Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PLCH2 9651 broad.mit.edu 37 1 2429996 2429996 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:2429996C>A uc001aji.1 + 17 2533 c.2259C>A c.(2257-2259)CCC>CCA p.P753P PLCH2_uc010nyz.1_Silent_p.P541P|PLCH2_uc009vle.1_Silent_p.P505P|PLCH2_uc001ajj.1_Silent_p.P541P|PLCH2_uc001ajk.1_Silent_p.P541P|PLCH2_uc001ajl.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 753 C2. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) ACCCCCTGCCCGGGCAGCTCA 0.687 NA 5 13 1.23904e-05 1.47252e-05 0.000602 1 0 KLHDC7A 127707 broad.mit.edu 37 1 18809454 18809454 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:18809454G>T uc001bax.2 + 1 2031 c.1979G>T c.(1978-1980)GGC>GTC p.G660V KLHDC7A_uc009vpg.2_Missense_Mutation_p.G442V NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 660 Kelch 5. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGGTGGGCCGGCCCCACCGGG 0.677 NA 8 46 1.06961e-07 1.44047e-07 0.00308 1 0 EPHA10 284656 broad.mit.edu 37 1 38227387 38227387 + Silent SNP G G T rs143929786 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:38227387G>T uc009vvi.2 - 3 626 c.540C>A c.(538-540)ATC>ATA p.I180I EPHA10_uc001cbw.3_Silent_p.I180I NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 180 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGAGCGGTCCGATCTCGCGCA 0.662 NA 14 70 3.27435e-08 4.48551e-08 0.00245 1 0 ERI3 79033 broad.mit.edu 37 1 44750540 44750540 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:44750540C>T uc001clt.2 - 7 1039 c.798G>A c.(796-798)GCG>GCA p.A266A ERI3_uc010okv.1_Silent_p.A89A|ERI3_uc009vxg.2_Silent_p.A266A|ERI3_uc010okw.1_Silent_p.A188A|ERI3_uc001clu.2_Silent_p.A188A NM_024066 NP_076971 O43414 ERI3_HUMAN prion protein interacting protein 266 Exonuclease. intracellular exonuclease activity|metal ion binding|nucleic acid binding ovary(2)|large_intestine(1) 3 TGAAGTAATCCGCCACTGGCA 0.512 NA 10 52 0 0 0.006214 0 0 FAM159A 348378 broad.mit.edu 37 1 53122519 53122519 + Missense_Mutation SNP T T G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:53122519T>G uc001cuf.2 + 3 480 c.380T>G c.(379-381)GTG>GGG p.V127G FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 127 integral to membrane 0 GCGGCAGAAGTGCCAAAAGTG 0.567 NA 24 109 0 0 0.014323 0 0 ACOT11 26027 broad.mit.edu 37 1 55060276 55060276 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:55060276G>A uc001cxm.1 + 6 601 c.519G>A c.(517-519)GAG>GAA p.E173E ACOT11_uc001cxj.1_Silent_p.E51E|ACOT11_uc001cxk.2_Silent_p.E139E|ACOT11_uc001cxl.1_Silent_p.E173E NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 173 fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 AGAAGATGGAGCACAGTGTGG 0.622 Ovarian(148;1440 1861 22015 32453 51933) NA 7 34 0 0 0.00308 0 0 SFRS11 9295 broad.mit.edu 37 1 70715696 70715696 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:70715696A>G uc001des.2 + 11 1208 c.1084A>G c.(1084-1086)AAA>GAA p.K362E SFRS11_uc001det.2_Missense_Mutation_p.K362E|SFRS11_uc001deu.2_Missense_Mutation_p.K369E|SFRS11_uc001dev.2_Missense_Mutation_p.K172E|SFRS11_uc001dew.2_Missense_Mutation_p.K302E NM_004768 NP_004759 Q05519 SRS11_HUMAN splicing factor, arginine/serine-rich 11 362 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 TCGGTCTCCTAAAAGAAAATT 0.368 NA 11 52 0 0 0.010729 0 0 CLCA4 22802 broad.mit.edu 37 1 87043639 87043639 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:87043639C>A uc009wcs.2 + 12 2050 c.2006C>A c.(2005-2007)ACA>AAA p.T669K CLCA4_uc009wct.2_Missense_Mutation_p.T432K|CLCA4_uc009wcu.2_Missense_Mutation_p.T489K NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 669 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) ACAGCATATACAGAAAATGGC 0.403 NA 8 34 5.18039e-06 6.34598e-06 0.00308 1 0 TGFBR3 7049 broad.mit.edu 37 1 92161256 92161256 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:92161256C>A uc001doh.2 - 16 2876 c.2410G>T c.(2410-2412)GCC>TCC p.A804S TGFBR3_uc009wde.2_Missense_Mutation_p.A499S|TGFBR3_uc010osy.1_Missense_Mutation_p.A762S|TGFBR3_uc001doi.2_Missense_Mutation_p.A803S|TGFBR3_uc001doj.2_Missense_Mutation_p.A803S NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 804 Helical; (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TACCACAAGGCCCCCGTCAGG 0.483 NA 8 104 1.12685e-05 1.3442e-05 0.004482 1 0 EVI5 7813 broad.mit.edu 37 1 93170268 93170268 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:93170268A>G uc001dox.2 - 3 325 c.315T>C c.(313-315)TCT>TCC p.S105S EVI5_uc010otf.1_Silent_p.S105S NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 105 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) ACCCATTTACAGATCTTAAAG 0.368 NA 3 67 0 0 0.004672 0 0 COL11A1 1301 broad.mit.edu 37 1 103427822 103427822 + Splice_Site SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:103427822C>A uc001dul.2 - 40 3343 c.3025_splice c.e40-1 p.G1009_splice COL11A1_uc001duk.2_Splice_Site_p.G205_splice|COL11A1_uc001dum.2_Splice_Site_p.G1021_splice|COL11A1_uc001dun.2_Splice_Site_p.G970_splice|COL11A1_uc009weh.2_Splice_Site_p.G893_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) CTGGATCACCCTAAAGAATAT 0.388 NA 14 65 7.93312e-07 1.01678e-06 0.00245 1 0 COL11A1 1301 broad.mit.edu 37 1 103544311 103544311 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:103544311C>A uc001dul.2 - 3 709 c.391G>T c.(391-393)GTT>TTT p.V131F COL11A1_uc001dum.2_Missense_Mutation_p.V131F|COL11A1_uc001dun.2_Missense_Mutation_p.V131F|COL11A1_uc009weh.2_Missense_Mutation_p.V131F NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 131 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GATCTCCCAACCTCAACACCA 0.383 NA 8 41 5.18039e-06 6.34598e-06 0.00308 1 0 RBM15 64783 broad.mit.edu 37 1 110883214 110883214 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:110883214G>T uc001dzl.1 + 1 1270 c.1187G>T c.(1186-1188)CGC>CTC p.R396L RBM15_uc001dzm.1_Missense_Mutation_p.R396L|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 396 RRM 2. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GCGTTTGATCGCTTTGGAGTC 0.478 NA T MKL1 acute megakaryocytic leukemia 13 54 9.05144e-12 1.40972e-11 0.001855 1 0 HIPK1 204851 broad.mit.edu 37 1 114515660 114515660 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:114515660G>T uc001eem.2 + 16 3320 c.3159G>T c.(3157-3159)TCG>TCT p.S1053S HIPK1_uc001een.2_Silent_p.S1053S|HIPK1_uc001eeo.2_Silent_p.S679S|HIPK1_uc001eep.2_Silent_p.S659S|HIPK1_uc001eeq.2_Silent_p.S345S NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 1053 Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCAGTCATCGGCGGCTCCAA 0.587 NA 43 219 3.61848e-18 6.48686e-18 0.007835 1 0 GJA5 2702 broad.mit.edu 37 1 147231030 147231030 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:147231030C>T uc001eps.1 - 2 458 c.317G>A c.(316-318)CGC>CAC p.R106H GJA5_uc001ept.1_Missense_Mutation_p.R106H NM_181703 NP_859054 P36382 CXA5_HUMAN connexin 40 106 Cytoplasmic (Potential). angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane ovary(1) 1 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CCGTAGCTTGCGCTTCTCCTG 0.617 NA 25 155 0 0 0.00278 0 0 PRUNE 58497 broad.mit.edu 37 1 151006393 151006393 + Nonsense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:151006393A>T uc001ewh.1 + 8 1181 c.1045A>T c.(1045-1047)AAG>TAG p.K349* PRUNE_uc001ewi.1_Nonsense_Mutation_p.K167*|PRUNE_uc010pco.1_Nonsense_Mutation_p.K117*|PRUNE_uc001ewj.1_Nonsense_Mutation_p.K64*|PRUNE_uc001ewk.1_Nonsense_Mutation_p.K114*|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 349 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGTCTCTCGAAAGAAACTTCT 0.557 NA 71 175 0 0 0.01441 0 0 HRNR 388697 broad.mit.edu 37 1 152191370 152191370 + Missense_Mutation SNP C C A rs146160152 byFrequency TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:152191370C>A uc001ezt.1 - 3 2811 c.2735G>T c.(2734-2736)GGC>GTC p.G912V NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 912 10. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGACCGGAGCCAGACCCATG 0.642 NA 43 330 7.63091e-17 1.34279e-16 0.007835 1 0 HRNR 388697 broad.mit.edu 37 1 152193475 152193475 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:152193475A>G uc001ezt.1 - 3 706 c.630T>C c.(628-630)TCT>TCC p.S210S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 210 2. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCGGAGCCAGAGCCGTGTT 0.572 NA 34 225 0 0 0.010818 0 0 LCE1F 353137 broad.mit.edu 37 1 152749092 152749092 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:152749092G>T uc010pdv.1 + 1 245 c.245G>T c.(244-246)CGG>CTG p.R82L NM_178354 NP_848131 Q5T754 LCE1F_HUMAN late cornified envelope 1F 82 Poly-Arg. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CACCACAGACGGCGTAGGTCC 0.701 NA 8 78 0.000157383 0.00017807 0.00308 1 0 FCRL1 115350 broad.mit.edu 37 1 157769856 157769856 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:157769856A>G uc001frg.2 - 7 1136 c.1023T>C c.(1021-1023)GAT>GAC p.D341D FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.D341D|FCRL1_uc001fri.2_Silent_p.D302D|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 341 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACCTGAGTGGATCCCTGGCTG 0.388 GBM(54;482 1003 11223 30131 35730) NA 9 37 0 0 0.008291 0 0 OR10K2 391107 broad.mit.edu 37 1 158389873 158389873 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:158389873G>T uc010pii.1 - 1 784 c.784C>A c.(784-786)CCT>ACT p.P262T NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TTGGACTGAGGCCTTAAGTAG 0.413 NA 17 92 3.99206e-14 6.60504e-14 0.007413 1 0 OR10R2 343406 broad.mit.edu 37 1 158449763 158449763 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:158449763C>A uc010pik.1 + 1 96 c.96C>A c.(94-96)TTC>TTA p.F32L uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 32 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TCACCGAATTCCTGTTGCTGG 0.413 NA 37 145 4.62619e-21 8.49246e-21 0.004289 1 0 SPTA1 6708 broad.mit.edu 37 1 158627314 158627314 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:158627314G>T uc001fst.1 - 19 2957 c.2758C>A c.(2758-2760)CCT>ACT p.P920T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 920 Spectrin 10. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCTACAATAGGTTCCTTCTCT 0.458 NA 27 153 4.72057e-08 6.42522e-08 0.003954 1 0 SPTA1 6708 broad.mit.edu 37 1 158645987 158645988 + Missense_Mutation DNP CC CC AA TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:158645987_158645988CC>AA uc001fst.1 - 8 1254_1255 c.1055_1056GG>TT c.(1054-1056)TGG>TTT p.W352F NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 352 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GAATATGCTCCCAGCTGGAGAC 0.485 NA 39 100 0 0 0.004672 0 0 FCRLA 84824 broad.mit.edu 37 1 161683163 161683163 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:161683163C>T uc001gbe.2 + 6 1384 c.1142C>T c.(1141-1143)GCT>GTT p.A381V FCRLA_uc001gbd.2_Missense_Mutation_p.A375V|FCRLA_uc001gbf.2_Missense_Mutation_p.A286V|FCRLA_uc001gbg.2_Missense_Mutation_p.A235V|FCRLA_uc009wuo.2_Missense_Mutation_p.A241V|FCRLA_uc009wup.2_Missense_Mutation_p.A191V|FCRLA_uc009wuq.2_Missense_Mutation_p.A140V NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 358 cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) AAGGCTACTGCTGAATAGAAG 0.453 NA 8 74 0 0 0.004482 0 0 DUSP12 11266 broad.mit.edu 37 1 161722885 161722885 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:161722885C>G uc001gbo.2 + 5 706 c.695C>G c.(694-696)TCT>TGT p.S232C DUSP12_uc001gbp.2_Missense_Mutation_p.S102C NM_007240 NP_009171 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 232 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1) 1 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TTTCGAAGTTCTAGTATTCTG 0.418 NA 43 110 0 0 0.009718 0 0 UCK2 7371 broad.mit.edu 37 1 165859550 165859550 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:165859550C>T uc001gdp.2 + 2 390 c.209C>T c.(208-210)TCG>TTG p.S70L UCK2_uc010plb.1_5'UTR NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 70 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) GTCCTTACCTCGGAGCAGAAG 0.562 NA 13 71 0 0 0.013537 0 0 POU2F1 5451 broad.mit.edu 37 1 167381288 167381288 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:167381288T>C uc001gec.2 + 15 1741 c.1579T>C c.(1579-1581)TCC>CCC p.S527P POU2F1_uc001ged.2_Missense_Mutation_p.S525P|POU2F1_uc001gee.2_Missense_Mutation_p.S527P|POU2F1_uc010plh.1_Missense_Mutation_p.S464P|POU2F1_uc001gef.2_Missense_Mutation_p.S539P|POU2F1_uc001geg.2_Missense_Mutation_p.S425P|POU2F1_uc009wvg.1_RNA NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 527 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 TCTGAGTCCCTCCCCTTCTGC 0.592 NA 3 65 0 0 0.004672 0 0 BAT2L2 23215 broad.mit.edu 37 1 171504671 171504671 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:171504671G>A uc010pmg.1 + 13 2238 c.1972G>A c.(1972-1974)GCT>ACT p.A658T NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 658 protein C-terminus binding 0 ACCTCGGCCGGCTGTATTATC 0.443 NA 25 151 0 0 0.004656 0 0 RFWD2 64326 broad.mit.edu 37 1 176153798 176153798 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:176153798T>C uc001gku.1 - 2 694 c.438A>G c.(436-438)GCA>GCG p.A146A RFWD2_uc001gkv.1_Silent_p.A146A|RFWD2_uc001gkw.1_5'UTR|RFWD2_uc001gkt.1_Silent_p.A5A NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 146 RING-type. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TTGTCATGTATGCTTCTTCAA 0.279 Ovarian(134;1413 1765 5706 35534 51541) NA 28 146 0 0 0.009535 0 0 PRG4 10216 broad.mit.edu 37 1 186275895 186275895 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:186275895G>A uc001gru.3 + 7 1095 c.1044G>A c.(1042-1044)AAG>AAA p.K348K PRG4_uc001grt.3_Silent_p.K307K|PRG4_uc009wyl.2_Silent_p.K255K|PRG4_uc009wym.2_Silent_p.K214K|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 348 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCACTCCCAAGGAGCCCACGC 0.547 NA 54 134 0 0 0.01441 0 0 CFHR2 3080 broad.mit.edu 37 1 196927062 196927062 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:196927062G>T uc001gtq.1 + 4 549 c.472G>T c.(472-474)GGA>TGA p.G158* CFHR2_uc001gtr.1_Nonsense_Mutation_p.G34* NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 158 Sushi 3. extracellular region skin(2)|ovary(1) 3 TATTGACAATGGAGACATTAC 0.373 NA 13 91 4.36969e-10 6.41358e-10 0.001855 1 0 ASPM 259266 broad.mit.edu 37 1 197065239 197065239 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:197065239C>A uc001gtu.2 - 19 9133 c.8876G>T c.(8875-8877)TGC>TTC p.C2959F ASPM_uc001gtv.2_Missense_Mutation_p.C1374F|ASPM_uc001gtw.3_Missense_Mutation_p.C807F NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2959 IQ 35.|IQ 34. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTGAATCTTGCAGGCAGCTTT 0.328 NA 69 168 2.23399e-28 4.21022e-28 0.01441 1 0 CRB1 23418 broad.mit.edu 37 1 197396975 197396975 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:197396975G>A uc001gtz.2 + 7 2655 c.2520G>A c.(2518-2520)GAG>GAA p.E840E CRB1_uc010poz.1_Silent_p.E771E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.E728E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.E321E|CRB1_uc001gub.1_Silent_p.E489E NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 840 Extracellular (Potential).|Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ACAAGCAAGAGACTGAACTTA 0.388 NA 10 24 0 0 0.008291 0 0 KIF21B 23046 broad.mit.edu 37 1 200978394 200978394 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:200978394C>A uc001gvs.1 - 2 581 c.264G>T c.(262-264)CAG>CAT p.Q88H KIF21B_uc001gvr.1_Missense_Mutation_p.Q88H|KIF21B_uc009wzl.1_Missense_Mutation_p.Q88H|KIF21B_uc010ppn.1_Missense_Mutation_p.Q88H NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 88 Kinesin-motor.|ATP (By similarity). microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GATGGCTTACCTGCCCATAGG 0.562 NA 13 25 2.27111e-07 2.99523e-07 0.013537 1 0 PPP1R12B 4660 broad.mit.edu 37 1 202318255 202318255 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:202318255G>T uc001gya.1 + 1 420 c.276G>T c.(274-276)TTG>TTT p.L92F PPP1R12B_uc001gxy.2_Missense_Mutation_p.L92F|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.L92F|PPP1R12B_uc001gxz.1_Missense_Mutation_p.L92F NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 92 ANK 2. regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) TGGACGGCTTGACAGCCCTGC 0.572 NA 23 41 2.21704e-12 3.52182e-12 0.00278 1 0 IKBKE 9641 broad.mit.edu 37 1 206666379 206666379 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:206666379A>G uc001hdz.1 + 19 2227 c.1859A>G c.(1858-1860)CAC>CGC p.H620R IKBKE_uc009xbv.1_Missense_Mutation_p.H620R|IKBKE_uc001hea.1_Missense_Mutation_p.H535R NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 620 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) ACCAGGAACCACCTGCGCCTG 0.582 NA 4 16 0 0 0.000602 0 0 KCNK2 3776 broad.mit.edu 37 1 215342686 215342686 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:215342686T>C uc001hkq.2 + 4 789 c.620T>C c.(619-621)GTG>GCG p.V207A KCNK2_uc001hko.2_Missense_Mutation_p.V203A|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.V192A NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 207 Cytoplasmic (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) attgccaaagtggaAGATACG 0.204 NA 13 36 0 0 0.013537 0 0 USH2A 7399 broad.mit.edu 37 1 216369929 216369929 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:216369929G>T uc001hku.1 - 19 4604 c.4217C>A c.(4216-4218)TCA>TAA p.S1406* USH2A_uc001hkv.2_Nonsense_Mutation_p.S1406* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1406 Extracellular (Potential).|Fibronectin type-III 4. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTTGAGGTGATTGTTCAGA 0.393 NA HNSCC(13;0.011) 14 69 1.15088e-07 1.5337e-07 0.004007 1 0 MARK1 4139 broad.mit.edu 37 1 220792037 220792037 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:220792037C>G uc001hmn.3 + 9 1446 c.849C>G c.(847-849)GAC>GAG p.D283E MARK1_uc009xdw.2_Missense_Mutation_p.D283E|MARK1_uc010pun.1_Missense_Mutation_p.D283E|MARK1_uc001hmm.3_Missense_Mutation_p.D261E NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 283 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TGTCCACAGACTGTGAAAATC 0.333 NA 5 53 0 0 0.000602 0 0 C1orf65 164127 broad.mit.edu 37 1 223567834 223567834 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:223567834G>T uc001hoa.2 + 1 1120 c.1017G>T c.(1015-1017)GTG>GTT p.V339V NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 339 central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GGAAGAACGTGCCCCCGGGGG 0.687 NA 6 12 0.00116845 0.00128549 0.001168 1 0 LBR 3930 broad.mit.edu 37 1 225609925 225609925 + Nonsense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:225609925T>A uc001hoy.2 - 3 363 c.220A>T c.(220-222)AGA>TGA p.R74* LBR_uc001hoz.2_Nonsense_Mutation_p.R74*|LBR_uc001hpa.1_Nonsense_Mutation_p.R74* NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 74 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) CCTCGGCGTCTGGAAGGGGAA 0.527 NA 14 59 0 0 0.00245 0 0 LEFTY2 7044 broad.mit.edu 37 1 226125399 226125399 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:226125399C>G uc001hpt.1 - 4 923 c.843G>C c.(841-843)TGG>TGC p.W281C LEFTY2_uc010pvk.1_Missense_Mutation_p.W247C|LEFTY2_uc009xek.1_3'UTR NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 281 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) GCTCCAGCACCCAGTTCTTGG 0.652 Colon(172;116 2643 9098 43333) NA 14 26 0 0 0.001855 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367270 234367270 + Nonsense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:234367270C>T uc001hwa.1 + 2 412 c.184C>T c.(184-186)CAA>TAA p.Q62* SLC35F3_uc001hvy.1_Nonsense_Mutation_p.Q131* NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 62 transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CTCCCGGGCGCAACTCAAGAA 0.731 NA 15 110 0 0 0.00499 0 0 ACTN2 88 broad.mit.edu 37 1 236902752 236902752 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:236902752A>T uc001hyf.2 + 10 1231 c.1027A>T c.(1027-1029)ATC>TTC p.I343F ACTN2_uc001hyg.2_Missense_Mutation_p.I135F|ACTN2_uc009xgi.1_Missense_Mutation_p.I343F|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.I31F NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 343 Spectrin 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCAGCTGGAGATCAACTTCAA 0.582 NA 16 88 0 0 0.003163 0 0 MTR 4548 broad.mit.edu 37 1 237024505 237024505 + Missense_Mutation SNP T T G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:237024505T>G uc001hyi.3 + 20 2547 c.2124T>G c.(2122-2124)ATT>ATG p.I708M MTR_uc010pxw.1_Missense_Mutation_p.I301M|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Missense_Mutation_p.I562M NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 708 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TCAATATAATTGAAGGACCCC 0.333 NA 13 75 0 0 0.00245 0 0 RYR2 6262 broad.mit.edu 37 1 237993846 237993846 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:237993846G>T uc001hyl.1 + 103 14792 c.14672G>T c.(14671-14673)TGT>TTT p.C4891F RYR2_uc010pyb.1_Intron NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4891 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) TGCTTCATCTGTGGGATAGGC 0.428 NA 20 139 7.21436e-19 1.30555e-18 0.008871 1 0 CHRM3 1131 broad.mit.edu 37 1 240071786 240071786 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:240071786C>T uc001hyp.2 + 5 1814 c.1035C>T c.(1033-1035)TCC>TCT p.S345S NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 345 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CTGCTGCCTCCCTGGAGAACT 0.567 NA 11 26 0 0 0.008291 0 0 OR13G1 441933 broad.mit.edu 37 1 247836182 247836182 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:247836182C>A uc001idi.1 - 1 162 c.162G>T c.(160-162)ACG>ACT p.T54T NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 54 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATACATGGGCGTATGCAAGG 0.418 NA 17 35 3.52763e-06 4.34642e-06 0.00499 1 0 OR11L1 391189 broad.mit.edu 37 1 248004298 248004298 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:248004298C>A uc001idn.1 - 1 901 c.901G>T c.(901-903)GTT>TTT p.V301F NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACCTTTCTAACAGCTTCTTTG 0.393 NA 28 69 2.48779e-11 3.83711e-11 0.005443 1 0 OR2W3 343171 broad.mit.edu 37 1 248059468 248059468 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:248059468G>A uc001idp.1 + 3 849 c.580G>A c.(580-582)GCC>ACC p.A194T OR2W3_uc010pzb.1_Missense_Mutation_p.A194T NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAGCACTGTGGCCATCGAAGG 0.602 NA 11 124 0 0 0.00333 0 0 OR2T8 343172 broad.mit.edu 37 1 248085207 248085207 + Missense_Mutation SNP G G T rs151007478 byFrequency TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:248085207G>T uc010pzc.1 + 1 888 c.888G>T c.(886-888)AAG>AAT p.K296N NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTGAGGTGAAGGGAGCCCTGA 0.463 NA 63 157 1.02016e-41 1.95735e-41 0.01441 1 0 OR2L1P 26247 broad.mit.edu 37 1 248154016 248154016 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:248154016G>T uc001idv.1 + 1 448 c.204G>T c.(202-204)ATG>ATT p.M68I OR2L13_uc001ids.2_Intron NR_002145 RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53; 0 GATCTTGGATGATAGGCTCCA 0.438 NA 20 125 4.63292e-17 8.1977e-17 0.008871 1 0 SH3BP5L 80851 broad.mit.edu 37 1 249106196 249106196 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:249106196C>A uc001iew.1 - 7 1637 c.1085G>T c.(1084-1086)AGT>ATT p.S362I SH3BP5L_uc010pzp.1_Missense_Mutation_p.S255I|SH3BP5L_uc010pzq.1_Missense_Mutation_p.S330I|SH3BP5L_uc001iev.1_Missense_Mutation_p.S243I NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 362 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GCCGTCCAGACTGACGTGGTC 0.692 NA 9 23 1.76689e-08 2.45209e-08 0.006214 1 0 GDI2 2665 broad.mit.edu 37 10 5808594 5808594 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:5808594G>A uc001iil.3 - 9 1290 c.999C>T c.(997-999)TAC>TAT p.Y333Y GDI2_uc001iim.3_Silent_p.Y288Y|GDI2_uc009xid.2_Silent_p.Y337Y NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 333 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 TCATGCAGACGTAGATATCTA 0.448 NA 11 72 0 0 0.008291 0 0 PRKCQ 5588 broad.mit.edu 37 10 6527227 6527227 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:6527227C>A uc001ijj.1 - 10 980 c.905G>T c.(904-906)CGC>CTC p.R302L PRKCQ_uc009xim.1_Missense_Mutation_p.R302L|PRKCQ_uc001iji.1_Missense_Mutation_p.R335L|PRKCQ_uc009xin.1_Missense_Mutation_p.R266L|PRKCQ_uc010qax.1_Missense_Mutation_p.R177L NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 302 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 TCTTAAGCAGCGAGCCTGGAT 0.488 Ovarian(50;572 1126 10530 25349 30594) NA 20 89 8.00594e-06 9.65868e-06 0.007413 1 0 GPR158 57512 broad.mit.edu 37 10 25701316 25701316 + Nonsense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:25701316C>T uc001isj.2 + 4 1309 c.1249C>T c.(1249-1251)CGA>TGA p.R417* NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 417 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TAAGTATTTACGACTTGCCAT 0.512 NA 7 223 0 0 0.006214 0 0 GAD2 2572 broad.mit.edu 37 10 26559665 26559665 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:26559665A>G uc001isp.2 + 10 1575 c.1072A>G c.(1072-1074)AAG>GAG p.K358E GAD2_uc001isq.2_Missense_Mutation_p.K358E NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 358 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CAAAAAGTATAAGATCTGGAT 0.468 NA 22 111 0 0 0.014323 0 0 PCDH15 65217 broad.mit.edu 37 10 56128918 56128918 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:56128918T>A uc001jju.1 - 5 831 c.436A>T c.(436-438)ACT>TCT p.T146S PCDH15_uc010qhq.1_Missense_Mutation_p.T151S|PCDH15_uc010qhr.1_Missense_Mutation_p.T146S|PCDH15_uc010qhs.1_Missense_Mutation_p.T151S|PCDH15_uc010qht.1_Missense_Mutation_p.T146S|PCDH15_uc010qhu.1_Missense_Mutation_p.T146S|PCDH15_uc001jjv.1_Missense_Mutation_p.T124S|PCDH15_uc010qhv.1_Missense_Mutation_p.T146S|PCDH15_uc010qhw.1_Missense_Mutation_p.T146S|PCDH15_uc010qhx.1_Missense_Mutation_p.T146S|PCDH15_uc010qhy.1_Missense_Mutation_p.T151S|PCDH15_uc010qhz.1_Missense_Mutation_p.T146S|PCDH15_uc010qia.1_Missense_Mutation_p.T124S|PCDH15_uc010qib.1_Missense_Mutation_p.T124S|PCDH15_uc001jjw.2_Missense_Mutation_p.T146S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 146 Cadherin 1.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGCTTGAAAGTGGGTGAGTTG 0.408 NA HNSCC(58;0.16) 7 27 0 0 0.00308 0 0 HERC4 26091 broad.mit.edu 37 10 69700789 69700789 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:69700789A>T uc001jng.3 - 21 2746 c.2435T>A c.(2434-2436)GTG>GAG p.V812E HERC4_uc009xpq.2_Missense_Mutation_p.V345E|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.V804E|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.V548E NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 812 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 ATGGAGGTCCACAATGGTACA 0.333 NA 19 70 0 0 0.010504 0 0 GRID1 2894 broad.mit.edu 37 10 87484184 87484184 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:87484184C>A uc001kdl.1 - 11 1884 c.1783G>T c.(1783-1785)GCC>TCC p.A595S GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.A166S NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 595 Cytoplasmic (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CTGGGCTGGGCAGCACTCTGA 0.542 NA Multiple Myeloma(13;0.14) 7 36 8.12818e-05 9.31233e-05 0.001984 1 0 OPN4 94233 broad.mit.edu 37 10 88415988 88415988 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:88415988G>T uc001kdq.2 + 2 448 c.221G>T c.(220-222)GGC>GTC p.G74V OPN4_uc001kdp.2_Missense_Mutation_p.G74V|OPN4_uc010qmk.1_Missense_Mutation_p.G74V NM_033282 NP_150598 Q9UHM6 OPN4_HUMAN opsin 4 isoform 1 74 Helical; Name=1; (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity ovary(1) 1 TATACCCTGGGCACAGTGATC 0.622 NA 11 94 0.000673444 0.000748663 0.008291 1 0 CEP55 55165 broad.mit.edu 37 10 95276916 95276916 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:95276916G>T uc009xug.2 + 6 1086 c.904G>T c.(904-906)GAG>TAG p.E302* CEP55_uc001kiq.3_Nonsense_Mutation_p.E302* NM_001127182 NP_001120654 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 302 Potential. cell division|mitosis centriole|cleavage furrow|midbody 0 Colorectal(252;0.207) GCATAAAACAGAGAAGATACA 0.368 NA 24 80 6.32553e-13 1.02528e-12 0.004656 1 0 AS3MT 57412 broad.mit.edu 37 10 104638606 104638606 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:104638606G>T uc001kwk.2 + 9 883 c.743G>T c.(742-744)GGT>GTT p.G248V AS3MT_uc001kwj.2_Missense_Mutation_p.G250V|AS3MT_uc009xxh.2_Missense_Mutation_p.G248V NM_020682 NP_065733 Q9HBK9 AS3MT_HUMAN arsenic (+3 oxidation state) methyltransferase 248 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) CTATTTTTAGGTGACTGTCGT 0.413 NA 10 33 7.48243e-07 9.64839e-07 0.006214 1 0 ATRNL1 26033 broad.mit.edu 37 10 117026348 117026348 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:117026348A>T uc001lcg.2 + 12 2233 c.1847A>T c.(1846-1848)AAG>ATG p.K616M NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 616 PSI 1.|Kelch 6.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CCAAATTGCAAGGCTTTCAGA 0.338 NA 20 70 0 0 0.008871 0 0 GFRA1 2674 broad.mit.edu 37 10 118030531 118030531 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:118030531T>C uc001lcj.2 - 3 835 c.137A>G c.(136-138)TAC>TGC p.Y46C GFRA1_uc001lci.2_Missense_Mutation_p.Y46C|GFRA1_uc009xyr.2_Missense_Mutation_p.Y46C NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 46 1. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) TAGCGTGCGGTACTTGGTGCT 0.642 Ovarian(128;329 1725 45498 46808 50759) NA 7 67 0 0 0.00308 0 0 TACC2 10579 broad.mit.edu 37 10 123970146 123970146 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr10:123970146G>T uc001lfv.2 + 9 6566 c.6206G>T c.(6205-6207)CGG>CTG p.R2069L TACC2_uc001lfw.2_Missense_Mutation_p.R215L|TACC2_uc009xzx.2_Missense_Mutation_p.R2024L|TACC2_uc010qtv.1_Missense_Mutation_p.R2073L|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.R147L|TACC2_uc001lga.2_Missense_Mutation_p.R147L|TACC2_uc009xzy.2_Missense_Mutation_p.R147L|TACC2_uc001lgb.2_Missense_Mutation_p.R104L|TACC2_uc010qtw.1_Missense_Mutation_p.R164L NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2069 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTGAACACACGGAGGAAGTCC 0.517 NA 18 83 1.67942e-08 2.35118e-08 0.006122 1 0 MUC2 4583 broad.mit.edu 37 11 1104128 1104128 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:1104128C>T uc001lsx.1 + 52 15432 c.15405C>T c.(15403-15405)AGC>AGT p.S5135S NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 5135 CTCK. