 SDK1 221935 broad.mit.edu 37 7 4153881 4153881 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:4153881G>T uc003smx.2 + 25 3937 c.3798G>T c.(3796-3798)GTG>GTT p.V1266V SDK1_uc010kso.2_Silent_p.V542V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1266 Fibronectin type-III 6. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGAGCGAGGTGGTGCGGGGCC 0.637 NA 5 23 0.000602214 0.000659027 0.000602 1 0 DGKB 1607 broad.mit.edu 37 7 14613946 14613946 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:14613946G>T uc003ssz.2 - 19 1851 c.1664C>A c.(1663-1665)ACA>AAA p.T555K DGKB_uc011jxt.1_Missense_Mutation_p.T536K|DGKB_uc003sta.2_Missense_Mutation_p.T555K|DGKB_uc011jxu.1_Missense_Mutation_p.T554K NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 555 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) CATGATTTCTGTGCTGTTTTC 0.348 NA 46 117 1.5731e-28 2.69572e-28 0.002852 1 0 MEOX2 4223 broad.mit.edu 37 7 15652023 15652023 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:15652023C>A uc003stc.2 - 3 1185 c.904G>T c.(904-906)GCG>TCG p.A302S MEOX2_uc011jxw.1_Missense_Mutation_p.A302S NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 302 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CATAAGTGCGCATGCTCTGAG 0.478 Esophageal Squamous(140;197 1769 16409 18257 29929) NA 11 76 0.000978159 0.00105815 0.000978 1 0 HDAC9 9734 broad.mit.edu 37 7 18868817 18868817 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:18868817C>T uc003suh.2 + 17 2388 c.2347C>T c.(2347-2349)CAC>TAC p.H783Y HDAC9_uc003sue.2_Missense_Mutation_p.H783Y|HDAC9_uc011jyd.1_Missense_Mutation_p.H783Y|HDAC9_uc003sui.2_Missense_Mutation_p.H786Y|HDAC9_uc003suj.2_Missense_Mutation_p.H742Y|HDAC9_uc003suk.2_Missense_Mutation_p.H31Y|HDAC9_uc003sua.1_Missense_Mutation_p.H761Y NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 783 Histone deacetylase. By similarity. 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) CCCTGGCCATCACGCTGAAGA 0.527 NA 15 104 0 0 0.00499 0 0 DNAH11 8701 broad.mit.edu 37 7 21856246 21856246 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:21856246C>A uc003svc.2 + 65 10546 c.10515C>A c.(10513-10515)CCC>CCA p.P3505P NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3505 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TGATAGATCCCCAGCAACAGG 0.488 NA Kartagener_syndrome 14 28 4.14922e-12 5.95907e-12 0.004007 1 0 CLK2P 1197 broad.mit.edu 37 7 23624887 23624887 + Missense_Mutation SNP G G T rs73077128 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:23624887G>T uc003swk.2 - 1 1260 c.610C>A c.(610-612)CGT>AGT p.R204S NR_002711 SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2; 0 CAGTTCTCACGAACATAGCGT 0.498 NA 17 110 2.23348e-06 2.69879e-06 0.004007 1 0 C7orf46 340277 broad.mit.edu 37 7 23728907 23728907 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:23728907G>T uc003swo.3 + 3 348 c.259G>T c.(259-261)GAC>TAC p.D87Y C7orf46_uc003swq.3_Missense_Mutation_p.D87Y|C7orf46_uc003swr.3_Missense_Mutation_p.D29Y|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA NM_199136 NP_954587 A4D161 CG046_HUMAN hypothetical protein LOC340277 isoform 1 87 0 ACATAAAACTGACTTGGAAGC 0.398 NA 24 71 8.24728e-16 1.26391e-15 0.004656 1 0 NEUROD6 63974 broad.mit.edu 37 7 31378610 31378610 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:31378610C>T uc003tch.2 - 2 626 c.273G>A c.(271-273)AGG>AGA p.R91R NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 91 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 TGAACTTGACCCTTTCCAATC 0.408 NA 30 264 0 0 0.002836 0 0 CCDC129 223075 broad.mit.edu 37 7 31614183 31614183 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:31614183T>A uc003tcj.1 + 7 1418 c.425T>A c.(424-426)ATA>AAA p.I142K CCDC129_uc011kad.1_Missense_Mutation_p.I152K|CCDC129_uc003tci.1_Missense_Mutation_p.I141K|CCDC129_uc011kae.1_Missense_Mutation_p.I168K|CCDC129_uc003tck.1_Missense_Mutation_p.I50K NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 142 0 TTTTGGGAGATAGATCCAGTG 0.448 NA 27 182 0 0 0.008361 0 0 BMPER 168667 broad.mit.edu 37 7 34125418 34125418 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:34125418C>A uc011kap.1 + 13 1573 c.1459C>A c.(1459-1461)CCG>ACG p.P487T NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 487 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 CATGGCTGCGCCGCATCTCAA 0.438 NA 17 62 5.3912e-06 6.45233e-06 0.006122 1 0 GPR141 353345 broad.mit.edu 37 7 37780254 37780254 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:37780254T>C uc003tfm.1 + 1 259 c.259T>C c.(259-261)TTC>CTC p.F87L uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 87 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 TGGGCTGCCCTTCTGCAAATT 0.488 NA 10 91 0 0 0.008291 0 0 NPC1L1 29881 broad.mit.edu 37 7 44576029 44576029 + Splice_Site SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:44576029T>C uc003tlb.2 - 4 1738 c.1682_splice c.e4-1 p.G561_splice NPC1L1_uc003tlc.2_Splice_Site_p.G561_splice|NPC1L1_uc011kbw.1_Splice_Site_p.G561_splice|NPC1L1_uc003tld.2_Splice_Site_p.G561_splice NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) AGTCCTTTCCTGGGATAAGAA 0.607 NA 25 58 0 0 0.00632 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944779 47944779 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:47944779T>A uc003tny.1 - 11 1666 c.1666A>T c.(1666-1668)AAA>TAA p.K556* NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 556 Extracellular (Potential).|PKD 1. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGTCTTTTTTTAATGCTTCTT 0.433 NA 57 71 0 0 0.00361 0 0 IKZF1 10320 broad.mit.edu 37 7 50468265 50468266 + Missense_Mutation DNP GG GG TT TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:50468265_50468266GG>TT uc003tow.3 + 9 1668_1669 c.1500_1501GG>TT c.(1498-1503)CAGGAC>CATTAC p.500_501QD>HY IKZF1_uc003tox.3_Missense_Mutation_p.458_459QD>HY|IKZF1_uc003toy.3_Missense_Mutation_p.458_459QD>HY|IKZF1_uc011kck.1_Missense_Mutation_p.413_414QD>HY|IKZF1_uc003toz.3_Missense_Mutation_p.470_471QD>HY|IKZF1_uc010kyx.2_Missense_Mutation_p.240_241QD>HY|IKZF1_uc003tpa.3_Missense_Mutation_p.242_243QD>HY NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 500_501 C2H2-type 6. cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) ACCACAGCCAGGACCGGTACGA 0.629 NA D ALL 6 37 0 0 0.004672 0 0 COBL 23242 broad.mit.edu 37 7 51096328 51096328 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:51096328T>A uc003tpr.3 - 10 2650 c.2465A>T c.(2464-2466)CAC>CTC p.H822L COBL_uc003tps.2_Missense_Mutation_p.H879L|COBL_uc011kcl.1_Missense_Mutation_p.H822L|COBL_uc003tpp.3_Missense_Mutation_p.H608L|COBL_uc003tpq.3_Missense_Mutation_p.H763L|COBL_uc003tpo.3_Missense_Mutation_p.H364L NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 822 skin(3)|ovary(2) 5 Glioma(55;0.08) GCCCTCATGGTGGGCAGACTT 0.642 NSCLC(189;2119 2138 12223 30818 34679) NA 17 42 0 0 0.008871 0 0 CALN1 83698 broad.mit.edu 37 7 71252771 71252771 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:71252771C>T uc003twa.3 - 6 1176 c.649G>A c.(649-651)GGC>AGC p.G217S CALN1_uc003twb.3_Missense_Mutation_p.G259S|CALN1_uc003twc.3_Missense_Mutation_p.G217S NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 217 Extracellular (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TACTCCATGCCGCTCCGGAGT 0.592 NA 11 31 0 0 0.000978 0 0 GTF2I 2969 broad.mit.edu 37 7 74133245 74133245 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:74133245G>A uc003uau.2 + 12 1298 c.928G>A c.