Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CHD5 26038 broad.mit.edu 37 1 6172998 6172998 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:6172998C>A uc001amb.1 - 34 5073 c.4973G>T c.(4972-4974)AGC>ATC p.S1658I CHD5_uc001alz.1_Missense_Mutation_p.S515I|CHD5_uc001ama.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1658 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTCCCCTCTGCTGTGGATCAA 0.592 NA 32 65 1.46e-13 1.96e-13 1 0 PTCHD2 57540 broad.mit.edu 37 1 11562935 11562935 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:11562935C>T uc001ash.3 + 3 1435 c.1297C>T c.(1297-1299)CTG>TTG p.L433L PTCHD2_uc001asi.1_Silent_p.L433L NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 433 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CGTGGCCATGCTGGCCAAGCA 0.522 NA 3 54 0 0 0 0 C1orf64 149563 broad.mit.edu 37 1 16332707 16332707 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:16332707C>T uc001axn.2 + 2 444 c.376C>T c.(376-378)CCG>TCG p.P126S NM_178840 NP_849162 Q8NEQ6 CA064_HUMAN hypothetical protein LOC149563 126 breast(2) 2 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) CCCAGTCAGCCCGCTCTGCCC 0.647 NA 20 35 0 0 0 0 EPHA8 2046 broad.mit.edu 37 1 22927549 22927549 + Silent SNP T T C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:22927549T>C uc001bfx.1 + 15 2822 c.2697T>C c.(2695-2697)CCT>CCC p.P899P NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 899 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCGCAGCCCTGAGAGTCTCA 0.647 NA 3 87 0 0 0 0 NCDN 23154 broad.mit.edu 37 1 36028893 36028893 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:36028893G>C uc001bza.2 + 6 1603 c.1476G>C c.(1474-1476)AAG>AAC p.K492N NCDN_uc001bzb.2_Missense_Mutation_p.K492N|NCDN_uc001bzc.2_Missense_Mutation_p.K475N NM_001014839 NP_001014839 Q9UBB6 NCDN_HUMAN neurochondrin isoform 1 492 neuron projection development cytosol|dendrite|neuronal cell body large_intestine(2)|pancreas(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTCTGTGCAAGTATTTCCTGC 0.622 NA 31 81 0 0 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879476 39879476 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:39879476C>G uc009vvt.1 + 1 4301 c.3539C>G c.(3538-3540)GCA>GGA p.A1180G MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 1044 Ala-rich. 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCCACCCCAGCAGAATCTGCC 0.662 NA 16 38 0 0 0 0 C8A 731 broad.mit.edu 37 1 57341807 57341807 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:57341807G>A uc001cyo.2 + 4 521 c.389G>A c.(388-390)TGT>TAT p.C130Y NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 130 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 GAGGACGACTGTGAAGATGTC 0.542 NA 16 38 0 0 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76779616 76779616 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:76779616C>A uc001dhh.2 + 2 308 c.145C>A c.(145-147)CCA>ACA p.P49T ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.P49T|ST6GALNAC3_uc010orh.1_Intron NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 49 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 AAAGTGGATACCATTCTCCTA 0.453 NA 32 62 2.08e-15 2.87e-15 1 0 SYDE2 84144 broad.mit.edu 37 1 85647842 85647842 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:85647842C>T uc009wcm.2 - 3 2532 c.2483G>A c.(2482-2484)GGA>GAA p.G828E SYDE2_uc001dku.3_Missense_Mutation_p.G828E NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 828 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) CACCATCAGTCCTATATTTTC 0.348 NA 3 16 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103354187 103354187 + Splice_Site SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:103354187C>A uc001dul.2 - 62 4873 c.4555_splice c.e62-1 p.G1519_splice COL11A1_uc001duk.2_Splice_Site_p.G715_splice|COL11A1_uc001dum.2_Splice_Site_p.G1531_splice|COL11A1_uc001dun.2_Splice_Site_p.G1480_splice|COL11A1_uc009weh.2_Splice_Site_p.G1403_splice NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGCGGGTCCCTGTTAGAAAG 0.423 NA 14 41 1.36e-06 1.61e-06 1 0 COL11A1 1301 broad.mit.edu 37 1 103471395 103471395 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:103471395C>A uc001dul.2 - 18 2162 c.1844G>T c.(1843-1845)AGG>ATG p.R615M COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.R627M|COL11A1_uc001dun.2_Missense_Mutation_p.R576M|COL11A1_uc009weh.2_Missense_Mutation_p.R499M NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 615 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTATCTTACCCTGTGACCTTT 0.289 NA 26 64 2.13e-12 2.83e-12 1 0 KCNT2 343450 broad.mit.edu 37 1 196295982 196295982 + Missense_Mutation SNP T T C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:196295982T>C uc001gtd.1 - 19 2201 c.2141A>G c.(2140-2142)TAT>TGT p.Y714C KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Missense_Mutation_p.Y664C|KCNT2_uc001gtf.1_Missense_Mutation_p.Y714C|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.Y714C|KCNT2_uc001gth.1_Missense_Mutation_p.Y235C NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 714 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTTGAATCCATAGGCTTTTGC 0.318 NA 22 55 0 0 0 0 TGFB2 7042 broad.mit.edu 37 1 218614596 218614596 + Nonsense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:218614596C>A uc001hlm.2 + 7 1790 c.1137C>A c.(1135-1137)TGC>TGA p.C379* TGFB2_uc001hln.2_Nonsense_Mutation_p.C407*|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 379 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) CTTCTCCTTGCTGCGTGTCCC 0.403 NA 28 59 4.88e-14 6.59e-14 1 0 RYR2 6262 broad.mit.edu 37 1 237838057 237838057 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:237838057C>A uc001hyl.1 + 60 8861 c.8741C>A c.(8740-8742)ACG>AAG p.T2914K RYR2_uc010pxz.1_5'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2914 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4. 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) GAACTGGACACGCCTTCTATT 0.408 NA 5 16 0.00116845 0.00125704 1 0 C10orf47 254427 broad.mit.edu 37 10 11911812 11911812 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr10:11911812G>T uc001ikx.2 + 4 869 c.715G>T c.(715-717)GGC>TGC p.G239C uc001iky.1_Intron NM_153256 NP_694988 Q86WR7 CJ047_HUMAN hypothetical protein LOC254427 239 Pro-rich. central_nervous_system(1) 1 TGGAGACCCTGGCCCGGGGCC 0.766 NA 9 14 3.1e-07 3.71e-07 1 0 HSPA14 51182 broad.mit.edu 37 10 14894529 14894529 + Nonsense_Mutation SNP A A T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr10:14894529A>T uc001inf.2 + 8 874 c.733A>T c.(733-735)AGA>TGA p.R245* NM_016299 NP_057383 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 isoform 1 245 'de novo' cotranslational protein folding cytosol ATP binding|protein binding ovary(2)|breast(2)|lung(1) 5 TGAGTTCCAAAGGTGAGTGTT 0.358 NA 30 61 0 0 0 0 SLC39A12 221074 broad.mit.edu 37 10 18331685 18331685 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr10:18331685C>A uc001ipo.2 + 13 2272 c.1999C>A c.(1999-2001)CTG>ATG p.L667M SLC39A12_uc001ipn.2_Missense_Mutation_p.L630M|SLC39A12_uc001ipp.2_Missense_Mutation_p.L666M|SLC39A12_uc010qck.1_Missense_Mutation_p.L533M NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 667 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GATGTTTCTCCTGCAAAACTT 0.353 NA 16 61 6.94e-10 8.89e-10 1 0 RASGEF1A 221002 broad.mit.edu 37 10 43691705 43691705 + Missense_Mutation SNP A A T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr10:43691705A>T uc001jap.1 - 13 1514 c.1433T>A c.(1432-1434)CTG>CAG p.L478Q RASGEF1A_uc001jao.1_Missense_Mutation_p.L486Q NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 478 cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 GGCTCTGTTCAGAAGGGTGGT 0.597 NA 27 66 0 0 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648784 62648784 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr10:62648784C>T uc001jli.2 - 7 1080 c.642G>A c.(640-642)CTG>CTA p.L214L RHOBTB1_uc001jlh.2_Silent_p.L214L|RHOBTB1_uc001jlj.2_Silent_p.L214L|RHOBTB1_uc001jlk.2_Silent_p.L214L|RHOBTB1_uc009xpe.1_Silent_p.L152L|RHOBTB1_uc001jll.2_5'UTR NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 214 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) TCCAGAATTGCAGGTGCCTGC 0.473 NA 64 229 0 0 0 0 SFTPA2 729238 broad.mit.edu 37 10 81319105 81319105 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr10:81319105G>T uc001kal.3 - 3 232 c.135C>A c.(133-135)GAC>GAA p.D45E SFTPA2_uc001kan.3_Missense_Mutation_p.D45E|SFTPA2_uc001kam.2_RNA NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 45 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CATCTCTCCCGTCCCTGCCTG 0.622 NA Pulmonary_Fibrosis_Idiopathic 28 142 2.68e-12 3.57e-12 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357567 118357567 + Missense_Mutation SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr10:118357567A>G uc001lco.1 + 8 721 c.703A>G c.(703-705)ACG>GCG p.T235A PNLIPRP1_uc001lcp.2_Missense_Mutation_p.T235A NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 235 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AGGTTTTGGAACGAACCAACA 0.463 NA 23 15 0 0 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135099030 135099030 + Missense_Mutation SNP C C T rs142228780 byFrequency TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr10:135099030C>T uc001lmg.1 - 12 2182 c.1825G>A c.(1825-1827)GCG>ACG p.A609T TUBGCP2_uc001lmf.1_Missense_Mutation_p.A202T|TUBGCP2_uc010qvc.1_Missense_Mutation_p.A637T|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Missense_Mutation_p.A479T|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 609 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CCGCTCAGCGCCAGCTCCGTG 0.642 NA 20 19 0 0 0 0 OR56B1 387748 broad.mit.edu 37 11 5758676 5758676 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:5758676C>T uc001mbt.1 + 1 930 c.930C>T c.(928-930)GCC>GCT p.A310A TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TTAGGGCAGCCTTCCAAAAGG 0.418 NA 44 107 0 0 0 0 OR56A1 120796 broad.mit.edu 37 11 6048915 6048915 + Nonsense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:6048915G>T uc010qzw.1 - 1 20 c.20C>A c.(19-21)TCA>TAA p.S7* NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTGCTGGGTGACGCCATAGG 0.488 NA 38 101 1.47e-15 2.03e-15 1 0 SLC5A12 159963 broad.mit.edu 37 11 26725200 26725200 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:26725200G>A uc001mra.2 - 6 1012 c.699C>T c.(697-699)CTC>CTT p.L233L SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.L233L NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 233 Extracellular (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 TGTGTCGCCTGAGAGGATCTA 0.403 NA 29 49 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136945 40136945 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:40136945G>C uc001mxa.1 - 2 2862 c.898C>G c.(898-900)CAC>GAC p.H300D LRRC4C_uc001mxc.1_Missense_Mutation_p.H296D|LRRC4C_uc001mxd.1_Missense_Mutation_p.H296D|LRRC4C_uc001mxb.1_Missense_Mutation_p.H296D NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 300 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) CAAGGGTTGTGATGTAAATGT 0.478 NA 32 62 0 0 0 0 PRDM11 56981 broad.mit.edu 37 11 45241231 45241231 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:45241231G>A uc001myo.2 + 7 1016 c.767G>A c.