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGGTCCTGAGCTGCCCCAATG 0.682 NA 4 24 0 0 0.009096 0 0 OR51E2 81285 broad.mit.edu 37 11 4703067 4703067 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:4703067C>A uc001lzk.2 - 2 1119 c.875G>T c.(874-876)GGT>GTT p.G292V NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GGTTTTGGCACCATAGATGAT 0.507 NA 10 50 7.48243e-07 9.64839e-07 0.006214 1 0 OR2D2 120776 broad.mit.edu 37 11 6913354 6913354 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:6913354G>C uc010rau.1 - 1 378 c.378C>G c.(376-378)ATC>ATG p.I126M NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAGGATTGCAGATTGCAACAT 0.493 NA 14 63 0 0 0.003163 0 0 SYT9 143425 broad.mit.edu 37 11 7324419 7324419 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:7324419C>T uc001mfe.2 + 2 532 c.295C>T c.(295-297)CTT>TTT p.L99F SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 99 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CCAGGAGCCCCTTAACTACAT 0.547 NA 31 110 0 0 0.012213 0 0 NLRP10 338322 broad.mit.edu 37 11 7982838 7982838 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:7982838G>T uc001mfv.1 - 2 338 c.321C>A c.(319-321)CGC>CGA p.R107R NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 107 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCTCTAGGCAGCGCACATGCT 0.512 NA 18 67 3.51602e-12 5.55757e-12 0.008871 1 0 KCNC1 3746 broad.mit.edu 37 11 17793517 17793517 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:17793517G>A uc001mnk.3 + 2 931 c.876G>A c.(874-876)GAG>GAA p.E292E KCNC1_uc009yhc.1_Silent_p.E292E NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 292 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 TCTACCTGGAGGTGGGGCTGA 0.572 NA 13 92 0 0 0.001855 0 0 GAS2 2620 broad.mit.edu 37 11 22707280 22707280 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:22707280C>T uc009yie.2 + 3 518 c.212C>T c.(211-213)GCA>GTA p.A71V GAS2_uc001mqm.2_Missense_Mutation_p.A71V|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.A71V NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 71 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 TGTCAACTTGCAGAAACTATG 0.388 NA 10 51 0 0 0.001855 0 0 BBOX1 8424 broad.mit.edu 37 11 27147268 27147268 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:27147268G>T uc001mre.1 + 8 1272 c.904G>T c.(904-906)GTG>TTG p.V302L BBOX1_uc009yih.1_Missense_Mutation_p.V302L|BBOX1_uc001mrg.1_Missense_Mutation_p.V302L NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 302 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) aatatttgatgtgcctgttga 0.144 NA 4 31 0.00909568 0.00960854 0.009096 1 0 QSER1 79832 broad.mit.edu 37 11 32953644 32953644 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:32953644G>T uc001mty.2 + 4 720 c.453G>T c.(451-453)TTG>TTT p.L151F QSER1_uc001mtz.1_Missense_Mutation_p.L151F|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 151 Ser-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) AATTTAGTTTGTTGCCTTCAG 0.458 NA 26 130 5.45024e-15 9.20903e-15 0.00333 1 0 CSTF3 1479 broad.mit.edu 37 11 33108609 33108609 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:33108609C>T uc001muh.2 - 18 1886 c.1720G>A c.(1720-1722)GAA>AAA p.E574K TCP11L1_uc001muf.1_Intron NM_001326 NP_001317 Q12996 CSTF3_HUMAN cleavage stimulation factor subunit 3 isoform 1 574 Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding 0 CTATCCACTTCATCTTTCAGA 0.438 NA 39 230 0 0 0.004289 0 0 OR4C46 119749 broad.mit.edu 37 11 51515712 51515712 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:51515712G>T uc010ric.1 + 1 431 c.431G>T c.(430-432)GGA>GTA p.G144V NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTGCTAATGGGAGTGGTGTGG 0.453 NA 24 159 7.87624e-14 1.29643e-13 0.00278 1 0 TRIM48 79097 broad.mit.edu 37 11 55032685 55032685 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:55032685G>A uc010rid.1 + 2 440 c.354G>A c.(352-354)ATG>ATA p.M118I NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 102 B box-type. intracellular zinc ion binding 0 CAAAGAAGATGTTCTGTGAAG 0.532 NA 9 87 0 0 0.004482 0 0 OR5D13 390142 broad.mit.edu 37 11 55541127 55541127 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:55541127G>A uc010ril.1 + 1 214 c.214G>A c.(214-216)GAC>AAC p.D72N NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) GTCCTTGACAGACTTCTGTTT 0.388 NA 27 109 0 0 0.004656 0 0 SPRYD5 84767 broad.mit.edu 37 11 55653015 55653015 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:55653015C>A uc010rip.1 + 2 203 c.111C>A c.(109-111)CCC>CCA p.P37P SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 37 RING-type. intracellular zinc ion binding 0 all_epithelial(135;0.226) TTTGCCGGCCCTGTTTGTACC 0.507 NA 9 58 1.58986e-06 2.01341e-06 0.008291 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735603 55735603 + Missense_Mutation SNP G G C rs150679428 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:55735603G>C uc010rit.1 - 1 337 c.337C>G c.(337-339)CGC>GGC p.R113G NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 113 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GCCACGTAGCGGTCATAGGCC 0.428 NA 13 47 0 0 0.013537 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735739 55735739 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:55735739G>T uc010rit.1 - 1 201 c.201C>A c.(199-201)ATC>ATA p.I67I NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 67 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) TTGGGATAATGATTGTTACAT 0.348 NA 14 63 9.05144e-12 1.40972e-11 0.001855 1 0 OR8H2 390151 broad.mit.edu 37 11 55872682 55872682 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:55872682A>T uc010riy.1 + 1 164 c.164A>T c.(163-165)CAG>CTG p.Q55L NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CTGGACCTCCAGCTTCACACT 0.423 NA HNSCC(53;0.14) 61 278 0 0 0.01441 0 0 OR5J2 282775 broad.mit.edu 37 11 55944520 55944520 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:55944520G>A uc010rjb.1 + 1 427 c.427G>A c.(427-429)GAG>AAG p.E143K NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) AAAGTGTGTGGAGCTTGTCAC 0.458 NA 22 89 0 0 0.010504 0 0 OR9G4 283189 broad.mit.edu 37 11 56510406 56510406 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:56510406G>T uc010rjo.1 - 1 882 c.882C>A c.(880-882)ACC>ACA p.T294T NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 294 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GGTTGATCACGGTGTAGAACA 0.438 NA 11 74 5.16669e-11 7.85484e-11 0.010729 1 0 OR9Q1 219956 broad.mit.edu 37 11 57947124 57947124 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:57947124G>T uc001nmj.2 + 3 524 c.208G>T c.(208-210)GAC>TAC p.D70Y NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) CGCTTTCATGGACGTCTGCTA 0.498 NA 29 144 1.7881e-09 2.57697e-09 0.008361 1 0 OR4D6 219983 broad.mit.edu 37 11 59225093 59225093 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:59225093C>T uc010rku.1 + 1 660 c.660C>T c.(658-660)GTC>GTT p.V220V NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCTACACTGTCATTCTGGTGA 0.567 NA 18 93 0 0 0.006122 0 0 OR4D11 219986 broad.mit.edu 37 11 59271238 59271238 + Missense_Mutation SNP C C T rs114830141 byFrequency TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:59271238C>T uc001noa.1 + 1 190 c.190C>T c.(190-192)CGC>TGC p.R64C NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTCCTGCTCCGCAATCTAGC 0.488 NA 52 217 0 0 0.01441 0 0 MRPL16 54948 broad.mit.edu 37 11 59573868 59573868 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:59573868G>T uc001noh.2 - 4 922 c.708C>A c.(706-708)ACC>ACA p.T236T NM_017840 NP_060310 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 precursor 236 rRNA binding central_nervous_system(1) 1 TCCCCTTGTGGGTCAAGTCAT 0.463 NA 44 178 3.4345e-17 6.1111e-17 0.011902 1 0 PLAC1L 219990 broad.mit.edu 37 11 59814444 59814444 + Silent SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:59814444T>A uc001nol.2 + 4 560 c.375T>A c.(373-375)TCT>TCA p.S125S NM_173801 NP_776162 Q86WS3 PLACL_HUMAN placenta-specific 1-like precursor 125 extracellular region ovary(2)|skin(1) 3 CACCAGTTTCTACTGAGAATG 0.373 NA 22 93 0 0 0.00333 0 0 MS4A13 503497 broad.mit.edu 37 11 60310044 60310044 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:60310044C>T uc001nps.2 + 7 778 c.455C>T c.(454-456)CCT>CTT p.P152L MS4A13_uc009ync.2_Missense_Mutation_p.P112L|MS4A13_uc009ynd.2_Missense_Mutation_p.P93L NM_001012417 NP_001012417 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 152 integral to membrane 0 GAGAGCACTCCTTAAAAACCC 0.358 NA 3 8 0 0 0.004672 0 0 SYT7 9066 broad.mit.edu 37 11 61295600 61295600 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:61295600C>A uc001nrv.2 - 5 415 c.409G>T c.(409-411)GGC>TGC p.G137C SYT7_uc009ynr.2_Missense_Mutation_p.G212C NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 137 C2 1.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 TGGATCCGGCCCAGGTTCTCT 0.647 NA 24 66 6.36457e-07 8.2571e-07 0.003954 1 0 TMEM179B 374395 broad.mit.edu 37 11 62557391 62557391 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:62557391G>C uc001nvd.3 + 5 562 c.532G>C c.(532-534)GTG>CTG p.V178L NM_199337 NP_955369 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 178 Helical; (Potential). integral to membrane 0 ATTGTGGTGTGTGGTCTTGGT 0.557 NA 21 184 0 0 0.012319 0 0 NRXN2 9379 broad.mit.edu 37 11 64393933 64393933 + Splice_Site SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:64393933A>G uc001oap.2 - 5 1220 c.709_splice c.e5+1 p.G237_splice NRXN2_uc001oar.2_Splice_Site_p.G1283_splice|NRXN2_uc001oas.2_Intron|NRXN2_uc001oao.2_5'Flank|NRXN2_uc001oaq.2_Splice_Site_p.G950_splice NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CTGGTTAATTACCTTTGTCGA 0.433 NA 15 37 0 0 0.00245 0 0 MAP4K2 5871 broad.mit.edu 37 11 64564003 64564003 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:64564003C>A uc001obh.2 - 23 1687 c.1595G>T c.(1594-1596)TGG>TTG p.W532L MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.W524L NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 532 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 GCAGTAGAGCCAGGAGCAGCG 0.657 NA 14 77 0.000151284 0.000171779 0.001855 1 0 POLA2 23649 broad.mit.edu 37 11 65043444 65043444 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:65043444C>T uc001odj.2 + 5 778 c.436C>T c.(436-438)CTC>TTC p.L146F POLA2_uc009yqf.1_Missense_Mutation_p.L146F|POLA2_uc010rod.1_5'UTR NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 146 Pro/Ser/Thr-rich. 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) CCATCAGCTACTCTCACCGTC 0.483 NA 10 76 0 0 0.013537 0 0 C11orf82 220042 broad.mit.edu 37 11 82643414 82643414 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:82643414G>C uc001ozt.2 + 6 1278 c.1034G>C c.(1033-1035)CGA>CCA p.R345P C11orf82_uc010rsr.1_Missense_Mutation_p.R44P|C11orf82_uc010rss.1_Missense_Mutation_p.R44P|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 345 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 TTGGAAATGCGAGAGCCCCTT 0.403 NA 38 115 0 0 0.004289 0 0 CREBZF 58487 broad.mit.edu 37 11 85375677 85375677 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:85375677C>T uc001pas.2 - 1 506 c.243G>A c.(241-243)GAG>GAA p.E81E CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA NM_001039618 NP_001034707 Q9NS37 ZHANG_HUMAN HCF-binding transcription factor Zhangfei 81 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) CCTCCATCTCCTCGGGGGAGG 0.697 NSCLC(172;674 2044 9050 18334 41735) NA 23 111 0 0 0.00333 0 0 NOX4 50507 broad.mit.edu 37 11 89166020 89166020 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:89166020A>G uc001pct.2 - 7 719 c.480T>C c.(478-480)CCT>CCC p.P160P NOX4_uc009yvr.2_Silent_p.P135P|NOX4_uc001pcu.2_Silent_p.P86P|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.P160P|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_5'UTR|NOX4_uc009yvp.2_Silent_p.P160P|NOX4_uc010rtv.1_Silent_p.P136P|NOX4_uc009yvq.2_Silent_p.P136P|NOX4_uc009yvs.1_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 160 Ferric oxidoreductase.|Helical; (Potential). cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CTGTCAGGCCAGGAACTATAA 0.343 NA 4 16 0 0 0.009096 0 0 FOLH1B 219595 broad.mit.edu 37 11 89413826 89413826 + Silent SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:89413826A>T uc001pda.2 + 8 1024 c.498A>T c.(496-498)GTA>GTT p.V166V NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 166 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 ACAGCTTGGTATACAACCTAA 0.289 NA 7 27 0 0 0.006214 0 0 C11orf87 399947 broad.mit.edu 37 11 109294692 109294692 + Silent SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:109294692T>A uc001pkn.2 + 2 707 c.333T>A c.(331-333)GGT>GGA p.G111G C11orf87_uc010rwb.1_5'Flank NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN hypothetical protein LOC399947 precursor 111 Cytoplasmic (Potential). integral to membrane ovary(2) 2 GCAGCCGCGGTGGCGGGGGGC 0.657 NA 17 76 0 0 0.014323 0 0 DRD2 1813 broad.mit.edu 37 11 113281557 113281557 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:113281557G>T uc001pnz.2 - 7 1545 c.1224C>A c.(1222-1224)TAC>TAA p.Y408* DRD2_uc010rwv.1_Nonsense_Mutation_p.Y407*|DRD2_uc001poa.3_Nonsense_Mutation_p.Y408*|DRD2_uc001pob.3_Nonsense_Mutation_p.Y379* NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 408 Extracellular (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) TGAAGGCGCTGTACAGGACAG 0.557 NA 14 94 4.36969e-10 6.41358e-10 0.001855 1 0 FAM55A 120400 broad.mit.edu 37 11 114392778 114392778 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:114392778A>T uc001ppa.2 - 6 1547 c.1130T>A c.(1129-1131)ATG>AAG p.M377K FAM55A_uc010rxd.1_Missense_Mutation_p.M226K NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 519 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) TGCAATGGTCATGTCCCAGGC 0.398 NA 22 60 0 0 0.014323 0 0 OR6M1 390261 broad.mit.edu 37 11 123676321 123676321 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:123676321G>T uc010rzz.1 - 1 737 c.737C>A c.(736-738)TCC>TAC p.S246Y NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GTGGGCAATGGAGACAACAGT 0.512 NA 13 41 2.27111e-07 2.99523e-07 0.013537 1 0 ADAMTS8 11095 broad.mit.edu 37 11 130275652 130275652 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:130275652G>T uc001qgg.3 - 9 2829 c.2471C>A c.(2470-2472)ACC>AAC p.T824N ADAMTS8_uc001qgf.2_Missense_Mutation_p.T305N NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 824 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GATGTTGGTGGTTGCTCTCTC 0.572 NA 47 191 2.64894e-19 4.82107e-19 0.01441 1 0 ADAMTS8 11095 broad.mit.edu 37 11 130278466 130278466 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:130278466G>T uc001qgg.3 - 8 2350 c.1992C>A c.(1990-1992)GCC>GCA p.A664A ADAMTS8_uc001qgf.2_Silent_p.A145A NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 664 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGTCACAGCCGGCCTTGACAC 0.627 NA 18 117 6.94344e-10 1.01212e-09 0.006122 1 0 IGSF9B 22997 broad.mit.edu 37 11 133799663 133799663 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:133799663C>A uc001qgx.3 - 12 1765 c.1534G>T c.(1534-1536)GCC>TCC p.A512S IGSF9B_uc001qgy.1_Missense_Mutation_p.A354S NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 512 Extracellular (Potential).|Fibronectin type-III 1. integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGCCCGGGGCATGGGGGCTG 0.592 NA 14 49 3.27435e-08 4.48551e-08 0.00245 1 0 KCNA5 3741 broad.mit.edu 37 12 5154561 5154561 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:5154561C>T uc001qni.2 + 1 1477 c.1248C>T c.(1246-1248)CAC>CAT p.H416H NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 416 Helical; Voltage-sensor; Name=Segment S4; (Potential). Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TCTCCCGCCACTCCAAGGGGC 0.627 NA 6 31 0 0 0.001984 0 0 VWF 7450 broad.mit.edu 37 12 6181546 6181546 + Nonsense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:6181546C>A uc001qnn.1 - 9 1310 c.1060G>T c.(1060-1062)GGA>TGA p.G354* VWF_uc010set.1_Nonsense_Mutation_p.G354* NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 354 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) TAGCGCTTTCCGGAATGCACG 0.632 NA 17 87 5.3912e-06 6.59155e-06 0.006122 1 0 CLEC6A 93978 broad.mit.edu 37 12 8628803 8628804 + Missense_Mutation DNP GG GG TT TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:8628803_8628804GG>TT uc001qum.1 + 5 569_570 c.452_453GG>TT c.(451-453)TGG>TTT p.W151F NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN dectin-2 151 Extracellular (Potential).|C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1) 1 Lung SC(5;0.184) aattggcaatggattgataaga 0.119 NA 14 65 0 0 0.004672 0 0 DDX12 440081 broad.mit.edu 37 12 9573176 9573176 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:9573176G>A uc010sgs.1 - 21 2332 c.2137C>T c.(2137-2139)CTG>TTG p.L713L DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 ACCTGGCGCAGGTACTCGTAG 0.577 NA 4 34 0 0 0.009096 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769510 13769510 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:13769510C>T uc001rbt.2 - 5 1386 c.1207G>A c.(1207-1209)GAT>AAT p.D403N NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 403 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGATGGTCATCCTCCTGCTCT 0.527 NA 15 80 0 0 0.003163 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:25398285C>G uc001rgp.1 - 2 215 c.34G>C c.(34-36)GGT>CGT p.G12R KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 10 0 0 0.004672 0 0 ITPR2 3709 broad.mit.edu 37 12 26753039 26753039 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:26753039C>G uc001rhg.2 - 29 4099 c.3682G>C c.(3682-3684)GAT>CAT p.D1228H NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1228 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) ATCTTTTCATCATTCTGTAAG 0.343 NA 3 19 0 0 0.004672 0 0 Unknown 0 broad.mit.edu 37 12 31311920 31311920 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:31311920C>T uc010sjy.1 - 5 510 c.510G>A c.(508-510)TCG>TCA p.S170S RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA TCAGTTGGAACGAGAGTTGGG 0.333 NA 13 178 0 0 0.001855 0 0 KIAA0748 9840 broad.mit.edu 37 12 55356595 55356595 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:55356595A>G uc001sgn.3 - 9 1197 c.1087T>C c.(1087-1089)TGC>CGC p.C363R KIAA0748_uc001sgl.3_Missense_Mutation_p.C225R|KIAA0748_uc001sgm.3_Missense_Mutation_p.C110R|KIAA0748_uc010spb.1_Missense_Mutation_p.C110R|KIAA0748_uc010spc.1_Missense_Mutation_p.C225R|KIAA0748_uc010spd.1_Missense_Mutation_p.C363R|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 363 ovary(1)|central_nervous_system(1) 2 TCTTCACAGCAGAAGACACAT 0.527 NA 13 40 0 0 0.001855 0 0 E2F7 144455 broad.mit.edu 37 12 77421680 77421680 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:77421680C>A uc001sym.3 - 11 2359 c.2123G>T c.(2122-2124)TGT>TTT p.C708F E2F7_uc009zse.2_Missense_Mutation_p.C195F NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 708 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 AGACTGCACACAAAGATATTG 0.403 NA 13 38 0.000308642 0.000347359 0.003163 1 0 PLXNC1 10154 broad.mit.edu 37 12 94694764 94694764 + Silent SNP C C T rs113780946 by1000genomes TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:94694764C>T uc001tdc.2 + 28 4566 c.4317C>T c.(4315-4317)GAC>GAT p.D1439D PLXNC1_uc010sut.1_Silent_p.D486D|PLXNC1_uc009zsv.2_Silent_p.D178D NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1439 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CACATATAGACGGCTGTTTGT 0.443 NA 16 56 0 0 0.004007 0 0 C12orf63 374467 broad.mit.edu 37 12 97137624 97137624 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:97137624C>T uc001tet.1 + 21 2846 c.2768C>T c.(2767-2769)TCT>TTT p.S923F NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 923 skin(6)|ovary(1) 7 TTCAAGGAATCTCCCTCTTCA 0.398 NA 3 27 0 0 0.004672 0 0 C12orf51 283450 broad.mit.edu 37 12 112669411 112669411 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:112669411T>C uc009zwc.2 - 32 4858 c.4840A>G c.(4840-4842)ATC>GTC p.I1614V NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TCTGGGTTGATAGACTCTACA 0.532 NA 16 58 0 0 0.00499 0 0 FZD10 11211 broad.mit.edu 37 12 130648510 130648510 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:130648510G>A uc001uii.2 + 1 1479 c.1023G>A c.(1021-1023)AAG>AAA p.K341K uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 341 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCGGCAAGAAGTGGGGCCACG 0.647 NA 8 38 0 0 0.00308 0 0 ZMYM2 7750 broad.mit.edu 37 13 20656961 20656961 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:20656961G>T uc001umr.2 + 24 3907 c.3609G>T c.(3607-3609)AGG>AGT p.R1203S ZMYM2_uc001ums.2_Missense_Mutation_p.R1203S|ZMYM2_uc001umt.2_Missense_Mutation_p.R1203S|ZMYM2_uc001umv.2_Missense_Mutation_p.R583S|ZMYM2_uc001umw.2_Missense_Mutation_p.R656S NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 1203 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) ATCTCTGGAGGATAAAACAAC 0.313 NA 7 27 0.00198382 0.00216386 0.001984 1 0 CDK8 1024 broad.mit.edu 37 13 26975623 26975623 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:26975623G>C uc001uqr.1 + 12 1157 c.1131G>C c.(1129-1131)CAG>CAC p.Q377H CDK8_uc001uqs.1_Missense_Mutation_p.Q376H|CDK8_uc001uqt.1_Missense_Mutation_p.Q204H NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 377 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGCAGCAGCAGGGCAATAACC 0.468 NA 9 30 0 0 0.004482 0 0 CDX2 1045 broad.mit.edu 37 13 28542718 28542718 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:28542718G>T uc001urv.2 - 1 600 c.426C>A c.(424-426)CCC>CCA p.P142P NM_001265 NP_001256 Q99626 CDX2_HUMAN caudal type homeobox 2 142 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) CAGGAGGGCCGGGGTTGAGCG 0.607 NA T ETV6 AML 6 6 5.9392e-07 7.72096e-07 0.001168 1 0 MTUS2 23281 broad.mit.edu 37 13 29608247 29608247 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:29608247A>T uc001usl.3 + 2 2519 c.2461A>T c.(2461-2463)AGT>TGT p.S821C NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 811 Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CAGTCTCTACAGTTCCGATCC 0.453 NA 10 42 0 0 0.006214 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53216956 53216956 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:53216956G>T uc001vgx.1 + 7 1402 c.329G>T c.(328-330)GGT>GTT p.G110V HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.G110V|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.G110V NM_001011724 NP_001011724 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 110 Globular B domain.|RRM 2. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding 0 ATATTTGTTGGTGGCATTAAA 0.408 NA 3 26 0.004672 0.00501021 0.004672 1 0 OLFM4 10562 broad.mit.edu 37 13 53624469 53624469 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:53624469A>T uc001vhl.2 + 5 1096 c.1096A>T c.(1096-1098)AAT>TAT p.N366Y OLFM4_uc001vhk.1_3'UTR NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 366 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) AACTCTCCCTAATGCTGCCTA 0.403 NA 30 140 0 0 0.008361 0 0 PCDH17 27253 broad.mit.edu 37 13 58207657 58207657 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:58207657T>A uc001vhq.1 + 1 1869 c.977T>A c.(976-978)CTG>CAG p.L326Q PCDH17_uc010aec.1_Missense_Mutation_p.L326Q NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 326 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCCCGAGACCTGGGGCCTAAC 0.597 Melanoma(72;952 1291 1619 12849 33676) NA 11 71 0 0 0.008291 0 0 NALCN 259232 broad.mit.edu 37 13 101726022 101726022 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:101726022T>C uc001vox.1 - 37 4300 c.4111A>G c.(4111-4113)AAT>GAT p.N1371D NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1371 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GAAGAAAAATTTGCATGCCTA 0.358 NA 3 33 0 0 0.004672 0 0 SLC10A2 6555 broad.mit.edu 37 13 103710636 103710636 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:103710636G>C uc001vpy.3 - 2 1071 c.474C>G c.(472-474)ATC>ATG p.I158M NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 158 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGGAATTACGATGCTCCCAG 0.502 NA 15 87 0 0 0.00245 0 0 MYO16 23026 broad.mit.edu 37 13 109707814 109707814 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr13:109707814C>T uc001vqt.1 + 27 3266 c.3140C>T c.(3139-3141)TCA>TTA p.S1047L MYO16_uc010agk.1_Missense_Mutation_p.S1069L|MYO16_uc001vqu.1_Missense_Mutation_p.S847L|MYO16_uc010tjh.1_Missense_Mutation_p.S559L NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1047 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCCAATAACTCAAAGCTGCCA 0.403 NA 15 53 0 0 0.00245 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216098 20216098 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:20216098G>T uc010tkt.1 + 1 512 c.512G>T c.(511-513)GGG>GTG p.G171V NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTTTCTGTGGGCCCAATGAA 0.512 NA 8 104 0.00621372 0.00663005 0.006214 1 0 OR4E2 26686 broad.mit.edu 37 14 22133904 22133904 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:22133904G>T uc010tmd.1 + 1 608 c.608G>T c.(607-609)AGT>ATT p.S203I NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GTGACCAATAGTGGAACCATC 0.493 NA 22 60 4.35082e-09 6.20016e-09 0.010504 1 0 AKAP6 9472 broad.mit.edu 37 14 33291625 33291625 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:33291625A>G uc001wrq.2 + 13 4776 c.4606A>G c.(4606-4608)ATG>GTG p.M1536V NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1536 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATCTCATGAAATGGATCGCAT 0.358 Melanoma(49;821 1200 7288 13647 42351) NA 4 78 0 0 0.009096 0 0 FSCB 84075 broad.mit.edu 37 14 44976080 44976080 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:44976080G>C uc001wvn.2 - 1 420 c.111C>G c.(109-111)AGC>AGG p.S37R NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 37 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AGCTGCCTTTGCTTCCAGAAG 0.413 NA 34 128 0 0 0.012213 0 0 L2HGDH 79944 broad.mit.edu 37 14 50734574 50734574 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:50734574C>A uc001wxu.2 - 8 1040 c.961G>T c.(961-963)GGC>TGC p.G321C L2HGDH_uc010tqn.1_Missense_Mutation_p.G321C|L2HGDH_uc010tqo.1_Missense_Mutation_p.G321C NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase precursor 321 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity ovary(2) 2 all_epithelial(31;0.000599)|Breast(41;0.0102) CAAATACTGCCATCCATCCTT 0.413 NA 24 68 7.16444e-05 8.25271e-05 0.003954 1 0 NIN 51199 broad.mit.edu 37 14 51239122 51239122 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:51239122C>A uc001wym.2 - 9 1069 c.878G>T c.(877-879)CGG>CTG p.R293L NIN_uc001wyi.2_Missense_Mutation_p.R293L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R293L|NIN_uc010tqp.1_Missense_Mutation_p.R299L|NIN_uc001wyo.2_Missense_Mutation_p.R293L|NIN_uc001wyp.1_Missense_Mutation_p.R255L NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 293 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GGAGAAGACCCGAAAGCCAAT 0.522 NA T PDGFRB MPD 12 47 6.40141e-05 7.40054e-05 0.010729 1 0 NID2 22795 broad.mit.edu 37 14 52481130 52481130 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:52481130G>T uc001wzo.2 - 16 3529 c.3295C>A c.(3295-3297)CCA>ACA p.P1099T NID2_uc010tqs.1_Missense_Mutation_p.P1051T|NID2_uc010tqt.1_Missense_Mutation_p.P1099T|NID2_uc001wzp.2_Missense_Mutation_p.P1099T NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1099 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GTCACATCTGGCCGGGGCGTG 0.622 NA OREG0022678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 45 2.23348e-06 2.77877e-06 0.004007 1 0 OTX2 5015 broad.mit.edu 37 14 57268600 57268600 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:57268600C>A uc001xcp.2 - 3 894 c.723G>T c.(721-723)CAG>CAT p.Q241H OTX2_uc010aou.2_Missense_Mutation_p.Q241H|OTX2_uc001xcq.2_Missense_Mutation_p.Q249H NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 241 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) CTCCATATCCCTGGGTGGAAA 0.512 NA 29 68 1.16021e-09 1.67967e-09 0.007291 1 0 KCNH5 27133 broad.mit.edu 37 14 63417043 63417043 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:63417043C>A uc001xfx.2 - 7 1228 c.1177G>T c.(1177-1179)GCT>TCT p.A393S KCNH5_uc001xfy.2_Missense_Mutation_p.A393S|KCNH5_uc001xfz.1_Missense_Mutation_p.A335S|KCNH5_uc001xga.2_Missense_Mutation_p.A335S NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 393 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ATGCTCAAAGCCAGCTGGTAG 0.498 NA 15 68 1.52009e-12 2.42681e-12 0.003163 1 0 CCDC88C 440193 broad.mit.edu 37 14 91749723 91749723 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:91749723G>A uc010aty.2 - 26 4679 c.4580C>T c.(4579-4581)ACA>ATA p.T1527I CCDC88C_uc001xzj.2_Missense_Mutation_p.T51I|CCDC88C_uc001xzi.2_5'UTR NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1527 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) GGAAGGGGCTGTAGTGGTGGC 0.647 NA 5 31 0 0 0.000602 0 0 C14orf49 161176 broad.mit.edu 37 14 95899631 95899631 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:95899631T>C uc001yei.3 - 15 2669 c.2654A>G c.(2653-2655)TAC>TGC p.Y885C C14orf49_uc010avi.2_Missense_Mutation_p.Y880C NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 885 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTTGGACTTGTACAGCATCCA 0.572 NA 24 105 0 0 0.003954 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102452915 102452915 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:102452915G>T uc001yks.2 + 8 2517 c.2353G>T c.(2353-2355)GTT>TTT p.V785F NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 785 Interaction with DYNC1LI2 (By similarity).|Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GATCGAGAGCGTTCGTACCTA 0.532 NA 19 107 1.33834e-09 1.93315e-09 0.007413 1 0 AHNAK2 113146 broad.mit.edu 37 14 105413664 105413664 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:105413664C>G uc010axc.1 - 7 8244 c.8124G>C c.(8122-8124)CAG>CAC p.Q2708H AHNAK2_uc001ypx.2_Missense_Mutation_p.Q2608H NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2708 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTGGCCAGCCTGGACCTCCA 0.612 NA 39 244 0 0 0.005524 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417186 105417186 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:105417186C>T uc010axc.1 - 7 4722 c.4602G>A c.(4600-4602)GGG>GGA p.G1534G AHNAK2_uc001ypx.2_Silent_p.G1434G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1534 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTTGAGGTCCCCCTGCATGG 0.652 NA 12 267 0 0 0.01441 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417188 105417188 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:105417188C>T uc010axc.1 - 7 4720 c.4600G>A c.