(928-930)GAG>AAG p.E310K GTF2I_uc003uav.2_Intron|GTF2I_uc003uaw.2_Missense_Mutation_p.E290K|GTF2I_uc003uay.2_Intron|GTF2I_uc003uax.2_Intron|uc003uaz.2_Intron NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 310 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 CCCTGAAGTTGAGGTGACTAT 0.318 NA 4 26 0 0 0.009096 0 0 SRRM3 222183 broad.mit.edu 37 7 75894095 75894095 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:75894095C>T uc010ldi.2 + 9 896 c.687C>T c.(685-687)TCC>TCT p.S229S SRRM3_uc011kgi.1_5'Flank NM_001110199 NP_001103669 serine/arginine repetitive matrix 3 0 CTCGAAGCTCCAAGTGCAAAA 0.353 NA 12 37 0 0 0.001368 0 0 CACNA2D1 781 broad.mit.edu 37 7 81635091 81635091 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:81635091G>T uc003uhr.1 - 17 1761 c.1505C>A c.(1504-1506)CCA>CAA p.P502Q NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 502 Extracellular (Potential).|Cache. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGTAAAACGTGGTGTCAGTCT 0.348 NA 11 51 4.68919e-08 6.11704e-08 0.008291 1 0 PCLO 27445 broad.mit.edu 37 7 82544203 82544203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:82544203C>A uc003uhx.2 - 7 13388 c.13099G>T c.(13099-13101)GTT>TTT p.V4367F PCLO_uc003uhv.2_Missense_Mutation_p.V4367F|PCLO_uc010lec.2_Missense_Mutation_p.V1332F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4298 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGCTGGCCAACAGGACTGAGT 0.517 NA 9 48 3.09899e-07 3.91396e-07 0.004482 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86521071 86521071 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:86521071A>T uc011kha.1 - 21 3184 c.2999T>A c.(2998-3000)CTA>CAA p.L1000Q KIAA1324L_uc003uif.1_Missense_Mutation_p.L760Q|KIAA1324L_uc011kgz.1_Missense_Mutation_p.L886Q|KIAA1324L_uc003uie.2_Missense_Mutation_p.L833Q NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 1000 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) TTTTCCTAGTAGTGACTGTTT 0.378 NA 10 104 0 0 0.000978 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87407258 87407258 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:87407258C>T uc003ujb.2 + 9 1405 c.994C>T c.(994-996)CTT>TTT p.L332F RUNDC3B_uc011khd.1_Missense_Mutation_p.L315F|RUNDC3B_uc011khe.1_Missense_Mutation_p.L315F|RUNDC3B_uc003ujc.2_Missense_Mutation_p.L315F|RUNDC3B_uc003ujd.2_Missense_Mutation_p.L237F NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 332 Potential. skin(1) 1 Esophageal squamous(14;0.00164) AATTGTGGAGCTTCAAGATCA 0.353 NA 19 53 0 0 0.010504 0 0 SAMD9 54809 broad.mit.edu 37 7 92730776 92730776 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:92730776G>C uc003umf.2 - 3 4891 c.4635C>G c.(4633-4635)ATC>ATG p.I1545M SAMD9_uc003umg.2_Missense_Mutation_p.I1545M NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1545 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTTTTCATTGATTCCATATT 0.388 NA 19 73 0 0 0.006122 0 0 SLC25A13 10165 broad.mit.edu 37 7 95822393 95822393 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:95822393G>A uc003uof.3 - 6 762 c.571C>T c.(571-573)CGC>TGC p.R191C SLC25A13_uc003uog.3_Missense_Mutation_p.R191C|SLC25A13_uc011kik.1_Missense_Mutation_p.R83C NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 191 EF-hand 4. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) ACATGGGGGCGGATGGTGACC 0.448 NA 12 64 0 0 0.000978 0 0 MUC17 140453 broad.mit.edu 37 7 100678887 100678887 + Missense_Mutation SNP C C T rs141608296 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:100678887C>T uc003uxp.1 + 3 4243 c.4190C>T c.(4189-4191)CCG>CTG p.P1397L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1397 Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GGAACCACTCCGTTAACAAGT 0.507 NA 138 373 0 0 0.00361 0 0 FBXL13 222235 broad.mit.edu 37 7 102608499 102608499 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:102608499C>T uc003vaq.2 - 7 988 c.561G>A c.(559-561)TTG>TTA p.L187L FBXL13_uc010liq.1_Silent_p.L2L|FBXL13_uc010lir.1_Silent_p.L187L|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.L187L|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 187 F-box. 0 GTTGTGTCATCAACATCCAGG 0.343 NA 9 67 0 0 0.004482 0 0 CDHR3 222256 broad.mit.edu 37 7 105641938 105641938 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:105641938A>T uc003vdl.3 + 7 852 c.744A>T c.(742-744)GAA>GAT p.E248D CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.E235D|CDHR3_uc011klt.1_Missense_Mutation_p.E160D|CDHR3_uc003vdn.2_5'UTR NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 248 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TCCTGGAGGAACTGAGTCCAG 0.517 NA 36 104 0 0 0.002836 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509209 106509209 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:106509209C>G uc003vdv.3 + 2 1288 c.1203C>G c.(1201-1203)CCC>CCG p.P401P PIK3CG_uc003vdu.2_Silent_p.P401P|PIK3CG_uc003vdw.2_Silent_p.P401P NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 401 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GAACCAGCCCCAAACCCTTCA 0.502 NA 8 75 0 0 0.004482 0 0 LAMB1 3912 broad.mit.edu 37 7 107575875 107575875 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:107575875T>C uc003vew.2 - 27 4508 c.4173A>G c.(4171-4173)TCA>TCG p.S1391S LAMB1_uc003vev.2_Silent_p.S1415S NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1391 Domain II. 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) CGGCAGCGGCTGAAAGGTCTA 0.418 NA 12 215 0 0 0.001368 0 0 C7orf66 154907 broad.mit.edu 37 7 108524073 108524073 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:108524073C>A uc003vfo.2 - 2 387 c.339G>T c.(337-339)ATG>ATT p.M113I NM_001024607 NP_001019778 A4D0T2 CG066_HUMAN hypothetical protein LOC154907 113 integral to membrane ovary(2) 2 CTTAATTTCCCATTTCCTTTG 0.323 NA 22 55 3.5997e-14 5.3746e-14 0.002299 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117375441 117375441 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:117375441C>T uc003vjf.2 - 15 3662 c.3570G>A c.(3568-3570)AAG>AAA p.K1190K NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1190 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGATTTTCTTCTTACTGGGAG 0.313 NA 8 161 0 0 0.00308 0 0 Unknown 0 broad.mit.edu 37 7 124116560 124116560 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:124116560G>T uc011kod.1 + 1 136 c.136G>T c.(136-138)GGA>TGA p.G46* NM_001085395 NP_001078864 RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2; Short=CTD phosphatase SSU72-like protein 2; EC=3.1.3.16; NA GAGGCTACCAGGACGAAGACC 0.468 NA 5 141 3.59834e-05 4.19342e-05 0.001168 1 0 GPR37 2861 broad.mit.edu 37 7 124404249 124404249 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:124404249G>C uc003vli.2 - 1 1433 c.782C>G c.(781-783)GCC>GGC p.A261G NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 261 Extracellular (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 GACCGCGTAGGCTCCATAGGA 0.607 NA 9 47 0 0 0.008291 0 0 CCDC136 64753 broad.mit.edu 37 7 128454947 128454947 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:128454947T>A uc003vnv.1 + 15 3386 c.3019T>A c.(3019-3021)TCT>ACT p.S1007T CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.S823T|CCDC136_uc010llq.1_Missense_Mutation_p.S376T|CCDC136_uc003vny.1_Intron NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1007 integral to membrane protein binding ovary(2) 2 CTCGGATACTTCTGAGAGCGA 0.468 NA 3 14 0 0 0.004672 0 0 FLNC 2318 broad.mit.edu 37 7 128480720 128480720 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:128480720C>A uc003vnz.3 + 10 1877 c.1668C>A c.(1666-1668)ATC>ATA p.I556I FLNC_uc003voa.3_Silent_p.I556I NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 556 Filamin 3. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCTACGCCATCCCTCGCAGGT 0.637 NA 23 90 2.27731e-05 2.67043e-05 0.001882 1 0 EXOC4 60412 broad.mit.edu 37 7 132937864 132937864 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:132937864G>C uc003vrk.2 + 1 42 c.7G>C c.