(766-768)CGG>CAG p.R256Q NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 256 SET. upper_aerodigestive_tract(1) 1 GAGTGGCTGCGGGTCTGGTAC 0.622 NA 11 29 0 0 0 0 OR4A15 81328 broad.mit.edu 37 11 55136211 55136211 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:55136211C>A uc010rif.1 + 1 852 c.852C>A c.(850-852)TTC>TTA p.F284L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 284 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCTGTATCTTCTTGTATGCAA 0.408 NA 51 214 5.39e-20 7.63e-20 1 0 POLA2 23649 broad.mit.edu 37 11 65048604 65048604 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:65048604C>G uc001odj.2 + 8 1228 c.886C>G c.(886-888)CTG>GTG p.L296V POLA2_uc010rod.1_Missense_Mutation_p.L88V|POLA2_uc001odk.2_5'UTR NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 296 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) GGAATATTCTCTGTTTCCTGG 0.517 NA 36 122 0 0 0 0 ADRBK1 156 broad.mit.edu 37 11 67051732 67051732 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:67051732G>A uc009yrn.1 + 18 1808 c.1542G>A c.(1540-1542)TCG>TCA p.S514S ADRBK1_uc009yrm.1_Intron NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 514 AGC-kinase C-terminal. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TCACCATCTCGGAGCGGTGGC 0.592 NA 49 78 0 0 0 0 NCAM1 4684 broad.mit.edu 37 11 113076802 113076802 + Silent SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:113076802C>A uc009yyq.1 + 5 868 c.174C>A c.(172-174)ATC>ATA p.I58I NCAM1_uc001pno.2_Silent_p.I58I NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 176 Ig-like C2-type 2.|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) ACCTGCAGATCCGGGGCATCA 0.507 NA 25 153 5.35e-11 7.01e-11 1 0 ZW10 9183 broad.mit.edu 37 11 113639651 113639651 + Missense_Mutation SNP T T A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:113639651T>A uc001poe.2 - 2 181 c.144A>T c.(142-144)GAA>GAT p.E48D ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 48 Interaction with RINT1.|Interaction with ZWINT.|Potential. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TAGGCAGGAATTCACTGTACT 0.403 NA 62 66 0 0 0 0 CEP164 22897 broad.mit.edu 37 11 117282544 117282544 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:117282544G>A uc001prc.2 + 32 4344 c.4197G>A c.(4195-4197)TCG>TCA p.S1399S CEP164_uc001prb.2_Silent_p.S1394S|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1399 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 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;4e-05)|Epithelial(105;0.0008) ACTCCCATTCGCAAGTCCCTG 0.582 NA 5 120 0 0 0 0 NTM 50863 broad.mit.edu 37 11 132016264 132016264 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:132016264C>T uc001qgp.2 + 2 920 c.256C>T c.(256-258)CCT>TCT p.P86S NTM_uc001qgm.2_Missense_Mutation_p.P86S|NTM_uc010sch.1_Missense_Mutation_p.P77S|NTM_uc010sci.1_Missense_Mutation_p.P86S|NTM_uc010scj.1_Missense_Mutation_p.P45S|NTM_uc001qgo.2_Missense_Mutation_p.P86S|NTM_uc001qgq.2_Missense_Mutation_p.P86S NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 86 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GTGCCTGGATCCTCGCGTGGT 0.572 NA 21 71 0 0 0 0 DYRK4 8798 broad.mit.edu 37 12 4721873 4721873 + Missense_Mutation SNP C C G rs141423818 by1000genomes TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:4721873C>G uc001qmx.2 + 12 1470 c.1310C>G c.(1309-1311)TCG>TGG p.S437W DYRK4_uc009zeh.1_Missense_Mutation_p.S552W|DYRK4_uc001qmy.1_Missense_Mutation_p.S437W|DYRK4_uc001qmz.1_Missense_Mutation_p.S151W|DYRK4_uc001qna.1_Missense_Mutation_p.S74W|DYRK4_uc010ser.1_Missense_Mutation_p.S74W NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 437 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) TGTCATCACTCGAGCAGAAAA 0.468 NA 42 49 0 0 0 0 TPI1 7167 broad.mit.edu 37 12 6976735 6976735 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:6976735C>T uc001qrk.2 + 1 43 c.5C>T c.(4-6)GCG>GTG p.A2V TPI1_uc010sfo.1_5'Flank NM_000365 NP_000356 P60174 TPIS_HUMAN triosephosphate isomerase 1 isoform 1 2 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity 0 AGCGCCATGGCGCCCTCCAGG 0.597 NA 8 18 0 0 0 0 PRB1 5542 broad.mit.edu 37 12 11506584 11506584 + Silent SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:11506584G>T uc001qzw.1 - 3 490 c.453C>A c.(451-453)CCC>CCA p.P151P PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 212 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) GAGGAGATCAGGGACTTCGGG 0.612 NA 142 552 6.52e-42 9.53e-42 1 0 ARID2 196528 broad.mit.edu 37 12 46215209 46215209 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:46215209G>T uc001ros.1 + 6 644 c.644G>T c.(643-645)GGA>GTA p.G215V ARID2_uc001ror.2_Missense_Mutation_p.G215V NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 215 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTAGCTTTAGGATCCTTTTCC 0.254 NA 13 56 9.05e-12 1.2e-11 1 0 SDR9C7 121214 broad.mit.edu 37 12 57323300 57323300 + Missense_Mutation SNP T T C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:57323300T>C uc010sqw.1 - 3 598 c.598A>G c.(598-600)ATT>GTT p.I200V NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 200 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 CCTGGCTCAATGATGCAGACT 0.552 NA 31 33 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57550688 57550688 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:57550688G>A uc001snd.2 + 10 2012 c.1546G>A c.(1546-1548)GGG>AGG p.G516R NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 516 EGF-like 3.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGGCAGTGACGGGAAGTCATG 0.657 NA 3 10 0 0 0 0 RBM19 9904 broad.mit.edu 37 12 114261056 114261056 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:114261056G>A uc009zwi.2 - 24 3000 c.2856C>T c.(2854-2856)GAC>GAT p.D952D RBM19_uc001tvn.3_Silent_p.D952D|RBM19_uc001tvm.2_Silent_p.D952D NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 952 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) GCTCCTCGCTGTCGCTGTCAC 0.637 NA 16 32 0 0 0 0 GPR109B 8843 broad.mit.edu 37 12 123200755 123200755 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:123200755C>T uc001ucy.3 - 1 685 c.530G>A c.(529-531)TGC>TAC p.C177Y GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 177 Extracellular (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) GAAGCTGATGCACACATTTGC 0.537 NA 29 53 0 0 0 0 DCLK1 9201 broad.mit.edu 37 13 36700222 36700222 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr13:36700222G>A uc001uvf.2 - 2 286 c.53C>T c.(52-54)GCG>GTG p.A18V NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 18 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTATCTCTGCGCCTTATCCCG 0.622 NA 25 41 0 0 0 0 SPERT 220082 broad.mit.edu 37 13 46288501 46288501 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr13:46288501G>T uc001van.1 + 3 1421 c.1341G>T c.(1339-1341)AGG>AGT p.R447S SPERT_uc001vao.2_Missense_Mutation_p.R411S NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 447 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) AGCCTAGCAGGGTCTGAGGCC 0.622 NA 6 7 3.6e-05 4.05e-05 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328994 88328994 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr13:88328994C>A uc001vln.2 + 2 1570 c.1351C>A c.(1351-1353)CGC>AGC p.R451S SLITRK5_uc010tic.1_Missense_Mutation_p.R210S NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 451 Extracellular (Potential).|LRR 8. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GATCCAGGACCGCGCTTTCGG 0.597 NA 35 21 9.66e-10 1.23e-09 1 0 GPC5 2262 broad.mit.edu 37 13 92345880 92345880 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr13:92345880G>C uc010tif.1 + 3 1131 c.765G>C c.(763-765)ATG>ATC p.M255I NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 255 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TCCTGAAGATGCAATACTGCC 0.552 NA 30 25 0 0 0 0 GPC5 2262 broad.mit.edu 37 13 93518663 93518663 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr13:93518663G>C uc010tif.1 + 8 2056 c.1690G>C c.(1690-1692)GTG>CTG p.V564L NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 564 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TCTGATAAGTGTGGTGATGTT 0.433 NA 55 31 0 0 0 0 FAM155A 728215 broad.mit.edu 37 13 107822853 107822853 + Nonsense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr13:107822853C>A uc001vql.2 - 3 1885 c.1369G>T c.(1369-1371)GAG>TAG p.E457* NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 457 integral to membrane binding skin(1) 1 CGTTACTCCTCATTGGTTGAG 0.522 NA 31 19 2.61e-14 3.54e-14 1 0 NPAS3 64067 broad.mit.edu 37 14 34243588 34243588 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:34243588C>A uc001wru.2 + 8 962 c.898C>A c.(898-900)CAC>AAC p.H300N NPAS3_uc001wrs.2_Missense_Mutation_p.H287N|NPAS3_uc001wrt.2_Missense_Mutation_p.H268N|NPAS3_uc001wrv.2_Missense_Mutation_p.H270N NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GTCGCTGTCCCACGGGAGGAC 0.498 NA 22 73 1.5e-11 1.97e-11 1 0 FSCB 84075 broad.mit.edu 37 14 44974135 44974135 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:44974135G>A uc001wvn.2 - 1 2365 c.2056C>T c.(2056-2058)CCA>TCA p.P686S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 686 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TCCTCAGCTGGTAGAGACTGA 0.597 NA 14 16 0 0 0 0 TRIM9 114088 broad.mit.edu 37 14 51464789 51464789 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:51464789G>A uc001wyx.3 - 7 2347 c.1582C>T c.(1582-1584)CTG>TTG p.L528L TRIM9_uc001wyy.2_Silent_p.L524L|TRIM9_uc001wyz.3_Silent_p.L528L NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 528 Fibronectin type-III. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) TGGAGGACCAGGGTCTTGCTG 0.552 NA 13 42 0 0 0 0 HIF1A 3091 broad.mit.edu 37 14 62204929 62204929 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:62204929G>A uc001xfq.2 + 10 1778 c.1374G>A c.(1372-1374)ACG>ACA p.T458T HIF1A_uc001xfr.2_Silent_p.T458T|HIF1A_uc001xfs.2_Silent_p.T459T NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit 458 ODD. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) CCGCTGAAACGCCAAAGCCAC 0.403 NA 49 81 0 0 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72175990 72175990 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:72175990G>A uc001xms.2 + 15 4228 c.3880G>A c.(3880-3882)GCG>ACG p.A1294T SIPA1L1_uc001xmt.2_Missense_Mutation_p.A1273T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A1273T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A1294T|SIPA1L1_uc010ttm.1_Missense_Mutation_p.A748T|SIPA1L1_uc001xmw.2_Missense_Mutation_p.A59T NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1294 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CTCCAGCAATGCGTCAAGTGC 0.483 NA 17 56 0 0 0 0 EML5 161436 broad.mit.edu 37 14 89088975 89088975 + Silent SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:89088975A>G uc001xxg.2 - 37 5172 c.4986T>C c.(4984-4986)GAT>GAC p.D1662D EML5_uc001xxf.2_Silent_p.D449D|EML5_uc001xxh.1_Silent_p.D793D|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_5'Flank NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1654 cytoplasm|microtubule ovary(3) 3 AACGAACACAATCTGTGGCTT 0.473 NA 23 55 0 0 0 0 RIN3 79890 broad.mit.edu 37 14 93151468 93151468 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:93151468G>A uc001yap.2 + 9 2756 c.2604G>A c.