(4600-4602)GGG>AGG p.G1534R AHNAK2_uc001ypx.2_Missense_Mutation_p.G1434R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1534 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGAGGTCCCCCTGCATGGAG 0.652 NA 11 273 0 0 0.01441 0 0 OR4M2 390538 broad.mit.edu 37 15 22368804 22368804 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:22368804A>T uc010tzu.1 + 1 229 c.229A>T c.(229-231)ACA>TCA p.T77S LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCTTCCATTACAGCCCCTGA 0.433 NA 47 540 0 0 0.011902 0 0 OR4M2 390538 broad.mit.edu 37 15 22368830 22368830 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:22368830C>G uc010tzu.1 + 1 255 c.255C>G c.(253-255)TTC>TTG p.F85L LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCATAGACTTCTTTGTGGAGA 0.443 NA 17 522 0 0 0.004007 0 0 Unknown 0 broad.mit.edu 37 15 22440455 22440455 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:22440455G>A uc001yug.2 - 1 411 c.392C>T c.(391-393)CCT>CTT p.P131L full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). NA TTCTTCCTCAGGAGTCAGCTT 0.463 NA 4 26 0 0 0.009096 0 0 RYR3 6263 broad.mit.edu 37 15 34077909 34077909 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:34077909C>A uc001zhi.2 + 66 9385 c.9315C>A c.(9313-9315)CCC>CCA p.P3105P RYR3_uc010bar.2_Silent_p.P3105P NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3105 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGACATCCCCCAGCTGGAAG 0.527 NA 4 62 0.00909568 0.00960854 0.009096 1 0 PAK6 56924 broad.mit.edu 37 15 40564615 40564615 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:40564615G>A uc010bbl.2 + 6 1489 c.1049G>A c.(1048-1050)GGA>GAA p.G350E PAK6_uc010bbm.2_Missense_Mutation_p.G350E|PAK6_uc001zky.3_Missense_Mutation_p.G350E|PAK6_uc010bbn.2_Missense_Mutation_p.G350E|PAK6_uc001zlb.2_Missense_Mutation_p.G350E NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 350 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) TCCCCAGCGGGATCCCCCCGC 0.677 NA 11 49 0 0 0.008291 0 0 NDUFAF1 51103 broad.mit.edu 37 15 41687110 41687110 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:41687110T>C uc001znx.2 - 3 1088 c.706A>G c.(706-708)ATG>GTG p.M236V NDUFAF1_uc010bcf.2_RNA NM_016013 NP_057097 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 236 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding ovary(1) 1 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) TAACTATACATCTGATTCGTC 0.448 NA 12 51 0 0 0.010729 0 0 SORD 6652 broad.mit.edu 37 15 45365705 45365705 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:45365705G>T uc001zul.3 + 9 1192 c.1051G>T c.(1051-1053)GAC>TAC p.D351Y SORD_uc001zum.3_3'UTR|SORD_uc010bdz.2_Missense_Mutation_p.D272Y NM_003104 NP_003095 Q00796 DHSO_HUMAN sorbitol dehydrogenase 351 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding 0 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) GCTCAAGTGTGACCCCAGTGA 0.507 NA 13 65 9.22233e-05 0.000105469 0.004656 1 0 SEMA6D 80031 broad.mit.edu 37 15 48052056 48052056 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:48052056G>C uc010bek.2 + 2 421 c.61G>C c.(61-63)GTC>CTC p.V21L SEMA6D_uc001zvw.2_Missense_Mutation_p.V21L|SEMA6D_uc001zvx.1_Missense_Mutation_p.V21L|SEMA6D_uc001zvy.2_Missense_Mutation_p.V21L|SEMA6D_uc001zvz.2_Missense_Mutation_p.V21L|SEMA6D_uc001zwa.2_Missense_Mutation_p.V21L|SEMA6D_uc001zwb.2_Missense_Mutation_p.V21L|SEMA6D_uc001zwc.2_Missense_Mutation_p.V21L NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 21 Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GTTGAGGGCAGTCAGCTTTCC 0.483 NA 17 83 0 0 0.008871 0 0 C15orf33 196951 broad.mit.edu 37 15 49800432 49800432 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:49800432C>G uc001zxl.2 - 11 1282 c.988G>C c.(988-990)GAC>CAC p.D330H C15orf33_uc001zxm.2_Missense_Mutation_p.D296H NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 330 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TCTTGACTGTCTGCAATTCTT 0.338 NA 5 45 0 0 0.000602 0 0 ISLR2 57611 broad.mit.edu 37 15 74425301 74425301 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:74425301G>T uc002axd.2 + 4 975 c.206G>T c.(205-207)GGG>GTG p.G69V ISLR2_uc002axe.2_Missense_Mutation_p.G69V|ISLR2_uc010bjg.2_Missense_Mutation_p.G69V|ISLR2_uc010bjf.2_Missense_Mutation_p.G69V NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 69 LRR 1.|Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CTGCGGCGCGGGGCCTTCGCC 0.637 NA 18 61 1.67942e-08 2.35118e-08 0.006122 1 0 CIB2 10518 broad.mit.edu 37 15 78401674 78401674 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:78401674C>T uc002bdb.1 - 4 570 c.249G>A c.(247-249)GAG>GAA p.E83E CIB2_uc002bdc.1_Silent_p.E40E|CIB2_uc010ums.1_Silent_p.E83E NM_006383 NP_006374 O75838 CIB2_HUMAN DNA-dependent protein kinase catalytic 83 EF-hand 1. calcium ion binding 0 TGAGGTTCCCCTCACCATCCT 0.512 NA 4 69 0 0 0.009096 0 0 ZNF592 9640 broad.mit.edu 37 15 85345586 85345586 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:85345586C>G uc002bld.2 + 11 4102 c.3766C>G c.(3766-3768)CAG>GAG p.Q1256E ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 1256 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACAGGCCTCTCAGGACCAGGA 0.622 NA 3 38 0 0 0.004672 0 0 ACAN 176 broad.mit.edu 37 15 89401442 89401442 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:89401442G>A uc010upo.1 + 12 6000 c.5626G>A c.(5626-5628)GGA>AGA p.G1876R ACAN_uc010upp.1_Missense_Mutation_p.G1876R|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1876 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGATGTCAGTGGACAGTTTTC 0.507 NA 10 41 0 0 0.006214 0 0 FAM169B 283777 broad.mit.edu 37 15 98995202 98995202 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr15:98995202C>A uc002buk.1 - 5 472 c.222G>T c.(220-222)CTG>CTT p.L74L NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 74 0 AGACAGGCAGCAGGTAGCATG 0.587 NA 8 37 2.17888e-05 2.55607e-05 0.006214 1 0 TPSD1 23430 broad.mit.edu 37 16 1308196 1308196 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:1308196G>T uc002clb.1 + 4 666 c.657G>T c.(655-657)GCG>GCT p.A219A TPSD1_uc010brm.1_Silent_p.A148A NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 219 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TGCTGTGTGCGGGGAGCGAAA 0.622 NA 12 29 5.50884e-06 6.65869e-06 0.013537 1 0 TPSD1 23430 broad.mit.edu 37 16 1308350 1308350 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:1308350C>A uc002clb.1 + 5 711 c.702C>A c.(700-702)CCC>CCA p.P234P NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 234 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) CTGGAGGGCCCCTGGTCTGCA 0.667 NA 17 68 3.52763e-06 4.34642e-06 0.00499 1 0 PDILT 204474 broad.mit.edu 37 16 20370659 20370659 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:20370659T>C uc002dhc.1 - 12 1960 c.1737A>G c.(1735-1737)AAA>AAG p.K579K NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 579 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CTTCCTTGACTTTTGGTTTCT 0.443 NA 36 140 0 0 0.003755 0 0 SULT1A1 6817 broad.mit.edu 37 16 28620185 28620185 + Translation_Start_Site SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:28620185G>A uc002dqi.2 - 1 465 c.-8C>T c.(-10--6)GACGC>GATGC uc010vct.1_Intron|SULT1A1_uc002dqj.2_Intron|SULT1A1_uc002dqk.2_Translation_Start_Site|SULT1A1_uc002dql.2_Intron|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Intron|SULT1A1_uc002dqo.2_Intron|SULT1A1_uc002dqp.2_Intron NM_177534 NP_803878 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 ATGTTCCTGCGTCAGGGGCCA 0.483 NA 6 140 0 0 0.001984 0 0 BCKDK 10295 broad.mit.edu 37 16 31121042 31121042 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:31121042C>A uc002eaw.3 + 4 629 c.313C>A c.(313-315)CGC>AGC p.R105S BCKDK_uc002eav.3_Missense_Mutation_p.R105S|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.R105S NM_005881 NP_005872 O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 105 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity stomach(1)|breast(1) 2 GATTGCTCACCGCATCAAGGG 0.567 NA 8 70 2.17888e-05 2.55607e-05 0.006214 1 0 ABCC11 85320 broad.mit.edu 37 16 48212511 48212511 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:48212511C>A uc002eff.1 - 23 3695 c.3345G>T c.(3343-3345)ATG>ATT p.M1115I ABCC11_uc002efg.1_Missense_Mutation_p.M1115I|ABCC11_uc002efh.1_Missense_Mutation_p.M1115I|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 1115 Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ACCCCACCTTCATGTACTGCA 0.587 NA Cerumen_Type 17 88 6.94344e-10 1.01212e-09 0.006122 1 0 SALL1 6299 broad.mit.edu 37 16 51175648 51175648 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:51175648C>T uc010vgs.1 - 2 516 c.485G>A c.(484-486)GGC>GAC p.G162D SALL1_uc010vgr.1_Missense_Mutation_p.G65D|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 162 Poly-Gly. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGAgctgccgccgccgccgct 0.458 GBM(103;1352 1446 1855 4775 8890) NA 21 44 0 0 0.008871 0 0 RLTPR 146206 broad.mit.edu 37 16 67679982 67679982 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:67679982A>T uc002etn.2 + 4 368 c.248A>T c.(247-249)CAG>CTG p.Q83L RLTPR_uc010cel.1_Missense_Mutation_p.Q83L|RLTPR_uc010vjr.1_Missense_Mutation_p.Q83L NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 83 LRR 1. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) ACACCCCCTCAGGTGAGACAC 0.622 NA 23 104 0 0 0.014323 0 0 SF3B3 23450 broad.mit.edu 37 16 70590926 70590926 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:70590926G>T uc002ezf.2 + 15 2215 c.2004G>T c.(2002-2004)GGG>GGT p.G668G NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 668 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) TGAATATTGGGCTACAGGTAA 0.507 NA 10 37 1.76689e-08 2.45209e-08 0.006214 1 0 TAT 6898 broad.mit.edu 37 16 71604215 71604215 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:71604215C>A uc002fap.2 - 9 1097 c.998G>T c.(997-999)CGC>CTC p.R333L NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 333 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TCCCGGGGTGCGACATAGGAT 0.552 Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594) NA 11 57 1.58986e-06 2.01341e-06 0.008291 1 0 TP53 7157 broad.mit.edu 37 17 7578290 7578290 + Splice_Site SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:7578290C>T uc002gim.2 - 6 754 c.560_splice c.e6-1 p.G187_splice TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Intron NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(24)|p.0?(7)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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) GGGGCCAGACCTAAGAGCAAT 0.552 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 40 0 0 0.006214 0 0 MYH13 8735 broad.mit.edu 37 17 10247257 10247257 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:10247257G>C uc002gmk.1 - 16 1844 c.1754C>G c.(1753-1755)GCC>GGC p.A585G MYH13_uc010vvf.1_Missense_Mutation_p.A260G NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 585 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CACGGTGCCGGCATAGTGCAC 0.547 NA 22 78 0 0 0.00333 0 0 MYH8 4626 broad.mit.edu 37 17 10295913 10295913 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:10295913C>A uc002gmm.2 - 38 5609 c.5514G>T c.(5512-5514)GAG>GAT p.E1838D uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1838 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CTTTAACAGCCTCTGCATTAC 0.438 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 17 106 8.10497e-08 1.09615e-07 0.010504 1 0 CYTSB 92521 broad.mit.edu 37 17 20108350 20108350 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:20108350G>T uc002gwq.2 + 4 1133 c.988G>T c.(988-990)GAC>TAC p.D330Y CYTSB_uc010cqx.2_Missense_Mutation_p.D330Y|CYTSB_uc002gwr.2_Missense_Mutation_p.D330Y|CYTSB_uc002gws.2_Missense_Mutation_p.D330Y|CYTSB_uc002gwv.2_Missense_Mutation_p.D249Y|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.D106Y|CYTSB_uc002gwt.2_Missense_Mutation_p.D249Y|CYTSB_uc002gwu.2_Missense_Mutation_p.D249Y NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 330 Ser-rich. D -> N (in Ref. 5; AAH50058). nucleus 0 AGATGCTTCCGACTTTGAGCA 0.458 NA 18 185 2.39187e-15 4.09576e-15 0.008871 1 0 C17orf75 64149 broad.mit.edu 37 17 30665284 30665284 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:30665284C>A uc002hhg.2 - 4 465 c.434G>T c.(433-435)CGT>CTT p.R145L NM_022344 NP_071739 Q9HAS0 NJMU_HUMAN hypothetical protein LOC64149 145 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TGAAGGGTTACGTTCAGAGTC 0.373 NA 27 137 8.24728e-16 1.43148e-15 0.004656 1 0 KRT12 3859 broad.mit.edu 37 17 39023359 39023359 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:39023359A>G uc002hvk.2 - 1 104 c.80T>C c.(79-81)ATA>ACA p.I27T NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 27 Head. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) GGGTCTGCCTATCACACTCTG 0.602 NA 8 73 0 0 0.008291 0 0 DNAJC7 7266 broad.mit.edu 37 17 40134324 40134324 + Nonsense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:40134324C>A uc002hyo.2 - 11 1417 c.1180G>T c.(1180-1182)GAG>TAG p.E394* DNAJC7_uc010cxu.2_Nonsense_Mutation_p.E338*|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Nonsense_Mutation_p.E338*|DNAJC7_uc010wgc.1_Nonsense_Mutation_p.E252*|DNAJC7_uc002hyp.2_Nonsense_Mutation_p.E338* NM_003315 NP_003306 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 394 J. chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding ovary(1) 1 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) ATCTCGTCCTCAGAGGCATTC 0.498 Colon(63;618 1117 8600 10857 19751) NA 10 73 0.000442599 0.000496366 0.006214 1 0 NPEPPS 9520 broad.mit.edu 37 17 45668224 45668224 + Missense_Mutation SNP T T G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:45668224T>G uc002ilr.3 + 10 1460 c.1237T>G c.(1237-1239)TTA>GTA p.L413V NPEPPS_uc010wkt.1_Missense_Mutation_p.L409V|NPEPPS_uc010wku.1_Missense_Mutation_p.L377V|NPEPPS_uc010wkv.1_5'UTR NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 413 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 GCTTGACGCCTTAGATAACAG 0.408 NA 12 161 0 0 0.004007 0 0 CACNA1G 8913 broad.mit.edu 37 17 48692748 48692748 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:48692748G>T uc002irk.1 + 27 5158 c.4786G>T c.(4786-4788)GAC>TAC p.D1596Y CACNA1G_uc002irj.1_Missense_Mutation_p.D1562Y|CACNA1G_uc002irl.1_Missense_Mutation_p.D1573Y|CACNA1G_uc002irm.1_Missense_Mutation_p.D1562Y|CACNA1G_uc002irn.1_Missense_Mutation_p.D1555Y|CACNA1G_uc002iro.1_Missense_Mutation_p.D1562Y|CACNA1G_uc002irp.1_Missense_Mutation_p.D1596Y|CACNA1G_uc002irq.1_Missense_Mutation_p.D1573Y|CACNA1G_uc002irr.1_Missense_Mutation_p.D1596Y|CACNA1G_uc002irs.1_Missense_Mutation_p.D1585Y|CACNA1G_uc002irt.1_Missense_Mutation_p.D1578Y|CACNA1G_uc002irv.1_Missense_Mutation_p.D1585Y|CACNA1G_uc002irw.1_Missense_Mutation_p.D1573Y|CACNA1G_uc002iru.1_Missense_Mutation_p.D1562Y|CACNA1G_uc002irx.1_Missense_Mutation_p.D1509Y|CACNA1G_uc002iry.1_Missense_Mutation_p.D1498Y|CACNA1G_uc002irz.1_Missense_Mutation_p.D1509Y|CACNA1G_uc002isa.1_Missense_Mutation_p.D1475Y|CACNA1G_uc002isb.1_Missense_Mutation_p.D1516Y|CACNA1G_uc002isc.1_Missense_Mutation_p.D1498Y|CACNA1G_uc002isd.1_Missense_Mutation_p.D1491Y|CACNA1G_uc002ise.1_Missense_Mutation_p.D1464Y|CACNA1G_uc002isf.1_Missense_Mutation_p.D1491Y|CACNA1G_uc002isg.1_Missense_Mutation_p.D1457Y|CACNA1G_uc002ish.1_Missense_Mutation_p.D1464Y|CACNA1G_uc002isi.1_Missense_Mutation_p.D1452Y NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1596 IV.|Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TTACTACTCCGACTACTCCCG 0.632 NA 9 51 0.000274275 0.000309227 0.004482 1 0 MPO 4353 broad.mit.edu 37 17 56349109 56349109 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:56349109C>A uc002ivu.1 - 11 2114 c.1937G>T c.(1936-1938)GGC>GTC p.G646V NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 646 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) CTCGGACACGCCGCCCATCCA 0.612 NA 15 53 1.99824e-07 2.65183e-07 0.00499 1 0 TEX14 56155 broad.mit.edu 37 17 56694958 56694958 + Nonsense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:56694958G>A uc010dcz.1 - 6 695 c.577C>T c.(577-579)CGA>TGA p.R193* TEX14_uc002iwr.1_Nonsense_Mutation_p.R193*|TEX14_uc002iws.1_Nonsense_Mutation_p.R193*|TEX14_uc010dda.1_Intron NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 193 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTAAGCAGTCGGTTAGGAGAG 0.393 NA 5 77 0 0 0.001984 0 0 ABCA8 10351 broad.mit.edu 37 17 66924151 66924151 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:66924151G>T uc002jhp.2 - 9 1358 c.1179C>A c.(1177-1179)GAC>GAA p.D393E ABCA8_uc002jhq.2_Missense_Mutation_p.D393E|ABCA8_uc010wqq.1_Missense_Mutation_p.D393E|ABCA8_uc010wqr.1_Missense_Mutation_p.D332E|ABCA8_uc002jhr.2_Missense_Mutation_p.D393E NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 393 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GATTTGAGCCGTCCGATGGAT 0.338 NA 8 32 5.18039e-06 6.34598e-06 0.00308 1 0 KIF19 124602 broad.mit.edu 37 17 72345400 72345400 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:72345400C>A uc002jkm.3 + 10 1263 c.1125C>A c.(1123-1125)ATC>ATA p.I375I KIF19_uc002jkj.2_Silent_p.I375I|KIF19_uc002jkk.2_Silent_p.I333I|KIF19_uc002jkl.2_Silent_p.I333I NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 375 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GGGGCGAGATCCAGCGACTCA 0.637 NA 10 51 1.58986e-06 2.01341e-06 0.008291 1 0 GAA 2548 broad.mit.edu 37 17 78082517 78082517 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:78082517G>T uc002jxo.2 + 9 1398 c.1216G>T c.(1216-1218)GAC>TAC p.D406Y GAA_uc002jxp.2_Missense_Mutation_p.D406Y|GAA_uc002jxq.2_Missense_Mutation_p.D406Y NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 406 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GAACGACCTGGACTACATGGA 0.667 NA 9 27 3.09899e-07 4.07021e-07 0.004482 1 0 SMCHD1 23347 broad.mit.edu 37 18 2762143 2762143 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:2762143T>C uc002klm.3 + 36 4664 c.4475T>C c.(4474-4476)GTA>GCA p.V1492A SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1492 chromosome organization ATP binding 0 GTGAAGTTAGTACCTAAAATT 0.368 NA 17 61 0 0 0.008871 0 0 LRRC30 339291 broad.mit.edu 37 18 7231664 7231664 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:7231664G>T uc010wzk.1 + 1 528 c.528G>T c.(526-528)GCG>GCT p.A176A NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 176 LRR 5. ovary(1)|liver(1) 2 ACTTCTTCGCGCACATCCCCA 0.552 NA 24 118 4.26978e-12 6.71567e-12 0.00333 1 0 PTPRM 5797 broad.mit.edu 37 18 7888243 7888243 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:7888243G>A uc002knn.3 + 3 839 c.336G>A c.(334-336)GGG>GGA p.G112G PTPRM_uc010dkv.2_Silent_p.G112G NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 112 MAM.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CTCCTCCGGGGTTACTCAATG 0.483 NA 21 83 0 0 0.008871 0 0 FAM38B 63895 broad.mit.edu 37 18 10696216 10696216 + Missense_Mutation SNP A A C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:10696216A>C uc002kor.3 - 5 718 c.578T>G c.(577-579)ATG>AGG p.M193R FAM38B_uc002koq.2_Missense_Mutation_p.M91R NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2236 Helical; (Potential). integral to membrane ion channel activity ovary(1) 1 AATGAGGACCATCACCAAAAA 0.522 NA 11 57 0 0 0.010729 0 0 RNMT 8731 broad.mit.edu 37 18 13731900 13731900 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:13731900A>T uc002ksk.1 + 2 451 c.384A>T c.(382-384)AAA>AAT p.K128N RNMT_uc002ksl.1_Missense_Mutation_p.K128N|RNMT_uc002ksm.1_Missense_Mutation_p.K128N|RNMT_uc010dlk.2_Missense_Mutation_p.K128N|RNMT_uc010xae.1_Intron NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 128 Nuclear localization signal. mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 ATAAGAGAAAAATAGCACTTG 0.348 GBM(29;474 594 19092 36647 41529) NA 13 77 0 0 0.001855 0 0 CABLES1 91768 broad.mit.edu 37 18 20832975 20832975 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:20832975G>A uc002kuc.2 + 8 1498 c.1498G>A c.(1498-1500)GAG>AAG p.E500K C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Missense_Mutation_p.E3K|CABLES1_uc002kud.2_Missense_Mutation_p.E235K NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 500 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1) 1 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) GGACATGAACGAGACCTTCAA 0.488 NA 9 57 0 0 0.010729 0 0 C18orf8 29919 broad.mit.edu 37 18 21110037 21110037 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:21110037C>G uc010xax.1 + 18 1661 c.1540C>G c.(1540-1542)CTC>GTC p.L514V C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.L138V|NPC1_uc010dlu.1_Intron NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 514 Mic1. ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) CCAGCACAACCTCTTTTATAT 0.398 NA 67 340 0 0 0.01441 0 0 DSG3 1830 broad.mit.edu 37 18 29056010 29056010 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:29056010T>C uc002kws.2 + 16 2896 c.2787T>C c.(2785-2787)GGT>GGC p.G929G DSG3_uc002kwt.2_Silent_p.G211G NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 929 Desmoglein repeat 1.|Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGCAGCATGGTAACTATTTAG 0.498 NA 21 97 0 0 0.008871 0 0 FAM59A 64762 broad.mit.edu 37 18 29867127 29867127 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:29867127C>A uc002kxl.2 - 4 1489 c.1433G>T c.(1432-1434)TGT>TTT p.C478F FAM59A_uc002kxk.1_Missense_Mutation_p.C478F NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 478 ovary(1)|skin(1) 2 AAACTGATCACATCTGTTCTT 0.537 NA 27 106 1.2476e-16 2.18931e-16 0.00632 1 0 ASXL3 80816 broad.mit.edu 37 18 31319709 31319709 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:31319709C>G uc010dmg.1 + 11 2396 c.2341C>G c.(2341-2343)CCG>GCG p.P781A ASXL3_uc002kxq.2_Missense_Mutation_p.P488A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 781 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCCACTCTCCCCGCAGAAAGA 0.463 NA 17 71 0 0 0.004007 0 0 NOL4 8715 broad.mit.edu 37 18 31538265 31538265 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:31538265C>G uc010dmi.2 - 7 1403 c.1174G>C c.(1174-1176)GAC>CAC p.D392H NOL4_uc010xbs.1_Missense_Mutation_p.D107H|NOL4_uc002kxr.3_Missense_Mutation_p.D228H|NOL4_uc010xbt.1_Missense_Mutation_p.D318H|NOL4_uc010dmh.2_Missense_Mutation_p.D318H|NOL4_uc010xbu.1_Missense_Mutation_p.D392H|NOL4_uc002kxt.3_Missense_Mutation_p.D392H|NOL4_uc010xbv.1_Missense_Mutation_p.D141H|NOL4_uc010xbw.1_Missense_Mutation_p.D278H NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 392 nucleolus RNA binding ovary(3) 3 TCCGAATCGTCATGGTCCTCG 0.488 NA 31 172 0 0 0.012213 0 0 DCC 1630 broad.mit.edu 37 18 50450202 50450202 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:50450202C>A uc002lfe.1 + 4 1410 c.823C>A c.(823-825)CGA>AGA p.R275R DCC_uc010xdr.1_Silent_p.R123R NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 275 Extracellular (Potential).|Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TACCTGGTTACGAGGCGAGGA 0.373 NA 9 42 4.68919e-08 6.39617e-08 0.008291 1 0 ST8SIA3 51046 broad.mit.edu 37 18 55024500 55024500 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:55024500A>T uc002lgn.2 + 3 1016 c.659A>T c.(658-660)AAC>ATC p.N220I NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 220 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) AAATATTACAACAATCTCTTG 0.423 NA 12 55 0 0 0.010729 0 0 CDH19 28513 broad.mit.edu 37 18 64172450 64172450 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:64172450G>T uc002lkc.1 - 12 2056 c.1918C>A c.(1918-1920)CAA>AAA p.Q640K CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 640 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TCATCATATTGGAATATATTC 0.388 NA 22 187 1.55795e-14 2.61161e-14 0.012319 1 0 RTTN 25914 broad.mit.edu 37 18 67812964 67812965 + Missense_Mutation DNP CC CC AA TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:67812964_67812965CC>AA uc002lkp.2 - 18 2432_2433 c.2364_2365GG>TT c.(2362-2367)GGGGCT>GGTTCT p.A789S RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 789 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TTTGTATCAGCCCCTTCTTCAC 0.421 NA 9 92 0 0 0.004672 0 0 ZADH2 284273 broad.mit.edu 37 18 72913562 72913562 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:72913562C>A uc002llx.2 - 2 1211 c.943G>T c.(943-945)GCC>TCC p.A315S ZADH2_uc010dqv.2_Missense_Mutation_p.A192S NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 315 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TGGCTCATGGCTGCTTGATAC 0.522 NA 10 67 1.76689e-08 2.45209e-08 0.006214 1 0 AZU1 566 broad.mit.edu 37 19 831859 831859 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:831859G>A uc002lpz.1 + 5 754 c.738G>A c.(736-738)CCG>CCA p.P246P NM_001700 NP_001691 P20160 CAP7_HUMAN azurocidin 1 preproprotein 246 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding pancreas(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCAACAACCCGGGACCGGGGC 0.473 NA 12 77 0 0 0.003163 0 0 GTF2F1 2962 broad.mit.edu 37 19 6380303 6380303 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:6380303G>C uc002meq.2 - 13 1828 c.1543C>G c.(1543-1545)CTC>GTC p.L515V GTF2F1_uc010xjb.1_Missense_Mutation_p.L336V|GTF2F1_uc010xjc.1_Missense_Mutation_p.L430V NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 515 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 CACTCCTTGAGGGAGAAGTGC 0.552 NA 30 176 0 0 0.00632 0 0 EMR1 2015 broad.mit.edu 37 19 6897259 6897259 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:6897259C>A uc002mfw.2 + 4 376 c.338C>A c.(337-339)TCT>TAT p.S113Y EMR1_uc010dvc.2_Missense_Mutation_p.S113Y|EMR1_uc010dvb.2_Intron|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Missense_Mutation_p.S113Y NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 113 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) GATGGTTTCTCTTCTCCCACT 0.502 NA 11 38 1.33987e-11 2.0716e-11 0.008291 1 0 ZNF799 90576 broad.mit.edu 37 19 12501876 12501876 + Nonsense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:12501876C>A uc010dyt.2 - 4 1486 c.1336G>T c.(1336-1338)GAG>TAG p.E446* ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TAGGGTTTCTCTCCAGTATGA 0.383 NA 21 81 2.4624e-09 3.54074e-09 0.008871 1 0 CYP4F2 8529 broad.mit.edu 37 19 15990654 15990654 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:15990654C>A uc002nbs.1 - 10 1219 c.1169G>T c.(1168-1170)CGG>CTG p.R390L CYP4F2_uc010xot.1_Missense_Mutation_p.R241L NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 390 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GGGATGCAGCCGCAGGCTCTC 0.612 NA 28 137 1.74197e-06 2.20166e-06 0.00632 1 0 FCHO1 23149 broad.mit.edu 37 19 17892527 17892528 + Nonsense_Mutation DNP CC CC AA TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:17892527_17892528CC>AA uc010ebb.2 + 22 2024_2025 c.1835_1836CC>AA c.(1834-1836)TCC>TAA p.S612* FCHO1_uc002nhg.3_Nonsense_Mutation_p.S612*|FCHO1_uc002nhh.2_Nonsense_Mutation_p.S612*|FCHO1_uc010xpw.1_Nonsense_Mutation_p.S562*|FCHO1_uc002nhi.2_Nonsense_Mutation_p.S68*|FCHO1_uc002nhj.2_5'UTR NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 612 breast(1) 1 CCAGGAGTCTCCCGGGGTCCGA 0.629 NA 28 129 0 0 0.004672 0 0 ZNF91 7644 broad.mit.edu 37 19 23544912 23544912 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:23544912C>A uc002nre.2 - 4 982 c.869G>T c.(868-870)GGA>GTA p.G290V ZNF91_uc010xrj.1_Missense_Mutation_p.G258V NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 290 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGGTTTCTCTCCAGTGTGTAT 0.378 NA 8 71 0.000673444 0.000748663 0.008291 1 0 ZNF536 9745 broad.mit.edu 37 19 31040324 31040324 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:31040324G>T uc002nsu.1 + 4 3936 c.3798G>T c.(3796-3798)TCG>TCT p.S1266S ZNF536_uc010edd.1_Silent_p.S1266S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) ACATGCTGTCGGTCCTCAGGG 0.587 NA 6 31 0.00198382 0.00216386 0.001984 1 0 SHKBP1 92799 broad.mit.edu 37 19 41086559 41086559 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:41086559A>G uc002oob.2 + 8 699 c.650A>G c.(649-651)TAC>TGC p.Y217C SHKBP1_uc002ooc.2_Missense_Mutation_p.Y217C|SHKBP1_uc002ood.2_Missense_Mutation_p.Y217C|SHKBP1_uc010xvl.1_Missense_Mutation_p.Y140C|SHKBP1_uc002ooe.2_Missense_Mutation_p.Y54C|SHKBP1_uc002oof.2_Missense_Mutation_p.Y54C|SHKBP1_uc010xvm.1_Missense_Mutation_p.Y54C|SHKBP1_uc010xvn.1_Missense_Mutation_p.Y95C NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 217 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTAGTCTGCTACAGGTGCTTG 0.587 NA 8 62 0 0 0.00308 0 0 TMEM145 284339 broad.mit.edu 37 19 42821947 42821947 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:42821947G>C uc002otk.1 + 12 1039 c.987G>C c.(985-987)TGG>TGC p.W329C NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 329 Helical; (Potential). integral to membrane 0 Prostate(69;0.00682) CCTACGTGTGGTTCTGCTATG 0.557 NA 22 77 0 0 0.014323 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48517427 48517427 + Splice_Site SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:48517427G>T uc002pht.2 + 3 226 c.71_splice c.e3-1 p.G24_splice NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 precursor single fertilization extracellular region 0 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) CTGCCCTTCAGGGATGCATGA 0.413 NA 40 116 3.7052e-28 6.9418e-28 0.013114 1 0 CD33 945 broad.mit.edu 37 19 51742847 51742847 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:51742847G>T uc002pwa.2 + 7 1039 c.999G>T c.(997-999)GAG>GAT p.E333D CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E206D|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 333 Cytoplasmic (Potential). cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CTACTGTGGAGATGGATGAGG 0.507 NA 8 44 0.00307968 0.00334771 0.00308 1 0 ZNF578 147660 broad.mit.edu 37 19 53015320 53015320 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:53015320C>T uc002pzp.3 + 6 1930 c.1686C>T c.(1684-1686)AGC>AGT p.S562S NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GAATTCATAGCGGAGAGAAAC 0.388 NA 8 46 0 0 0.004482 0 0 NLRP12 91662 broad.mit.edu 37 19 54310871 54310871 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:54310871C>A uc002qch.3 - 4 2341 c.2121G>T c.(2119-2121)GCG>GCT p.A707A NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Silent_p.A707A|NLRP12_uc002qcj.3_Silent_p.A708A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A708A NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 707 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TGCACAGGGCCGCTGCCAGAT 0.567 NA 9 45 7.48243e-07 9.64839e-07 0.006214 1 0 LAIR2 3904 broad.mit.edu 37 19 55019118 55019118 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:55019118G>A uc002qgc.2 + 3 205 c.83G>A c.