(7-9)GCA>CCA p.A3P EXOC4_uc011kpo.1_5'Flank|EXOC4_uc003vri.2_Missense_Mutation_p.A3P|EXOC4_uc003vrj.2_Missense_Mutation_p.A3P NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 3 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) CAAGATGGCGGCAGAAGCAGC 0.577 NA 12 73 0 0 0.00245 0 0 DGKI 9162 broad.mit.edu 37 7 137154319 137154319 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:137154319G>C uc003vtt.2 - 25 2475 c.2474C>G c.(2473-2475)TCT>TGT p.S825C DGKI_uc003vtu.2_Missense_Mutation_p.S525C NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 825 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CCACCGAGGAGAGAGCCTCTG 0.527 NA 10 47 0 0 0.000978 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478932 141478932 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:141478932C>T uc003vwq.1 + 1 644 c.644C>T c.(643-645)ACT>ATT p.T215I NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 215 Cytoplasmic (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) AAAAATGCCACTGGTTTCTGG 0.443 NA 4 98 0 0 0.009096 0 0 MGAM 8972 broad.mit.edu 37 7 141794611 141794611 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:141794611A>T uc003vwy.2 + 40 4772 c.4718A>T c.(4717-4719)CAG>CTG p.Q1573L NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1573 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CGCTGGATGCAGCTGGGGGCC 0.498 NA 5 35 0 0 0.001168 0 0 EPHB6 2051 broad.mit.edu 37 7 142561848 142561848 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:142561848G>T uc011kst.1 + 7 1077 c.290G>T c.(289-291)CGG>CTG p.R97L EPHB6_uc011ksu.1_Missense_Mutation_p.R97L|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 97 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) TTTGTGGAGCGGCGCGGGGCC 0.657 NA 25 168 6.36457e-07 7.90591e-07 0.003954 1 0 TRPV6 55503 broad.mit.edu 37 7 142573593 142573593 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:142573593G>C uc003wbx.1 - 7 1043 c.827C>G c.(826-828)ACT>AGT p.T276S TRPV6_uc003wbw.1_Missense_Mutation_p.T62S|TRPV6_uc010lou.1_Missense_Mutation_p.T147S NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 276 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) GTCATAGAGAGTCGAGGTCAG 0.527 NA 22 101 0 0 0.00333 0 0 CLCN1 1180 broad.mit.edu 37 7 143028687 143028687 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:143028687C>A uc003wcr.1 + 10 1195 c.1108C>A c.(1108-1110)CGC>AGC p.R370S CLCN1_uc011ktc.1_Missense_Mutation_p.R32S NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 370 Helical; (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) GTATCTGCATCGCCAAGTCAT 0.478 NA 7 69 0.000274275 0.000303231 0.004482 1 0 EPHA1 2041 broad.mit.edu 37 7 143094673 143094673 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:143094673T>G uc003wcz.2 - 9 1780 c.1693A>C c.(1693-1695)ATT>CTT p.I565L NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 565 Helical; (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) AAAACGAGAATCCCAAGCAGC 0.622 NA 3 51 0 0 0.004672 0 0 EPHA1 2041 broad.mit.edu 37 7 143098433 143098433 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:143098433C>A uc003wcz.2 - 3 503 c.416G>T c.(415-417)CGG>CTG p.R139L NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 139 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GAACAAGGGCCGTCGGAGCTG 0.587 NA 11 94 1.58986e-06 1.92726e-06 0.008291 1 0 CNTNAP2 26047 broad.mit.edu 37 7 148112510 148112510 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:148112510C>G uc003weu.1 + 24 4314 c.3798C>G c.(3796-3798)GGC>GGG p.G1266G CNTNAP2_uc003wev.1_Silent_p.G43G NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1266 Helical; (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) CTCCGTCAGGCGTCATTGCTG 0.557 NA HNSCC(39;0.1) 6 47 0 0 0.001984 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324822 150324823 + Missense_Mutation DNP CC CC AA TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:150324822_150324823CC>AA uc003whn.2 - 3 1287_1288 c.863_864GG>TT c.(862-864)GGG>GTT p.G288V GIMAP6_uc003whm.2_Missense_Mutation_p.G208V NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 288 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTCAGCCTTCCCCAGCAGGCA 0.584 NA 16 77 0 0 0.004672 0 0 ABCB8 11194 broad.mit.edu 37 7 150730964 150730965 + Missense_Mutation DNP TT TT CC TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 TT TT - - TT TT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:150730964_150730965TT>CC uc003wil.3 + 3 512_513 c.419_420TT>CC c.(418-420)TTT>TCC p.F140S ABCB8_uc003wii.2_Missense_Mutation_p.F160S|ABCB8_uc003wij.3_Missense_Mutation_p.F123S|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.F123S|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.F123S NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 140 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTGGCAGTTTCTGCACCCCC 0.624 NA 9 50 0 0 0.004672 0 0 DEFA4 1669 broad.mit.edu 37 8 6793589 6793589 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:6793589G>C uc003wqu.1 - 3 298 c.247C>G c.(247-249)CTC>GTC p.L83V NM_001925 NP_001916 P12838 DEF4_HUMAN defensin, alpha 4 preproprotein 83 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space large_intestine(1) 1 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CCACCAATGAGGCAGTTCCCA 0.512 NA 9 50 0 0 0.000978 0 0 C8orf74 203076 broad.mit.edu 37 8 10557970 10557970 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:10557970G>T uc003wtd.1 + 4 903 c.874G>T c.(874-876)GCA>TCA p.A292S C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 292 0 COAD - Colon adenocarcinoma(149;0.0811) GAAAGCGAAGGCAAGGAAGTA 0.622 NA 6 7 5.9392e-07 7.40191e-07 0.001168 1 0 DLC1 10395 broad.mit.edu 37 8 12952352 12952352 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:12952352C>T uc003wwm.2 - 12 3886 c.3442G>A c.(3442-3444)GAC>AAC p.D1148N DLC1_uc003wwk.1_Missense_Mutation_p.D711N|DLC1_uc003wwl.1_Missense_Mutation_p.D745N|DLC1_uc011kxx.1_Missense_Mutation_p.D637N NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1148 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TTCAGCATGTCTGCCACGTCA 0.473 NA 5 34 0 0 0.001168 0 0 BMP1 649 broad.mit.edu 37 8 22023023 22023023 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:22023023G>C uc003xbg.2 + 1 349 c.105G>C c.(103-105)GAG>GAC p.E35D BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Missense_Mutation_p.E35D|BMP1_uc003xbb.2_Missense_Mutation_p.E35D|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_5'UTR|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_5'UTR|BMP1_uc011kzc.1_5'UTR|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 35 cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TGGCGGAGGAGGACGACTCGG 0.532 NA 6 9 0 0 0.001168 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554910 40554910 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:40554910G>T uc003xnr.2 - 4 349 c.203C>A c.(202-204)GCC>GAC p.A68D ZMAT4_uc003xns.2_Missense_Mutation_p.A68D NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 68 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) CACCATGTCGGCATCACTTCC 0.478 NA 16 26 6.31663e-08 8.21161e-08 0.003163 1 0 ANK1 286 broad.mit.edu 37 8 41530184 41530184 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:41530184G>T uc003xok.2 - 38 4868 c.4784C>A c.