(2602-2604)AAG>AAA p.K868K RIN3_uc010auk.2_Silent_p.K530K|RIN3_uc001yaq.2_Silent_p.K793K|RIN3_uc001yas.1_Silent_p.K530K NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 868 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CTCTCAACAAGGCCCGGGCCT 0.662 NA 10 33 0 0 0 0 SERPINA1 5265 broad.mit.edu 37 14 94845935 94845935 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:94845935G>T uc001ycx.3 - 4 1192 c.931C>A c.(931-933)CAT>AAT p.H311N SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.H311N|SERPINA1_uc010aux.2_Missense_Mutation_p.H311N|SERPINA1_uc001ycy.3_Missense_Mutation_p.H311N|SERPINA1_uc010auy.2_Missense_Mutation_p.H311N|SERPINA1_uc001ycz.3_Missense_Mutation_p.H311N|SERPINA1_uc010auz.2_Missense_Mutation_p.H311N|SERPINA1_uc010ava.2_Missense_Mutation_p.H311N|SERPINA1_uc001ydb.3_Missense_Mutation_p.H311N|SERPINA1_uc010avb.2_Missense_Mutation_p.H311N|SERPINA1_uc001ydc.3_Missense_Mutation_p.H311N|SERPINA1_uc001yda.1_Missense_Mutation_p.H311N NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 311 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) TTGGGTAAATGTAAGCTGGCA 0.493 NA Alpha-1-Antitrypsin_Deficiency 30 80 5.6e-13 7.52e-13 1 0 SERPINA5 5104 broad.mit.edu 37 14 95054055 95054055 + Missense_Mutation SNP A A T rs144727156 byFrequency TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr14:95054055A>T uc001ydm.2 + 3 566 c.356A>T c.(355-357)AAC>ATC p.N119I SERPINA5_uc010ave.2_Missense_Mutation_p.N119I|SERPINA5_uc001ydn.1_Missense_Mutation_p.N119I NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 119 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CAGGAACTCAACCAGCCCAGA 0.567 NA 11 22 0 0 0 0 APBA2 321 broad.mit.edu 37 15 29346999 29346999 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr15:29346999C>T uc001zck.2 + 3 1119 c.912C>T c.(910-912)ACC>ACT p.T304T APBA2_uc010azj.2_Silent_p.T304T|APBA2_uc010uat.1_Silent_p.T304T|APBA2_uc001zcl.2_Silent_p.T304T|APBA2_uc010uas.1_Silent_p.T304T NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 304 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AGCCCAAGACCAGGACCCCAG 0.677 NA 5 24 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62167104 62167104 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr15:62167104C>A uc002agz.2 - 77 10459 c.10385G>T c.(10384-10386)GGA>GTA p.G3462V VPS13C_uc002aha.2_Missense_Mutation_p.G3419V|VPS13C_uc002ahb.1_Missense_Mutation_p.G3462V|VPS13C_uc002ahc.1_Missense_Mutation_p.G3419V NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3462 protein localization ovary(2) 2 GCTTCTCACTCCAATCACTAA 0.299 NA 13 18 1.96e-10 2.52e-10 1 0 GPR139 124274 broad.mit.edu 37 16 20043388 20043388 + Missense_Mutation SNP C C G rs140063049 byFrequency TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr16:20043388C>G uc002dgu.1 - 2 893 c.731G>C c.(730-732)CGC>CCC p.R244P GPR139_uc010vaw.1_Missense_Mutation_p.R151P NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 244 Helical; Name=6; (Potential). integral to membrane|plasma membrane ovary(2) 2 CATGATGATGCGGGGGGCCCA 0.542 NA 27 59 0 0 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20873495 20873496 + Missense_Mutation DNP GG GG TT TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr16:20873495_20873496GG>TT uc002dhz.2 - 2 506_507 c.365_366CC>AA c.(364-366)CCC>CAA p.P122Q ERI2_uc002dht.3_Intron NM_173475 NP_775746 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain 122 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm ovary(2) 2 GBM - Glioblastoma multiforme(48;0.249) GAAATTCTGTGGGGTCAACACA 0.485 NA 31 90 0 0 0 0 N4BP1 9683 broad.mit.edu 37 16 48595684 48595684 + Silent SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr16:48595684A>G uc002efp.2 - 2 1107 c.870T>C c.(868-870)TCT>TCC p.S290S NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 290 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) GCCTTTCTTCAGAATCAGAAA 0.408 NA 19 46 0 0 0 0 SLC12A4 6560 broad.mit.edu 37 16 67984561 67984561 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr16:67984561C>T uc002euz.2 - 11 1591 c.1450G>A c.(1450-1452)GAC>AAC p.D484N SLC12A4_uc010ceu.2_Missense_Mutation_p.D478N|SLC12A4_uc010vkh.1_Missense_Mutation_p.D453N|SLC12A4_uc010vki.1_Missense_Mutation_p.D484N|SLC12A4_uc010vkj.1_Missense_Mutation_p.D486N|SLC12A4_uc002eva.2_Missense_Mutation_p.D484N|SLC12A4_uc002evb.2_Intron NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 484 Cytoplasmic (Potential). cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) ACTCACTTGTCCCGGAGAACC 0.632 NA 3 15 0 0 0 0 ATP2C2 9914 broad.mit.edu 37 16 84492912 84492912 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr16:84492912C>T uc002fhx.2 + 23 2342 c.2253C>T c.(2251-2253)ACC>ACT p.T751T ATP2C2_uc010chj.2_Silent_p.T751T|ATP2C2_uc002fhy.2_Silent_p.T768T|ATP2C2_uc002fhz.2_Silent_p.T600T|ATP2C2_uc002fia.2_5'Flank NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 751 Helical; Name=6; (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 CTCTGTCCACCGTGTTCAACC 0.642 NA 26 73 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577142 7577143 + Nonsense_Mutation DNP CC CC AA TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr17:7577142_7577143CC>AA uc002gim.2 - 8 989_990 c.795_796GG>TT c.(793-798)CTGGGA>CTTTGA p.G266* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.G266*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.G134*|TP53_uc010cng.1_Nonsense_Mutation_p.G134*|TP53_uc002gii.1_Nonsense_Mutation_p.G134*|TP53_uc010cnh.1_Nonsense_Mutation_p.G266*|TP53_uc010cni.1_Nonsense_Mutation_p.G266*|TP53_uc002gij.2_Nonsense_Mutation_p.G266* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 266 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (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.G266E(45)|p.G266R(42)|p.G266V(31)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G262_S269delGNLLGRNS(2)|p.G266_E271delGRNSFE(2)|p.L265L(2)|p.G266T(1)|p.G266_N268delGRN(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.L265_R267delLGR(1)|p.L265_K305del41(1)|p.G266fs*4(1)|p.L265P(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) CTGTTCCGTCCCAGTAGATTAC 0.52 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 13 0 0 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8215500 8215500 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr17:8215500G>A uc002glc.2 + 2 264 c.143G>A c.(142-144)CGA>CAA p.R48Q ARHGEF15_uc002glb.1_Missense_Mutation_p.R48Q|ARHGEF15_uc002gld.2_Missense_Mutation_p.R48Q|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R48Q NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 48 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GAACTACCCCGAAACTCCAAT 0.632 NA 50 97 0 0 0 0 MYH1 4619 broad.mit.edu 37 17 10402040 10402040 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr17:10402040G>T uc002gmo.2 - 30 4178 c.4084C>A c.(4084-4086)CAG>AAG p.Q1362K uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1362 Potential. 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 ATTGCTCTCTGTAGCTCGGCC 0.592 NA 41 85 4.14e-20 5.88e-20 1 0 MYO15A 51168 broad.mit.edu 37 17 18067125 18067125 + Missense_Mutation SNP T T A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr17:18067125T>A uc010vxh.1 + 59 10098 c.9760T>A c.(9760-9762)TAT>AAT p.Y3254N MYO15A_uc010vxi.1_Missense_Mutation_p.Y518N|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_Missense_Mutation_p.Y243N|MYO15A_uc002gsl.2_Missense_Mutation_p.Y261N|MYO15A_uc010vxm.1_Missense_Mutation_p.Y176N|MYO15A_uc002gsm.1_Missense_Mutation_p.Y176N|MYO15A_uc010cpv.2_RNA NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3254 Tail.|FERM. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CTTCAATGAATATGTTATCTT 0.463 NA 7 17 0 0 0 0 PSMD11 5717 broad.mit.edu 37 17 30801833 30801833 + Silent SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr17:30801833A>G uc010cta.1 + 8 880 c.840A>G c.(838-840)GCA>GCG p.A280A PSMD11_uc010wbz.1_Silent_p.A280A|PSMD11_uc002hhm.2_Silent_p.A280A NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 280 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of 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 proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) TTCGGTATGCAGGGAGGCAGG 0.488 NA 3 47 0 0 0 0 IMP5 162540 broad.mit.edu 37 17 43922823 43922823 + Missense_Mutation SNP A A T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr17:43922823A>T uc010wka.1 + 1 551 c.551A>T c.(550-552)GAC>GTC p.D184V LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 184 Extracellular (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) CCCATCATCGACTACAACATG 0.637 NA 37 86 0 0 0 0 MED13 9969 broad.mit.edu 37 17 60028197 60028197 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr17:60028197G>T uc002izo.2 - 28 6357 c.6280C>A c.(6280-6282)CTT>ATT p.L2094I NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2094 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TTAAGAAAAAGGGGACACTGA 0.413 NA 4 72 0.00024832 0.000273308 1 0 TAF4B 6875 broad.mit.edu 37 18 23873435 23873435 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr18:23873435C>T uc002kvu.3 + 9 2261 c.1772C>T c.(1771-1773)TCA>TTA p.S591L TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.S596L NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 591 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) AAAATTCTGTCACTTCAAGCA 0.289 NA 9 13 0 0 0 0 TAF4B 6875 broad.mit.edu 37 18 23873440 23873440 + Nonsense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr18:23873440C>T uc002kvu.3 + 9 2266 c.1777C>T c.(1777-1779)CAA>TAA p.Q593* TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Nonsense_Mutation_p.Q598* NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 593 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) TCTGTCACTTCAAGCATCTCC 0.284 NA 10 14 0 0 0 0 CDH19 28513 broad.mit.edu 37 18 64172320 64172320 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr18:64172320C>G uc002lkc.1 - 12 2186 c.2048G>C c.(2047-2049)AGG>ACG p.R683T CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 683 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CAAAGACTGCCTGTATAGGCT 0.483 NA 47 56 0 0 0 0 MARCH2 51257 broad.mit.edu 37 19 8486776 8486776 + Missense_Mutation SNP G G A rs141281179 TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr19:8486776G>A uc002mjv.2 + 3 493 c.52G>A c.(52-54)GGC>AGC p.G18S MARCH2_uc002mjw.2_Missense_Mutation_p.G18S|MARCH2_uc002mjx.2_Missense_Mutation_p.G18S NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2 18 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TGACTGCTCCGGCAGCCCTGC 0.677 NA 22 67 0 0 0 0 OR7G2 390882 broad.mit.edu 37 19 9213869 9213869 + Silent SNP C C T rs141362700 TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr19:9213869C>T uc010xkk.1 - 1 114 c.114G>A c.(112-114)CTG>CTA p.L38L NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GATCCTCTATCAGTCCCAGGA 0.458 NA 20 42 0 0 0 0 RGL3 57139 broad.mit.edu 37 19 11510580 11510580 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr19:11510580G>T uc002mrp.2 - 16 1761 c.1697C>A c.(1696-1698)CCT>CAT p.P566H RGL3_uc002mrn.2_Missense_Mutation_p.P330H|RGL3_uc002mrm.2_Missense_Mutation_p.P330H|RGL3_uc002mro.2_Missense_Mutation_p.P572H NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 566 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 ACTGCCAGCAGGAGCATCTCT 0.667 NA 22 37 7.42e-09 9.23e-09 1 0 TMEM59L 25789 broad.mit.edu 37 19 18729276 18729276 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr19:18729276G>C uc002njy.3 + 7 961 c.874G>C c.