(82-84)AGA>AAA p.R28K LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Missense_Mutation_p.R28K|LAIR2_uc010erl.2_Missense_Mutation_p.R28K NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like 28 extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) GCCCTTCCCAGACCCTCCATC 0.468 NA 38 156 0 0 0.00623 0 0 LILRB1 10859 broad.mit.edu 37 19 55148268 55148268 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:55148268C>A uc002qgj.2 + 16 2232 c.1892C>A c.(1891-1893)CCA>CAA p.P631Q LILRB1_uc002qgl.2_Missense_Mutation_p.P632Q|LILRB1_uc002qgk.2_Missense_Mutation_p.P632Q|LILRB1_uc002qgm.2_Missense_Mutation_p.P633Q|LILRB1_uc010erq.2_Missense_Mutation_p.P615Q|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 631 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) GAGCCTCCTCCATCCCAGGAA 0.652 NA HNSCC(37;0.09) 18 65 8.10497e-08 1.09615e-07 0.010504 1 0 TNNI3 7137 broad.mit.edu 37 19 55665404 55665404 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:55665404G>A uc002qjg.3 - 7 543 c.543C>T c.(541-543)ACC>ACT p.T181T TNNI3_uc010yft.1_Silent_p.T173T NM_000363 NP_000354 P19429 TNNI3_HUMAN troponin I, cardiac 181 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding lung(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TCACCTTCTCGGTGTCCTCCT 0.622 NA 24 96 0 0 0.003954 0 0 TNNI3 7137 broad.mit.edu 37 19 55665459 55665459 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:55665459G>T uc002qjg.3 - 7 488 c.488C>A c.(487-489)GCT>GAT p.A163D TNNI3_uc010yft.1_Missense_Mutation_p.A155D NM_000363 NP_000354 P19429 TNNI3_HUMAN troponin I, cardiac 163 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding lung(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GGACTCCTTAGCCCGGGCCCC 0.607 NA 16 73 3.32936e-07 4.36379e-07 0.006122 1 0 NLRP4 147945 broad.mit.edu 37 19 56369531 56369531 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:56369531C>G uc002qmd.3 + 3 1194 c.772C>G c.(772-774)CAG>GAG p.Q258E NLRP4_uc002qmf.2_Missense_Mutation_p.Q183E|NLRP4_uc010etf.2_Missense_Mutation_p.Q89E NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 258 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACGGCCGGTGCAGGTGCTTCT 0.577 NA 19 103 0 0 0.007413 0 0 ZNF835 90485 broad.mit.edu 37 19 57175196 57175196 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:57175196G>A uc010ygo.1 - 2 1437 c.1437C>T c.(1435-1437)AAC>AAT p.N479N ZNF835_uc010ygn.1_Silent_p.N457N NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GGTAGGAGCGGTTGCTGAAGG 0.672 NA 37 110 0 0 0.003271 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58846460 58846460 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:58846460C>T uc002qsc.2 + 2 439 c.292C>T c.(292-294)CTG>TTG p.L98L ZSCAN22_uc010yhz.1_Silent_p.L98L NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 98 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGAGCAGTTCCTGGGTGCGCT 0.662 NA 7 49 0 0 0.001984 0 0 MYT1L 23040 broad.mit.edu 37 2 1983535 1983535 + Silent SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:1983535G>C uc002qxe.2 - 6 842 c.15C>G c.(13-15)ACC>ACG p.T5T MYT1L_uc002qxd.2_Silent_p.T5T|MYT1L_uc002qxf.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 5 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCTTCTCCTCGGTGTCCACCT 0.617 NA 9 25 0 0 0.006214 0 0 GRHL1 29841 broad.mit.edu 37 2 10126264 10126264 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:10126264G>T uc002raa.2 + 9 1294 c.1123G>T c.(1123-1125)GTG>TTG p.V375L GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.V186L|GRHL1_uc010yjb.1_Missense_Mutation_p.V224L NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 375 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TTTCATCTCTGTGAACTGCTT 0.423 NA 50 177 1.51926e-22 2.80512e-22 0.01441 1 0 KCNF1 3754 broad.mit.edu 37 2 11053359 11053359 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:11053359C>A uc002rax.2 + 1 1297 c.807C>A c.(805-807)AGC>AGA p.S269R NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 269 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) TCTACGTGAGCCTCACGCTCA 0.617 NA 10 42 0.000673444 0.000748663 0.008291 1 0 UBXN2A 165324 broad.mit.edu 37 2 24205881 24205881 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:24205881G>T uc010exy.2 + 6 871 c.403G>T c.(403-405)GGA>TGA p.G135* UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Nonsense_Mutation_p.G135*|UBXN2A_uc010ykj.1_Nonsense_Mutation_p.G135* NM_181713 NP_859064 P68543 UBX2A_HUMAN UBX domain containing 4 135 0 GCCCTTTTCAGGACAGGGTCA 0.368 NA 11 31 1.5842e-08 2.2326e-08 0.001855 1 0 GPR113 165082 broad.mit.edu 37 2 26569027 26569027 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:26569027C>T uc010eyk.1 - 1 659 c.76G>A c.(76-78)GGC>AGC p.G26S EPT1_uc010ykz.1_5'UTR|EPT1_uc010eyl.1_RNA|GPR113_uc002rhb.1_5'Flank|GPR113_uc002rhc.1_5'UTR|GPR113_uc002rhd.1_RNA NM_153835 NP_722577 Q8IZF5 GP113_HUMAN G-protein coupled receptor 113 isoform 3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTGCCCAGCCGGTGTGGTGC 0.677 NA 3 18 0 0 0.004672 0 0 PREB 10113 broad.mit.edu 37 2 27355541 27355541 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:27355541C>G uc002rix.1 - 5 935 c.682G>C c.(682-684)GTG>CTG p.V228L PREB_uc002riy.1_Missense_Mutation_p.V156L|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.V228L NM_013388 NP_037520 Q9HCU5 PREB_HUMAN prolactin regulatory element binding protein 228 Cytoplasmic (Potential).|WD 2. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTGTGTCACCAGCTGATCC 0.532 NA 12 71 0 0 0.013537 0 0 MAP4K3 8491 broad.mit.edu 37 2 39494378 39494378 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:39494378C>A uc002rro.2 - 27 2075 c.1984G>T c.(1984-1986)GTA>TTA p.V662L MAP4K3_uc002rrp.2_Missense_Mutation_p.V641L|MAP4K3_uc010yns.1_Missense_Mutation_p.V215L NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 662 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TTTGCTGATACAGAAAATTTC 0.249 NA 10 57 0.00829132 0.00883206 0.008291 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656493 40656493 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:40656493G>T uc002rrx.2 - 1 952 c.928C>A c.(928-930)CTG>ATG p.L310M SLC8A1_uc002rry.2_Missense_Mutation_p.L310M|SLC8A1_uc002rrz.2_Missense_Mutation_p.L310M|SLC8A1_uc002rsa.2_Missense_Mutation_p.L310M|SLC8A1_uc002rsd.3_Missense_Mutation_p.L310M|SLC8A1_uc002rsb.1_Missense_Mutation_p.L310M|SLC8A1_uc010fan.1_Missense_Mutation_p.L310M|SLC8A1_uc002rsc.1_Missense_Mutation_p.L310M NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 310 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCCACCTCCAGAACCAGAGCA 0.423 NA 28 160 2.08973e-25 3.89227e-25 0.005443 1 0 SLC3A1 6519 broad.mit.edu 37 2 44508605 44508605 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:44508605A>G uc002ruc.3 + 3 768 c.690A>G c.(688-690)ACA>ACG p.T230T SLC3A1_uc002rty.2_Silent_p.T230T|SLC3A1_uc002rtz.2_Silent_p.T230T|SLC3A1_uc002rua.2_Silent_p.T230T|SLC3A1_uc002rub.2_Silent_p.T230T NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 230 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) GGACACGGACAGGAAAATATA 0.363 NA 10 22 0 0 0.008291 0 0 FSHR 2492 broad.mit.edu 37 2 49210102 49210102 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:49210102A>G uc002rww.2 - 8 691 c.617T>C c.(616-618)TTA>TCA p.L206S FSHR_uc002rwx.2_Missense_Mutation_p.L206S|FSHR_uc010fbn.2_Missense_Mutation_p.L180S NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 206 LRR 7.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CAATTCTTCTAAATTATTATT 0.408 NA Gonadal_Dysgenesis_46_XX 10 27 0 0 0.006214 0 0 NRXN1 9378 broad.mit.edu 37 2 50723093 50723093 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:50723093G>A uc010fbq.2 - 15 4617 c.3140C>T c.(3139-3141)ACA>ATA p.T1047I NRXN1_uc002rxb.3_Missense_Mutation_p.T679I|NRXN1_uc002rxe.3_Missense_Mutation_p.T1007I|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGTGATTTTTGTGTCAATCTT 0.473 NA 7 36 0 0 0.001984 0 0 COMMD1 150684 broad.mit.edu 37 2 62228008 62228008 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:62228008G>C uc002sbp.2 + 2 364 c.353G>C c.(352-354)GGG>GCG p.G118A COMMD1_uc002sbq.1_RNA NM_152516 NP_689729 Q8N668 COMD1_HUMAN MURR1 118 COMM. copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus copper ion binding|protein homodimerization activity ovary(1) 1 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) TGGAATAGCGGGCTTCGGGGC 0.502 NA 16 49 0 0 0.004007 0 0 OTX1 5013 broad.mit.edu 37 2 63283419 63283419 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:63283419G>A uc002scd.2 + 5 1281 c.1033G>A c.(1033-1035)GAC>AAC p.D345N OTX1_uc010ypt.1_Missense_Mutation_p.D279N NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 345 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) GGACTATAAGGACCAAGCCTC 0.577 NA 8 61 0 0 0.004482 0 0 SPRED2 200734 broad.mit.edu 37 2 65540999 65540999 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:65540999C>T uc002sdr.3 - 6 1428 c.893G>A c.(892-894)CGG>CAG p.R298Q SPRED2_uc010fcw.2_Missense_Mutation_p.R295Q NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 298 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 CTTCCGCCGCCGCGACTTGCC 0.682 NA 30 127 0 0 0.003271 0 0 DUSP11 8446 broad.mit.edu 37 2 74007070 74007070 + Nonsense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:74007070C>T uc002sjp.2 - 1 215 c.173G>A c.(172-174)TGG>TAG p.W58* DUSP11_uc002sjq.3_Nonsense_Mutation_p.W58* NM_003584 NP_003575 O75319 DUS11_HUMAN dual specificity phosphatase 11 11 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding skin(1) 1 TCTCCGGCCCCAGCCACTGCG 0.622 NA OREG0014714 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 79 0 0 0.00499 0 0 MOGS 7841 broad.mit.edu 37 2 74689757 74689757 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:74689757C>T uc010ffj.2 - 4 1322 c.1159G>A c.(1159-1161)GAG>AAG p.E387K MOGS_uc010ffh.2_Missense_Mutation_p.E112K|MOGS_uc010yrt.1_Missense_Mutation_p.E268K|MOGS_uc010ffi.2_Missense_Mutation_p.E281K NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 387 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 AAAACCTGCTCGCCAGAGCTC 0.587 NA 27 177 0 0 0.005443 0 0 RETSAT 54884 broad.mit.edu 37 2 85576626 85576626 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:85576626C>A uc002spd.2 - 5 1069 c.878G>T c.(877-879)CGA>CTA p.R293L RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.R232L|RETSAT_uc010fgf.2_Missense_Mutation_p.R84L NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 293 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) GGAACCCCCTCGGGGATAAAA 0.577 NA 14 67 3.27435e-08 4.48551e-08 0.00245 1 0 THNSL2 55258 broad.mit.edu 37 2 88474273 88474273 + Missense_Mutation SNP G G T rs149024211 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:88474273G>T uc002ssz.3 + 3 492 c.339G>T c.(337-339)AAG>AAT p.K113N THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.K113N|THNSL2_uc002ssx.3_Missense_Mutation_p.K81N|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.K113N|THNSL2_uc010fhe.2_Translation_Start_Site NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 113 threonine biosynthetic process threonine synthase activity ovary(1) 1 ATGCATTTAAGGACCTGTCCC 0.522 NA 21 80 4.35082e-09 6.20016e-09 0.010504 1 0 CNGA3 1261 broad.mit.edu 37 2 99013028 99013028 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:99013028G>T uc002syt.2 + 8 1812 c.1395G>T c.(1393-1395)AAG>AAT p.K465N CNGA3_uc002syu.2_Missense_Mutation_p.K447N|CNGA3_uc010fij.2_Missense_Mutation_p.K469N NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 465 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 ACAAGCTGAAGGCTGAGATCG 0.577 NA 14 32 9.31168e-06 1.11705e-05 0.001855 1 0 NPAS2 4862 broad.mit.edu 37 2 101591311 101591311 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:101591311A>T uc002tap.1 + 13 1473 c.1187A>T c.(1186-1188)GAC>GTC p.D396V NPAS2_uc010yvt.1_Missense_Mutation_p.D461V|NPAS2_uc010fit.1_5'UTR NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 396 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 AACACACTCGACGTGGGTGCC 0.527 NA 7 53 0 0 0.001984 0 0 MAP4K4 9448 broad.mit.edu 37 2 102476325 102476325 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:102476325A>T uc002tbg.2 + 15 1758 c.1703A>T c.(1702-1704)GAG>GTG p.E568V MAP4K4_uc002tbc.2_Missense_Mutation_p.E568V|MAP4K4_uc002tbd.2_Missense_Mutation_p.E537V|MAP4K4_uc002tbe.2_Missense_Mutation_p.E537V|MAP4K4_uc002tbf.2_Missense_Mutation_p.E537V|MAP4K4_uc010yvy.1_Missense_Mutation_p.E537V|MAP4K4_uc002tbh.2_Missense_Mutation_p.E537V|MAP4K4_uc002tbi.2_Missense_Mutation_p.E421V|MAP4K4_uc010yvz.1_Missense_Mutation_p.E517V|MAP4K4_uc002tbk.2_Missense_Mutation_p.E77V|MAP4K4_uc002tbj.1_Missense_Mutation_p.E433V NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 568 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 CGAGCGCGAGAGGTATCCTCT 0.483 NA 3 12 0 0 0.004672 0 0 ACOXL 55289 broad.mit.edu 37 2 111850528 111850528 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:111850528G>T uc002tgr.3 + 18 1841 c.1617G>T c.(1615-1617)ACG>ACT p.T539T ACOXL_uc010fkc.2_Silent_p.T509T|ACOXL_uc010yxk.1_Silent_p.T509T NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 539 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 TGGCCAGCACGAGGATCAGGA 0.483 NA 14 60 4.3838e-07 5.7223e-07 0.001855 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125521700 125521700 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:125521700G>T uc002tno.2 + 16 2870 c.2506G>T c.(2506-2508)GAC>TAC p.D836Y CNTNAP5_uc010flu.2_Missense_Mutation_p.D837Y NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 836 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGCATTAAAGACTTCATTCG 0.313 NA 16 68 1.02788e-11 1.59309e-11 0.00499 1 0 MYO7B 4648 broad.mit.edu 37 2 128324281 128324281 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:128324281G>T uc002top.2 + 5 402 c.349G>T c.(349-351)GAG>TAG p.E117* NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 117 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CTACACCCTGGAGCAGGTACA 0.592 NA 6 20 0.00116845 0.00128549 0.001168 1 0 NCKAP5 344148 broad.mit.edu 37 2 133541991 133541991 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:133541991T>C uc002ttp.2 - 14 2767 c.2393A>G c.(2392-2394)CAA>CGA p.Q798R NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 798 protein binding 0 TGTCAGATTTTGCTTTTGATA 0.468 NA 36 162 0 0 0.003755 0 0 KYNU 8942 broad.mit.edu 37 2 143715264 143715264 + Silent SNP C C A rs147103103 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:143715264C>A uc002tvl.2 + 7 692 c.562C>A c.(562-564)CGG>AGG p.R188R KYNU_uc002tvk.2_Silent_p.R188R|KYNU_uc010fnm.2_Silent_p.R188R NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 188 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AGAAAGTATGCGGATGATAAA 0.308 NA 10 24 2.80697e-09 4.01807e-09 0.010729 1 0 TTN 7273 broad.mit.edu 37 2 179446892 179446892 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:179446892G>T uc010zfg.1 - 264 58724 c.58500C>A c.(58498-58500)ACC>ACA p.T19500T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T13195T|TTN_uc010zfi.1_Silent_p.T13128T|TTN_uc010zfj.1_Silent_p.T13003T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20427 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTGATCTTTGGTTATGTTGC 0.433 NA 15 93 3.27435e-08 4.48551e-08 0.00245 1 0 TTN 7273 broad.mit.edu 37 2 179455328 179455328 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:179455328G>C uc010zfg.1 - 253 53644 c.53420C>G c.(53419-53421)CCT>CGT p.P17807R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P11502R|TTN_uc010zfi.1_Missense_Mutation_p.P11435R|TTN_uc010zfj.1_Missense_Mutation_p.P11310R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18734 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGATTAATAGGTGGTCCAGG 0.448 NA 19 113 0 0 0.012319 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800718 185800718 + Nonsense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:185800718C>T uc002uph.2 + 4 1189 c.595C>T c.(595-597)CAA>TAA p.Q199* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 199 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AAAAAATAACCAAGTTGGGGA 0.398 NA 5 53 0 0 0.000602 0 0 PGAP1 80055 broad.mit.edu 37 2 197712671 197712671 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:197712671C>A uc002utw.2 - 21 2066 c.1952G>T c.(1951-1953)GGG>GTG p.G651V PGAP1_uc002utx.2_Missense_Mutation_p.G477V|PGAP1_uc002uty.1_3'UTR|PGAP1_uc010fsi.2_5'Flank NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 651 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 TAAAACTTACCCCAACAGAAA 0.294 NA 4 34 0.00909568 0.00960854 0.009096 1 0 ANKRD44 91526 broad.mit.edu 37 2 197878371 197878372 + Missense_Mutation DNP CC CC AA TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:197878371_197878372CC>AA uc002uua.1 - 18 1789_1790 c.1712_1713GG>TT c.(1711-1713)AGG>ATT p.R571I ANKRD44_uc002utz.3_Missense_Mutation_p.R303I NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 596 protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTTTCTCATCCCTGATGTCCAG 0.52 NA 32 200 0 0 0.004672 0 0 SF3B1 23451 broad.mit.edu 37 2 198274687 198274687 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:198274687A>G uc002uue.2 - 7 759 c.711T>C c.(709-711)GGT>GGC p.G237G NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 237 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCTTTGCACGACCTGGTGTCT 0.473 NA 18 69 0 0 0.006122 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174855 207174855 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:207174855T>C uc002vbp.2 + 5 5853 c.5603T>C c.(5602-5604)GTT>GCT p.V1868A NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1868 nucleic acid binding|zinc ion binding ovary(3) 3 ACCAAAAAAGTTTCTTCGAAG 0.413 NA 5 42 0 0 0.000602 0 0 ZDBF2 57683 broad.mit.edu 37 2 207176110 207176110 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:207176110G>T uc002vbp.2 + 5 7108 c.6858G>T c.(6856-6858)ATG>ATT p.M2286I NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2286 nucleic acid binding|zinc ion binding ovary(3) 3 CAAGCGCTATGGCAAATCCTC 0.507 NA 3 17 0.004672 0.00501021 0.004672 1 0 MAP2 4133 broad.mit.edu 37 2 210560641 210560641 + Silent SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:210560641C>G uc002vde.1 + 7 3995 c.3747C>G c.(3745-3747)CTC>CTG p.L1249L MAP2_uc002vdc.1_Silent_p.L1249L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.L1245L NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1249 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATAAACTGCTCTTCCGCTCAG 0.483 Pancreas(27;423 979 28787 29963) NA 11 65 0 0 0.008291 0 0 MYL1 4632 broad.mit.edu 37 2 211163206 211163206 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:211163206G>T uc002vec.2 - 3 371 c.242C>A c.(241-243)GCT>GAT p.A81D MYL1_uc002veb.2_Missense_Mutation_p.A37D NM_079420 NP_524144 P05976 MYL1_HUMAN fast skeletal myosin alkali light chain 1 81 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle ovary(1) 1 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) TGTGCCCAGAGCTCGAAGGAC 0.463 NA 10 96 2.17888e-05 2.55607e-05 0.006214 1 0 ERBB4 2066 broad.mit.edu 37 2 212537946 212537946 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:212537946C>A uc002veg.1 - 14 1757 c.1659G>T c.(1657-1659)GTG>GTT p.V553V ERBB4_uc002veh.1_Silent_p.V553V|ERBB4_uc010zji.1_Silent_p.V553V|ERBB4_uc010zjj.1_Silent_p.V553V|ERBB4_uc010fut.1_Silent_p.V553V NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 553 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) GGTCACACTCCACACAGATGG 0.468 NA TSP Lung(8;0.080) 13 76 2.62699e-14 4.3921e-14 0.003163 1 0 CXCR2 3579 broad.mit.edu 37 2 218999542 218999542 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:218999542G>A uc002vgz.1 + 4 243 c.18G>A c.(16-18)ATG>ATA p.M6I CXCR2_uc002vha.1_Missense_Mutation_p.M6I|CXCR2_uc002vhb.1_Missense_Mutation_p.M6I NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 6 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 ATTTTAACATGGAGAGTGACA 0.403 NA 11 91 0 0 0.008291 0 0 DOCK10 55619 broad.mit.edu 37 2 225729643 225729643 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:225729643T>C uc010fwz.1 - 12 1658 c.1419A>G c.(1417-1419)AGA>AGG p.R473R DOCK10_uc002vob.2_Silent_p.R467R|DOCK10_uc002vod.1_Silent_p.R473R NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 473 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) CTTCTGATTGTCTTGGAGTGA 0.448 NA 8 199 0 0 0.006214 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884712 228884712 + Silent SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:228884712A>T uc002vpq.2 - 7 905 c.858T>A c.(856-858)TCT>TCA p.S286S SPHKAP_uc002vpp.2_Silent_p.S286S|SPHKAP_uc010zlx.1_Silent_p.S286S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 286 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGTTTTCTGGAGATCGTTCTG 0.443 NA 24 198 0 0 0.00278 0 0 SDCBP2 27111 broad.mit.edu 37 20 1298980 1298980 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr20:1298980C>G uc002wev.3 - 4 336 c.207G>C c.(205-207)CAG>CAC p.Q69H FKBP1A_uc010gac.2_Missense_Mutation_p.Q69H|SDCBP2_uc010zpq.1_Missense_Mutation_p.Q69H NM_080489 NP_536737 Q9H190 SDCB2_HUMAN syndecan binding protein 2 isoform a 69 Q -> H (in Ref. 2; CAC21716). intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity large_intestine(1)|skin(1) 2 CCTCTGGAATCTGAAGCAGGC 0.493 NA 10 40 0 0 0.013537 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128895 3128895 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr20:3128895C>G uc002whz.2 - 2 1133 c.822G>C c.(820-822)AAG>AAC p.K274N uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 274 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 AGGATAGATCCTTCCAGTGCA 0.383 NA 13 47 0 0 0.013537 0 0 FLRT3 23767 broad.mit.edu 37 20 14307338 14307338 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr20:14307338T>C uc002wov.1 - 3 1282 c.815A>G c.(814-816)CAG>CGG p.Q272R MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.Q272R NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 272 Extracellular (Potential).|LRR 10. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TCGATAGAGCTGCCTTAGATA 0.403 NA 16 52 0 0 0.004007 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr20:29625877G>A uc010ztl.1 + 2 63 c.31G>A c.(31-33)GCC>ACC p.A11T FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GTACAGAATCGCCCTGAAATC 0.353 NA 3 39 0 0 0.009096 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37546820 37546820 + Silent SNP C C G rs138542212 by1000genomes TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr20:37546820C>G uc002xje.2 + 11 1404 c.1215C>G c.(1213-1215)CCC>CCG p.P405P PPP1R16B_uc010ggc.2_Silent_p.P363P NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 405 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TGGAGAAGCCCGTGCTACTCT 0.537 NA 36 133 0 0 0.004878 0 0 TOX2 84969 broad.mit.edu 37 20 42680134 42680134 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr20:42680134C>A uc002xlf.3 + 4 644 c.627C>A c.(625-627)ACC>ACA p.T209T TOX2_uc010ggo.2_Silent_p.T200T|TOX2_uc002xle.3_Silent_p.T158T|TOX2_uc010ggp.2_Silent_p.T158T|TOX2_uc002xlg.2_Silent_p.T158T|TOX2_uc010zwk.1_Silent_p.T78T NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGTCAGCGACCCCCTCTCCCT 0.627 NA 8 24 0.00448238 0.00485591 0.004482 1 0 PDE9A 5152 broad.mit.edu 37 21 44152188 44152188 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr21:44152188G>A uc002zbm.2 + 6 514 c.451G>A c.(451-453)GAA>AAA p.E151K PDE9A_uc002zbn.2_Missense_Mutation_p.E24K|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_5'UTR|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_5'UTR|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Missense_Mutation_p.E91K|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Missense_Mutation_p.E43K|PDE9A_uc002zca.2_Missense_Mutation_p.E110K|PDE9A_uc002zcb.2_Missense_Mutation_p.E125K|PDE9A_uc002zcc.2_Missense_Mutation_p.E50K|PDE9A_uc002zcd.2_Missense_Mutation_p.E65K|PDE9A_uc002zce.2_Missense_Mutation_p.E84K|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_5'UTR|PDE9A_uc002zch.2_5'UTR NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 151 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 AGAGAGAGAAGAATTAATCCA 0.488 NA 9 27 0 0 0.008291 0 0 NDUFV3 4731 broad.mit.edu 37 21 44317035 44317035 + Splice_Site SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr21:44317035A>T uc002zcn.2 + 2 115 c.49_splice c.e2-2 p.T17_splice NDUFV3_uc002zcm.2_Splice_Site_p.T17_splice NM_001001503 NP_001001503 P56181 NDUV3_HUMAN NADH-ubiquinone oxidoreductase flavoprotein 3 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity ovary(2) 2 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) TTCTTTTGTCAGACTATGCTC 0.343 NA 3 57 0 0 0.001168 0 0 AIRE 326 broad.mit.edu 37 21 45711088 45711088 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr21:45711088C>A uc002zei.2 + 8 1117 c.990C>A c.(988-990)ATC>ATA p.I330I AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Silent_p.I133I|AIRE_uc010gpr.2_Silent_p.I133I NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 330 PHD-type 1. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) TCCGGGAGATCCCCAGGTGAG 0.701 NA Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 10 24 0.00621372 0.00663005 0.006214 1 0 MCM5 4174 broad.mit.edu 37 22 35809931 35809931 + Silent SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr22:35809931A>T uc003anu.3 + 9 1249 c.1155A>T c.(1153-1155)ACA>ACT p.T385T MCM5_uc010gwr.2_Silent_p.T194T|MCM5_uc003anv.3_Silent_p.T342T|MCM5_uc010gws.1_Intron|MCM5_uc003anw.1_Silent_p.T169T NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 385 MCM.|ATP (Potential). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 ACCCTGGGACAGCCAAGTCCC 0.577 NA 9 52 0 0 0.006214 0 0 MLC1 23209 broad.mit.edu 37 22 50518354 50518354 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr22:50518354G>C uc003bjg.1 - 5 689 c.416C>G c.(415-417)GCA>GGA p.A139G MLC1_uc011arl.1_Intron|MLC1_uc003bjh.1_Missense_Mutation_p.A139G|MLC1_uc011arm.1_Missense_Mutation_p.A109G|MLC1_uc011arn.1_Missense_Mutation_p.A60G|MLC1_uc011aro.1_Intron NM_139202 NP_631941 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with 139 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity pancreas(1) 1 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CACGTTTATTGCTGATGGGTT 0.463 NA 18 63 0 0 0.008871 0 0 HDAC11 79885 broad.mit.edu 37 3 13546070 13546070 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:13546070A>G uc003bxy.2 + 10 1064 c.931A>G c.(931-933)ATC>GTC p.I311V HDAC11_uc010heb.2_3'UTR|HDAC11_uc011aux.1_Missense_Mutation_p.I119V|HDAC11_uc011auy.1_Missense_Mutation_p.I260V NM_024827 NP_079103 Q96DB2 HDA11_HUMAN histone deacetylase 11 isoform 1 311 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding ovary(2) 2 CACAGCCCGCATCATTGCTGA 0.612 NA 7 65 0 0 0.001984 0 0 WNT7A 7476 broad.mit.edu 37 3 13896107 13896107 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:13896107C>A uc003bye.1 - 3 797 c.492G>T c.(490-492)AAG>AAT p.K164N NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 164 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 CCACAAAGACCTTGGCGAAGC 0.612 NA 15 184 3.27435e-08 4.48551e-08 0.00245 1 0 C3orf20 84077 broad.mit.edu 37 3 14798940 14798940 + Missense_Mutation SNP T T G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:14798940T>G uc003byy.2 + 13 2407 c.2003T>G c.(2002-2004)CTG>CGG p.L668R C3orf20_uc003byz.2_Missense_Mutation_p.L546R|C3orf20_uc003bza.2_Missense_Mutation_p.L546R|C3orf20_uc003bzb.1_Missense_Mutation_p.L169R|C3orf20_uc011avj.1_5'UTR NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 668 cytoplasm|integral to membrane ovary(3)|skin(1) 4 GACTGCCCGCTGGTGCTGCGG 0.672 NA 13 46 0 0 0.013537 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15116382 15116382 + Missense_Mutation SNP C C A rs139040870 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:15116382C>A uc003bzm.1 - 14 1876 c.1262G>T c.(1261-1263)CGA>CTA p.R421L ZFYVE20_uc010hek.1_Missense_Mutation_p.R421L NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 421 Necessary for the interaction with RAB4A.|Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 GTTGGCCGCTCGAGAAGCCAG 0.632 NA 9 63 1.58986e-06 2.01341e-06 0.008291 1 0 COLQ 8292 broad.mit.edu 37 3 15499779 15499779 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:15499779T>C uc003bzx.2 - 13 994 c.868A>G c.(868-870)AGA>GGA p.R290G COLQ_uc003bzv.2_Missense_Mutation_p.R280G|COLQ_uc003bzz.2_Missense_Mutation_p.R281G|COLQ_uc010heo.2_Missense_Mutation_p.R256G|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.R149G|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 290 Collagen-like 2. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 CAAAGACATCTTCCTGGAGGC 0.507 NA 14 72 0 0 0.00245 0 0 KCNH8 131096 broad.mit.edu 37 3 19575454 19575454 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:19575454T>A uc003cbk.1 + 16 3382 c.3187T>A c.(3187-3189)TTC>ATC p.F1063I KCNH8_uc010hex.1_Missense_Mutation_p.F524I NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 1063 Ser-rich.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TGTGAGTTCCTTCAGTCTGGA 0.483 NSCLC(124;1625 1765 8018 24930 42026) NA 9 70 0 0 0.004482 0 0 MYRIP 25924 broad.mit.edu 37 3 39942332 39942332 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:39942332G>A uc003cka.2 + 2 160 c.25G>A c.(25-27)GGT>AGT p.G9S MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.G9S|MYRIP_uc010hhw.2_5'UTR|MYRIP_uc010hhx.1_Missense_Mutation_p.G9S NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 9 RabBD. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GGACCTGTCTGGTTTGACTGA 0.418 NA 19 91 0 0 0.00278 0 0 COL7A1 1294 broad.mit.edu 37 3 48628953 48628953 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:48628953G>T uc003ctz.2 - 12 1581 c.1580C>A c.(1579-1581)TCC>TAC p.S527Y NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 527 Fibronectin type-III 4.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGGCTCCAGGACACTCGCAC 0.642 NA 14 95 2.61681e-11 4.01665e-11 0.00245 1 0 PARP3 10039 broad.mit.edu 37 3 51978525 51978525 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:51978525G>A uc003dby.2 + 4 803 c.432G>A c.