(4783-4785)GCC>GAC p.A1595D NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.A1595D|ANK1_uc003xoj.2_Missense_Mutation_p.A1595D|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.A1636D NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1595 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGACCTGTGGCATCAGAGTC 0.597 NA 78 83 1.25089e-41 2.18833e-41 0.00361 1 0 TRIM55 84675 broad.mit.edu 37 8 67062624 67062624 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:67062624G>A uc003xvv.2 + 7 1134 c.908G>A c.(907-909)GGC>GAC p.G303D TRIM55_uc003xvu.2_Missense_Mutation_p.G303D|TRIM55_uc003xvw.2_Missense_Mutation_p.G303D|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 303 COS. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ATAGAACATGGCTATGAGAAC 0.368 NA 7 102 0 0 0.001984 0 0 CRH 1392 broad.mit.edu 37 8 67089250 67089250 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:67089250C>G uc003xvy.1 - 2 648 c.463G>C c.(463-465)GAG>CAG p.E155Q NM_000756 NP_000747 P06850 CRF_HUMAN corticotropin releasing hormone precursor 155 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity 0 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) GGAGGCTCCTCGGACCGCCTT 0.672 NA OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 27 0 0 0.006214 0 0 ADHFE1 137872 broad.mit.edu 37 8 67355077 67355077 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:67355077G>A uc003xwb.3 + 3 176 c.142G>A c.(142-144)GAG>AAG p.E48K ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Intron|ADHFE1_uc003xwe.3_Intron|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Intron|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 48 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TTATGCCTTTGAGGTATATTC 0.274 NA 18 65 0 0 0.006122 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68200218 68200218 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:68200218T>C uc003xxo.1 - 7 1389 c.999A>G c.(997-999)GTA>GTG p.V333V NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 333 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CCATTTCTTCTACAATGTTCT 0.323 NA 30 111 0 0 0.002445 0 0 NCOA2 10499 broad.mit.edu 37 8 71078980 71078980 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:71078980C>A uc003xyn.1 - 7 713 c.551G>T c.(550-552)GGA>GTA p.G184V NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 184 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGACCAAGATCCCCCATTTAC 0.408 NA T RUNXBP2 AML 48 187 2.52991e-16 3.91694e-16 0.00361 1 0 JPH1 56704 broad.mit.edu 37 8 75227264 75227264 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:75227264C>A uc003yae.2 - 2 1011 c.971G>T c.(970-972)GGC>GTC p.G324V JPH1_uc003yaf.2_Missense_Mutation_p.G324V|JPH1_uc003yag.1_Missense_Mutation_p.G188V NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 324 Cytoplasmic (Potential).|MORN 7. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTCTTTGGAGCCGTCAGGAAA 0.463 NA 50 142 1.19451e-25 2.01041e-25 0.00361 1 0 ZFHX4 79776 broad.mit.edu 37 8 77690524 77690524 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:77690524C>A uc003yav.2 + 4 3483 c.3096C>A c.(3094-3096)GTC>GTA p.V1032V ZFHX4_uc003yau.1_Silent_p.V1058V|ZFHX4_uc003yaw.1_Silent_p.V1032V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1032 C2H2-type 7. 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) CCACCAAGGTCAAGTTGAATC 0.542 NA HNSCC(33;0.089) 40 119 3.3946e-10 4.67921e-10 0.005524 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768313 77768313 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:77768313G>A uc003yav.2 + 10 9408 c.9021G>A c.(9019-9021)CCG>CCA p.P3007P ZFHX4_uc003yau.1_Silent_p.P3052P|ZFHX4_uc003yaw.1_Silent_p.P3007P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3007 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) ACTTGGCTCCGACCACGGTTC 0.507 NA HNSCC(33;0.089) 10 109 0 0 0.008291 0 0 STMN2 11075 broad.mit.edu 37 8 80577088 80577088 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:80577088C>T uc003ybj.2 + 5 570 c.519C>T c.(517-519)CTC>CTT p.L173L STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron|STMN2_uc003ybk.2_RNA NM_007029 NP_008960 Q93045 STMN2_HUMAN superiorcervical ganglia, neural specific 10 173 Potential. intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding ovary(1)|central_nervous_system(1) 2 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) ACAAGGAACTCCAGGTTGAAC 0.498 NA 10 34 0 0 0.006214 0 0 RBM12B 389677 broad.mit.edu 37 8 94746661 94746661 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:94746661T>A uc003yfz.2 - 3 2171 c.1978A>T c.(1978-1980)AGG>TGG p.R660W NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 660 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGGAGCCACCTTAAGTCCTCC 0.637 NA 57 132 0 0 0.00361 0 0 DPY19L4 286148 broad.mit.edu 37 8 95802050 95802050 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:95802050C>T uc003ygx.2 + 19 2208 c.2084C>T c.(2083-2085)TCT>TTT p.S695F NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 695 integral to membrane ovary(2) 2 Breast(36;3.85e-06) ATTAACTATTCTCCATATGTG 0.313 NA 26 113 0 0 0.004656 0 0 PABPC1 26986 broad.mit.edu 37 8 101718960 101718960 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:101718960G>A uc003yjs.1 - 11 2025 c.1521C>T c.(1519-1521)ACC>ACT p.T507T PABPC1_uc011lhc.1_Silent_p.T475T|PABPC1_uc011lhd.1_Silent_p.T462T|PABPC1_uc003yjt.1_Silent_p.T504T|PABPC1_uc003yju.2_Intron NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 507 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) ACTGTGGAACGGTGCGGACAG 0.438 NA 18 69 0 0 0.006122 0 0 PABPC1 26986 broad.mit.edu 37 8 101719186 101719186 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:101719186G>A uc003yjs.1 - 10 1880 c.1376C>T c.(1375-1377)CCT>CTT p.P459L PABPC1_uc011lhc.1_Missense_Mutation_p.P427L|PABPC1_uc011lhd.1_Missense_Mutation_p.P414L|PABPC1_uc003yjt.1_Missense_Mutation_p.P456L|PABPC1_uc003yju.2_Intron NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 459 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TGGTGGTCTAGGAGCAGCTGG 0.413 NA 9 59 0 0 0.006214 0 0 DCAF13 25879 broad.mit.edu 37 8 104427550 104427550 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:104427550G>T uc003yln.2 + 1 609 c.332G>T c.(331-333)CGC>CTC p.R111L SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing Error:Variant_position_missing_in_Q9NV06_after_alignment rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 CCAGCAGGCCGCCGCTCCGCG 0.637 NA 22 53 1.50039e-11 2.13855e-11 0.001882 1 0 ZFPM2 23414 broad.mit.edu 37 8 106456569 106456569 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:106456569G>T uc003ymd.2 + 3 284 c.261G>T c.(259-261)CCG>CCT p.P87P NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 87 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) CAGAGAAACCGGGGCAACCTG 0.443 NA 7 20 0.000157383 0.000177645 0.00308 1 0 TMEM74 157753 broad.mit.edu 37 8 109796746 109796746 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:109796746G>C uc003ymy.1 - 2 687 c.582C>G c.(580-582)ATC>ATG p.I194M TMEM74_uc003ymx.2_Intron NM_153015 NP_694560 Q96NL1 TMM74_HUMAN transmembrane protein 74 194 Helical; (Potential). autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CGATGTAAGAGATGATCACGA 0.552 NA 24 60 0 0 0.00278 0 0 CSMD3 114788 broad.mit.edu 37 8 113293524 113293524 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:113293524A>T uc003ynu.2 - 59 9546 c.9387T>A c.(9385-9387)GAT>GAA p.D3129E CSMD3_uc003yns.2_Missense_Mutation_p.D2331E|CSMD3_uc003ynt.2_Missense_Mutation_p.D3089E|CSMD3_uc011lhx.1_Missense_Mutation_p.D2960E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3129 Extracellular (Potential).|Sushi 23. 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 ATGTTGTGCCATCAATTCGGA 0.413 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 54 0 0 0.000978 0 0 CSMD3 114788 broad.mit.edu 37 8 113650925 113650925 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:113650925C>A uc003ynu.2 - 21 3685 c.3526G>T c.