(874-876)GCG>CCG p.A292P NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 292 Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 CCTGGTGACCGCGCCTGGCCA 0.667 NA 3 14 0 0 0 0 APLP1 333 broad.mit.edu 37 19 36362583 36362583 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr19:36362583C>T uc002oce.2 + 5 745 c.607C>T c.(607-609)CGT>TGT p.R203C APLP1_uc010xsz.1_Missense_Mutation_p.R164C|APLP1_uc002ocf.2_Missense_Mutation_p.R203C|APLP1_uc002ocg.2_Missense_Mutation_p.R106C|APLP1_uc010xta.1_Missense_Mutation_p.R197C NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 203 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 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) GGATCGGTTCCGTGGTGTGGA 0.637 NA 23 26 0 0 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52000164 52000164 + Missense_Mutation SNP G G T rs145034575 TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr19:52000164G>T uc002pwx.1 - 7 1625 c.1569C>A c.(1567-1569)GAC>GAA p.D523E SIGLEC12_uc002pww.1_Missense_Mutation_p.D405E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.D250E NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 523 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAGCGTTTGCGTCCTCCATGC 0.577 NA 27 34 3.65e-15 5.01e-15 1 0 DPRX 503834 broad.mit.edu 37 19 54135364 54135364 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr19:54135364C>A uc002qcf.1 + 1 55 c.4C>A c.(4-6)CCA>ACA p.P2T NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) TTAGAAGATGCCAGGCTCAGA 0.498 NA 36 49 1.08e-12 1.44e-12 1 0 RNASEH1 246243 broad.mit.edu 37 2 3598055 3598055 + Silent SNP G G A rs139176330 TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:3598055G>A uc002qxt.2 - 4 507 c.417C>T c.(415-417)TTC>TTT p.F139F RNASEH1_uc002qxs.2_Silent_p.F22F NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 139 RNase H. RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) AGACGACGACGAAGTCTCCTG 0.493 NA 4 123 0 0 0 0 VIT 5212 broad.mit.edu 37 2 37035846 37035846 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:37035846G>C uc002rpl.2 + 15 1842 c.1621G>C c.(1621-1623)GAG>CAG p.E541Q VIT_uc002rpm.2_Missense_Mutation_p.E519Q|VIT_uc010ezv.2_Missense_Mutation_p.E497Q|VIT_uc010ezw.2_Missense_Mutation_p.E498Q NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 526 VWFA 2. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) CAAAGAGTTTGAGATTTCCGA 0.582 NA 26 52 0 0 0 0 HEATR5B 54497 broad.mit.edu 37 2 37232867 37232867 + Nonsense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:37232867C>A uc002rpp.1 - 30 4909 c.4813G>T c.(4813-4815)GAG>TAG p.E1605* HEATR5B_uc010ezy.1_Nonsense_Mutation_p.E189* NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1605 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) ATGGGCTCCTCAGGTCTAGGG 0.408 NA 15 30 0.000308642 0.00033899 1 0 ZFP36L2 678 broad.mit.edu 37 2 43451842 43451842 + Silent SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:43451842C>A uc002rsv.3 - 2 1392 c.1101G>T c.(1099-1101)CCG>CCT p.P367P LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 367 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) TGCTGAGCTCCGGACCGAAGG 0.532 NA 9 16 0.00621372 0.00653748 1 0 EIF2AK3 9451 broad.mit.edu 37 2 88874652 88874652 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:88874652G>A uc002stc.3 - 13 2551 c.2349C>T c.(2347-2349)CAC>CAT p.H783H NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 783 Cytoplasmic (Potential).|Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GTTCAAAGGAGTGCCCCTCAT 0.453 NA 109 204 0 0 0 0 CNGA3 1261 broad.mit.edu 37 2 99012576 99012576 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:99012576C>A uc002syt.2 + 8 1360 c.943C>A c.(943-945)CAC>AAC p.H315N CNGA3_uc002syu.2_Missense_Mutation_p.H297N|CNGA3_uc010fij.2_Missense_Mutation_p.H319N NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 315 Helical; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 CATCATCATCCACTGGAATGC 0.478 NA 89 88 7.29e-57 1.07e-56 1 0 MAP4K4 9448 broad.mit.edu 37 2 102475479 102475479 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:102475479G>C uc002tbg.2 + 14 1472 c.1417G>C c.(1417-1419)GAA>CAA p.E473Q MAP4K4_uc002tbc.2_Missense_Mutation_p.E473Q|MAP4K4_uc002tbd.2_Missense_Mutation_p.E473Q|MAP4K4_uc002tbe.2_Missense_Mutation_p.E473Q|MAP4K4_uc002tbf.2_Missense_Mutation_p.E473Q|MAP4K4_uc010yvy.1_Missense_Mutation_p.E473Q|MAP4K4_uc002tbh.2_Missense_Mutation_p.E473Q|MAP4K4_uc002tbi.2_Missense_Mutation_p.E326Q|MAP4K4_uc010yvz.1_Missense_Mutation_p.E453Q|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.E369Q NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 473 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GCGACAGCTAGAAGAGGAGCA 0.502 NA 27 165 0 0 0 0 IL1A 3552 broad.mit.edu 37 2 113535595 113535595 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:113535595G>A uc002tig.2 - 6 1544 c.584C>T c.(583-585)GCC>GTC p.A195V NM_000575 NP_000566 P01583 IL1A_HUMAN interleukin 1, alpha proprotein 195 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding lung(1) 1 TTCATCTTGGGCAGTCACATA 0.388 NA 14 58 0 0 0 0 ZRANB3 84083 broad.mit.edu 37 2 136107559 136107559 + Nonsense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:136107559C>A uc002tum.2 - 5 703 c.586G>T c.(586-588)GAA>TAA p.E196* ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Nonsense_Mutation_p.E196*|ZRANB3_uc002tun.1_Nonsense_Mutation_p.E136* NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 196 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) AATACCTCTTCAGGCCTTCCT 0.408 NA 11 36 4.38e-07 5.23e-07 1 0 MBD5 55777 broad.mit.edu 37 2 149247953 149247953 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:149247953C>A uc002twm.3 + 12 5041 c.4053C>A c.(4051-4053)AGC>AGA p.S1351R MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.S1351R|MBD5_uc002two.2_Missense_Mutation_p.S609R|MBD5_uc002twp.2_Missense_Mutation_p.S401R NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1351 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) GTGTGCCTAGCCCTTCAGATG 0.408 NA 21 47 1.02e-10 1.32e-10 1 0 SLC4A10 57282 broad.mit.edu 37 2 162751316 162751316 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:162751316C>G uc002ubx.3 + 11 1506 c.1322C>G c.(1321-1323)CCC>CGC p.P441R SLC4A10_uc010fpa.1_Missense_Mutation_p.P453R|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.P411R|SLC4A10_uc010zcs.1_Missense_Mutation_p.P422R NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 441 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 ATAGAGCCTCCCAAAAATGTT 0.328 NA 18 57 0 0 0 0 G6PC2 57818 broad.mit.edu 37 2 169764237 169764237 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:169764237C>A uc002uem.2 + 5 808 c.716C>A c.(715-717)GCC>GAC p.A239D G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.A123D NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 239 Lumenal (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 GTGCCCATAGCCAAAAAGTGG 0.512 NA 30 59 8.17e-17 1.14e-16 1 0 LRP2 4036 broad.mit.edu 37 2 170129512 170129512 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:170129512C>A uc002ues.2 - 15 2254 c.2041G>T c.(2041-2043)GAT>TAT p.D681Y LRP2_uc010zdf.1_Missense_Mutation_p.D612Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 681 EGF-like 3.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCATCATTATCTGTTCTGTGG 0.463 NA 48 116 8e-19 1.13e-18 1 0 MYO3B 140469 broad.mit.edu 37 2 171259494 171259494 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:171259494G>A uc002ufy.2 + 19 2409 c.2266G>A c.(2266-2268)GCT>ACT p.A756T MYO3B_uc002ufv.2_Missense_Mutation_p.A743T|MYO3B_uc010fqb.1_Missense_Mutation_p.A743T|MYO3B_uc002ufz.2_Missense_Mutation_p.A756T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 756 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GCATGTTTTTGCTCTTGAGCA 0.398 NA 5 31 0 0 0 0 ZNF385B 151126 broad.mit.edu 37 2 180409678 180409678 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:180409678G>A uc002unn.3 - 4 876 c.272C>T c.(271-273)ACT>ATT p.T91I ZNF385B_uc002unj.2_5'UTR|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_5'UTR|ZNF385B_uc002unm.2_Missense_Mutation_p.T15I NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 91 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) AGGAAGGGTAGTAGTGTGGCA 0.448 NA 37 88 0 0 0 0 ITGA4 3676 broad.mit.edu 37 2 182395331 182395331 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:182395331G>C uc002unu.2 + 24 3382 c.2619G>C c.(2617-2619)TTG>TTC p.L873F ITGA4_uc002unv.2_Missense_Mutation_p.L118F NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 873 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGCAGACCTTGAAAGGCATAG 0.413 NA 23 48 0 0 0 0 COL3A1 1281 broad.mit.edu 37 2 189849935 189849935 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:189849935C>A uc002uqj.1 + 3 412 c.295C>A c.(295-297)CCT>ACT p.P99T NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 99 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TACTCGCCCTCCTAATGGTCA 0.343 NA 22 36 6.33e-13 8.47e-13 1 0 GTF3C3 9330 broad.mit.edu 37 2 197640813 197640813 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:197640813C>G uc002uts.2 - 12 1706 c.1616G>C c.(1615-1617)CGT>CCT p.R539P GTF3C3_uc010zgu.1_Missense_Mutation_p.R510P NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 539 transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 CAGAGTAGAACGATGAAGCAA 0.323 NA 23 51 0 0 0 0 ABI2 10152 broad.mit.edu 37 2 204255845 204255845 + Missense_Mutation SNP T T A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:204255845T>A uc002vaa.2 + 5 792 c.557T>A c.(556-558)ATG>AAG p.M186K ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Missense_Mutation_p.M180K|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.M180K|ABI2_uc010zij.1_Missense_Mutation_p.M124K|ABI2_uc002vab.2_Missense_Mutation_p.M135K|ABI2_uc010zik.1_Missense_Mutation_p.M21K|ABI2_uc010zil.1_Missense_Mutation_p.M21K|ABI2_uc010zim.1_Missense_Mutation_p.M21K|ABI2_uc002vac.2_Missense_Mutation_p.M21K NM_005759 NP_005750 Q9NYB9 ABI2_HUMAN abl interactor 2 186 Pro-rich. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding 0 AGTCCCCCTATGTCAGGGAAA 0.388 NA 5 22 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212530075 212530075 + Missense_Mutation SNP T T A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:212530075T>A uc002veg.1 - 15 1942 c.1844A>T c.(1843-1845)CAC>CTC p.H615L ERBB4_uc002veh.1_Missense_Mutation_p.H615L|ERBB4_uc010zji.1_Missense_Mutation_p.H615L|ERBB4_uc010zjj.1_Missense_Mutation_p.H615L|ERBB4_uc010fut.1_Missense_Mutation_p.H615L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 615 Extracellular (Potential).|Cys-rich. 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) ATGGCATGGGTGGCACTCCCG 0.473 NA TSP Lung(8;0.080) 14 43 0 0 0 0 SPAG16 79582 broad.mit.edu 37 2 214794821 214794821 + Missense_Mutation SNP T T C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:214794821T>C uc002veq.2 + 12 1444 c.1352T>C c.(1351-1353)GTG>GCG p.V451A SPAG16_uc010fuz.1_Missense_Mutation_p.V302A|SPAG16_uc002ver.2_Missense_Mutation_p.V397A|SPAG16_uc010zjk.1_Missense_Mutation_p.V357A NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 451 WD 3. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGCAATTTTGTGGCTTCCTCC 0.423 NA 28 41 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225368493 225368493 + Missense_Mutation SNP A A C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:225368493A>C uc002vny.2 - 9 1637 c.1253T>G c.(1252-1254)CTT>CGT p.L418R CUL3_uc010zls.1_Missense_Mutation_p.L352R|CUL3_uc010fwy.1_Missense_Mutation_p.L424R NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 418 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) AAACCTAAAAAGGACCATTGC 0.303 NA 4 13 0 0 0 0 DOCK10 55619 broad.mit.edu 37 2 225717743 225717743 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:225717743G>T uc010fwz.1 - 17 2224 c.1985C>A c.(1984-1986)ACA>AAA p.T662K DOCK10_uc002vob.2_Missense_Mutation_p.T656K NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 662 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ACAATACTTTGTTGAATCGTA 0.368 NA 22 38 1.28e-07 1.54e-07 1 0 COL6A3 1293 broad.mit.edu 37 2 238249123 238249123 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:238249123G>A uc002vwl.2 - 38 8721 c.8436C>T c.(8434-8436)TTC>TTT p.F2812F COL6A3_uc002vwo.2_Silent_p.F2606F|COL6A3_uc010znj.1_Silent_p.F2205F|COL6A3_uc002vwj.2_Silent_p.F193F NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2812 VWFA 12.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACAGCCTCCCGAAGCGCATCA 0.547 NA 20 35 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238283189 238283189 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr2:238283189G>T uc002vwl.2 - 8 3830 c.3545C>A c.(3544-3546)CCG>CAG p.P1182Q COL6A3_uc002vwo.2_Missense_Mutation_p.P976Q|COL6A3_uc010znj.1_Missense_Mutation_p.P575Q|COL6A3_uc002vwq.2_Missense_Mutation_p.P976Q|COL6A3_uc002vwr.2_Missense_Mutation_p.P775Q NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1182 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) GGCAAAGTCCGGGATGAAGGA 0.622 NA 23 39 3.88e-16 5.37e-16 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3679898 3679898 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr20:3679898G>C uc002wja.2 - 7 1737 c.1737C>G c.(1735-1737)GAC>GAG p.D579E SIGLEC1_uc002wiz.3_Missense_Mutation_p.D579E NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 579 Ig-like C2-type 5.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CACTGTGGCCGTCCCGGGCCC 0.692 NA 7 15 0 0 0 0 MAVS 57506 broad.mit.edu 37 20 3845384 3845384 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr20:3845384C>T uc002wjw.3 + 6 1276 c.1107C>T c.(1105-1107)CTC>CTT p.L369L MAVS_uc002wjx.3_Silent_p.L228L|MAVS_uc002wjy.3_Silent_p.L67L NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 369 Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 GCATGGTGCTCACCAAGGTGT 0.592 NA 25 63 0 0 0 0 C20orf4 25980 broad.mit.edu 37 20 34828211 34828211 + Missense_Mutation SNP A A T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr20:34828211A>T uc002xfc.1 + 2 514 c.421A>T c.(421-423)AGC>TGC p.S141C C20orf4_uc002xfd.1_Missense_Mutation_p.S141C|C20orf4_uc002xfe.1_Missense_Mutation_p.S141C NM_015511 NP_056326 Q9Y312 CT004_HUMAN hypothetical protein LOC25980 141 0 Breast(12;0.0162) Myeloproliferative disorder(115;0.0393) CAACTTCATCAGCGAAGCCAC 0.567 NA 78 81 0 0 0 0 PTPN1 5770 broad.mit.edu 37 20 49196356 49196356 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr20:49196356C>G uc002xvl.2 + 8 1155 c.981C>G c.(979-981)TTC>TTG p.F327L PTPN1_uc010zys.1_Missense_Mutation_p.F254L NM_002827 NP_002818 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 327 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding 0 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) GCAGGGAGTTCTTCCCAAATC 0.572 NA OREG0026029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 125 0 0 0 0 LIPI 149998 broad.mit.edu 37 21 15561702 15561702 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr21:15561702C>A uc002yjm.2 - 2 158 c.148G>T c.(148-150)GTA>TTA p.V50L LIPI_uc010gkw.1_5'UTR NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 29 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) GAATCCTTTACACTTAGCTGA 0.358 NA 22 36 1.23e-08 1.52e-08 1 0 NCAM2 4685 broad.mit.edu 37 21 22696776 22696776 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr21:22696776C>T uc002yld.1 + 6 942 c.693C>T c.(691-693)TCC>TCT p.S231S NCAM2_uc011acb.1_Silent_p.S89S|NCAM2_uc011acc.1_Silent_p.S256S NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 231 Ig-like C2-type 3.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TGACATTTTCCTGCAGGGCCT 0.493 NA 17 56 0 0 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253791 32253791 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr21:32253791C>A uc002yov.2 - 1 84 c.53G>T c.(52-54)CGC>CTC p.R18L NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 18 keratin filament structural molecule activity pancreas(1) 1 AACAATGCAGCGTCCTCCAAT 0.547 NA 34 59 2.49e-23 3.56e-23 1 0 FTCD 10841 broad.mit.edu 37 21 47570433 47570433 + Missense_Mutation SNP G G C rs149667449 byFrequency TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr21:47570433G>C uc002zif.2 - 6 687 c.643C>G c.(643-645)CGT>GGT p.R215G FTCD_uc002zig.2_Missense_Mutation_p.R215G|FTCD_uc002zih.2_Missense_Mutation_p.R215G|FTCD_uc010gqf.2_Missense_Mutation_p.R215G|FTCD_uc010gqg.1_Missense_Mutation_p.R84G NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 215 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TTCTTCAGACGTCCTGGCTGC 0.577 NA 16 46 0 0 0 0 THAP7 80764 broad.mit.edu 37 22 21354710 21354710 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr22:21354710C>T uc002ztr.1 - 5 419 c.389G>A c.(388-390)GGC>GAC p.G130D THAP7_uc002zts.1_Missense_Mutation_p.G130D|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank NM_001008695 NP_001008695 Q9BT49 THAP7_HUMAN THAP domain containing 7 isoform 2 130 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding 0 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGGCCCTCGGCCCTCGGAGCA 0.622 NA 3 8 0 0 0 0 CABIN1 23523 broad.mit.edu 37 22 24515613 24515613 + Missense_Mutation SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr22:24515613A>G uc002zzi.1 + 28 4707 c.4580A>G c.(4579-4581)TAT>TGT p.Y1527C CABIN1_uc002zzj.1_Missense_Mutation_p.Y1448C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1527C NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1527 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CCCCAGCACTATAAGAGTCTC 0.647 NA 80 141 0 0 0 0 ASPHD2 57168 broad.mit.edu 37 22 26838460 26838460 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr22:26838460G>C uc003acg.2 + 3 1319 c.922G>C c.(922-924)GGG>CGG p.G308R NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 308 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity ovary(1) 1 GCTGGTGGTGGGGGGAGAGCC 0.552 NA 51 140 0 0 0 0 LARGE 9215 broad.mit.edu 37 22 33733754 33733754 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr22:33733754C>A uc003and.3 - 11 1744 c.1165G>T c.(1165-1167)GTG>TTG p.V389L LARGE_uc011amd.1_Missense_Mutation_p.V188L|LARGE_uc003ane.3_Missense_Mutation_p.V389L|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Missense_Mutation_p.V321L|LARGE_uc011amf.1_Missense_Mutation_p.V389L|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 389 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) TTGTTCTTCACCCGGAGCTTC 0.557 NA 11 27 0.000151284 0.000167562 1 0 MYH9 4627 broad.mit.edu 37 22 36689419 36689419 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr22:36689419C>G uc003apg.2 - 30 4282 c.4051G>C c.(4051-4053)GCC>CCC p.A1351P NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1351 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TTGTGCTTGGCCTCCTCCTCC 0.652 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 31 56 0 0 0 0 GADL1 339896 broad.mit.edu 37 3 30875411 30875411 + Silent SNP G G T rs139652704 byFrequency TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:30875411G>T uc003cep.2 - 11 1031 c.984C>A c.(982-984)GCC>GCA p.A328A GADL1_uc003ceq.1_Silent_p.A328A NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 328 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) GTGGGTTCCAGGCCACAGAGT 0.448 NA 15 19 3.53e-06 4.07e-06 1 0 CCR2 729230 broad.mit.edu 37 3 46399710 46399710 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:46399710G>T uc003cpn.3 + 2 1177 c.692G>T c.(691-693)CGG>CTG p.R231L CCR2_uc003cpm.3_Missense_Mutation_p.R231L NM_001123041 NP_001116513 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 isoform A 231 Cytoplasmic (Potential). astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity lung(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) ACCCTGCTTCGGTGTCGAAAC 0.453 NA 103 142 1.26e-39 1.84e-39 1 0 RNF123 63891 broad.mit.edu 37 3 49738099 49738099 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:49738099C>T uc003cxh.2 + 15 1320 c.1234C>T c.(1234-1236)CTG>TTG p.L412L RNF123_uc010hky.1_Silent_p.L74L|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 412 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TATCGCCATCCTGAGGCATGA 0.607 NA 25 38 0 0 0 0 ACOX2 8309 broad.mit.edu 37 3 58520802 58520802 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:58520802C>T uc003dkl.2 - 2 207 c.32G>A c.(31-33)GGG>GAG p.G11E NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 11 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) CCAGGTATCCCCCAATGACAC 0.572 NA 61 106 0 0 0 0 CNTN3 5067 broad.mit.edu 37 3 74350820 74350820 + Silent SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:74350820C>A uc003dpm.1 - 14 2003 c.1923G>T c.(1921-1923)GTG>GTT p.V641V NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 641 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTTGCCAACCCACGGAGAAAG 0.448 NA 25 19 4.27e-12 5.66e-12 1 0 SI 6476 broad.mit.edu 37 3 164758778 164758778 + Silent SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:164758778A>G uc003fei.2 - 18 2171 c.2109T>C c.(2107-2109)TTT>TTC p.F703F NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 703 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGGCTTTATAAAACAGAGTGT 0.348 NA HNSCC(35;0.089) 27 74 0 0 0 0 SI 6476 broad.mit.edu 37 3 164781266 164781266 + Missense_Mutation SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:164781266A>G uc003fei.2 - 8 933 c.871T>C c.(871-873)TCA>CCA p.S291P NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 291 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACACCGAATGACTTTCCAGAT 0.259 NA HNSCC(35;0.089) 8 42 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178951964 178951964 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:178951964G>C uc003fjk.2 + 21 3176 c.3019G>C c.(3019-3021)GGC>CGC p.G1007R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1007 PI3K/PI4K. G -> R (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G1007R(6)|p.G1007D(2) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCTTGGCTCTGGAAT 0.378 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 19 43 0 0 0 0 CCDC39 339829 broad.mit.edu 37 3 180349272 180349272 + Silent SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr3:180349272G>T uc010hxe.2 - 14 2098 c.1983C>A c.(1981-1983)GCC>GCA p.A661A CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 661 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTACATAATAGGCCTGTGTTT 0.328 NA 11 40 1.59e-06 1.86e-06 1 0 BOD1L 259282 broad.mit.edu 37 4 13602128 13602128 + Silent SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:13602128G>T uc003gmz.1 - 10 6513 c.6396C>A c.