(430-432)GTG>GTA p.V144V RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.V151V NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 144 DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ACCACTTTGTGTCTCACCCGG 0.517 NA 20 149 0 0 0.010504 0 0 ACTR8 93973 broad.mit.edu 37 3 53904143 53904143 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:53904143T>A uc003dhd.2 - 12 1656 c.1597A>T c.(1597-1599)AGC>TGC p.S533C ACTR8_uc003dhb.2_Missense_Mutation_p.S238C|ACTR8_uc003dhc.2_Missense_Mutation_p.S422C NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 533 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) AGGATGGAGCTGTACATCTTC 0.348 NA 12 66 0 0 0.00245 0 0 FLJ10213 55096 broad.mit.edu 37 3 73111553 73111553 + Silent SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:73111553C>G uc003dpj.2 + 1 744 c.321C>G c.(319-321)GCC>GCG p.A107A PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron NM_018029 NP_060499 Q6P2I7 EBLN2_HUMAN hypothetical protein LOC55096 107 protein binding 0 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;3.9e-05)|BRCA - Breast invasive adenocarcinoma(55;7.72e-05)|LUSC - Lung squamous cell carcinoma(21;0.00156)|Lung(16;0.00487)|KIRC - Kidney renal clear cell carcinoma(39;0.012)|Kidney(39;0.0139) AAAAAGCAGCCAAGTCTATGC 0.423 NA 4 20 0 0 0.009096 0 0 EPHA3 2042 broad.mit.edu 37 3 89499492 89499492 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:89499492C>A uc003dqy.2 + 15 2887 c.2662C>A c.(2662-2664)CTG>ATG p.L888M EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 888 Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TCCCGGCAGCCTGAAGATCAT 0.443 NA TSP Lung(6;0.00050) 10 50 0.000442599 0.000496366 0.006214 1 0 PROS1 5627 broad.mit.edu 37 3 93615497 93615497 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:93615497C>A uc003drb.3 - 9 1229 c.888G>T c.(886-888)AAG>AAT p.K296N PROS1_uc010hoo.2_Missense_Mutation_p.K165N|PROS1_uc003dqz.3_Missense_Mutation_p.K165N NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 296 leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GTAATTCATACTTTGTGTCAA 0.363 NA 33 136 1.07637e-12 1.72707e-12 0.004878 1 0 C3orf30 152405 broad.mit.edu 37 3 118865732 118865732 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:118865732C>A uc003ecb.1 + 1 736 c.696C>A c.(694-696)GTC>GTA p.V232V IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.V232V NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 232 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) GGTCATCCGTCCCATCTGACC 0.488 NA 15 85 4.14922e-12 6.54221e-12 0.004007 1 0 C3orf30 152405 broad.mit.edu 37 3 118865747 118865747 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:118865747T>A uc003ecb.1 + 1 751 c.711T>A c.(709-711)AGT>AGA p.S237R IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.S237R NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 237 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) CTGACCAAAGTCCTTCTGTAC 0.458 NA 7 85 0 0 0.008291 0 0 C3orf30 152405 broad.mit.edu 37 3 118865753 118865753 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:118865753T>C uc003ecb.1 + 1 757 c.717T>C c.(715-717)TCT>TCC p.S239S IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.S239S NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 239 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) AAAGTCCTTCTGTACAGATTG 0.463 NA 7 84 0 0 0.004482 0 0 C3orf30 152405 broad.mit.edu 37 3 118865771 118865771 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:118865771A>G uc003ecb.1 + 1 775 c.735A>G c.(733-735)GGA>GGG p.G245G IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.G245G NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 245 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) TTGACAGTGGATCGTCCGTAC 0.463 NA 5 81 0 0 0.00308 0 0 C3orf30 152405 broad.mit.edu 37 3 118865774 118865774 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:118865774G>A uc003ecb.1 + 1 778 c.738G>A c.(736-738)TCG>TCA p.S246S IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.S246S NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 246 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) ACAGTGGATCGTCCGTACCAT 0.468 NA 5 80 0 0 0.00308 0 0 PLA1A 51365 broad.mit.edu 37 3 119325679 119325679 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:119325679T>C uc003ecu.2 + 2 171 c.132T>C c.(130-132)TTT>TTC p.F44F PLA1A_uc003ecv.2_Silent_p.F44F|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 44 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CCAACCTTTTTGAAGGCACCG 0.512 NA 31 155 0 0 0.012213 0 0 GTF2E1 2960 broad.mit.edu 37 3 120489651 120489651 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:120489651A>G uc003edz.3 + 3 639 c.525A>G c.(523-525)ACA>ACG p.T175T NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 175 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) ATGCACGCACACTTTTGGCAA 0.428 NA 30 223 0 0 0.008361 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414623 121414623 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:121414623C>A uc003eei.3 - 13 4858 c.4732G>T c.(4732-4734)GGT>TGT p.G1578C GOLGB1_uc010hrc.2_Missense_Mutation_p.G1583C|GOLGB1_uc003eej.3_Missense_Mutation_p.G1544C|GOLGB1_uc011bjm.1_Missense_Mutation_p.G1464C|GOLGB1_uc010hrd.1_Missense_Mutation_p.G1542C NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1578 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCAGTAAGACCCTCTAGAGCT 0.383 NA 14 91 9.31168e-06 1.11705e-05 0.001855 1 0 PODXL2 50512 broad.mit.edu 37 3 127379625 127379625 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:127379625A>G uc003ejq.2 + 3 778 c.754A>G c.(754-756)ACA>GCA p.T252A NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 252 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 CACCCCAACTACAGTGACTCC 0.627 NA 11 62 0 0 0.008291 0 0 DNAJC13 23317 broad.mit.edu 37 3 132226082 132226082 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:132226082G>T uc003eor.2 + 43 5065 c.5000G>T c.(4999-5001)GGT>GTT p.G1667V NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1667 heat shock protein binding ovary(1)|breast(1) 2 TTTAAAAAGGGTGATTGTGAC 0.308 NA 9 59 0.00448238 0.00485591 0.004482 1 0 CLSTN2 64084 broad.mit.edu 37 3 140185493 140185493 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:140185493C>A uc003etn.2 + 8 1454 c.1264C>A c.(1264-1266)CGC>AGC p.R422S CLSTN2_uc003etm.2_Missense_Mutation_p.R422S NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 422 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GCACAACTGCCGCCTCGTCTT 0.542 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 4 72 1.024e-07 1.38197e-07 0.000602 1 0 ZIC4 84107 broad.mit.edu 37 3 147108970 147108970 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:147108970C>T uc003ewd.1 - 4 1025 c.752G>A c.(751-753)CGT>CAT p.R251H ZIC4_uc003ewc.1_Missense_Mutation_p.R181H|ZIC4_uc011bno.1_Missense_Mutation_p.R301H NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 251 C2H2-type 4. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 ATGCTTCTTACGGTCGCTGCT 0.617 NA 5 39 0 0 0.001984 0 0 ZIC4 84107 broad.mit.edu 37 3 147113693 147113693 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:147113693C>A uc003ewd.1 - 3 907 c.634G>T c.(634-636)GGG>TGG p.G212W ZIC4_uc003ewc.1_Missense_Mutation_p.G142W|ZIC4_uc011bno.1_Missense_Mutation_p.G262W NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 212 C2H2-type 3. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 AAGACCTTCCCACACCCCGGG 0.537 NA 29 128 4.87955e-14 8.05253e-14 0.005443 1 0 SLITRK3 22865 broad.mit.edu 37 3 164906009 164906009 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:164906009C>A uc003fej.3 - 2 3054 c.2610G>T c.(2608-2610)GTG>GTT p.V870V SLITRK3_uc003fek.2_Silent_p.V870V NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 870 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GAGGAAACAGCACCACCCCAC 0.587 NA HNSCC(40;0.11) 21 120 7.45023e-12 1.16604e-11 0.010504 1 0 KLHL6 89857 broad.mit.edu 37 3 183209738 183209738 + Missense_Mutation SNP C C A rs146413670 byFrequency TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:183209738C>A uc003flr.2 - 7 1901 c.1843G>T c.(1843-1845)GTG>TTG p.V615L KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 615 haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GCTCCGGGCACGATCCTGCGG 0.667 NA 12 90 5.50884e-06 6.65869e-06 0.013537 1 0 EIF4A2 1974 broad.mit.edu 37 3 186503788 186503788 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:186503788T>C uc003fqs.2 + 5 504 c.465T>C c.(463-465)ATT>ATC p.I155I EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Silent_p.I156I|EIF4A2_uc003fqv.2_Silent_p.I60I|EIF4A2_uc003fqw.2_Silent_p.I60I|EIF4A2_uc011bsb.1_Silent_p.I28I|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 155 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) CACCACATATTGTTGTTGGTA 0.383 NA T BCL6 NHL 6 49 0 0 0.001168 0 0 LRRC15 131578 broad.mit.edu 37 3 194081447 194081447 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:194081447G>T uc003ftu.2 - 2 412 c.326C>A c.(325-327)GCC>GAC p.A109D LRRC15_uc003ftt.2_Missense_Mutation_p.A115D NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 109 LRR 3.|Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CTTGTTGTTGGCGAGGCTGAG 0.602 NA 7 71 2.0095e-06 2.5099e-06 0.001984 1 0 TACC3 10460 broad.mit.edu 37 4 1733028 1733028 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:1733028G>A uc003gdo.2 + 6 1699 c.1591G>A c.(1591-1593)GTT>ATT p.V531I TACC3_uc010ibz.2_Missense_Mutation_p.V531I|TACC3_uc003gdp.2_Missense_Mutation_p.V171I|TACC3_uc010ica.2_5'UTR NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 531 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CCCCGCTGAGGGTACGTTGCC 0.622 Ovarian(120;482 2294 11894 35824) NA 16 56 0 0 0.00499 0 0 LYAR 55646 broad.mit.edu 37 4 4275328 4275328 + Missense_Mutation SNP C C A rs79312020 by1000genomes TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:4275328C>A uc011bvy.1 - 8 1044 c.901G>T c.(901-903)GAT>TAT p.D301Y LYAR_uc011bvx.1_Missense_Mutation_p.D184Y|LYAR_uc003ght.2_Missense_Mutation_p.D301Y NM_001145725 NP_001139197 Q9NX58 LYAR_HUMAN Ly1 antibody reactive homolog 301 Lys-rich. nucleolus metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGAGCCTCATCGTCTTCTGGT 0.308 NA 17 84 3.52763e-06 4.34642e-06 0.00499 1 0 CCKAR 886 broad.mit.edu 37 4 26483303 26483303 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:26483303C>A uc003gse.1 - 5 1397 c.1244G>T c.(1243-1245)AGG>ATG p.R415M NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 415 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) GTACGAGAACCTGGACAGAGA 0.552 NA 24 131 3.6726e-16 6.42705e-16 0.003954 1 0 KIT 3815 broad.mit.edu 37 4 55602663 55602663 + Splice_Site SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:55602663G>A uc010igr.2 + 18 2572 c.2485_splice c.e18-1 p.A829_splice KIT_uc010igs.2_Splice_Site_p.A825_splice NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTCTATTACAGGCTCGACTAC 0.403 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 18 86 0 0 0.007413 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182249 57182249 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:57182249G>T uc003hbk.2 + 8 2972 c.2581G>T c.(2581-2583)GAC>TAC p.D861Y KIAA1211_uc010iha.2_Missense_Mutation_p.D854Y|KIAA1211_uc011bzz.1_Missense_Mutation_p.D771Y|KIAA1211_uc003hbm.1_Missense_Mutation_p.D747Y NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 861 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CTTCAACTGCGACCAACAGGC 0.552 NA 6 44 0.00116845 0.00128549 0.001168 1 0 LPHN3 23284 broad.mit.edu 37 4 62598746 62598746 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:62598746G>C uc010ihh.2 + 5 842 c.669G>C c.(667-669)GAG>GAC p.E223D LPHN3_uc003hcq.3_Missense_Mutation_p.E223D|LPHN3_uc010ihg.1_Missense_Mutation_p.E291D|LPHN3_uc003hcs.1_Missense_Mutation_p.E52D NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 223 Extracellular (Potential).|Olfactomedin-like. 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 TCAACAAAGAGCGCACCAGGA 0.448 NA 8 42 0 0 0.004482 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68688116 68688116 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:68688116G>T uc003hdq.2 - 10 1261 c.1196C>A c.(1195-1197)CCA>CAA p.P399Q LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.P180Q|TMPRSS11D_uc011caj.1_Missense_Mutation_p.P282Q NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 399 Peptidase S1.|Extracellular (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 ATACACTCCTGGCTTATCCGG 0.517 NA 20 135 4.96729e-08 6.74662e-08 0.008871 1 0 UGT2B10 7365 broad.mit.edu 37 4 69870707 69870707 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:69870707A>T uc011cao.1 - 9 1479 c.1343T>A c.(1342-1344)TTC>TAC p.F448Y UGT2B10_uc011can.1_Missense_Mutation_p.F364Y P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 485 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GTGGTACTGGAACCAGGTGAG 0.488 Melanoma(133;755 1763 25578 26334 46021) NA 32 164 0 0 0.013726 0 0 UGT2B4 7363 broad.mit.edu 37 4 70360873 70360873 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:70360873T>A uc003hek.3 - 1 754 c.707A>T c.(706-708)TAC>TTC p.Y236F UGT2B4_uc011cap.1_Missense_Mutation_p.Y100F|UGT2B4_uc003hel.3_Missense_Mutation_p.Y236F NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 236 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 AACTTCACTGTAGAACTGATC 0.333 NA 11 54 0 0 0.001855 0 0 ALB 213 broad.mit.edu 37 4 74285336 74285336 + Nonsense_Mutation SNP G G T rs75709682 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:74285336G>T uc003hgs.3 + 13 1838 c.1765G>T c.(1765-1767)GAG>TAG p.E589* ALB_uc003hgw.3_Nonsense_Mutation_p.E397*|ALB_uc011cbe.1_Nonsense_Mutation_p.E268*|ALB_uc003hgt.3_Nonsense_Mutation_p.E589*|ALB_uc010iii.2_Nonsense_Mutation_p.E474*|ALB_uc003hgu.3_Nonsense_Mutation_p.E439*|ALB_uc003hgv.3_Nonsense_Mutation_p.E268*|ALB_uc011cbf.1_Nonsense_Mutation_p.E479*|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Nonsense_Mutation_p.E268* NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 589 Albumin 3. E -> K (in Osaka-1). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGACGATAAGGAGACCTGCTT 0.428 NA 13 75 1.3612e-06 1.74114e-06 0.003163 1 0 BMP3 651 broad.mit.edu 37 4 81967361 81967361 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:81967361C>T uc003hmg.3 + 2 1106 c.786C>T c.(784-786)CAC>CAT p.H262H NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 262 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 TACAGGGACACCGGAATTTTC 0.498 NA 17 97 0 0 0.004007 0 0 AFF1 4299 broad.mit.edu 37 4 88055667 88055667 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:88055667C>T uc003hqj.3 + 19 3739 c.3332C>T c.(3331-3333)GCC>GTC p.A1111V AFF1_uc011ccz.1_Missense_Mutation_p.A1119V|AFF1_uc003hqk.3_Missense_Mutation_p.A1112V|AFF1_uc011cda.1_Missense_Mutation_p.A750V NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1111 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCTTCTCCTGCCAGCTCCGTA 0.567 NA 83 374 0 0 0.01441 0 0 ADH1B 125 broad.mit.edu 37 4 100231927 100231927 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:100231927C>T uc003hus.3 - 8 1182 c.1098G>A c.(1096-1098)GGG>GGA p.G366G ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.G326G|ADH1B_uc011ceh.1_Silent_p.G211G|ADH1B_uc011cei.1_Silent_p.G326G NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 366 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TCTACCTTTTCCCAGAGTGAA 0.338 NA 13 41 0 0 0.013537 0 0 CENPE 1062 broad.mit.edu 37 4 104101595 104101595 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:104101595T>A uc003hxb.1 - 13 1205 c.1115A>T c.(1114-1116)GAA>GTA p.E372V CENPE_uc003hxc.1_Missense_Mutation_p.E372V NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 372 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTGGTCTTTTTCCATTGCCTG 0.353 NA 5 43 0 0 0.001984 0 0 PITX2 5308 broad.mit.edu 37 4 111539669 111539669 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:111539669A>T uc003iad.2 - 5 1148 c.566T>A c.(565-567)CTA>CAA p.L189Q PITX2_uc003iac.2_Missense_Mutation_p.L196Q|PITX2_uc003iae.2_Missense_Mutation_p.L143Q|PITX2_uc010iml.2_Missense_Mutation_p.L60Q|PITX2_uc003iaf.2_Missense_Mutation_p.L189Q NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 189 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CTTGGTGGATAGGGAGGCGGA 0.547 NA 13 50 0 0 0.013537 0 0 ANK2 287 broad.mit.edu 37 4 114158754 114158754 + Splice_Site SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:114158754G>T uc003ibe.3 + 7 770 c.670_splice c.e7-1 p.M224_splice ANK2_uc003ibd.3_Splice_Site_p.M203_splice|ANK2_uc003ibf.3_Splice_Site_p.M224_splice|ANK2_uc003ibc.2_Splice_Site_p.M200_splice|ANK2_uc011cgb.1_Splice_Site_p.M239_splice NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 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) CACTGCTTCAGATGATGGTGA 0.363 NA 12 56 0.00185496 0.00203726 0.001855 1 0 TRPC3 7222 broad.mit.edu 37 4 122831533 122831533 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:122831533C>A uc003ieg.2 - 6 1642 c.1568G>T c.(1567-1569)TGG>TTG p.W523L TRPC3_uc010inr.2_Missense_Mutation_p.W395L|TRPC3_uc003ief.2_Missense_Mutation_p.W450L|TRPC3_uc011cgl.1_Missense_Mutation_p.W187L NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 438 Helical; (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 ACATTCAGACCACATCATTCC 0.463 NA 14 61 4.3838e-07 5.7223e-07 0.001855 1 0 KIAA0922 23240 broad.mit.edu 37 4 154525149 154525149 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:154525149C>T uc003inm.3 + 25 3034 c.2982C>T c.(2980-2982)GCC>GCT p.A994A KIAA0922_uc010ipp.2_Silent_p.A995A|KIAA0922_uc010ipq.2_Silent_p.A763A NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 994 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CAGCTGCGGCCAGCAGCACCA 0.512 NA 8 70 0 0 0.004482 0 0 FAM198B 51313 broad.mit.edu 37 4 159048600 159048600 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:159048600T>C uc003ipp.3 - 5 1971 c.1519A>G c.(1519-1521)ATC>GTC p.I507V FAM198B_uc003ipq.3_Missense_Mutation_p.I515V|FAM198B_uc003ipr.3_Missense_Mutation_p.I507V NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 507 Extracellular (Potential). Golgi membrane|integral to membrane 0 TGTGCATTGATATAGGTGATA 0.338 NA 35 157 0 0 0.005524 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160252815 160252815 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:160252815G>A uc003iqg.3 + 9 1436 c.1126G>A c.(1126-1128)GCG>ACG p.A376T NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 376 N-terminal Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GTTGAATATCGCGTGTGCTGC 0.403 NA 13 69 0 0 0.003163 0 0 NPY1R 4886 broad.mit.edu 37 4 164247633 164247633 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:164247633A>G uc003iqm.1 - 2 340 c.74T>C c.(73-75)CTT>CCT p.L25P NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 25 Extracellular (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAAAGCCAGAAGCTGGGCATT 0.378 NA 7 49 0 0 0.001984 0 0 NPY5R 4889 broad.mit.edu 37 4 164271488 164271488 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:164271488C>A uc003iqn.2 + 4 245 c.63C>A c.(61-63)GCC>GCA p.A21A NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 21 Extracellular (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) ATACTGCTGCCACTCGGAATT 0.383 Melanoma(139;1287 1774 9781 19750 25599) NA 14 50 7.93312e-07 1.01678e-06 0.00245 1 0 TLL1 7092 broad.mit.edu 37 4 167012334 167012334 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:167012334G>C uc003irh.1 + 19 3144 c.2497G>C c.(2497-2499)GAA>CAA p.E833Q TLL1_uc011cjn.1_Missense_Mutation_p.E856Q|TLL1_uc011cjo.1_Missense_Mutation_p.E657Q NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 833 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGACCACTTAGAAGTATTTGA 0.333 NA 7 40 0 0 0.004482 0 0 GPM6A 2823 broad.mit.edu 37 4 176561298 176561298 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:176561298C>T uc003iuf.2 - 6 1470 c.666G>A c.(664-666)GGG>GGA p.G222G GPM6A_uc011ckj.1_Silent_p.G215G|GPM6A_uc003iug.2_Silent_p.G222G|GPM6A_uc003iuh.2_Silent_p.G211G NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 222 Helical; (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TGACTGCTGCCCCAGCTCCAG 0.428 NA 12 59 0 0 0.010729 0 0 ACSL1 2180 broad.mit.edu 37 4 185694265 185694265 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:185694265G>A uc003iww.2 - 10 1179 c.885C>T c.(883-885)AGC>AGT p.S295S ACSL1_uc011ckm.1_Silent_p.S124S|ACSL1_uc003iwt.1_Silent_p.S295S|ACSL1_uc003iwu.1_Silent_p.S295S|ACSL1_uc011ckn.1_Silent_p.S261S|ACSL1_uc003iwv.1_Silent_p.S295S|ACSL1_uc010ise.1_RNA NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 295 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CTGAACAATCGCTCACTATGT 0.428 NA 11 48 0 0 0.001855 0 0 SORBS2 8470 broad.mit.edu 37 4 186544881 186544881 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:186544881G>A uc003iyl.2 - 13 2548 c.1690C>T c.(1690-1692)CCC>TCC p.P564S SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.P664S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.P468S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.P678S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 564 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CCCCGAGCGGGGGGGCCGCTT 0.582 Esophageal Squamous(153;41 2433 9491 36028) NA 11 68 0 0 0.008291 0 0 LRRC14B 389257 broad.mit.edu 37 5 195068 195068 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:195068T>A uc003jal.1 + 2 1173 c.1145T>A c.(1144-1146)CTG>CAG p.L382Q NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 382 skin(1) 1 ATGCTGATCCTGGGCCTGAGC 0.662 NA 19 48 0 0 0.007413 0 0 TPPP 11076 broad.mit.edu 37 5 678034 678034 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:678034G>A uc003jbg.3 - 1 860 c.142C>T c.(142-144)CTC>TTC p.L48F TPPP_uc003jbh.3_Missense_Mutation_p.L48F NM_007030 NP_008961 O94811 TPPP_HUMAN tubulin polymerization promoting protein 48 Mediates interaction with LIMK1. microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding 0 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) AGGGCACTGAGCTCAGGGGAT 0.697 NA 8 62 0 0 0.004482 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239793 5239793 + Splice_Site SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:5239793G>T uc003jdl.2 + 16 2417 c.2279_splice c.e16-1 p.Q760_splice ADAMTS16_uc003jdk.1_Splice_Site_p.Q760_splice NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CCTTTATCTAGAGTATTATCA 0.458 NA 32 105 1.03484e-13 1.69023e-13 0.005524 1 0 MARCH6 10299 broad.mit.edu 37 5 10407232 10407232 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:10407232G>T uc003jet.1 + 17 1654 c.1471G>T c.(1471-1473)GTC>TTC p.V491F MARCH6_uc011cmu.1_Missense_Mutation_p.V443F|MARCH6_uc003jeu.1_Missense_Mutation_p.V189F|MARCH6_uc011cmv.1_Missense_Mutation_p.V386F NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 491 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TGGCTCCATTGTCCTCCTGAT 0.408 NA 40 125 1.59932e-28 3.02305e-28 0.007835 1 0 CTNND2 1501 broad.mit.edu 37 5 11117652 11117652 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:11117652G>T uc003jfa.1 - 13 2332 c.2187C>A c.(2185-2187)GCC>GCA p.A729A CTNND2_uc010itt.2_Silent_p.A638A|CTNND2_uc011cmy.1_Silent_p.A392A|CTNND2_uc011cmz.1_Silent_p.A296A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A296A NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 729 ARM 6. 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 TCCTTCTGCGGGCCTCCTCTC 0.537 NA 20 125 5.03518e-11 7.67323e-11 0.007413 1 0 CTNND2 1501 broad.mit.edu 37 5 11732360 11732360 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:11732360G>T uc003jfa.1 - 2 207 c.62C>A c.(61-63)CCT>CAT p.P21H CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 21 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 GGCTGATGAAGGCTGGTCTGG 0.507 NA 31 71 5.45727e-16 9.49803e-16 0.008361 1 0 CDH12 1010 broad.mit.edu 37 5 21752095 21752095 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:21752095G>A uc010iuc.2 - 12 2594 c.2136C>T c.(2134-2136)GAC>GAT p.D712D CDH12_uc011cno.1_Silent_p.D672D|CDH12_uc003jgk.2_Silent_p.D712D|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 712 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AATCCCTTATGTCTGTGTTAT 0.453 NA HNSCC(59;0.17) 12 67 0 0 0.003163 0 0 TARS 6897 broad.mit.edu 37 5 33462222 33462222 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:33462222G>A uc003jhy.2 + 16 2044 c.1749G>A c.(1747-1749)AAG>AAA p.K583K TARS_uc011cob.1_Silent_p.K571K|TARS_uc010iup.1_Silent_p.K524K|TARS_uc011coc.1_Silent_p.K604K|TARS_uc003jhz.2_Silent_p.K479K|TARS_uc011cod.1_Silent_p.K462K NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 583 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) GTGATGATAAGAAAAGGCCAG 0.353 NA 20 104 0 0 0.010504 0 0 IL7R 3575 broad.mit.edu 37 5 35871178 35871178 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:35871178G>T uc003jjs.2 + 4 489 c.400G>T c.(400-402)GAC>TAC p.D134Y IL7R_uc011coo.1_Missense_Mutation_p.D134Y|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 134 Extracellular (Potential).|Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GGCTCCTTTTGACCTGAGTGT 0.363 NA 14 44 1.49906e-05 1.77162e-05 0.00245 1 0 C5orf42 65250 broad.mit.edu 37 5 37169412 37169412 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:37169412G>A uc011cpa.1 - 34 6945 c.6714C>T c.(6712-6714)CCC>CCT p.P2238P C5orf42_uc011coy.1_Silent_p.P738P|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.P1313P|C5orf42_uc003jkr.1_Silent_p.P271P NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2238 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GTAAGAAAAGGGGCTGGAATT 0.443 NA 13 136 0 0 0.00245 0 0 HCN1 348980 broad.mit.edu 37 5 45262209 45262209 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:45262209T>C uc003jok.2 - 8 2512 c.2487A>G c.(2485-2487)GCA>GCG p.A829A NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 829 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TCCTGCCCCCTGCCTGAAGGC 0.672 NA 13 50 0 0 0.001855 0 0 ACTBL2 345651 broad.mit.edu 37 5 56777820 56777820 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:56777820G>T uc003jrm.2 - 1 817 c.715C>A c.(715-717)CGG>AGG p.R239R NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 239 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) TCATAGCTCCGTTCCGGTGAG 0.547 NA 13 60 1.61879e-10 2.41492e-10 0.013537 1 0 MSH3 4437 broad.mit.edu 37 5 80109418 80109418 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:80109418G>T uc003kgz.2 + 20 2924 c.2671G>T c.(2671-2673)GTA>TTA p.V891L NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 891 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CTCAGAGAGAGTAATGATAAT 0.368 Melanoma(88;1010 1399 13793 26548 36275) NA MMR 10 56 2.74318e-10 4.07321e-10 0.006214 1 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:94030836C>A uc003kkr.3 + 21 3076 c.2996C>A c.(2995-2997)ACC>AAC p.T999N ANKRD32_uc003kks.2_Missense_Mutation_p.T363N NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348 NA 9 46 1.08611e-07 1.45347e-07 0.010729 1 0 MAN2A1 4124 broad.mit.edu 37 5 109026153 109026153 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:109026153G>T uc003kou.1 + 1 998 c.35G>T c.(34-36)AGT>ATT p.S12I MAN2A1_uc003kot.1_RNA NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 12 Helical; Signal-anchor for type II membrane protein; (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GTGTTCGGCAGTGCGATCTTC 0.582 NA 6 29 2.0095e-06 2.5099e-06 0.001984 1 0 SEMA6A 57556 broad.mit.edu 37 5 115813603 115813603 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:115813603C>T uc010jck.2 - 15 2297 c.1588G>A c.(1588-1590)GAC>AAC p.D530N SEMA6A_uc003krx.3_Missense_Mutation_p.D530N|SEMA6A_uc003krw.3_Missense_Mutation_p.D62N|SEMA6A_uc010jcj.2_Missense_Mutation_p.D74N NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 530 Extracellular (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CAATATGGGTCTCTGGAGGCA 0.502 NA 25 141 0 0 0.00632 0 0 FTMT 94033 broad.mit.edu 37 5 121188294 121188294 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:121188294G>T uc003kss.2 + 1 645 c.636G>T c.(634-636)GTG>GTT p.V212V NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 212 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GTGACCACGTGCACAACTTAG 0.493 NA 29 175 6.38683e-12 1.00207e-11 0.008361 1 0 SNCAIP 9627 broad.mit.edu 37 5 121786272 121786272 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:121786272C>A uc003ksw.1 + 10 1936 c.1730C>A c.(1729-1731)CCA>CAA p.P577Q SNCAIP_uc011cwl.1_Missense_Mutation_p.P135Q|SNCAIP_uc003ksx.1_Missense_Mutation_p.P624Q|SNCAIP_uc003ksy.1_Missense_Mutation_p.P211Q|SNCAIP_uc003ksz.1_Missense_Mutation_p.P211Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.P173Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.P211Q|SNCAIP_uc003kta.1_Missense_Mutation_p.P209Q|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.P271Q|SNCAIP_uc010jcx.1_Missense_Mutation_p.P517Q|uc003ktb.1_RNA|SNCAIP_uc003ktc.1_Missense_Mutation_p.P93Q NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 577 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding p.P577P(1) ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TGGAAATCTCCAGATGCAGAT 0.483 NA 29 127 5.77227e-19 1.04756e-18 0.008361 1 0 FBN2 2201 broad.mit.edu 37 5 127595228 127595228 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:127595228C>A uc003kuu.2 - 65 9097 c.8658G>T c.(8656-8658)CTG>CTT p.L2886L NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2886 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGCTCTCTTCCAGTTTCTTAA 0.507 NA 25 131 1.10923e-09 1.60952e-09 0.00278 1 0 SLC27A6 28965 broad.mit.edu 37 5 128362849 128362849 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:128362849C>A uc003kuy.2 + 8 1675 c.1279C>A c.(1279-1281)CGA>AGA p.R427R SLC27A6_uc003kuz.2_Silent_p.R427R NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 427 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TCTCATTTCTCGAGTGAATGC 0.368 NA 11 63 3.86212e-05 4.47304e-05 0.008291 1 0 TGFBI 7045 broad.mit.edu 37 5 135383018 135383018 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:135383018G>C uc003lbf.3 + 6 841 c.680G>C c.(679-681)GGG>GCG p.G227A TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.G53A|TGFBI_uc011cyb.1_Missense_Mutation_p.G53A|TGFBI_uc010jed.2_5'Flank NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 227 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAACCAACGGGGTGGTGCAC 0.537 NA 28 186 0 0 0.007291 0 0 IK 3550 broad.mit.edu 37 5 140038606 140038606 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140038606G>T uc003lgq.2 + 12 1143 c.1033G>T c.