(3526-3528)GAA>TAA p.E1176* CSMD3_uc003yns.2_Nonsense_Mutation_p.E448*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E1136*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E1072* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1176 Extracellular (Potential).|CUB 6. 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 ATTTTCTCACCAGAGAATGTT 0.308 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 32 0.000274275 0.000303231 0.004482 1 0 TRPS1 7227 broad.mit.edu 37 8 116616407 116616407 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:116616407G>T uc003ynz.2 - 3 2209 c.1750C>A c.(1750-1752)CCG>ACG p.P584T TRPS1_uc011lhy.1_Missense_Mutation_p.P588T|TRPS1_uc003yny.2_Missense_Mutation_p.P597T|TRPS1_uc010mcy.2_Missense_Mutation_p.P584T NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 584 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) CAAGCAAACGGATAAGTAATT 0.468 NA Langer-Giedion_syndrome 7 44 2.7689e-08 3.63087e-08 0.001984 1 0 NOV 4856 broad.mit.edu 37 8 120435290 120435290 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:120435290G>T uc003yoq.2 + 5 1213 c.992G>T c.(991-993)TGC>TTC p.C331F NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 331 CTCK. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTGGGACCTGCACCTGTCAC 0.527 NA 18 222 2.4624e-09 3.30953e-09 0.008871 1 0 ENPP2 5168 broad.mit.edu 37 8 120629471 120629471 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:120629471G>A uc003yot.1 - 7 676 c.590C>T c.(589-591)ACA>ATA p.T197I ENPP2_uc003yos.1_Missense_Mutation_p.T197I|ENPP2_uc010mdd.1_Missense_Mutation_p.T197I NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 197 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGGAGAGTGTGTGCCACAAGA 0.378 Melanoma(20;305 879 2501 4818 31020) NA 16 66 0 0 0.007413 0 0 ZNF572 137209 broad.mit.edu 37 8 125988734 125988735 + Missense_Mutation DNP GG GG AT TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:125988734_125988735GG>AT uc003yrr.2 + 3 379_380 c.224_225GG>AT c.(223-225)TGG>TAT p.W75Y NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CCACTGACATGGGTTCAAGATG 0.386 NA HNSCC(60;0.17) 22 70 0 0 0.004672 0 0 KIAA0196 9897 broad.mit.edu 37 8 126071510 126071510 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:126071510C>A uc003yrt.2 - 14 2047 c.1718G>T c.(1717-1719)AGG>ATG p.R573M KIAA0196_uc011lir.1_Missense_Mutation_p.R425M|KIAA0196_uc003yru.1_Missense_Mutation_p.R147M NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 573 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TGGATTTACCCTTATGCTTTC 0.408 NA 12 71 1.5842e-08 2.09192e-08 0.001855 1 0 TG 7038 broad.mit.edu 37 8 133894758 133894759 + Missense_Mutation DNP GG GG TC TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:133894758_133894759GG>TC uc003ytw.2 + 7 831_832 c.790_791GG>TC c.(790-792)GGC>TCC p.G264S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 264 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CATTTTTGCTGGCCTGGACCTT 0.475 NA 56 217 0 0 0.004672 0 0 TG 7038 broad.mit.edu 37 8 133906086 133906086 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:133906086C>G uc003ytw.2 + 11 2954 c.2913C>G c.(2911-2913)GGC>GGG p.G971G NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 971 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGACCTCGGCCTTCCTCCGC 0.592 NA 30 76 0 0 0.009535 0 0 FAM135B 51059 broad.mit.edu 37 8 139155262 139155262 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:139155262G>T uc003yuy.2 - 16 3802 c.3631C>A c.(3631-3633)CGA>AGA p.R1211R FAM135B_uc003yux.2_Silent_p.R1112R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.R773R|FAM135B_uc003yvb.2_3'UTR NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1211 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) TACCTAATTCGGGATATGGAG 0.398 NA HNSCC(54;0.14) 12 53 2.27111e-07 2.87801e-07 0.001368 1 0 COL22A1 169044 broad.mit.edu 37 8 139601675 139601675 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:139601675C>G uc003yvd.2 - 65 5149 c.4702G>C c.(4702-4704)GGG>CGG p.G1568R COL22A1_uc011ljo.1_Missense_Mutation_p.G848R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1568 Pro-rich.|Gly-rich. 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) CCAGGTTCCCCGGGTTGACCT 0.577 NA HNSCC(7;0.00092) 8 12 0 0 0.00308 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956473 143956473 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:143956473C>G uc003yxi.2 - 8 1305 c.1298G>C c.(1297-1299)GGC>GCC p.G433A CYP11B1_uc010mex.2_Missense_Mutation_p.G132A|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.G504A NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 433 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CCTGCCGGAGCCCCTGATGTC 0.632 NA Familial_Hyperaldosteronism_type_I 27 90 0 0 0.007291 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958141 143958141 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:143958141C>T uc003yxi.2 - 4 763 c.756G>A c.(754-756)GTG>GTA p.V252V CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Silent_p.V252V|CYP11B1_uc010mey.2_Silent_p.V323V NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 252 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCTCCTTCCACACCTTGGGGC 0.602 NA Familial_Hyperaldosteronism_type_I 4 38 0 0 0.009096 0 0 PTPRD 5789 broad.mit.edu 37 9 8340382 8340382 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:8340382G>T uc003zkk.2 - 41 5925 c.5214C>A c.(5212-5214)ACC>ACA p.T1738T PTPRD_uc003zkp.2_Silent_p.T1332T|PTPRD_uc003zkq.2_Silent_p.T1331T|PTPRD_uc003zkr.2_Silent_p.T1322T|PTPRD_uc003zks.2_Silent_p.T1331T|PTPRD_uc003zkl.2_Silent_p.T1729T|PTPRD_uc003zkm.2_Silent_p.T1725T|PTPRD_uc003zkn.2_Silent_p.T1327T|PTPRD_uc003zko.2_Silent_p.T1328T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1738 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 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) TCACAACTATGGTGGAATTGT 0.498 NA TSP Lung(15;0.13) 7 36 0.00198382 0.0021157 0.001984 1 0 PTPRD 5789 broad.mit.edu 37 9 8518250 8518250 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:8518250C>A uc003zkk.2 - 20 1852 c.1141G>T c.(1141-1143)GCT>TCT p.A381S PTPRD_uc003zkp.2_Missense_Mutation_p.A381S|PTPRD_uc003zkq.2_Missense_Mutation_p.A381S|PTPRD_uc003zkr.2_Missense_Mutation_p.A375S|PTPRD_uc003zks.2_Missense_Mutation_p.A371S|PTPRD_uc003zkl.2_Missense_Mutation_p.A381S|PTPRD_uc003zkm.2_Missense_Mutation_p.A368S|PTPRD_uc003zkn.2_Missense_Mutation_p.A381S|PTPRD_uc003zko.2_Missense_Mutation_p.A378S NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 381 Fibronectin type-III 1.|Extracellular (Potential). 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) CTTAGTCCAGCGACACTGTAG 0.468 NA TSP Lung(15;0.13) 27 88 6.32553e-13 9.24312e-13 0.004656 1 0 CER1 9350 broad.mit.edu 37 9 14722195 14722195 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:14722195C>A uc003zlj.2 - 1 521 c.476G>T c.(475-477)TGG>TTG p.W159L NM_005454 NP_005445 O95813 CER1_HUMAN cerberus 1 precursor 159 BMP signaling pathway extracellular space cytokine activity 0 GBM - Glioblastoma multiforme(50;3.16e-06) GCAGGTCTCCCAATGTACTTC 0.527 NA 15 46 0.000422831 0.000466104 0.004007 1 0 BNC2 54796 broad.mit.edu 37 9 16419146 16419146 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:16419146C>A uc003zml.2 - 7 3281 c.3141G>T c.(3139-3141)AAG>AAT p.K1047N BNC2_uc011lmw.1_Missense_Mutation_p.K952N|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.K834N NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 1047 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TCAGGGTCCCCTTGTTGCTGT 0.468 NA 15 45 6.31663e-08 8.21161e-08 0.003163 1 0 IFNB1 3456 broad.mit.edu 37 9 21077402 21077402 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:21077402G>T uc003zok.2 - 1 542 c.467C>A c.