(6394-6396)GCC>GCA p.A2132A BOD1L_uc010idr.1_Silent_p.A1469A NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2132 DNA binding ovary(5)|breast(1) 6 CACTTCTGCTGGCAGTGAGTT 0.473 NA 14 35 1.58e-08 1.96e-08 1 0 ATP8A1 10396 broad.mit.edu 37 4 42588439 42588439 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:42588439C>A uc003gwr.2 - 9 881 c.649G>T c.(649-651)GGC>TGC p.G217C ATP8A1_uc003gws.2_Missense_Mutation_p.G217C|ATP8A1_uc011byz.1_Missense_Mutation_p.G217C NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 217 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TCAATTCTGCCAGAAATCCTC 0.343 NA 14 35 0.00316338 0.0033551 1 0 LPHN3 23284 broad.mit.edu 37 4 62812713 62812713 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:62812713C>G uc010ihh.2 + 13 2470 c.2297C>G c.(2296-2298)ACG>AGG p.T766R LPHN3_uc003hcq.3_Missense_Mutation_p.T766R|LPHN3_uc003hct.2_Missense_Mutation_p.T159R NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 753 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 AAGTTGGGAACGGAAGCTTTG 0.403 NA 59 140 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69870669 69870669 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:69870669C>A uc011cao.1 - 9 1517 c.1381G>T c.(1381-1383)GCT>TCT p.A461S UGT2B10_uc011can.1_Missense_Mutation_p.A377S P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 498 Helical; (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GCCACACAGGCCAGCAGGAAC 0.448 NA 11 135 3.07e-06 3.55e-06 1 0 PROL1 58503 broad.mit.edu 37 4 71275449 71275449 + Missense_Mutation SNP T T G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:71275449T>G uc003hfi.2 + 3 578 c.404T>G c.(403-405)CTT>CGT p.L135R NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 135 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) GCTATTTACCTTCCTATCTCT 0.433 NA 40 68 0 0 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73175117 73175117 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:73175117G>A uc003hgk.1 - 15 2213 c.2176C>T c.(2176-2178)CTT>TTT p.L726F ADAMTS3_uc003hgl.2_Missense_Mutation_p.L67F NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 726 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATCTTACCAAGCTTCCTGGGA 0.408 NA 18 38 0 0 0 0 FGF5 2250 broad.mit.edu 37 4 81188293 81188293 + Silent SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:81188293G>T uc003hmd.2 + 1 552 c.315G>T c.(313-315)CCG>CCT p.P105P FGF5_uc003hme.2_Silent_p.P105P NM_004464 NP_004455 P12034 FGF5_HUMAN fibroblast growth factor 5 isoform 1 precursor 105 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity ovary(1)|breast(1) 2 AGATCTACCCGGATGGCAAAG 0.582 NA 29 58 3.74e-18 5.26e-18 1 0 DNAJB14 79982 broad.mit.edu 37 4 100830007 100830007 + Silent SNP T T C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:100830007T>C uc003hvl.2 - 4 649 c.498A>G c.(496-498)AAA>AAG p.K166K DNAJB14_uc003hvk.2_Silent_p.K81K|DNAJB14_uc010ili.2_Silent_p.K99K NM_001031723 NP_001026893 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 166 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) GGTCATACTGTTTTCGCTTTT 0.348 NA 21 40 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114290872 114290872 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:114290872C>G uc003ibe.3 + 43 11621 c.11521C>G c.(11521-11523)CCG>GCG p.P3841A ANK2_uc003ibd.3_Missense_Mutation_p.P1747A|ANK2_uc003ibf.3_Missense_Mutation_p.P1756A|ANK2_uc011cgc.1_Missense_Mutation_p.P932A|ANK2_uc003ibg.3_Missense_Mutation_p.P740A|ANK2_uc003ibh.3_Missense_Mutation_p.P430A|ANK2_uc011cgd.1_Missense_Mutation_p.P1143A NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3808 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGAGAGCTCTCCGCGGAAAAC 0.537 NA 24 40 0 0 0 0 TRPC3 7222 broad.mit.edu 37 4 122800901 122800901 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:122800901C>G uc003ieg.2 - 12 2830 c.2756G>C c.(2755-2757)AGA>ACA p.R919T TRPC3_uc010inr.2_Missense_Mutation_p.R791T|TRPC3_uc003ief.2_Missense_Mutation_p.R846T|TRPC3_uc011cgl.1_Missense_Mutation_p.R583T NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 834 Extracellular (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 TCATTCACATCTCAGCATGCT 0.363 NA 14 35 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126408505 126408505 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:126408505G>T uc003ifj.3 + 16 12822 c.12822G>T c.(12820-12822)AAG>AAT p.K4274N FAT4_uc011cgp.1_Missense_Mutation_p.K2515N|FAT4_uc003ifi.1_Missense_Mutation_p.K1752N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4274 Laminin G-like 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TACAGATTAAGAATGGCAAAG 0.318 NA 7 17 0.00198382 0.00210831 1 0 PCDH10 57575 broad.mit.edu 37 4 134073619 134073619 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr4:134073619C>A uc003iha.2 + 1 3150 c.2324C>A c.(2323-2325)GCC>GAC p.A775D PCDH10_uc003igz.2_Missense_Mutation_p.A775D NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 775 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GGCCGCCAAGCCCGGGCGCGC 0.592 NA 13 26 0.00010058 0.000111637 1 0 CTNND2 1501 broad.mit.edu 37 5 10992676 10992676 + Silent SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:10992676G>T uc003jfa.1 - 19 3343 c.3198C>A c.(3196-3198)CCC>CCA p.P1066P CTNND2_uc010itt.2_Silent_p.P975P|CTNND2_uc011cmy.1_Silent_p.P729P|CTNND2_uc011cmz.1_Silent_p.P633P|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.P658P NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1066 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 AGCGGTTGTTGGGAGACACGC 0.592 NA 14 57 3.27e-08 4.01e-08 1 0 CTNND2 1501 broad.mit.edu 37 5 11397162 11397162 + Missense_Mutation SNP G G A rs141302945 TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:11397162G>A uc003jfa.1 - 6 738 c.593C>T c.(592-594)ACG>ATG p.T198M CTNND2_uc010itt.2_Missense_Mutation_p.T107M|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Translation_Start_Site|CTNND2_uc010itu.1_Intron NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 198 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 GCTCTGGCCCGTAGCTCGGGC 0.607 NA 41 106 0 0 0 0 NPR3 4883 broad.mit.edu 37 5 32783095 32783095 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:32783095C>G uc003jhv.2 + 6 1605 c.1387C>G c.(1387-1389)CGA>GGA p.R463G NPR3_uc010iuo.2_Missense_Mutation_p.R247G|NPR3_uc011cnz.1_Missense_Mutation_p.R247G|NPR3_uc003jhu.2_Missense_Mutation_p.R463G NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 463 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) AGATGAAAACCGAATTGTAGA 0.383 NA 6 19 0 0 0 0 RAI14 26064 broad.mit.edu 37 5 34823148 34823148 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:34823148C>T uc003jir.2 + 15 1397 c.1201C>T c.(1201-1203)CCT>TCT p.P401S RAI14_uc010iur.2_Missense_Mutation_p.P372S|RAI14_uc011coj.1_Missense_Mutation_p.P401S|RAI14_uc003jis.2_Missense_Mutation_p.P404S|RAI14_uc003jit.2_Missense_Mutation_p.P401S|RAI14_uc011cok.1_Missense_Mutation_p.P393S NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 401 cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CCTGGGAAAACCTGGTGAAAC 0.453 NA 25 53 0 0 0 0 GRIA1 2890 broad.mit.edu 37 5 153056596 153056596 + Nonsense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:153056596G>T uc003lva.3 + 7 1269 c.904G>T c.(904-906)GAG>TAG p.E302* GRIA1_uc003luy.3_Nonsense_Mutation_p.E302*|GRIA1_uc003luz.3_Nonsense_Mutation_p.E207*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.E222*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.E233*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.E312*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.E312*|GRIA1_uc010jia.1_Nonsense_Mutation_p.E282* NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 302 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGTGATGGCTGAGGCTTTCCA 0.552 NA 17 23 1.68e-08 2.07e-08 1 0 GRIA1 2890 broad.mit.edu 37 5 153056599 153056599 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:153056599G>C uc003lva.3 + 7 1272 c.907G>C c.(907-909)GCT>CCT p.A303P GRIA1_uc003luy.3_Missense_Mutation_p.A303P|GRIA1_uc003luz.3_Missense_Mutation_p.A208P|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.A223P|GRIA1_uc011dcx.1_Missense_Mutation_p.A234P|GRIA1_uc011dcy.1_Missense_Mutation_p.A313P|GRIA1_uc011dcz.1_Missense_Mutation_p.A313P|GRIA1_uc010jia.1_Missense_Mutation_p.A283P NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 303 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GATGGCTGAGGCTTTCCAGAG 0.562 NA 15 21 0 0 0 0 RARS 5917 broad.mit.edu 37 5 167921571 167921571 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:167921571C>T uc003lzx.2 + 5 536 c.495C>T c.(493-495)CAC>CAT p.H165H RARS_uc011deo.1_5'UTR NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 165 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TTAATGTCCACTTAAGAAAGG 0.358 NA 8 28 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176687055 176687055 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:176687055G>T uc003mfr.3 + 14 5170 c.5032G>T c.(5032-5034)GGG>TGG p.G1678W NSD1_uc003mft.3_Missense_Mutation_p.G1409W|NSD1_uc003mfs.1_Missense_Mutation_p.G1575W|NSD1_uc011dfx.1_Missense_Mutation_p.G1326W NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1678 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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;0.198) Kidney(146;0.235) CCTGGCTGCTGGGTCAAAGAT 0.488 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 13 30 1.5e-05 1.7e-05 1 0 GCNT2 2651 broad.mit.edu 37 6 10529410 10529410 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:10529410C>T uc010joo.2 + 3 817 c.266C>T c.(265-267)TCT>TTT p.S89F GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.S88F|GCNT2_uc010jon.2_Missense_Mutation_p.S88F NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 89 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GAAACACTCTCTGAAGAAGAG 0.428 NA 31 43 0 0 0 0 PEX6 5190 broad.mit.edu 37 6 42936617 42936617 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:42936617G>A uc003otf.2 - 6 1567 c.1474C>T c.(1474-1476)CTG>TTG p.L492L PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 492 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) CTCACCTTCAGTAAGTGGAGC 0.587 NA 29 15 0 0 0 0 COL12A1 1303 broad.mit.edu 37 6 75825753 75825753 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:75825753C>T uc003phs.2 - 48 7706 c.7540G>A c.(7540-7542)GAT>AAT p.D2514N COL12A1_uc003pht.2_Missense_Mutation_p.D1350N NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2514 Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GTGTAGCCATCCAAATAAATG 0.328 NA 4 30 0 0 0 0 ARMC2 84071 broad.mit.edu 37 6 109215694 109215694 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:109215694G>T uc003pss.3 + 6 870 c.696G>T c.(694-696)AGG>AGT p.R232S ARMC2_uc011eao.1_Missense_Mutation_p.R67S NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 232 binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) GACATGCGAGGGCCTCATCAT 0.488 NA 22 56 7.42e-09 9.23e-09 1 0 RFPL4B 442247 broad.mit.edu 37 6 112671295 112671295 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:112671295G>T uc003pvx.1 + 3 697 c.385G>T c.