(1033-1035)GAG>TAG p.E345* NM_006083 NP_006074 Q13123 RED_HUMAN RED protein 345 2.|17 X 2 AA tandem repeats of R-[ED]. cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tcgggaacgggagcgtgatcg 0.149 NA 12 58 1.61879e-10 2.41492e-10 0.013537 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176297 140176297 + Nonsense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140176297G>A uc003lhd.2 + 1 1854 c.1748G>A c.(1747-1749)TGG>TAG p.W583* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Nonsense_Mutation_p.W583*|PCDHA2_uc011czy.1_Nonsense_Mutation_p.W583* NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 583 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGCCGTGGTCGGTGGGT 0.662 NA 15 120 0 0 0.00245 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202930 140202930 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140202930C>T uc003lhl.2 + 1 1570 c.1570C>T c.(1570-1572)CAC>TAC p.H524Y PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.H524Y|PCDHA5_uc003lhj.1_Missense_Mutation_p.H524Y NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 524 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCTGGACCACGAGGAAGT 0.692 NA 30 150 0 0 0.009535 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474443 140474443 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140474443G>T uc003lil.2 + 1 207 c.69G>T c.(67-69)CTG>CTT p.L23L PCDHB2_uc003lim.1_Intron NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 23 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTTTTGCTGGGCATAGCTC 0.537 NA 9 72 1.76689e-08 2.45209e-08 0.006214 1 0 PCDHB3 56132 broad.mit.edu 37 5 140481091 140481091 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140481091A>T uc003lio.2 + 1 858 c.858A>T c.(856-858)GAA>GAT p.E286D uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 286 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGCTTCTGAAGAAATTCGCA 0.363 NA 14 73 0 0 0.00245 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503916 140503916 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140503916G>T uc003lip.1 + 1 2336 c.2336G>T c.(2335-2337)GGG>GTG p.G779V NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 779 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGACACCGGGAGGGAAGTT 0.448 NA 18 94 5.03518e-11 7.67323e-11 0.007413 1 0 PCDHB6 56130 broad.mit.edu 37 5 140531365 140531365 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140531365C>T uc003lir.2 + 1 1527 c.1527C>T c.(1525-1527)GGC>GGT p.G509G PCDHB6_uc011dah.1_Silent_p.G373G NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 509 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGACAACGGCCACCTGTTTG 0.672 NA 36 198 0 0 0.005524 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558989 140558989 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140558989C>A uc011dai.1 + 1 1560 c.1374C>A c.(1372-1374)ACC>ACA p.T458T PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 458 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCTACACCCTGTTCGTCC 0.612 NA 31 227 3.76114e-14 6.25547e-14 0.004289 1 0 PCDHB10 56126 broad.mit.edu 37 5 140574002 140574002 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140574002C>T uc003lix.2 + 1 2051 c.1877C>T c.(1876-1878)ACC>ATC p.T626I NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 626 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGTGCGCACCGCCAGGCTG 0.692 NA 15 72 0 0 0.00333 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574378 140574378 + Nonsense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140574378C>A uc003lix.2 + 1 2427 c.2253C>A c.(2251-2253)TAC>TAA p.Y751* NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 751 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAGAGCTACCAGTATGAGG 0.622 NA 24 183 9.95505e-16 1.71853e-15 0.014323 1 0 PCDHB14 56122 broad.mit.edu 37 5 140603152 140603152 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140603152G>A uc003ljb.2 + 1 75 c.75G>A c.(73-75)CGG>CGA p.R25R PCDHB14_uc011dal.1_Intron NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 25 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATTGTCTCGGGCAGGTACTG 0.498 Ovarian(141;50 1831 27899 33809 37648) NA 11 42 0 0 0.008291 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723667 140723667 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140723667C>T uc003ljm.1 + 1 67 c.67C>T c.(67-69)CTG>TTG p.L23L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.L23L NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 23 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGGGACGCTGTGCGAAAC 0.557 NA OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 220 0 0 0.009718 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725254 140725254 + Missense_Mutation SNP G G T rs2879227 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140725254G>T uc003ljm.1 + 1 1654 c.1654G>T c.(1654-1656)GTG>TTG p.V552L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.V312L|PCDHGA3_uc011dap.1_Missense_Mutation_p.V552L NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 552 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACCTGTTCGTGCTGGACCA 0.617 NA 55 223 1.10885e-35 2.12113e-35 0.01441 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725835 140725835 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140725835G>T uc003ljm.1 + 1 2235 c.2235G>T c.(2233-2235)GGG>GGT p.G745G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.G505G|PCDHGA3_uc011dap.1_Silent_p.G745G NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 745 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGACGGGGTTCGGGCTT 0.667 NA 16 127 3.41278e-10 5.05568e-10 0.00499 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140732157 140732157 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140732157T>A uc003ljo.1 + 1 2330 c.2330T>A c.(2329-2331)CTG>CAG p.L777Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.L777Q|PCDHGA4_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 777 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGATCTGCTGTGTGATGAT 0.433 NA 8 32 0 0 0.00308 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801052 140801052 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:140801052C>G uc003lkq.1 + 1 516 c.258C>G c.(256-258)ATC>ATG p.I86M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.I86M|PCDHGA11_uc003lkp.1_Missense_Mutation_p.I86M NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 86 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCTTGATCACGGCAGGCA 0.572 NA 18 74 0 0 0.010504 0 0 PCDH1 5097 broad.mit.edu 37 5 141243248 141243248 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:141243248T>C uc003llq.2 - 3 2765 c.2648A>G c.(2647-2649)AAA>AGA p.K883R PCDH1_uc003llp.2_Missense_Mutation_p.K883R|PCDH1_uc011dbf.1_Missense_Mutation_p.K861R NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 883 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GTAACCACTTTTGGCCTCCCG 0.582 Ovarian(132;1609 1739 4190 14731 45037) NA 58 244 0 0 0.01441 0 0 ADRB2 154 broad.mit.edu 37 5 148206928 148206928 + Missense_Mutation SNP C C A rs147102529 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:148206928C>A uc003lpr.1 + 1 773 c.534C>A c.(532-534)CAC>CAA p.H178Q SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 178 Extracellular. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) GGGCCACCCACCAGGAAGCCA 0.532 NA 24 176 5.45024e-15 9.20903e-15 0.00333 1 0 SH3TC2 79628 broad.mit.edu 37 5 148420208 148420208 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:148420208C>A uc003lpu.2 - 7 916 c.764G>T c.(763-765)GGC>GTC p.G255V SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.G248V|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.G140V NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 255 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGAAAGGCCACAGCTTCC 0.418 NA 16 57 1.67942e-08 2.35118e-08 0.006122 1 0 FAT2 2196 broad.mit.edu 37 5 150945590 150945590 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:150945590G>T uc003lue.3 - 1 2916 c.2903C>A c.(2902-2904)GCC>GAC p.A968D GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.A968D NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 968 Extracellular (Potential).|Cadherin 8. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTCCCATGGGCGCCATCCAT 0.607 NA 10 59 0.000673444 0.000748663 0.008291 1 0 FAT2 2196 broad.mit.edu 37 5 150946786 150946786 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:150946786A>G uc003lue.3 - 1 1720 c.1707T>C c.(1705-1707)TGT>TGC p.C569C GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.C569C NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 569 Extracellular (Potential).|Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAGACCCTGTACAGTTGACTT 0.458 NA 10 93 0 0 0.006214 0 0 MRPL22 29093 broad.mit.edu 37 5 154320679 154320679 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:154320679G>T uc003lvy.3 + 1 47 c.9G>T c.(7-9)GCG>GCT p.A3A GEMIN5_uc003lvx.3_5'Flank|GEMIN5_uc011ddk.1_5'Flank|MRPL22_uc003lvz.3_5'UTR NM_014180 NP_054899 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 isoform a 3 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGATGGCGGCGGCAGTACTGG 0.562 NA 22 115 3.5997e-14 6.00264e-14 0.014323 1 0 THG1L 54974 broad.mit.edu 37 5 157158616 157158616 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:157158616G>A uc003lxd.2 + 1 294 c.168G>A c.(166-168)CGG>CGA p.R56R THG1L_uc011ddu.1_5'UTR NM_017872 NP_060342 Q9NWX6 THG1_HUMAN interphase cytoplasmic foci protein 45 56 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGTAGTGCGGCTGGACGGCC 0.622 NA 29 165 0 0 0.008361 0 0 GABRA6 2559 broad.mit.edu 37 5 161128728 161128728 + Nonsense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:161128728G>A uc003lyu.2 + 9 1649 c.1311G>A c.(1309-1311)TGG>TGA p.W437* GABRA6_uc003lyv.2_Nonsense_Mutation_p.W208* NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 437 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTGTGTACTGGGTAGTTTATC 0.443 NA TCGA Ovarian(5;0.080) 12 55 0 0 0.013537 0 0 GABRG2 2566 broad.mit.edu 37 5 161580240 161580240 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:161580240T>A uc003lyz.3 + 9 1628 c.1270T>A c.(1270-1272)TGT>AGT p.C424S GABRG2_uc010jjc.2_Missense_Mutation_p.C472S|GABRG2_uc003lyy.3_Missense_Mutation_p.C432S|GABRG2_uc011dej.1_Missense_Mutation_p.C329S NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 424 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TTTTGAAGATTGTCGAACAGG 0.463 NA 19 121 0 0 0.006122 0 0 MGAT4B 11282 broad.mit.edu 37 5 179227513 179227513 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:179227513C>G uc003mks.2 - 6 1059 c.690G>C c.(688-690)GAG>GAC p.E230D MGAT4B_uc003mkp.2_Missense_Mutation_p.E85D|MGAT4B_uc003mkq.2_Missense_Mutation_p.E85D|MGAT4B_uc003mkr.2_Missense_Mutation_p.E245D|MIR1229_hsa-mir-1229|MI0006319_5'Flank NM_014275 NP_055090 Q9UQ53 MGT4B_HUMAN alpha-1,3-mannosyl-glycoprotein 230 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding 0 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCAAAGGACTCTCGGAGGC 0.602 GBM(13;414 434 4098 22176 23230) NA 4 17 0 0 0.009096 0 0 MGAT4B 11282 broad.mit.edu 37 5 179227594 179227594 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr5:179227594G>T uc003mks.2 - 6 978 c.609C>A c.(607-609)TTC>TTA p.F203L MGAT4B_uc003mkp.2_Missense_Mutation_p.F58L|MGAT4B_uc003mkq.2_Missense_Mutation_p.F58L|MGAT4B_uc003mkr.2_Missense_Mutation_p.F218L|MIR1229_hsa-mir-1229|MI0006319_5'Flank NM_014275 NP_055090 Q9UQ53 MGT4B_HUMAN alpha-1,3-mannosyl-glycoprotein 203 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding 0 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCCGTGGGGAACCTGGGGG 0.647 GBM(13;414 434 4098 22176 23230) NA 4 29 1.23904e-05 1.47252e-05 0.000602 1 0 CDYL 9425 broad.mit.edu 37 6 4892523 4892523 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:4892523G>T uc003mwi.2 + 4 894 c.763G>T c.(763-765)GGG>TGG p.G255W CDYL_uc003mwj.2_Missense_Mutation_p.G201W|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.G69W|CDYL_uc011dhy.1_Missense_Mutation_p.G69W NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 255 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) GGCCAGGATGGGGAGCAGGCC 0.642 NA 13 56 5.50884e-06 6.65869e-06 0.013537 1 0 HLA-H 3136 broad.mit.edu 37 6 29855800 29855800 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:29855800T>A uc010jro.2 + 2 89 c.37T>A c.(37-39)TCC>ACC p.S13T HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H; 0 CCGCTTCATCTCCGTCGGCTA 0.692 NA 3 24 0 0 0.001984 0 0 USP49 25862 broad.mit.edu 37 6 41773944 41773944 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:41773944T>A uc003ori.2 - 4 1000 c.778A>T c.(778-780)AAC>TAC p.N260Y NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 260 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TAGCAGGTGTTGCCCAGGTTG 0.582 NA 7 78 0 0 0.001984 0 0 PRPH2 5961 broad.mit.edu 37 6 42672193 42672193 + Nonsense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:42672193C>T uc003osk.2 - 2 1024 c.738G>A c.(736-738)TGG>TGA p.W246* NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 246 Lumenal (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) AGCCACGCACCCACAGGTTGA 0.587 NA 4 41 0 0 0.009096 0 0 CUL7 9820 broad.mit.edu 37 6 43020329 43020329 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:43020329C>A uc003otq.2 - 2 501 c.198G>T c.(196-198)CTG>CTT p.L66L CUL7_uc011dvb.1_Silent_p.L118L|CUL7_uc010jyh.2_Missense_Mutation_p.C35F|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 66 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) ACATCCACAGCAGGATGTGCT 0.617 NA 11 107 0.000978159 0.00108552 0.010729 1 0 SPATS1 221409 broad.mit.edu 37 6 44310868 44310868 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:44310868G>A uc003oxk.2 + 1 383 c.36G>A c.(34-36)CGG>CGA p.R12R SPATS1_uc003oxg.2_Intron|SPATS1_uc010jzb.2_5'UTR NM_145026 NP_659463 Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 12 skin(1) 1 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACAGTCCACGGGGCTGCCGTC 0.517 NA 9 44 0 0 0.006214 0 0 RHAG 6005 broad.mit.edu 37 6 49580220 49580220 + Nonsense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:49580220C>A uc003ozk.3 - 6 897 c.835G>T c.(835-837)GGA>TGA p.G279* RHAG_uc010jzl.2_Nonsense_Mutation_p.G279*|RHAG_uc010jzm.2_Nonsense_Mutation_p.G279* NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 279 Helical; (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) GCAACTCCTCCAGCAAGGGTG 0.468 Ovarian(176;476 2003 7720 43408 44749) NA 10 37 1.08611e-07 1.45347e-07 0.010729 1 0 GCLC 2729 broad.mit.edu 37 6 53385617 53385617 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:53385617T>C uc003pbw.1 - 3 793 c.405A>G c.(403-405)TTA>TTG p.L135L GCLC_uc003pbx.2_Silent_p.L135L NM_001498 NP_001489 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 135 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) GATTTTCTTCTAATATAGAAG 0.443 NA 15 173 0 0 0.003163 0 0 GFRAL 389400 broad.mit.edu 37 6 55198661 55198661 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:55198661C>G uc003pcm.1 + 3 321 c.235C>G c.(235-237)CAA>GAA p.Q79E NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 79 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAGCAATTTCCAATTTAAAGA 0.348 NA 23 91 0 0 0.014323 0 0 RIMS1 22999 broad.mit.edu 37 6 72960115 72960115 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:72960115G>A uc003pga.2 + 13 2401 c.2324G>A c.(2323-2325)GGA>GAA p.G775E RIMS1_uc011dyb.1_Missense_Mutation_p.G401E|RIMS1_uc003pgc.2_Missense_Mutation_p.G401E|RIMS1_uc010kaq.2_Missense_Mutation_p.G249E|RIMS1_uc011dyc.1_Missense_Mutation_p.G249E|RIMS1_uc010kar.2_Missense_Mutation_p.G168E|RIMS1_uc011dyd.1_Missense_Mutation_p.G234E|RIMS1_uc003pgf.2_5'UTR|RIMS1_uc003pgg.2_5'UTR|RIMS1_uc003pgi.2_5'UTR|RIMS1_uc003pgh.2_5'UTR|RIMS1_uc003pgd.2_5'UTR|RIMS1_uc003pge.2_5'UTR|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.G401E|RIMS1_uc010kas.1_Missense_Mutation_p.G234E NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 775 C2 1. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGAGTAGATGGACGTCCTCGA 0.348 NA 4 18 0 0 0.009096 0 0 COL12A1 1303 broad.mit.edu 37 6 75840577 75840577 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:75840577C>A uc003phs.2 - 36 6224 c.6058G>T c.(6058-6060)GGC>TGC p.G2020C COL12A1_uc003pht.2_Missense_Mutation_p.G856C NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2020 Fibronectin type-III 15. 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 CGCGTTCGGCCCTGGGCAGGG 0.567 NA 12 46 0.00010058 0.00011441 0.013537 1 0 MRAP2 112609 broad.mit.edu 37 6 84799141 84799141 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:84799141C>A uc003pkg.3 + 4 749 c.559C>A c.(559-561)CCA>ACA p.P187T MRAP2_uc010kbo.2_Missense_Mutation_p.P101T NM_138409 NP_612418 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 187 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding skin(2) 2 GATTTCTGAACCACCTATTGT 0.463 NA 9 53 3.86212e-05 4.47304e-05 0.008291 1 0 TBX18 9096 broad.mit.edu 37 6 85447051 85447051 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:85447051G>A uc003pkl.1 - 8 1176 c.1176C>T c.(1174-1176)GGC>GGT p.G392G TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 392 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AGCAAGAGGAGCCAGACAAAA 0.552 NA 10 57 0 0 0.010729 0 0 LAMA4 3910 broad.mit.edu 37 6 112457342 112457342 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:112457342C>G uc003pvu.2 - 25 3706 c.3397G>C c.(3397-3399)GAT>CAT p.D1133H LAMA4_uc003pvv.2_Missense_Mutation_p.D1126H|LAMA4_uc003pvt.2_Missense_Mutation_p.D1126H NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1133 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TATTTTGCATCATTAATTTGA 0.368 NA 6 26 0 0 0.001984 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121757 117121757 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:117121757C>T uc003pxj.1 - 4 1560 c.1538G>A c.(1537-1539)AGG>AAG p.R513K GPRC6A_uc003pxk.1_Missense_Mutation_p.R338K|GPRC6A_uc003pxl.1_Intron NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 513 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CTTAAGATTCCTGAACTCATT 0.308 NA 14 45 0 0 0.00245 0 0 VNN2 8875 broad.mit.edu 37 6 133072284 133072284 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:133072284C>A uc003qdt.2 - 5 1211 c.1200G>T c.(1198-1200)CAG>CAT p.Q400H VNN2_uc003qds.2_Missense_Mutation_p.Q109H|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.Q347H NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 400 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CTGAAATTACCTGCCAGTACT 0.373 NA 14 74 1.49906e-05 1.77162e-05 0.00245 1 0 KIAA1244 57221 broad.mit.edu 37 6 138628520 138628520 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:138628520G>T uc003qhu.2 + 23 3959 c.3959G>T c.(3958-3960)GGT>GTT p.G1320V NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1320 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TACCTGGTTGGTGACTACTCC 0.433 NA 13 93 4.36969e-10 6.41358e-10 0.001855 1 0 FUCA2 2519 broad.mit.edu 37 6 143823540 143823540 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:143823540C>G uc003qjm.2 - 4 1007 c.915G>C c.(913-915)AGG>AGC p.R305S FUCA2_uc003qjn.2_Missense_Mutation_p.R59S NM_032020 NP_114409 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma precursor 305 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CAGCTTCCCTCCTATAGCCCC 0.408 NA 8 190 0 0 0.006214 0 0 STXBP5 134957 broad.mit.edu 37 6 147704039 147704039 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:147704039G>T uc003qlz.2 + 27 3480 c.3319G>T c.(3319-3321)GCA>TCA p.A1107S STXBP5_uc010khz.1_Missense_Mutation_p.A1071S|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.A762S NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 1107 v-SNARE coiled-coil homology. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) AGCCAGGCTGGCACTAGATGA 0.498 NA 18 123 9.16793e-09 1.29777e-08 0.00499 1 0 UST 10090 broad.mit.edu 37 6 149340286 149340286 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:149340286G>T uc003qmg.2 + 6 989 c.693G>T c.(691-693)GAG>GAT p.E231D NM_005715 NP_005706 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 231 Lumenal (Potential). protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) ATATCAATGAGTGTATTCTTG 0.408 NA 10 72 2.17888e-05 2.55607e-05 0.006214 1 0 SYNE1 23345 broad.mit.edu 37 6 152737815 152737815 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:152737815T>C uc010kiw.2 - 41 6359 c.5757A>G c.(5755-5757)TTA>TTG p.L1919L SYNE1_uc003qot.3_Silent_p.L1926L|SYNE1_uc003qou.3_Silent_p.L1919L|SYNE1_uc010kjb.1_Silent_p.L1902L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1919 Cytoplasmic (Potential).|Potential. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGCAGATTCTAATGCTTTAG 0.458 NA HNSCC(10;0.0054) 13 76 0 0 0.013537 0 0 MYCT1 80177 broad.mit.edu 37 6 153043182 153043182 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:153043182C>A uc003qpd.3 + 2 510 c.502C>A c.(502-504)CAT>AAT p.H168N MYCT1_uc010kjc.1_Missense_Mutation_p.H120N|MYCT1_uc003qpc.3_Missense_Mutation_p.H168N NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 168 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TTCTACTTTCCATCCCTTTCT 0.493 NA 15 82 2.61681e-11 4.01665e-11 0.00245 1 0 ARID1B 57492 broad.mit.edu 37 6 157527447 157527447 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:157527447G>T uc003qqn.2 + 20 5270 c.5118G>T c.(5116-5118)TTG>TTT p.L1706F ARID1B_uc003qqo.2_Missense_Mutation_p.L1666F|ARID1B_uc003qqp.2_Missense_Mutation_p.L1653F NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1711 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GCCAGTCCTTGGCAGACGATT 0.478 NA 42 273 2.13384e-23 3.95132e-23 0.01441 1 0 ARID1B 57492 broad.mit.edu 37 6 157528318 157528318 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:157528318G>T uc003qqn.2 + 20 6141 c.5989G>T c.(5989-5991)GAC>TAC p.D1997Y ARID1B_uc003qqo.2_Missense_Mutation_p.D1957Y|ARID1B_uc003qqp.2_Missense_Mutation_p.D1944Y NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2002 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTGGTGGTGGGACTGCCTCGA 0.547 NA 19 126 1.01871e-10 1.53409e-10 0.008871 1 0 IGF2R 3482 broad.mit.edu 37 6 160468236 160468236 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:160468236A>G uc003qta.2 + 16 2245 c.2097A>G c.(2095-2097)TCA>TCG p.S699S NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 699 5.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CGAAGCTTTCATATTATGATG 0.458 NA 11 58 0 0 0.008291 0 0 C6orf118 168090 broad.mit.edu 37 6 165715274 165715274 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:165715274C>A uc003qum.3 - 2 573 c.537G>T c.(535-537)CTG>CTT p.L179L C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 179 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TCAAGTCGGGCAGCCGGAGTT 0.647 NA 22 69 1.96292e-10 2.92145e-10 0.010504 1 0 TCP10L2 401285 broad.mit.edu 37 6 167595301 167595301 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:167595301G>A uc010kkp.2 + 8 1090 c.959G>A c.(958-960)CGA>CAA p.R320Q NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 320 0 GAAGAAAAACGACATCCAAAT 0.527 NA 5 42 0 0 0.000602 0 0 FRMD1 79981 broad.mit.edu 37 6 168479740 168479740 + Missense_Mutation SNP G G T rs147876520 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:168479740G>T uc003qwo.3 - 1 100 c.35C>A c.(34-36)CCC>CAC p.P12H NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 12 cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TGTCCGGGCGGGGTCTATGCC 0.662 GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015) NA 13 49 2.27111e-07 2.99523e-07 0.013537 1 0 SUN1 23353 broad.mit.edu 37 7 909028 909028 + Nonsense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:909028C>T uc011jvp.1 + 18 2102 c.2023C>T c.(2023-2025)CAG>TAG p.Q675* GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Nonsense_Mutation_p.Q592*|SUN1_uc011jvq.1_Nonsense_Mutation_p.Q572*|SUN1_uc003sjg.2_Nonsense_Mutation_p.Q580*|SUN1_uc011jvr.1_Nonsense_Mutation_p.Q473*|SUN1_uc003sji.2_Nonsense_Mutation_p.Q513*|SUN1_uc003sjk.2_Nonsense_Mutation_p.Q314* NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 702 Perinuclear space.|SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 TAAAGGCTCCCAGGGGTACCT 0.547 NA 33 155 0 0 0.013726 0 0 DGKB 1607 broad.mit.edu 37 7 14724966 14724966 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:14724966G>T uc003ssz.2 - 9 920 c.733C>A c.(733-735)CAC>AAC p.H245N DGKB_uc011jxt.1_Missense_Mutation_p.H238N|DGKB_uc003sta.2_Missense_Mutation_p.H245N|DGKB_uc011jxu.1_Missense_Mutation_p.H245N|DGKB_uc011jxv.1_Missense_Mutation_p.H245N NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 245 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) CGCCACACGTGCTGTCCATCA 0.463 NA 11 63 2.80697e-09 4.01807e-09 0.010729 1 0 HOXA13 3209 broad.mit.edu 37 7 27238029 27238029 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:27238029A>T uc003szb.1 - 2 984 c.955T>A c.(955-957)TAT>AAT p.Y319N uc003szc.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN homeobox A13 319 skeletal system development nucleus sequence-specific DNA binding breast(1) 1 CCCCTCCTATAGGAGCTGGCA 0.517 NA T NUP98 AML OREG0003748 type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 101 0 0 0.006122 0 0 AMPH 273 broad.mit.edu 37 7 38433709 38433709 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:38433709C>T uc003tgu.2 - 18 1573 c.1504G>A c.(1504-1506)GGG>AGG p.G502R AMPH_uc003tgv.2_Missense_Mutation_p.G460R|AMPH_uc003tgt.2_Missense_Mutation_p.G387R|AMPH_uc003tgw.1_Missense_Mutation_p.G525R|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 502 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 ACTCCTTCCCCGGCAGGGACA 0.582 NA 27 147 0 0 0.007291 0 0 URGCP 55665 broad.mit.edu 37 7 43916860 43916860 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:43916860T>C uc003tiw.2 - 6 2259 c.2202A>G c.(2200-2202)ACA>ACG p.T734T URGCP_uc003tiu.2_Silent_p.T691T|URGCP_uc003tiv.2_Silent_p.T659T|URGCP_uc003tix.2_Silent_p.T725T|URGCP_uc003tiy.2_Silent_p.T691T|URGCP_uc003tiz.2_Silent_p.T691T|URGCP_uc011kbj.1_Silent_p.T691T NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 734 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CCTCAGCCACTGTGATGAGCT 0.612 NA 19 60 0 0 0.007413 0 0 URGCP 55665 broad.mit.edu 37 7 43917673 43917673 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:43917673G>T uc003tiw.2 - 6 1446 c.1389C>A c.(1387-1389)GAC>GAA p.D463E URGCP_uc003tiu.2_Missense_Mutation_p.D420E|URGCP_uc003tiv.2_Missense_Mutation_p.D388E|URGCP_uc003tix.2_Missense_Mutation_p.D454E|URGCP_uc003tiy.2_Missense_Mutation_p.D420E|URGCP_uc003tiz.2_Missense_Mutation_p.D420E|URGCP_uc011kbj.1_Missense_Mutation_p.D420E NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 463 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CACAGTCCTCGTCGACCTTTA 0.592 NA 35 149 2.49991e-28 4.69748e-28 0.003271 1 0 CDC14C 168448 broad.mit.edu 37 7 48964880 48964880 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:48964880C>A uc010kyv.1 + 1 724 c.612C>A c.(610-612)GCC>GCA p.A204A NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 ATTCAAGAGCCAGACTTGAAA 0.353 NA 10 30 3.07112e-06 3.81345e-06 0.010729 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + Missense_Mutation SNP T T C rs147293416 by1000genomes TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:72658179T>C uc003txs.1 - 13 1733 c.805A>G c.(805-807)AAA>GAA p.K269E FKBP6_uc003twz.2_Intron NR_002164 RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta; 0 cagagtgatttcggatgaatt 0 NA 5 62 0 0 0.00308 0 0 YWHAG 7532 broad.mit.edu 37 7 75959153 75959153 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:75959153T>A uc011kgj.1 - 2 702 c.485A>T c.(484-486)AAA>ATA p.K162I NM_012479 NP_036611 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 162 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity ovary(1)|lung(1) 2 CATGTGCTCTTTGCTGATCTC 0.587 NA 42 186 0 0 0.011902 0 0 DTX2 113878 broad.mit.edu 37 7 76111844 76111844 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:76111844G>A uc003uff.3 + 5 844 c.288G>A c.(286-288)CGG>CGA p.R96R DTX2_uc011kgk.1_Silent_p.R5R|DTX2_uc003ufg.3_Silent_p.R96R|DTX2_uc003ufh.3_Silent_p.R96R|DTX2_uc003ufj.3_Silent_p.R96R NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 96 WWE 1. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 GGGCTGTGCGGAGACACCTGT 0.552 NA 20 90 0 0 0.008871 0 0 PCLO 27445 broad.mit.edu 37 7 82545660 82545660 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:82545660G>C uc003uhx.2 - 7 11931 c.11642C>G c.(11641-11643)CCG>CGG p.P3881R PCLO_uc003uhv.2_Missense_Mutation_p.P3881R|PCLO_uc010lec.2_Missense_Mutation_p.P846R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3812 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGGACTTGTCGGAGGAACTAG 0.463 NA 61 386 0 0 0.01441 0 0 DMTF1 9988 broad.mit.edu 37 7 86824364 86824364 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:86824364C>A uc003uih.2 + 18 2517 c.2191C>A c.(2191-2193)CAT>AAT p.H731N DMTF1_uc003uii.2_Missense_Mutation_p.H465N|DMTF1_uc003uij.2_Missense_Mutation_p.H465N|DMTF1_uc011khb.1_Missense_Mutation_p.H643N|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.H731N|DMTF1_uc003uin.2_Missense_Mutation_p.H465N NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 731 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) ACTCCAACATCATCAGGAAGA 0.338 NA 7 58 8.12818e-05 9.31233e-05 0.001984 1 0 BUD31 8896 broad.mit.edu 37 7 99015095 99015095 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:99015095C>G uc003uqf.2 + 5 462 c.261C>G c.(259-261)AAC>AAG p.N87K BUD31_uc011kiu.1_Missense_Mutation_p.N87K|BUD31_uc011kiv.1_Missense_Mutation_p.N87K|BUD31_uc003uqg.3_Missense_Mutation_p.N87K NM_003910 NP_003901 P41223 BUD31_HUMAN G10 protein 87 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CAGACAAAAACCTGATTGCAA 0.463 NA 6 36 0 0 0.001168 0 0 PTCD1 26024 broad.mit.edu 37 7 99030992 99030992 + Missense_Mutation SNP C C A rs10258918 byFrequency TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:99030992C>A uc003uqh.2 - 3 634 c.503G>T c.(502-504)CGA>CTA p.R168L PTCD1_uc011kiw.1_Missense_Mutation_p.R217L NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 168 PPR 1. ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GGGCTGCAATCGCTCCTCCTT 0.567 NA 28 143 2.12542e-12 3.38472e-12 0.00632 1 0 TRIM56 81844 broad.mit.edu 37 7 100732499 100732499 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:100732499G>T uc003uxq.2 + 3 2137 c.1906G>T c.