(466-468)GCC>GAC p.A156D NM_002176 NP_002167 P01574 IFNB_HUMAN interferon, beta 1, fibroblast precursor 156 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity ovary(1)|breast(1)|kidney(1) 3 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) GTACTCCTTGGCCTTCAGGTA 0.433 NA 40 134 2.59497e-14 3.88988e-14 0.007835 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971108 21971108 + Missense_Mutation SNP C C T rs11552822 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:21971108C>T uc003zpk.2 - 2 462 c.250G>A c.(250-252)GAC>AAC p.D84N MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R139Q NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 84 ANK 3. D -> E (in a bladder tumor).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> H (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.D84Y(9)|p.D84V(4)|p.D84N(3)|p.D84G(2)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.D84D(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.D84fs*0(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGGGCAGCGTCGTGCACGGGT 0.741 D84Y(LK2_LUNG)|D84Y(DU145_PROSTATE) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 16 0 0 0.001168 0 0 C9orf72 203228 broad.mit.edu 37 9 27562475 27562475 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:27562475C>A uc003zqq.2 - 4 602 c.505_splice c.e4-1 p.G169_splice C9orf72_uc003zqr.1_Splice_Site_p.G169_splice NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) TACTCTGACCCTGCACAATAA 0.333 NA 9 33 0.000442599 0.000486472 0.006214 1 0 TAF1L 138474 broad.mit.edu 37 9 32632712 32632712 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:32632712C>A uc003zrg.1 - 1 2956 c.2866G>T c.(2866-2868)GCC>TCC p.A956S uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 956 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCAATGAAGGCCCTTGTGGTG 0.478 NA 18 132 4.75885e-15 7.21966e-15 0.00499 1 0 VCP 7415 broad.mit.edu 37 9 35059077 35059077 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:35059077G>A uc003zvy.2 - 15 2533 c.2144C>T c.(2143-2145)ACA>ATA p.T715I VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.T384I|VCP_uc010mki.1_Missense_Mutation_p.T670I NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 715 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGATGGGTTTGTCTGCCTCTC 0.547 NA 13 99 0 0 0.00245 0 0 FAM75A6 389730 broad.mit.edu 37 9 43626729 43626729 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:43626729T>A uc011lrb.1 - 4 1987 c.1958A>T c.(1957-1959)CAG>CTG p.Q653L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 653 integral to membrane 0 CTTCACCTTCTGTGCCTCCTT 0.557 NA 29 77 0 0 0.003271 0 0 Unknown 0 broad.mit.edu 37 9 69440145 69440145 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:69440145G>T uc010mnx.1 + 3 398 c.229G>T c.(229-231)GAA>TAA p.E77* NM_001098806 NP_001092276 coiled-coil domain containing 29 NA ACAGCAATGTGAAAAACTTGA 0.294 NA 4 65 0.00909568 0.00944648 0.009096 1 0 FOXB2 442425 broad.mit.edu 37 9 79635163 79635163 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:79635163C>T uc004ako.1 + 1 593 c.593C>T c.(592-594)CCC>CTC p.P198L NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 198 brain development|embryo development|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|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CCGTCACAGCCCCCGCAGCAA 0.433 NA 9 15 0 0 0.004007 0 0 NTRK2 4915 broad.mit.edu 37 9 87635137 87635137 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:87635137T>A uc004aoa.1 + 19 3079 c.2141T>A c.(2140-2142)ATG>AAG p.M714K NTRK2_uc004anz.1_Missense_Mutation_p.M730K NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 714 Protein kinase.|Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 GGCCACACAATGCTGCCCATT 0.572 NA TSP Lung(25;0.17) 29 77 0 0 0.008361 0 0 FBP1 2203 broad.mit.edu 37 9 97365818 97365818 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:97365818C>A uc004auw.3 - 7 1193 c.862G>T c.(862-864)GTC>TTC p.V288F FBP1_uc010mrl.2_Missense_Mutation_p.V288F NM_000507 NP_000498 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 288 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TTCTCCATGACGTAGGCCATG 0.542 Ovarian(142;590 2466 25593 44496) NA OREG0019330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 40 1.3612e-06 1.66615e-06 0.003163 1 0 RNF20 56254 broad.mit.edu 37 9 104317049 104317049 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:104317049A>T uc004bbn.2 + 15 2183 c.2093A>T c.(2092-2094)GAG>GTG p.E698V NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 698 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) ATGGCTGATGAGGATGCCTTG 0.423 NA 5 37 0 0 0.00308 0 0 LPAR1 1902 broad.mit.edu 37 9 113704146 113704146 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:113704146C>A uc004bfa.2 - 4 603 c.348G>T c.(346-348)CTG>CTT p.L116L LPAR1_uc011lwm.1_Silent_p.L117L|LPAR1_uc004bfb.2_Silent_p.L116L|LPAR1_uc004bfc.2_Silent_p.L116L|LPAR1_uc011lwn.1_Silent_p.L98L|LPAR1_uc011lwo.1_Silent_p.L117L|LPAR1_uc010mub.2_Silent_p.L116L NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 116 Extracellular (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 TGCTAACAGTCAGTCTCCGAG 0.498 NSCLC(115;661 2323 9836 34256) NA 47 91 2.65591e-33 4.61419e-33 0.00361 1 0 PAPPA 5069 broad.mit.edu 37 9 118950203 118950203 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:118950203G>T uc004bjn.2 + 2 1567 c.1186G>T c.(1186-1188)GAC>TAC p.D396Y PAPPA_uc011lxp.1_Missense_Mutation_p.D189Y|PAPPA_uc011lxq.1_Missense_Mutation_p.D189Y NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 396 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.D396E(1) ovary(4)|skin(4)|pancreas(1) 9 CTGGGAGCTGGACGTGCTGGA 0.577 NA 17 42 3.99206e-14 5.94864e-14 0.007413 1 0 DBC1 1620 broad.mit.edu 37 9 122004435 122004435 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:122004435C>A uc004bkc.2 - 4 925 c.469G>T c.(469-471)GCC>TCC p.A157S DBC1_uc004bkd.2_Missense_Mutation_p.A157S NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 157 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CTTTGAGTGGCATTCCCTGAC 0.483 NA 26 54 9.04412e-07 1.10882e-06 0.004656 1 0 CDK5RAP2 55755 broad.mit.edu 37 9 123165113 123165113 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:123165113T>A uc004bkf.2 - 34 5459 c.5278A>T c.(5278-5280)AGC>TGC p.S1760C CDK5RAP2_uc010mvi.2_Missense_Mutation_p.S769C|CDK5RAP2_uc004bke.2_Missense_Mutation_p.S1045C|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.S1681C|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.S1025C|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.S1025C|CDK5RAP2_uc011lya.1_Missense_Mutation_p.S1025C|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S1530C NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1760 Interaction with PCNT and AKAP9.|Interaction with CDK5R1 (By similarity). brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CTTGTGGAGCTGGGAGCCTCT 0.577 NA 20 50 0 0 0.002299 0 0 DAB2IP 153090 broad.mit.edu 37 9 124536647 124536647 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:124536647A>T uc004bln.2 + 13 3061 c.2992A>T c.(2992-2994)AGG>TGG p.R998W DAB2IP_uc004blo.2_Missense_Mutation_p.R902W|DAB2IP_uc004blp.2_Missense_Mutation_p.R431W NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 1026 Potential. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 CCCCCCCCACAGGGATAGGCT 0.637 NA 4 24 0 0 0.009096 0 0 OR1L1 26737 broad.mit.edu 37 9 125424280 125424280 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:125424280G>T uc011lza.1 + 1 436 c.436G>T c.