(385-387)GAT>TAT p.D129Y NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 129 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) TCTGACAAAAGATCCCAGGCT 0.557 NA 22 38 3.6e-14 4.87e-14 1 0 RFPL4B 442247 broad.mit.edu 37 6 112671407 112671407 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:112671407C>A uc003pvx.1 + 3 809 c.497C>A c.(496-498)CCG>CAG p.P166Q NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 166 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) TGCAAGGAGCCGGCTGACAGA 0.547 NA 30 67 7.01e-11 9.13e-11 1 0 LAMA2 3908 broad.mit.edu 37 6 129723502 129723502 + Missense_Mutation SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:129723502A>G uc003qbn.2 + 39 5701 c.5596A>G c.(5596-5598)ATG>GTG p.M1866V LAMA2_uc003qbo.2_Missense_Mutation_p.M1866V NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1866 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATTGCCACCTATGTCTGAGGA 0.423 NA 13 21 0 0 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130378576 130378576 + Silent SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:130378576G>T uc003qbt.2 + 9 863 c.693G>T c.(691-693)GCG>GCT p.A231A L3MBTL3_uc003qbu.2_Silent_p.A206A NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 231 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) GAAAGAAAGCGTGGTGCTGGG 0.522 NA 7 17 1.26e-09 1.61e-09 1 0 MAP3K5 4217 broad.mit.edu 37 6 136990474 136990474 + Missense_Mutation SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr6:136990474A>G uc003qhc.2 - 8 1674 c.1313T>C c.(1312-1314)CTC>CCC p.L438P MAP3K5_uc011edk.1_Missense_Mutation_p.L283P|MAP3K5_uc010kgw.1_Missense_Mutation_p.L438P NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 438 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TGCCAGGAGGAGGACCGCATA 0.388 NA 3 96 0 0 0 0 GPER 2852 broad.mit.edu 37 7 1131629 1131629 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:1131629G>A uc010ksd.1 + 2 654 c.265G>A c.(265-267)GAG>AAG p.E89K C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.E89K|GPER_uc003ska.1_Missense_Mutation_p.E89K|GPER_uc003skb.2_Missense_Mutation_p.E89K NM_001098201 NP_001091671 Q99527 GPER_HUMAN G protein-coupled receptor 30 89 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CAGCTTCCGCGAGAAGATGAC 0.582 NA 15 51 0 0 0 0 NPVF 64111 broad.mit.edu 37 7 25266438 25266438 + Missense_Mutation SNP T T C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:25266438T>C uc003sxo.2 - 2 393 c.346A>G c.(346-348)ATG>GTG p.M116V NM_022150 NP_071433 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 116 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity ovary(1) 1 CTCACCTCCATATTTCTTCCA 0.493 NA 48 119 0 0 0 0 PDE1C 5137 broad.mit.edu 37 7 32209516 32209516 + Silent SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:32209516C>A uc003tco.1 - 3 783 c.189G>T c.(187-189)GGG>GGT p.G63G NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C Error:Variant_position_missing_in_Q14123_after_alignment activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CCTTGACATTCCCTGTGAGCC 0.517 NA 25 105 3.67e-16 5.1e-16 1 0 AMPH 273 broad.mit.edu 37 7 38433765 38433765 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:38433765G>A uc003tgu.2 - 18 1517 c.1448C>T c.(1447-1449)GCA>GTA p.A483V AMPH_uc003tgv.2_Missense_Mutation_p.A441V|AMPH_uc003tgt.2_Missense_Mutation_p.A368V|AMPH_uc003tgw.1_Missense_Mutation_p.A506V|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 483 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CCCCTCAGCTGCTGACACCAA 0.587 NA 55 66 0 0 0 0 IGFBP1 3484 broad.mit.edu 37 7 45928583 45928583 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:45928583C>A uc003tnp.2 + 1 625 c.332C>A c.(331-333)TCC>TAC p.S111Y IGFBP1_uc003tno.3_Missense_Mutation_p.S111Y|IGFBP1_uc010kyn.2_Missense_Mutation_p.S111Y NM_000596 NP_000587 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 111 extracellular space insulin-like growth factor binding lung(1) 1 TCTGACGCCTCCGCTCCCCAT 0.478 NA 4 4 0.00909568 0.0094935 1 0 GTF2IRD1 9569 broad.mit.edu 37 7 74015431 74015431 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:74015431C>G uc003uaq.2 + 26 3128 c.2735C>G c.(2734-2736)TCC>TGC p.S912C GTF2IRD1_uc010lbq.2_Missense_Mutation_p.S929C|GTF2IRD1_uc003uap.2_Missense_Mutation_p.S897C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.S897C NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 912 Ser-rich. Missing: Cytoplasmic localization. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 AATTCCGTctcctcttcctcc 0.438 NA 23 27 0 0 0 0 PON1 5444 broad.mit.edu 37 7 94946068 94946068 + Missense_Mutation SNP T T G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:94946068T>G uc003uns.2 - 3 276 c.179A>C c.(178-180)AAT>ACT p.N60T PON1_uc011kih.1_Missense_Mutation_p.N60T NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 60 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) AGCCAGTCCATTAGGCAGTAT 0.398 NA 46 323 0 0 0 0 TECPR1 25851 broad.mit.edu 37 7 97872809 97872809 + Silent SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:97872809C>A uc003upg.2 - 6 832 c.627G>T c.(625-627)CTG>CTT p.L209L TECPR1_uc003uph.1_Silent_p.L130L NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 209 TECPR 1. integral to membrane protein binding pancreas(1) 1 CCCACACTGACAGGCGGCCCA 0.647 NA 84 47 1.51e-25 2.19e-25 1 0 MUC17 140453 broad.mit.edu 37 7 100685833 100685833 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:100685833C>T uc003uxp.1 + 3 11189 c.11136C>T c.(11134-11136)AGC>AGT p.S3712S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3712 Extracellular (Potential).|59.|59 X approximate tandem repeats.|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) CTGAGGGTAGCACCCTTTCAA 0.507 NA 441 189 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103216153 103216153 + Splice_Site SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:103216153C>A uc003vca.2 - 29 4306 c.4146_splice c.e29-1 p.S1382_splice RELN_uc010liz.2_Splice_Site_p.S1382_splice NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCTGGTCTTGCTGTTGGGAAA 0.403 NA 16 165 5.01e-05 5.63e-05 1 0 LAMB1 3912 broad.mit.edu 37 7 107580499 107580499 + Missense_Mutation SNP G G C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:107580499G>C uc003vew.2 - 25 4031 c.3696C>G c.(3694-3696)GAC>GAG p.D1232E LAMB1_uc003vev.2_Missense_Mutation_p.D1256E NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1232 Potential.|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) GCGCCAGGATGTCTTTTATCT 0.498 NA 36 37 0 0 0 0 CADPS2 93664 broad.mit.edu 37 7 122028668 122028668 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:122028668C>T uc010lkp.2 - 22 3296 c.3133G>A c.(3133-3135)GCC>ACC p.A1045T CADPS2_uc011knx.1_Missense_Mutation_p.A420T|CADPS2_uc003vkg.3_Missense_Mutation_p.A699T|CADPS2_uc010lkq.2_Missense_Mutation_p.A999T NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 1045 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 ATATCACTGGCCATTAGTTTA 0.408 NA 6 7 0 0 0 0 OR6V1 346517 broad.mit.edu 37 7 142750110 142750110 + Silent SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr7:142750110C>A uc011ksv.1 + 1 673 c.673C>A c.(673-675)CGG>AGG p.R225R NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) CACTGTGCTGCGGATCCCCTC 0.532 NA 55 63 2.12e-23 3.04e-23 1 0 CEBPD 1052 broad.mit.edu 37 8 48649939 48649939 + Silent SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr8:48649939C>A uc003xqh.1 - 1 788 c.744G>T c.(742-744)CGG>CGT p.R248R KIAA0146_uc003xqg.1_Intron NM_005195 NP_005186 P49716 CEBPD_HUMAN CCAAT/enhancer binding protein delta 248 Leucine-zipper. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914) TGAAGAACTGCCGGAGGCCGG 0.687 NA 11 30 1.59e-06 1.86e-06 1 0 ARFGEF1 10565 broad.mit.edu 37 8 68184172 68184172 + Splice_Site SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr8:68184172C>A uc003xxo.1 - 10 1728 c.1338_splice c.e10-1 p.K446_splice NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 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) TTCATGAGACCTAAAATGTAA 0.318 NA 12 13 6.4e-05 7.18e-05 1 0 INTS8 55656 broad.mit.edu 37 8 95863869 95863869 + Silent SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr8:95863869A>G uc003yhb.2 + 13 1722 c.1596A>G c.(1594-1596)TTA>TTG p.L532L INTS8_uc003yha.1_Silent_p.L532L|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.L359L NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 532 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TAATTGAATTACATGGTATGA 0.363 NA 19 45 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 105026790 105026790 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr8:105026790G>T uc003yls.2 + 17 2742 c.2501G>T c.(2500-2502)GGA>GTA p.G834V RIMS2_uc003ylp.2_Missense_Mutation_p.G1094V|RIMS2_uc003ylw.2_Missense_Mutation_p.G908V|RIMS2_uc003ylq.2_Missense_Mutation_p.G908V|RIMS2_uc003ylr.2_Missense_Mutation_p.G933V NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1156 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAGTCGCAGGACGAAGGGGC 0.438 NA HNSCC(12;0.0054) 21 26 4.63e-17 6.5e-17 1 0 COL22A1 169044 broad.mit.edu 37 8 139890335 139890335 + Missense_Mutation SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr8:139890335G>A uc003yvd.2 - 3 763 c.316C>T c.(316-318)CGG>TGG p.R106W NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 106 VWFA. 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) GCGAGACGCCGGGCAGCCGCC 0.716 NA HNSCC(7;0.00092) 16 4 0 0 0 0 DMRT3 58524 broad.mit.edu 37 9 990980 990980 + Missense_Mutation SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:990980C>G uc003zgw.1 + 2 1432 c.1394C>G c.(1393-1395)TCT>TGT p.S465C NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 465 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TCCTCAGACTCTAGAACACTC 0.512 NA 32 39 0 0 0 0 TRPM6 140803 broad.mit.edu 37 9 77403655 77403655 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:77403655C>T uc004ajl.1 - 20 2780 c.2542G>A c.(2542-2544)GCG>ACG p.A848T TRPM6_uc004ajk.1_Missense_Mutation_p.A843T|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 848 Helical; (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GCCAAATACGCCATCTGTGAG 0.532 NA 6 30 0 0 0 0 FGD3 89846 broad.mit.edu 37 9 95795123 95795123 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:95795123C>A uc004asw.2 + 16 2381 c.1753C>A c.(1753-1755)CTG>ATG p.L585M FGD3_uc004asx.2_Missense_Mutation_p.L585M|FGD3_uc004asz.2_Missense_Mutation_p.L585M|FGD3_uc011luc.1_Missense_Mutation_p.L188M NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 585 FYVE-type. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 AGATTGTTTCCTGACACAGCC 0.637 NA 42 112 2.45e-15 3.37e-15 1 0 TBC1D2 55357 broad.mit.edu 37 9 100963875 100963875 + Missense_Mutation SNP G G T rs148540803 by1000genomes TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:100963875G>T uc011lvb.1 - 11 2523 c.2343C>A c.(2341-2343)CAC>CAA p.H781Q TBC1D2_uc004ayp.2_Missense_Mutation_p.H321Q|TBC1D2_uc004ayq.2_Missense_Mutation_p.H781Q|TBC1D2_uc004ayr.2_Missense_Mutation_p.H563Q|TBC1D2_uc004ayo.3_Missense_Mutation_p.H781Q NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 781 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GATCCACGTGGTGCTGCCCCA 0.607 NA 19 54 1.96e-10 2.52e-10 1 0 GRIN3A 116443 broad.mit.edu 37 9 104499694 104499694 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:104499694C>T uc004bbp.1 - 1 1169 c.568G>A c.