(1906-1908)GCG>TCG p.A636S TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 636 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) GGGCCTGCGGGCGCTGGTGTT 0.647 Ovarian(89;1092 1379 22756 38989 39611) NA 26 118 5.45024e-15 9.20903e-15 0.00333 1 0 RELN 5649 broad.mit.edu 37 7 103151413 103151413 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:103151413T>A uc003vca.2 - 51 8319 c.8159A>T c.(8158-8160)GAA>GTA p.E2720V RELN_uc010liz.2_Missense_Mutation_p.E2720V NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2720 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) ACAGAATCTTTCTACTGTACA 0.413 NSCLC(146;835 1944 15585 22231 52158) NA 7 18 0 0 0.00308 0 0 GPR85 54329 broad.mit.edu 37 7 112724029 112724029 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:112724029C>A uc010ljv.2 - 2 1265 c.748G>T c.(748-750)GGT>TGT p.G250C GPR85_uc003vgp.1_Missense_Mutation_p.G250C|GPR85_uc003vgq.2_Missense_Mutation_p.G250C|GPR85_uc010ljw.1_Missense_Mutation_p.G250C NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 250 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 GGTGTGGGACCCCTTCCAAAT 0.522 NA 37 167 3.93418e-24 7.30634e-24 0.004289 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113558946 113558946 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:113558946C>A uc010ljy.1 - 1 137 c.106G>T c.(106-108)GGT>TGT p.G36C NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 36 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GGGGAGAAACCAGGTTGGAAA 0.388 NA 13 86 3.27435e-08 4.48551e-08 0.00245 1 0 KCND2 3751 broad.mit.edu 37 7 119915431 119915431 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:119915431G>T uc003vjj.1 + 1 1710 c.745G>T c.(745-747)GCT>TCT p.A249S NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 249 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) GCTTCGCCTGGCTGCAGCGCC 0.517 NA 13 64 5.50884e-06 6.65869e-06 0.013537 1 0 GRM8 2918 broad.mit.edu 37 7 126086184 126086184 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:126086184G>T uc003vlr.2 - 9 2984 c.2673C>A c.(2671-2673)ACC>ACA p.T891T GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.T891T|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 891 Cytoplasmic (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) ACTTACTGTTGGTTTCAAGAC 0.453 NA HNSCC(24;0.065) 30 151 5.90632e-09 8.39805e-09 0.012213 1 0 PLXNA4 91584 broad.mit.edu 37 7 132192798 132192798 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:132192798G>T uc003vra.3 - 2 884 c.655C>A c.(655-657)CAT>AAT p.H219N PLXNA4_uc003vrc.2_Missense_Mutation_p.H219N|PLXNA4_uc003vrb.2_Missense_Mutation_p.H219N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 219 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 AACTCATCATGGAAGACGTAC 0.507 NA 17 118 6.49762e-13 1.0452e-12 0.006122 1 0 EPHB6 2051 broad.mit.edu 37 7 142561931 142561931 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:142561931C>A uc011kst.1 + 7 1160 c.373C>A c.(373-375)CGG>AGG p.R125R EPHB6_uc011ksu.1_Silent_p.R125R|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 125 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CGGCACCTGCCGGGAGACCTT 0.637 NA 35 131 7.11191e-15 1.19533e-14 0.013726 1 0 OR6V1 346517 broad.mit.edu 37 7 142750269 142750269 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:142750269G>A uc011ksv.1 + 1 832 c.832G>A c.(832-834)GTT>ATT p.V278I NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) GGTGACTTCAGTTCTCACCCC 0.493 NA 13 61 0 0 0.013537 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141079 143141079 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:143141079G>T uc011ktg.1 + 1 534 c.534G>T c.(532-534)TGG>TGT p.W178C uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 178 Extracellular (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TACAACCTTGGAATGTCACTG 0.413 NA 27 158 5.61819e-17 9.91353e-17 0.005443 1 0 OR6B1 135946 broad.mit.edu 37 7 143701858 143701858 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:143701858T>C uc003wdt.1 + 1 769 c.769T>C c.(769-771)TAT>CAT p.Y257H NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 257 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) TATTTTCATGTATGCTCGACC 0.423 NA 13 123 0 0 0.013537 0 0 ATG9B 285973 broad.mit.edu 37 7 150715032 150715032 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:150715032T>C uc011kvc.1 - 8 2054 c.1978A>G c.(1978-1980)ACT>GCT p.T660A ATG9B_uc003wig.3_RNA NM_173681 NP_775952 Q674R7 ATG9B_HUMAN ATG9 autophagy related 9 homolog B 660 Cytoplasmic (By similarity). autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane ovary(1) 1 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACATCCACAGTGAAGTGATGA 0.592 NA OREG0018444 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 0 0 0.009096 0 0 GALNTL5 168391 broad.mit.edu 37 7 151716812 151716812 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:151716812C>A uc003wkp.2 + 9 1481 c.1258C>A c.(1258-1260)CTG>ATG p.L420M GALNTL5_uc003wkq.2_Missense_Mutation_p.L171M|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.L309M NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 420 Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) AAGGAAACGACTGGGTTGCAA 0.398 NA 15 48 2.31682e-05 2.70792e-05 0.003163 1 0 MLL3 58508 broad.mit.edu 37 7 151970805 151970805 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:151970805G>T uc003wla.2 - 7 1216 c.997C>A c.(997-999)CAA>AAA p.Q333K NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 333 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCAGGAGCTTGGTCAATGTGT 0.383 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 8 202 0.00307968 0.00334771 0.00308 1 0 RBM33 155435 broad.mit.edu 37 7 155538132 155538132 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:155538132G>T uc010lqk.1 + 14 3183 c.2815G>T c.(2815-2817)GAG>TAG p.E939* RBM33_uc011kvv.1_Nonsense_Mutation_p.E748*|RBM33_uc003wmg.2_5'Flank NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 939 nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGCAGATGTGGAGGAGCCAGC 0.552 NA 7 28 2.0095e-06 2.5099e-06 0.001984 1 0 RP1L1 94137 broad.mit.edu 37 8 10466663 10466663 + Nonsense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:10466663C>A uc003wtc.2 - 4 5174 c.4945G>T c.(4945-4947)GAG>TAG p.E1649* NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1649 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCCGCCTCCTCGCCCAGCTGG 0.682 NA 9 30 3.09899e-07 4.07021e-07 0.004482 1 0 SLC18A1 6570 broad.mit.edu 37 8 20022571 20022571 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:20022571G>T uc011kyq.1 - 10 1377 c.906C>A c.(904-906)ATC>ATA p.I302I SLC18A1_uc003wzl.2_Silent_p.I89I|SLC18A1_uc003wzm.2_Silent_p.I302I|SLC18A1_uc011kyr.1_Silent_p.I302I|SLC18A1_uc003wzn.2_Silent_p.I302I|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Silent_p.I302I NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 302 Helical; (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) CAGCCACCAGGATGTAAGGGT 0.537 NA 19 68 3.99206e-14 6.60504e-14 0.007413 1 0 KCNU1 157855 broad.mit.edu 37 8 36698038 36698038 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:36698038C>T uc010lvw.2 + 15 1663 c.1576C>T c.(1576-1578)CTG>TTG p.L526L KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 526 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AAACAAAATTCTGACCCAACG 0.408 NA 5 18 0 0 0.000602 0 0 NPBWR1 2831 broad.mit.edu 37 8 53853025 53853025 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:53853025C>A uc011ldu.1 + 1 558 c.558C>A c.(556-558)CGC>CGA p.R186R NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 186 Extracellular (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) AGGGCCGGCGCCAGTGCGTGC 0.706 NA 4 14 0.00909568 0.00960854 0.009096 1 0 NCOA2 10499 broad.mit.edu 37 8 71068967 71068967 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:71068967C>A uc003xyn.1 - 11 1795 c.1633G>T c.(1633-1635)GGG>TGG p.G545W NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 545 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AATGAGACCCCGTGCCCCTCG 0.512 NA T RUNXBP2 AML 16 93 2.23348e-06 2.77877e-06 0.004007 1 0 CALB1 793 broad.mit.edu 37 8 91075512 91075512 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:91075512G>C uc003yel.1 - 8 725 c.543C>G c.(541-543)TTC>TTG p.F181L CALB1_uc011lge.1_Missense_Mutation_p.F124L NM_004929 NP_004920 P05937 CALB1_HUMAN calbindin 1 181 nucleus calcium ion binding|vitamin D binding pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.00953) TAAGTACCTGGAATTTAAGAA 0.284 Melanoma(46;573 1182 27367 39727 48386) NA 5 19 0 0 0.000602 0 0 CDH17 1015 broad.mit.edu 37 8 95178176 95178176 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:95178176A>T uc003ygh.2 - 10 1220 c.1095T>A c.(1093-1095)CAT>CAA p.H365Q CDH17_uc011lgo.1_Missense_Mutation_p.H151Q|CDH17_uc011lgp.1_Missense_Mutation_p.H365Q NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 365 Extracellular (Potential).|Cadherin 4. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CATCCCTGTCATGTGCAGTAA 0.408 NA 10 38 0 0 0.010729 0 0 VPS13B 157680 broad.mit.edu 37 8 100844858 100844858 + Missense_Mutation SNP C C T rs149842139 byFrequency TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:100844858C>T uc003yiv.2 + 52 9778 c.9667C>T c.(9667-9669)CGG>TGG p.R3223W VPS13B_uc003yiw.2_Missense_Mutation_p.R3198W NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3223 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CGGGAATTTCCGGGAAAATGG 0.468 Colon(161;2205 2542 7338 31318) NA 18 64 0 0 0.00499 0 0 RIMS2 9699 broad.mit.edu 37 8 105257206 105257206 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:105257206G>T uc003yls.2 + 24 3692 c.3451G>T c.(3451-3453)GAA>TAA p.E1151* RIMS2_uc003ylp.2_Nonsense_Mutation_p.E1133*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.E1140*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.E947*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.E972* NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1195 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) CCTGGCCGTGGAAATGAGGAA 0.463 NA HNSCC(12;0.0054) 33 127 1.99505e-19 3.65186e-19 0.012213 1 0 TM7SF4 81501 broad.mit.edu 37 8 105361085 105361085 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:105361085G>T uc003ylx.1 + 2 354 c.305G>T c.(304-306)GGC>GTC p.G102V NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 102 Helical; (Potential). osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATTGCAGCTGGCACAGGGATC 0.448 NA 13 56 2.68362e-12 4.2524e-12 0.013537 1 0 CSMD3 114788 broad.mit.edu 37 8 113402960 113402960 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:113402960G>T uc003ynu.2 - 36 6026 c.5867C>A c.(5866-5868)CCT>CAT p.P1956H CSMD3_uc003yns.2_Missense_Mutation_p.P1158H|CSMD3_uc003ynt.2_Missense_Mutation_p.P1916H|CSMD3_uc011lhx.1_Missense_Mutation_p.P1852H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1956 Extracellular (Potential).|CUB 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATAAGGCTCAGGGTATCCAGG 0.403 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 36 6.81908e-15 1.14914e-14 0.00245 1 0 CSMD3 114788 broad.mit.edu 37 8 113697783 113697783 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:113697783T>A uc003ynu.2 - 15 2493 c.2334A>T c.(2332-2334)AAA>AAT p.K778N CSMD3_uc003yns.2_Missense_Mutation_p.K50N|CSMD3_uc003ynt.2_Missense_Mutation_p.K738N|CSMD3_uc011lhx.1_Missense_Mutation_p.K674N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 778 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGTCACCATCTTTAACAGCAA 0.433 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 71 0 0 0.010504 0 0 TG 7038 broad.mit.edu 37 8 133935738 133935738 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:133935738G>T uc003ytw.2 + 22 4725 c.4684G>T c.(4684-4686)GAC>TAC p.D1562Y TG_uc010mdw.2_Missense_Mutation_p.D321Y|TG_uc011ljb.1_5'UTR|TG_uc003ytx.1_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1562 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCCTCTTGAGGACTCACAGTG 0.582 NA 13 42 4.36969e-10 6.41358e-10 0.001855 1 0 FAM135B 51059 broad.mit.edu 37 8 139144923 139144923 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:139144923G>A uc003yuy.2 - 20 4305 c.4134C>T c.(4132-4134)ATC>ATT p.I1378I FAM135B_uc003yux.2_Silent_p.I1279I|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1378 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGGCTCGGCCGATCAGGGTGT 0.537 NA HNSCC(54;0.14) 53 239 0 0 0.01441 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994787 143994787 + Silent SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:143994787C>G uc003yxk.1 - 6 1038 c.1035G>C c.(1033-1035)CTG>CTC p.L345L NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 345 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTGCGGCGGCCAGGCTCTCCT 0.637 NA Familial_Hyperaldosteronism_type_I 26 121 0 0 0.004656 0 0 ZNF34 80778 broad.mit.edu 37 8 145999678 145999678 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr8:145999678G>A uc003zdy.3 - 6 758 c.656C>T c.(655-657)TCA>TTA p.S219L ZNF34_uc010mgb.2_Missense_Mutation_p.S116L|ZNF34_uc003zdx.3_Missense_Mutation_p.S198L NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) TGTTTTTTTTGACCTGTGTAC 0.358 NA 8 30 0 0 0.00308 0 0 RANBP6 26953 broad.mit.edu 37 9 6015050 6015050 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:6015050G>A uc003zjr.2 - 1 569 c.558C>T c.(556-558)GAC>GAT p.D186D RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 186 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) GAATACACTGGTCCAACAACC 0.428 NA 14 51 0 0 0.001855 0 0 PTPRD 5789 broad.mit.edu 37 9 8492961 8492961 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:8492961G>T uc003zkk.2 - 26 3079 c.2368C>A c.(2368-2370)CTC>ATC p.L790I PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.L781I|PTPRD_uc003zkm.2_Missense_Mutation_p.L777I|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 790 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCAGGCTGGAGCCCAGAAATG 0.498 NA TSP Lung(15;0.13) 22 87 1.87028e-06 2.35915e-06 0.012319 1 0 ELAVL2 1993 broad.mit.edu 37 9 23701398 23701398 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:23701398G>T uc003zpu.2 - 5 967 c.692C>A c.(691-693)GCT>GAT p.A231D ELAVL2_uc003zps.2_Missense_Mutation_p.A231D|ELAVL2_uc003zpt.2_Missense_Mutation_p.A231D|ELAVL2_uc003zpv.2_Missense_Mutation_p.A231D|ELAVL2_uc003zpw.2_Missense_Mutation_p.A231D NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 231 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGCCTGCTGAGCTAGCGGTCC 0.443 NA 49 203 9.57592e-29 1.81543e-28 0.01441 1 0 ROR2 4920 broad.mit.edu 37 9 94486708 94486708 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:94486708G>T uc004arj.1 - 9 2267 c.2068C>A c.(2068-2070)CTG>ATG p.L690M ROR2_uc004ari.1_Missense_Mutation_p.L550M NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 690 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 TAGGGCTGCAGGCCGTAGCTG 0.617 NA 20 46 5.03518e-11 7.67323e-11 0.007413 1 0 COL15A1 1306 broad.mit.edu 37 9 101810113 101810113 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:101810113G>T uc004azb.1 + 27 2931 c.2725G>T c.(2725-2727)GGG>TGG p.G909W NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 909 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TGGCCTTCCCGGGCGACCTGT 0.542 NA 66 123 1.92745e-42 3.70932e-42 0.01441 1 0 OR1J4 26219 broad.mit.edu 37 9 125281713 125281713 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:125281713A>G uc011lyw.1 + 1 294 c.294A>G c.(292-294)GTA>GTG p.V98V NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAGGGTGTGTAACTCAGATGT 0.423 NA 55 120 0 0 0.01441 0 0 NR5A1 2516 broad.mit.edu 37 9 127255381 127255381 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:127255381C>T uc004boo.1 - 5 1105 c.918G>A c.(916-918)CTG>CTA p.L306L NM_004959 NP_004950 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 306 Important for dimerization.|Ligand-binding. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 GGTCGAACACCAGCAGCTCGC 0.692 NA 14 20 0 0 0.001855 0 0 COL5A1 1289 broad.mit.edu 37 9 137676928 137676928 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:137676928C>T uc004cfe.2 + 30 2960 c.2578C>T c.(2578-2580)CCC>TCC p.P860S NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 860 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCCTCTGGGACCCCCTGGGGA 0.657 NA 4 44 0 0 0.009096 0 0 CACNA1B 774 broad.mit.edu 37 9 140991002 140991002 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:140991002C>A uc004cog.2 + 36 5306 c.5161C>A c.(5161-5163)CTA>ATA p.L1721I CACNA1B_uc004coi.2_Missense_Mutation_p.L933I|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1721 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTCTTCCATCCTAGGTCCTCA 0.557 NA 26 58 3.28513e-13 5.33833e-13 0.003954 1 0 ARSF 416 broad.mit.edu 37 X 3002504 3002504 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:3002504C>A uc004cre.1 + 6 848 c.627C>A c.(625-627)AGC>AGA p.S209R ARSF_uc004crf.1_Missense_Mutation_p.S209R NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 209 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGAAGCTGAGCGGCTGGGTCT 0.517 NA 13 101 9.31168e-06 1.11705e-05 0.001855 1 0 MXRA5 25878 broad.mit.edu 37 X 3229391 3229391 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:3229391C>A uc004crg.3 - 7 7010 c.6853G>T c.(6853-6855)GTG>TTG p.V2285L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2285 Ig-like C2-type 7. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAGGAGTTCACCAGACTCCCG 0.567 NA 21 112 1.01871e-10 1.53409e-10 0.008871 1 0 MXRA5 25878 broad.mit.edu 37 X 3239278 3239278 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:3239278G>T uc004crg.3 - 5 4605 c.4448C>A c.(4447-4449)CCT>CAT p.P1483H NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1483 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGCAGCAGTAGGGGTGTGATT 0.512 NA 17 66 1.15088e-07 1.5337e-07 0.004007 1 0 NLGN4X 57502 broad.mit.edu 37 X 6069174 6069174 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:6069174G>C uc010ndh.2 - 2 835 c.334C>G c.(334-336)CAG>GAG p.Q112E NLGN4X_uc004crp.2_Missense_Mutation_p.Q112E|NLGN4X_uc004crq.2_Missense_Mutation_p.Q112E|NLGN4X_uc010ndi.2_Missense_Mutation_p.Q112E|NLGN4X_uc004crr.2_Missense_Mutation_p.Q112E|NLGN4X_uc010ndj.2_Missense_Mutation_p.Q112E NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 112 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCCAGGTGCTGGGGGCACACA 0.527 NA 25 106 0 0 0.003954 0 0 WWC3 55841 broad.mit.edu 37 X 10035347 10035347 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:10035347C>T uc004csx.3 + 3 235 c.37C>T c.(37-39)CCA>TCA p.P13S WWC3_uc010nds.2_5'UTR NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 13 ovary(4) 4 GATTGAGGATCCAAGAGAACA 0.388 NA 4 20 0 0 0.009096 0 0 WWC3 55841 broad.mit.edu 37 X 10096748 10096748 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:10096748G>T uc004csx.3 + 17 2630 c.2432G>T c.(2431-2433)CGG>CTG p.R811L WWC3_uc010nds.2_Missense_Mutation_p.R475L|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 811 Potential. ovary(4) 4 ATATCCGAGCGGTAAGGGCTA 0.647 NA 10 23 1.58986e-06 2.01341e-06 0.008291 1 0 FANCB 2187 broad.mit.edu 37 X 14861873 14861873 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:14861873G>A uc004cwg.1 - 10 2664 c.2396C>T c.(2395-2397)GCG>GTG p.A799V FANCB_uc004cwh.1_Missense_Mutation_p.A799V NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 799 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) TAAAGCAGCCGCGACGACACT 0.408 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 26 85 0 0 0.00632 0 0 ASB11 140456 broad.mit.edu 37 X 15306042 15306042 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:15306042G>T uc004cwp.1 - 6 808 c.808C>A c.(808-810)CCA>ACA p.P270T ASB11_uc004cwo.1_Missense_Mutation_p.P249T|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.P253T NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 270 intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) CTGCTTTTTGGAGCCGCCAGA 0.537 NA 15 76 6.72482e-11 1.01751e-10 0.003163 1 0 ACE2 59272 broad.mit.edu 37 X 15618935 15618935 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:15618935G>T uc004cxa.1 - 1 268 c.100C>A c.(100-102)CAC>AAC p.H34N ACE2_uc004cxb.2_Missense_Mutation_p.H34N NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 34 Extracellular (Potential).|Interaction with SARS-CoV spike glycoprotein. angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) TCGGCTTCGTGGTTAAACTTG 0.438 NA 15 92 1.05317e-09 1.53167e-09 0.00245 1 0 GRPR 2925 broad.mit.edu 37 X 16168473 16168473 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:16168473C>A uc004cxj.2 + 2 1112 c.459C>A c.(457-459)GCC>GCA p.A153A NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 153 Helical; Name=4; (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) CCTCTCATGCCCTGATGAAGA 0.488 NA 21 99 2.27731e-05 2.66662e-05 0.012319 1 0 REPS2 9185 broad.mit.edu 37 X 17047678 17047678 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:17047678C>A uc004cxv.1 + 5 874 c.703C>A c.(703-705)CAG>AAG p.Q235K REPS2_uc004cxw.1_Missense_Mutation_p.Q234K|REPS2_uc011miw.1_Missense_Mutation_p.Q94K NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 235 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) GCCCCTTGTCCAGCCCGAGGG 0.498 NA 13 82 7.93312e-07 1.01678e-06 0.00245 1 0 CXorf23 256643 broad.mit.edu 37 X 19984254 19984254 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:19984254G>T uc004czp.2 - 2 555 c.555C>A c.(553-555)TCC>TCA p.S185S CXorf23_uc010nfn.2_5'Flank|CXorf23_uc011mjg.1_5'Flank|CXorf23_uc004czo.2_Silent_p.S135S NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 185 mitochondrion lung(1)|skin(1) 2 TAGTTGACTGGGAGTATTTTT 0.408 NA 29 98 1.08312e-15 1.86472e-15 0.009535 1 0 YY2 404281 broad.mit.edu 37 X 21875099 21875099 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:21875099C>A uc011mjp.1 + 1 497 c.497C>A c.(496-498)ACG>AAG p.T166K MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.T384K|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 AGCCTGGGCACGAGGAAGTGG 0.488 NA 32 119 2.08457e-15 3.57916e-15 0.010818 1 0 PDK3 5165 broad.mit.edu 37 X 24552145 24552145 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:24552145A>T uc004dbg.2 + 11 1406 c.1177A>T c.(1177-1179)AGC>TGC p.S393C PDK3_uc004dbh.2_Missense_Mutation_p.S393C NM_005391 NP_005382 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase 3 isoform 2 393 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GAGCAATCCCAGCAGTGAACC 0.428 NA 3 33 0 0 0.009096 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212836 26212836 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:26212836C>T uc004dbr.2 + 2 1022 c.873C>T c.(871-873)CTC>CTT p.L291L MAGEB6_uc010ngc.1_Silent_p.L71L NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 291 MAGE. ovary(3) 3 TGATGTCGCTCCTGGTTGTGA 0.542 NA 19 267 0 0 0.008871 0 0 NR0B1 190 broad.mit.edu 37 X 30326724 30326724 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:30326724C>A uc004dcf.3 - 1 772 c.757G>T c.(757-759)GTG>TTG p.V253L NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 253 4; truncated.|4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) TCGCAGACCACCTGTGGACTC 0.677 NA OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 26 0.00198382 0.00216386 0.001984 1 0 NR0B1 190 broad.mit.edu 37 X 30327329 30327329 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:30327329C>T uc004dcf.3 - 1 167 c.152G>A c.(151-153)AGA>AAA p.R51K NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 51 4 X 67 AA tandem repeats.|1. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) CAGCCCCTCTCTGCCCACCCC 0.672 NA 7 43 0 0 0.004482 0 0 DMD 1756 broad.mit.edu 37 X 32466669 32466669 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:32466669A>G uc004dda.1 - 27 3934 c.3690T>C c.(3688-3690)CCT>CCC p.P1230P DMD_uc004dcz.2_Silent_p.P1107P|DMD_uc004dcy.1_Silent_p.P1226P|DMD_uc004ddb.1_Silent_p.P1222P|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1230 Spectrin 8. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTGTGCTACAGGTGGAGCTT 0.423 NA 4 65 0 0 0.009096 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820687 35820687 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:35820687T>A uc010ngt.1 + 2 653 c.374T>A c.(373-375)CTG>CAG p.L125Q NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 125 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 AATTTCATGCTGCACAAGTGT 0.453 NA 11 47 0 0 0.010729 0 0 USP11 8237 broad.mit.edu 37 X 47107328 47107328 + Nonstop_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:47107328G>C uc004dhp.2 + 21 2891 c.2891G>C c.(2890-2892)TGA>TCA p.*964S USP11_uc004dhq.2_Nonstop_Mutation_p.*690S NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 964 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 GATGTTAATTGAGAGCCCTGG 0.597 NA 4 19 0 0 0.009096 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48831665 48831665 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:48831665C>A uc004dly.1 - 25 2370 c.2335G>T c.(2335-2337)GAC>TAC p.D779Y NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 779 early endosome breast(2)|kidney(1) 3 TTCACTAGGTCTCTCAGGACG 0.572 NA 6 44 0.00198382 0.00216386 0.001984 1 0 CCNB3 85417 broad.mit.edu 37 X 50053979 50053979 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:50053979C>T uc004dox.3 + 6 3108 c.2810C>T c.(2809-2811)CCC>CTC p.P937L CCNB3_uc004doy.2_Missense_Mutation_p.P937L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 937 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AATGAGAAACCCACCACTGGG 0.453 NA 14 92 0 0 0.003163 0 0 DGKK 139189 broad.mit.edu 37 X 50163469 50163469 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:50163469G>T uc010njr.1 - 4 934 c.874C>A c.(874-876)CCC>ACC p.P292T NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 292 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TTCCGGTTGGGTGCAGCCAGA 0.393 NA 19 106 1.00905e-13 1.65235e-13 0.008871 1 0 SHROOM4 57477 broad.mit.edu 37 X 50377606 50377606 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:50377606G>T uc004dpe.2 - 4 1493 c.1467C>A c.(1465-1467)CAC>CAA p.H489Q SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.H373Q NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 489 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) TTTGGCTCTGGTGTCCCAAAA 0.517 NA 17 120 9.16793e-09 1.29777e-08 0.00499 1 0 WNK3 65267 broad.mit.edu 37 X 54275959 54275959 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:54275959A>T uc004dtd.1 - 17 3261 c.2822T>A c.(2821-2823)GTG>GAG p.V941E WNK3_uc004dtc.1_Missense_Mutation_p.V941E NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 941 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 ACCATCAACCACATCCTTGTG 0.403 NA 29 118 0 0 0.00632 0 0 ITIH5L 347365 broad.mit.edu 37 X 54783638 54783638 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:54783638G>T uc004dtj.2 - 8 2899 c.2869C>A c.(2869-2871)CTG>ATG p.L957M NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 957 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GATGGTCCCAGAACTTGCCTG 0.587 NA 19 64 6.94344e-10 1.01212e-09 0.006122 1 0 ZXDA 7789 broad.mit.edu 37 X 57936015 57936015 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:57936015C>A uc004dve.2 - 1 1053 c.840G>T c.(838-840)AAG>AAT p.K280N NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 280 C2H2-type 1.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GCTGGTGCTTCTTGGCGAAGG 0.692 NA 5 24 0.000602214 0.000674184 0.000602 1 0 FAM123B 139285 broad.mit.edu 37 X 63411755 63411755 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:63411755T>C uc004dvo.2 - 2 1685 c.1412A>G c.(1411-1413)TAT>TGT p.Y471C NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 471 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GGAGTCATAATAACCTTCATC 0.542 NA 12 57 0 0 0.010729 0 0 STARD8 9754 broad.mit.edu 37 X 67943859 67943859 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:67943859G>A uc004dxa.2 + 13 3222 c.2850G>A c.(2848-2850)GTG>GTA p.V950V STARD8_uc004dxb.2_Silent_p.V1030V|STARD8_uc004dxc.3_Silent_p.V950V NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 950 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 AACAACCTGTGCCAGAGTCGG 0.627 NA 11 66 0 0 0.010729 0 0 FAM155B 27112 broad.mit.edu 37 X 68749663 68749663 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:68749663C>T uc004dxk.2 + 3 1331 c.1283C>T c.(1282-1284)CCT>CTT p.P428L NM_015686 NP_056501 O75949 F155B_HUMAN transmembrane protein 28 429 integral to membrane ovary(1)|breast(1) 2 CGCCTCAGCCCTAGCAGGATC 0.547 NA 18 65 0 0 0.006122 0 0 SLC7A3 84889 broad.mit.edu 37 X 70145939 70145939 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:70145939A>T uc004dyn.2 - 11 1868 c.1710T>A c.(1708-1710)TTT>TTA p.F570L SLC7A3_uc004dyo.2_Missense_Mutation_p.F570L NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 570 Helical; Name=14; (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCCAGACCCCAAATCGGGCCC 0.488 NA 12 43 0 0 0.010729 0 0 RGAG4 340526 broad.mit.edu 37 X 71351284 71351284 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:71351284A>T uc010nlh.1 - 1 468 c.107T>A c.(106-108)CTC>CAC p.L36H NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 36 ovary(2)|skin(1) 3 Renal(35;0.156) GGCTCTCCCGAGCTGGAGGCC 0.592 NA 14 94 0 0 0.001855 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74670759 74670759 + Splice_Site SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:74670759T>A uc004ecg.2 - 4 737 c.259_splice c.e4-1 p.F87_splice ZDHHC15_uc004ech.2_Splice_Site_p.F78_splice|ZDHHC15_uc011mqo.1_Splice_Site|ZDHHC15_uc004eci.2_Intron NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 integral to membrane zinc ion binding ovary(2) 2 CAAGTGGAACTGGAAGCAGGA 0.368 NA 12 36 0 0 0.013537 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004218 75004218 + Silent SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:75004218C>T uc004ecj.1 - 1 854 c.669G>A c.(667-669)AGG>AGA p.R223R NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 223 MAGE 1. ovary(1)|skin(1) 2 TGAGGAGGTTCCTTGTGTTCC 0.493 NA 24 51 0 0 0.00333 0 0 CXorf26 51260 broad.mit.edu 37 X 75395337 75395337 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:75395337G>T uc004ecl.1 + 4 389 c.186G>T c.(184-186)CTG>CTT p.L62L NM_016500 NP_057584 Q9BVG4 CX026_HUMAN hypothetical protein LOC51260 62 0 CACAGTTCCTGAAACTCACCA 0.408 NA 4 36 0.00909568 0.00960854 0.009096 1 0 ATRX 546 broad.mit.edu 37 X 76890137 76890137 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:76890137G>T uc004ecp.3 - 17 4989 c.4757C>A c.