(436-438)GAG>TAG p.E146* NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, 146 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CTCTTACAGTGAGTGTCTGAC 0.433 NA 38 232 3.93418e-24 6.57732e-24 0.004289 1 0 OR1L1 26737 broad.mit.edu 37 9 125424286 125424286 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:125424286C>G uc011lza.1 + 1 442 c.442C>G c.(442-444)CTG>GTG p.L148V NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, 148 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CAGTGAGTGTCTGACCCAGAT 0.438 NA 17 258 0 0 0.007413 0 0 GARNL3 84253 broad.mit.edu 37 9 130111211 130111211 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:130111211G>T uc011mae.1 + 17 1841 c.1440G>T c.(1438-1440)GAG>GAT p.E480D GARNL3_uc011mad.1_Missense_Mutation_p.E458D NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 480 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 AGCCGTGGGAGCCCCAGTGTT 0.522 NA 25 43 3.28513e-13 4.80968e-13 0.003954 1 0 FAM102A 399665 broad.mit.edu 37 9 130710649 130710649 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:130710649C>T uc004bsx.1 - 5 538 c.459G>A c.(457-459)AAG>AAA p.K153K FAM102A_uc004bsw.1_Silent_p.K11K|FAM102A_uc004bsy.1_5'Flank NM_001035254 NP_001030331 Q5T9C2 F102A_HUMAN early estrogen-induced gene 1 protein isoform a 153 ovary(1) 1 GCACTCACGTCTTGAAGCAGG 0.617 NA 18 54 0 0 0.008871 0 0 SPTAN1 6709 broad.mit.edu 37 9 131343323 131343323 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:131343323G>C uc004bvl.3 + 11 1559 c.1446G>C c.(1444-1446)TGG>TGC p.W482C SPTAN1_uc011mbg.1_Missense_Mutation_p.W482C|SPTAN1_uc011mbh.1_Missense_Mutation_p.W494C|SPTAN1_uc004bvm.3_Missense_Mutation_p.W482C|SPTAN1_uc004bvn.3_Missense_Mutation_p.W482C NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 482 Spectrin 6. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGGACAACTGGATGAGCAAGC 0.572 NSCLC(120;833 1744 2558 35612 37579) NA 12 94 0 0 0.001855 0 0 FAM78A 286336 broad.mit.edu 37 9 134136376 134136376 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:134136376C>A uc004cak.2 - 2 1025 c.685G>T c.(685-687)GCC>TCC p.A229S FAM78A_uc004caj.2_Missense_Mutation_p.A226S NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN hypothetical protein LOC286336 229 ovary(1) 1 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) CGCAGCCGGGCGCGCTGGCCC 0.652 NA 23 66 1.9806e-07 2.52685e-07 0.002299 1 0 ARSF 416 broad.mit.edu 37 X 2994711 2994711 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:2994711G>T uc004cre.1 + 4 504 c.283_splice c.e4+1 p.G95_splice ARSF_uc004crf.1_Splice_Site_p.G95_splice NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 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) ATCCGATCAGGTGCGCAAACT 0.547 NA 5 17 1.23904e-05 1.46662e-05 0.000602 1 0 PIGA 5277 broad.mit.edu 37 X 15349879 15349879 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:15349879C>A uc004cwr.2 - 2 274 c.174G>T c.(172-174)CAG>CAT p.Q58H PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Missense_Mutation_p.Q58H|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Missense_Mutation_p.Q58H NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 58 Cytoplasmic (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) CAATCAGGCACTGAGAGAGCT 0.428 NA 22 36 4.35082e-09 5.81652e-09 0.010504 1 0 MAGEB6 158809 broad.mit.edu 37 X 26212607 26212607 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:26212607C>A uc004dbr.2 + 2 793 c.644C>A c.(643-645)TCC>TAC p.S215Y MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 215 MAGE. ovary(3) 3 AAGAAAGAGTCCATTTTGAAG 0.468 NA 17 58 1.33834e-09 1.8052e-09 0.007413 1 0 MAGEB1 4112 broad.mit.edu 37 X 30269404 30269404 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:30269404C>A uc004dcc.2 + 4 1114 c.794C>A c.(793-795)CCC>CAC p.P265H MAGEB1_uc004dcd.2_Missense_Mutation_p.P265H|MAGEB1_uc004dce.2_Missense_Mutation_p.P265H NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 265 MAGE. 0 AACAGTGATCCCCCACGCTAT 0.507 NA 24 33 4.26978e-12 6.12055e-12 0.00333 1 0 CXorf22 170063 broad.mit.edu 37 X 35974241 35974241 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:35974241G>T uc004ddj.2 + 8 1397 c.1338G>T c.(1336-1338)ACG>ACT p.T446T CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 446 large_intestine(1)|lung(1)|ovary(1) 3 TTCCTGTGACGTACCACTTTA 0.353 NA 14 33 4.3838e-07 5.49981e-07 0.001855 1 0 CCNB3 85417 broad.mit.edu 37 X 50094639 50094639 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:50094639G>T uc004dox.3 + 13 4423 c.4125G>T c.(4123-4125)TTG>TTT p.L1375F CCNB3_uc004doy.2_Missense_Mutation_p.L1375F|CCNB3_uc004doz.2_Missense_Mutation_p.L271F|CCNB3_uc010njq.2_Missense_Mutation_p.L267F|CCNB3_uc004dpa.2_Missense_Mutation_p.L214F NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1375 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TCCCTGCCTTGGATATGTTGA 0.483 NA 10 21 0.00829132 0.00867081 0.008291 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912812 77912812 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:77912812A>G uc004edc.1 - 2 1402 c.1106T>C c.(1105-1107)ATA>ACA p.I369T NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 369 nucleic acid binding|zinc ion binding ovary(1) 1 TTCATCTTGTATAGAACTGGC 0.488 NA 19 32 0 0 0.001882 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132808 91132808 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:91132808T>A uc004efk.1 + 2 2414 c.1569T>A c.(1567-1569)ACT>ACA p.T523T PCDH11X_uc004efl.1_Silent_p.T523T|PCDH11X_uc004efo.1_Silent_p.T523T|PCDH11X_uc010nmv.1_Silent_p.T523T|PCDH11X_uc004efm.1_Silent_p.T523T|PCDH11X_uc004efn.1_Silent_p.T523T|PCDH11X_uc004efh.1_Silent_p.T523T|PCDH11X_uc004efj.1_Silent_p.T523T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 523 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GCATGCTGACTGTAGTGAAGA 0.438 NSCLC(38;925 1092 2571 38200 45895) NA 10 32 0 0 0.006214 0 0 TRMT2B 79979 broad.mit.edu 37 X 100292981 100292981 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:100292981G>C uc004egq.2 - 4 662 c.363C>G c.(361-363)CTC>CTG p.L121L TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.L121L|TRMT2B_uc004egs.2_Silent_p.L121L|TRMT2B_uc004egt.2_Silent_p.L121L|TRMT2B_uc004egu.2_Silent_p.L2L|TRMT2B_uc004egv.2_Intron NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 121 tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 TGACTCCATTGAGCATTTGGA 0.398 NA 70 150 0 0 0.00361 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004718 102004718 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:102004718C>T uc010nog.2 + 4 1366 c.795C>T c.(793-795)TGC>TGT p.C265C BHLHB9_uc011mrq.1_Silent_p.C265C|BHLHB9_uc011mrr.1_Silent_p.C265C|BHLHB9_uc011mrs.1_Silent_p.C265C|BHLHB9_uc011mrt.1_Silent_p.C265C|BHLHB9_uc004ejo.2_Silent_p.C265C|BHLHB9_uc011mru.1_Silent_p.C265C|BHLHB9_uc011mrv.1_Silent_p.C265C NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 265 cytoplasm|nucleus binding ovary(2) 2 CAACAGCTTGCCGCCCTTCTA 0.502 NA 15 35 0 0 0.00245 0 0 IRS4 8471 broad.mit.edu 37 X 107977627 107977627 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:107977627C>A uc004eoc.2 - 1 1981 c.1948G>T c.(1948-1950)GGG>TGG p.G650W NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 650 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 AATCTTCCCCCAGACTTCCCT 0.498 NA 57 131 4.54978e-40 7.94106e-40 0.00361 1 0 RGAG1 57529 broad.mit.edu 37 X 109695399 109695399 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:109695399A>G uc004eor.1 + 3 1800 c.1554A>G c.