(568-570)GTG>ATG p.V190M GRIN3A_uc004bbq.1_Missense_Mutation_p.V190M NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 190 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACCCCTTGCACCACCACGGTA 0.587 NA 17 45 0 0 0 0 FKTN 2218 broad.mit.edu 37 9 108366711 108366711 + Silent SNP T T A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:108366711T>A uc004bcr.2 + 6 801 c.585T>A c.(583-585)ATT>ATA p.I195I FKTN_uc011lvx.1_Silent_p.I195I|FKTN_uc004bcs.2_Silent_p.I195I|FKTN_uc011lvy.1_Silent_p.I195I|FKTN_uc010mtm.2_Silent_p.I63I NM_001079802 NP_001073270 O75072 FKTN_HUMAN fukutin 195 Lumenal (Potential). muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(2)|ovary(1) 3 AAGAACACATTGACAGGAAAT 0.443 NA 16 34 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113169643 113169643 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:113169643C>A uc010mtz.2 - 38 8574 c.8237G>T c.(8236-8238)GGA>GTA p.G2746V SVEP1_uc010mty.2_Missense_Mutation_p.G672V NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2746 Sushi 22. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TAGAATGTGTCCAGGTTTACA 0.443 NA 28 65 1.26e-06 1.5e-06 1 0 FCN2 2220 broad.mit.edu 37 9 137772670 137772670 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:137772670G>T uc004cfg.1 + 1 13 c.3G>T c.(1-3)ATG>ATT p.M1I FCN2_uc004cfh.1_Missense_Mutation_p.M1I NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 1 complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) CAGAAGAGATGGAGCTGGACA 0.592 NA 14 29 6.32e-08 7.68e-08 1 0 PNPLA7 375775 broad.mit.edu 37 9 140438232 140438232 + Silent SNP A A C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:140438232A>C uc004cnf.2 - 4 571 c.234T>G c.(232-234)ACT>ACG p.T78T PNPLA7_uc010ncj.1_Silent_p.T103T NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 78 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGGGCAGGGCAGTGTTCTCCA 0.622 NA 21 64 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79999656 79999656 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chrX:79999656C>A uc004edt.2 - 8 951 c.688G>T c.(688-690)GTT>TTT p.V230F BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.V59F|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 230 WD 3. ovary(4) 4 TCATAGTTAACAGCCATGTCA 0.448 NA 23 17 6.36e-07 7.58e-07 1 0 POU3F4 5456 broad.mit.edu 37 X 82764275 82764275 + Missense_Mutation SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chrX:82764275C>T uc004eeg.2 + 1 1007 c.943C>T c.(943-945)CTC>TTC p.L315F NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 315 Homeobox. sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 GGCAGACAGCCTCCAGTTGGA 0.557 NA 11 9 0 0 0 0 DCX 1641 broad.mit.edu 37 X 110653366 110653366 + Silent SNP C C G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chrX:110653366C>G uc004epd.2 - 2 676 c.504G>C c.(502-504)CTG>CTC p.L168L DCX_uc011msv.1_Silent_p.L168L|DCX_uc004epe.2_Silent_p.L87L|DCX_uc004epf.2_Silent_p.L87L|DCX_uc004epg.2_Silent_p.L87L NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 168 Doublecortin 1. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 GAGATCGCGTCAGGTCAGCCA 0.527 NA 51 27 0 0 0 0 FAM70A 55026 broad.mit.edu 37 X 119410744 119410744 + Missense_Mutation SNP T T C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chrX:119410744T>C uc004eso.3 - 8 970 c.743A>G c.(742-744)GAC>GGC p.D248G FAM70A_uc004esp.3_Missense_Mutation_p.D224G|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 248 integral to membrane lung(1)|breast(1) 2 CCTTACCATGTCCTTAAAGCC 0.507 NA 26 10 0 0 0 0 ODZ1 10178 broad.mit.edu 37 X 123515059 123515059 + Missense_Mutation SNP T T C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chrX:123515059T>C uc004euj.2 - 31 7569 c.7505A>G c.(7504-7506)AAT>AGT p.N2502S ODZ1_uc011muj.1_Missense_Mutation_p.N2508S|ODZ1_uc010nqy.2_Missense_Mutation_p.N2509S NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2502 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 CCGTCCATCATTGTATCGGGG 0.463 NA 60 32 0 0 0 0 ATP11C 286410 broad.mit.edu 37 X 138899028 138899028 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chrX:138899028G>A uc004faz.2 - 4 420 c.321C>T c.(319-321)ATC>ATT p.I107I ATP11C_uc004fba.2_Silent_p.I107I NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 107 Helical; (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) TTACCTGCTTGATGGCTGTAA 0.368 NA 17 21 0 0 0 0 SPANXN1 494118 broad.mit.edu 37 X 144329127 144329127 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chrX:144329127C>T uc004fcb.2 + 1 21 c.21C>T c.(19-21)AGC>AGT p.S7S NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 7 0 Acute lymphoblastic leukemia(192;6.56e-05) CCACTTCAAGCATCAATGGGG 0.363 NA 46 41 0 0 0 0 TMEM79 84283 broad.mit.edu 37 1 156261302 156261302 + Frame_Shift_Del DEL G G - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr1:156261302delG uc010phi.1 + 4 1294 c.1098delG c.(1096-1098)GAGfs p.E366fs TMEM79_uc001fod.2_Frame_Shift_Del_p.E207fs|TMEM79_uc009wrw.2_Frame_Shift_Del_p.E366fs|C1orf85_uc001fof.3_Intron|C1orf85_uc001fog.1_Intron NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN transmembrane protein 79 366 integral to membrane central_nervous_system(1) 1 Hepatocellular(266;0.158) TGGAGCCGGAGCGCATGCTCA 0.672 NA 52 142 --- --- --- --- NA NA NA NA KBTBD4 55709 broad.mit.edu 37 11 47598968 47598971 + Frame_Shift_Del DEL ATGA ATGA - rs149725159 TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:47598968_47598971delATGA uc001nfx.2 - 2 752_755 c.581_584delTCAT c.(580-585)ATCATCfs p.I194fs NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Frame_Shift_Del_p.I219fs|KBTBD4_uc001nfz.2_Frame_Shift_Del_p.I210fs|KBTBD4_uc001nfy.2_Frame_Shift_Del_p.I194fs|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank NM_016506 NP_057590 Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 194_195 BACK. I -> T (in Ref. 1; BAA91616). ovary(1)|central_nervous_system(1) 2 CTTACCCGAGATGATATCTGTGAG 0.5 NA 25 76 --- --- --- --- NA NA NA NA VPS11 55823 broad.mit.edu 37 11 118949031 118949033 + In_Frame_Del DEL AGA AGA - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr11:118949031_118949033delAGA uc010ryx.1 + 12 1952_1954 c.1910_1912delAGA c.(1909-1914)GAGAAG>GAG p.K638del VPS11_uc010ryy.1_In_Frame_Del_p.K484del NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 638 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) TGGGCCCACGAGAAGGATCCACA 0.562 NA 37 225 --- --- --- --- NA NA NA NA CD27 939 broad.mit.edu 37 12 6559460 6559466 + Frame_Shift_Del DEL TCGGTCG TCGGTCG - rs150578547 byFrequency TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:6559460_6559466delTCGGTCG uc001qod.2 + 3 601_607 c.390_396delTCGGTCG c.(388-396)GCTCGGTCGfs p.A130fs LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'UTR|LOC678655_uc009zem.1_Intron|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank NM_001242 NP_001233 P26842 CD27_HUMAN tumor necrosis factor receptor superfamily, 130_132 Extracellular (Potential).|TNFR-Cys 3. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity 0 CGCTGACCGCTCGGTCGTCTCAGGCCC 0.585 NA 17 56 --- --- --- --- NA NA NA NA DPPA3 359787 broad.mit.edu 37 12 7864234 7864234 + Frame_Shift_Del DEL C C - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:7864234delC uc001qtf.2 + 1 146 c.68delC c.(67-69)TCCfs p.S23fs NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN stella 23 cytoplasm|nucleus 0 Kidney(36;0.0887) GAAGAAAATTCCCGGGACGAT 0.468 NA 13 19 --- --- --- --- NA NA NA NA GTF2H3 2967 broad.mit.edu 37 12 124132650 124132650 + Frame_Shift_Del DEL A A - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr12:124132650delA uc001ufo.1 + 4 367 c.341delA c.(340-342)GAGfs p.E114fs GTF2H3_uc010tau.1_Frame_Shift_Del_p.E73fs NM_001516 NP_001507 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 114 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) ATTGTTGAAGAGATTAAAGAT 0.348 NA NER 25 45 --- --- --- --- NA NA NA NA CPNE2 221184 broad.mit.edu 37 16 57144698 57144698 + Frame_Shift_Del DEL C C - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr16:57144698delC uc002eks.1 + 2 273 c.44delC c.(43-45)GCCfs p.A15fs CPNE2_uc010cct.1_Frame_Shift_Del_p.A41fs|CPNE2_uc010ccu.1_Frame_Shift_Del_p.A15fs NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN copine II 15 C2 1. central_nervous_system(1)|skin(1) 2 all_neural(199;0.224) GCGGGGGCAGCCCCCATGGGC 0.642 NA 16 57 --- --- --- --- NA NA NA NA CPAMD8 27151 broad.mit.edu 37 19 17056421 17056428 + Frame_Shift_Del DEL TCTCCTCA TCTCCTCA - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr19:17056421_17056428delTCTCCTCA uc002nfb.2 - 22 2897_2904 c.2865_2872delTGAGGAGA c.(2863-2874)CCTGAGGAGAATfs p.P955fs NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 908_911 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TCGGCGTGATTCTCCTCAGGGTGTTTGC 0.572 NA 27 64 --- --- --- --- NA NA NA NA CDC45 8318 broad.mit.edu 37 22 19504093 19504093 + Frame_Shift_Del DEL C C - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr22:19504093delC uc002zpr.2 + 16 1560 c.1484delC c.(1483-1485)GCCfs p.A495fs CDC45_uc011aha.1_Frame_Shift_Del_p.A527fs|CDC45_uc002zps.2_Frame_Shift_Del_p.A495fs|CDC45_uc002zpt.2_Frame_Shift_Del_p.A449fs NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 495 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 GTGATGGCTGCCCCCCTGAGC 0.627 NA 25 59 --- --- --- --- NA NA NA NA SHANK3 85358 broad.mit.edu 37 22 51159933 51159933 + Frame_Shift_Del DEL G G - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr22:51159933delG uc003bne.1 + 22 3720 c.3720delG c.(3718-3720)CTGfs p.L1240fs SHANK3_uc003bnf.1_Frame_Shift_Del_p.L687fs|SHANK3_uc010hbg.1_Frame_Shift_Del_p.L422fs NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1240 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCAGCAGGCTGGGGGGGGCCG 0.721 NA 4 3 --- --- --- --- NA NA NA NA ADAMTS12 81792 broad.mit.edu 37 5 33614378 33614378 + Frame_Shift_Del DEL C C - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr5:33614378delC uc003jia.1 - 16 2655 c.2492delG c.(2491-2493)GGCfs p.G831fs ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.G746fs NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 831 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGTCCAGTGGCCGTACTGCCA 0.502 NA HNSCC(64;0.19) 10 22 --- --- --- --- NA NA NA NA ARID3C 138715 broad.mit.edu 37 9 34622436 34622436 + Frame_Shift_Del DEL G G - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:34622436delG uc011lon.1 - 5 956 c.956delC c.(955-957)CCAfs p.P319fs DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 319 REKLES.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TCTCTTCTCTGGGGGCTCCTC 0.607 NA 21 39 --- --- --- --- NA NA NA NA OR13F1 138805 broad.mit.edu 37 9 107267065 107267066 + Frame_Shift_Ins INS - - A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 750da72e-cabd-4b97-8160-8c4e39272b8b 007618bc-1555-4b26-80ba-94678bcefcc8 g.chr9:107267065_107267066insA uc011lvm.1 + 1 522_523 c.522_523insA c.(520-525)ATCAATfs p.I174fs NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 174_175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 ATAGCATCATCAATCATTTCAC 0.48 NA 35 105 --- --- --- --- NA NA NA NA