(4756-4758)CCA>CAA p.P1586Q ATRX_uc004ecq.3_Missense_Mutation_p.P1548Q|ATRX_uc004eco.3_Missense_Mutation_p.P1371Q NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1586 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TCCTGAACCTGGAGATTTCTT 0.368 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 15 163 4.75885e-15 8.10531e-15 0.00499 1 0 MAGT1 84061 broad.mit.edu 37 X 77112936 77112936 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:77112936C>A uc004fof.2 - 4 607 c.545G>T c.(544-546)CGG>CTG p.R182L MAGT1_uc004fog.3_RNA NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 150 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 TGTATCACCCCGTTTGGGTTT 0.423 NA 22 195 1.10513e-12 1.76877e-12 0.014323 1 0 PGK1 5230 broad.mit.edu 37 X 77380449 77380449 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:77380449C>A uc004ecz.3 + 9 1187 c.1015C>A c.(1015-1017)CCT>ACT p.P339T PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.P311T NM_000291 NP_000282 P00558 PGK1_HUMAN phosphoglycerate kinase 1 339 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity upper_aerodigestive_tract(1)|ovary(1) 2 GTGGAATGGTCCTGTGGGGGT 0.532 NA 13 157 0.00010058 0.00011441 0.013537 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77913593 77913593 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:77913593G>T uc004edc.1 - 2 621 c.325C>A c.(325-327)CCA>ACA p.P109T NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 109 Pro-rich. nucleic acid binding|zinc ion binding ovary(1) 1 GGGGCTGCTGGGGCCTCCTGG 0.642 NA 6 26 0.00116845 0.00128549 0.001168 1 0 P2RY10 27334 broad.mit.edu 37 X 78216850 78216850 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:78216850C>T uc004ede.2 + 4 1202 c.833C>T c.(832-834)CCC>CTC p.P278L P2RY10_uc004edf.2_Missense_Mutation_p.P278L NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 278 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 AGCAGTTGTCCCGTTGTCCGA 0.418 NA 22 251 0 0 0.014323 0 0 APOOL 139322 broad.mit.edu 37 X 84342616 84342616 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:84342616G>T uc004eem.2 + 9 753 c.739G>T c.(739-741)GAC>TAC p.D247Y APOOL_uc010nmp.2_RNA NM_198450 NP_940852 Q6UXV4 APOOL_HUMAN apolipoprotein O-like precursor 247 extracellular region 0 GTTTATGCCTGACCCCAAGCT 0.338 NA 3 8 0.004672 0.00501021 0.004672 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177650 89177650 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:89177650C>G uc004efe.2 + 2 615 c.566C>G c.(565-567)CCG>CGG p.P189R NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 189 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 ATAGCCCAGCCGAAGAAAAAG 0.572 NA 12 75 0 0 0.010729 0 0 DIAPH2 1730 broad.mit.edu 37 X 96369926 96369926 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:96369926G>T uc004efu.3 + 21 2947 c.2551G>T c.(2551-2553)GCC>TCC p.A851S DIAPH2_uc004eft.3_Missense_Mutation_p.A851S NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 851 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 CTCAAGAAATGCCCAGTCTTT 0.338 NA 3 38 0.004672 0.00501021 0.004672 1 0 GPRASP2 114928 broad.mit.edu 37 X 101970569 101970569 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:101970569C>A uc004ejk.2 + 4 2106 c.772C>A c.(772-774)CAC>AAC p.H258N GPRASP2_uc004ejl.2_Missense_Mutation_p.H258N|GPRASP2_uc004ejm.2_Missense_Mutation_p.H258N|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 258 cytoplasm protein binding ovary(1) 1 CAGGTCCAGGCACAGGGCTAA 0.532 NA 34 155 1.04352e-10 1.56774e-10 0.003755 1 0 GPRASP2 114928 broad.mit.edu 37 X 101971085 101971085 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:101971085A>T uc004ejk.2 + 4 2622 c.1288A>T c.(1288-1290)AGT>TGT p.S430C GPRASP2_uc004ejl.2_Missense_Mutation_p.S430C|GPRASP2_uc004ejm.2_Missense_Mutation_p.S430C|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 430 cytoplasm protein binding ovary(1) 1 GGAAAAGTCCAGTTTGGGGGC 0.577 NA 18 107 0 0 0.00499 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104993096 104993096 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:104993096G>T uc004elz.1 + 9 1948 c.1192G>T c.(1192-1194)GAC>TAC p.D398Y NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 398 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 AACTAATGATGGTAAGCTGTC 0.294 NA 13 52 5.50884e-06 6.65869e-06 0.013537 1 0 SERPINA7 6906 broad.mit.edu 37 X 105277592 105277592 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:105277592G>T uc004eme.1 - 4 1163 c.1147C>A c.(1147-1149)CCT>ACT p.P383T SERPINA7_uc010npd.2_Missense_Mutation_p.P383T NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 383 P -> L (in TBG deficiency; Kumamoto). regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGATAATAGGGTGTAGGAAA 0.438 NA 54 340 1.0442e-30 1.98553e-30 0.01441 1 0 MORC4 79710 broad.mit.edu 37 X 106186365 106186365 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:106186365G>C uc004emu.3 - 15 1999 c.1756C>G c.(1756-1758)CCT>GCT p.P586A MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.P586A|MORC4_uc004emw.3_Missense_Mutation_p.P334A NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 586 ATP binding|zinc ion binding ovary(1) 1 TCTAGAGAAGGTGTTGTCATC 0.453 NA 30 169 0 0 0.008361 0 0 RBM41 55285 broad.mit.edu 37 X 106310791 106310791 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:106310791G>T uc004emz.2 - 7 1239 c.1208C>A c.(1207-1209)GCT>GAT p.A403D RBM41_uc004emy.1_Missense_Mutation_p.A403D NM_018301 NP_060771 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 403 nucleotide binding|RNA binding ovary(1) 1 GCTACCTGTAGCACATGATAT 0.368 NA 35 230 2.09667e-21 3.86005e-21 0.003755 1 0 IRS4 8471 broad.mit.edu 37 X 107975899 107975899 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:107975899G>T uc004eoc.2 - 1 3709 c.3676C>A c.(3676-3678)CCG>ACG p.P1226T NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 1226 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TCTCTCTCCGGGGGTCTTGGC 0.572 NA 68 256 1.62914e-18 2.93984e-18 0.01441 1 0 AMMECR1 9949 broad.mit.edu 37 X 109560903 109560903 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:109560903A>T uc004eoo.2 - 1 478 c.397T>A c.(397-399)TTT>ATT p.F133I AMMECR1_uc004eop.2_Missense_Mutation_p.F133I|AMMECR1_uc004eoq.2_Missense_Mutation_p.F10I NM_015365 NP_056180 Q9Y4X0 AMER1_HUMAN AMMECR1 protein isoform 1 133 AMMECR1. 0 TCGAAGCAAAAGCAGCACATC 0.647 NA 7 26 0 0 0.001984 0 0 LUZP4 51213 broad.mit.edu 37 X 114540908 114540908 + Nonsense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:114540908C>T uc004eqa.2 + 4 515 c.481C>T c.(481-483)CGA>TGA p.R161* LUZP4_uc004eqb.2_Nonsense_Mutation_p.R79* NM_016383 NP_057467 Q9P127 LUZP4_HUMAN leucine zipper protein 4 161 nucleus ovary(2) 2 TCATTCTGAGCGATCCCGAAA 0.463 NA 21 74 0 0 0.012319 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117960036 117960036 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:117960036G>A uc004equ.2 + 4 1302 c.829G>A c.(829-831)GTG>ATG p.V277M NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 CGATGAGGATGTGATCCTGGT 0.567 NA 18 104 0 0 0.007413 0 0 CXorf56 63932 broad.mit.edu 37 X 118699205 118699205 + Silent SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:118699205G>T uc004erk.1 - 1 160 c.114C>A c.(112-114)GTC>GTA p.V38V CXorf56_uc004erj.1_5'UTR|CXorf56_uc011mtu.1_Silent_p.V38V NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 38 protein binding 0 CCAGCACTAGGACCATCTGGC 0.582 NA 21 151 8.04996e-18 1.43636e-17 0.012319 1 0 GLUD2 2747 broad.mit.edu 37 X 120182641 120182641 + Missense_Mutation SNP A A T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:120182641A>T uc004eto.2 + 1 1180 c.1103A>T c.(1102-1104)GAA>GTA p.E368V NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 368 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) AAGCCCTATGAAGGAAGCATC 0.488 NA 34 225 0 0 0.012213 0 0 STAG2 10735 broad.mit.edu 37 X 123191729 123191729 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:123191729A>G uc004etz.3 + 14 1657 c.1318A>G c.(1318-1320)AGA>GGA p.R440G STAG2_uc004eua.2_Missense_Mutation_p.R440G|STAG2_uc004eub.2_Missense_Mutation_p.R440G|STAG2_uc004euc.2_Missense_Mutation_p.R440G|STAG2_uc004eud.2_Missense_Mutation_p.R440G|STAG2_uc004eue.2_Missense_Mutation_p.R440G NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 440 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CTTCAGTCGTAGAGATCCAGA 0.313 NA 4 36 0 0 0.000602 0 0 ODZ1 10178 broad.mit.edu 37 X 123779114 123779114 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:123779114C>A uc004euj.2 - 10 1819 c.1755G>T c.(1753-1755)AAG>AAT p.K585N ODZ1_uc011muj.1_Missense_Mutation_p.K584N|ODZ1_uc010nqy.2_Missense_Mutation_p.K585N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 585 EGF-like 2.|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 ACTCTGGCCCCTTCCAGCCAT 0.522 NA 68 272 2.18329e-32 4.16393e-32 0.01441 1 0 BCORL1 63035 broad.mit.edu 37 X 129147583 129147583 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:129147583G>T uc004evb.1 + 4 949 c.835G>T c.(835-837)GCC>TCC p.A279S BCORL1_uc010nrd.1_Missense_Mutation_p.A181S NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 279 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TTCTGTTTCGGCCTCAGTCTT 0.507 NA 25 126 3.65163e-15 6.23616e-15 0.00632 1 0 BCORL1 63035 broad.mit.edu 37 X 129149725 129149725 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:129149725C>T uc004evb.1 + 4 3091 c.2977C>T c.(2977-2979)CAT>TAT p.H993Y BCORL1_uc010nrd.1_Missense_Mutation_p.H895Y NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 993 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 CTACATGTCCCATGAGCTGGT 0.582 NA 28 116 0 0 0.00632 0 0 FRMD7 90167 broad.mit.edu 37 X 131212489 131212489 + Missense_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:131212489G>C uc004ewn.2 - 12 1734 c.1556C>G c.(1555-1557)CCA>CGA p.P519R FRMD7_uc011muy.1_Missense_Mutation_p.P504R NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 519 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) ATAGCTATGTGGACTTGTCCT 0.488 NA 37 203 0 0 0.006999 0 0 GPR112 139378 broad.mit.edu 37 X 135427714 135427714 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:135427714G>T uc004ezu.1 + 6 2140 c.1849G>T c.(1849-1851)GGA>TGA p.G617* GPR112_uc010nsb.1_Nonsense_Mutation_p.G412*|GPR112_uc010nsc.1_Nonsense_Mutation_p.G384* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 617 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TACAGCTGATGGACACTTGCT 0.473 NA 15 82 1.49906e-05 1.77162e-05 0.00245 1 0 GPR112 139378 broad.mit.edu 37 X 135429187 135429187 + Nonsense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:135429187G>T uc004ezu.1 + 6 3613 c.3322G>T c.(3322-3324)GAA>TAA p.E1108* GPR112_uc010nsb.1_Nonsense_Mutation_p.E903*|GPR112_uc010nsc.1_Nonsense_Mutation_p.E875* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1108 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TTCTCTGACAGAAACACCATT 0.473 NA 44 197 1.7489e-18 3.14704e-18 0.011902 1 0 CD40LG 959 broad.mit.edu 37 X 135741549 135741549 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:135741549C>A uc004faa.2 + 5 833 c.761C>A c.(760-762)ACG>AAG p.T254K CD40LG_uc010nsd.2_Missense_Mutation_p.T233K NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 254 Extracellular (Potential). T -> M (in HIGM1). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) ACTGGCTTCACGTCCTTTGGC 0.507 NA Immune_Deficiency_with_Hyper-IgM 19 107 8.28177e-16 1.43356e-15 0.007413 1 0 GPR101 83550 broad.mit.edu 37 X 136112640 136112640 + Silent SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:136112640A>G uc011mwh.1 - 1 1194 c.1194T>C c.(1192-1194)GCT>GCC p.A398A NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 398 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) AGATCACTTTAGCAGCTTTGC 0.547 NA 16 76 0 0 0.003163 0 0 SOX3 6658 broad.mit.edu 37 X 139586844 139586844 + Missense_Mutation SNP T T A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:139586844T>A uc004fbd.1 - 1 382 c.382A>T c.(382-384)AGC>TGC p.S128C NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 128 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) CCACCTCCGCTCGCACCACCG 0.721 NA 7 42 0 0 0.00308 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984797 140984797 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:140984797C>T uc011mwp.1 + 7 1253 c.1253C>T c.(1252-1254)TCC>TTC p.S418F MAGEC3_uc004fbs.2_Missense_Mutation_p.S120F|MAGEC3_uc010nsj.2_Missense_Mutation_p.S120F NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 418 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) cctcTAGACTCCTGCTCATCC 0.358 NA 3 20 0 0 0.004672 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013098 149013098 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:149013098G>A uc004fdw.1 + 3 267 c.52G>A c.(52-54)GCC>ACC p.A18T NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 18 0 Acute lymphoblastic leukemia(192;6.56e-05) AGGCCTTCAGGCCCAAGGAGA 0.577 NA 8 26 0 0 0.00308 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303513 151303513 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:151303513C>A uc004ffk.2 - 5 988 c.580G>T c.(580-582)GTG>TTG p.V194L MAGEA10_uc004ffl.2_Missense_Mutation_p.V194L NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 194 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GTGGGATCCACTTCCTTTACA 0.498 NA 19 104 5.35267e-07 6.9727e-07 0.007413 1 0 MAGEA6 4105 broad.mit.edu 37 X 151869560 151869560 + Missense_Mutation SNP T T G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:151869560T>G uc004ffq.1 + 3 444 c.250T>G c.(250-252)TAT>GAT p.Y84D MAGEA6_uc004ffr.1_Missense_Mutation_p.Y84D|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 84 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) GAGCCAATCCTATGAGGACTC 0.597 NA 21 86 0 0 0.003954 0 0 CETN2 1069 broad.mit.edu 37 X 151996441 151996441 + Missense_Mutation SNP C C T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:151996441C>T uc004fgq.2 - 5 510 c.463G>A c.(463-465)GGA>AGA p.G155R CETN2_uc004fgr.2_Missense_Mutation_p.G84R NM_004344 NP_004335 P41208 CETN2_HUMAN caltractin 155 2.|EF-hand 4. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(192;6.56e-05) CTGACCTCTCCATCTCCATCT 0.373 NA Direct_reversal_of_damage|NER 20 110 0 0 0.010504 0 0 PNMA5 114824 broad.mit.edu 37 X 152159318 152159318 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:152159318G>T uc010ntw.2 - 3 1164 c.825C>A c.(823-825)CAC>CAA p.H275Q PNMA5_uc004fha.3_Missense_Mutation_p.H275Q|PNMA5_uc010ntx.2_Missense_Mutation_p.H275Q|PNMA5_uc004fgy.3_Missense_Mutation_p.H275Q NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 275 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGCTCTTGTGCACGGCTT 0.567 NA 26 96 2.27525e-19 4.15283e-19 0.003954 1 0 PNMA3 29944 broad.mit.edu 37 X 152226044 152226044 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:152226044G>T uc004fhc.2 + 2 968 c.632G>T c.(631-633)GGC>GTC p.G211V PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 211 apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) tgcttacggggccctgctctc 0 NA 20 135 9.7654e-05 0.00011148 0.007413 1 0 MECP2 4204 broad.mit.edu 37 X 153295921 153295921 + Missense_Mutation SNP C C A rs61753980 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:153295921C>A uc004fjv.2 - 4 1584 c.1358G>T c.(1357-1359)CGA>CTA p.R453L MECP2_uc004fjw.2_Missense_Mutation_p.R465L NM_004992 NP_004983 P51608 MECP2_HUMAN methyl CpG binding protein 2 isoform 1 453 R -> Q (in MRXS13). negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCCTCCCCTCGGTGTTTGTA 0.622 NA 79 450 7.83748e-43 1.51287e-42 0.01441 1 0 SLC10A3 8273 broad.mit.edu 37 X 153716657 153716657 + Missense_Mutation SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:153716657C>A uc004flq.2 - 3 887 c.623G>T c.(622-624)GGG>GTG p.G208V UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Missense_Mutation_p.G179V|SLC10A3_uc004flp.2_Missense_Mutation_p.G208V NM_001142392 NP_001135864 P09131 P3_HUMAN solute carrier family 10, member 3 isoform 1 208 organic anion transport integral to membrane bile acid:sodium symporter activity ovary(1)|skin(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACTTTGCACCCAAACGAACA 0.587 NA 24 156 1.9806e-07 2.63391e-07 0.014323 1 0 Unknown 0 broad.mit.edu 37 X 155254735 155254735 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:155254735C>G uc004fnx.3 + 8 1085 c.631C>G c.(631-633)CTC>GTC p.L211V NM_182905 NP_878908 WAS protein family homolog 1 NA GATGTCGGATCTCTTCAACAA 0.587 NA 3 8 0 0 0.004672 0 0 GJA8 2703 broad.mit.edu 37 1 147380436 147380436 + Frame_Shift_Del DEL G G - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr1:147380436delG uc001epu.1 + 2 417 c.354delG c.(352-354)GCGfs p.A118fs NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 118 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GCCAGCAGGCGGGGACTAACG 0.662 Melanoma(76;1255 1795 8195 52096) NA 42 96 --- --- --- --- NA NA NA NA NA OR52N4 390072 broad.mit.edu 37 11 5776795 5776795 + Frame_Shift_Del DEL C C - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:5776795delC uc001mbu.2 + 1 873 c.825delC c.(823-825)TGCfs p.C275fs TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 275 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CCCCTTCTTGCCACATCATTG 0.458 NA 13 161 --- --- --- --- NA NA NA NA NA KRTAP5-10 387273 broad.mit.edu 37 11 71276873 71276874 + Frame_Shift_Ins INS - - A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:71276873_71276874insA uc001oqt.1 + 1 265_266 c.240_241insA c.(238-243)TCCAAAfs p.S80fs NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 80_81 7 X 4 AA repeats of C-C-X-P. keratin filament skin(1) 1 GTGGGGGCTCCAAAGGGGGCTG 0.683 NA 34 266 --- --- --- --- NA NA NA NA NA SCN2B 6327 broad.mit.edu 37 11 118037787 118037787 + Frame_Shift_Del DEL C C - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr11:118037787delC uc001psf.2 - 4 654 c.463delG c.(463-465)GACfs p.D155fs NM_004588 NP_004579 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta 155 Extracellular (Potential). synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) ACCGTGGAGTCCCGCTCAGGG 0.617 NA 10 51 --- --- --- --- NA NA NA NA NA PRB4 5545 broad.mit.edu 37 12 11461410 11461410 + Frame_Shift_Del DEL T T - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:11461410delT uc001qzf.1 - 3 541 c.507delA c.(505-507)GAAfs p.E169fs PRB4_uc001qzt.2_Frame_Shift_Del_p.E169fs NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 232 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|10; truncated. extracellular region ovary(1) 1 ACTTGTTTCCTTCCTGTGGGG 0.587 NA HNSCC(22;0.051) 74 405 --- --- --- --- NA NA NA NA NA ZCRB1 85437 broad.mit.edu 37 12 42717844 42717844 + Frame_Shift_Del DEL G G - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:42717844delG uc001rmz.2 - 2 270 c.61delC c.(61-63)CTGfs p.L21fs PPHLN1_uc001rmy.2_Intron|PPHLN1_uc001rna.2_5'Flank|PPHLN1_uc001rne.2_5'Flank|PPHLN1_uc001rnb.2_5'Flank|PPHLN1_uc001rnd.2_5'Flank|PPHLN1_uc001rnc.2_5'Flank|PPHLN1_uc001rnf.2_5'Flank|PPHLN1_uc010skq.1_5'Flank|PPHLN1_uc010skr.1_5'Flank|PPHLN1_uc001rng.1_5'Flank|PPHLN1_uc010sks.1_5'Flank|PPHLN1_uc010skt.1_5'Flank|PPHLN1_uc001rni.1_5'Flank|PPHLN1_uc001rnh.1_5'Flank|PPHLN1_uc010sku.1_5'Flank NM_033114 NP_149105 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 21 RRM. mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding skin(1) 1 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) TTGTTTGTCAGGGAAAAAGGC 0.378 NA 21 71 --- --- --- --- NA NA NA NA NA TMEM132B 114795 broad.mit.edu 37 12 126138827 126138827 + Frame_Shift_Del DEL G G - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr12:126138827delG uc001uhe.1 + 9 2816 c.2808delG c.(2806-2808)CAGfs p.Q936fs TMEM132B_uc001uhf.1_Frame_Shift_Del_p.Q448fs NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 936 Cytoplasmic (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGAGTGAGCAGGGCAACATCC 0.512 NA 9 95 --- --- --- --- NA NA NA NA NA SMOC1 64093 broad.mit.edu 37 14 70477560 70477561 + Frame_Shift_Ins INS - - C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr14:70477560_70477561insC uc001xls.1 + 8 1007_1008 c.754_755insC c.(754-756)GCCfs p.A252fs SMOC1_uc001xlt.1_Frame_Shift_Ins_p.A252fs NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 252 Thyroglobulin type-1 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CCCTGAATGTGCCCCTGGGGGA 0.589 NA 34 119 --- --- --- --- NA NA NA NA NA KIFC3 3801 broad.mit.edu 37 16 57803530 57803530 + Frame_Shift_Del DEL C C - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr16:57803530delC uc002emp.2 - 9 1392 c.1195delG c.(1195-1197)GCCfs p.A399fs KIFC3_uc010vhw.1_Frame_Shift_Del_p.A297fs|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Frame_Shift_Del_p.A260fs|KIFC3_uc010vhx.1_Frame_Shift_Del_p.A260fs|KIFC3_uc010cdf.2_Frame_Shift_Del_p.A260fs|KIFC3_uc002emo.3_Frame_Shift_Del_p.A260fs|KIFC3_uc010vhy.1_Frame_Shift_Del_p.A341fs|KIFC3_uc002emq.2_Frame_Shift_Del_p.A399fs|KIFC3_uc010vhz.1_Frame_Shift_Del_p.A421fs|KIFC3_uc002emr.1_Frame_Shift_Del_p.A176fs NM_005550 NP_005541 Q9BVG8 KIFC3_HUMAN kinesin family member C3 isoform 1 399 Potential. epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity central_nervous_system(2)|ovary(1) 3 all_neural(199;0.224) CTCCTGAGGGCCTCCTGCAGC 0.657 NA 27 72 --- --- --- --- NA NA NA NA NA DNAH9 1770 broad.mit.edu 37 17 11554601 11554601 + Frame_Shift_Del DEL C C - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr17:11554601delC uc002gne.2 + 13 2381 c.2313delC c.(2311-2313)CGCfs p.R771fs DNAH9_uc010coo.2_Frame_Shift_Del_p.R65fs NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 771 Stem (By similarity).|Potential. R -> L (in a breast cancer sample; somatic mutation). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R771L(1) skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGATCTCCGCCTCAGAGCAG 0.418 NA 21 59 --- --- --- --- NA NA NA NA NA CTAGE1 64693 broad.mit.edu 37 18 19995559 19995559 + Frame_Shift_Del DEL A A - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:19995559delA uc002ktv.1 - 1 2320 c.2216delT c.(2215-2217)TTCfs p.F739fs NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 739 Pro-rich. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGCTGGGGGGAAAAATGCAGG 0.502 NA 18 48 --- --- --- --- NA NA NA NA NA ADNP2 22850 broad.mit.edu 37 18 77895005 77895006 + Frame_Shift_Ins INS - - T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr18:77895005_77895006insT uc002lnw.2 + 4 2164_2165 c.1709_1710insT c.(1708-1710)ACTfs p.T570fs NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 570 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CTCAACCAGACTGTGGGCACCA 0.55 NA 22 88 --- --- --- --- NA NA NA NA NA NUMBL 9253 broad.mit.edu 37 19 41173866 41173868 + In_Frame_Del DEL TGC TGC - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 TGC TGC - - TGC TGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr19:41173866_41173868delTGC uc002oon.2 - 10 1503_1505 c.1335_1337delGCA c.(1333-1338)CAGCAA>CAA p.445_446QQ>Q NUMBL_uc010xvq.1_In_Frame_Del_p.404_405QQ>Q|NUMBL_uc002ooo.2_In_Frame_Del_p.444_445QQ>Q|NUMBL_uc010xvr.1_In_Frame_Del_p.404_405QQ>Q NM_004756 NP_004747 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 445_446 Poly-Gln. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding lung(3)|ovary(1)|breast(1) 5 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) TGAGgctgcttgctgctgttgct 0.473 NA 3 5 --- --- --- --- NA NA NA NA NA CCDC142 84865 broad.mit.edu 37 2 74709220 74709220 + Frame_Shift_Del DEL T T - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr2:74709220delT uc002slr.2 - 1 1138 c.745delA c.(745-747)AGTfs p.S249fs TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Frame_Shift_Del_p.S249fs|CCDC142_uc002slp.2_Frame_Shift_Del_p.S249fs NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 249 central_nervous_system(1) 1 TCCAGCCGACTTGCCACCTGG 0.677 NA 18 52 --- --- --- --- NA NA NA NA NA ADAMTS1 9510 broad.mit.edu 37 21 28212020 28212020 + Frame_Shift_Del DEL C C - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr21:28212020delC uc002ymf.2 - 7 2369 c.1914delG c.(1912-1914)GGGfs p.G638fs NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 638 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) CAGGCCCACTCCCAAAGGAAG 0.458 NA 25 99 --- --- --- --- NA NA NA NA NA PFKL 5211 broad.mit.edu 37 21 45730904 45730904 + Frame_Shift_Del DEL G G - rs150271960 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr21:45730904delG uc002zel.2 + 3 234 c.175delG c.(175-177)GTGfs p.V59fs PFKL_uc002zek.2_Frame_Shift_Del_p.V106fs|PFKL_uc011afd.1_Frame_Shift_Del_p.V106fs NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 59 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) TGAGGGCCTCGTGGAGGGAGG 0.597 NA 12 35 --- --- --- --- NA NA NA NA NA TRH 7200 broad.mit.edu 37 3 129695643 129695643 + Frame_Shift_Del DEL G G - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:129695643delG uc003enc.2 + 3 874 c.313delG c.(313-315)GGGfs p.G105fs NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 105 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 agaggaagaagggggggCTGT 0.418 Esophageal Squamous(60;321 1330 17401 41911) NA 7 63 --- --- --- --- NA NA NA NA NA SAMD7 344658 broad.mit.edu 37 3 169644460 169644467 + Frame_Shift_Del DEL CTGCCTAC CTGCCTAC - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 CTGCCTAC CTGCCTAC - - CTGCCTAC CTGCCTAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr3:169644460_169644467delCTGCCTAC uc003fgd.2 + 6 677_684 c.410_417delCTGCCTAC c.(409-417)GCTGCCTACfs p.A137fs SAMD7_uc003fge.2_Frame_Shift_Del_p.A137fs|SAMD7_uc011bpo.1_Frame_Shift_Del_p.A38fs NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 137_139 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GCTGCCCCCGCTGCCTACCATGGCAGGA 0.548 NA 8 76 --- --- --- --- NA NA NA NA NA UNC5C 8633 broad.mit.edu 37 4 96171725 96171725 + Frame_Shift_Del DEL G G - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:96171725delG uc003htp.1 - 5 842 c.688delC c.(688-690)CGAfs p.R230fs UNC5C_uc010ilc.1_Frame_Shift_Del_p.R230fs|UNC5C_uc003htq.2_Frame_Shift_Del_p.R230fs NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 230 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TCAGAGAGTCGGGCCTGCTTT 0.398 NA 34 157 --- --- --- --- NA NA NA NA NA PCDH10 57575 broad.mit.edu 37 4 134073021 134073039 + Frame_Shift_Del DEL GCGCCTCTACCAGGGCGCA GCGCCTCTACCAGGGCGCA - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 GCGCCTCTACCAGGGCGCA GCGCCTCTACCAGGGCGCA - - GCGCCTCTACCAGGGCGCA GCGCCTCTACCAGGGCGCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:134073021_134073039delGCGCCTCTACCAGGGCGCA uc003iha.2 + 1 2552_2570 c.1726_1744delGCGCCTCTACCAGGGCGCA c.(1726-1746)GCGCCTCTACCAGGGCGCAACfs p.A576fs uc003igy.2_5'Flank|PCDH10_uc003igz.2_Frame_Shift_Del_p.A576fs NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 576_582 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGCCATCGTGGCGCCTCTACCAGGGCGCAACGGGACTCC 0.694 NA 7 86 --- --- --- --- NA NA NA NA NA TLL1 7092 broad.mit.edu 37 4 166964494 166964494 + Frame_Shift_Del DEL C C - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr4:166964494delC uc003irh.1 + 12 2094 c.1447delC c.(1447-1449)CGCfs p.R483fs TLL1_uc011cjn.1_Frame_Shift_Del_p.R483fs|TLL1_uc011cjo.1_Frame_Shift_Del_p.R307fs NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 483 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGATGACTATCGCCCGATGAA 0.413 NA 17 95 --- --- --- --- NA NA NA NA NA TTK 7272 broad.mit.edu 37 6 80745022 80745023 + Frame_Shift_Ins INS - - G rs55918562 TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:80745022_80745023insG uc003pjc.2 + 16 1886_1887 c.1812_1813insG c.(1810-1815)TGTGGAfs p.C604fs TTK_uc003pjb.3_Frame_Shift_Ins_p.C603fs NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 604_605 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TAATGGAGTGTGGAAATATTGA 0.327 NA 15 48 --- --- --- --- NA NA NA NA NA TAAR6 319100 broad.mit.edu 37 6 132891761 132891761 + Frame_Shift_Del DEL G G - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr6:132891761delG uc011eck.1 + 1 301 c.301delG c.(301-303)GGGfs p.G101fs NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 101 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CTGGTATTTTGGGAGGAGTTT 0.493 NA 37 119 --- --- --- --- NA NA NA NA NA ELMO1 9844 broad.mit.edu 37 7 37354511 37354512 + Frame_Shift_Ins INS - - T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:37354511_37354512insT uc003tfk.1 - 4 441_442 c.134_135insA c.(133-135)AACfs p.N45fs ELMO1_uc010kxg.1_Frame_Shift_Ins_p.N45fs NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 45 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 AATATTCATGGTTGGCAAGAGA 0.332 NA 8 33 --- --- --- --- NA NA NA NA NA OR2A12 346525 broad.mit.edu 37 7 143792483 143792483 + Frame_Shift_Del DEL C C - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr7:143792483delC uc011kty.1 + 1 283 c.283delC c.(283-285)CCTfs p.P95fs NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) CTCCTTTGCTCCTTGCATACT 0.443 NA 21 77 --- --- --- --- NA NA NA NA NA C9orf131 138724 broad.mit.edu 37 9 35043876 35043887 + In_Frame_Del DEL GAGAAAACTCAG GAGAAAACTCAG - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 GAGAAAACTCAG GAGAAAACTCAG - - GAGAAAACTCAG GAGAAAACTCAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:35043876_35043887delGAGAAAACTCAG uc003zvw.2 + 2 1279_1290 c.1250_1261delGAGAAAACTCAG c.(1249-1263)AGAGAAAACTCAGGA>AGA p.ENSG418del C9orf131_uc003zvu.2_In_Frame_Del_p.ENSG370del|C9orf131_uc003zvv.2_In_Frame_Del_p.ENSG345del|C9orf131_uc003zvx.2_In_Frame_Del_p.ENSG383del NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 418_421 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TGGGAATGCAGAGAAAACTCAGGAAACCTCTG 0.538 NA 10 101 --- --- --- --- NA NA NA NA NA FUBP3 8939 broad.mit.edu 37 9 133485348 133485348 + Frame_Shift_Del DEL C C - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chr9:133485348delC uc004bzr.1 + 3 306 c.198delC c.(196-198)AACfs p.N66fs FUBP3_uc010mzd.1_Frame_Shift_Del_p.N6fs|FUBP3_uc004bzs.1_5'UTR NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 66 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) CAGTAGGTAACCAGTTAGGGG 0.378 NA 25 49 --- --- --- --- NA NA NA NA NA FAM123B 139285 broad.mit.edu 37 X 63411772 63411772 + Frame_Shift_Del DEL G G - TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6135f346-7be7-4beb-bc56-50a94e439776 d8bf0172-63f7-42c6-834d-dd3a53ee3f85 g.chrX:63411772delG uc004dvo.2 - 2 1668 c.1395delC c.(1393-1395)CCCfs p.P465fs NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 465 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CATCACTATTGGGGGCGGATT 0.547 NA 11 68 --- --- --- --- NA NA NA NA NA