(1552-1554)ACA>ACG p.T518T RGAG1_uc011msr.1_Silent_p.T518T NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 518 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TTACGGCAACAGCCTCTGAAA 0.512 NA 42 91 0 0 0.007835 0 0 FAM70A 55026 broad.mit.edu 37 X 119410766 119410766 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:119410766C>T uc004eso.3 - 8 948 c.721G>A c.(721-723)GCT>ACT p.A241T FAM70A_uc004esp.3_Missense_Mutation_p.A217T|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 241 Helical; (Potential). integral to membrane lung(1)|breast(1) 2 CCAAGGACAGCGGCAGTGATG 0.527 NA 9 49 0 0 0.006214 0 0 FAM70A 55026 broad.mit.edu 37 X 119410810 119410810 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:119410810G>A uc004eso.3 - 8 904 c.677C>T c.(676-678)ACC>ATC p.T226I FAM70A_uc004esp.3_Missense_Mutation_p.T202I|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 226 Helical; (Potential). integral to membrane lung(1)|breast(1) 2 GTTGAGGATGGTGGCAGACCA 0.507 NA 32 50 0 0 0.002836 0 0 ODZ1 10178 broad.mit.edu 37 X 123785874 123785874 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:123785874G>T uc004euj.2 - 8 1533 c.1469C>A c.(1468-1470)TCG>TAG p.S490* ODZ1_uc011muj.1_Nonsense_Mutation_p.S489*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.S490* NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 490 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CTCCTGAAGCGAAGTTAAGAT 0.428 NA 27 45 1.08971e-26 1.85892e-26 0.00632 1 0 RAB39B 116442 broad.mit.edu 37 X 154490296 154490296 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:154490296T>C uc004fne.2 - 2 713 c.434A>G c.(433-435)TAC>TGC p.Y145C NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 145 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 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) CTTCATGCCGTATGCAGCAGC 0.498 NA 35 27 0 0 0.002445 0 0 SNX7 51375 broad.mit.edu 37 1 99156727 99156727 + Frame_Shift_Del DEL A A - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:99156727delA uc010ouc.1 + 3 512 c.460delA c.(460-462)ACTfs p.T154fs SNX7_uc001dsa.2_Frame_Shift_Del_p.T90fs|SNX7_uc010oud.1_Frame_Shift_Del_p.T154fs NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a 90 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) AGCACACCCCACTCTGATTAT 0.373 NA 15 39 --- --- --- --- NA NA NA NA NA ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 CCA CCA - - CCA CCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:100635008_100635010delCCA uc001von.2 + 1 690_692 c.690_692delCCA c.(688-693)GCCCAC>GCC p.H239del NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 239 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His. Missing.|H -> HH. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.522 Pancreas(97;119 1522 31925 44771 48764) NA 7 56 --- --- --- --- NA NA NA NA NA BAIAP3 8938 broad.mit.edu 37 16 1395754 1395754 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:1395754delC uc002clk.1 + 23 2176 c.2176delC c.(2176-2178)CCCfs p.P726fs BAIAP3_uc002clj.2_Frame_Shift_Del_p.P708fs|BAIAP3_uc010uuz.1_Frame_Shift_Del_p.P691fs|BAIAP3_uc010uva.1_Frame_Shift_Del_p.P663fs|BAIAP3_uc010uvc.1_Frame_Shift_Del_p.P655fs NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 726 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) cTAGCTGGAGCCCGTGGACGC 0.373 NA 2 4 --- --- --- --- NA NA NA NA NA MUC16 94025 broad.mit.edu 37 19 9046473 9046473 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:9046473delC uc002mkp.2 - 5 35362 c.35158delG c.(35158-35160)GCCfs p.A11720fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11722 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGACTGGTGGCCATTACAGGT 0.517 NA 55 118 --- --- --- --- NA NA NA NA NA MUC16 94025 broad.mit.edu 37 19 9087356 9087357 + Frame_Shift_Ins INS - - A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:9087356_9087357insA uc002mkp.2 - 1 4662_4663 c.4458_4459insT c.(4456-4461)TTTGCTfs p.F1486fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1486_1487 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGAAAAATAGCAAATGTACTCA 0.431 NA 55 158 --- --- --- --- NA NA NA NA NA ADAM23 8745 broad.mit.edu 37 2 207431999 207431999 + Frame_Shift_Del DEL T T - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:207431999delT uc002vbq.2 + 15 1670 c.1447delT c.(1447-1449)TTTfs p.F483fs ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 483 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GTATAGAGACTTTTTACAGAG 0.358 Melanoma(194;1127 2130 19620 24042 27855) NA 41 96 --- --- --- --- NA NA NA NA NA CRMP1 1400 broad.mit.edu 37 4 5862865 5862865 + Frame_Shift_Del DEL G G - rs145307270 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:5862865delG uc003gip.2 - 4 302 c.201delC c.(199-201)CCCfs p.P67fs CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Frame_Shift_Del_p.P67fs|CRMP1_uc003gir.2_Frame_Shift_Del_p.P62fs|CRMP1_uc003gis.2_Frame_Shift_Del_p.P181fs NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 67 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) CAATACCTCCGGGAATAACCA 0.552 NA 14 117 --- --- --- --- NA NA NA NA NA EEF1E1 9521 broad.mit.edu 37 6 8097553 8097553 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:8097553delC uc003mxz.2 - 2 309 c.235delG c.(235-237)GTCfs p.V79fs EEF1E1_uc011dic.1_Frame_Shift_Del_p.V79fs NM_004280 NP_004271 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 79 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus 0 Ovarian(93;0.0398) ACTTGAGTGACCCTGTATTCT 0.418 NA 46 221 --- --- --- --- NA NA NA NA NA HIST1H3E 8353 broad.mit.edu 37 6 26225624 26225624 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:26225624delC uc003nhb.2 + 2 602 c.242delC c.(241-243)ACCfs p.T81fs HIST1H3E_uc003nhc.3_Frame_Shift_Del_p.T81fs NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 81 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GACTTCAAGACCGACCTGCGC 0.592 NA 14 82 --- --- --- --- NA NA NA NA NA FOXP2 93986 broad.mit.edu 37 7 114282627 114282627 + Frame_Shift_Del DEL A A - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:114282627delA uc003vhb.2 + 7 1312 c.938delA c.(937-939)CATfs p.H313fs FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Frame_Shift_Del_p.H338fs|FOXP2_uc003vha.2_Frame_Shift_Del_p.H221fs|FOXP2_uc011kmu.1_Frame_Shift_Del_p.H330fs|FOXP2_uc011kmv.1_Frame_Shift_Del_p.H312fs|FOXP2_uc010ljz.1_Frame_Shift_Del_p.H221fs|FOXP2_uc003vgx.2_Frame_Shift_Del_p.H313fs|FOXP2_uc003vhd.2_Frame_Shift_Del_p.H313fs|FOXP2_uc003vhc.2_Frame_Shift_Del_p.H338fs NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 313 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 CCAATAACTCATCATTCCATA 0.388 NA 18 161 --- --- --- --- NA NA NA NA NA KCND2 3751 broad.mit.edu 37 7 120382616 120382616 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:120382616delC uc003vjj.1 + 4 2392 c.1427delC c.(1426-1428)ACCfs p.T476fs NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 476 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.T476T(1) ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) AGCTTTGAAACCCAGCACCAC 0.453 NA 24 141 --- --- --- --- NA NA NA NA NA ZFHX4 79776 broad.mit.edu 37 8 77618211 77618211 + Frame_Shift_Del DEL G G - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:77618211delG uc003yav.2 + 2 2275 c.1888delG c.(1888-1890)GGTfs p.G630fs ZFHX4_uc003yat.1_Frame_Shift_Del_p.G630fs|ZFHX4_uc003yau.1_Frame_Shift_Del_p.G630fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.G630fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 630 C2H2-type 1. 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) GTCTCTTGGTGGTCATATGAC 0.527 NA HNSCC(33;0.089) 23 50 --- --- --- --- NA NA NA NA NA